reserach in pedia

contentsRESEARCH REPORT 1999

02

03 FOREWORDS

07 RESEARCH OFFICE AND COMMITTEES

11 PROJECTS

12 MOLECULAR MEDICINE AND GENETICS

23 BRAIN AND NERVOUS SYSTEM

22 GASTROINTESTINAL SYSTEM AND LIVER

26 HEART AND BLOOD VESSELS

27 IMMUNE SYSTEM AND INFECTIOUS DISEASE

31 KIDNEYS AND BLADDER

36 LUNGS AND CONTROL OF BREATHING

38 BONES, JOINTS, MUSCLES AND SKIN

41 CANCER AND LEUKAEMIA

46 DIABETES AND METABOLISM

47 CRITICALLY ILL CHILD

53 DEVELOPMENT AND BEHAVIOUR

60 POPULATION HEALTH

69 STAFF

78 STUDENTS

80 FUNDING

85 PUBLICATIONS

100 INDEX OF DEPARTMENTS

102 ACKNOWLEDGEMENTS

forewordsRESEARCH REPORT 1999

03

Name - Cemre. Age 5.

“I like looking at the stars. When I get bigger I might

fly to the moon”


04

The Hospital’s reason for being is to help sick children get well and to assist them in receivingbetter health. In the current climate of funding constraint in health, the solution to some wouldappear simple – cut back on all expenditure which is not seen as ‘bedside care’. To do this inteaching and research would cut directly across our beliefs and commitments. This year’sResearch Report demonstrates again that research is a vital part of the Hospital’s work.

Mr John DunlopPRESIDENT

A Children’s Hospital, where clinicians and researchers work closely together, is the ideal placefor finding the answers to children’s diseases which do not yet have cures.

This is why the Hospital invests heavily in research, because we know it is an essentialcomponent of the Hospital’s role in ‘making sick children get better’.

The growing size and strength of our research effort is shown by the large number of peerreviewed publications, our competitive research grants, the many postgraduate students andparticularly by the increasing collaboration between different Hospital departments, as well asthe growing cooperation with our colleagues at the Children’s Medical Research Institute and atWestmead Hospital’s Research Institute.

It is good that our research has reached the stage of maturity which allows collaborationbetween different research groups. We are also discussing with the Children’s MedicalResearch Institute how we and they can increase cooperation and collaboration, recognisingthat both research groups have much to offer. In the end, this can only be to the benefit of thechildren who are the focus of our research efforts.

Prof Kim OatesCHIEF EXECUTIVE OFFICER

The Department of Paediatrics and Child Health remains actively involved in a broad range ofresearch activities both as independent researchers and in collaboration with other strongresearch units, both within the hospital and externally.

Associate Professor Elizabeth Elliott has two major research interests. Firstly, an active raredisease surveillance reporting scheme (APSU). This involves all paediatricians in Australia andis proving to be highly successful in documenting important trends in these rarer conditions.Dr Elliott is also involved in an ongoing NHMRC funded project with the Department ofGastroenterology on the microvascular changes in E. coli colitis.


Associate Professor Louise Baur’s major research activities are in the areas of childhoodnutrition. In particular, the biochemistry and epidemiology of obesity and a number of excitingstudies on muscle membrane lipids in young children with a family history of insulin resistance.

Dr Kathy North is rapidly expanding her neurogenetics and neuromuscular research activities.Her laboratory studies are closely linked with her extensive clinical studies of neuromusculardiseases and neurofibromatosis. Dr North is actively involved in a number of large collaborativestudies including extensive genetic epidemiologic studies in conjunction with severalinternational research groups.

Professor Craig Mellis’ major research interest is in the area of asthma, particularly primaryprevention of this condition. He is a chief investigator in a large randomised controlled trial,funded by the NHMRC, which is determining whether or not asthma can be prevented in infantsat high risk. This trial is currently well underway with recruitment and randomisation of thebabies into four different treatment arms. Professor Mellis is also involved in a number of otherpulmonary research activities (in both asthma and cystic fibrosis) together with an ongoingresearch interest in the role of evidence-based medicine in paediatrics and child health.

Prof Craig MellisDOUGLAS BURROWS PROFESSOR OF PAEDIATRICS AND CHILD HEALTH

The Year in Research

The past year has been a major milestone for research in our Hospital. We now have a Divisionof Research, which is responsible for coordinating and administering our research efforts. Thischange in organisation has also seen a change in leadership. I wish to pay special thanks to DrJohn Knight for his contribution to building research as Research and Development Managerover the last five years. John was responsible for creating an efficient research managementsystem, which has greatly facilitated the transition of research into a Division.

Our success in attracting external peer-reviewed research grant support has continued to grow.Substantial grants from Australia’s most prestigious granting body, the National Health andMedical Research Council (NH&MRC), were awarded in areas as diverse as preventing asthmain the community (Jenny Peat), establishing the importance of antibiotic treatment for renalreflux (Jonathan Craig), and identifying the role of novel genes involved in cancer (Jenny Byrne).Additional support came from our collaborative involvement in projects involving respiratoryphysiology (Peter Cooper) and the muscle disease, nemaline myopathy (Kathryn North). Inaddition, six more of our PhD students (Maria Craig, Julie Hughes, Jacqui Dalby-Payne, JustinPercival, Anish Singh and Helen Woodhead) were awarded NH&MRC post-graduatescholarships.

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RESEARCH REPORT 1999

06

forewords

In addition to these successes, three new research units were established in the last year.Cheryl Jones returned from Boston and took up her position as the recipient of the ResearchCareer Development Award. She has established a new laboratory investigating new vaccinestrategies. Karen McKay has been appointed to lead the newly created Children’s ChestResearch Centre, funded primarily from proceeds from the Teddy Bear’s Picnic, which ispursuing both laboratory and epidemiological approaches to respiratory physiology. Dr AlisonKesson, the newly appointed Head of the Department of Virology, will continue her study offlaviviruses in a new laboratory. We welcome our new researchers with great enthusiasm andlook forward to their contributions to our research program.

It is most pleasing to report that many of our publications are appearing in high quality journals.1998 saw publications in Journal of Clinical Investigation, Oncogene, Diabetes, AmericanJournal of Human Genetics, Journal of Biological Chemistry, Journal of Virology, Blood, Journalof Immunology, Annual Review of Cell and Developmental Biology and Bioessays. All thesejournals have an impact factor of greater than 5.0, which is an important measure of thequality of the papers we publish. It is also pleasing to see that a number of these publicationsinvolve collaborations between research groups within our Hospital and also with researchersat the Children’ Medical Research Institute and Westmead Hospital, both our close neighbours.It is to be expected that such collaborative initiatives will continue to grow, particularly with ourneighbouring institutions. This sense of collaboration should extend to sharing of technologiesand coordination of funding for major items of equipment.

Our continued growth places great demand on our ability to house and administer research. Weare very lucky to have in place a first class Research Office that keeps the wheels quietlyrunning. Anne O’Neill as Research and Development Manager and Kathryn Hancox as ResearchOperations Manager ensure the smooth running of the Division. We are all grateful to ReeganOxley, Liz Jayawardene, Patricia McGregor, Troy James and Hao-Xu Lui for their support. Weare also very grateful to Drs Luana Ferrara and Ross Matthews for access to their animalfacilities at the Children’s Medical Research Institute and Westmead Hospital, respectively.

Looking to the future, we are in the process of developing a strategic plan for research in theHospital. Central to our plan is the recognition that we need to create dedicated research teams,which will serve as core research centres. These centres will drive our research programs andwill provide the principal research interface with many of our clinical health researchers. It isclear that clinical health researchers are the key to turning research into medicine. On the onehand, they are involved in the identification of important health research problems, and on theother hand play a crucial role in changing health practice based on research analysis.

The future belongs to those who can bring together the appropriate researchers and health careprofessionals to attack and solve our major health problems. Turning our research intomedicine will increasingly become a reality. Our children should accept nothing less from us.

Prof Peter GunningCHAIR, DIVISION OF RESEARCH

research office & commiteesRESEARCH REPORT 1999

07

Name - Bianca. Age 4.

“I want to drive a police car when I get bigger,

and make the siren really loud.”

research office & committeesRESEARCH REPORT 1999

08

Research and

Development Office

The main functions of the Researchand Development Office are tosupport research staff, to improvethe quality and quantity of researchin the Hospital and to monitor andreport research undertaking in theHospital. The Research and Devel-opment Office also aims to developand implement the Research andDevelopment Strategic Plan andserve the Division of Research inan administrative and operationalcapacity.

The Research Office is currentlycomprised of the following staff:

Prof Peter Gunning, BSc(Hons)PhD, Chair of the Division ofResearchAnne O’Neill, BSc(Hons), Researchand Development ManagerKathryn Hancox, BSc MSc,Research Operations ManagerReegan Oxley, SecretaryLiz Jayawardene, ReceptionistPatricia MacGregor, LaboratoryAssistantTroy James, Animal Technician(Team Leader)Hao-Xu Lui, Animal TechnicianJodi Gero, Animal Technician

Committees

Research CommitteeThe role of this Committee is topromote an inquiring approach tothe problems of children and toadvise the Board on the use ofresearch funds.

ChairmanMr John Dunlop

SecretaryProf Kim Oates

MembersProf Jeff BaileyProf Tony Cunningham (fromAugust 1998)Prof Peter GunningDr John Knight (until May 1998)Prof Craig MellisMiss Jan MinnisProf Sue NagyDr Ken NunnA/Prof John OvertonA/Prof Peter ProcopisProf Peter RoweProf John Young (until May 1998)

In AttendanceMs Anne O’Neill

Ethics CommitteeThis Committee is responsible forprotecting the rights and welfare ofchildren involved in researchprocedures and determines whetherthe potential risk to any partici-pants in the research is outweighedby the potential benefit.

ChairProf Peter Rowe

SecretaryDr John Knight (until May 1998)Ms Anne O’Neill (from May 1998)

Community MembersLaypeople not affiliated withthe institutionMs Ann Atkinson (until June 1998)Mrs Ruth Burleigh (from August1998)Mr Rod Young

Board RepresentativeProf Kim Oates

LawyerMr Ian Butcher

Minister of ReligionMrs Vera Ryan

Research MembersMedical ResearchProf Peter Gunning

Surgical ResearchA/Prof Danny Cass (from August1998)

Nursing ResearchProf Sue Nagy

Allied Health ResearchMs Alison Moore (from August1998)

Representative of CMRIDr Roger Reddel

Hospital ManagementA/Prof Peter ProcopisMiss Jan Minnis

Scientific Advisory

CommitteeResearch which is unscientific isnever ethical. This Committeereviews the scientific validity of allresearch proposals and advises theEthics Committee. If a protocoldoes not pass the test of scientificvalidity, then it is not considered bythe Ethics Committee.

ChairProf Kevin Gaskin


MembersDr Ian AlexanderProf Jeff BaileyA/Prof Danny Cass (from April1998)Dr Jonathan GillisProf Peter GunningA/Prof Cecelia LauProf Craig MellisProf Sue NagyDr Jenny PeatProf Peter Rowe

Form Review CommitteeResearch on humans is only ethicalif it is undertaken with theinformed consent of the parent,guardian or, where appropriate,child. The written explanation ofthe nature and risks of the researchand the consent form itself must bein straightforward and readilyunderstandable language. TheForm Review Committee reviewsthese forms and advises the EthicsCommittee.

MembersMs Ann Atkinson (until June1998)Mr Ian ButcherDr John Knight (until May 1998)Ms Alison Moore(from August1998)Ms Anne O’NeillMrs Vera Ryan

Children’s Hospital Fund

Annual Grants SchemeThis scheme is modelled closely onthe NH&MRC Project Grant sys-tem except that there are no inter-views. Funding is provided byresearch donations.

Chair Prof Kevin Gaskin

Acting ChairProf Craig Mellis


MembersDr Ian AlexanderProf Jeff BaileyA/Prof Danny Cass (from April1998)Dr Jonathan GillisProf Peter GunningA/Prof Cecelia LauProf Sue NagyDr Ken NunnDr Jenny PeatProf Peter Rowe

External MembersA/Prof Trish Davidson, John HunterHospitalProf Roger Dean, Heart ResearchInstituteProf Andrew Kemp, RoyalChildren’s Hospital MelbourneA/Prof Susan Quine, University ofSydney

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committeesRESEARCH REPORT 1999

committeesRESEARCH REPORT 1999

10

Children’s Hospital Fund

Small Grants SchemeThe Small Grants Scheme has beenrunning for five years, with threerounds a year, and is targetedspecifically at nurses, allied healthprofessionals, scientific officersand house staff in order to nurtureand encourage research in theseareas. This scheme is also fundedby research donations.

ChairDr John Knight (until March 1998)Prof Jeff Bailey (from March 1998)

SecretaryMs Anne O’Neill

MembersDr Lesley Adés (from May 1998)Dr Barbara Blades (until March1998)Prof Peter GunningA/Prof Cecelia LauMr Bruce Lord (until March 1998)Prof Craig Mellis (until November1998)Prof Sue NagyDr Jenny PeatDr Rahdika Santhanam (from May1998)Mr Andrew Williams (from May1998)

CMRI/NCH Joint Animal

Ethics CommitteeThis Committee reviews all propos-als for research involving experi-mental animals at the NewChildren’s Hospital and at theChildren’s Medical ResearchInstitute. The Committee’s mem-bership conforms to the relevantstatutory guidelines and reports tothe NCH Ethics Committee.

ConvenerDr Peter Jeffrey

MembersMs Luana FerraraA/Prof David IsaacsMr Richard JonesDr John Knight (until May 1998)A/Prof John OvertonProf Peter RoweMs Tanya Stephens

In AttendanceMs Kathryn Hancox

CMRI/NCH Joint

Institutional Biosafety

CommitteeThis Committee oversees workwith recombinant DNA.

ChairProf Peter Rowe

Secretary Dr Ian Alexander

MembersA/Prof John ChristodoulouMr Greg CraigDr Elizabeth DeaneDr John Knight (until May 1998)Mr John SymondsDr Roger Reddel

projects RESEARCH REPORT 1999

11

Name - Nick. Age 7.

“When I’m bigger I want to be a fireman. I would

drive the big fire engine and use the hose to put

out fires”

projectsRESEARCH REPORT 1999

12

Molecular Medicine

and Genetics

Gene Therapy Research

Unit

Gene Transfer TechnologyProgramA Turnbull, J Diao, J Dean, TTrahair, A Khatri, PB Rowe, JASmythe, IE Alexander

The potential of gene therapy as anapproach to the treatment of dis-ease is immense, but at presentlargely unrealised. The main obsta-cles to progress are technicalrather than conceptual. We under-stand a great deal about genes andthe critical role they play in thenormal growth, development andfunctioning of our bodies. Weunderstand how faults in genescause illness, why faults in differ-ent genes cause different patternsof illness, and in theory howhealthy copies of these same genescould be used to treat disease. Thechallenge is to deliver (or transfer)healthy genes from the test tubeinto the appropriate cells of thebody to repair genetic faults andrecover normal function. Ourapproach to this challenge is tostudy the way in which virusescarry genes into cells and to borrowsome of their tricks and strategies.This approach is proving to be verypowerful and provides the fuel thatis driving the other elements of ourresearch program.

Antiviral Research ProgramR Biti, P Fink, PB Rowe, IEAlexander, JA Smythe

The World Health Organisationestimates suggest that by the year2000 more than 40 million peoplewill be infected with HIV-1 and that

over 10 million people will havedied from the associated AIDS.Despite intense research over morethan 10 years since the virus wasdiscovered, there is no vaccine, andthe currently available drugs onlytemporarily limit disease progres-sion. Our study is designed to testa new strategy for the treatment ofHIV infection and AIDS that isbased on gene therapy. This proj-ect involves introducing a syntheticgene into cells that are normallyinfected by HIV, which will stop thegrowth and spread of the HIV virus.These experiments are designed toevaluate any toxicity, and provide'proof of principle' for the thera-peutic application of gene therapyfor the treatment of AIDS. Theresearch will provide valuable pre-clinical data by direct comparisonof several anti-HIV gene therapystrategies, and could significantlyinfluence our approaches to thefuture treatment of HIV-1 infectionin patients.

Cancer ImmunotherapyProgramG Logan, J Lees, C Smyth, P Fink,M Zheng, PB Rowe, IE Alexander,JA Smythe

Spontaneous generation of cancercells may be a relatively frequentevent in humans, but strict surveil-lance by the body's immune systemcan result in rapid elimination ofabnormal or mutant cells beforeprogression to disease. Tumoursdevelop on the rare occasion thatone of these mutant cells avoidselimination by the immune systemand continues to grow unabated.Since only approximately 50% ofthese cancers can be successfullytreated by a combination of sur-gery, radiation, and/or chemothera-py, there is a need to define alter-native therapies, and gene therapypresents a number of exciting pos-sibilities for the future. We are

focussing on the use of gene thera-py to treat solid tumours. Ourstrategy is to modify humantumour cells to enhance theirrecognition and rejection by theimmune system. By introducingspecific genes into human tumourcells we can render them suscepti-ble to recognition by specialisedimmune cells called T-lymphocytes.Once activated, these tumour-spe-cific T-lymphocytes are capable ofkilling both the gene-modifiedtumour cells, and any additionalunmodified tumour cells that theyencounter. In essence, the patientwill have been immunised againstthe cancer. The technology that wewill use to deliver the specifiedgenes to tumour cells has alreadybeen established, and proven suit-able for gene transfer to cancerpatient's in other clinical trials inthe U.S. Our task is to experimen-tally define the most appropriategene(s) for delivery, the optimalconditions for gene expression, andcompile sufficient data to justifythe application of this strategy tothe treatment of paediatric cancer.

Friedreich Ataxia ResearchProgramJ Fleming, JA Smythe, IEAlexander

Friedreich Ataxia (FA) is a slow butrelentlessly progressive neurode-generative condition caused byinheriting a pair of faulty genes(one from each parent) that nor-mally tell certain nerve cells in thebody how to make a protein calledFrataxin. The nerve cells mostaffected are located along the spinein little clusters called dorsal rootganglia or DRG for short. TheFrataxin gene was recently foundand isolated thereby raising thepossibility that this currentlyincurrable disease might one daybe treatable using gene therapy.The overall aim of this research is


13

to develop strategies for deliveringhealthy copies of the Frataxin geneinto the nerve cells in the DRG. Todate we have been successful indelivering test genes into DRGtaken from mice using a harmlessmodified virus called AAV. Not onlydid the genes get in to the nervecells but were switched on andkept working as long as we couldmaintain the DRG in the laboratory(up to 12 weeks). We are nowbuilding on this promising result.

Immunology and

Infectious Diseases

Laboratory investigation of suspected deficiency in fas-mediated apoptosis in afather and sonMG Hanlon, ML Gacis, AMKakakios, H Kilham

Autoimmune Lymphoprolifer-ativeSyndrome (ALPS, also known asCanale-Smith Syndrome) is anhereditary disease characterised byautoimmune and haematologicalabnormalities. One condition whichpresenta as ALPS results from thefailure of cells to undergo pro-grammed cell death (apoptosis). Inthis study, alternative methods fordetection of cell progression toapoptosis using Flow Cytometry,have been developed, and haveidentified at least two cases of thisrare disease.

Measurement of DNA ploidy inmalignancies, using flowcytometric techniquesML Gacis, M Wong, L Dalla-Pozza

A technique for the analysis of theDNA content and cell cycle index ofmalignant cells is applied to thedevelopment of a prognostic indica-tor. The study uses Flow Cytometrictechniques to perform theseanalyses on tissues simultaneously

examined by the HistopathologyDepartment.

Measurement of plasma lipidlevels in patients on lipid infusion, using ratenephelometryMG Hanlon, B Wilkins, L Baur

Plasma lipid levels may rise duringparenteral nutrition, potentiallyleading to Lipid OverloadSyndrome. This project investi-gates a rapid, simple and practicalmeans of measuring the plasmalipid content of patients.

Tissue transglutaminase antibody assayML Gacis, MG Hanlon

Tissue transglutaminase is report-ed to be the antigen which isdetected in the anti-endomysialantibody fluorescent assay. Thiswork involves development andevaluation of a new assay forautoantibodies thought to be diag-nostic of Coeliac Disease. Theassay is an ELISA method, poten-tially capable of significantlygreater throughput and more objec-tivity than the immunofluorescentantibody assay currently in use.

Intestinal Disease

Research and University

Department of Paediatrics

and Child Health

Pathogenesis of E. coliE O'Loughlin, Z Li, M Perry, EElliott, P Gunning

Studies of E.coli pathogenesisinvolving Enteropathogenic andShiga toxin producing E.coli areperformed in animal and cell cul-ture models of infection. We haveestablished two major lines ofinvestigation: 1. The examinationof the effect of shiga toxins on the

microvasculature of the smallintestinal mesentery of the rat util-ising intravital microscopy and 2.pathogenesis of the microbial-epithelial interactions in a coloncancer cell line. An invitro modelutilising cell cultures has beenestablished to investigate theresponse of the epithelial cell tobacterial attachment. Of primaryinterest is the immune modulatoryrole of the epithelium and the effectof cytoskeletal rearrangement,caused by the bacteria, on cellfunction. We have established acollaboration with Dr PeterGunning, to examine cytoskeletalchanges with E.coli infections.Preliminary studies indicate thatenterohaemorrhagic E.coli cancause major disruption of epithelialcell dysfunction without formingattaching effacing lesions or induc-ing major disruption of the corticalcytoskeleton. Our data suggestthat these E.coli may have patho-genic mechanism other than thosedescribed for typical attachingeffacing E.coli. Ongoing collabora-tion is attempting to define thesemechanisms.

Physiology of human smallintestinal electrolyte transportE O'Loughlin, G Pang, B Batey, RClancy

Studies of the effect of interleukin-2 on epithelial transport and prolif-eration in a novel human smallintestinal cell culture line. Thesestudies have demonstrated that theproinflammatory interleukin-2increases cellular proliferation andupregulates chloride secretion inthe cell line. The cells exhibit aspecific interleukin-2 receptorwhich when stimulated with IL-2induces signal transduction mecha-nisms including tyrosine phospho-rylation and release of STAT1,3and 5 and JNK.


14

Neurogenetics Research

Unit

A new syndrome of X-linkedepisodic weaknessM Ryan, P Taylor, R Ouvrier, GMorgan, M Buckley, K North

We have recently identified a novelneurological disorder characterisedby episodic weakness and X-linkedrecessive inheritance. Linkageanalysis on this family has con-firmed that the gene is in a 2cMregion on Xp22.3. We are nowstudying candidate disease genesin the region.

Molecular pathogenesis ofchildhood muscular dystrophies: the role of dystrophin associated proteinsK Jones, M Mills, N Yang, S Kim,K North

The muscular dystrophies are aclinically and genetically heteroge-nous group of muscle diseases.Until recently, the underlying geneand protein abnormalities resultingin these disorders were unknown.Hence definitive diagnosis, accu-rate genetic counselling and prena-tal diagnosis were not possible.Over the past few years an increas-ing number of new genes (alpha-,beta-,gamma-and delta-sarcogly-can and alpha2-laminin) have beenidentified, each of which is respon-sible for a subset of cases of mus-cular dystrophy. Despite this, thereremains a group of patients (~50%)in whom the genetic diagnosis isunknown. During 1998 we havestudied these ‘unknowns’ withantibodies to a number of newlyidentified proteins in the musclemembrane which are candidategenes for primary muscle disease.We have now identified 15 patientswith abnormalities of syntrophinand dystrobrevin. Primary abnor-

malities of these proteins have notyet been shown to cause humandisease. We aim to determinewhether these abnormalities areprimary or secondary by searchingmutations in the syntrophin anddystrobrevin genes. Identificationof mutations in either of thesegenes, and delineation of the asso-ciated clinical and pathological pic-ture will define a new neuromuscu-lar disorder.

Nemaline myopathy: genotype-phenotype correlation and thedevelopment of a transgenicmouse modelHuman Study: M Ryan, C Schnell,K NorthMouse Study: M Corbett, GDunglison, CS Robinson, J Joya, NYang, C Schnell, P Gunning, KNorth, E Hardeman

Nemaline myopathy is an inheritedchildhood onset muscle diseasewhich is characterised by the pres-ence of nemaline bodies (rods) inskeletal muscle. We have also col-lected clinical and pathologicaldata and muscle specimens from acohort of over 60 human patientswith nemaline myopathy fromaround Australia. We will correlatenewly identified mutational data inthese patients with their clinicaland pathological phenotype. In acollaborative project with theCMRI, we have developed an ani-mal model of nemaline myopathyby introducing a genetic defectidentified in an Australian familyinto the genome of a "transgenic"mouse. Concurrent studies andcomparison of humans and micewill provide a unique insight intothe mechanisms underlying muscleweakness in this disorder.

The role of alpha-actinin in theskeletal muscleN Yang, M Mills, K North

Alpha-actinin is a muscle proteinrelated to dystrophin, the proteinthat is deficient in the most com-mon form of muscular dystrophy.As part of our studies of childrenwith muscle disorders we havefound that 18% of people in thegeneral population are deficient inalpha-actinin-3. There is also a dif-ference between the incidence ofthe gene in different races. In theCaucasian and Asian populations ~one in five people are deficient inalpha-actinin-3. However, inAfrican Zulus the protein is defi-cient in only 3% of those tested.The difference between races maymean that where you live or howyou live decide the importance ofthe gene. We are now determiningwhether presence or absence ofthis protein influences muscle per-formance in the general populatio

Paediatric Intensive Care

Unit

Autoradiographic and immuno-histochemical localisation ofreceptors in the cardiopulmonary circulation ofchildren with congenital heartdiseaseD Schell, E Burcher, L Dias, GNunn, G Sholler

Whilst nitric oxide, a vasodilator,is likely to be one component oftherapy for patients with pul-monary hypertension, it is probablethat other chemical mediators playa role. Other researchers havefound increased blood levels of thepotent vasoconstrictor endothelinin some children with congenitalheart disease. This ongoing studywill determine if receptors of poten-tial mediators of pulmonary hyper-

15


tension (including endothelin, thetachykinins, and aldosterone) canbe found in the cardiopulmonarycirculation of children with congen-ital heart disease. Using fragmentsof tissue removed during routinecardiac surgery, receptors will beevaluated using the techniques ofautoradiography and immunohisto-chemistry. Preliminary studieshave demonstrated dense specificbinding of the endothelin-1 recep-tor on cardiac muscle cells of theatrium and ventricle, over the endo-cardium and over vasa vasorumand endothelium of the main pul-monary artery in a subgroup of chil-dren with congenital heart disease.The localisation of these receptorsin the cardiopulmonary circulationwill provide an insight into thefunction of these vasoactive pep-tides in children with congenitalheart disease and may lead to thedevelopment of novel therapiesaimed at inhibiting or enhancingthe function of these chemicalmediators. This work is part of aPhD thesis by Leonora Dias atUNSW.

Ray Williams Institute of

Paediatric Endocrinology,

Diabetes and Metabolism

Genetic predisposition to diabetes microvascularcomplicationsY Kao, KC Donaghue, A Chan, JKnight, M Silink

Whilst glycaemic control and dia-betes duration play an importantrole in the development of diabetescomplications, they contributed toless than 40% of the variation inretinopathy in the DCCT. Other sus-pected factors include genetic pre-disposition. This study looks at 4candidate genes for microvascularcomplications.

Immunological markers ofinsulin dependent diabetes mellitus and pre-diabetesR Laina, G Ambler, N Howard

Insulin dependent diabetes melli-tus (IDDM) is an auto-immune dis-ease where auto antibodies arepresent in blood for months oryears prior to the onset of clinicaldisease. The international stan-dard antibody test for detectingthis form of diabetes or pre-dia-betes has been the Islet CellAntibody - an indirect immunoflu-crenence assay using human pan-creas sections - an assay which istime consuming, expensive andencumbered with difficulties inreproducibility. The present studyis examining alternate assays inthe detection of pre-diabetes andIDDM, including anti glutamic aciddecarboxylase antibodies (antiGAD),insulin auto antibodies (IAA) andanti tyrosine phosphatase antibod-ies (IA-2). These assays have allbeen successfully established inthe Diabetes Research Laboratoryand have been shown to achieveacceptable sensitivity and specifici-ty in comparison with ICA at thetime of diagnosis of IDDM in chil-dren.

Levels of exposure of infants todietary phytoestrogensH Xiang, M He-Williams, M Silink,SC Boyages, P McVeagh, GEJoannou

Phytoestrogens are dietary plantoestrogen-like hormones foundmainly in legumes, fruit and soyfood products. Isoflavonoids andlignans form the major groups ofphytoestrogens. In humans, afterconsumption of plant phytoestro-gens, complex enzymatic metabolicconversions occur by the microflorain the gastrointestinal tract, result-ing in the formation of numerousphytoestrogens with varying

degrees of biological activities.Epidemiological and animal studiesshow that phytoestrogens haveboth beneficial and detrimentaleffects depending on the concentra-tion and type of phytoestrogenexposure. The metabolic fate of thetwo major isoflavonoids daidzeinand genistein found in soy wasrecently elucidated by our groupwith the identification of six newisoflavonoids. More recently thepositive identification of two newisoflavonoid metabolites has alsobeen accomplished in our laborato-ry. The new findings demonstratethe existence of a new pathway inthe catabolism of the majorisoflavones by the intestinalmicrobes for the first time. Becauseof the potential oestrogenic/anti-oestrogenic potency of these sub-stances and implication to suchconditions as menstrual irregulari-ty, infertility and breast cancer, anumber of research programmesare currently underway to investi-gate the levels and mode of metabo-lism of isoflavonoid phytoestrogensin pre-menopausal women andinfants exposed to high and low lev-els of phytoestrogens. These stud-ies will provide valuable data on theurinary levels of isoflavonoids andthrow new light on the effects of thedifferent metabolites in the prefer-ential pathways of catabolism inhumans exposed to dietary phytoe-strogens. The identify-cation andsynthesis of a number of newmetabolites including those pub-lished by us in 1995 provide us withthe opportunity to study the in vitroinhibitory effects of all knownisoflavonoid metabolites and theimpact these may have on cell mor-phology. This later study is partlythe subject of a PhD thesis and iscurrently material for a number ofpublications (3) and presentationsat three international conferencesoverseas. The study is expected tocontinue well into the year 2001.

16

New steroid markers: application to neonatal adrenalfunction and disordersM He-Williams, G Ambler, MSilink, GE Joannou

Our earlier investigations into thediagnosis of congenital disorders inhuman neonates resulted in theidentification of new steroidspathognomonic of adrenal steroiddysfunction. In neonates disordersof adrenal dysfunction such as con-genital adrenal hyperplasia (CAH)are life-threatening and requireearly diagnosis and treatment.Existing steroid determinants arenon-specific and are common to bothnormal and disease states. Ourresults, supported by other workersin this field, show that the newsteroid markers are confined to thedisease states. Because thesemarkers are products of foetal tis-sues, which are known to persistearly in life, makes these markersunique steroid determinants for theearly diagnosis of CAH. It is the aimof this study to produce a new andmore reliable immunoassay methodfor use in newborn screening pro-grammes for CAH. Although thesynthesis of the steroid conjugate(hapten) for the coupling to a carri-er protein through an oxime groupat carbon 19 (BSA-conjugate) hasbeen successful using 17a-hydrox-ypregenolone as a model compound,lack of funds has not permitted thecontinuation of this study.

The role of enteroviruses in thepathogenesis of IDDM in childrenM Craig, N Howard, M Silink,WDR Rawlinson

IDDM is known to be a T-cell medi-ated disease which occurs in genet-ically susceptible individuals. Thiscase-control study is exploring therelationship between enteroviralinfection at the time of diagnosis of

IDDM and genetic risk factorsincluding HLA subtyping.Significantly higher rates ofenteroviral RNA positivity havebeen found in IDDM children com-pared with controls in this study todate. A questionnaire examiningother environmental risk factors isalso being administered to casesand controls.

Surgical Research

A study on the function of anovel anti-Mullerian hormonereceptor in ovarian tumourGC Yang, J Leary, D Cass

Anti-Mullerian hormone (AMH) isproduced and secreted as a circu-lating sex hormone by immatureSertoli cells in the testis and post-natal granulosa cells in the ovary.This glycoprotein causes regres-sion of the embryonic Mullerianduct and has been shown to exhibitinhibiting effects on several typesof tumour cells. By using reversetranscription PCR we found a trun-cated MIS receptor transcript inhuman ovarian tumour cells andnormal ovary (in addition to thefull-length MIS receptor tran-script). Sequence of this new tran-script is identical to the full-lengthMIS receptor transcript except forexons 9 and 10 which are absent inthis mRNA, suggesting it was gen-erated by alternative splicing.Analysis of RNA from 20 epithelialovarian tumours has also resultedin demonstration of the alternatetranscript in addition to the normalreceptor transcript. However, therelative expression of the two tran-scripts is dramatically different inthe normal when compared withtumour tissue. In normal tissuethe expression of the full-lengthtranscript is greater than the trun-cated form and conversely intumour tissue the expression of

truncated transcript is muchgreater than the normal transcript.The novel receptor cDNA wascloned in an expression vector.Transfection studies have demon-strated the novel receptor tran-script could direct a receptor pro-tein in these cells. This observationsuggests that the overexpression ofthe novel MIS receptor may berelated to tumorigenesis in theovary. An investigation is inprogress to define the functions ofthe novel MIS receptor. This studyis important in providing with amarker for early diagnosis of pri-mary cancer and developing MIS asa therapeutic agent against epithe-lial ovarian tumours.

Expression patterns of theendothelin-B receptor gene inthe spotting lethal rat duringembryogenesisAL Zhang, D Cass, P Tam

The endothelin-B receptor geneplays an important role in thedevelopment of neural crest-derived cell lineages. Our previousstudy has shown that the intersti-tial deletion of endothelin-B recep-tor gene contributes to the pheno-types of aganglionosis and hypopig-mentation in the spotting lethal rat.To further understand the molecu-lar consequences of the endothelin-B receptor signal transductionpathway we have investigated theexpression pattern of endothelin-Breceptor gene during the embryonicdevelopment in both the mutantand wild type spotting lethal rat.The result of the study will lead tofurther studies of the role endothe-lin-B receptor signal system in thedevelopment of enteric neurons inthe gut during the embryogenesisand help us to understand thepathogenesis of Hirschsprung'sdisease.



17

Genetic analysis of horse lethalwhite syndrome (LWFS): aHirschsprung's disease modelGC Yang, D Croaker, AL Zhang, PManglick, D Cass

LWFS is a congenital anomaly ofhorses characterised by a whitecoat colour and aganglionosis ofthe bowel, which is analogous toHirschsprung's disease. We haveisolated and identified a full-lengthcDNA for horse endothelin-B recep-tor. Sequence comparison togetherwith the amplification-createdrestriction site (ACRS) techniquerevealed a dinucleotide TC to AGmutation, which changed isoleucineto lysine in the first transmem-brane domain of this receptor pro-tein. Genetic information from thisobservation will bring benefits tothe understanding of domain func-tion of endothelin-B receptor.

Identification of the gene thatmodifies EDNRB induced aganglionosis in the SpottingLethal rat, a Hirschsprung'smodelGC Yang, P Manglick, AL Zhang,D Cass

Our laboratory found that intersti-tial deletion of the endothelin-Breceptor gene in the spotting lethal(sl) rat was responsible for agan-glionosis. The length of agan-glionosis induced by the defectivegene was observed to be shortenedby backcross breeding, suggestingthat an introduced genetic modifiercould compensate for the loss ofthe endothelin-B receptor. Thisproject is designed in the firststage to localise the gene to a chro-mosomal subregion by linkageanalysis using fluorescent labelledmicrosatellite markers. We haveidentified a series of microsatellitemarkers suitable for the linkageanalysis and have scanned sometarget chromosomes with several

candidate genes. Confirmation ofthe genetic locus and investigationof the comparative gene map inhuman, mouse and rat will beundertaken to further identify themodifier gene and define its func-tion.

Mullerian inhibiting substance(MIS) gene function in development of Hirschsprung'sdiseaseGC Yang, R Hsu, P Manglick, DCass

Mullerian inhibiting substance(MIS) {also called anti-Mullerianhormone (AMH)} causes regressionof the Mullerian duct during maleembryogenesis. The impairment ofMIS function by either MIS defi-ciency or receptor defects leads tothe development of persistentMullerian duct syndrome (PMDS),characterised by the presence ofuterus and tubes in normal 46, XYmales. The first patient with com-bined PMDS and HIrschsprung'sdisease was reported by ProfessorCass. The patient was found tocarry a missense mutation of MISgene (H506Q MIS). We havecloned normal MIS and the mutantH506Q MIS genes into mammalianexpression vectors together withsequences encoding viral V5 andpoly-histidine epitopes to produceMIS fusion proteins. Expressionstudies have shown H506Q MISprotein is expressed invitro with noobvious difference in stability com-pared to MIS. This could provide asimple measure to purify bioactiveMIS and H506Q MIS proteins. Thepurified MIS and H506Q MIS pro-tein will be used in an vitro modelto investigate the gene interactionbetween MIS/MIS receptor andGDNF/RET and EDN3/EDNRB.

Oesophageal atresia studyJ Orford, D Cass, M Glasson, PManglick

Oesophageal Atresia is a congeni-tal malformation characterised byfailure of continuity of the oesopha-gus often in association with a tra-cheooesophageal fistula. Malformationof other organ systems may bepresent. The project includes: 1.Animal Studies : The adriamycinrodent model of oesophageal atre-sia and associated malformationshave been reproduced. A dosepathology response has been estab-lished and the morphology of nor-mal and abnormal embryologicaldevelopment of the foregut tube isunder investigation. Studies ofapoptosis in the affected area arebeing performed. 2. Human Database.A large database of clinical caseshas been collected for ongoing clin-ical studies.

The Institute of Pathology

Cerebrospinal fluid neurotransmitter studiesJW Earl, CE Nath, PJ Shaw, JCoakley

Several new methods are beingdeveloped and introduced, toimprove detection and investiga-tion of patients with defective neu-rotransmitter production.

Cytokines in verticaltransmission of HIVA Kesson

Cytokines IL-1, IL-6 and TNF-A allincrease HIV replication. Unlikeadult macrophages, placentalmacrophages do not produce TNF-A and do not support HIV replica-tion to the same extent. Thisabsence of TNF-A may be partlyresponsible for the low incidence oftrans-placental HIV transmission.


18

Neurotransmitter investigationsof children with Attention DeficitHyperactivity DisorderJW Earl, DR Dossetor, K Nunn

Preliminary results have indicatedthat Serotonin Selective ReuptakeInhibitor (SSRI) drugs alter thelevels of neurotransmitters, theirmetabolites and certain cofactorsin blood and urine. The changingresponse to SSRI therapy over timein children with ADHD appears tobe physiological rather than phar-macological. New analytical proce-dures are being developed to inves-tigate and monitor these changesand improve treatment.

Purine and pyrimidine biochemistryJW Earl, J Coakley

Urinary levels of xanthine, hypox-anthine and inosine are beingmeasured in a range of patients inorder to detect deficiencies inpurine metabolism. Further work isbeing undertaken to enable detec-tion and improve analysis of othermetabolites of the purine andpyrimidine pathways.

Transcriptional regulation of cellsurface recognition moleculesby flavivirusesAM Kesson

Flaviviruses cause diseases suchas Murray Valley Encephalitis andDengue Fever. Flaviviruses have aunique effect upon concentrationsof certain proteins on the surface ofcells when triggering an immuneresponse. These effects will beinvestigated in this study.

Transferrin receptor measurementsP Beal, A Lammi, V Schlumbom

A method for measuring serumtransferrin receptor will be devel-oped. The new assay will be used inconjunction with iron and ferritinanalysis for investigating adoles-cents with anorexia nervosa.

Western Sydney Genetics

Program (Academic Unit

In Medical Genetics)

Monitoring the response totherapies in children withmucopolysaccharidosis type ID Sillence, M-L Freckmann

This study set out to review allchildren and adults with thelysosomal storage disorder,Mucopolysaccharidosis type I inNSW. The purpose of the studywas to use the review to evaluate aprotocol which could be used withthese very disabled children if theyreceived bone marrow transplant-ation or enzyme replacementtherapy.


Program (Biochemical

Genetics And Newborn

Screening)

Defining the optimal protocolfor the diagnosis of fatty acidoxidation defectsK Sim, K Carpenter, J Hammond, BWilcken

There are at least 16 inherited dis-orders of fatty acid oxidation(FAOD), all rare, and most onlyrecently described. Clinically theypresent in diverse but overlappingways, with either a hepatopathy, orskeletal or cardiac muscle diseaseor a combination of these.

Diagnosis depends on specificenzyme assays, which are time con-suming and expensive. We havebeen investigating new diagnosticmethods, using tandem mass spec-trometry analysis of blood and cul-tured skin fibroblasts, as screeningtests to indicate the level of the dis-order, in an individual patient, andto optimise the diagnostic process.

Molecular studies of autism andanorexia nervosaR Urwin, K Nunn, B Bennetts, BWilcken

Obsessional symptoms of autismand anorexia nervosa respond toantidepressants blocking the sero-tonin transporter. We hypothesisethat serotonin transporter gene is asusceptibility gene for these disor-ders. We will use a transmissiondisequilibrium approach (testingaffected subjects and both of theirparents) to investigate the contri-bution of polymorphisms in thisand other related genes to thedevelopment of the disorders.


Program (Cytogenetics)

Cytogenetic abnormalities inlymphomaA Smith, N Watson, P Sharma, JRobson, L Gallo

Lymphoma is a common malignan-cy among adults. Not all arereferred for cytogenetics andindeed most are not. Some centresconsider cytogenetic results usefulin patient assessment and comple-mentary to disease phenotype. Thework on assessing the cytogeneticinvestigation of patients with lym-phoma from one major haematol-ogy clinic, with full evaluation ofreferral, tests, treatment and out-come, is ongoing. It has been sup-plemented by the use of FISH with


19

N-myc probe (locus at 8q24) todetermine gene amplification asthis may further define a subset ofpatients with lymphoma for whomcytogenetic testing should be partof the diagnostic protocol.

Development of chromosomemicrodissection techniquesA Daniel, P Malafiej, Z Wu

Development of chromosomemicrodissection techniques. Suchtechniques can be applied widelyacross diagnostic and researchproblems in Genetics. The technol-ogy is at the cutting edge and is dif-ficult, involving the use ofmicropipettes for the microsurgeryof single chromosomes and chro-mosome regions within a singlecell. Dissection is under oil wherefragments are transferred to abuffer droplet by a micromanipula-tor. The amplification of dissectedDNA will be attempted via DOP(degenerate oligo primer) and ligedspecific primer techniques.

Establishing a high resolutionchromosome bandingideogram between the 550 and850 levels of resolutionN Chia, L Bousfield, A Daniel

The 850 band level does not facili-tate the routine analysis of struc-tural rearrangements. Many subtlerearrangements have to be inter-preted at the 700 band level or lesswhere the origin of breakpoint loca-tion is ambiguous using the 850ideogram. It is intended to reviewthe banding patterns of each chro-mosome over a 1-2 year period andconstruct an ideogram showing the550, 850 and the new 700 band lev-els side by side. Once published, weare confident this will become avaluable resource for the analyticalcytogeneticist.

What constitutes Nmycamplification in neuroblastoma?A Smith, P Shaw, C Cooke-Yarborough, S Arbuckle, L Robson

N myc amplification is known toadversely affect outcome inpatients with neuroblastoma (Nb).Double minutes seen on cytogenet-ics are also indicators of geneamplification but the correlation ofthese two findings has been elu-sive. DNA ploidy studies do notprovide an accurate assessment ofN myc amplification. FISH with Nmyc probe, used in a number ofpatients, has defined 3 categoriesof amplification - only two signalsand clearly no amplification; 3 - 12signals with intermediate amplifi-cation; clear cut "massive" amplifi-cation with signals too numerous tocount. We are continuing with theevaluation of the significance ofintermediate amplification.


Program (Cytogenetics

and Molecular Genetics)

The investigation of confinedplacental mosaicism and uniparental disomyA Daniel

Essentially, mosaicism detectedduring prenatal diagnosis is some-times resolved to an apparentlynormal karyotype at least in amni-otic fluid or blood. However, theapparently normal karyotype mayhave undetected UPD. UPD is theinheritance of both chromosomes/regions from one parent instead ofhalf from each parent. This phe-nomenon can be involved in thecausation of malformations despitethe normal karyotype since appar-ently it is critical for fetal develop-ment to inherit a chromosome fromeach parent to construct thegenome of a normal individual.

The phenotype in triploidy andthe parental origin of the extrahaploid genomeA Daniel, Z Wu

Triploid conceptuses are observedto exhibit fetal demise at severallevels of gestation. The reasons forthis are unclear but parental originof the extra haploid genome and adifferential tendency to form a par-tial hydatidiform molar pregnancyare certainly involved. As cases areascertained by the laboratory infre-quently via fetal pathology and pre-natal diagnosis, cells will be kary-otyped, archived in liquid nitrogen,fetal pathology performed in con-cert with Anatomical PathologyDepartments of the several clienthospitals, and DNA extracted fromparental bloods and cultured tis-sues to address these issues.


Program (Marfan Research

Group)

Definition of mutations in thefibrillin-1 gene in patients withMarfan syndrome and Marfan-related phenotypesLC Adés, M West, K Summers, EAHaan, K Holman

This research is aimed at definingmutations in the fibrillin-1 (FBN1)gene responsible for the clinicaldisorders Marfan syndrome andautosomal dominant ectopia lentis.Additional patients with a Marfan-like phenotype including patientswith Shprintzen-Goldberg syn-drome, Furlong syndrome, Idahosyndrome, progressive kyphoscol-iosis, and patients with skeletalfeatures of Marfan syndrome arealso being studied. We aim to char-acterise the FBN1 gene mutationsin these patients (using techniquessuch as SSCP, direct DNA sequenc-ing, restriction enzyme analysis,RT-PCR and cloning), and examinewhether or not a correlation exists


20

between their clinical features, thesite and type of the FBN1 genemutation, and the amount of extra-cellular fibrillin deposition. We arehopeful that this work may lead tothe development of an Australia-wide diagnostic service for familieswith Marfan syndrome, using directmutation analysis as part of a com-prehensive strategy.

Effects of mutations in FBN1on interactions between fibrillin and transforminggrowth factor-B in MarfansyndromeM West, LC Adés, S LeBrocque, MNataatmadja, K Summers, KHolman

This research is directed atfocussing specifically on the inter-action between fibrillin, the abnor-mal protein in Marfan syndrome,and transforming growth factorbeta, an important growth regula-tor. The interaction between thesetwo factors may be critical in thedevelopment of normal tissuestructure. The study may lead tothe identification of a new functionfor fibrillin- that of a storage pro-tein for TGF-beta, with a role in theexport of TGF-beta from the cell,and in the modulation of cellgrowth and gene transcriptionactivity.

FBN1 and FGFR gene mutation screening in patientswith a Marfanoid phenotypeand craniosynostosisLC Adés, T Roscioli

This recent collaboration is to lookspecifically at an unusual smallgroup of ten or so patients whohave Marfanoid skeletal features,but may not meet the clinical diag-nostic criteria for Marfan syn-drome. In addition, the patientsalso some form of craniosynostosis.We seek to explore the possibility

that the underlying pathogeneticmechanism in these patients maybe of digenetic inheritance for aFBN1 gene mutation, together witha mutation in either the FGFR1,FGFR2 or FGFR3 gene.

FBN1 gene mutationscreening and gene expression studies in theMarfan syndromeLC Adés, M West, K Summers, KHolman

This study aims to correlate find-ings between FBN1 gene mutationsin Marfan syndrome and geneexpression and localisation of TGF-beta, fibrillin and LTBP (latenttransforming growth factor bindingprotein) in Marfan fibroblast cellcultures of skin and aorta inpatients that have undergone aorticbypass graft surgery.


Program (Metabolic

Diseases Research

Laboratory)

A molecular genetic study offamilial Mediterranean feverT Roscioli, B Bennetts, LMcQuade, RK Kamath, M Murrell,J Christodoulou

Familial Mediterranean Fever(FMF) is an autosomal recessivedisorder characterised by periodicepisodes of fever, abdominal pain,arthritis and rash. There is often adelay in the diagnosis because ofits many features, and affectedindividuals often have had a num-ber of unnecessary surgical proce-dures before the diagnosis has beenmade. It is particularly common incertain ethnic groups, with a carri-er rate for the disorder being up to1 in 7 in some of these groups.With the recent identification of thegene responsible for FMF has come

the ability to perform definitivegenetic testing for the disorder, andthe opportunity to explore pheno-type-genotype correlations. We arestudying a cohort of 18 patientswith this disorder using a PCRbased strategy.

Evaluation of dihydrorhodamine 123 in thescreening of patients withdefects of the mitochondrialrespiratory chainK Setterfield, AJ Williams, J Christodoulou, M Hanlon

The mitochondrial respiratorychain disorders can have devastat-ing consequences in some patients,often striking infants and youngchildren. In contrast, other patientsmay have only relatively mild clini-cal problems. In this project weare developing a screening strate-gy, using fluorescence activatedcell sorting techniques and themitochondrial probe dihydrorho-damine 123, that would allow us torapidly obtain stronger biochemicalevidence from blood samples thatthe symptoms in a particular childare due to a mitochondrial respira-tory chain disorder. Preliminaryresults are encouraging, and weare currently further improving thesensitivity of this method by incor-porating the use of specificinhibitors of the mitochondrial res-piratory chain.

Hyperprolinaemia in VCFSsyndromeR Sachdev, K Green, L McQuade,M Wilson, A Colley, JChristodoulou

Recent reports have suggested thatpatients with Velo-Cardio-Facialsyndrome (VCFS) associated with alarge deletion of chromosome 22qalso have raised blood proline lev-els because one copy of the prolineoxidase gene is lost. To evaluate


21

this further we have undertaken astudy to quantitate plasma prolinelevels in a cohort of 22q11 deletedVCFS patients. Whether this mightplay a role in the pathogenesis ofVCFS remains to be established.

Identification of the gene(s) forcytochrome c oxidase deficiencyD Thorburn, H-HM Dahl, JChristodoulou, D Mowat

We are collaborating with thegroup from the Murdoch Institutein Melbourne, aimed at identifyingthe gene or genes responsible forcytochrome c oxidase (COX) defi-ciency in the Lebanese community,which have a high level of consan-guinity, and which COX deficiencyappears to be relatively common.These studies have identifiedpotential loci on chromosomes 17and 20. Further homozyogisitymapping is proceeding to furtherrefine the critical regions, with can-didate gene mutation screening tofollow.

Is a deletion of chromosome 8passociated with a recognisedphenotype?R Sachdev, L McQuade, J Christodoulou, A Colley,M Wilson

It has been suggested that a dele-tion of the distal segment of theshort arm of chromosome 8 may beassociated with a recognisable syn-dromic phenotype. We have identi-fied a number of patients who havea similar phenotype. These patientswill be screened for 8p deletionsusing a combination of FISH probesspecific for 8p and the centromericregion of chromosome 8.

Molecular characterisation ofbirth defects on human chromosome 22A Colley, J Christodoulou, MJWilson, LR McQuade

Individuals with the genetic syn-drome CATCH22 share clinical fea-tures including heart abnormalitiesfrom birth, hard and soft palateabnormalities, learning difficultiesand growth problems. This disorderis associated with the loss of a vari-able amount of DNA on chromo-some 22 (called a deletion). In upto a quarter of cases this may havebeen inherited from one of the par-ents, and the clinical problems mayincrease in severity from parent tochild. Using PCR based haplotypeanalyses, we have studied a cohortof family members with an inherit-ed CATCH22 syndrome. Our stud-ies indicated that there did notappear to be a change in the dele-tions during transmission from par-ent to child that could be related tothe variation in clinical featuresfrom the parent and child. We havealso characterised atypical dele-tions which we have identified intwo patients, whose deletions weredistal to the "common" deletion,and outside the minimal critical diGeorge region. This informationwill potentially lead to insights intothose genes responsible for the var-ious clinical features seen inCATCH22.

Molecular studies of galactosaemiaJ Christodoulou, M Murrell, BWilcken, V Wiley

Classical galactosaemia occurs innewborns in Australia with a fre-quency of approximately 1:50,000,so that about five will be born eachyear. Babies with galactosaemiaquickly develop symptoms after theinstitution of milk feeds, with about80%, resulting in death in the new-

born period unless treatment ispromptly instituted. In the remain-ing 20% there is a more insidiousonset, with failure to thrive, liverfailure, and cataracts. We havebeen characterising the range ofgenetic changes (mutations) thatgive rise to galactosaemia usingthe new mutation screening strate-gy called enzyme mismatch cleav-age (EMC) analysis. We have sys-tematically studied a cohort affect-ed individuals, and identified arange of previously described muta-tions as well as several novel muta-tions. We are now in a position toassess the relationship between aparticular mutation and its conse-quence on the affected individual(so-called phenotype-genotype cor-relations).

Rett syndrome: diagnostic evaluation and therapeutic strategiesJ Christodoulou, C Ellaway, HLeonard, G Higgins, B Wilcken, MThomson

Rett Syndrome is believed to be themost common cause of progressiveintellectual disability in females,with over 200 affected girls knownto exist in Australia. It is a pro-gressive disorder of neuropsycho-logical development of unknownaetiology, and is characterised byearly normal development followedby loss of previously attained skills(regression), acquired decelerationof head growth, autistic-like behav-iour, unsteadiness with walking(ataxia), stereotypic hand move-ments, and unexplained rapidbreathing (hyperventilation). Thevirtually exclusive occurrence ofthe syndrome in females and theidentification of a few familialcases with inheritance throughmaternal lines suggest that thisdisorder may be due to a geneticfault (mutation) in a gene on the Xchromosome, However, the genetic


22

basis for this disorder remains tobe established, and to date no effec-tive treatment has been identified.In a short term study, we havedemonstrated that the vitamin car-nitine is of value in a proportion ofaffected individuals, although it isnot possible to predict whichpatients will benefit based on his-torical information. A longer termstudy is currently underway.During the course of our geneticstudies into Rett syndrome wehave identified a novel polymor-phism in the mitochondriallyencoded 16S rRNA gene. To inves-tigate the hypothesis that the generesponsible for Rett syndrome islocated on the X chromosome, weare undertaking molecular geneticstudies of a number of families withmore than one affected individual.


Program (Metabolic

Diseases Research

Laboratory) and Institute

of Pathology

Functional and molecular analysis of defects of the mitochondrial electron transportchainJ Christodoulou, AJ Williams, JCoakley

The mitochondrial respiratorychain disorders are a devastatinggroup of progressive disorders,which in most affected people inter-fere with muscle and/or intellectualfunctioning. Up until now, it hasnot been possible to give manypatients and their families accurateinformation on the genetic implica-tions of the disorder, or to developuseful therapies in a systematicmanner. Using cultured cells fromaffected patients, we have devel-oped a novel method which willpermit us to categorise patients ashaving a defect in either a nuclear

encoded or mitochondrially encod-ed gene. Our next step will be todevelop methods to identify thegenes responsible for the disorderin these individuals.

Biochemical and moleculargenetic evaluation of multiplerespiratory chain defectsAJ Williams, J Minchenko, ITrounce, J Christodoulou

Multiple defects of respiratorychain complexes are caused bymutations in either the nuclear ormitochondrial genomes. Methodshave been developed to provideinformation about the probableinheritance pattern in affected fam-ilies.


Program (Molecular

Genetics)

Identification of susceptibilitygenes involved HIV infectionusing association studies withinternal controlsGJ Stewart, BH Bennetts, B Brew,Gold, L Burnett

This project was undertaken in theDepartment of Immunology atWestmead Hospital. A number ofgenes, particularly CCR5, havebeen identified which stronglyinfluence susceptibility to HIVinfection and also disease progres-sion. The study aimed at recruitingtrio families (affected & both bio-logical parents). These samplesand case/control samples form thebasis of ongoing genetic studiesaimed at identifying genes involvedin susceptibility to HIV infectionand disease progression.


Program (Molecular

Genetics), Neurogenetics

Research Unit and

Westmead Hospital

Identification of susceptibilitygenes in multiple sclerosisusing linkage analysis in multiplex families and association studies with internalcontrolsBH Bennetts, GJ Stewart, RNSHeard, R Simmons

This project was undertaken in col-laboration with the Department ofImmunology at Westmead Hospitaland the Neurosciences ResearchUnit, The Canberra Hospital.Multiple sclerosis is a complexgenetic disease with many heredi-tary factors. The study aimed atrecruiting families with multiplecases of MS and trio families(affected and both biological par-ents). These samples form thebasis of ongoing genetic studiesaimed at identifying genes involvedin susceptibility to MS.


Brain and Nervous

System

Psychology

Neuropsychological outcome inTurner's Syndrome: sex chromosomes and the functional organisation of thebrainP Joy, J Christodoulou, CD Rae, CCowell, M Wilson, M Coltheart

This project will investigate therelationship between sex chromo-somes and brain function with theaim of increasing our knowledgeabout normal and abnormal devel-opment. There is extensive litera-ture indicating quite specific sexdifferences in cognitive abilitiesand the significant influence of sexchromosomes (and hormones) onbrain function. However, the exactnature of the relationship is stillunclear. Conditions with sex chro-mosome abnormalities (such asTurner's Syndrome (TS) provide aunique opportunity to study theway in which changes in sex hor-mones influence cognitive function.In this study neuropsychological,medical and neuroimaging (MRS)data will be collected on 24 chil-dren with TS and 48 children (24girls and 24 boys) without TS.Results will be analysed to deter-mine the nature of sex differencesin neuropsychological functionsand the relationship of this to sexchromosomes and brain biochem-istry.

Rehabilitation,

Physiotherapy, Social

Work, Occupational

Therapy, Psychology,

Speech Pathology, and

Nursing

Paediatric traumatic brain injuryoutcome - the Westmead multidisciplinary studySJ O'Flaherty, A Chivers, CDoggett, S Duff, T Hannan, KHobbs, L Kendrick, L McCartney,M Wallen, L Clemson, S Mackay

Little is known about the outcomeof Australian children followinghead injury, particularly those withmild head injury. This was a multi-disciplinary study aimed at examin-ing the functional outcome of chil-dren with traumatic head injury.Subjects were 51 children withtraumatic brain injury admitted toWestmead Hospital from July 1992to December 1994. This group anda hospitalised control group wereevaluated by a multidisciplinaryteam during admission and at 6months and 2 years followinginjury. Each discipline collecteddiscipline-specific data. The out-come variables included medicalvariables, gross motor abilities,upper limb function, cognition, per-ception, behaviour, family function,ability to complete activities ofdaily living such as dressing andfeeding, communication, andschool performance. The data col-lection is complete and beinganalysed during 1998, with resultsavailable in early 1999.

T.Y. Nelson Department of

Neurology and

Neurosurgery

Health related quality of life inchildhood epilepsyAM Bye, AF Bleasel

This project aims to measurehealth related quality of life(HRQOL) in a group of children (5-18 years) with intractable epilepsyusing measures of childhoodHRQOL. To date there is no instru-ment which measures quality of lifeissues specific to children withepilepsy. Children whose seizureshave been recorded with video andsimultaneous EEG recording areincluded in the study. The researchaims to determine whether particu-lar epilepsy syndromes and neu-ropsychological functioning in chil-dren predict HRQOL outcomes.The project will also examine thechanges in HRQOL following sur-gery in children with intractableepilepsy.

Quantitative MRI in childhoodepilepsyAM Bye, MJ Cook, AF Bleasel, JALawson

Correlation of Childhood Epilepsysyndromes with quantitative MRImeasures of hippocampal volumesand brain volumes. The anticipatedresults will refine the presentInternational ILAE classificationwith greater emphasis on aetiologyand pathogenesis. This will be ofgreat relevance to the young childwhere we expect the concordanceof epileptic syndrome to MRI-detected structural abnormalitieswill be weakest.

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Program (Clinical

Genetics)

Huntington Disease:Neurological assessment ofpotential gene carriers presenting for predictive DNAtestingE McCusker, F Richards, DSillence, M Wilson, R Trent

Potential gene carriers at 50% riskof inheriting the Huntington dis-ease (HD) mutation and presentingfor predictive testing underwentneurological assessment beforeknowledge of their gene status.Records of these examinations byone neurologist (EAMcC) werereviewed. The association betweenpre-result symptoms and minimalneurological signs and gene statuswas determined. After exclusions,61% of gene positive patients hadminor neurological signs whereasonly 8% who tested gene negativewere recorded as having signs.The findings in this study waveimplications for studying the trueclinical onset of neurodegenerativediseases which will be particularlyrelevant if neuroprotective agentsor other therapies become avail-able.

Gastrointestinal

System and Liver

James Fairfax Institute of

Paediatric Nutrition

Body composition in metabolicdiseaseJ Allen, IRJ Humphries, K Gaskin

Our work in children withphenylketonuria has demonstratedmoderately severe deficits in bothbone mineral density and body pro-tein content. Potentially thesepatients are at risk from osteoporo-sis in adulthood. We are now sur-veying groups of patients withmetabolic disease on low protein(eg maple syrup urine disease) orlack of dairy food diets (eg galac-tosaemia) to determine whetherthe abnormalities found in PKUchildren are common to children onlow protein, no dairy product diets.

Body fluid compartment sizeusing non-invasive technologyI Humphries, K Gaskin, RHowman-Giles, J Allen

This project was designed original-ly to determine whether the com-bined data from the total body pro-tein monitor and DXA could beused to determine total body water.In addition, could the protein moni-tor measure total body chloride. Ifso, these scans with a maximumscan time of 30 minutes would cir-cumvent the prolonged time formeasurement of total body waterand extracellular fluid volumeusing dilution techniques.Moreover, the new techniqueresults would be available immedi-ately, as opposed to the 1-2 weeksfor results of measuring deuteriumoxide and bromide. The mincemeat phantom experiments confirmthe utility of the new scanning

techniques and their accuracy andprecision. Studies in human adultswill commence in 1999 comparingthe scanning and stable isotopedilution techniques.

Fluid secretion and liver diseasein cystic fibrosisK Gaskin, MA Gruca, A Georga, SDutt

This project was designed to deter-mine (i) pancreatic-biliary fluidsecretion in cystic fibrosis patientswith and without liver disease; and(ii) if fluid flow is altered by theoccurrence of common bile ductobstruction. Recruitment for thisproject is complete and most of thepatients are into the second orthird year of the study. Within thisstudy we are also assessing thelithogenicity and viscosity of bile inCF patients with and without liverdisease.

Intestinal phospholipid metabolism in cystic fibrosisK Gaskin, H Nouri-Sorkhabi, PKuchel, S Dutt

We proposed to investigate secre-tion of the pancreatic glycoproteinGP-2 into the intestine in CFpatients with varying degrees ofpancreatic dysfunction. Further,we wish to determine whether GP-2 binds to lysolecithin (lysoPC) andserves as a detoxification mecha-nism when lysoPC is produced bythe hydrolysis of lecithin. In ourcurrent work we have been able topurify GP-2 from pancreatic juiceand have shown that it binds phos-pholipids, including lysolecithin.In our recent study, now acceptedfor publication, we have demon-strated that in juice from pancreat-ic insufficient patients, oral enzymereplacement therapy (OERT)hydrolyses lecithin to lysoPC butfails to hydrolyse the latter to glyc-erophosperocholine. LysoPC could


build up in toxic concentrationsand we are assessing this inresponse to different strengths ofOERT by measuring lysoPC produc-tion in vitro in intestinal fluids andstools from CF patients.

University Department of

Paediatrics and Child

Health

Energy expenditure and substrate use in anorexia nervosaJ O'Connor, J Allen, K Gaskin, MKohn, S Clarke

Anorexia nervosa is the third mostcommon chronic disease amongstadolescents. Nutritional rehabilita-tion is an important part of man-agement of anorexia nervosa.However, little is known about themost effective form of refeeding. Inthis study, patients with anorexianervosa had their rate of metabo-lism measured before and afternutritional rehabilitation. Initialresults suggest that, when patientswith anorexia nervosa subjects aregiven a fat-containing meal, thentheir rate of metabolism is lowerthan when given a carbohydratemeal. This suggests that low-weight anorexia nervosa subjectsare energy-inefficient in the use ofcarbohydrate as a fuel.

Energy expenditure in healthyyoung childrenLA Baur, E Ball, K Gaskin, K SSeinbeck, J O'Connor, PSW Davies

Obesity is an increasingly prevalentproblem in the Australian commu-nity, including in young children.In order to understand how best toprevent this problem, we need to beable to accurately measure thelevel of physical activity and totalenergy expenditure and the foodintake of pre-adolescent children.

In this study, parents of 70 childrenaged 6-9 years kept a record oftheir child's levels of activity andfood intake over a three day period,during which time the child worean activity monitor ("accelerome-ter"). At the same time, the doublylabelled water technique wasemployed to measure total energyexpenditure over a full ten day peri-od, while the child was going abouthis or her usual activities at homeand at school. Preliminary resultsshow that these healthy childrenhave wide range of level of physicalactivity but that the mean level oftotal energy expenditure is in keep-ing with W.H.O. recommendations -these are the first such data forAustralian school-children. Measuresof physical activity as recorded bythe parents appear to correlate wellwith the activity monitor records,suggesting that parent-recordeddiaries might be a useful techniquefor population studies.

Urology

Cisapride in the control ofsymptoms in infants withgastroesophageal reflux: A randomised, double-blind,placebo-controlled trialRC Cohen, EV O'Loughlin, GPDavidson, DJ Moore, DMLawrence

To evaluate the efficacy of cis-apride in the treatment of uncom-plicated gastroesophageal reflux inchildren younger than 36 months ofage. A total of 95 patients satisfiedthe entry criteria and were random-ly assigned to double-blind treat-ment with either cisapride (n = 50),0.2 mg/kg 4 times daily, or placebo(n = 45) for 2 weeks. At the end ofthe 2 week treatment period, symp-tom diary and parental evaluationwith repeat 24 hour pH study wereperformed. Sixty eight patients

completed the trial (38 cisapridegroup and 30 in the placebo group).There were no significant differ-ences in the symptoms of crying,vomiting, or gagging; the overallsymptom intensity score; orparental global evaluations. Therewas a significant difference (P <0.3) in the percent time pH <4, thenumber of reflux episodes lastingmore than 5 minutes, and the dura-tion of the longest episode. No sig-nificant difference was demonstrat-ed for the number of episodes withpH <4 or the reflux score. Cisapridewas no better than placebo forrelief of symptoms in children withuncomplicated gastroesophagealreflux. A beneficial effect wasdemonstrated in the cisapridegroup in relation to the measuredparameters for esophageal acidexposure time.

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Heart and Blood

Vessels

Adolph Basser Cardiac

Institute

Evaluation of myocardial perfusion after cardiopulmonary bypass surgery and evaluation ofmyocardial protection usingechocontrastM Sheil, GF Sholler, GR Nunn, DCelermajer

This is an ongoing study to evalu-ate the adequacy of heart muscleblood flow in babies and childrenundergoing heart surgery. Thetechnique is novel and is providingguidance regarding the optimalmeans of protecting the heart dur-ing such major operations.

Management of Tetralogy ofFallot by non-invasive investigation followed by earlysurgeryM Walayat, GF Sholler, GR Nunn,R Chard

Tetralogy of Fallot (TOF) is a formof complex heart disease resultingin early death if not treated. Themain causes of death in TOF arerelated to additional structuralabnormalities in the heart. Thisproject aims to establish a non-invasive method of indentifyingthese lesions prior to surgery.

The medium term outcome ofpatients who have undergoneballoon dilation of the aorticvalve below the age of 6monthsH Latif, GF Sholler, S Cooper

An examination of the outcome ofballoon dilation of the aortic valvein newborn babies and very young

infants. These patients have a highrate of associated abnormalities ofthe left heart and therefore an high-er chance of death or poor outcome.The factors guiding prognosis arebeing reviewed.

Use of transoesophagealechocardiography to guideblade atrial septostomyM Walayat, GF Sholler, S Cooper

Some babies are born without thehole between the two sides of theheart. Such a hole may be the onlyway oxygen can enter the blood.Obstructed heart chambers canlower a baby's blood pressure. Thisproject studies the use of anadvanced imaging technique toreduce the risk of complex catheterprocedures to create the necessarycommunications in the hearts ofbabies with complex heart disease.

Anaesthesia

Ultrasound anatomy of theinternal jugular veinN Street, H Wark

It is the authors hypothesis thatthe position of the internal jugularvein is misrepresented by the gen-erally accepted surface landmarksin children. The authors are using aportable ultrasound machine tofind the IJV in relationship to thesurface landmarks. The imagesfrom the ultrasound are beingstored as a digital image. Theseimages are then reviewed and mea-suements taken to prove ourhypothesis. This anatomical infor-mation will allow us to better cor-relate the surface and true anatomyof the IJV in children, improving thesuccess rate and reducing the com-plication rate of this important butinvasive monitoring procedure.


Unit

Development of a rat model ofpulmonary hypertension withincreased pulmonary bloodflowDN Schell, O Miller, G Nunn, INicholson

The aim of this project is to devel-op and evaluate a rodent model ofpulmonary hypertension that dupli-cates the increased pulmonarybloodflow of some types of congen-ital heart disease. During 1988, atechnique resulting in longtermsurvival was achieved. Animalswere anaesthetised, endotracheallyintubated and ventilated. The leftpulmonary artery was ligated,thereby resulting in pulmonaryblood flow diversion to the rightlung. This procedure can be nowbe performed with minimal morbid-ity and longterm survival, therebymaking this animal model a viableoption for future research projects.

The role of oral L-arginine andinhaled nitric oxide in the prevention of hypoxia-inducedpulmonary hypertension in theratOI Miller, N Pigott, DN Schell, DCelermajer

Pulmonary hypertension can beelicited in the rat by chronic expo-sure to hypoxia. The aim of thisstudy is to evaluate the role of:orally administered exogenous L-arginine (the amino acid precursorof nitric oxide), and inhaled nitricoxide in the prevention of anatomi-cal changes of pulmonary hyperten-sion in the rat exposed to chronichypoxia. The presence of pul-monary hypertension will be deter-mined by morphological examina-tion of pulmonary blood vessels atpost mortem. It is hypothesised


that pre-treatment with either L-arginine or inhaled NO (iNO) willreduce hypoxia-induced pulmonaryhypertensive changes. If thehypothesis is correct, there ispotential for the use of dietary L-arginine supplementation ofpatients at risk of developing pul-monary hypertension. All animalexperiments were completed dur-ing 1998 and morphometric analy-sis of the lungs is presently under-way.

Immune System

and Infectious

Disease

The Institute Of Pathology

Incidence ofEnterohaemorrhagic E. Coliinfection in childrenW Leach, V Sintchenko

It has been determined that theincidence of enterohaemorrhagic E-Coli in children presenting to theCasualty Department with diar-rhoea is around 0.5%. the implica-tion of this in relation to hemolytic-uremic syndrome, haemorrhagiccolitis and bloody diarrhoea isbeing investigated and reported.

Emergency

The use of dexamethasone insuspected bacterial meningitisin paediatric emergency departments in AustralasiaG Browne, P McIntyre, L Gomes

This survey occurred in all depart-ments with a major paediatricthroughput throughout Australasiaand New Zealand. The surveyexamined current and past use ofdexamethasone by standard ques-tionnaire. Participants were re-sur-veyed following receipt of a recentmetanalysis for any changes inintended practice. There were nodifferences in the proportions oftertiary referral and general hospi-tal paediatric emergency depart-ments amongst users and non-users of dexamethasone. The initialquestionnaire suggested a fall-offin the current use of dexametha-sone with declining HIV disease.However, the demonstration of ben-efit in pneumococcal meningitishas changed attitudes towards its

future use in many departments.Many emergency departments havechanged the duration of therapyand are intending to develop proto-cols for the routine use of dexam-ethasone in suspected bacterialmeningitis.

Emergency and

Immunology and

Infectious Diseases

Management of children withcerebrospinal fluid pleocytosis -implications for steroid use

This study looked at children whohad a diagnosis of bacterial menin-gitis based on abnormal cere-brospinal fluid examinations in1996. The study looked at thecause, diagnostic criteria and out-come of children with meningitis.The study then proposed a protocolthat would be of benefit for use inthe emergency department for sus-pected cases of meningitis.

Immunology and

Infectious Diseases

A cohort study of cytokines andasthmaP Joshi, D Isaacs, A Kakakios, CMellis, P Van Asperen

T cells may have predominantly aTh1 or a Th2 cytokine profile, withimplications for the pathogenesisof atopic disease. This study exam-ines the effects of viral infectionson the development of Th1 and Th2cells in infants, and the relation-ship of these cell profiles to thedevelopment of asthma.

Challenging food allergyM Codarini, A Kakakios

This study involved investigation ofa subject with a unique and elusivefood allergy. The study involved

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dietary manipulation, food chal-lenges, and laboratory tests ofimmune function, and eventuallyidentified the causative allergen.

Childhood pneumococcal infection in AustraliaM Wong, P McIntyre, A Kakakios,M Hanlon, B Bennetts, MLeinonen, GL Gilbert, R Gilmour

This study investigates the inci-dence of invasive pneumococcaldisease in children, the nature ofthe invasive pneumococci, and theimmunological factors contributingto susceptibility to infection. Inaddition to collecting data on isola-tion rates and serotypes, severallaboratory assays of immune func-tion and the genetic contribution tofunctional immunity to pneumococ-ci are studied.

Effect of storage conditions onthe immunogenicity of whole-cell and acellular pertussis vaccines, in miceT Boros, MG Hanlon , M Gold, DIsaacs, P McIntyre, AM Kakakios

Storage of vaccines at tempera-tures lower than 4C may affecttheir potency. This study, in collab-oration with the Adelaide Women'sand Children's Hospital, examinesthe effects of different vaccine stor-age conditions on the developmentof specific antibody responses inimmunised mice, as a model for theeffects in infants.

ELISA serology for diagnosis ofpertussis infectionM Poynten, M Hanlon, GL Gilbert,AM Kakakios, P McIntyre, L Irwig

The clinical symptoms of adultspatients suspected of havingwhooping cough were investigatedby telephone interviews, and fourdifferent serological assays per-formed on samples from these sub-

jects. This study examines the rela-tive sensitivity and specificity ofthe various serological methods.

Host-Pathogen interaction inPapillon-Lefevre SyndromeMG Hanlon, ML Gacis, M Wong, RWidmer, AM Kakakios

Actinobacillus actinomycetemcomi-tans is normally a commensalorganism, but in the hereditary con-dition Papillon-Lefevre Syndrome(PLS), is related to juvenile peri-odontitis and defects of neutrophilfunction. This study examines thepathogen-specific host responses inPLS patients, with an objective ofdeveloping a tool to measure theeffectiveness of treatment.

Recovery of immune functionafter bone marrow transplantationA Kakakios, P Shaw, M Hanlon

This study assesses the ability ofpatient's immune systems to pro-duce immunoglobulins and specificantibodies after bone marrowtransplantation (BMT). The studyexamines the antibody response tovaccinations given before or afterthe BMT, during the post-BMTperiod.

Response to pneumococcal vaccination in splenectomisedlambsMG Hanlon, P McCullagh, K King

Splenectomised lambs are suspect-ed to have a reduced immune func-tion. This study, in collaborationwith the John Curtin University,examines the humoral immuneresponse of lambs to immunisationwith pneumococcal vaccine. Thismay provide a model for responseof splectomised humans.

Single-Antigen ELISA for detection of immune responseto Bordetella pertussisMG Hanlon, R Nambiar, AMKakakios, ML Gacis

Conventional whole-cell serologyfor Bordetella pertussis is thoughtto be less sensitive, and is of differ-ent specificity to serology whichmeasures antibody response toindividual purified pertussis anti-gens. This study investigates thedifferences in antibody response topertussis, using these techniques,with the aim of developing betterdiagnostic approaches.

The impact of antiretroviraltherapy on the immuneresponse to vaccine antigens inHIV-infected children who havebeen previously immunisedM Codarini, P McIntyre, AKakakios, J Ziegler, PPalasanthiran, C Hughes, M Goode

HIV infection compromises theability of T cells to assist in thedevelopment of antibody respons-es. This study examines theimmune responses to vaccinationof HIV-infected children who arebeing treated with antiretroviraltherapy.


National Centre for

Immunisation Research

and Surveillance of

Vaccine Preventable

Diseases (NCIRS) and The

New Children's Hospital's

Centre for Immunisation

Research

Clinical trial of a combined hepatitis A/B vaccine in adolescentsM Burgess, P McIntyre, G Smith,B Clifton-Smith, S Botham, AEgan, F Payne, F Turnbull

The aim of this study is to showthat a licensed combined hepatitisA/B vaccine can be used success-fully in a 2 dose (rather than a 3dose) schedule in adolescent volun-teers. The two dose scheduleswhich are being compared aredoses given at 6 month or 12 monthintervals. The 12 month intervalschedule if successful would provemore convenient and less costlywhen delivered in a school basedprogram than the shorter schedule.This a two centre study. 120 sub-jects have been recruited each inSydney and Melbourne. Resultswill be available early in the year2000.

Clinical trial of a combinedmeasles/mumps/rubella/varicella vaccine (MMRVZ) inyoung childrenM Burgess, P McIntyre, A Egan, SBotham, B Clifton-Smith, F Payne

This study aimed to assess theeffectiveness and reaction rate oftwo preparations of MMRVZ vac-cine compared with MMR vaccine.It has been carried out in three cen-tres in Australia. Each centrerecruited 80 children aged 12months. The children receivingMMRVZ had no significant increase

in the rates of reactions comparedwith those who received MMR vac-cine and there were very high ratesof protection (more than 93%) forall the vaccine components. Thesechildren are being followed up onan annual basis.

Clinical trial of a pentavalentvaccine (containing acellularpertussis/diphtheria/tetanus/Hib/hepatitis B) for routine immunisation of infantsP McIntyre, M Burgess, AKakakios, S Botham, AM Egan, BClifton-Smith, M Hanlon

Compliance with vaccination inAustralia is being affected by theincreasing complexity of the sched-ule as additional vaccines areadded, and by the fact that parentsand some doctors are reluctant toadminister several injections toinfants at a single visit. The vac-cine administered in this trial con-tained the new, less reactogenicacellular pertussis. Until now ithas been difficult to successfullycombine Hib meningitis vaccinewith acellular pertussis. The objec-tive of the trial was to test immuneresponse and side effects in agroup of infants who receive thepentavalent vaccine, comparedwith a group who receive two injec-tions, one containing only the Hibcomponent and the other the diph-theria, tetanus, acellular pertussisand hepatitis B. 180 infants wererecruited in the trial and have beenfollowed up at the age of 12months. The children respondedwell to all components of the vac-cine with a low incidence of sideeffects. However, the Hib respons-es were borderline in some sub-jects. Follow up is ongoing.

Clinical trial of vaccines containing acellularpertussis/diphtheria/tetanus inadultsT Heath, F Turnbull, B Jalaludin,M Burgess, M Hanlon, G Smith, BClifton-Smith, S Botham, A Egan

Whooping cough (pertussis) is cur-rently widespread in the Australianadult population and adults fre-quently are the source of infectionfor infants who are too young to bevaccinated. In 1997 there weremore than 10,000 notifications ofpertussis in Australia and 9 infantsdied in little more than 12 months.The currently available whole cellpertussis vaccine is not recom-mended for use in subjects over theage of 7 years. This study aimed toassess the side effects and immuneresponse of adults to vaccines con-taining an acellular pertussis (3components) preparation. Thestudy was single blinded and ran-domised. 550 healthy adults wererecruited. Many were health careworkers. The results showedextremely good responses to all theantigens in the vaccine and a lowincidence of side effects. Some ofthe subjects are being followed upon an annual basis.

Role of serology in the diagnosis of pertussisM Poynton, M Hanlon, L Gilbert,A Kakakios, P McIntyre

This study aimed to determine ifthere is agreement between theclinical case definition of pertussisand the serological findings. Studysubjects were sampled from peoplewho had sera submitted to theInstitute of Clinical Pathology andMedical Research, WestmeadHospital between February andMay 1998 for pertussis serology.Clinical case definition was used asthe gold standard. A total of 90subjects completed telephone inter-

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Name - Osner. Age 5.

“I want to drive a bulldozer when I grow up. I would

push the dirt into a big pile and then lift it into the

dump truck.”


31

views. The pertussis specificwhole cell IgA test (routine labora-tory diagnostic test) was found tobe 98% specific for the diagnosis ofpertussis but only 24% sensitive.It was concluded that cases noti-fied on the basis of a positive wholecell IgA test are highly likely to bepertussis.

Varicella (chicken pox) vaccinetrial in healthy adultsM Burgess, Y Cossart, D Wilkins,S Botham

Varicella vaccines have been avail-able in parts of Europe and in Japanand Korea for several years. Onevaccine was licensed in USA in1995 and is now included in theroutine infant immunisation sched-ule. The vaccines contain liveattenuated OKA strain varicellavirus. One dose of vaccine is suffi-cient for children but adolescents(aged 13 years and older) andadults require two doses separatedby an interval of one to two months.This study aimed to evaluate theside effects and seroconversionrates in a group of seronegativestudents and health care workers.100 seronegative subjects werevaccinated with 2 doses of vaccine.After the first dose 94% of subjectswere protected, and after the sec-ond dose 100% had developed anti-bodies. The rate of side effects wasvery low and only 2 vaccinees hadmild generalised symptoms. 81subjects were followed up one yearafter vaccination: one had experi-enced mild varicella, one had sub-clinical varicella and three hadbecome seronegative. Annual fol-low up is being carried out. Webelieve that vaccination is useful inthis group of adults.

Varicella vaccine in non-immune household contacts of children with canceror leukaemiaC Kappagoda, P Shaw, M Burgess,S Botham, D Cramer

Children with cancer or leukaemiaare at greater risk of complicationsthan healthy children who developvaricella. Vaccination of theirhousehold contacts may help pro-tect these high risk children frominfection. This study aimed toassess the response ofnon–immune children and adultsliving in the same household as achild with cancer or leukaemia.Families were recruited from theOncology Unit of RAHC. They werevaccinated with a preparation oflive varicella vaccine which is sta-ble when stored at 2-8 degrees cel-sius (refrigerator temperature).Thirty five seronegative subjects(28 children and 7 adults and ado-lescents) were vaccinated. All sub-jects became immune and therewas a low rate of side effects (rashin 2 and fever in 3). There was noevidence of transmission of thevirus to the patients. We found thevaccine safe and effective but fur-ther follow up is needed to docu-ment the duration of immunity. Apaper reporting these results is inpress.

Kidneys and

Bladder

Anaesthesia

Comparision of ropivacaine andbupivacaine with adrenaline forpostoperative caudal analgesiain children undergoinghypospadias repairC Jones, G Morris, MG Cooper, DMurrell, J Keneally

Caudal anaesthesia has been usedfor many years as the method ofchoice for intr and postoperativeanalgesia in hypospadios surgery.A new local anaesthetic agent,Ropivacaine has the reportedadvantages of a similar efficacybut reduced risk of morbidity withinadvertent intravascular injection.Only adult information is availableat present. This study will attemptto establish the efficacy ofRopivacaine in the paediatric surgi-cal group.

Centre for Kidney

Research

Systematic ReviewsIncreasingly, clinicians lookingafter sick children seek to basetheir care on good evidence. Inother words, they want to be confi-dent that the treatments they offerare likely to do more good thanharm. The best evidence on whichto base clinical decision making isthe randomised controlled trial, butwith over 60,000 trials published inpaediatrics alone, how is the indi-vidual clinician to synthesise allthat information and apply it toeach patient at the bedside or in theclinic? Systematic reviews useexplicit and reproducible methodsto summarise the findings of pri-mary clinical research concerningdiagnosis, prognosis and treat-ment. The use of a transparent,


32

structured process for making asystematic review helps to guardagainst the introduction of bias dueto the reviewers’ own preconcep-tions or beliefs. A good systematicreview provides a sound startingpoint for evidence-based clinicaldecision making.

Writing a systematic review is usu-ally a six step process:

1. Formulate the problem 2. Locate and select research

studies to be reviewed3. Evaluate the quality of the

studies4. Collect the data from the

studies5. Combine, analyse and

present results6. Interpret the results

Step five often requires meta-analy-sis, in which the results of two ormore studies are pooled using sta-tistical techniques to provide asummary result. The whole processinvolves a review panel whichincludes content experts and meth-ods experts, and usually takes overa year to complete. The Centre for Kidney Researchundertakes systematic reviewsconcerning common problems ofthe kidneys and urinary tract inchildhood. Our current reviews arelisted individually below. Reviewsin progress are registered with theCochrane Renal Group headquar-ters in Lyon, France. From thisregister we know that we are cur-rently undertaking more reviewsthan any other paediatric or adultkidney group. We publish our reviews in the med-ical literature, and we also submitthem to the Cochrane Collaborationdatabase, so that they are availableacross the Internet to clinicians allover the world.

A systematic review of the test per-formance of urine microscopy andurinalysis for the diagnosis of urinary tract infection in childrenG Williams, J Craig, L Irwig

A systematic review of the litera-ture to assess the sensitivity andspecificity of urine screening testsfor the diagnosis of urine infectionin children.

Antecedents of renal disease inAboriginal childrenJ Knight, R Williams, L Irwig

A survey of the incidence of silentrenal disease in Aboriginal childrenin urban, rural and remote commu-nities in NSW.

Antibiotics for the prevention ofUTI: a meta-analysisJ Craig, A Lee, G Williams

A systematic review of randomisedcontrolled trials examining theeffect of long term antibiotics toprevent recurrent urinary tractinfections in children.

Duration of antibiotics for acutepaediatric UTIJ Craig, V Moyer

A collaborative project withVirginia Moyer, Section of ClinicalEpidemiology, The University ofTexas, Houston.

How accurate is DMSA scintigraphy for the diagnosis ofacute pyelonephritis? A meta-analy-sisJ Craig, D Wheeler, L Irwig, RHowman-Giles

Critical appraisal of seven publishedstudies which sought to validateDMSA scintigraphy against the goldstandard, histopathology. Sensitivitywas 86% and specificity was 91%.

Steroids for children with nephroticsyndromeE Hodson, J Craig, J Knight, N Willis

Systematic review and meta-analy-sis of corticosteroid therapy inchildhood nephrotic syndrome.

Treatment of vesicoureteric refluxD Wheeler, D Vimalachandra, J Craig,P Roy, G Smith

A Cochrane Collaboration system-atic review and meta-analysis oftreatment options for vesi-coureteric reflux. Use of uretericreimplantation in addition to antibi-otic prophylaxis resulted in areduction in febrile urinary tractinfections, but did not result in anysignificant difference in the devel-opment of renal parenchymaldefects, when compared with pro-phylaxis alone.

Centre for Kidney

Research and Anaesthesia

The effects of NSAIDs on postoperative renal functionA Lee, M Cooper, J Craig, J Knight, JKeneally

A systematic review of publishedrandomised controlled trialsshowed that NSAIDs caused tran-sient reductions in renal function inadults during the early postopera-tive period.

Centre for Kidney

Research and APSU

Nephrotic syndrome surveyE Hodson, J Craig, N Willis, SPuckeridge

National prospective epidemiologi-cal surveillance for nephrotic syn-drome in childhood in collaborationwith the Australia and NewZealand Nephrotic Association.


33

Centre for Kidney

Research and

Endocrinology

A systematic review of growth hormone treatment in children withchronic renal failureD Vimalachandra, J Craig, CCowell, J Knight

A systematic review of randomisedcontrolled trials of growth hormonetreatment in children with chronicrenal failur

The Molecular Biology of T-cellRecognitionThe T-cell is the choreographer ofour immune responses. The recep-tors on its surface make crucialdecisions about a myriad of sur-rounding proteins - what is foreignand what is familiar. When a par-ent gives a kidney to their child, itis the child’s T-cells which recog-nise that the kidney is foreign andseek to reject it. And it’s T-cellrecognition which goes horriblywrong in autoimmune kidney dis-ease (nephritis), the commonestcause of kidney failure in Australiain both children and adults – a dis-ease in which the body’s ownimmune system attacks the kid-neys and destroys them.

If we could understand and controlthe precise dynamic architecture ofT-cell recognition and responses,we could prevent transplant rejec-tion without the need for immuno-suppressive drugs, and we couldprovide safe and effective treat-ments for nephritis – before thekidneys are attacked. These arethe long term goals of the Centrefor Kidney Research’s programmeof research into the molecularimmunology of T-cell repertoire.Our laboratory is equipped todefine the exact genetic sequenceswhich code for the receptors which

initiate T-cell recognition of selfand of non-self. We are designingtreatment strategies based onthose sequences which act at theinitiation of the immune response,and which can be targeted specifi-cally at those cells which are doingthe damage, without interferingwith the other immune responsecells which are so necessary to pro-tect us against infection andagainst cancer. We believe thatspecific and selective T-cell block-ade will prove to be the mostrational and effective means oftackling the twin problems oftransplant rejection and nephritis,which create so much work forrenal units, and so much sufferingand distress for our young patients.

Gamma-delta T-cell receptor repertoire in adriamycin-inducednephropathyT Ando, J Knight

A collaborative project with therenal research group at the SecondDepartment of Internal Medicine,Kyushu University, Fukuoka,Japan. Molecular characterisationof antigen receptors on lympho-cytes infiltrating the kidney in a ratmodel of glomerulonephritis.

Sequencing the rat TCR delta genelocusD Watson, T Ando, J Knight

Gamma delta T-cells are implicatedin renal interstitial inflammation.In order to study this in a rat modelit is first necessary to determinethe germline sequence of the rat V-delta locus, which is currently notknown.

T-cell receptor repertoire in amouse model of allograft rejectionG Zhang, H Wu, J Knight

Cloning and sequencing of cell sur-face molecules that determineself/non-self recognition in trans-plantation. An in vitro and in vivostudy of two closely related strainsof mouse whose tissue types arewell understood at the molecularlevel.

T-cell receptor repertoire in a ratmodel of toleranceG Zhang, J Knight, A Sharland, ABishop

This study was undertaken in col-laboration with the CentenaryInstitute of Cancer Medicine andCell Biology, University of Sydney.Molecular characterisation of anti-gen receptors on lymphocytes infil-trating the liver in a rat model ofliver transplantation.

T-cell receptor repertoire inHeymann nephritisH Wu, G Zhang, G Walters, JKnight

Molecular immunological mecha-nisms in a rat model of humanmembranous nephropathy. Cloningand sequencing of antigen recep-tors on T-cells in the kidney and inregional lymph nodes. This projectalso makes use of anti-sense thera-py for prevention of antigen recog-nition in this condition.

T-cell receptor repertoire in IgAnephropathyH Wu, G Zhang, A Clarkson, JKnight

A study of the molecular basis ofautoimmunity in a common form ofglomerulonephritis. In this projectwe clone and sequence antigenreceptors on the surface of T-cells


34

infiltrating the kidney in humanrenal biopsies.

T-cell receptor repertoire in nephrotoxic nephritisT Ando, P Tipping, J Knight

A collaborative project with theDepartment of Medicine at MonashMedical Centre, Melbourne.Molecular characterisation of anti-gen receptors on lymphocytes infil-trating the kidney in a mousemodel of glomerulonephritis

T-cell receptor repertoire of amouse model of GoodpastureDiseaseG Walters, H Wu, J Knight

A study of peptidic antigens andtheir interactions with the T-cellreceptor in a well characterisedmodel of renal autoimmunity.

A multicentre double-blindplacebo controlled trial ofchemoprophylaxis in childrenwith isolated vesicouretericrefluxJ Craig, D Vimalachandra, PSureshkumar, L Irwig, E Hodson, JKnight, P Roy

When abnormalities of the kidneysare seen in the foetus on routineantenatal ultrasound it is commonpractice for renal imaging studiesto be performed when the child isborn. If bladder reflux is identified,the child is often given prophylacticantibiotics, although the risk ofurine infection in this group hasnever been established. In thisprospective multicentre, ran-domised double blind, placebo con-trolled study children with asymp-tomatic reflux are randomised toreceive either antibiotics or place-bo, with the intention of determin-ing for the first time the risk ofurine infection in this group, andwhether giving antibioticsimproves the health outcome.

Lewis blood groups and urineinfectionA Flatter, J Sullivan, J Knight, JHarrington

This project was undertaken in col-laboration with the NSW Red CrossBlood Bank. It aims to determinewhether genetic heterogeneity inLewis blood group antigens influ-ences the risk of urine infection inchildren.

Long term antibiotics for prevention of UTI: a randomised placebo controlledtrialJ Knight, E Hodson, P Roy, LIrwig, J Simpson, G Smith, RHowman-Giles, A Lam, GWilliams, A Lee

A randomised double blind placebocontrolled trial to determine

whether chemoprophylaxis withlong term antibiotics given daily tochildren under 5 years of age pre-vent recurrent UTI.

Prevalence of daytime urinaryincontinence in primary schoolchildrenP Sureshkumar, P Roy, J Knight, JCraig

This survey aims to examine theprevalence of this distressing prob-lem in a large cohort of childrenstarting kindergarten in schoolsacross NSW.

Reliability of DMSA for the diagnosis of kidney damage inchildrenJ Craig, L Irwig, M Ford, N Willis,R Howman-Giles, R Uren, MRossleigh, S Grunewald

Four nuclear medicine physicians atthree different hospitals were askedto read a set of 100 DMSA scans andthe variability in their interpretationof the images was analysed. Thestudy showed a very high agreementlevel of 87% (kappa 74%).

The natural history of urineinfectionJ Craig, L Irwig, J Knight, P Roy

A cohort of 300 children under theage of five years with their firstsymptomatic urine infection hasbeen investigated and followedprospectively.

Cholesterol following renaltransplant in children: a sevenyear follow upD Wheeler, A Lee, R Pool, MKoirus, D Herbert, J Craig

A collaborative study with theHospital for Sick Children, Toronto,Canada. This study aimed to deter-mine cholesterol levels followingrenal transplant and explore any


35

relationship with graft function andtime to first rejection. At 5 yearspost transplant, 33% of children inthis cohort exceeded recommendedadult cholesterol limits and allexceeded paediatric limits. Therewere no identifiable predictors ofhypercholesterolemia and hyperc-holesterolemia did not significantlypredict the time to first rejection(P=0.65). The demonstration ofsuch prolonged hypercholes-terolemia means that well designedtrials of lipid lowering medicationare required.

Cyclosporin pharmacokineticsin children with stable renaltransplantsA Lee, E Hodson, C Nath, JKnight, N Willis, J Earl

Assessment of pharmocokineticstudies in children with stablerenal transplants to determine amore effective way of monitoringcyclosporin therapy. Cyclosporin isa drug used to prevent graft rejec-tion. The amount of cyclosporinabsorbed from an oral dose isextremely variable, causing diffi-culties in obtaining a stable dosingregimen. Pharmacokinetic analysisof cyclosporin in children beforeand after renal transplant hasdemonstrated that measurement oftrough levels in blood is unsatisfac-tory for monitoring dosage. A newmethod for monitoring cyclosporinis being developed.

Molecular mimicry in acute poststreptococcalglomerulonephritisI Ghadiminejad, D Watson, JKnight

Exploration of the molecular mech-anisms involved in postinfectiousglomerulonephritis in children.

Elucidation of a heparin bindingfactor that neutralises endotoxinI Ghadiminejad

Study of factors in the urine of chil-dren with steroid sensitive nephrot-ic syndrome

Nursing Academic Unit

Investigation into the incidenceof bladder spasm after surgeryfor ureteric reimplantation inchildren at the New Children'sHospitalL Lane, D Murrell, D Gillies, SNagy

Children undergoing simpleureteric reimplantation surgeryhave been observed to suffer blad-der spasms which are unrelieved byusual post-operative analgesia.This project aims to find what pro-portion of children undergoing suchsurgery at the New Children'sHospital experience bladder spasmpost-operatively. It also aims toinvestigate whether there is a rela-tionship between the number ofdays of post-operative catheterisa-tion and the incidence of bladderspasm in these children. Data col-lection is in progress.

Urology

Doppler flow - assistedlaparoscopic varicocele repair inadolescentsRC Cohen

The mean incidence of varicocele inthe adolescent age group is 16%.One third of all males evaluated forinfertility have a varicocele.However, following correction of avaricocele in adult life normal fer-tility is attained in only 20-50% ofcases. On this basis it has beensuggested that early correction of

varicocele may improve fertilitylater in life. During this 6 year peri-od May 1993-1999, 40 left sidedlaparoscopic varicocele repairshave been performed on boys with amean age of 12 years. All had stage3 varicoceles and either clinical orultrasonic evidence of ipsilateralreduction in testicular size (95%)or discomfort. During laparoscopythe testicular artery was identifiedand preserved in all patients usinga Doppler flow transducer ("SmartNeedle"). This technique has an85% success rate with 60% ofaffected testes exhibiting catch-upgrowth within 6 months followingthe varicocele repair. Thesepatients will continue to undergolong term follow up for assessmentof fertility.

Laparoscopic bladder ‘wrap’technique for repair of vesicoureteric reflux in aporcine modelR Cohen, D Moores, C Cooke-Yarborough, W Hermann

To determine if vesicouretericreflux (VUR) can be successfullycorrected laparoscopically by abladder `wrap' technique in a pigmodel. In 15 female piglets (meanweight 22.5kg) bilateral VUR wascreated by an open technique (11Grade 3, 2 each of Grades 2 and 4).Eight weeks later (range 4-16week) VUR was confirmed by fluo-roscopic cystogram and unilaterallaparoscopic correction was per-formed. The contralateral ureterbeing used as a control. The blad-der was emptied and a 3Fr uretericcatheter was inserted on the repairside. Four 11mm ports were insert-ed transperitoneally. The ureterwas dissected to the ureterovesicaljunction (UVJ). Commencing at theUVJ, 2 (n = 9) or 3 (n = 6) black silksutures were placed through thebladder muscle on either side of theureter creating a bladder `wrap'


36

around the distal 2-4cm of ureter.At a mean of 16 weeks (range 4-24weeks) cystograms were repeated.The animals were euthanized, thebladder and ureters underwenthistopathology examination. VURwas corrected in 12 animals (80%).There was persistence of VUR in 2and ureteric obstruction in one.The wrap was intact in all animals.Laparoscopic correction of VUR bythe bladder `wrap' technique is suc-cessful in pigs. Long-term followupstudies will determine if this will bea satisfactory alternative surgicaltreatment for correction of VUR inchildren.

Laparoscopy for undescendedimpalpable testesRC Cohen, G Smith

Undescended testes occur in about4% of full term infants and between5% and 15% of testes remainimpalpable. Conventional imagingtechniques are unreliable in locat-ing impalpable testes. There is sig-nificant increased risk of malignan-cy in undescended testes. It isimportant to both reliably locatethese testes and identify the absenttestis. Laparoscopy is the mostaccurate means of achieving thisand also allows correction of theproblem either by orchidopexy ororchidectomy. We are currentlyutilising this technique and a database has been created for the ongo-ing clinical studies.

Lungs and Control

of Breathing

Children's Chest Research

Centre

Airway structure in infants andchildrenK McKay

Studies have shown that airwaystructure is altered in adultpatients with lung diseases such asasthma, but it is not known if thesechanges are present in children.The major difficulty in assessingany changes in childhood is thelack of information on the normalstructure of airways in children.This project aims to obtain suchinformation from male and femalechildren between 0 and 18 years ofage. The information will then beused to assist in defining the caus-es of respiratory difficulty in chil-dren with lung disease. The air-ways of male and female infantsunder the age of 8 months havebeen studied and there are indica-tions that there are gender differ-ences in airway structure, and, thatnormal airway structure in infantsis significantly different from nor-mal airway structure in adults.Analysis of airways from older chil-dren is underway so that the age atwhich adult airway structureappears can be defined.

Associations between obesity,the Metabolic Syndrome(insulin resistance, hyperinsulinemia, hyperlipidaemia and abnormalities of glucose metabolism) and obstructivesleep apnoea in childrenR De La Eva, L Baur, K Donohue,C Seton, K Waters

This is a case controlled studydesigned to detect whetherobstructive sleep apnoea (OSA) inobese children is associated withan increased prevalence of theMetabolic Syndrome. For the pur-poses of this study, OSA is deemedto be present when there is anapnoea/hypopnoea index of equalto or greater than 5 events/hour,and obesity is defined according tothe body mass index (BMI). Thestudy will examine variables suchas fasting blood insulin, lipid, glu-cose and cortisol levels, urinarycatecholamine and cortisol levels,and blood pressure in children withand without OSA. Comparison ofthe mean values for the variablesfrom each group will allow a con-clusion to be made in regard to therelative prevalence of theMetabolic Syndrome in each group.A number of children have beenenrolled in this study, the results ofwhich will be available in January2000.

Exercise testing in children withcystic fibrosisH Selvadurai, P Van Asperen, PCooper, C Mellis, C Blimkie

Previous studies have demonstrat-ed that exercise training programsbenefit patients with CysticFibrosis. The choice between exer-cise programs is difficult and oftenbased on personal preference. Thehypothesis is that aerobic trainingwould be more beneficial thanresistance training. This study was


37

designed to compare the effects ofaerobic and resistance exercisetraining programs on lung function,aerobic capacity, strength and qual-ity of life in 66 children with cysticfibrosis who were admitted to thehospital for treatment of lung infec-tions. The children who were agedbetween 8 and 16 years and whohad varying degrees of pulmonaryimpairment due to Cystic Fibrosiswere randomised to receive super-vised aerobic or resistance train-ing, or to undergo no training pro-gram. Analysis of the resultsobtained at the completion of thetraining programs indicate thataerobic training significantlyenhances quality of life and aerobiccapacity, while improvement inlung function, weight gain andstrength is obtained with resist-ance training.

Patterns in medication use forbronchiolitis at New Children'sHospitalJ Hunjan, H Kilham

Bronchiolitis, is an acute lower res-piratory infection caused by virusesand resulting in wheeze and cough.Bronchiolitis accounts for most ofthe lower respiratory tract infec-tions in the first year of life. About1% of children are admitted to hos-pital, and this usually occurs inwinter. This study was designed toreview the medication adminis-tered to all children admitted toNew Children’s Hospital with bron-chiolitis during the winter of 1998.The results of the study suggestthat during this period, the usageof antibiotic therapy was as expect-ed but beta agonist bronchodilatoruse was much greater than expect-ed. In addition, there was a moder-ately high use of corticosteroidsand other bronchodilators (iprat-ropium bromide). The main find-ings of the study were the inappro-priately high use of beta agonists

and an unexpectedly high rate ofreadmission for viral bronchiolitis.

Pseudomonas Aeruginosainfection in the New Children'sHospital Cystic Fibrosis ClinicB Nguy, P Van Asperen, P Cooper,K McKay

Pseudomonas Aeruginosa (PA), anorganism which is ubiquitous in soiland water, is recognised as the mostimportant pathogen in the lungs ofpatients with Cystic Fibrosis. PAcan switch morphotypes from a non-mucoid form to a mucoid form; thelatter, is usually seen only in CysticFibrosis. This study was designedto elucidate the prevalence of lowerrespiratory tract infection with PA inchildren attending the CysticFibrosis Clinic. In addition, the ageat which infection was first detectedand the effect of infection with PAon lung function and growth (heightand weight) was examined. Theresults of sputum cultures from 264children which were performed inthe period June 1997 to November1998 were analysed. These recordsshowed that 15% of patients hadnon-mucoid PA, 34% had eithermucoid PA alone or in combinationwith non-mucoid PA, and theremaining 51% of patients were freeof PA infection. The age of patientsinfected with non-mucoid PA alonewas significantly younger thanthose with mucoid PA, and the FEV1and FVC (measures of lung func-tion) were significantly lower inthose patients infected with themucoid form of PA. The rate ofgrowth of the children was unaffect-ed by infection with either mucoid ornon-mucoid PA. This study hasshown that the prevalence of PAinfection increases with age, andthat infection with mucoid PA isassociated with lower lung functionbut has no association with the rateof growth of height or weight.

Pulmozyme Early InterventionTrial (PEIT)P Cooper, P Van Asperen, C Mellis,K Magoon, L Smith

This international, multicentre,randomised, placebo-controlled,double-blind study is investigatingthe long-term effects ofPulmozyme. Pulmozyme (or dor-nase alpha) is an enzyme whichbreaks down DNA in sputum ofpatients with chronic airway infec-tion and improves sputum clear-ance. The aim of this study is toexamine the effects of Pulmozymeon the pulmonary function of chil-dren with Cystic Fibrosis and 'nor-mal' lung function (FVC greaterthan 85% predicted) aged between6 and 10 years. Children seen inthe New Children's Hospital clinicwere entered into the study inDecember 1997 and will completethe study in late 1999. The resultsof the study incorporating the datafrom all centres based in Australiaand overseas will be available inlate 2000.

Repeated hypoxia during earlydevelopment of piglets: neuromodulator and neuropathological consequencesK Waters, J Earl, K Tinworth

In many cases, repeated apnoeaduring infancy is caused by a struc-tural abnormality of the face orupper airway. If left untreated,such repetitive apnoea are linkedwith blood gas disturbances, fail-ure-to-thrive, high blood pressureand developmental delay. Deathfrom sudden infant death syndrome(SIDS) is likely to be an extremeconsequence of repeated apnoea ininfancy, and evidence exists toshow that infants who died fromSIDS had experienced hypoxiabefore death. In this long-termstudy, piglets are used as an animal


38

model of cardio-respiratory devel-opment during infancy, to investi-gate of the consequences of repet-itive apnoea. The animals undergoepisodes that mimic repeatedapnoea, and are monitored to deter-mine whether this can cause abnor-mal control of breathing. In addi-tion, assessment of disturbed brainfunction, indicated by altered levelsof neurotransmitters or by structur-al abnormalities of brain cellsequivalent to those found at post-mortem in SIDS infants, is per-formed.

Study into the effects of generalanaesthesia on ventilatorycontrol and upper airway control in children with obstructive sleep apnoea (OSA)K Waters, P Stewart, R De LaEva, F McBrien, S Wharton, MHinder, D Baines

In this study, a group of 35 childrenundergoing tonsillectomy for thetreatment of OSA will have meas-urements of upper airway and res-piratory control made after induc-tion of anaesthesia and before sur-gery. Upper airway closing pres-sures are measured via face or nosemasks after anaesthesia is inducedby inhalation. Change in minuteventilation (breathing rate anddepth) in response to a rise in car-bon dioxide levels is also measuredwhile the child is anaesthetised.These measurements are repeatedafter the intravenous administra-tion of a standard dose of an opiateanalgesic (morphine-like painkiller).The same measurements are bemade in a group of children withoutOSA who are undergoing a compa-rable general anaesthetic for sur-gery that is not related to the upperairway. The results obtained ineach group are being analysed andcompared as the total cohort ofchildren have been recruited.

Children's Hospital

Institute of Sports

Medicine (CHISM)

Validation of the shuttle test inpaediatric cystic fibrosis andassessment of in-patient shortterm strength and cardiorespiratory fitness exercise programs on pulmonary function in childrenwith cystic fibrosisH Selvadurai, P Van Asperen, CMellis, P Cooper, C Blimkie

The purposes of this project aretwofold: first, to determine thevalidity of a simple shuttle run testin determining maximal functionlimited cardiorespiratory capacityin children with Cystic Fibrosis,and second, to evaluate the effec-tiveness of in-patient strength andcardiorespiratory conditioning pro-grams on pulmonary function dur-ing short term hospital care.Results from the first study willindicate whether the shuttle testcan be used as a cheap and validreplacement for the more expen-sive laboratory test of cardiorespi-ratory fitness in these patients, andthe second study will provideinsight about the effectiveness ofdifferent exercise programs tomaintain or enhance lung functionduring short course hospitalisation.

Bones, Joints,

Muscle and Skin

Orthopaedic Surgery

Bone marrow injections in thetreatment of simple bone cystsIR Barrett, P Gibbons

A prospective study using autoge-nous bone marrow aspirated fromthe iliac crest to treat simple bonecysts. Preliminary results suggestearlier healing with a reduced inci-dence of pathological fractures.

Chronic patella dislocationE Pickvance, MC Bellemore

Clinical review of the Stanisavljevicprocedure in patients with chronicdislocation of the patella. Thisreview found that chronic patellardislocations were due to: nail patel-la syndrome, Down's Syndromeandother congenital abnormalities.

Tibial callus distraction in skeletally immature rabbits: theeffect of Pamidronate in reducing osteoporosisDG Little, MS Cornell, C Cowell, RHowman-Giles, J Briody, SArbuckle, C Cooke-Yarborough

Osteoporosis is a major complica-tion in children undergoing limblengthening and reconstruction. Itcan prolong rehabilitation and leadto fractures. Pamidronate is beingused in an established animalmodel to determine the effective-ness of this drug in combatingosteoporosis before clinical trialscommence in these patients.


39

Orthopaedic Surgery and

Institute of PathologyPerthes disease and coagulationabnormalitiesP Gibbons, MC Bellemore, ALammi, B Webster

Perthes disease is due to avascularnecrosis of the capital epiphysis.The cause of the avascular necrosisis uncertain, however, there is evi-dence of an associated clottingabnormality. This study will deter-mine whether patients have a coag-ulation abnormality and whether itreflects the severity or progressionof the disease.




The skeletal adaptations toexercise in prepubertal athletesand normal childrenH Woodhead, CJR Blimkie, CCowell

This study is examining the effectsof intense exercise (elite swim-mers, tennis players) on the skele-ton in children age 7-11. Severaloutcome measures are examined;volumetric bone density, structuralproperties of the lower limbs areassessed using MRI for geometryat the midfemur and trabeculararchitecture at the distal tibia, andmechanical properties of the calca-neus using ultrasound densitome-try. Study recruitment commencedin 1998. The development of theMRI and ultrasound techniqueshave been completed this year. MRIhas been shown to be very preciseand reproducible for assessment ofgeometry at the midfemur.

Rehabilitation and

Neurosurgery

Management of spasticity inchildren with continuousintrathecal baclofen infusion - apilot studyA Scheinberg, S O'Flaherty, RChaseling

This research aims to evaluate theuse of a treatment to assist withthe management of spasticity(muscle stiffness) in children.Spasticity is seen in children withtraumatic brain injury, spinal injuryand cerebral palsy. The project willtest the hypothesis that ContinuousIntrathecal Baclofen Infusion (CIBI)improves functioning in childrenwith spasticity. It involves theimplantation of a programmablepump which delivers an anti-spas-ticity medication (Baclofen) via acatheter into the child’s spinalfluid. Although there is limited lit-erature available on the use of CIBIin children, this management hasbeen used effectively in adults withspasticity of cerebral and spinalorigin since 1985. IntrathecalBaclofen provides a chance for thechild to gain confidence with selfcare and mobility with consequenteffects on their sense of well beingand worth. The study will involve aprospective trial of two childrenwho are implanted with a pump.Outcomes will be measured withthe Modified Ashworth Scale,WeeFIM/FIM (Functional Indepen-dence Measure) and GMFM (GrossMotor Function Measure) scores.The expected duration will be sixmonths. The data obtained fromthis pilot study of 2 children will beused to judge whether either of thechildren experiences improvementsthat are of clinical significance. Ifsignificant improvements arefound, the methods used will war-rant a trial of a larger group ofpatients.



Health

Muscle fibre type, muscle fattyacid composition and familyhistory of insulin resistance inyoung childrenLA Baur, J O'Connor, LH Storlien

Resistance to insulin's action isrelated to a cluster of common dis-orders including non-insulin-dependent diabetes and obesity.Muscle is the major target ofinsulin's action on sugar metabo-lism and defects in muscle mayaccount for the development ofinsulin resistance. In this study,samples of muscle taken frombabies undergoing planned surgerywere analysed. Babies of motherswith high fasting levels of insulinand triglyceride (ie insulin resist-ant mothers) were found to have acharacteristic muscle membranelipid composition. This suggeststhat the predisposition to diabetesand related diseases is evident, atleast at a muscle cell level, even inthe first year of life.




Pamidromate therapy inosteogenesis imperfectaD Sillence, J Briody, J Ault, CCowell, R Howman-Giles

The present trial is a randomisedcross-over 2 year trial of CyclicIntravenous Pamidronate to treatthe osteoporosis of children andadolescents with the brittle bonedisorder , Osteogenesis Imperfecta.While the final outcome will not beknown until July 2000, the prelimi-nary results confirm our experiencein an earlier trial. Children in


40

wheelchairs can now walk and forthese very disabled children thebreakthrough has been like a mira-cle. The study incorporates sever-al sub-studies including a study todetermine the best monitoringtests for this new therapy.

Children's Hospital

Institute of Sports

Medicine

A comparison of skeletal muscle fat metabolism duringlong-duration exercise in pre-and post-pubertal girlsF Thomas, CJR Blimkie, HO’Connor, C Thompson, C Cowell,G Sholler, A Kemp

Fat metabolism during long-dura-tion exercise is believed to be medi-ated in part by estrogen status.Estrogen is believed to providefemales with a metabolic advan-tage over males in performance oflong duration exercise. This studywill compare the importance ofestrogen as a regulator of peripher-al and intra-myocellular fat metab-olism in pre-pubertal (low estrogenstatus) and post-pubertal girls(high estrogen) during bouts oflong-duration submaximal exer-cise. Information from this studymay provide insight about the roleof estrogen in the regulation of fatmetabolism, and the results may beuseful in prescribing exercise forweight management and fat lossduring the childhood years.

Development of a magnetic resonance imaging techniquefor in-vivo quantification ofcancellous bone architecture inchildrenC Blimkie, M Braun, C Cowell, HWoodhead, A Kemp

This project relates to the develop-ment of post-processing algo-rithms for the quantification of tra-becular structure at the distal tibia

in children using MR imaging.Once developed, we will be able toquantify changes in cancellousbone structure in response to exer-cise and nutritional interventions.

Exercise and skeletal adaptations in adolescents withdiabetes mellitusN Farpour-Lambert, C JR Blimkie,K Donaghue, C Cowell, G Sholler,R Howman-Giles, J Briody, AKemp

Subjects with Diabetes Mellitusmay be at high risk for osteopenia(reduced bone mass), andincreased risk for osteoporosis inlater life. Exercise or physicalactivity may have direct mechani-cal stimulatory effects, and bothexercise and diabetes may haveindirect and direct hormonal effectswhich could either positively ornegatively influence developmentof bone during growth. The purposeof this study is to investigate therelationship between varying levelsof exercise and skeletal adapta-tions in male and female adoles-cents, with Diabetes Mellitus. Thestudy includes 4 groups: diabeticelite athletes, non-diabetic eliteathletes, healthy control subjectsand an inactive group of diabeticcontrols. Groups will be matchedfor age, maturity status, sport andbody size. Results may provideimportant information about therole of exercise in the prevention oflow bone mass in adolescents withDiabetes Mellitus.

Factors influencing the development of the anaerobicenergy system in childrenL Ratnayake, D Garlick, CJRBlimkie

This project will use a mixed cross-sectional, longitudinal design toinvestigate the trainability of theanaerobic energy system in children

and adolescents. The results willprovide important information whichcan be used in the training prepara-tion of young athletes and in theselection of athletes for specificevents based on their physiologicalenergy requirements.

The effect of exercise type andmechanical load distribution onbone adaptations in elite adolescent female athletesCS Duncan, CJR Blimkie, A Kemp,J Briody, ST Burke, H Woodhead,C Cowell, R Howman-Giles

The purpose of this study is to inves-tigate the effects of different types ofexercise, and the importance of theanatomical distribution of mechani-cal loads on skeletal adaptations inadolescent female athletes. Thisstudy includes triathletes, swim-mers, cyclists and runners, and theresults may provide important infor-mation about the optimum type ofexercise to maximise skeletal adap-tation during development, for possi-ble prevention of osteoporosis inlater life.

The effect of intense exercisetraining on bone density andarchitecture in childrenH Woodhead, M Silink, CT Cowell,CJR Blimkie

This project examines both cross-sectionally and longitudinally, theeffect in prepubertal children, ofweight-bearing versus weight-sup-ported intense exercise on bone den-sity and structure in 3 athleticgroups (gymnasts, tennis playersand swimmers) and a group of con-trol subjects. Results will provideinsight into the most effective type ofexercise for optimal skeletal devel-opment during the early childhoodyears, and this information may beused in exercise guidelines for chil-dren for the purpose of preventingosteoporosis in later life.


The effects of mechanical loadmagnitude on skeletal adaptations to exercise inpre-pubertal girlsP Wiebe, C Blimkie, C Cowell, MBraun

The purpose of this study is deter-mine the effectiveness of moderateand high impact exercise on skele-tal development in pre-pubertalgirls. If one intensity of exercise ismore effective than the other, thenthis information can be used in pre-scribing exercise programs for thepossible prevention of osteoporosisin later life.

Dermatology

Artifactual skin disease in childrenM Rogers, M Fairley, RSanthanam

Emotionally disturbed children maydraw attention to their plight byproducing a variety of skin lesions,by thermal or chemical burns, abra-sions, skin painting and othermeans. These children requireimmediate and competent psycho-logical help. We are reviewing therange of presentations and ofunderlying disturbances and formu-lating a coherent approach to man-agement.

Pathogenesis of atopic dermatitisP Hogan, A Kakakios

Atopic dermatitis is a common con-dition, the pathogenesis of which ismultifactorial. A functional andgenetic study of TH-2 type cytokinereceptor mutations is being under-taken to assess their role in patho-genesis.

Spectrum of paediatric vulvaldiseaseG Fischer, M Rogers, T McGee, SYoung

This is a clinical audit of vulval dis-ease in prepubertal children pre-senting to dermatologist, gynaecol-ogist and general practitioner. Theaim is to define the clinical spec-trum and frequency of conditionsand compare referral patterns todifferent disciplines.

The clinical presentations ofcutaneous lymphatic malformationsM Rogers

The clinical presentations oflymphatic malformations are pro-tean and often mimic other condi-tions. A review of the range of clin-ical manifestations from a database of over 100 cases is beingundertaken.

Use of ultrasound in the diagnosis of pilomatrixomasM Rogers, A Lam, C Cooke-Yarborough

Pilomatrixomas are benign cuta-neous tumours which often calcify.A reaction to the contained calciumcan lead to severe scarring and,unlike the approach to manybenign tumours in children,removal is indicated. We confirmedthe usefulness of ultrasound insupporting the clinical diagnosis.

Cancer and

Leukaemia

Oncology

Studies and trials in childhoodleukaemia, brain tumours andsolid tumoursF Alvaro, D Barbaric, M Bergin, CCooke-Yarborough, L Dalla Pozza,SJ Kellie, L Lau, E McCahon, GBMcCowage, W Nightingale, LPearson, PJ Shaw, MM Stevens, NStuart

The Oncology Unit is a foundingmember of the Australian and NewZealand Children’s Cancer StudyGroup Incorporated (ANZ CCSG),and participates in trials of therapyconducted by ANZ CCSG. Thesetrials seek to improve long-termsurvival in patients receiving first-line therapy, to lengthen survival inpatients who have relapsed afterearlier therapy, and where possible,to lessen side-effects of therapy,particularly infection. Trials arecontinuing in various cancers ofchildhood, including acute lym-phoblastic leukaemia, acute non-lymphoblastic leukaemia, medul-loblastoma and other types of braintumours, neuroblastoma, Wilms’tumour, rhabdomyosarcoma, andhepatoblastoma. The OncologyUnit has received preliminaryapproval to become a member ofPediatric Oncology Group (POG), amajor cooperative childhood cancerresearch group in the UnitedStates. Membership will permitOncology Unit patients with rarercancers to be registered on trialsconducted by POG. The OncologyUnit is also fostering a cooperativerelationship with the Berlin-Frankfurt-Munster childhood leuk-aemia cooperative group inGermany. BFM are considered theworld’s leaders in the treatment of

41


childhood acute lymphoblasticleukaemia. The Oncology Unit iscurrently using the BFM-1995 pro-tocol for treatment of acute lym-phoblastic leukaemia. TheOncology Unit is also studying theepidemiology of childhood cancer,with special reference to the occur-rence of cancer in siblings, and infamilial cancer syndromes.

Bone marrow and stem celltransplantation studiesA Antonenas, M Bergin, KBradstock, L Dalla Pozza, SJKellie, S Kossard, B Kramer, GBMcCowage, B Meares, GBMcCowage, L Pearson, M Rogers,PJ Shaw, MM Stevens, N Stuart

Bone marrow transplantation(BMT) and stem cell transplanta-tion offer improved prospects forcure for children with previouslydrug-resistant forms of leukaemiaand other types of childhood cancerand other life-threatening disor-ders. The Oncology Unit has per-formed more than 200 BMTs. TheOncology Unit is accredited by theAustralian Bone Marrow DonorRegistry, and participates in trialsconducted by the InternationalBone Marrow Transplant Registry,as well as continuing our own stud-ies. Current trials and studies seekto provide more effective condition-ing regimens for BMT in severeaplastic leukaemia. Additionalstudies are investigating methodsof increasing yields of harvestedstem cells while reducing yields ofunwanted cells, methods of com-bining BMT with immunotherapyfor patients with advanced neurob-lastoma, and investigation of poorregrowth of scalp hair followingBMT.

Metabolism of drugs used totreat cancerD Barbaric, M Bergin, D Carr, JCoakley, L Dalla Pozza, J Earl, SJKellie, E McCahon, GB McCowage,K Montgomery, C Nath, PJ Shaw,MM Stevens

The Oncology Unit undertakesongoing studies to investigate themetabolism of drugs used to treatchildhood cancer and to conditionpatients for bone marrow trans-plantation, to identify more effec-tive methods of administration anddosage; these studies have alreadyinfluenced methods for administra-tion of melphalan in bone marrowtransplant conditioning regimes,and for administration of vin-cristine in the treatment of braintumours.

Studies in long-term survivorsof childhood cancerV Ahern, B C Cowell, Crawford, GCummins, L Delbridge, DHandelsman, A Lam, H Martin, KMatthews, K Mekertichian, JMerrick, K Steinbeck, HSomerville, J Sommerville, GStevens, MM Stevens.

The Oncology Unit has treatedmore than 2200 children and youngpeople for cancer since 1976, withmore than 1600 survivors. Overallthree-quarters of today’s youngpatients with leukaemia or cancercan expect to be cured of their dis-ease. Formal follow-up and evalua-tion of all long-term survivors hasbecome necessary, to ensure thatafter-effects of therapy are recog-nised and managed appropriately,to provide counselling, support andadvocacy for these young people,and to ensure that their quality oflife is optimal. Ongoing studiesinclude evaluation of fertility inmale long-term survivors of child-hood malignancy, evaluation ofreproductive capacity and

endocrine function in female sur-vivors of childhood cancer, thyroiddisorders in long-term survivors ofchildhood cancer, evaluation ofanaesthetic problems and risk inpatients requiring thyroidectomyfollowing irradiation given as partof treatment for childhood cancer,psychosocial aspects of long termsurvival after childhood malignan-cy, and quality of life in youngadults following survival of child-hood malignancy.

Oncology, Oncology

Research Unit and

Institute of Pathology

The establishment of a paediatric tumour bankL Coupland, L Dalla-Pozza, CCooke-Yarborough, S Arbuckle, BWebster, J Byrne

The study of cancer is often imped-ed by a lack of suitable tumourmaterial, and we have thereforeestablished Australia’s first paedi-atric tumour bank. The tumourbank consists of tumour and refer-ence tissue samples, and a comput-erised database describing thesesamples and the patients fromwhich they came (patients’ namesare of course omitted for confiden-tiality). The tumour bank can becontacted via the World Wide Web,and samples will be made availableto cancer researchers within thehospital and externally. Thetumour bank will also be used todevelop new diagnostic tests forthe hospital’s oncology patients.

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Oncology Research Unit

A transgenic mouse model ofD52 function in the mammaryglandC Nourse, J Joya, E Hardeman, JByrne

This project was undertaken in col-laboration with the Children’sMedical Research Institute. Inorder to understand how D52 pro-teins function at a tissue level, wehave made a transgenic mouse inwhich the human D52 protein isexpressed within the mouse mam-mary gland. Comparing glandsfrom transgenic and wild-type (nor-mal) mice will demonstrate theimportance of D52 protein functionin mammary gland developmentand function, as well as, whetheroverexpression of this protein caus-es cancer.

Determining the molecularfunctions of the novel D52 protein familyS Wilson, C Nourse, P Gunning, JByrne

Whilst studying active genes inbreast cancers, we have identified anew group of genes and proteins,the D52 family. Studies by othergroups have also shown that theseproteins may be present atincreased levels in other cancers.Our recent work indicates thatmany different proteins couldderive from each individual D52-like gene, suggesting diverse andpotentially complex functions forthese proteins. Using the yeast 2-hybrid system, we have also identi-fied proteins, including one deriv-ing from a novel gene, which inter-act with either all, or subsets of,the D52-like proteins tested. Asthese partner proteins’ functionsare likely to shed light on those ofD52-like proteins, we anticipate

that further studying these interac-tions will indicate how D52-likeprotein expression may cause orpromote cancer.

Regulation of cell structure during the cell cycleJ Percival, RP Weinberger, PGunning

It has long been known that cancercells undergo a profound change incell shape and display uncontrolledcell division. We suspect that thechanges in shape directly play arole in altered cell division andhave therefore initiated a project todefine the relationship betweeninternal cell structure and progres-sion through the cell cycle. Ourresults indicate that there is anextensive remodelling of the actincytoskeleton, the system mostresponsible for cell shape, prior totransit of the cell through the majorcell cycle check point, the R point.We have found that the differenttypes (isoforms) of actin andtropomyosin, the major buildingblocks of the actin cytoskeleton,are segregated into different com-partments early in the cell cycle.This has led to a new view of theinternal organisation of the cell inwhich different isoforms of themajor structural proteins can drivethe creation of intracellular com-partments. In one specific case wehave been able to provide directevidence that a specific componentof the actin cytoskeleton, thetropomyosin isoform Tm5NM1/2, isassociated with the Golgi appara-tus.

Oncology Research Unit,

Oncology and Westmead

Hospital

Expression of D52 proteins inhuman cancerR Balleine, L Dalla-Pozza, CClarke, J Byrne

In order to increase our knowledgeof how D52-like proteins areexpressed in cancer cells, we haveexamined the expression of D52protein in a series of human breastcancers. We found that D52 pro-tein was detectable in the cancercells of most breast tumours, andthat an increased D52 gene copynumber was reflected by anincreased amount of hD52 protein.This indicates that the D52 genecould be a critical target in thedevelopment of some breast can-cers. We have also obtained anti-bodies to other D52-like proteinsand are collecting bone marrowsamples from leukemia patients, inorder to perform similar analyses inleukemic cells.


and Children’s Medical

Research Institute

Function of actin andtropomyosin isoformsN Bryce, A Singh, V Ferguson, HQin, J Percival, C Dufour, PGunning, PL Jeffrey, E Hardeman,RP Weinberger

The discovery that different actinsand tropomyosins can be targetedto different sites within cells hassuggested that they have differentfunctional roles. To test this, wehave used gene transfection tochange the expression of these iso-forms in mouse myoblasts. Wehave found that both actin andtropomyosin isoforms impact on

43


cell shape, cell attachment andorganisation of internal structures.The results indicate that actin andtropomyosin isoforms are informa-tive for the regulation of a numberof fundamental cell processes. Thefinding that actin and tropomyosinisoforms are functionally distinctand mark different parts of a cell,suggests a potential role for themin diagnostic pathology. Changesin the location or presence of spe-cific isoforms should therefore bediagnostic for alterations in cellfunction.

Genetic manipulation oftropomyosin genes in miceJ Hook, G Schevzov, H Qin, VNikolarakis, RP Weinberger, JMeaney, PL Jeffrey, J Joya, EHardeman, P Gunning

Our understanding of the role oftropomyosins and actins in regula-tion of cell and tissue structure,and its role in cancer is only unam-biguously demonstrated by geneti-cally manipulating a whole organ-ism. We have taken threeapproaches using mice as the tar-get organism. First, we have madetransgenic mice which inappropri-ately express two differenttropomyosins in the brain and areexamining their impact on brainstructure. Second, we are develop-ing gene "Knock-out" technology tocreate mice which lack a functionalTm5NM gene. Finally, we arechanging the mouse beta-actingene to make it produce a gamma-actin protein. The resulting micewill be tested for changes in cellfunction and predisposition to can-cer. We are particularly interestedin changes in cell pathology andhow it relates to altered function.


and Gene Therapy

Research Unit

Protection of bone marrowstem cells from chemotherapytoxicity by gene transfer ofmethylguanine methyl- transferaseB Kramer, P Gunning, I Alexander,GB McCowage

Most of the side effects of cancerchemotherapy occur because thebone marrow is damaged by thechemotherapy drugs. In this proj-ect we aim to protect the bone mar-row using a gene therapy approach.We are developing techniques tointroduce into the bone marrowstem cells a gene named methyl-guanine methyl transferase. Themodified stem cells will then createa chemical which protects themfrom the chemotherapy drugs. Themodified stem cells would then begiven back to the patient as a bonemarrow transplant, and hopefullysubsequent chemotherapy wouldhave less toxicity since the bonemarrow would be protected fromthe damage which usually occurs.So far we have developed a specialnon-toxic virus, called a vector,which can carry the gene into thestem cells. We have developedtechniques for purifying stem cellsfrom bone marrow and strategiesfor introducing the virus to thestem cells. We aim now to developthese techniques further to thepoint of conducting a clinical trialin children with brain tumours.

.

Oncology Research Unit,

Oncology and Institute of

Pathology

Tropomyosins as markers ofbrain tumoursRP Weinberger, C Cooke-Yarborough, S Arbuckle, S Kellie,P Gunning

The ability of cells to divide isdependent on the establishment ofa contractile ring which allows thedaughter cells to separate fromeach other. We have observed thata specific tropomyosin is normallyfound in the contractile ring but notfound in non-dividing cells in thebrain after birth. This initially sug-gested to us that this tropomyosinmay be useful as a marker of divid-ing tumour cells in the brain. Ourresults have revealed that lowgrade brain tumours express thetropomyosin, but that high gradetumours primarily do not. Thissuggests that this protein may be auseful diagnostic indicator for braintumours.

Use of RT-PCR for detection ofneuroblastomaB Kramer, P Gunning, C Cooke-Yarborough, B Webster, GMcCowage

In this project we are developingand optimising RT-PCR to detecttyrosine hydroxylase, a chemicalwhich is produced by malignantneuroblastoma cells. The aim is touse RT-PCR to detect sub-micro-scopic amounts of tumour in bonemarrow and blood specimens inorder to guide therapy more pre-cisely.

44


The Institute Of Pathology

Pharmacokinetic StudiesA series of experiments is under-way to investigate the pharmacoki-netics of drugs used in treatment ofOncology and Renal patients. Themeasurement of drug levels is crit-ical to current and future patientcare.

Busulphan pharmacokineticsPJ Shaw, CE Nath, JW Earl, MVowels

We are continuing to collect furtherdata on the pharmacokinetics ofbusulphan in conjunction with theOncology Department. Dose esca-lation based upon pharmacokineticanalysis is also being tested in con-junction with the OncologyDepartment at the SydneyChildren's Hospital.

Carboplatin pharmacokineticsCE Nath, PJ Shaw, J Earl, B Mears

A method for measuring carbo-platin in plasma has been devel-oped and results have beenanalysed on a small number of chil-dren receiving the drug as part ofconditioning for bone-marrowtransplant. The effectiveness of asingle compartment model for car-boplatin pharmacokinetics is beingevaluated.

Mycophenolic acid pharmacokineticsCE Nath, JW Earl, P Shaw

Mycophenolic acid is used as intreatment of graft rejection for chil-dren receiving bone-marrow trans-plant. Methods are being devel-oped to measure mycophenolic acidin plasma, prior to commencingpharmacokinetic studies of thisdrug.

Pharmacokinetics of melphalanCE Nath, J Earl, P ShawA test dose of melphalan can beused to predict full dose pharma-cokinetcs although there is consid-erable variability. We are nowinvestigating the causes of inter-subject variability in order toimprove the predictability of ourmodel.

Topotecan pharmacokineticsS Kellie, L Dalla-Pozza, C Stewart,CE Nath, JW Earl

A method for measuring Topotecanhas now been developed as part ofa joint project with the OncologyDepartment. Pharmacokineticstudies of this drug, used to treatmedulloblastoma, will be conduct-ed in conjunction with St JudeChildren's Hospital, Memphis.



Frequency of TEL/AML1rearrangements in children withacute lymphoblastic leukaemia(ALL) with a normal karyotypeA Smith, L Robson, N Watson, PSharma, G McCowage

Further work with the use of fluo-rescence in situ hybridisation(FISH) in defining the split orfusion genes characteristict(12;21) has resulted in significantpick up of TEL/AML1 fusion notdetected cytogenetically (as the12p (chromosome 12 short arm)and the 21q (chromosome 21 longarm) are very similar in bandingpattern). Interesting new findingsin the literature have shownTEL?AML1 fusion in the peripheralblood of non-leukaemia blooddonors, and we have also detectedfusion in 2 adult patient referrals,who had been cleared of leukaemiawith standard paediatric treatment

regimes, suggesting late relapse.The full story on the significance ofTEL/AML1 gene fusion is still tocome.

Review of paediatric referralswith Acute LymphoblasticAnaemia (ALL) for Cytogenetics(1990-1995)A Smith, N Watson, P Sharma

Cytogenetic abnormalities are wellcharacterised in ALL and high riskgroups identified. We have under-taken a 5 year review of all refer-rals from 1990-1995, detailingage, sex, immunological markers,cytogenetics, and outcome. Thediagnostic patient cohorts consistof those with normal karyotypes,hyperdiploidy alone, structuralabnormalities alone and hyper-diploidy together with structuralabnormalities. Follow up to thepresent has shown differencesbetween the cohorts, whichrequires further evaluation.

45


Diabetes and

Metabolism




Comparison of Insulin Lisprowith Humulin R in children withIDDM on a twice daily insulinregimenJ Fairchild, C Lawton, G Ambler, NHoward, E Westman, A Chan

The safety and efficacy of InsulinLispro (Humalog) in children withIDDM on twice daily insulin isexamine in a randomised crossoverstudy. Glycaemic control (HbA1c,blood glucose profiles ), frequencyand severity of hypoglycaemia ,insuli dosages and dietary require-ments are compared. Patient pref-erence is assessed by question-naire.

Five year followup of nervefunction in adolescents withdiabetesKC Donaghue, J Fairchild, A Chan,J King, NJ Howard, M Silink

Diabetes-related nerve damage cancause serious problems in adultswhich can lead to the risk of sud-den death and foot disease. Wehave previously found that 28% ofadolescents have abnormalities ontesting of the autonomic (involun-tary) nervous system and 24% hadabnormalities on testing of theperipheral (sensory) nervous sys-tem. At 3 years of followup therewas no increase in abnormalities inthis cohort, so we plan to reassessthem five years later.

OZGROWM Wang M, C Cowell (on behalf ofthe Australasian PaediatricEndocrine Group)

Mei Wang is coordinating the finalheight project, a major undertakingof the OZGROW Database to obtainfinal heights of individuals whohave received at least one year ofGH therapy. Approximately 1000individuals may be eligible for thisstudy and we have identified over600 who have attained final height.A preliminary analysis has beenperformed on a small sample size,examining the final height com-pared to the parental height andinitial estimated mature height - itis evident that mean final height isnot significantly greater than theinitial estimated mature height andit will be interesting to see theresults once our database hasincreased following data inclusionfrom the larger databases inSydney and Melbourne.

Prepubertal glycaemic controland diabetes complicationsKC Donaghue, J Fairchild, MCrocker, A Chan, J King, SJ Hing,NJ Howard, M Silink

The large Diabetes Control andComplications Study (DCCT) inNorth America proved thatimproved glycaemic controlreduced the risk of diabetes compli-cations in adults and pubertal ado-lescents. This study is designed todetermine whether glycaemic con-trol is important for complicationsin prepubertal children. The child ismore at risk of the adverse effectsof hypoglycaemia due to improvedglycaemic control.

Prevalence of diabetescomplications six years afterdiagnosis in NSWKC Donaghue, J Fairchild, JCusumano, C Verge, A Chan, SJHing, NJ Howard, M Silink

This study assesses diabetesmicrovascular complications in apopulation-based incident cohort ofchildhood diabetes in NSW. Thiscohort was diagnosed in 1990-1992so the effect of duration will beminimised, so the potential effectof other factors such as blood pres-sure, age and pubertal staging andhealth care utilisation can be exam-ined.

Psychological and microvascular long-term complications of childhoodonset diabetesK Donaghue, L Cutler, K Nunn, MKohn, M Silink

This study is a reassessment of188 young adults (aged 18-26years) with IDDM who were fol-lowed from childhood and assessedfor diabetes microvascular compli-cations (eye and kidney disease)during adolescence at the DiabetesComplications Assessment Service.The study will examine whetherlonger prepubertal diabetes dura-tion causes more severe diabetesmicrovascular complications (retin-opathy and micralbuminuria) andwhether psychological morbidityand reduced quality of life are morecommon in those with less severemicrovascular complications. Thedual aims of normal psychosocialdevelopment and minimisation ofthe long-term microvascular com-plications of diabetes may be con-tradictory in real life. This studywill demonstrate the risks for bothoutcomes in young adults whowere diagnosed with diabetesbefore puberty. These results willallow planning for best overall out-comes for children with diabetes.

46


Critically Ill Child

Anaesthesia

Effectiveness of three differenttaping techniques for securingIV cannulaeF Found, D Baines

The fixation of intravenous cannu-lae is always difficult in childrendue to their uncooperative nature.The authors are investigating thepull out strength of three differenttaping techniques and several dif-ferent types of adhesive tape usedfor the fixation of intravenous can-nulae. They have used a PVC pipeas the test arm, with a blindedtester applying a standard force tothe test cannula. The pull-out forcebeing measured with a force gauge.

Postoperative haemorrhage following adenotonsillectomy: a 10 year reviewS Wharton

Surgical and anaesthesia tech-niques for adenotonsillectomy haveadvanced over the past 10 years.This survey has been undertaken toacertain the incidence of postoper-ative haemorrhage and to attemptto discover any contributing fac-tors.

Emergency

A comparison of different formsof therapy for children withacute severe asthmaG Browne, B Fasher, M McCaskill

This study is a comparison betweenthe use of intravenous salbutamolas a slow bolus infusion and fre-quent nebulised ipratropium bro-mide in children presenting to theEmergency Department with acutesevere asthma. The results of this

study will then be incorporated intoa clinical pathway for the manage-ment of acute severe asthma in theED.

A review of children presentingwith paracetamol ingestion toan emergency departmentK Currow, G Browne, M McCaskill,B Fasher

This study reviews the presenta-tion, assessment and outcome of100 consecutive cases of potentialparacetamol ingestion presentingto the emergency department. Aprotocol will be developed to stan-dardise the continued use ofpanadol in the ED.

Children presenting withasthma to the EmergencyDepartment: Criteria for safedischarge homeM McCaskill, G Browne, B Fasher

In this study the quality and clini-cal usefulness of the standard cri-teria used in the emergency depart-ment for the discharge of childrento home will be reviewed. The prac-tical aspects of developing this intoan appropriate protocol will then beevaluated. Then a protocol will bedeveloped to standardise dischargecriteria and this will be evaluatedby assessing outcome.

Emergency department management of children withsupraventricular tachycardia(SVT)D Holley, G Browne, M McCaskill,B Fasher

Clinical study looking at the initialevaluation, management and out-come of children presenting withsupraventricular tachycardia to theemergency department. This willhelp determine trends in the recentmanagement of SVT in the ED envi-ronment.

Emergency Department resuscitationAJ Cocks, G Browne, M McCaskill,B Fasher

Clinical study looking at consecu-tive children presenting to theemergency department over a 6month period requiring majorresuscitation. The study is evaluat-ing different levels of critical careadministered to these children,time of disposition from the ED, totheir final destination and ultimateoutcome.

Neonatology and Grace

Neonatal Nursery

A randomised controlled trial ofclamped and unclamped gastrictubes in ventilated neonatesonce feeds have been commencedK Psaila, D Campbell

The purpose of this study is toexamine the effect of two types offeeding practices on the incidenceof feed intolerance and sepsis inventilated neonates. This researchis being undertaken as a conse-quence of questioning currentnursing practice. Traditionally allneonates who have required venti-latory support have had gastrictubes inserted and left open to air.This study will establish whetherthe current practice is safe and effi-cacious

Automated sequential illnessseverity measures as a tool forassessment of NICU workloadR Halliday, K Spence

The reporting of NICU activity haslargely been restricted to bed occu-pancy as well as ventilator days.While this may be very useful inperinatal centres in which respira-tory disease represents a large

47


48

Name - Alexandra. Age 7.

“When I’m bigger, I want to make lots of cakes.

Chocolate is my favourite.”


49

component of the workload this isnot so for non-perinatal centres.The aim of our study was to add ill-ness severity scores for all patientswithin the unit on a given day toprovide a "unit" illness severityscore and to calculate this scoresequentially for a given time peri-od. Over the study period themedian bed occupancy was 4 forventilator beds and 17 in total. Themedian "unit" was illness severityscore was 38. Whilst there was lit-tle secular variation in total bedoccupancy and ventilator bed occu-pancy there was marked variationin the total "unit" illness severityscore. This method of measuringillness severity may be a more use-ful tool to assess NICU needs interms of unit staffing and resourceutilisation.

Implementation and evaluationof the Newborn IndividualisedDevelopmental Care andAssessment Program (NIDCAP)in Grace Neonatal Nursery(GNN)H Hardy, K Spence

There is increasing evidence thatthe NICU environment involvesinappropriate sensory experiencewhich stands in stark mismatch tothe environment expected by thedeveloping nervous system. NID-CAP is a developmentally support-ive system of care aimed at chang-ing the focus of medical and nurs-ing care to the patient and family.The present study aims to assessthe impact of NIDCAP on medicaloutcome measures, on the develop-mental and behavioural outcome atsix months post-term. Other aimsare to evaluate the influence on theexposure to NIDCAP on nurses’opinions about aspects of neonatalnursing, and to compare the cul-ture in the nursery prior to andafter implementation. Data fromthe pre-study cohort has been col-

lected, the response rate from thefollow-up questionnaires is 78%.The NIDCAP training of staff andthe implementation of theIndividualised Family FocusedPhilosophy into the nursery is on-going. It is anticipated the follow-up questionnaires for the post-study cohort will occur at the endof the year 2000.

Increasing the reliability ofweighing procedures for ventilated neonates in theNeonatal Intensive Care UnitJ Smith, K Spence

Infant weights are used for calcu-lating fluid requirements, drugdosages, assessment of cardiac andrenal function as well as nutrition-al status and growth patterns. Aninformal survey carried out in theunit revealed that there is a widerange in practices throughout NSWas regards weighing techniquesand that some of these techniquessuch a weighing an infant whileconnected to a ventilator may beinaccurate. This study is planningto test the hypothesis that it ismore accurate to disconnect theinfant from the ventilator whenweighing ventilated infants in theneonatal unit.

Investigations into the validityand reliability of the PainAssessment Tool in neonatesK Spence, J Schiefelbein, D Gillies,S Nagy

The Pain Assessment Tool (PAT)score is used to assess the pain lev-els of neonates in the NICU of theNew Children’s Hospital. Howeverthis tool has not been tested forinter-rater reliability and validity.During this project both inter-raterreliability and validity of the PATscore will be assessed in neonatesto the NICU. To test whether thePAT score is reliable and valid interm and preterm neonates and

those that have and have not hadsurgery the reliability and validityfor these groups of neonates willalso be calculated. Validity will betested using salivary cortisol, otherpain assessment tools and mother’srating of perception of pain in theirinfants.

Outcomes of newbornencephalopathy in the terminfantN Badawi, J Kurinczuk, J Keogh, MBaron-Hay, G Dixon, J Valentine, FStanley, P Burton, P Pemberton, SZubrick, S Silburn

Traditionally newborn encephal-opathy is assumed to have its ori-gins during labour and is oftendescribed as ‘birth asphyxia’.Most previous studies have beenpredicated on this view. In 1996,we completed recruitment of 276cases of term newbornencephalopathy and 564 randomlyselected controls. Analysis of thecase control data has elucidated aseries of independent preconcep-tional, antepartum and intrapartumfactors. These factors includedemployment status, health insur-ance status, a family history ofseizures or other neurological dis-ease, infertility treatment, mater-nal thyroid disease, severe pre-eclampsia, bleeding, a clinicallydiagnosed viral illness, not to havedrunk alcohol and to have a placen-ta described at delivery as abnor-mal. Intrauterine growth retarda-tion and postmaturity were alsorisk factors as were maternalpyrexia , a persistent occipito-pos-terior position, and an acute intra-partum event. More cases thancontrols were induced, 41.5% and30.5% respectively, and fewercases had Caesarean sections with-out labour, 3.7% and 14.5% respec-tively. Operative vaginal delivery (OR2.34) and emergency Caesarean sec-tion (OR 2.17) were both associated


50

with an increased risk. There wasan inverse relationship betweenelective Caesarean section (OR0.17) and newborn encephalopa-thy. Only 29% of the case infants inthe study had evidence of intra-partum hypoxia and only 8 (5%) ofthese infants had intrapartumhypoxia without evidence of otherrisk factors. We concluded thatthe causes of newbornencephalopathy are heterogeneousand many relate to the periodbefore labour and delivery.Longitudinal follow-up of the casesand controls reached the five yearfollow-up stage during 1998. Todate 8.3% of the cases and none ofthe controls have been notified tothe WA Cerebral palsy register ashaving cerebral palsy. This propor-tion is likely to increase as the pop-ulation of children ages and arediagnosed and notified to the regis-ter. To date 13% of the cases andone control child have died. AGriffith’s mental developmentscales was performed on 83% ofthe eligible cases born in the met-ropolitan area and 80% of the con-trol infants. The mean generalquotient (GQ score) for the caseswas 102 compared to 113 in thecontrols (P<0.0001). Of the casesassessed, 21% were more than twostandard deviations below the gen-eral population mean derived fromthe control data, compared to only2.3% of the controls. A full neuro-logical assessment is carried outwhen the children are three yearsold and an assessment of verbaland non-verbal intelligence, verbalreasoning, temperament, behav-ioural and mental health problemsis carried out at age five years.The latter two series of assess-ments are still under way.

Proneness to moral affect andbereavement outcome following perinatal deathP Barr

It is only recently that the intensityand duration of grief following thedeath of a baby in the perinatalperiod has been widely appreciat-ed. The purpose of the presentstudy is to attempt to understandthe nature of perinatal grief andascertain whether proneness tomoral emotion is an importantdeterminant of outcome followingperinatal bereavement. The studymay help identify those parents atrisk of pathological grief for whomadditional counselling and supportservices might be helpful and mayalso increase the therapeutic suc-cess of counselling. Mother andfathers experiencing a stillbirth(>20 weeks gestation) or neonataldeath (<28 days) are approachedand invited to participate in thismulticentre study which examinesthe proneness to moral emotionsand the outcome for perinatalbereavement.

The scope of practice of neonatal clinical nurse consultantsK Spence, S Brazil, S Bredemeyer,J Nash, J Dawson, K Lindrea, MMorritt, D Andrews, S Petty

This study evaluates the activity ofthe role in relation to the standardsfor advanced practice, competen-cies for clinical nurse consultants(CNC) and the focus report of theNSW Nurses Association. Theresults have yielded a profile of theneonatal CNC in NSW.Consultation and clinical practicewas the major focus of the roleoccupying 24% of activities, activi-ties involving education includedoutreach, preparation and evalua-tion of programs (26%). Researchactivities varied widely among the

eight CNCs with a range from <2%to 13%. The tool used during theproject facilitated the objectivemeasurement of each of the CNCactivities over a 12 month periodthe tool measured quantity of serv-ice provided, the next step is tomeasure the quality of the servicedelivered. Several implications forthe practice of CNCs have beenidentified as a result of this study.


A comparison of the analgesiccoverage provided for burnedchildren with that provided foradultsS Nagy, J Crisp, D Gillies, CMacfarlane, B Cavalletto

Previous research has shown thatthe analgesic coverage provided forchildren is less than that providedfor adults with similar conditions.In recent times a number of initia-tives have been set in place toimprove the analgesic managementof children’s pain. This comparativestudy aims to investigate theextent of such improvements byauditing records of patients withburn injuries, fractures of the fore-arm or leg, or admitted for appen-dectomy or tonsillectomy in majorpaediatric and adult hospitals inSydney. The intentions of the studyare to describe the types anddosages of analgesia used in thetreatment of pain and to comparethe level of coverage provided foradults and children. All data havebeen collected and data analysishas commenced.


51

An international study of nurses' approaches to childrenin painJ Ritchie, S Nagy

Despite great advances in knowl-edge about children’s experience ofpain and despite considerableefforts to change nurses’ practice,children continue to have their paininadequately managed. In order todevelop more complex strategies tochange practice a deeper under-standing is needed of how nursesapproach caring for children withpain and what values, beliefs, andattitudes underlie that care. Thisstudy aims to explore in depth theissues of nurses’ practice and toexplore differences in nursing careof children with pain across nurs-ing settings in Canada, the USA,Australia, Switzerland and theNetherlands. The study willattempt to elicit nurses’ views ofthe factors that make a differenceto their approaches. It is anticipat-ed that international comparisonsmay reveal some of the core rea-sons that care is so difficult tochange. All interviews have beencompleted and data analysis is inprogress.

Professional issues for nursescaring for long-term hospitalised children in an acutecare paediatric settingL Brodie, M English, D Gillies, SNagy

Caring for children hospitalised forlong periods in acute care settingshas generated many difficulties fornursing staff. This project aims toidentify the range of such prob-lems and to identify strategies thatmay be used to prevent them ordeal with them effectively as theyarise. Data collection has beencompleted and analysis is inprogress.

The emotional states and coping strategies of nurses conducting painful procedureson childrenS Nagy, J Crisp, L Viney, CMcQuellin, J Ritchie

The aims of this project are to (a)identify the coping strategies usedby nurses when conducting painfulprocedures on children (b) identifythe types of emotions associatedwith each coping and (c) develophypotheses about strategies arelikely to be associated with posi-tive outcomes for nurses and forthe children for whom they care.

Oncology

End-of-life care of childrendying of cancerS Armstrong, J Collins, P Jones, HKilham, E O’Riordan, MM Stevens

The Oncology Unit has a strongcommitment to providing effectivepalliative care for those patientsand families for whom cure is nolonger an option. A close collabo-ration is being undertaken with theVincent Fairfax Pain Unit. A jointstudy by these two groups wasundertaken to allow more accuratemeasurement of the severity ofsymptoms such as pain and nauseain young children, providing datathat has not previously been avail-able anywhere. A study is beingundertaken to assess the percep-tions of family practitioners of pal-liative care provided to childrendying at home from progressivemalignant disease. Through ourmembership of the InternationalWork Group on Death, Dying, andBereavement, we continue to par-ticipate in international studiesseeking to better understand therole of parent, child, and physicianin end-of-life decisions. BearCottage is a children’s hospice now

under construction at Manly by TheNew Children’s Hospital, to providerespite care and palliative care forchildren with incurable and life-lim-iting illnesses, and support fortheir families. Bear Cottage isscheduled to open in May 2000.The services to be offered by BearCottage have until now beenunavailable in New South Wales. Astudy to evaluate the outcomes ofintroduction of these services isongoing.


Unit

Establishment of risk of clinicaldeterioration criteria in hospitalised childrenA Morrison, J Gillis, A O’Connell,R Choong, J Cocks, G Browne, KHillman

The concept of preventing cardiacarrest in patients by providing carevia an acute care team or MedicalEmergency Team has been estab-lished in the South Western SydneyArea Health Service. The criteriafor which a medical emergencyteam is called are well defined forthe adult population, however, pae-diatric criteria are unavailable.This study will review, prospective-ly, the records of all children whoare inpatients at the NewChildren’s Hospital, and have hadan arrest call. The purpose of thereview is to determine if earlierintervention may have preventedthe arrest and to determine whichcriteria are most significant.Interim analysis of the results sug-gests that criteria used in the adultpopulation is inappropriate for pae-diatrics. Further work is underwayto determine more specific paedi-atric criteria.


52

Evaluation of hanging legweight, mid upper arm circumference and leg length asmethods to accurately estimatepatient weight for children inPICUA Morrison, D Edwards, D Schell

Accurate weights are essential formanagement of fluids, ventilationand drugs for children in paediatricintensive care. Ideally an accurateweight should be obtained onadmission or within 24 hours ofadmission. However, a weight maybe difficult to obtain due to severityof illness and consequent instabili-ty. Estimation of weight based onage or visual cues are usually inac-curate. Hanging leg weight, midupper arm circumference and leglength have been evaluated asalternative methods of assessing achild’s weight. Results: The studyis ongoing. Interim analysis of thefirst 177 patients enrolled is avail-able. The measured weight ofthese patients was between 4 and70 kg. Linear regression analysissuggests a strong predictive rela-tionship between hanging legweight, mid upper arm circumfer-ence and leg length. The regres-sion model suggests that leg lengthdoes not add significantly to thepredictive model. These resultssuggest that improved accuracy ofweight estimation is possible, andthis will enhance patient care.

Evaluation of true core temperature in the PICU environmentL Justin, F Maxton

Accurate monitoring of core bodytemperature is an important com-ponent of the routine care of criti-cally ill patients, serving as an indi-cator of illness severity. It hasbecome evident that while tempera-ture is the most basic of observa-tions, there are conflicting ideas

regarding the most accurate site tomeasure core temperature. Bloodtemperature in the pulmonaryartery is considered to be the mostaccurate, however this method ishighly invasive. Therefore anotherreliable, less invasive site needs tobe identified. The goal of this studyis to evaluate which site – rectal,axilla, tympanic, bladder andnasopharyngeal – is the best indi-cator of true core temperature., Inthis study, the above sites will becompared with the pulmonaryartery temperature ("gold stan-dard") in paediatric post-operativecardiac surgical patients. Noresults are available at the time ofpublication.

Inhaled nitric oxide after cardiacsurgeryOI Miller, SF Tang, DS Celermajer,N Pigott, A Keech

In children with congenital heartdisease, pulmonary hypertension isa significant cause of morbidity andmortality in the post operative peri-od. This study is an ongoingprospective, randomised, blindedtrial of inhaled nitric oxide in postoperative infants at risk of pul-monary hypertension. The aimsare to evaluate the number of pul-monary hypertensive crises, time toextubation, mortality and complica-tions of this potentially excitingtherapy. Patient enrolment con-cluded at the end of 1998.Preliminary data from the first 100randomised patients (1994-1997)is now available. 50 patients ofeach sex were studied, and theaverage age of subjects was 3months. 32 patients had Downsyndrome. 64 subjects had at leastone pulmonary hypertensive crisis,the average number of episodes forthe whole cohort was 2 andpatients with Down syndrome hadmore episodes than non Downpatients (5 v 1). There were 7

deaths, and 6 of these were associ-ated with pulmonary hypertension.Data is still undergoing analysiswith regard to efficacy of inhalednitric oxide at preventing or dimin-ishing these episodes.


Unit and Nursing

Academic Unit

The validation of an iatrogenicdrug withdrawal assessmenttoolC Marshall, V Gilmore, S Nagy, BCavalleto, L Lane

Children requiring intensive careoften need narcotic analgesia inconjunction with sedation usingbenzodiazepines or other drugs tofacilitate patient care and comfort.If their usage is prolonged, symp-toms of drug withdrawal mayoccur. Drug withdrawal may be dif-ficult to recognise in the criticallyill patient because symptoms arenon specific and often similar tothose of other common critical ill-nesses. This study is designed tovalidate a tool constructed by DrLinda Franck for paediatricpatients and used at the OaklandChildren’s Hospital. If validated,the tool will assist clinical diagno-sis of withdrawal and be availablefor further research. Patients wereenrolled into 2 groups: those at riskof withdrawal (prolonged adminis-tration of narcotics/benzodi-azepines) and those not at risk ofwithdrawal. A total of 60 patientswere enrolled, approximately halfin each group. Preliminary analy-sis shows good interrater reliabil-ity, however the tool is a poor dis-criminator of withdrawal, andtherefore may not be clinically use-ful.


Physiotherapy

The effectiveness of salineinstillation when used as anadjunct to physiotherapy in theintubated childJ Webber, J Follett

The aim of this study is to evaluatethe effectiveness of instilling asaline bolus as an adjunct to treat-ment during respiratory physio-therapy in an intubated child. Thewet and dry weight of secretionsobtained with endo-tracheal tubesuction will be compared betweentreatments when saline is eitherused or omitted. From this data wewill be able to determine if instill-ing saline down the airway duringphysiotherapy results in more spu-tum being removed from the child'slungs than when it is omitted -hence increasing the effectivenessof physiotherapy treatment.

Development and

Behaviour

Children’s Hospital

Education Research

Institute (CHERI)

A three-state multi-attributeevaluation of special educationoutcomesM Dowrick

In its third and final year, thisstudy set out to develop and admin-ister an evaluation process whichspecial educators can apply withintheir school settings. It has beenbased upon the principles of theMulti-Attribute Utility AnalysisApproach (MAUA) used in theUnited States and was adapted foruse in Australia. The processinvolves identifying desirable out-comes for students with intellectu-al impairments and then undertak-ing assessment procedures todetermine these outcomes arebeing achieved. The adaptedprocess was implemented in aschool in Sydney and in Canberra.The participants were studentswith mild, moderate or severe intel-lectual impairments. In identifyingthe desirable outcomes, stakehold-ers such as educators, studentsand parents meet to gain agree-ment on the targeted outcomes andpotential measures. Outcomes tar-geted included - Independent LivingSkills, Financial Management andCommunications. Data was col-lected using parent and teachersurveys, interviews, checklists,student self-rating scales, curricu-lum based assessments, tests,enactments and observations.Results indicated that most stu-dents performed at a satisfactorylevel on all measures of the out-comes except sexual awareness.

Each school was provided with adetailed report that included datacollected and recommendations. Aprocess manual is now beingdevised by Ms Dowrick to be usedby schools seeking to investigatethe abilities of their students inpossible curricula areas.

Chronic illness research seriesLL Kok, J Bailey

This project aimed to investigatethe impact of chronic illness on theacademic achievement of studentsin mainstream schools. The effectof chronic illness on cognition andlearning was investigated from annumber of different perspectives.Cognitive, educational and psy-chosocial functioning of studentswith chronic illness was also exam-ined. The first stage of this projectidentified the prevalence and typesof paediatric chronic illness in stu-dents in mainstream educationthrough an audit of primary schoolsin the northern region of Sydney.Responses from schools in thisregion, indicated that 1.6% of chil-dren under twelve years of agehave a chronic condition. The nextstage of this project will investi-gate difficulties experienced bythese students coping with the aca-demic demands of school and theirillness, affecting their academicperformance. A model for collabo-rative teamwork will be developedand the special needs of childrenwith chronic illness will be bettermet and understood.

Clinical management andexpertise in the diagnosis ofADHDL Gomes

ADHD is an important researcharea, since diagnosis and manage-ment remain controversial issuesfor all health professionals con-cerned. While previous studies

53


have documented aspects of clini-cal practice there is no literature on'best practice' in managing this dis-order. This project is being super-vised by Dr David Dossetor,Department of PsychologicalMedicine, New Children's Hospitaland Professor Jeff Bailey. Thisstudy aims to profile the degree ofexpertise in management of ADHDin Australia and has progressed intwo phases. Phase 1 has involveda survey questionnaire of a satura-tion sample of paediatricians andchild psychiatrists in Australia,seeking information on clinicians'experience, general knowledge,diagnostic accuracy and manage-ment practices with regard toADHD. Information from thisstudy will be used to construct aprofile of expertise. Phase 2involves a survey questionnaire ofparents of children treated by therespondents from the Phase 1study with respect to clinical out-comes and satisfaction. This willprovide further valuable insightsinto clinical expertise. Data fromphase 1 have been collected thisyear and will be analysed shortly.Phase 2 is expected to commencein January 1999.

Parents' and teachers' perceptions of educational services for students withchronic illnessS Shui

This project investigates the con-cerns of parents and educatorswith regards to the provision ofeducational services for studentswith chronic illness. A survey wasdistributed to 500 NSWDepartment of Education andTraining Schools. Teachers wereasked to complete the survey andalso forward a copy of the survey toparents of a child with chronic ill-ness. A total of 121 parents and112 teachers completed the survey.

An additional 61 schools indicateda nil response (ie. no children intheir school with a chronic illness).Parents and teachers were asked toindicate the child’s chronic illness.Over 60 different illnesses wereidentified, such as cystic fibrosis,leukaemia, diabetes, epilepsy, asth-ma, muscular dystrophy and cancer.Parents indicated concern for theirchild’s academic performance, theaccompanying workload on a med-ically fragile child and their child’semotional well being and healthwhile at school. Parents were alsoasked to identify what they thoughttheir child’s concerns about educa-tion were. Almost half of the par-ents indicated that their child wasconcerned about coping with theschool workload and falling behindacademically while almost a fifth ofparents thought their child wasworried about social aspects ofschool – such as maintaining andresuming friendships, isolation,teasing and bullying at school.Teachers indicated concern for thelack of information available tothem about the student’s illness andfeelings of inadequacy in dealingwith a medical emergency.Teachers were also worried aboutstudent absenteeism associatedwith illness and the impact of thison their educational performance.Information gathered from the proj-ect has raised awareness of the dif-ferent concerns and perspective ofparents and teachers of studentswith chronic illness. It also stress-es the importance of an effectiveinterface between health profes-sionals, educators and parents formore cohesive management of stu-dent illness. Information obtainedfrom this study will form the basisfor the development of strategiesthat will improve the provision ofeducational services for studentswith chronic illness in NSWDepartment of Education andTraining schools.

Performance on the Test ofVariables of Attention (TOVA) inchildren with Attention DeficitHyperactivity Disorder and comparison with Conners’ rating scalesC Soo

This project commenced in Augustthis year and is aimed at investi-gating the validity of usingContinuous Performance Tasks(CPTs) in the diagnosis of ADHD.CPTs are computer-based tasksthat have been used to examinesustained attention deficits in chil-dren with ADHD. The performanceof children with ADHD on the com-puterised Test of Variables ofAttention (TOVA) in relation totheir DSM-IV subtype diagnosiswill be examined. Performance onthe TOVA will also be compared toother sources of information cur-rently used in the diagnosis ofADHD such as teacher and parentratings of the child’s behaviour.The design of the project and thenecessary measures were devel-oped this year. Recruitment of chil-dren with ADHD will commence in1999.

CHERI and Neurogenetics

Research Unit

Social-cognitive profile of children withNeurofibromatosis Type 1 (NF1)B Barton

Neurofibromatosis Type 1 (NF1) isthe most common autosomal domi-nant genetic disorder that affectsthe human nervous system.Despite the high prevalence of thisdisorder and the significant impacton academic performance, physicalappearance and wellbeing, there isvery little literature on the psy-chosocial development of childrenwith NF1. This project commenced

54


in August this year and aims to pro-vide a comprehensive social andcognitive profile of children withNF1. Specifically it will examineself-concept, levels of anxiety andattention, social skills and intelli-gence of children with NF1. Theinformation gained from this proj-ect will assist in the developmentof effective interventions for fami-lies and clinicians. The design ofthe project and the necessarymeasures were developed this year.Recruitment of children with NF1will commence in 1999.


Unit and CHERI

The NF1 cognitive phenotype:natural history and pathogenesisS Hyman, B Barton, J Bailey, KNorth

Learning disability is the mostcommon complication ofNeurofibromatosis 1 in childhood.We have previously studied 50 chil-dren with NF1 and identified a radi-ological marker on MRI associatedwith the presence of cognitivedeficits. The current study willextend our original study andexamine the natural history of cog-nitive deficits and MRI abnormali-ties the original cohort of patientswith NF1, as well as further evalu-ate the relationship between thethem. In addition, we will deter-mine the effect of NF1 on the psy-chosocial wellbeing of the individ-ual.


Parents’ experiences of hospitalcare for their children withdevelopmental disabilities: Apilot studyP Kearney, H Wright, A Firkins, CMacfarlane, S Nagy

This project arises out of previousresearch that suggested that par-ents of children with developmen-tal disability face many difficultieswhen their child is admitted toacute care hospitals. This is aninterview study aimed at exploringsuch experiences in order to devel-op strategies for improving theexperiences of developmentallydisabled children and their parentswhile cared for in acute care hospi-tals.

Occupational Therapy

Establishing reliability and validity of selected instrumentsused by occupational therapiststo assess children’s handwritingabilitiesS Duff (nee Doyle), T Goyen

Occupational therapists are requiredto assess, provide intervention andmake recommendations regardingchildren’s handwriting ability.Accurate and practical instrumentsmust be used to assist this. Theresearchers have adopted a function-al approach to handwriting assess-ment and now are examining howconsistent, accurate and practicalthese tests are. This research whichcompares the performance of chil-dren with and without handwritingdifficulties, on these tests, hasreceived a small grant, and ethicsapproval from NCH, the NSWDepartment of School Education andthe Catholic Education Office. Mostof the data collection was completedduring 1998.

Evaluating the effectiveness ofpreparation in reducing psychological sequelae in children undergoing bone marrow transplant: A pilotstudyB Gutierrez, M Wallen, RRhytmeister

Preparation prior to stressful med-ical events has been shown toreduce negative psychologicalsequelae. A preparation booklethas been developed which educateschildren and their carers about thechild’s bone marrow transplant.This study revises the preparationbooklet and then will compare theresponses of children who receivethe preparation with a controlgroup who do not. Measuresinclude state anxiety, hospital-related fears and post-hospitalbehaviour change. The study hasreceived a small grant and ethicsapproval. Booklet preparation wascommenced in 1998.

Test-retest, interrater andintrarater reliability, and validityof the Handwriting Speed TestM Wallen

The Handwriting Speed Test, wasstandardised and norm-referencedon 1292 NSW school students. Itprovides an important addition tothe available assessments of hand-writing used with children withspecial needs, where handwritingaffects their academic perform-ance. This study examined the reli-ability and validity of the test byadministering it to 212 school stu-dents in Years 3 and 6. We foundthe test to have very high interraterand intrarater reliability, good test-retest reliability and preliminarysupport for one aspect of validity.This provides valuable informationto clinicians and researchers usingthe test, about its psychometricproperties and clinical and

55


research relevance. A paper hasbeen completed and submitted forpublication.

Oncology

Psychological impact of cancerand its treatment on childrenJ Collins, B Gutierrez, J Hill, KNunn, R Rytmeister, MM Stevens,M Wallen

Childhood cancer, the treatmentrequired, and the uncertainty aboutlong-term outcome may cause con-siderable psychological stress forthe children undergoing treatmentand their families. We are aware ofthis, but believe our patients andtheir families cope most of the timesurprisingly well with their stress-ful situations. Studies are beingundertaken seeking to lessen unde-sirable psychological sequelaeafter bone marrow transplantation(BMT) by adoption of methods ofpsychological preparation prior toBMT. A study is being planned toassess the incidence of significantdepression in our patients, todevelop strategies to help providemore effective and preventativepsychological support for suchpatients.

Psychological Medicine

Development of criteria for theeffectiveness of parenting programsP Renner

This project was undertaken in col-laboration with South WesternArea Health Service and OrangeArea Health Service. We comparedthe efficiency of treatment and effi-cacy of various combinations ofcomponent programs for childrenwith disruptive behaviour.

Development of treatment programs for self-mutilatingbehaviourP Renner, K Nunn

This project entailed the develop-ment of an intervention strategy foryoung people who present withnon-suicidal self-harm of the self-mutilation type. Innovativeexplanatory and intervention mod-els are required for the complexarea of disturbed behaviours, whichhave implications for a variety ofpsychiatric disorders of affect regu-lation and impulse control. Thestudy will develop an approach toassessment and treatment with theaim of preventing short and long-term adverse outcomes.

Emotional intelligence in adolescents: Assessment ofnormal adolescents and youngpeople with psychiatric disorderB Pratt, K Nunn

In comparison with a wealth ofresearch on general intelligenceand developing cognitive functions,the study of emotional intelligenceand the development of emotionalprocessing abilities has been rela-tively neglected. A renewed focuson the concept of emotional intelli-gence, as applied to both normaldevelopment and the field of childpsychiatry, allows an alternativeapproach to the diagnosis andtreatment of emotional disorder. Areview of the recent literature indi-cates that there are virtually nopublished studies which have usedperformance-based measures tocomprehensively quantify patternsof emotional processing ability innormal and abnormal adolescentpopulations. The proposedresearch project ultimately seeksto determine the clinical utility of abattery of performance-basedmeasures of emotional processingabilities as applied to adolescents

with psychiatric disorder (ie.Asperger’s syndrome and anorexianervosa) and normal controls, andto test the validity of a new three-factor model of emotional intelli-gence. It is anticipated that theapplication of existing measures ofemotional intelligence will offer ameans of evaluating the efficacy oftherapies directed towards improv-ing the quality of life of adolescentswho are low in emotional intelli-gence, and that the findings of theproject will also enhance ourunderstanding of the psychosocialcorrelates of emotional processingabilities in young people.

Training in clinical developmental psychologyP Renner, K Nunn

This will involve the synthesis ofclinical development research withcognitive-behavioural models ofassessment and treatment of childand adolescent mental health dis-orders for testing purposes.

Psychology, Rehabilitation

and Nuclear Medicine

Cognitive fatigue in childrenwith brain injuryJ Hendy, S Lah, A Epps, RHowman-Giles, R Uren, E Bernard,C Roberts

Cognitive fatigue is an under recog-nised and yet common consequenceof brain injury in children.Currently there are no objectivemeasures of cognitive fatigue.Clinical experience in the BrainInjury Unit of this hospital indi-cates that a difference can bedetected between serial SPECTstudies performed when the child isrested and after the child is cogni-tively ‘stressed’ by demanding andeffortful thinking. The ‘stressed’scan shows pathology not present

56


on the ‘rested’ scan. This projectwill examine children with and chil-dren without the symptomatologyof cognitive fatigue after braininjury. Three SPECT studies willbe performed on all children: onewhen the child is rested and oneafter an intensive neuropsychologi-cal assessment. A questionnaire tomeasure levels of fatigue will beadministered to all children partici-pating in the study. Specific neu-ropsychological measures of atten-tion and cognitive endurance willbe included at the beginning andthe end of the neuropsychologicalassessment. In addition, parentswill be requested to complete a setof questionnaires and check listsmeasuring behavioural and psycho-logical phenomena which may havea similar presentation (eg. depres-sion, behavioural disturbances,adynamia, disorders of workingmemory).

Rehabilitation and

Psychology

Attentional deficits in childrenfollowing closed head injuryF Wilkinson, R Tate, T Hannan, KBakker

Recent research with adult sampleshas supported the theory that atten-tional abilities are comprised of sev-eral processes, termed: focussedattention, sustained attention, atten-tional shifting and encoding. Thisstudy aims to examine the attention-al abilities of children who have suf-fered a head injury and to determinethe extent to which each componentof attention is susceptible to theeffects of traumatic brain injury. Inaddition, this study seeks to assessthe relationship between neuropsy-chological measures of attention andthe day to day attentional difficultiesexperienced by children following asevere head injury.

Cognitive functioning in children with spina bifida andhydrocephalusJ Hendy, C West

This project examined the intellec-tual abilities and general copingskills of children who have beenshunted for Hydrocephalus.Despite often having normal intelli-gence, these children frequentlyexperience difficulties at schoolincluding increased distractibility,lack of judgement and reasoning,poor planning and organising skillsand learning difficulties. To datethere has been no good explanationput forward to account for all thesedifficulties. The study aimed to testa theory that these difficulties canbe understood in terms of a disrup-tion to the normal development andexecutive functioning of the brain.The study involved children aged10 who have Spina Bifida andshunted hydrocephalus with a con-trol group of same age and intelli-gence children without hydro-cephalus. Data collection includedneuropsychological evaluation andmedical examination. The resultsof this research will be used todevelop strategies for those indi-viduals who have difficulties inorder to improve their functioningin the classroom and at home. Thedata is currently being analysedand will be available in 1999.

Coping with the emergence ofsexual interest in children withacquired brain injuryJ Hendy, M Simons, A Epps, HDawson

This is a qualitative multidiscipli-nary (neuropsychology, social workand medical) research project aim-ing to explore the issues of sexual-ity following acquired brain injuryin children and adolescents. Theonset of puberty brings with itchanges which can be made more

complicated by the effects of abrain injury. The area of sexualitycreates additional areas of concernfor young people and their families.Social, cultural, religious, ethicaland legal implications add to acomplex situation. Prior to thisresearch no specific informationwas available which addressed sex-uality issues for this group. Theproject aimed to review and con-tribute to the literature, gatherinformation and present this in anaccessible booklet format forhealth professionals and families.Data collection included: focusgroups and key informant inter-views. Following data analysis, adraft booklet was developed andcirculated for comment. It will becompleted and published in 1999.

Posttraumatic stress disordersymptomatology in children following motor vehicle accidentsF Mather, T Hannan, R Tate

While motor vehicle accidents con-stitute one of the most commoncauses of traumatic injury in child-hood, there has been little system-atic examination of the nature andincidence of the psychologicalsymptomatology subsequentlyexperienced by children. This studyinvestigated the incidence of symp-toms of posttraumatic stress disor-der in children who had beeninvolved in a motor vehicle acci-dent. It sought to determinewhether a mild head injury result-ing in a loss of consciousnessdecreased the likelihood of experi-encing a posttraumatic psychologi-cal condition. The results indicatedthat about three children in fourexperienced significant symptomsof posttraumatic stress disorderaround six weeks after their acci-dents, with around 40% of thesecontinuing to be troubled by such

57


symptoms at three months post-accident. The presence of a mildhead injury was found to have noeffect on the likelihood of experi-encing posttraumatic psychologicalsymptoms.

Social competence in childrenwith an acquired brain injuryT Hannan, K Bakker, R Brunsdon,N Reynolds, M Charles

It is well known that children withan acquired brain injury experiencea range of problems in the develop-ment and maintenance of effectivesocial relationships. However, therelative contribution of factorsbelieved to influence social func-tioning is not known. Deficits in thesocial performance of children areoften attributed to poorly developedsocial skills. However, it is notknown whether a child with anacquired brain injury experiencessocial difficulties as a result ofsocial skills deficits, or whether amore important factor is a deficit insocial cognition, which encompass-es the perception and interpreta-tion of social cues and the ability toengage in efficient social problem-solving. Additionally, the presenceof aggressive behaviour is hypothe-sised to be a significant risk factorfor poor social performance. Thepresent study aims to assess thesethree areas of social skills, socialcognition and incidence of behav-iour problems of a sample of chil-dren with an acquired brain injury,and to clarify and examine the con-tribution of each of these factors tochildren’s social performance.

Social Work

Coping patterns of parents withchildren with newly diagnosedphenylketonuria (PKU)B Lord, C Wastell, J Ungerer

A longitudinal study of familieswith children newly diagnosed withPKU, that looks at whetherchanges in parental adjustmenttake place over the first 15 months.PKU is usually diagnosed in thefirst 2 week of life and the first yearappears to be highly important inrelation to long term family adjust-ment. In the study, parents are ini-tially seen for assessment of theircoping and available support whenthe child is 3 months of age, thenfollowed up a year later. In the fol-low-up assessment, changes in theparents' coping are identified, andthe child's emotional and socialadjustment is reviewed. The studywill enhance our understanding ofhow parents cope and of the type ofeducational, counselling, and sup-port services that are required topromote successful adjustment.

Coping patterns of parents withchildren with phenylketonuria(PKU)B Lord, C Wastell, J Ungerer

A study of 72 families with childrenwith PKU, aged 3 months to 12years, that aims to identify theimportant psychological and socialfactors influencing the adjustmentof parents and children. To date,the data related to mothers' adjust-ment have been analysed, andshown that seven, easily measured,factors related to the emotionalimpact of the child's diagnosis andthe quality of support availableexplain most of the differences inmaternal adjustment. Furtherwork will focus on the adaptationof fathers and how parents' coping

influences the adjustment of chil-dren.

Speech Pathology and

Psychology

Language and cognitive development following infanttracheostomyJ Cowell, P Joy

Infants who have undergone long-term tracheostomy may be at riskfor delayed cognitive and languagedevelopment due to periods ofreduced oxygen supply to the brainand the inhibition of vocalisationduring the critical period in whichspeech first emerges. Twenty 7-12year old children who have hadlong term tracheostomy in infancyhave been assessed on a range ofstandardised cognitive and lan-guage measures and their perform-ance compared with that of agematched controls. Results will beanalysed to determine the inci-dence of neuropsychological andlanguage impairments in childrenwith infant tracheostomy and therelationship of this to factors suchas duration of cannulation andadditional neurological deficits.

T.Y. Nelson Department of

Neurology and

Neurosurgery

SYSTEMS: School YearsScreening Test for theEvaluation of Mental Status RA Ouvrier, J Hendy, L Bornholt,FH Black

The development of a screeningtest of higher mental function in 4 -11 year old children has been com-pleted and is now being trialed inclinical situations in Australia andoverseas. Over 1200 normal chil-dren were examined using a 46-item test battery. Inter-rater and

58


test-retest reliabilities were deter-mined. The test has been shown tohave high reliability in the detec-tion of cognitive deficits. An articleis in press in the Journal of ChildNeurology. The Hospital is examin-ing the marketing of this test.



Health

Predictions of outcome in sexually abused childrenRK Oates, P Parkinson, BIO’Toole

Children with documented sexualabuse were followed into adoles-cence and young adulthood andcompared with a group ofnonabused young people. Youngpeople’s behaviour and psychologi-cal functioning were assessed.Non-offending parent’s mentalhealth and family functioning werealso measured. Further notifica-tions to the Department ofCommunity Services, VictimsCompensation, court proceedingsagainst perpetrators and criminalactivity in young people were alsoexamined. The study is now in itsfinal phase the 9th year of followup. This is the largest and longestcontrolled follow up study everdone in this area.


Program (Clinical

Genetics)

The impact on couple relationships of predictive testing for Huntington DiseaseFH Richards, LC Adés, EAMcCusker, DO Sillence, RJ Trent,MJ Wilson

In 1996 a longitudinal study wascommenced, one of the few studiesto date which has investigated the

impact on couple relationships ofpredictive testing for HD. Thisstudy has been extended to includean 18 month data collection and toobtain a larger sample.

Towards an understanding ofcouples' experiences of predictive testing and livingwith the Huntington Diseaserisk: A qualitative studyFH Richards

It has been acknowledged thatthere is a need for more qualitativeresearch to be undertaken into theexperiences of those who are living(or have lived) with the threat ofHD. This study was commenced inDecember 1998 in order to gain adeeper awareness of the issues fac-ing couples where one partner is atrisk of HD. Selected couples fromthe longitudinal study were invitedto participate in an in-depth inter-view. To date, ten couples havebeen interviewed (each partnerseparately) - five couples from thetesting group and five from thenon-testing group. All interviewshave been conducted by the sameinterviewer utilising an interviewguide covering topics relevant tothe aims of the study.

Velocardiofacial syndrome: clinical review and evolution ofthe phenotypeR Sachdev, M Wilson

A clinical review of a large cohortof patients diagnosed at this hospi-tal with the velo-cardio-facial(Shprintzen) syndrome and correla-tion with the chromosome 22 FISHresults. This involved furtherassessment of patients with atypi-cal clinical phenotypes or laborato-ry results; and identification oflong-term complications includingarthritis and psychosis.



Behaviour and emotional disturbance in Prader-WilliSyndromeS Einfeld, B Tonge, A Smith

From previous studies, we haveshown a distinct behavioural phe-notype in Prader-Willi syndrome(PWS). The aim is now to followthese patients, all with appropriateDNA confirmation of PWS, over alongitudinal course of behaviourand emotional problems into ado-lescence and compare the findingswith other young persons withknown syndromes and a controlgroup of persons with intellectualhandicap.

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Population Health

Australian Paediatric

Surveillance Unit (APSU)

Acute flaccid paralysisR D'Souza, M Kennett, J Antony,H Longbottom, E Elliott

This study was undertaken in col-laboration with the National Centrefor Disease Control in theCommonwealth Department ofHealth and Aged Care. Active sur-veillance of Acute Flaccid Paralysis(AFP) is currently being performedin Australia to assist the WorldHealth Organisation in eradicatingpoliomyelitis worldwide by the year2000. The study aims to estimatethe incidence of AFP, describe theirclinical features and determinewhether any cases are due to para-lytic 'wild' poliovirus. For the peri-od 1995-8, the estimated nationalincidence was 0.7/100,000 childrenaged <15 years and there were noidentified cases of AFP due to'wild' or vaccine poliovirus inAustralia. Guillain-Barre syn-drome and transverse myelitisaccounted for the majority of AFPcases.

Haemolytic uraemic syndromeE Elliott, J Burke, P Henning, GHogg, J Knight, E O'Loughlin, DRedmond, H Powell, R Robins-Browne, V Bennett-Wood

This study was undertaken in col-laboration with the Department ofMicrobiology and InfectiousDiseases, Royal Children'sHospital (Flemington, VIC).Haemolytic uraemic syndrome(HUS) results in acute renal failurein children. Most commonly, HUSis a complication of gastrointesti-nal infection with Shiga-toxin pro-ducing E. coli (STEC). This study

aims to estimate the incidence,clinical features and outcomes ofHUS. The estimated national inci-dence of HUS for the period 1994-8was 1.3/100,000 in children aged<5years. The most common STECisolated from children with HUSwas 0111:H-, though seven otherisolates were identified. No STECO157:H7 was isolated. This infor-mation may have public healthimplications as non-O157:H7strains of STEC can lead to severedisease and may cause outbreaksin Australia.

HIV infection, AIDS and perinatal exposure to HIVA McDonald, M Cruickshank, JZiegler, J Kaldor, E Elliott

This study was undertaken in col-laboration with the National Centrefor HIV Epidemiology & ClinicalResearch (Darlinghurst, NSW).Perinatal exposure to HIV is nowthe only reported source of HIVinfection in Australian children.This study aims to identify newcases of perinatal exposure to HIVand describe the pattern of perina-tal exposure to HIV in Australia.During the period 1982-98, theestimated national incidence ofperinatal exposure to HIV was1.4/100,000 live births. Thirty-twopercent of exposed infants devel-oped HIV infection. For childrenborn to mothers with HIV between1995-8, the perinatal HIV infectionrate was significantly lower in new-borns delivered by caesarean sec-tion, not breastfed and whosemothers received antiretroviraltherapy. The main source of moth-ers' exposure to HIV was hetero-sexual contact.

Subacute sclerosing panencephalitisJ Hanna, R Messer, P Procopis

This project was undertaken in col-laboration with the Tropical PublicHealth Unit (Cairns, QLD).Subacute sclerosing panencephali-tis (SSPE) is a rare, late complica-tion of measles and is invariablyfatal. Because there is a consider-able delay between measles infec-tion and onset of SSPE, affectedchildren may not present for sever-al years. The study aims to esti-mate the incidence of SSPE anddetermine the proportion of chil-dren with SSPE who have a priorhistory of measles or measles vac-cination. The estimated nationalincidence of SSPE was0.03/100,000 children <16 years ofage for the period 1995-8. In chil-dren with a definite history ofmeasles infection, the delaybetween infection and onset ofsymptoms of SSPE ranged from 14to 16 years.

Vitamin K deficiency bleeding(including HaemorrhagicDisease of the Newborn)K Chant, E Elliott, D Henderson-Smart, P McDougall, P Loughnan,L Taylor

This study was undertaken in col-laboration with the NSWDepartment of Health. Changes inthe recommendations for theadministration of vitamin K in thenewborn period were introduced in1992 after an association betweenintramuscular vitamin K and child-hood malignancy was reported.Further data did not substantiatethis association and revised recom-mendations were released in March1994. This study aims to estimatethe incidence of HDN, its morbidityand mortality. The estimatednational incidence for the period

60


1993-8 was 0.9/100,000 live births.Infants presented with skin bruis-ing, gastrointestinal, umbilical orintra-cranial bleeds and bleedingpost circumcision. It is recom-mended that vitamin K be adminis-tered to infants in accordance withcurrent NH&MRC guidelines.

Child Protection Unit

Uptake of referrals and recommendations following amedical and psycho-socialassessment at the ChildProtection UnitR Lamb, S Foley, D Wheeler

The research project was conduct-ed to gather baseline data andassess factors associated with pro-viding continuity of care for chil-dren, suspected of being abused,and their carers after assessmentat a tertiary hospital-based childprotection unit. One hundred casesof children referred to the RoyalAlexandra Hospital for Children'sChild Protection Unit (CPU), from1st July 1997 to 30th June 1998,were randomly selected andreviewed. Results indicate thatthis was a highly mobile popula-tion. 46% moved or changedaddress in the 12 months followingreferral. 80% of surveyed familieswere able to take up referrals insome form. Abuse type appeared toaffect uptake of referral. 92.5% ofsexual abuse cases reported someuptake of referral while only 57%of physical abuse and 50% of neg-lect cases reported some follow up.In all but the youngest age group,the uptake score by age was over60%. For children less than 12months, uptake was 46%. 43% ofparents surveyed said theyreceived enough information tocontact the referral service. Wherethe CPU negotiated follow up serv-ices, uptake rate was significantly

higher (88%). 31% of childrenwere renotified to the Departmentof Community Services in the 12months following assessment. Inconclusion, the rate of uptake offollow up services was inadequatein this sample. The follow up careand families was connected to thetype of abuse and the referralprocesses involved. The findings ofthis study have implications forservice delivery, and communica-tion with families, agencies andprofessionals.

Clinical Epidemiology Unit

The Childhood AsthmaPrevention StudyJ Peat, C Mellis, G Marks, SLeeder

This is a 5 year randomised con-trolled trial investigating the effec-tiveness of strategies for prevent-ing the onset of asthma in children.The interventions involve housedust mite reduction and dietarymodification. Since asthma has itsorigins in infancy, these interven-tions are commenced at birth, andwill focus on the children who aremost at risk of developing the dis-ease. To date more than 500 babieshave been recruited throughLiverpool, Westmead andBlacktown Hospitals. They are ran-domised to one of four differentgroups and they are monitored forthe onset of allergic illness andasthma over a period of four years.

Emergency

Parents' utilisation of a tertiarylevel paediatric emergencydepartment of primary healthcare servicesS Woolfenden, G Browne, MMcCaskill, B Fasher

A qualitative study using in depthinterviews of parents of childrenwith non-urgent illnesses attendingthe waiting room of the NewChildren’s Hospital EmergencyDepartment. This project aims toexplore their attitudes, perceptionsand beliefs which play a role intheir use of a tertiary hospital forprimary care services. This infor-mation has the potential to aid fur-ther planning of primary healthcare services for families.

Immunology and

Infectious Diseases

Australasian Study Group forNeonatal Infections. Ongoingprospective study of epidemiology of neonatal infections in Australia andNew ZealandD Isaacs

An ongoing prospective study ofthe demographic features of infect-ed babies and the organisms caus-ing neonatal infections in 11 neona-tal intensive care units throughoutAustralia and New Zealand. Thisstudy will collate and report com-parative data analysed in the con-text of different healthcare set-tings.

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Immunology and

Infectious Diseases and

APSU

Neonatal herpes simplex virusinfectionCA Jones, D Isaacs, P McIntyre, TCunningham, C Minutillo

Neonatal infection due to herpessimplex viruses (types 1 and 2) isuncommon, but devastating.Infection can manifest as diseaselocalised to the skin, eye or mouth,as encephalitis, or as a disseminat-ed infection. In the United States,the mode of presentation inneonates has changed over the lasttwo decades with an increase infrequency of localised disease anda decline in disseminated infection.This has been indirectly linked tothe use of antiviral agents. In theUSA, mortality associated withencephalitis or disseminated dis-ease is high, although it hasdeclined with the use of antiviralagents. The development ofimproved, therapeutic and preven-tative strategies is a high priority.However, the incidence and modeof presentation of this neonatalinfection in Australia is not knownand must be delineated before newtherapeutic strategies can beimplemented. Therefore, a 5 year,propective study was commencedin 1997 with the APSU to: 1) esti-mate the incidence of neonatal HSVinfection in Australia, 2) determinethe proportion of HSV infectedbabies with disseminated disease,localised disease or encephalitis,and 3) determine the mode ofacquisition of HSV infection.

Primary immunodeficiency disorders in Australian childrenA Kakakios, K Baumgart, WBritton, M French, G Gold, PHogan, K Forsyth, E Benson, DIsaacs, A Kemp, R Loh, DRoberton, J Zeigler, M Codarini

This multicentre, cooperative studywas undertaken in collaborationwith APSU and Australian Societyof Clinical Immunology and Allergy.This study will document the typeand incidence of primary immunod-eficiency disorders in Australia,enabling resource planning fortreatment of pirmary immunodefi-ciencies.

National Centre for


and Surveillance of

Vaccine Preventable

Diseases (NCIRS) and The

New Children's Hospital's

Centre for Immunisation

Research

Australian ChildhoodImmunisation Register (ACIR)P McIntyre, T Heath, B Hull, HBritt

In 1996, the CommonwealthDepartment of Health and FamilyServices established the AustralianChildhood Immunisation Register(ACIR), whose objective is toimprove immunisation rates andtimeliness of vaccination by send-ing reminder letters to parents.The ACIR also operates the record-ing system for the financial incen-tives package implemented forproviders and parents during 1998.The NCIRS is responsible for eval-uating and interpreting the routinedata collected by the ACIR. Thiswork is performed in collaborationwith the Family Medicine ResearchUnit, University of Sydney. The

impact of the financial incentiveson immunisation uptake and onproviders has been monitored.Explanatory models for good andpoor immunisation coverage havebeen developed and coverage ratesmapped. The Register data arebeing used to evaluate: 1) theimpact of the introduction of acel-lular pertussis vaccine; 2) theenhanced measles control program;and 3) the financial incentivespackage.

Cost effectiveness of varicellavaccine programs in AustraliaP Scuffham, A Lowin, M Burgess

Varicella (chicken pox) vaccine isnow included in the routine child-hood vaccination schedule in USA.The vaccine is available in manycountries and is likely to becomeavailable in Australia in the nearfuture. This study was carried outin collaboration with the Centre forHealth Economics Research andEvaluation, University of Sydney.The study aimed to examine thecost effectiveness of three differentpotential varicella vaccination pro-grams in Australia compared withno vaccination. The cost of the vac-cine was estimated at $53 per dose(Australian equivalent of the cur-rent cost in New Zealand). Onlydirect health care costs wereincluded in the analysis. Massinfant vaccination was more costeffective than targeted adolescentvaccination with the average costper case averted being $64. Thiscost fell significantly if the vaccinewas lower priced. A vaccinationprogram would only be cost savingif societal costs (estimated to be80% of the costs of varicella to thecommunity) were included.Studies in USA, New Zealand,Germany and France have shownsimilar results.


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Evaluation of the AustralianMeasles Control CampaignF Turnbull, H Achat, M Burgess, BHull, S Lambert

In 1996 the World HealthOrganization recommended that agoal of worldwide eradication ofmeasles be established with a tar-get date between 2005-2010. In1997 the Commonwealth announcedthat Australia would implement anenhanced measles control programand that would commence with theMeasles Control Campaign in thethird and fourth quarters of 1998.The Campaign consisted of anational media and education pro-gram together with three interven-tions, the first being a change inthe schedule for measles-mumps-rubella vaccine by moving the sec-ond dose from age 10-16 years toage 4 years. This was accompa-nied by a catch up program of vac-cination in all 8000 primaryschools (1.7 million children)throughout Australia and a sepa-rate program aimed at preschoolaged children who had no record ofhaving had a dose of MMR vaccine.The NCIRS was commissioned toevaluate this program. The evalua-tion involved telephone interviewswith almost 3000 parents through-out Australia to estimate the vacci-nation coverage and impact of theCampaign. The report will be com-pleted by June 1999.

Immunisation adverse eventsT Heath, P McIntyre, M Burgess,H Goodwin, F Turnbull, F Payne

Consultation with the States andTerritories has taken place aboutthe current definitions and possibleunder–reporting of immunisationadverse events. Methods forimproving retrieval and analysis ofthese data are being considered inview of current consumer concernabout their validity.

Laboratory surveillance andserosurveysL Gilbert, T Heath, M Burgess, PMcIntyre, R Escott

These projects are being performedin collaboration with the Centre forInfectious Diseases and Microbiology,Institute of Clinical Pathology andMedical Research, WestmeadHospital. By using existing labora-tory data on VPDs from the Statesand Territories and coordinating acollaborative cross-sectionalnational survey on approximately8000 sera collected opportunisti-cally from children and adults, weare assessing the need for newimmunisation programs and forimproving existing ones.Serological evidence of immunity tomeasles, rubella, hepatitis A, hepa-titis B, diphtheria and tetanus arebeing studied in the first two years.These data are essential for pro-gram monitoring and policy devel-opment. A collection of a further3000 sera is planned for early in1999 to evaluate the impact of theMeasles Control Campaign.

Morbidity of pertussis in adultsP Thomas, P McIntyre, B Jalaludin

Ninety-three notified cases of per-tussis in adults aged 20 years orover were studied. 73 took part ina telephone questionnaire. Theclinical diagnosis satisfied theWHO criteria (greater than or equalto 21 days paroxysmal cough) in79%. The illness was generallyprolonged with the mean durationof cough being 71 days. There wasan average of 3.7 GP consultationsfor each case and 1 specialist orAccident and Emergency visit forevery 5 cases. Every case hadantibiotics and other drugs. 71% ofemployed persons lost work (mean10 days). Adults were frequentlythe first case in the household, sup-porting the concept that adults play

a role in the transmission of per-tussis to susceptible children.

Program evaluation and policydevelopmentP McIntyre, T Heath, M Burgess, JAmin, S Lister

The new vaccines which willbecome available in the next fiveyears in Australia will include lessreactogenic but more expensivevaccines. Some of these vaccines(acellular pertussis and varicella)may also have a place in adultimmunisation schedules. Economicand epidemiological studies of vari-cella, rotavirus, respiratory syncy-tial virus, hepatitis A and pneumo-coccal infection are currentlyunderway.

Review of immunisation coverage in AustraliaS Lister, P McIntyre, M Burgess,T Heath

The 1995 Australian Bureau ofStatistics (ABS) Survey on theimmunisation status of childrenunder the age of six years showedthat only 52% had completed theirimmunisation. This study suggest-ed that uptake rates had plateauedover the previous 5 years and led tothe development of the ‘SevenPoint Plan’ devised by theCommonwealth Department ofHealth and Family Services toimprove this situation. The NCIRSreviewed the current levels ofimmunisation coverage in Australiausing reports of regional studies tocompare with data from theAustralian Childhood Immunis-ation Register (ACIR) and the ABSand help identify gaps in services.The review showed that coveragewas likely to be 10-15% higherthan currently estimated by theACIR and suggested that anotherABS survey should be carried out.

Surveillance of vaccinepreventable diseases (VPDs)P McIntyre, T Heath, M Burgess, JAmin, S Lister, S Torvaldsen

National notifications of measles,rubella and pertussis were veryhigh during 1993 and 1994 (morethan 3000 cases each) and haveremained very high for pertussissince then. Where possible, thecost to the health care system ofthese outbreaks is being estimatedin order to emphasise the impor-tance of increasing immunisationrates. An analysis of the impact ofthe recent pertussis outbreak isbeing prepared and other work isfocusing on hepatitis A, respiratorysyncytial virus and pneumococcalepidemiology.

The national measles elimination surveillance strategyT Heath, M Burgess, P McIntyre,M Catton, L Gilbert

A national program of revaccina-tion of all primary school childrenfor measles took place in late 1998.The NCIRS, in collaboration withthe Measles Elimination AdvisoryCommittee and the CommunicableDiseases Network of Australia andNew Zealand, drew up the policydocument for measles surveillanceto be implemented with the pro-gram. Enhanced surveillance isessential for successful eliminationof measles from Australia.

The vaccine adverse eventsconsultative clinicM Burgess, D Isaacs, P McIntyre,A Kakakios, C Kappagoda, HGoodwin, F Payne, F Turnbull, SBotham, ME Byrne

Many children are falsely perceivedto have contraindications to routinechildhood immunisations particu-

larly to vaccination with pertussisvaccine. This clinic was estab-lished to provide a consultativeservice for referral by health careprofessionals of children whoeither have had an adverse eventfollowing a prior immunisation orwho have other contraindicationsto vaccination. Experience of otherclinics of this type has been thatthe majority of these children canbe safely vaccinated. The clinic hasworked on a research basis; allchildren are being followed up andevaluated. A study of children whohave experienced collapse reac-tions after pertussis vaccinationhas been undertaken in collabora-tion with similar clinics in Adelaideand Melbourne. Almost 100 chil-dren who have experienced thesereactions have been vaccinatedwithout complication.

NCIRS and APSU

Congenital rubella in AustraliaM Burgess, J Forrest

Despite widespread vaccinationrubella has continued in the com-munity particularly in men andboys and outbreaks have occurredeach Spring since 1992. This studyaimed to document the incidence ofcongenital infection and evaluatethe vaccination program throughthe Australian PaediatricSurveillance Unit. 21 infants withdefects were born in Australia inthe 6 years 1993–1998 inclusive;four died. Most of the mothers hadnot been vaccinated. There wasonly one new case born in 1997 andnone in 1998 compared with 5 ineach of the previous 5 years. Thisprobably reflects the much lowerrubella activity in the community in1995 and 1996. Recent immi-grants, particularly from Asia, areat highest risk.

Invasive Haemophilus influenzae infectionP McIntyre, D Isaacs, E O'Brien,G Hogg, L Gilbert, D Roberton, FPayne

Invasive Haemophilus influenzae(HI) type b (Hib) disease hasbecome increasingly rare inAustralia since Hib vaccines wereincluded in the immunisationschedule in 1993 for children under5 years of age. Case numbers ofHib disease under 5 years of agehave declined from over 500 peryear to 33 reported cases in 1997.As children with invasive HI usual-ly come under the care of a paedia-trician, the Australian PaediatricSurveillance Unit (APSU) HIreporting scheme was introducedin 1998 as an additional source ofdata to routine notifications to theNational Notifiable DiseasesScheme (NNDS). 40 reports ofinvasive H. influenzae disease werereceived by the APSU in 1998, ofwhich 20 were definite cases.There were six non type b cases, ofwhom five had a predisposing con-dition - nephrotic syndrome,Mondini malformation, acute lym-phatic leukaemia or being in theneonatal age group. Of the 14 HItype b cases, 7 were cases ofmeningitis and 3 of epiglottitis.Two cases of meningitis occurredin Aboriginal children who wereunimmunised. 7 of the childrenwith type b disease were adequate-ly immunised for age. The APSUmonitoring proved valuable and isongoing.


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Neonatology and Grace

Neonatal Nursery

Australian and New ZealandNeonatal Network (ANZNN)R Halliday, P Barr, J Wojtulewicz,S Laing, N Badawi

ANZNN is an audit of clinical careset up under the National PerinatalStatistics Unit, a collaborating unitof the Australian Institute ofHealth and Welfare. This is anational minimum data set with alllevel III units in both countriescontributing data, in an effort toimprove care of high risk newbornsand their families through collabo-ration and research. As a networkof pooled data it provides a coredata set that identifies trends andvariation in neonatal morbidity andmortality, enhances the ability tocarry out multicentre studies andrandomised controlled trials, moni-tors the use of new technologies,provides quality assurance, andcan be used to develop and evalu-ate both clinical risk scores andclinical indicators for perinatal carethrough neonatal outcomes. Datastandards meet the requirements ofthe International NeonatalNetwork. ANZNN publishes a year-ly report.

Cochrane Systematic Review:Oral versus nasal endotrachealintubation in neonatesK Spence, P Barr

The purpose of the review is tocompare the benefits and complica-tions of the oral versus nasal routeof tracheal intubation for mechani-cal ventilation in newborn infants.All trials using random or quasi-random allocation of patients toeither the nasal or oral route ofintubation were included. Thestandard method of the CochraneCollaboration and the Neonatal

Review Group was used to assessthe methodological quality of theincluded studies. Only two eligi-ble randomised trials were found.Data from these two trials failed toshow significant differencesbetween the oral and nasal route ofintubation for mechanically venti-lated neonates. The rate of failureto intubate using the nasal routewas higher in one study. One studyfound post-extubation atelectasisoccurred more frequently in nasallyintubated infants who weighed lessthan 1500 gms.

Neonatal Intensive Care UnitStudy (NICUS)R Halliday, P Barr, J Wojtulewicz,S Laing, N Badawi

NICUS is an audit of the care andoutcome of infants born in NSWand ACT who were less than 32weeks gestation, or less than 1500grams, or who require major sur-gery, or receive assistance withventilation; admitted to a neonatalintensive care unit within the first28 days of life. The study is moni-tored by a clinical research com-mittee, under the guidance of theNSW Perinatal Services Network.This information is also used toplan future development of perina-tal services in NSW. The NICUSgroup produces a report on eachyear’s statewide data which is pub-lished as a NSW Public HealthBulletin.

Underlying congenital diseasesin term infants with necrotisingenterocolitis - a regional studyin NSW and ACTS Bolisetty, J Wojtulewicz, K Lui

The aetiology of necrotising entero-colitis remains poorly understoodin infants of all gestations, particu-larly at term. We hypothesisedthat necrotising enterocolitis atterm is often associated with

underlying disease and so under-took a population-based study toidentify these underlying illnesses.We retrospectively reviewed themedical records of case infantsover a six and a half year periodand identified 29 term infants withenterocolitis. Twenty infants(69%) had an underlying diseaseand we found that some of thesewere endocrinopathies which is anew finding. This is particularlyimportant in view of the fact thatprompt treatment of endocrino-pathies may be life saving.


Unit

Parents and paediatricians: representations of parents inmedical texts from 1850 to thepresent dayJ Gillis

This project looks at the relation-ship between parents and physi-cians, especially paediatriciansover time. Medical texts from 1850to the present day are beinganalysed to see how parents havebeen represented over this period.This research is part of a PhD the-sis at the University of New SouthWales.

Psychological Medicine

The epidemiology and classification of autistic spectrum disorders in NSWK Williams, K Nunn, C Mellis

Autism was first described in the1940s as a disorder characterisedby abnormal communication,behavioural and social interaction.Since then it has become apparentthat many children have theseproblems without fulfilling a strictdiagnosis of autism. This study willestablish an anonymous, NSW-wide

database of children with problemsof the kind seen in autism. A ran-dom sample of children notified tothe study will be clinicallyreviewed. From this the frequencyof these disorders, the availabilityof services, associations with otherconditions and their appropraiteclassification will be determined.The database will facilitate furtherresearch into the potential causesof autism and to evaluate treat-ments.




The effect of birth size, geneticand environmental factors onblood pressure, abdominal fatand bone density in midchildhood (The NepeanStudy)S Garnett, T Yu, B Moore, L Baur,R Fay, J Briody, C Cowell, GAmbler, R Howman-Giles, J Knight

The Nepean Study has followed upapproximately 450 subjects, 260 ofwhom have had a bone densitystudy, at age 7-8 from a birth cohortof approximately 2300 bornbetween August 1989 and April1990 at Nepean Hospital.Recruitment finished in August1998.This study will analyse envi-ronmental and genetic factors thatmay be regulating blood pressure,abdominal fat, bone mass andgrowth in mid childhood.

The epidemiology of childhooddiabetes in NSW and the ACTN Howard, M Craig, M Lloyd, AChan

The existence of the APEG insulindependent diabetes mellitus regis-ter at the Hospital since January1990 has allowed the study ofannual incidence and prevalence of

the disease in NSW and the ACT.Seven years of data have now beenanalysed and a rise in incidence ofapproximately 3% per year hasbeen found. The greatest rise hasbeen in toddlers, approximately 5%per year. There has also beenanalysis of ethnic and regional dif-ferences in IDDM incidencethroughout NSW.

Speech Pathology and

Otolaryngology

Normal voice parameters ofAustralian childrenD Fitzsimons, C Birman

The study aims to collect a widerange of normative voice data ofthe Australian paediatric popula-tion. This data will be analysed inthe New Children's Hospital VoiceClinic using the ComputerisedSpeech Laboratory.

Surgical Research

Clinical and molecular geneticaspects of Hirschsprung's diseaseD Croaker, P Manglick, D Cass

Our laboratory has 12 years experi-ence in establishing a clinical andgenetic database on Hirschsprung'sdisease. Initially this was restrict-ed to clinical data from WestmeadHospital, RAHC, Monash andQueensland cases. In addition,genetic material was sent overseasas a collaborative study. We haveexpanded the above to an extensiveNSW clinical database and havedeveloped in-house genetic muta-tional analysis. A locus on chro-mosome 21 has been excluded.New genes have been described byother laboratories and we have col-laborated to try to understand howthe genes interact to produceHirschsprung's Disease. Clinical

analysis has identified previouslyundescribed associations and givennew clues as to where to look forgene mutations related toHirschsprung's disease.

NSW all ages trauma deathreview studyD Cass, L Lam, F Ross

We were approached in 1996 by M.Hill (Department of Health) toexpand the paediatric (0-14) trau-ma death review study to includeall ages. As in the initial studieswe rely on police notification to thecoroner and we enter the core data.This has resulted in an up-to-datedata set that allows for trends to beseen early. There are still problemswith full notification from someareas. In the future we hope to fur-ther develop this database. Also,the database has provided an excel-lent starting point for other stud-ies.

NSW suicide and illicit drugsrelated deaths surveillance projectL Lam

This is a intersectorial collabora-tive study based on the above deathreview study but also includes thesuicide branch of the HealthDepartment and the NCH. The aimof the project is to set up a moredetailed surveillance system forcollating information on suicides.The project is funded by the NSWDepartment of Health and housedat the NCH.

Paediatric death reviewD Cass, F Ross

This study has now been inprogress for 11 years (started in1989) and collates epidemiologicaldata with hospital and post-mortemreports. We rely on notification


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67

from the coroner (which in turnrelies on police notification). Wethen look at the full coronersreport, detail the events and theinjuries. Where possible we includehospital data. Over 1000 paedi-atric (0-14) deaths have been col-lected and the information used forinjury prevention and improve-ments in treatment.

Surgical Research and

APSU

Hirschsprung's diseaseD Cass, D Croaker, L Lam, F Ross,E Shi, R Walker, R Yardley, EElliott

Modern diagnostic and treatmentmethods have improved survival forpatients with Hirschsprung's dis-ease, however, its epidemiology inAustralia is unknown. This studyaims to estimate its incidence,describe its clinical features andassociated anomalies and evaluatethe genetic contributions to the dis-ease.

The Institute of Pathology

Iron deficiency in Sydney childrenP Beal, B Webster, A Lammi, MKarr, M Mira, G Alperstein

This study, performed in conjunc-tion with the Division of GeneralPractice, Central Sydney, is nowconcluding. Children of Arabicbackground have been investigatedfor iron deficiency and the abnor-mal haemoglobins detectedamongst this group have now beenidentified.

Plasma Vitamin A, RetinolBinding Protein, Lipids andVitamin E in childrenJW Earl

Analysis of vitamins, proteins andlipids in plasma samples fromPapua New Guinea children is pro-gressing. There are distinct differ-ences between the various PNGvillages in the levels of some ofthese nutritional markers and con-siderable differences when com-pared with plasma levels of chil-dren living in Sydney.

Population pharmacoknetics ofamphotericinC Nath, A McLachlan, P Shaw, JEarl

The population pharmacokineticmodel previously developed isbeing used to determine optimaldoses of amphotericin for childrenof different ages and to minimiseadverse effects and improve out-comes.

The incidence of melanosisappendix in childrenN Graf, S Arbuckle

We retrospectively reviewed 300cases of appendices to look at theincidence of melanosis appendix inchildren. It far exceeds that record-ed in other age groups. We maynow look at its relationship toapoptosis.



Health

Is paediatric inpatient medicineevidence based?E Elliott, A Gist, V Moyer

This study is conducted in collabo-ration with the Lyndon B Johnson

Hospital, Houston Texas. It exam-ines and compares the extent towhich primary interventions areevidence-based in inpatient paedi-atric practice in Sydney andHouston.

Obesity and families: a biochemical and epidemiological studyKS Steinbeck, LA Baur, K Brock

Obesity is an increasingly prevalentproblem in Australia. Obesity isdifficult to treat and long termresults are poor. It makes sense todiscover a way to work out whichpeople are "at risk of obesity" andthen to work at preventing obesityin these individuals. Prevention isparticularly applicable to children.Research shows that obesity runsin families and intervention for obe-sity would need to happen in a fam-ily context. In this study, baselinefasting leptin and HDL-cholesterollevels appear to predict which chil-dren had the greatest weight gainover a one year period.




Outcomes and knowledge inconsanguineous marriages1998V Langsdorf, D Sillence

This study has ascertained a cohortof couples from among our EasternMeditteranean who have previouslyhad a child with a rare recessivedisorder. We are seeking to com-pare the experiences and knowl-edge of consanguineous and non-consanguineous couples.


Program (Biochemical

Genetics And Newborn

Screening)

Use of tandem mass spectrometry in newbornscreeningV Wiley, K Carpenter, B Wilcken

Investigation of the utility of tan-dem mass spectrometry in the rou-tine newborn screening laboratory.We are defining the specificity andsensitivity of the technology fordetecting a wide range of disordersof amino acid, organic acid andfatty acid metabolism. We are alsoinvestigating the influence of ges-tational age, birth weight, andother neonatal factors on the bloodlevels of various analytes, and theusefulness of using ratios of ana-lytes in the diagnosis of specificdisorders.


Program (Clinical

Genetics) and APSU

Arthrogryposis multiplex congenitaL Taylor, G Morgan, M Wilson

This study aims to determine theincidence of arthrogryposis multi-plex congenita (AMC), to describethe pattern of malformationsamong these children and to identi-fy possible causative genetic orparental factors.



and APSU

Investigation to establish incidence of Prader-Willi syndrome in AustraliaA Smith, E Haan, P Montgomery,G Warne, J McMillan, K Williams,E Elliott

While the Prader-Willi syndrome(PWS) appears to be distinctive,virtually all the features are non-specific and diagnosis is oftendelayed. Incidence figures cover awide range (from 1/5,000 to1/100,000) depending on the popu-lations studied. A new study of theAustralian Paediatric SurveillanceUnit aims to determine the inci-dence in Australia. This is a 3 yearproject, which commenced inJanuary 1998. The questionnairehas been designed so that theuptake of genetic testing inAustralia can also be assessed andprovide data on whether significantdifferences are present betweenpatients with deletion and thosewith uniparental disomy. The firstyears figures and data will appearin the APSU Annual report.


68

staff & studentsRESEARCH REPORT 1999

69

Name - Elle. Age 9.

“When I grow up, I want to be a painter like my dad.”

staffRESEARCH REPORT 1999

Adolph Basser Cardiac InstituteDirector

Dr Gary Sholler, MBBS FRACP, Clinical Researcher

Research Staff

Dr Meredith Sheil, MBBS FRACP, Senior ResearchFellow

AnaesthesiaHead

Dr John Keneally, MBBS FANZCA

Centre for Kidney ResearchDirector

Dr John Knight, MBBS MA MBA FRACP, Clinical Researcher

Research Staff

Dr Takashi Ando, PhD MD, Clinical Research FellowDr Jonathan Craig, MBBChir DipCH MMed(Clin Epi)PhD FRACP, Clinical ResearcherDr Iraj Ghadiminejad, PhD, Senior Research FellowDr Elisabeth Hodson, MBBS MRCP FRACP, ClinicalResearcherDr Anna Lee, PhD MPH BPharm, Senior ResearchOfficerMs Eve Reed, BSc DipNutrDiet MDAA, ClinicalResearcherA/Prof Paul Roy, MBBS BSc(Med) FRACP, ClinicalResearcherMs Premala Sureshkumar, BSc, Research AssistantMs Dushyanthi Vimalachandra, BA MPH, SeniorResearch OfficerDr Giles Walters, BA MB ChB MRCP, ClinicalResearch FellowMs Debbie Watson, BSc(Hons), Research AssistantMs Danielle Wheeler, BSc, Research AssistantDr Gabrielle Williams, BSc(Hons) PhD, ResearchOfficerMs Narelle Willis, BSc MSc, Research AssistantDr Huiling Wu, MD, Research AssistantDr Geoff Zhang, MD, Senior Hospital Scientist

Child Protection UnitDeputy Director

Ms Robyn Lamb, BSocSt, Clinical Researcher

Research Staff

Ms Sue Foley, BSocSt MA MSW, Senior ResearchOfficer

Children’s Hospital Education Research

Institute (CHERI)Director

Prof Jeff Bailey, TC BA MLitt MEdAdmin MPhil EdDFACE, Supervisor of Projects

Research Staff

Ms Belinda Barton, BA(Hons), Research OfficerDr Lee Ling Kok, BSc DipEd MSc PhD, SeniorResearch Fellow

Children's Chest Research CentreCo-ordinator

Dr Karen McKay, PhD, Senior Research Fellow

Research Staff

Ms Sara Cooper, RN, Research AssistantDr Peter Cooper, MB ChB BscMedSc MRCP FRACP,Clinical ResearcherMs Anne-Maree Davis, BSc(Nursing) RN, ClinicalResearcherDr Rolando De La Eva, MD DPPS, ClinicalResearcherA/Prof Henry Kilham, MBBS FRACP, ClinicalResearcherMs Karen Magoon, MSc(Nursing), ResearchAssistantDr Chris Seton, MBBS FRACP, Clinical ResearcherDr Kunling Shen, MD, Clinical ResearcherMs Lucia Smith, BSc, Research AssistantA/Prof Peter Van Asperen, MD BS FRACP, ClinicalResearcherDr Karen Waters, MBBS PhD FRACP, ClinicalResearcher

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Children's Hospital Institute of Sports

Medicine (CHISM)Head

Prof Cameron Blimkie, PhD FACSM, ClinicalResearcher

Research Staff

Dr Nathalie Farpour-Lambert, MD, Clinical ResearchFellow

Clinical Epidemiology UnitHead

Prof Craig Mellis, MBBS MD MPH FRACP, ClinicalResearcher

Research Staff

Ms Samantha Forbes, RN CM, Research AssistantMs Seema Mihrshahi, BSc(Hons), Research AssistantDr Jennifer Peat, BSc(Hons) PhD, Senior ResearchOfficerMs Nicola Vukasin, RN CM, Research Assistant

Dermatology

HeadDr Maureen Rogers, MB BS FACD, ClinicalResearcher

Research Staff

Dr Gayle Fischer, BArch MB BS FACD, ClinicalResearcherDr Peter Hogan, BScMed MBBS FACD, ClinicalResearcher

EmergencyDirector

Dr Gary Browne, MBBS FRACP FACEM, ClinicalResearcher

Research Staff

Dr Amanda Jane Cocks, Clinical ResearcherDr Kathryn Currow, Clinical ResearcherDr Bruce Fasher, MBBS DRCOG DCH FRCP(L)FRACP, Clinical ResearcherDr Deidre Holley, Clinical ResearcherDr Hiroyuki Kato, Clinical ResearcherDr Mary McCaskill, MBBS BSc(Med) DipPaedsFACEM, Clinical ResearcherDr Sue Woolfenden, Clinical Researcher

Gene Therapy Research Unit(A partnership between The New Children’s

Hospital and Children’s Medical Research

Inistitute)

Joint Heads

Dr Ian Alexander, BMedSci MBBS PhD ClinicalGeneticist(HGSA) FRACP, Senior Research Fellow(New Children’s Hospital)Dr Jason Smythe, BSc(Hons) PhD, Senior ResearchFellow (CMRI)

Research Staff

Dr Robyn Biti, BSc(Hons) PhD, Research OfficerDr Jane Fleming, BSc(Hons) PhD, Senior ResearchOfficerDr Apru Khatri, BSc MSc PhD, Research OfficerMs Margot Latham, BSc, Research AdministratorMs Jacqueline Lees, BRSc(Hons), Research AssistantMr Grant Logan, BAppSc, Research AssistantDr Anna Skulimowski, BSc(Hons) PhD, Senior Research OfficerMs Christine Smyth, MSc, Research AssistantMs Anne Turnbull, BMedSci(Hons), ResearchAssistantMs Katherine Turner, BSc(Hons), Research AssistantMr Maolin Zheng, MSc, Research Assistant

Immunology and Infectious DiseasesHead

Dr Alyson Kakakios, MB BS(Hons) FRACP, ClinicalResearcher

Research Staff

Dr Miriam Codarini, MB BS, Clinical Research FellowMs Lou Gacis, BSc, Hospital ScientistMr Mark Hanlon, BSc MASM, Principal HospitalScientistProf David Isaacs, MBChir MD FRCPCH FRACP,Clinical ResearcherMr Jerome Jayasekera, BSc, Research AssistantDr Preeti Joshi, MB BS(Hons) DCH, ClinicalResearcherA/Prof Peter McIntyre, MBBS(Hons) FRACP FAF-PHM, Clinical ResearcherMs Reta Nambiar, DipMedLabPath, Hospital ScientistMs Arlene Shaw, RN, Research Officer


Intestinal Disease ResearchHead

Dr Edward O'Loughlin, MD FRACP, ClinicalResearcher

Research Staff

Mr Craig Koina, BSc, Research AssistantDr Zhe Li, PhD, Senior Research OfficerMs Vanessa Williams, BSc(Hons), Research Assistant

James Fairfax Institute of Paediatric

NutritionDirector

Prof Kevin Gaskin, MD FRACP FRCPc, ClinicalResearcher

Research Staff

Dr Jane Allen, MSc DipNutrDiet PhD, SeniorResearch OfficerMs Adeli Georga, RN BA, Research OfficerMs Margie Gruca, MSc GradDipClinBiochem,Principal Hospital ScientistMr Ian Humphries, BSc, Hospital ScientistDr Hossein Nouri-Sorkhabi, BSChem PhD, HospitalScientist

Management and Support Analysis UnitChair of Division of Information Services

Dr Ralph Hanson, BScMed MBBCH MPH MRACMAFRCAP FACEM

Acting Manager

Ms Christine Fan, BSc(Maths, Computing &Statistics)

National Centre for Immunisation

Research and Surveillance of Vaccine

Preventable Diseases (NCIRS) and the

New Children's Hospital's Centre for

Immunisation ResearchDirector

Prof Margaret Burgess, MD FRACP, ClinicalResearcher

Deputy Director

Clinical A/Prof Peter McIntyre, MBBS(Hons) FRACPFAFPHM, Clinical Researcher

Research Staff

Dr Helen Achat, ScD MSc BEd BA, Clinical ResearchFellow

Ms Janaki Amin, BSc, Research OfficerMs Sue Botham, BAppSc(Nursing) MPH, ResearchNurseMs Marysia Carr, Administrative AssistantMs Barbara Clifton-Smith, RN, Research NurseMs Jacinda Dawson, Administrative AssistantMs Annemarie Egan, RN, Research NurseDr Jill Forrest, MB BS MD, Clinical Research FellowDr Timothy Heath, MB BS MAEpi FAFPHM, ClinicalResearch FellowDr Chamari Kappagoda, MB BS, Clinical ResearchFellowMs Susan Lister, BSc MPH DipSocSt DipSocAdmin,Research OfficerDr Fiona Payne, MB BS, Clinical Research FellowMs Geraldine Smith, RN, Research NurseDr Fiona Turnbull, MB BS, Clinical Research Fellow

Neonatology and Grace Neonatal

NurseryHead

Dr Robert Halliday, MBBS BSc(Med) FRACP, ClinicalResearcher

Research Staff

Dr Nadia Badawi, MBBCh DCH MSc PhD MRCPIFRACP, Clinical ResearcherDr Peter Barr, OAM MBBS FRACP, ClinicalResearcherMs Di Campbell, GradDipChildHealthNursing, ClinicalResearcherMs Helen Hardy, BA DipOT, Clinical ResearcherMs Sharon Laing, BA(Hons), Research OfficerMs Kim Psaila, BA(N) PICCert GradDipNeonatal,Clinical ResearcherMs Julianne Schiefelbein, RN CM MAppSc MA(Ed)GradDipNNP, Clinical ResearcherMs Judith Smith, RN MidwiferyCert PICCert,Clinical ResearcherMs Kaye Spence, RN BEd(N) MN MCN(NSW), ClinicalResearcherDr Julian Wojtulewicz, MBBS FRACP, ClinicalResearcher

72


73


UnitHead

Dr Kathryn North, BSc(Med) MBBS(Hons) MDFRACP AAN HGSA, Clinical ResearcherResearch Staff

Ms Sarah Kim, BSc(Hons), Research AssistantMs Michelle Mills, BSc(Hons), Research AssistantMs Christina Schnell, BSc(Hons) MSc, ResearchOfficerDr Nan Yang, PhD, Senior Research Officer

Nursing Academic UnitHead

Prof Sue Nagy, BA(Hons) RN PhD FCN(NSW)FRCNA, Senior Research Officer

Research Staff

Dr Donna Gillies, BAppSc DipEd PhD, ResearchOfficerMs Chelsea Macfarlane, RN BScN, ResearchAssistantMs Fiona Maxton, RN RSCN MN, Research Officer

Occupational TherapyHead

Ms Alison Jones, DipOT

Research Staff

Ms Margaret Wallen, BAppSc(OT) MA, ClinicalResearcher

OncologyHead

Dr Michael Stevens, MBBS FRACP, ClinicalResearcher

Research Staff

Dr Anjali Alatkar, MBBS, Clinical ResearcherDr Frank Alvaro, MBBS FRACP, Clinical ResearcherMs Vicki Antonenas, BSc MSc(Med), ResearchOfficerDr Draga Barbaric, MBBS FRACP, ClinicalResearcherDr Mary Bergin, MBBS FRACP, Clinical ResearcherDr Luce DallaPozza, MBBS FRACP, ClinicalResearcherA/Prof Stewart Kellie, MBBS FRACP, ClinicalResearcherDr Emma McCahon, MBBS FRACP, ClinicalResearcher

Dr Geoff McCowage, MBBS FRACP, ClinicalResearcherMs Belinda Meares, RN, Clinical ResearcherDr Wendy Nightingale, MBBS MPH, ClinicalResearcherMs Lyra Pearson, MA MAPS, Clinical ResearcherMs Rhonda Rytmeister, BA(Hons), ClinicalResearcherDr Peter Shaw, MA MBBS MRCP FRACP, ClinicalResearcherDr Helen Sommerville, MBBS MPaed, ClinicalResearcherMs Nicole Stuart, BAppSc HIM, Clinical Researcher

Oncology Research UnitHead

Prof Peter Gunning, BSc(Hons) PhD, SeniorResearch Fellow

Associate Heads

Dr Jennifer Byrne, BSc(Hons) PhD, Research FellowDr Ron Weinberger, BSc(Hons) PhD, Research Fellow

Research Staff

Ms Nicole Bryce, BSc(Hons), Research AssistantMs Janett Clarkson, BAppSc MScSt, ResearchAdministratorMs Lucy Coupland, RN BSc(Hons), ResearchAssistantDr Cecile Dufour, BSc(Hons) PhD, Research OfficerMs Vicki Ferguson, BSc(Hons), Research AssistantMr Jeff Hook, BAppSc MSc, Research AssistantMs Belinda Kramer, BSc(Hons) MSc, ResearchAssistantMs Vanessa Nikolarakis, BSc(Hons), ResearchAssistantMr Justin Percival, BSc(Hons), Research AssistantDr Han Qin, BSc(Hons) PhD, Research OfficerDr Galina Schevzov, BSc(Hons) PhD, ResearchOfficerMs Sarah Wilson, BSc(Hons), Research Assistant

Orthopaedic SurgeryHead

Dr Ian Barrett, MBBS FRACS, Clinical Researcher

Research Staff

Dr Michael Bellemore, MBBS FRACS, ClinicalResearcherDr Mark Cornell, BM FRCS(Ortho), Clinical ResearchFellowDr David Little, MBBS FRACS, Clinical ResearcherMs Joan Tornquist, BSc MT(ASCP), ResearchAssistant

Paediatric Intensive Care UnitHead

Dr Jonathan Gillis, MB BS FRACP, ClinicalResearcher

Research Staff

Dr Robin Choong, MB BS FRACP, Clinical ResearcherDr Owen Miller, BMed FRACP, Clinical ResearcherMs Anne Morrison, RN PICCert BN, ClinicalResearcherDr Anthony O'Connell, MB BS FANZCA FFICANZCA,Clinical ResearcherDr Nicholas Pigott, MB BS MRCPI, ClinicalResearcherDr David Schell, MB BS FRACP, Clinical ResearcherDr Barry Wilkins, MA MD MRCP (UK) FRACP DCH,Clinical Researcher

PharmacyDirector

Ms Gwen Higgins, BPharm FSHP

PhysiotherapyActing Head

Ms Pam Hennessy, BAppSc MAPA, ClinicalResearcher

Psychological MedicineHead

Dr David Dossetor, MA MBB Chir DCH FRCP(UK)MRC Psych (UK) MD Cantab, Clinical Researcher

Research Staff

Ms Belinda Pratt, BSc(Hons) MPsychol(Clinical)MAPS, Clinical ResearcherDr Phil Renner, BA MPsych DIPED PhD, ClinicalResearcherDr Katrina Williams, MBBS MSc FRACP FAFPHM,Clinical Researcher

PsychologyHead

Ms Ingeborg Stiefel, RN(Germ) SozP GradDipPsychMClinPsych, Clinical Researcher

Research Staff

Ms Julie Hendy, BBSc(Hons) MSc, Senior ResearchOfficerMs Susan Johnson, BSc(Hons) MClinPsych, ClinicalResearcherMs Pam Joy, BA MA MSc MAPsS, ClinicalResearcherMs Corinne Roberts, BA(Hons) MA, Research Officer

Ray Williams Institute of Paediatric

Endocrinology, Diabetes and MetabolismDirector

Prof Martin Silink, MD, Clinical Researcher

Research Staff

Dr Geoff Ambler, MD FRACP, Clinical ResearcherDr Barbara Blades, BSc(Hons) PhD, PrincipalHospital ScientistMs Darna Bradford, BSc, Hospital ScientistMr Albert Chan, MSc(ApplStats), Research OfficerDr Amabel Clavano, MB BS, Clinical ResearcherDr Chris Cowell, MB BS FRACP FRCPC, ClinicalResearcherDr Maria Craig, MB BS, Clinical Research FellowMs Mandy Crocker, RN, Research AssistantMs Janine Cusumano, RN, Research AssistantMs Lucy Cutler, BSc(Psych)(Hons), ResearchAssistantDr Kim Donaghue, MB BS FRACP, ClinicalResearcherDr Janice Fairchild, MB BS FRACP, Clinical ResearchFellowMs Sarah Garnett, BSc MNutrDiet, Research OfficerDr Neville Howard, MB BS FRACP FRCPC, ClinicalResearcherDr George Joannou, PhD, Principal Hospital ScientistDr Yan-Lin Kao, MB MM, Clinical Research FellowMs Rosetta Laina, MSc BSc, Research OfficerMs Jenny Lee, BAppSc, Hospital ScientistMs Bin Moore, RN, Research AssistantDr Vida Petrukas, MB BS, Research AssistantMr Chang Tao, DipPrevMed MScMed, HospitalScientistMs Mei Wang, MApplStats, Research Assistant


74


75

RehabilitationHeadDr Stephen O'Flaherty, MBCh FRACP FAFRM,Clinical Researcher

Research StaffMs Kath Bakker, BA MSc, Clinical ResearcherMs Ruth Brunsdon, BA(Hons) MSc MAPS, ClinicalResearcherMs Helen Dawson, BSW, Research OfficerMr Tim Hannan, BA(Hons) MPsych MSc(ClinNeuropsych) MCogSc, Clinical ResearcherDr Adam Scheinberg, MB BS DCh, ClinicalResearcherMs Martine Simons, BSW(Hons) MEd, ClinicalResearcherDr Mary-Clare Waugh, MB BS MRCPCH FRACP, ClinicalResearcher

Social WorkHeadMs Catherine Doggett, BSW, Clinical Researcher

Research StaffMs Jennifer McManus, BSW, Research Assistant

Speech PathologyHeadMs Jeanette Cowell, MA(Linguistics) LCST, ClinicalResearcher

Research StaffMr David Fitzsimons, BAppSc(SpPath), ClinicalResearcher

Surgical ResearchHeadProf Danny Cass, MBBS B(Med)Sc PhD FRCSFRACS, Clinical Researcher

Research StaffMr Lawrence Lam, BSc(Hons) MAppPsy MPH,Scientific Research FellowMs Manglick Patricia, MSc GradDipClinBiochem,Hospital ScientistMr Frank Ross, BAAppSc MPH, Clinical ResearcherDr Gouchen Yang, PhD, Senior Research Officer

T.Y. Nelson Department of Neurology

and NeurosurgeryHeadDr Jayne Antony, MD PED FRACP

Research StaffDr Andrew Bleasel, B(Med)Sc MBBS PhD FRACP,Clinical ResearcherDr Laurel Bornholt, BA(Hons) PhD, Research OfficerMs Heidi Lyneham, BA(Hons), Research AssistantMs Laraine McAnaly, RN CNS, Clinical ResearcherProf Robert Ouvrier, MBBS BSc(Med) FRACP,Clinical ResearcherDr Daniel Schultze, MD, Clinical Research Fellow

The Institute of Pathology (Departments

of Biochemistry, Blood Bank,

Haematology, Histopathology,

Microbiology, Virology)Co-ordinatorDr John Earl, BSc PhD MRACI, Principal HospitalScientist

Research StaffDr Susan Arbuckle, MBBS FRCPA, ClinicalResearcherMs Patricia Beal, MSc, Senior Hospital ScientistDr John Coakley, MD BS FRACP FRCPA MAACB,Clinical ResearcherDr Claire Cooke-Yarborough, MBBS FRCPA, ClinicalResearcherDr Alison Kesson, MBBS PhD FRACP FRCPA,Clinical ResearcherDr Alex Khan, MBBS FRCPA, Clinical ResearcherDr Ahti Lammi, MBBS FRACP FRCPA, ClinicalResearcherMr William Leach, MSc, Hospital ScientistMs Christine Manning, Dip AIMLS, Hospital ScientistDr Michael Watson, MBBS FRACP FRCPA DTM&H,Clinical ResearcherDr Boyd Webster, MB ChB DCP FRCPA, ClinicalResearcherMs Fay Wood, BSc (Hons), Senior Hospital Scientist


76

University Department of Paediatrics

and Child Health

Please refer to APSU, Clinical Epidemiology, IntestinalDisease Research and Neurogenetics Research Unit forother staff.

DirectorProf Craig Mellis, MBBS MD MPH FRACP, SeniorPrincipal Research Fellow

Research StaffA/Prof Louise Baur, BSc(Med) MBBS PhD FRACP,Senior Research FellowMs Janice O'Connor, BSc(Hons) DipEd MNutrDiet,Scientific Research FellowMs Jacqueline Payne, BSc(Hons), Research AssistantProf Kim Oates, MD MHP FRACMA FRCP FRACPFAFPHM DCH, Senior Research FellowMs Heather Swanston, BSc(Hons), Research Officer

Australian Paediatric Surveillance Unit

(APSU)

The APSU facilitates collaborative research throughactive monthly national surveillance of selected dis-eases in childhood. This is achieved through participa-tion of all Australian specialists in child health and thesupport of the Financial Markets Foundation forChildren, Australian College of Paediatrics, Universityof Sydney, New Children’s Hospital andCommonwealth Department of Health and FamilyServices. An annual report detailing findings derivedfrom the unit is available on request.

DirectorA/Prof Elizabeth Elliott, MD FRACP FRCP FRCPCH,Senior Principal Research Fellow

Deputy DirectorDr Katrina Williams, MBBS MSc FRACP FAFPHM,Senior Research Fellow

Research StaffMs Jennifer Fowler, Research AssistantMs Diane Redmond, BSc, Research AssistantMs Gabrielle Williams, BA, Research Assistant

UrologyHeadDr Grahame Smith, MBBS(Hons) FRACS, ClinicalResearcher

Research StaffDr Ralph Cohen, BMedSci MBBS MS FRACS, ClinicalResearcherMs Irene Tsang, RN, Clinical Researcher

Western Sydney Genetics ProgramDirectorA/Prof John Christodoulou, MB BS(Hons) PhDFRACP CGHGSA, Clinical Researcher

Academic Unit In Medical GeneticsHeadProf David Sillence, MD MB BS FRACP FRCPA, ClinicalResearcher

Research StaffMs Julie Briody, MBioMedEng BSc, Hospital ScientistDr Mary-Louise Freckmann, MBBS FRACP, ClinicalResearch FellowMs Jill Hall, RN, Research Nurse

Biochemical Genetics And Newborn

ScreeningDirector

Dr Bridget Wilcken, MB ChB FRACP CGHGSA,Clinical Researcher

Research StaffDr Kevin Carpenter, PhD, Hospital ScientistDr Judith Hammond, PhD, Principal HospitalScientistMs Keow Giak Sim, BSc, Hospital ScientistMs Ruth Urwin, MAppSc, Hospital ScientistDr Veronica Wiley, PhD, Principal Hospital Scientist

Clinical GeneticsHeadDr Meredith Wilson, MBBS FRACP HGSACG, ClinicalResearcher

Research StaffMs Fiona Richards, BSc, ClinicalResearcherDr Rani Sachdev, MBBS FRACP, Clinical ResearchFellow


77

CytogeneticsHeadDr Lesley Bousfield, PhD HGSACC, PrincipalHospital Scientist

Associate HeadsDr Art Daniel, PhD HGSACC DipABMG CFACMG,Principal Hospital ScientistDr Arabella Smith, MBBS HGSACC DipRCP FRCPA,Clinical Researcher

Research StaffMs Nicole Chia, BSc, Hospital ScientistMr Paul Malafiej, BSc, Hospital ScientistMs Lisa Robson, BSc, Hospital ScientistDr Zhan He Wu, MD PhD, Hospital Scientist

Marfan Research GroupDirectorDr Lesley Adés, MBBS FRACP MD CG HGSA,Clinical Researcher

Research StaffMs Katherine Holman, BAppSc, Research Assistant

Metabolic Diseases Research LaboratoryHeadA/Prof John Christodoulou, MB BS(Hons) PhDFRACP CGHGSA, Clinical Researcher

Research StaffDr Leon McQuade, BA MSc PhD, Research OfficerMs Melanie Murrell, BSc, Research Assistant

Molecular GeneticsHeadDr Bruce Bennetts, BSc(Hons)PhD, Senior Research Fellow

studentsRESEARCH REPORT 1999

78

Student Current Degree for which University/Institution Department

Qualification they are enrolled where enrolled

Ban Altoumah BSc(Hons) MClinChem University of Technology, Sydney EndocrinologyJanaki Amin BSc MPH University of Sydney NCIRSJohn Arnold MBBS PhD University of Sydney EndocrinologyNerilee Baker RN BN Masters by Research University of Technology, Sydney Nursing Academic UnitBelinda Barton BA(Hons) MScMed University of Sydney CHERIFiona Black BA GradDipAppl MEd University of Sydney Neurology and Neurosurgery

Psych GradDipEdNadiene Brotherton RN BN Honours University of Western Sydney, Nepean Nursing Academic UnitJulianne Brown BSc MPH MAppEpi Australian National University NCIRSMarc Buhler BSc MSc PhD University of Sydney Molecular GeneticsMei Yuk Chan BSc Honours Macquarie University Metabolic Diseases Research

LaboratoryPaul Chee MBBS MM University of Sydney Molecular GeneticsKit Chee MBBS(Hons) FRACP MD University of Sydney Paediatrics and Child HealthSara Cooper RN MSc University of Sydney Children's Chest Research

CentreMaria Craig MBBS PhD University of Sydney EndocrinologyDavid Croaker MBBS FRACS PhD University of Sydney Surgical ResearchJulie Dean MBBS(Hons) FRACP PhD University of Sydney Gene Therapy Research UnitJun Diao MSc PhD University of Sydney Gene Therapy Research UnitLeonora Dias BSc PhD University of NSW Paediatric Intensive Care UnitNatalie Dominish RN BN Honours University of Western Sydney, Nepean Nursing Academic UnitKim Donaghue MBBS FRACP PhD University of Sydney EndocrinologyAnnaliese Dowling BSc Honours University of Wollongong Paediatrics and Child HealthMargaret Dowrick CertTeach DipTeach EdD University of Western Sydney, Nepean CHERI

BEd MSpEDAnthony Duffin BSc(Hons) PhD University of Western Sydney, Nepean EndocrinologyCraig Duncan BSc PhD University of Sydney CHISM Shoma Dutt MBBS FRACP PhD University of Sydney James Fairfax Institute of

Paediatric NutritionCarolyn Ellaway MBBS FRACP PhD University of Sydney Metabolic Diseases Research

LaboratoryJonathan Gillis MBBS FRACP PhD University of NSW Paediatric Intensive Care UnitLinette Gomes MBBS DipRACOG PhD University of Sydney CHERITerry Grissell BSc(Hons) PhD University of Newcastle PathologyJanet Grumley RN BN Honours University of Western Sydney, Nepean Nursing Academic UnitMark Hanlon BSc MASM MScMed University of Sydney Immunology and Infectious

DiseasesIan Humphries BSc PhD University of Sydney James Fairfax Institute of

Paediatric NutritionShelley Hyman BSc(Hons) PhD University of Sydney Neurogenetics Research UnitCheryl Jones MBBS PhD University of Sydney NCIRSKristi Jones MBBS PhD University of Sydney Neurogenetics Research UnitPreeti Joshi MBBS(Hons) DCH PhD University of Sydney Immunology and Infectious

DiseasesTina Kendrick RN BN MN Honours University of Western Sydney, Nepean Nursing Academic UnitNatalya Knezevic MNutrDiet University of Sydney Paediatrics and Child HealthGrant Logan BAppSci MSc University of Sydney Gene Therapy Research UnitBruce Lord BSW(Hons) MSW PhD Macquarie University Social WorkChelsea Macfarlane RN BScN PhD University of Western Sydney, Nepean Nursing Academic UnitFrouz Mahjoubi MSc PhD Macquarie University CytogeneticsDamian Marsh BSc Honours Australian Catholic University CHISMJohn Massie MBBS FRACP PhD University of Sydney James Fairfax Institute of

Paediatric NutritionDavid Mather RN BN Honours University of Western Sydney, Nepean Nursing Academic UnitFiona Mather BA MA MPsychol University of Sydney RehabilitationMiriam Meischke BSc(Nutr) MPH University of Sydney EndocrinologySeema Mihrshahi BSc(Hons) MPH University of Sydney Clinical Epidemiology Unit

studentsRESEARCH REPORT 1999

79

Student Current Degree for which University/Institution Department

Qualification they are enrolled where enrolled

Jim Minchenko BSc(Hons) MSM University of Sydney Metabolic Diseases Research Laboratory

Elsie Mobbs BSc DipEd MStud PhD University of Sydney EndocrinologyPsychol MA

Christa Nath BSc(Hons) PhD University of Sydney PathologyCraig Nourse BSc(Hons) PhD University of Sydney Oncology Research UnitJill Orford MBBS FRACS PhD University of Sydney Surgical ResearchElizabeth O'Riordan RN RSCN MN PhD University of Western Sydney, Nepean Nursing Academic UnitFiona Payne MBBS MPH University of Sydney NCIRSJustin Percival BSc(Hons) PhD University of Sydney Oncology Research UnitLalitha Rajapakse MD PhD University of New South Wales CHISM Nadine Reynolds BSc MPsychol University of Sydney RehabilitationLesley Russell BA(Hons) MSc Macquarie University Neurology and NeurosurgeryHiran Selvadurai MBBS PhD University of Sydney Children's Chest Research

CentreKaren Setterfield BSc MSc Macquarie University Metabolic Diseases Research

LaboratoryMeredith Sheil MBBS FRACP PhD University of Sydney Adolph Basser Cardiac

InstituteShiona Shiu DipTeach EdD University of Western Sydney, Nepean CHERI

GradDipSpEd MAAnish Singh MSc MBChB PhD University of Sydney Oncology Research Unit

MD FRACP Christine Smyth MSc PhD Macquarie University Gene Therapy Research UnitCheryl Soo BSc(Hons) PhD University of Western Sydney, Nepean CHERIHeather Swanston BSc(Hons) PhD University of Sydney Paediatrics and Child HealthChang Tao DipPrevMed PhD University of Sydney Endocrinology

MScMedFiona Thomas BSc MSc University of Sydney CHISM Paul Thomas MBBS MPH University of Sydney NCIRSGail Tomsic RN BN MN Masters by Research University of Western Sydney, Nepean Nursing Academic UnitSiranda Torvaldsen BAppSc MAE RN PhD University of Sydney NCIRSToby Trahair BSc(Med)(Hons) PhD University of Sydney Gene Therapy Research Unit

MBBS(Hons)Fiona Turnbull MBBS MPH University of Sydney NCIRSRuth Urwin MClinChem PhD University of Sydney Clinical GeneticsYvette Vajter RN BN Honours University of Western Sydney, Nepean Nursing Academic UnitPeter Wiebe BSc MA PhD Australian Catholic University CHISMFiona Wilkinson BA MPsychol University of Sydney RehabilitationAndrew Williams BSc(Hons) MAACB PhD University of Sydney Metabolic Diseases Research

LaboratoryMelanie Wong MBBS FRACP PhD University of Sydney NCIRS/Immunology and

Infectious DiseasesHelen Woodhead MBBS FRACP PhD University of Sydney CHISM Huiling Wu MD PhD University of Sydney Centre for Kidney ResearchLian Yong RN BN Masters by Research University of Western Sydney, Nepean Nursing Academic UnitAn Ling Zhang MBBS MM PhD University of Sydney Surgical Research


80

funding

Name - Jeda. Age 8.

“When I grow up I want to be a nurse. I will take

people’s temperature and look after them in hospital”

Name - Jessica. Age 8.

“I want to be a doctor when I’m older. I will operate

on people to make them better”

fundingRESEARCH REPORT 1999

Department Total Funding Source Peer Reviewed Peer Reviewed Industry Other Public

Grant External Internal Partner- Sector

Income Research Research ships Research

Grants Grants Funding

Australian Paediatric $75,500 - Financial Markets $67,500Surveillance Unit Foundation for Children

- National Centre for Disease Control $8,000(Commonwealth Department of Health and Aged Care)

Centre for Kidney $235,531 - NH&MRC $189,331Research - CHF Annual Grants Scheme $46,200

Child Protection Unit $2,870 - CHF Small Grants Scheme $2,870

CHERI $47,250 - CHF Annual Grants Scheme $47,250

Children's Chest $127,565 - Australian Lung Foundation $40,000Research Centre (Career Development Award)

- Australian Lung Foundation $3,000(Ludwig Engel Grant-in-aid)

- Financial Markets Foundation $30,500for Children

- NH&MRC $45,565- CHF Small Grants Scheme $8,500

CHISM $29,660 - Australian Cystic Fibrosis Research $2,330Trust

- Australian Research Council Small $15,000Grants Scheme

- Clive and Vera Ramaciotti $10,000Foundations

- CHF Small Grants Scheme $2,330

Clinical Epidemiology $216,444 - NH&MRC (PHRDC) $216,444Unit

Gene Therapy Research $162,857 - NH&MRC $102,857Unit - Theresa Byrnes Foundation Inc $60,000

Immunology and $50,000 - Asthma Foundation of NSW $50,000Infectious Diseases

Intestinal Disease $50,000 - NH&MRC $50,000Research

81


82

Department Total Funding source Peer Reviewed Peer Reviewed Industry Other Public Grant External Internal Partner- SectorIncome Research Research ships Research


NCIRS $1,010,000 - Pharmaceutical Industry $310,000- Commonwealth Department of $600,000

Health- NSW Health Research and $100,000

Development Infrastructure Grants Program

Neonatology and $125,904 - NH&MRC $124,000Grace Neonatal Nursery - Mead Johnson $1,904

Neurogenetics $147,496 - Brain Foundation $10,000Research Unit - Clive and Vera Ramaciotti $15,000

Foundations- Muscular Dystrophy Association $14,200- University of Sydney Research $8,000

Grants Scheme- CHF Annual Grants Scheme $82,696- St George Foundation $17,600

Oncology $11,200 - SmithKline Beecham $11,200

Oncology Research Unit $396,867 - Clive and Vera Ramaciotti $20,000Foundations

- Kathleen Cuningham Foundation $40,000for Breast Cancer Research

- NH&MRC $287,120- CHF Annual Grants Scheme $49,747

Orthopaedic Surgery $32,816 - Australian Orthopaedic Association $10,000Research Foundation Grant

- CHF Annual Grants Schemes $15,216- CHF Small Grants Schemes $7,600

Paediatric Intensive $6,000 - CHF Small Grants Scheme $6,000Care Unit

Psychological Medicine $40,886 - CHF Annual Grants Scheme $36,886- NSW State Government $4,000


83

Department Total Funding Source Peer Reviewed Peer Reviewed Industry Other Public

Grant External Internal Partner- Sector

Income Research Research ships Research


Psychology $34,213 - Motor Accidents Authority $34,213

Ray Williams Institute $325,000 - Diabetes Australia Research Trust $42,000of Paediatric - CHF Annual Grants Scheme $83,000Endocrinology, Diabetes - Pharmaceutical Industry Grant $60,000and Metabolism - Pharmacia and Upjohn $50,000

- Wyeth $90,000

Rehabilitation $9,240 - Motor Accidents Authority $9,240

Surgical Research $160,000 - CHF Small Grants Scheme $16,000- Centre for Mental Health $144,000

(Department of Health)

Neurology and $76,542 - NH&MRC $54,542Neurosurgery - Australian Brain Foundation $12,000

- Sydney Children's Hospital $10,000Foundation

Institute of $60,000 - NH&MRC $55,000Pathology - World Health Organisation $5,000

Paediatrics and $109,670 - Australian Rotary Health $22,000Child Health Research Fund

- NH&MRC $87,670

Urology $26,600 - CHF Annual Grants Scheme $26,600

Western Sydney $231,148 - Apex Foundation $25,000Genetics Program - NH&MRC $49,148

- Multiple Sclerosis $47,000- University of Sydney Faculty of $11,000

Medicine Vallack Bequest- University of Sydney Faculty of $25,000

Medicine Bridging Grants Scheme- CHF Small Grants Scheme $22,000- ConnecTeD $12,000- Genzyme $5,000- Novartis Pharmaceuticals $20,000- OI Society of Australia and Bankers' $15,000

Trust

Total $3,801,259 $1,791,207 $452,895 $560,104 $997,053


84

1998 Funding (as a percentage of total)

Comparison of Funding 1995-1998

Comparison of Funding 1995-1998

Funding source Total 1995 Total 1996 Total 1997 Total 1998

External Peer Reviewed Research Grants (non-NM&MRC) $419,949 $691,025 $471,925 $529,530

NH&MRC $455,841 $674,789 $1,025,860 $1,261,677

Industry Partnerships $703,630 $523,000 $473,035 $560,104

Internal Peer Reviewed Research Grants $478,504 $370,472 $487,488 $452,895

Other Public Sector Research Funding $295,882 $457,783 $1,250,479 $997,053

Donations* $1,138,306

Total $2,353,806 $2,717,069 $3,708,787 $4,939,565

*reported for the first time in 1998

85

publicationsRESEARCH REPORT 1999

Name - Vonniel. Age 5.

“When I’m older, I want to work in the city so I can

carry a briefcase and read my paper on the bus”

Name - Christine. Age 11.

“I like playing games on my computer, so when I grow

up I want to make computer games”


86

Original Articles in Peer

Reviewed Journals

Allen, J.R., Humphries, I.R.J., Mc Cauley, J.C.,Waters, D.L., Allen, B.J., Baur, L.A., Roberts,D.C.K., & Gaskin, K.J. (1998). Assessment ofbody composition of children with cystic fibro-sis. Applied Radiation and Isotopes, 49, 591-592.

Amin, J., Hueston, L., Dwyer, D.E., & Capon, A.(1998). Ross River virus infection in the north-west outskirts of the Sydney basin.Communicable Diseases Intelligence, 22, 101-102.

Andronicus, M., Oates, R.K., Peat, J., Spalding,S., & Martin, H. (1998). Non-accidental burnsin children. Burns, 24, 552-558.

Arnold, J.D., Bonacruz, G., Leslie, G.I.,Veldhuis, J.D., Milmlow, D., & Silink, M.(1998). Antenatal glucocorticoids modulatethe amplitude of pulsatile cortisol secretion inpremature neonates. Paediatric Research, 44,876-881.

Badawi, N., Watson, L., Petterson, B., Blair, E.,Slee, J., Haan, E., & Stanley, F.J. (1998). Whatconstitutes cerebral palsy? DevelopmentalMedicine and Child Neurology, 40, 520-527.

Badawi, N., Kurinczuk, J.J., Keogh, J.M.,Alessandri, L.M., Burton, P.R., O'Sullivan, F.,Pemberton, P.J., & Stanley, F.J. (1998).Intrapartum antecedents of newbornencephalopathy: the Western Australian casecontrol study. British Medical Journal, 317,1554-1558.

Badawi, N., Kurinczuk, J.J., Keogh, J.M.,Alessandri, L.M., O'Sullivan, F., Burton, P.R.,Pemberton, P.J., & Stanley, F.J. (1998).Antepartum risk factors for newbornencephalopathy: the Western Australian case-control study. British Medical Journal, 317,1549-1553.

Bai, J., Peat, J.K., Berry, G., Marks, G.B., &Woolcock, A.J. (1998). Questionnaire itemsthat predict asthma and other respiratory con-ditions in adults. Chest, 114, 1343-1348.

Bailey, J.G., & du Plessis, D.A. (1998). Aninvestigation of school principals' attitudestoward inclusion. Australasian Journal ofSpecial Education, 22, 12-26.

Bailey, J.G., & Ellerman-Bull, K. (1998).Conflict resolution preferences and casualattributions of young male offenders. YouthStudies, 17, 42-50.

Baldwin, I., Beckman, U., Shaw, L., &Morrison, A. (1998). Australian IncidentMonitoring Study in intensive care: local unitreview meetings and report management.Anaesthesia & Intensive Care, 26, 294-297.

Barr, P., & Courtman, S.P. (1998).Cardiopulmonary resuscitation in the newbornintensive care unit. Journal of Paediatrics andChild Health, 34, 503-507.

Barrett, I., Bellemore, M., & Won, Y.-M.(1998). Cosmetic results of supracondylarosteotomy for correction of cubitus varus.Journal of Pediatric Orthopaedics, 18, 445-447.

Baur, L.A., O'Connor, J., & Storlien, L.H.(1998). Fat, fat subtypes and insulin action.Proceedings of the Nutrition Society of Australia,22, 151-157.

Baur, L.A., O'Connor, J., Pan, D.A., Kriketos,A.D., & Storlien, L.H. (1998). The fatty acidcomposition of skeletal muscle membranephospholipid: its relationship with type of feed-ing and plasma glucose levels in young chil-dren. Metabolism, 47, 106-112.

Baur, L.A., O'Connor, J., Pan, D.A., & Storlien,L.H. (1999). Relationships between maternalrisk of insulin resistance and the child's mus-cle membrane fatty acid composition. Diabetes,48, 112-116.

Beckmann, U., Baldwin, I., Durie, M.,Morrison, A., & Shaw, L. (1998). Problemsassociated with nursing staff shortage: ananalysis of the first 3600 incident reports sub-mitted to the Australian Incident MonitoringStudy (AIMS-ICU). Anaesthesia & IntensiveCare, 26, 396-400.

Bernard, E.J., Nicholls, W.D., Howman-Giles,R.B., Kellie, S.J., & Uren, R.F. (1998).Patterns of abnormality on bone scans in acutechildhood leukemia. Journal of NuclearMedicine, 39, 1983-1986.

Birman, C., & Beckenham, E. (1998).Acquired trachco-esophageal fistula in thepediatric population. International Journal ofPediatric Otorhinolaryngology, 44, 109-113.

Botham, S.J., Isaacs, D., & Burgess, M.A.(1998). Immunisation of preterm infants.Communicable Disease Intelligence, 22, 218-220.

Buchholz, T., Jackson, J., Robson, L., & Smith,A. (1998). Evaluation of methylation analysisfor diagnostic testing in 258 referrals suspect-ed of Prader-Willi or Angelman syndromes.Human Genetics, 103, 535-539.

Buiting, K., Dittrich, B., Gross, S., Lich, C.,Farber, C., Buchholz, T., Smith, A., Reis, A.,Burger, J., Nothen, M.M., Barth-Witte, U.,Janssen, B., Abeliovich, Lerer, I., van denOuweland, A.M., Halley, D.J., Schrander-Stumpel, C., Smeets, H., Meinecke, P.,Malcolm, S., Gardner, A., Lalande, M., Nicholls,R.D., Friend, K., & Horsthemke, B. (1998).Sporadic imprinting defects in Prader-Willi syn-drome and Angelman syndrome: implicationsfor imprint-switch models, genetic counselling,and prenatal diagnosis. American Journal ofHuman Genetics, 63, 170-180.

Burgess, M.A., McIntyre, P.B., & Heath, T.C.(1998). Pertussis re-emerging: who is respon-sible? Australian and New Zealand Journal ofPublic Health, 22, 9-10.

Burgess, M.A. (1998). What's new in childhoodimmunisation in 1998? Modern Medicine, 41, 26-34.

Burgess, M.A., Heath, T.C., & McIntyre, P.B.(1998). The Measles Control Campaign andimmunisation adverse events. CommunicableDiseases Intelligence, 22, 136-138.

Burgess, M.A., McIntyre, P.B., & Heath, T.C.(1998). Rethinking contraindications to vacci-nation. Medical Journal of Australia, 168, 476-477.

Burgner, D., Eagles, G., Burgess, M., Procopis,P., Rogers, M., Muir, D., Pritchard, R.,Hocking, A., & Priest, M. (1998).Disseminated invasive infection due toMetarrhizium anisopliae in an immunocompro-mised child. Journal of Clinical Microbiology,36, 1146-1150.

Byrne, J.A., Nourse, C.R., Basset, P., &Gunning, P. (1998). Identification of homo- andheteromeric interactions between members ofthe breast carcinoma-associated D52 proteinfamily using the yeast two-hybrid system.Oncogene, 16, 873-881.

Byrne, J.A., Mattei, M.G., Basset, P., &Gunning, P. (1998). Identification and in situhybridization mapping of a mouse Tpd52l1(D53) orthologue to chromosome 10A4-B2.Cytogenetics & Cell Genetics, 81, 199-201.

Chan, D., Weng, Y.M., Graham, H.K., Sillence,D.O., & Bateman, J.F. (1998). A nonsensemutation in the carboxyl-terminal domain oftype X collagen causes haploinsufficiency inschmid metaphyseal chondrodysplasia. Journalof Clinical Investigation, 101, 1490-1499.

Chang, T., Yu, T., Garnett, S., Briody, J., Knight,J., Woodhead, H., & Cowell, C. (1998). VitaminD receptor alleles predict growth and bone den-sity in girls. Archives of Diseases in Children,79, 488-495.

Chant, K.G., Sullivan, E.A., Burgess, M.A.,Ferson, M.J., Forrest, J.M., Baird, L.M.,Tudehope, D.I., & Tilse, M. (1998). Varicella-zoster virus infection in Australia. Australianand New Zealand Journal of Public Health, 22,413-418.

Christodoulou, J., Danks, D.M., Sarkar, B.,Baerlocher, K.E., Casey, R., Horn, N., Tumer, Z.,& Clarke, J.T. (1998). Early treatment ofMenkes disease with parenteral copper-histi-dine: long-term follow-up of four treatedpatients. American Journal of Medical Genetics,76, 154-164.

Cocks, A.J., O'Connell, A., & Martin, H. (1998).Crystalloids, colloids and kids: a review of pae-diatric burns in intensive care. Burns, 24, 717-724.

Collins, C.E., O'Loughlin, E.V., & Henry, R.L.(1998). Discrepancies between males andfemales with cystic fibrosis in dietary intakeand pancreatic enzyme use. Journal of PediatricGastroenterology and Nutrition, 258-262.


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Collins, J.J., Stevens, M.M., & Cousens, P. (1998).Home care for the dying child. A parent's percep-tion. Australian Family Physician, 27, 610-614.

Collod-Beroud, G., Beroud, C., Adés, L.C.,Black, C., Boxer, M., Brock, D.J.H., Holman,K.J., de Paepe, A., Francke, U., Grau, U.,Hayward, C., Klein, H.-G., Liu, W., Nuytinck, L.,Peltonen, L., Perez, A.B.A., Rantamaki, T.,Junien, C., & Boileau, C. (1998). Marfan data-base (third edition): New mutations and newroutines for the software. Nucleic AcidsResearch, 26, 229-233.

Craig, J.C., Irwig, L.M., Knight, J.F.,Sureshkumar, P., & Roy, L.P. (1998).Symptomatic urinary tract infection in pre-school Australian children. Journal ofPaediatrics & Child Health, 34, 154-159.

Craig, J.C., Irwig, L.M., Howman-Giles, R.B.,Uren, R.F., Bernard, E.J., Knight, J.F.,Sureshkumar, P., & Roy, L.P. (1998).Variability in the interpretation of dimercapto-succinic acid scintigraphy after urinary tractinfection in children. Journal of NuclearMedicine, 39, 1428-1432.

Cree, A., Coolican, M., & Tonkin, M. (1998).Prevention of common peroneal nerve palsyafter surgery for valgus deformity about theknee. The Knee, 5, 261-265.

Croaker, G.D., Shi, E., Simpson, E., Cartmill, T.,& Cass, D. (1998). Congenital centralhypoventilation syndrome and Hirschsprung'sdisease. Archives of Disease in Childhood, 78,316-322.

Crock, P.A., McKenzie, J.D., Nicoll, A.M.,Howard, N.J., Cutfield, W., Shield, L.K., &Byrne, G. (1998). Benign intracranial hyper-tension and recombinant growth hormone ther-apy in Australia and New Zealand. ActaPaediatrica, 87, 381-386.

Daley A.J., Isaacs, D., Dwyer, D.E., & Gilbert,G.L. (1998). A cluster of cases of neonatalCoxsackievirus B meningitis and myocarditis.Journal of Pediatrics and Child Health, 34, 196-198.

Daniel, A., Ng, A., Kuah, K.B., Reiha, S., &Malafiej, P. (1998). A study of early amniocen-tesis for prenatal cytogenetic diagnosis.Prenatal Diagnosis, 18, 21-28.

Davies, B., Deveau, E., deVeber, B., Howell, D.,Martinson, I., Papadatou, D., Pask, E., &Stevens, M. (1998). Experiences of mothers infive countries whose child died of cancer.Cancer Nursing, 21, 301-311.

Davies, D., & Rogers, M. (1998).Haemangiomas: when to treat. ModernMedicine of Australia, 41, 98-101.

Dias, L.S., Schell, D.N., & Burcher, E. (1998).Effect of post-mortem delay on density oftachykinin receptors in rat peripheral tissues.Peptides, 19, 1359-1364.

Donaghue, K.C., Robinson, J., McCredie, R.,Fung, A., Silink, M., & Celermajer, D.S. (1998).Macroangiopathy--does it play a role in youngpeople? Hormone Research, 50 Suppl 1, 38-40.

Dossetor, D., Stiefel, I., & Gomes, L. (1998). Acase of predominantly nocturnal siling treatedwith amitriptyline. European Journal of Child &Adolescent Psychiatry, 7, 114-118.

Dudding, T.E., Rogers, M., Roddick, L.G.,Relic, J., & Edwards, M.J. (1998). Nevoidhypertrichosis with multiple patches of hairthat underwent almost total resolution.American Journal of Medical Genetics, 79, 195-196.

Dufour, C., Weinberger, R.P., Schevzov, G.,Jeffrey, P.L., & Gunning, P. (1998). Splicing oftwo internal and four carboxyl-terminal alter-native exons in nonmuscle tropomyosin 5 pre-mRNA is independently regulated during devel-opment. Journal of Biological Chemistry, 273,18547-18555.

Dufour, C., Weinberger, R.P., & Gunning, P.(1998). Tropomyosin isoform diversity andneuronal morphogenesis. Immunology and CellBiology, 76, 424-429.

Ellaway, C., North, K., Arbuckle, S., &Christodoulou, J. (1998). Complex I deficiencyin association with structural abnormalities ofthe diaphragm and brain. Journal of InheritedMetabolic Diseases, 21, 72-73.

Ellaway, C., Buchholz, T., Smith, A., Leonard,H., & Christodoulou, J. (1998). Rett syndrome:significant clinical overlap with Angelman syn-drome but not with methylation status. Journalof Child Neurology , 13, 448-451.

Ellaway, C., Christodoulou, J., Kamath, R.,Carpenter, K., & Wilcken, B. (1998). The asso-ciation of protein-losing enteropathy withcobalamin C defect. Journal of InheritedMetabolic Disease, 21, 17-22.

Fear, W.R., Kesson, A.M., Lynch, G.W., Naif, H.,& Cunningham, A.L. (1998). HIV-1 differentialtropism and chemokine receptor expression inneonatal monocytes, monocyte derivedmacrophages, and placental macrophages.Journal of Virology, 72, 1334-1344.

Fitzgerald, D., Van Asperen, P.P., O'Leary, P.,Feddema, P., Leslie, G., Arnold, J., & Sullivan,C. (1998). Sleep, respiratory rate and growthhormone in chronic neonatal lung disease.Pediatric Pulmonology, 26, 241-249.

Fitzgerald, D., Van Asperen, P., Mellis, C.,Honner, M., Smith, L., & Ambler, G. (1998).Fluticasone propionate 750 micrograms/dayversus beclomethasone dipropionate 1500micrograms/day: comparison of efficacy andadrenal function in paediatric asthma. Thorax,53, 656-661.

Fitzgerald, D., Van Asperen, P.P., Leslie, G.,Arnold, J., & Sullivan CS. (1998). Higher SaO2in chronic neonatal lung disease: does itimprove sleep? Pediatric Pulmonology, 26,241-249.

Fitzgerald, D., Willis, D., Usher, R.,Outerbridge, E., & Davis, G.M. (1998).Dexamethasone for Pulmonary InterstitialEmphysema in preterm infants. Biology of theNeonate, 73, 34-39.

Fitzpatric, D.R., Keeling, J.W., Evans, M.J.,Kan, A.E., Bell, J.E., Porteous, M.E.M., Mills,K., Winter, R.E., & Clayton, P.T. (1998).Clinical phenotype of desmosterolosis.American Journal of Medical Genetics, 75, 145-152.

Flaherty, L., Jarvis, A., Harris, M., Tyrrell, V., &Smith, A. (1998). A case of chronicmyelomonocytic leukemia with isochromosome14q: twelve months followup. Cancer Geneticsand Cytogenetics, 101, 134-137.

Flaherty, M.P., & O'Flaherty, S.J. (1998).Neurological deterioration following headinjury: the eyes had it. Journal of Paediatrics &Child Health, 34, 202-205.

Forrest, J.M., Burgess, M.A., Heath, T.C., &McIntyre, P.B. (1998). Measles control inAustralia. Report of the Measles Control inAustralia Workshop, 1997. CommunicableDiseases Intelligence, 22, 33-36.

Fung, D.C., Yu, B., Cheong, K.F., Smith, A., &Trent, R.J. (1998). UBE3A "mutations" in twounrelated and phenotypically differentAngelman syndrome patients. Human Genetics,102, 487-492.

Gazarian, M., Williams, K., Elliott, E., Chant,K., Longbottom, H., Mellis, C., Nolan, T., &Oates, RK. (1998). Evaluation of a nationalsurveillance unit. Archives of Disease inChildhood, 80, 21-27.

Gibson, M.A., Ellis, S.L., Adés, L.C., Haan,E.A., & Cleary, E.G. (1998). Preferential pre-mRNA utilisation of an upstream cryptic 5'splice site created by a single base deletionmutation in exon 37 of the FBN-1 gene.European Journal of Biochemistry, 256, 221-228.

Glasson, E.J., Bower, C., Thomson, M.R., Fyfe,S., Leonard, S., Rousham, E., Christodoulou, J.,Ellaway, C., & Leonard, H. (1998). Diagnosisof Rett syndrome: can a radiograph help?Developmental Medicine & Child Neurology, 40,737-742.

Hannan, A.J., Gunning, P., Jeffrey, P.L., &Weinberger, R.P. (1998). Structural compart-ments within neurons: developmentally regu-lated organization of microfilament isoformmRNA and protein. Molecular & CellularNeurosciences, 11, 289-304.

Hayes, M., Evans, W., Ouvrier, R., Morris,J.G.L., & Somerville, E. (1998). X-linked dys-tonia-deafness syndrome. Movement Disorders,13, 303-308.

Heath, T.C., Burgess, M.A., & Forrest, J.M.(1998). Moving the second dose of measles-mumps-rubella vaccine to school entry: impli-cations for control of rubella. CommunicableDisease Intelligence, 22, 157-158.


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Heath, T.C., Burgess, M.A., & O'Brien, E.D.(1998). Administration of measles-mumps-rubella vaccination with other childhood sched-ule vaccines. Communicable Disease Intelligence,22, 159

Hendry, G.D., & Baur, L.A. (1998). Monitoringevaluation of a Paediatrics and Child Healthcourse: factors in implementing courseimprovement. Assessment and Evaluation inHigher Education, 23, 179-189.

Hornung, T.S., Bernard, E.J., Jaeggi, E.T.,Howman-Giles, R.B., Celermajer, D.S., &Hawker, R.E. (1998). Myocardial perfusiondefects and associated systemic ventriculardysfunction in congenitally corrected transpo-sition of the great arteries. Heart, 80, 322-326.

Howell, P.L., Turner, M.A., Christodoulou, J.,Walker, D.C., Craig, H.J., Simard, LR, Ploder,L., & McInnes, R.R. (1998). Intragenic com-plementation at the argininosuccinate lyaselocus: reconstruction of the active site. Journalof Inherited Metabolic Disease, 21 Suppl 1, 72-85.

Humphries, I.R.J., Allen, J.R., Waters, D.L.,Howman-Giles, R., & Gaskin, K.J. (1998).Volumetric bone mineral density in childrenwith cystic fibrosis. Applied Radiation andIsotopes, 49, 593-595.

Hunter, A.G., Bankier, A., Rogers, J.G.,Sillence, D., & Scott, C.I., Jr. (1998). Medicalcomplications of achondroplasia: a multicentrepatient review. Journal of Medical Genetics, 35,705-712.

Isaacs, M,, Zeng, F., Kesson, A.M.,Cunningham, A.L., & Rawlinson, W.R. (1998).UL97 genotyping of cytomegalovirus isolates: arapid method for antiviral susceptibility testingof cytomegalovirus to ganciclovir. MicrobiologyAustralia, 19, A70

Isaacs, D., Daley A.J., Dalton, D., Hardiman,R., & Nallusamy, R. (1998). Swabbing com-puters in search of nosocomial bacteria.Pediatric Infectious Diseases Journal, 17, 533-533.

Isaacs, D. (1998). Pathogenesis of infectiousdiseases. Kota Bahru Journal of MedicalScience, 1, 1-4.

Isaacs, D. (1998). Prevention of early-onsetgroup B streptococcal infection : screen, treator observe. Archives of Disease in Children, Fetaland Neonatal Edition, 79, F81-F82

Jalaludin, B., Xuan, W., Mahmic, A., Peat, J.,Tovey, E., & Leeder, S. (1998). Associationbetween Der p 1 concentration and peak expi-ratory flow rate in children with wheeze: a lon-gitudinal analysis. Journal of Allergy & ClinicalImmunology, 102, 382-386.

Jamieson, R.V., Tan, S.S., & Tam, P.P. (1998).Retarded postimplantation development of X0mouse embryos: impact of the parental origin ofthe monosomic X chromosome. DevelopmentalBiology, 201, 13-25.

Jamieson, R.V., Zhou, S.X., Wheatley, S.C.,Koopman, P., & Tam, P.P. (1998). Sertoli cell dif-ferentiation and Y-chromosome activity: a devel-opmental study of X-linked transgene activity insex-reversed X/XSxra mouse embryos.Developmental Biology, 199, 235-244.

Jepson, R.G., Mihalijevic, L., & Craig, J.C.(1998). Cranberries for the treatment of uri-nary tract infection (Cochrane Review). In TheCochrane Library, Issue 4. Oxford: Update soft-ware.

Jones, K., Lee, S., & North, K. (1998).Abnormalities of dystrophin, the sarcoglycansand merosin in the muscular dystrophies.Journal of Medical Genetics, 35, 379-386.

Jones, K., & North, K. (1998). Developmentaldelay, expressive aphasia, hypotonia and dys-morphism in two brothers: An X-linked mentalretardation syndrome. Clinical Genetics, 54,445

Joshi, P., Kakakios, A., Jayasekera, J., &Isaacs, D. (1998). A comparison of IL-2 levelsin nasopharyngeal and endotracheal aspiratesof babies with respiratory syncytial viral bron-chiolitis. Journal of Allergy and ClinicalImmunology, 102, 618-620.

Joshi, P., & Barr, P. (1998). The use of lumbarpuncture and laboratory tests for sepsis byAustralian neonatologists. Journal ofPaediatrics and Child Health, 34, 74-78.

Kabir, A., Hanson, R., Mellis, C.M., & VanAsperen, P.P. (1998). Is asthma documentationimproved by computer-facilitated data entry?Journal of Quality in Clinical Practice, 18, 187-193.

Kao, Y.L., Donaghue, K., Chan, A., Knight, J., &Silink, M. (1998). A variant of paraoxonase(PON1) gene is associated with diabeticretinopathy in IDDM. Journal of ClinicalEndocrinology & Metabolism, 83, 2589-2592.

Kappagoda, C., Schell, D.N., Hanson, R.M., &Hutchins, P. (1998). Clonidine overdose inchildhood: implications of increased prescrib-ing. Journal of Paediatrics & Child Health, 34,508-512.

Kellie, S.J. (1998). Recent advances in paedi-atric neuro-oncology. Cancer Forum, 22, 140-142.

Kesson, A.M., Zeng, F., Cunningham, A.L., &Rawlinson, W.R. (1998). The use of flowcytometry to detect antiviral resistance inhuman cytomegalovirus. Journal of VirologicalMethods, 71, 177-186.

Kesson, A.M. (1998). Use of acyclovir in her-pes simplex virus infections. Journal ofPaediatrics and Child Health, 34, 9-13.

Kirk, E., & Adés, L.C. (1998). Hypoplastic leftheart in cerebro-costo-mandibular syndrome.Journal of Medical Genetics, 35, 879-879.

Kohn, M.R., Golden, N.H., & Shenker, I.R.(1998). Cardiac arrest and delirium: presenta-tions of the refeeding syndrome in severely mal-nourished adolescents with anorexia nervosa.Journal of Adolescent Health, 22(3), 239-243.

Kozlowski, K., & Oates, R.K. (1998). Batteredchild syndrome. Roentgenological Radiologica, 4,5-8.

Kuo, R., Bellemore, M., Monsell, F., Frawley,K., & Kozlowski, K. (1998). Dysplasia epiphy-sealis hemimelica: clinical features and man-agement. Journal of Pediatric Orthopaedics, 18,543-548.

LaRussa, P., Steinberg, S., Arvin, A., Dwyer,D., Burgess, M., Menegus, M., Rekrut, K.,Yamanishi, K., & Gershon, A. (1998).Polymerase chain reaction and restriction frag-ment length polymorphism analysis of varicel-la-zoster virus isolates from the United Statesand other parts of the world. Journal ofInfectious Diseases, 178 Suppl 1, S64-S66

Lawson, J.A., Nguyen, W., Bleasel, A., Vogrin,S., Cook, M.J., Bye, A.M., & Pereira, J.K.(1998). ILAE defined epilepsy syndrome inchildren: Correlation with quantitative MRI.Epilepsia, 39, 1345-1349.

Leonard, H., & Bower, C. (1998). Is the girlwith Rett Syndrome normal at birth?Developmental Medicine & Child Neurology, 40,115-121.

Lord, B., & Pockett, R. (1998). Perceptions ofsocial work intervention with bereaved clients.Social Work in Health Care, 27, 51-66.

Luders, H., Acharya, J., Baumgartner, C.,Benbadis, S., & Bleasel, A. (1998). Semiologyseizure classification. Epilepsia, 39, 1006-1013.

Luders, H., Acharya, J., Baumgartner, C.,Benbadis, S., & Bleasel, A. (1998). A newepileptic seizure classification based exclusive-ly on ictal semiology. Acta Neurol Scandinavia,98, 1-5.

Massie, R.J.H., Towns, S.J., Bernard, E.,Chaitow, J., Howman-Giles, R., & Van Asperen,P.P. (1998). Musculoskeletal complications ofcystic fibrosis. Journal of Paediatrics and ChildHealth, 34, 467-470.

Massie, R.J.H., Cooper, P.J., Van Asperen, P.P.,& McIntyre, P. (1998). Pneumocystis cariniipneumonia: Pitfalls of prophylaxis. Journal ofPaediatrics and Child Health, 34, 477-479.

McCowage, G.B., Phillips, K.L., Gentry, T.L.,Hull, S., Kurtzberg, J., Gilboa, E., & Smith, C.(1998). Multiparameter-fluorescence activatedcell sorting analysis of retroviral vector genetransfer into primitive umbilical cord bloodcells. Experimental Hematology, 26, 288-298.

publicationsMcCowage, G.B., Friedman, H.S., Moghrabi,A., Kerby, T., Ferrell, L., Stewart, E., Duncan-Brown, M., Fuchs, H.E., Tien, R., McLendon,R.E., Meier, L., Kurtzberg, J., Ashley, D.,Colvin, O.M., & Longee, D.C. (1998). Activityof high-dose cyclophosphamide in the treat-ment of childhood malignant gliomas. Medical& Pediatric Oncology, 30, 75-80.

McIntosh, E.D., Givney, R., Zhang, S.S.,Courouce, A.M., Burgess, M., & Cossart, Y.E.(1998). Molecular epidemiology and variation ofhepatitis B in recent immigrant families toAustralia. Journal of Medical Virology, 56, 10-17.McIntyre, P., Forrest, J., Heath, T., Burgess, M.,& Harvey, B. (1998). Pertussis vaccines: past,present and future in Australia. CommunicableDisease Intelligence, 22, 125-132.

McKay, K.O., Johnson, P.R.A., Black, J.L.,Glanville, A.R., & Armour, C.L. (1998). Airwaystructure and function in Eisenmenger'sSyndrome. American Journal of Respiratory andCritical Care Medicine, 158, 1245-1252.

Moses Lahra, M., Heath, P.T., Wilkinson, A.R.,Jeffery, H.E., & Isaacs, D. (1998). Early-onsetgroup B streptococcal neonatal infection inOxford. Archives of Disease in Children, Fetaland Neonatal Edition, 79, F148-F149

Mowat, D.R., Croaker, G.D., Cass, DT., Kerr,B.A., Chaitow, J., Adés, L.C., Chia, N.L., &Wilson, M.J. (1998). Hirschsprung disease,microcephaly, mental retardation and charac-teristic facial features: delineation of a newsyndrome and identification of a locus at chro-mosome 2q22-q23. Journal of Medical Genetics,35, 617-623.

Mulley, J., Saar, K., Hewitt, G., Ruschendorf, F.,Phillips, H., Colley, A., Sillence, D., Reis, A., &Wilson, M. (1998). Gene localization for anautosomal dominant familial periodic fever to12p13. American Journal of Human Genetics,62, 884-889.

Nagy, S. (1998). A comparison of the effects ofpatients' pain on nurses working in burns andneonatal intensive care units. Journal ofAdvanced Nursing, 27, 335-340.

Nicholson, G., Ouvrier, R., & Ikegami, T.(1998). De novo mutation of the myelin Pogene in Dejerine-Sottas disease (hereditarymotor and sensory neuropathy type III): twoamino acid insertion after Asp 118. HumanMutation, Suppl 1, S103-S105.

Nourse, C.R., Mattei, M.G., Gunning, P., &Byrne, J.A. (1998). Cloning of a third memberof the D52 gene family indicates alternativecoding sequence usage in D52-like transcripts.Biochim Biophys Acta, 1443, 155-168.

Nunn, K., Thompson, S., Moore, S., English,M., & Byrne, N. (1998). Managing pervasiverefusal syndrome: Strategies of hope. ClinicalChild Psychology and Psychiatry, 3, 229-249.

Oates, R.K., Tebbutt, J., Swanston, H., Lynch,D.L., & O'Toole, B.I. (1998). Prior childhoodsexual abuse in mothers of sexually abused chil-dren. Child Abuse & Neglect, 22, 1113-1118.

Ouvrier, R. (1998). Progres en genetique desneuropathies peripheriques chez l'enfant. ArchPediatr, 5, 480-483.

Ouvrier, R. (1998). The hypomyelinating neu-ropathies of mice and men. Rev Neurol (Paris),154, 481-487.

Parasyn, A., Hanson, R.M., Peat, J.K., & DeSilva, M. (1998). A comparison between digi-tal images viewed on a picture archiving andcommunication system diagnostic workstationand on a PC-based remote viewing system byemergency physicians. Journal of DigitalImaging, 11, 45-49.

Parsons, S., Celermajer, D., Savidis, E., Miller,O., & Young, I. (1998). The effect of inhalednitric oxide on 6-minute walk distance inpatients with pulmonary hypertension. Chest,114, 70S-72S.

Pelletier, D., Duffield, C., Mitten-Lewis, S.,Nagy, S., & Crisp, J. (1998). Australian nursesand device use: the ideal and the real in clinicalpractice. Australian Critical Care, 11, 10-14.

Phan, T., & Bleasel, A. (1998). Transient lossof consciousness: Diagnosis and investigation.Modern Medicine, 41, 38-49.

Reed, E.E., Roy, L.P., Gaskin, K.J., & Knight,J.F. (1998). Nutritional intervention andgrowth in children with chronic renal failure.Journal of Renal Nutrition, 8, 122-126.

Rimoin, D.L., Francomano, C.A., Giedion, A.,Hall, C., Kaitila, I., Cohn, D., Gorlin, R., Hall, J.,Horton, W., Krakow, D., Le Merreur, M.,Lachman, R., Poznanski, A., Sillence, D.,Spranger, J., Warman, M., Superti-Furga, A., &Wilcox, W. (1998). International nomenclatureand classification of the osteochondrodys-plasias. American Journal of Medical Genetics,79, 376-382.

Robertson, C.F., Norden, M.A., Fitzgerald, D.A.,Connor, F.L., Van Asperen, P.P., Cooper, P.J.,Francis, P.N., & Allen, H.D.W. (1998).Treatment of acute asthma: salbutamol via jetnebuliser vs spacer and metered dose inhaler.Journal of Paediatrics and Child Health, 34, 142-146.

Robertson, C.F., Dalton, M.F., Peat, J.K., Haby,M.M., Bauman, A., Kennedy, J.D., & Landau,L.I. (1998). Asthma and other atopic diseasesin Australian children. Australian arm of theInternational Study of Asthma and Allergy inChildhood. Medical Journal of Australia, 168,434-438.

Roebuck, D.J., Nicholls, W.D., Bernard, E.J.,Kellie, S.J., & Howman-Giles, R. (1998).Misleading leads. Thallium-201 uptake inrebound thymic hyperplasia. Medical &Pediatric Oncology, 30, 297-300.

Rogers, M. (1998). Herpes simplex virus infec-tion: clinical presentations in children. ModernMedicine of Australia, 41, 44-49.

Rogers, M. (1998). Scalp scaling in children.Pharmacy Paediatric Review, 2, 3-4.

Rohan, J., Harris, P., & Stiefel, I. (1998). Yes,and ....: An object relations response.Australian and New Zealand Journal of FamilyTherapy, 19, 208-209.

Royle, J., Williams, K., Elliott, E., Sholler, G.,Nolan, T., Allen, R., & Isaacs, D. (1998).Kawasaki disease in Australia, 1993-1995.Archives of Disease in Childhood, 78, 33-39.

Russell, J., Baur, L., Byrnes, S., Zipfel, S., &Beumont, P. (1998). Refeeding of anorexics:wasteful not wilful. Lancet, 352, 1445-1446.

Schull, M., Battista, R.N., Brophy, J., Joseph,L., & Cass, D. (1998). Determining appropri-ateness of coronary thrombolysis in the emer-gency department. Annals of EmergencyMedicine, 31, 12-18.

Seymour, J.F., Begley, C.G., Dirksen, U.,Presneill, J.J., Nicola, N.A., Moore, P.E.,Schoch, O.D., Van Asperen, P.P., Roth, B.,Burdach, S., & Dunn, A.R. (1998). Attenuatedhematopoietic response to granulocyte-macrophage colony-stimulating factor inpatients with acquired pulmonary alveolar pro-teinosis. Blood, 92, 2657-2667.

Shann, F., Macgregor D., Richens, J., &Coakley, J. (1998). Cardiac failure in childrenwith pneumonia in Papua New Guinea.Pediatric Infectious Disease Journal, 17, 1141-1143.

Sheffield, L.J., Osborn, A., Hutchinson, W.,Sillence, D.O., Forrest, S.M., White, S., & Dahl,H.H. (1998). Segregation of mutations in aryl-sulphatase E and correlation with the clinicalpresentation of chondrodysplasia punctata.Journal of Medical Genetics, 35, 1004-1008.

Sherwood, M.C., Lau, K.C., & Sholler, G.F.(1998). Adenosine in the management ofsupraventricular tachycardia in children.Journal of Paediatrics & Child Health, 34, 53-56.

Shrimpton, S., Oates, R.K., & Hayes, S. (1998).Children's memory of events: effects of stress,age, time delay and place of interview. AppliedCognitive Psychology, 12, 133-143.

Silink, M. (1998). Practical management ofdiabetic ketoacidosis in childhood and adoles-cence. Acta Paediatrica, Suppl 425, 63-66.Smith, A., Robson, L., & Buchholz, B. (1998).Angelman syndrome due to paternal UPD: twomore cases with normal growth. ClinicalGenetics, 53, 223-225.

Smyth, C., Logan, G., Weinberger, R.P., Rowe,P.B., Alexander, I.E., & Smythe, J.A. (1998).Identification of a dynamic intracellular reser-voir of CD86 protein in peripheral blood mono-cytes that is not associated with the Golgi com-plex. Journal of Immunology, 160, 5390-5396.

Spence, K. (1998). Ethical issues for neonatalnurses. Nursing Ethics, 5, 206-217.

Spence, K. (1998). Ethically significant issuesfor neonatal nurses. Neonatal, Paediatric, ChildHealth Nursing, 1, 6-11.


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Starr, M., Bennett-Wood, V., Bigham, A., deKoning-Ward, T., Bordun, A., Lightfoot, D.,Bettelheim, K., Jones, C., & Robins-Browne, R.(1998). Haemolytic uremic syndrome followingurinary tract infection with enterohemorrhagicEscherichia. Clinical Infectious Diseases, 27,310-315.

Stevens, M.M. (1998). Children and grief: apaediatric oncology perspective. Grief Matters,The Australian Journal of Grief and Bereavement,1, 12-15.

Tang, S.F., Sherwood, M.C., & Miller, O.(1998). Randomised trial of three doses ofinhaled nitric oxide in acute respiratory dis-tress syndrome. Archives of Diseases inChildhood, 79, 415-418.

Temm-Grove, C.J., Jockusch, B.M., Weinberger,R.P., Schevzov, G., & Helfman, D.M. (1998).Distinct localizations of tropomyosin isoformsin LLC-PK1 epithelial cells suggests special-ized function at cell-cell adhesions. CellMotility & the Cytoskeleton, 40, 393-407.

Thomis, M., Beunen, G., Maes, H., Blimkie, C.,Van Leemputte, M., Claessens, A., Marchal, G.,Willems, E., & Vlietinck, R. (1998). Strengthtraining: Importance of genetic factors.Medicine and Science in Sports and Exercise, 30,724-731.

Thomis, M., Beunen, G., Van Leemputte, M.,Maes, H., Blimkie, C., Claessens, A., Marchal,G., Willems, E., & Vlietinck, R. (1998).Inheritance of static and dynamic arm strengthand some of its determinants. ActaPhysiologica Scandinavica, 163, 59-71.

Tzioumi, D., & Oates, R.K. (1998). Subduralhematomas in children under 2 years.Accidental or inflicted? A 10-year experience.Child Abuse & Neglect, 22, 1105-1112.

Van Asperen, P.P. (1998). Preventative med-ication in childhood asthma. PharmacyPaediatric Review, 5, 1-3.

Waters, K.A., Forbes, P., Morielli, A., Hum, C.,O'Gorman, A.M., Vernet, O., Davis, G.M.,Tewfik, T.L., Ducharme, F.M., & Brouillette,R.T. (1998). Sleep-disordered breathing in chil-dren with myelomeningocele. Journal ofPediatrics, 132, 672-681.

Waugh, M.C., Chong, W.K., & Sonksen, P.(1998). Neuroimaging in children with congen-ital disorders of the peripheral visual system.Developmental Medicine & Child Neurology, 40,812-819.

White, L., Kellie, S., Gray, E., Toogood, I.,Waters, K., Lockwood, L., Macfarlane, S., &Johnston, H. (1998). Postoperative chemother-apy in children less than 4 years of age withmalignant brain tumors: promising initialresponse to a VETOPEC-based regimen. AStudy of the Australian and New ZealandChildren's Cancer Study Group (ANZCCSG).Journal of Pediatric Hematology/Oncology, 20,125-130.

Williams, A., Sekaninova, S., & Coakley, J.(1998). Supression of elevated alanine amino-transferase activity in liver disease by vigaba-trin. Journal of Paediatrics and Child Health, 34,395-397.

Williams, A.J., Coakley, J., & Christodoulou, J.(1998). Automated analysis of mitochondrialenzymes in cultured skin fibroblasts.Analytical Biochemistry, 259, 176-180.

Williams, F., Knapp, D., & Wallen, M. (1998).Comparison of the characteristics and featuresof pressure garments used in the managementof burns scars. Burns, 24, 329-335.

Williams, G.D., Matthews, N.T., Choong, R.K.,& Ferson, M.J. (1998). Infant pertussis deathsin New South Wales 1996-1997. MedicalJournal of Australia, 168, 281-283.

Williams, K., & Elliott, E. (1998). Role of theAustralian Paediatric Surveillance Unit in mon-itoring communicable diseases of childhood.Communicable Disease Intelligence, 22, 283-287.

Wu, T., Ng, Y., & Ouvrier, R. (1998). DrugTherapy in juvenile dermatomyositis. A follow-up study. Journal of Child Neurology, 13, 109-112.

Yang, G.C., Croaker, G.D., Zhang, A.L.,Manglick, P., Cartmill, T., & Cass, D. (1998). Adinucleotide mutation in the endothelin-Breceptor gene is associated with lethal whitefoal syndrome (LWFS): a horse variant ofHirschsprung's disease (HSCR). HumanMolecular Genetics, 7, 1047-1052.

Reviews

Amin, J., McIntyre, P.B., & Heath, T.C. (1998).Measles vaccine, inflammatory bowel diseaseand pervasive developmental disorder: is therecause for concern? Communicable DiseasesIntelligence, 22, 58-59.

Donaghue, K.C. (1998). Autonomic neuropa-thy: diagnosis and impact on health in adoles-cents with diabetes. Hormone Research, 50Suppl 1, 33-37.

Flaherty, L., Moloney, J., Watson, N., Robson,L., Bousfield, L., & Smith, A. (1998). A case ofmonosomy 21 found to be an unbalanced denovo t(5p;21q) by fluorescence in situhybridization. Journal of Intellectual DisabilityResearch, 42, 254-258.

Gunning, P., Hardeman, E., Jeffrey, P., &Weinberger, R. (1998). Creating intracellularstructural domains: spatial segregation of actinand tropomyosin isoforms in neurons.Bioessays, 20, 892-900.

Gunning, P., Weinberger, R., Jeffrey, P., &Hardeman, E. (1998). Isoform sorting and thecreation of intracellular compartments. AnnualReview of Cell & Developmental Biology, 14,339-372.

Hanson, R., Phythian, M., Jarvis, J., & Stewart,C. (1998). The true cost of treating children.Medical Journal of Australia, 169, S39-S41.

Isaacs, D., & Mellis, C.M. (1998).Tuberculosis in children in Australia: strate-gies for control. Paediatric Special InterestGroup of the Australasian Society forInfectious Diseases and the AustralasianPaediatric Respiratory Group. Medical Journalof Australia, 168, 121-124.

McIntyre, P., & Craig, J.C. (1998). Preventionof serious bacterial infection in children withnephrotic syndrome. Journal of Paediatrics &Child Health, 34, 314-317.

McIntyre, P.B., O'Brien, E.D., & Heath, T.C.(1998). Immunisation and asthma.Communicable Disease Intelligence, 22, 38.

McIntyre, P.B., Heath, T.C., O'Brien, E.D., &Hull, B.P. (1998). National immunisation cov-erage--interpreting the first three quarterlyreports from the ACIR. Communicable DiseaseIntelligence, 22, 111-112.

North, K. (1998). Clinical Aspects ofNeurofibromatosis 1. Seminars in PediatricNeurology, 5, 231-242.

North, K. (1998). Clinical aspects ofNeurofibromatosis. European Journal ofPaediatric Neurology, 2, 1-9.

Peat, J., & Bjorksten, B. (1998). Primary andsecondary prevention of allergic asthma.European Respiratory Journal (Suppl), 27, 28S-34S.

Peat, J.K. (1998). Asthma: a longitudinal per-spective. Journal of Asthma, 35, 235-241.


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Peat, J.K., Toelle, B.G., & Nagy, S.A. (1998).Qualitative research: a path to better health-care. Medical Journal of Australia, 169, 327-329.

Peat, J.K. (1998). Can asthma be prevented?Evidence from epidemiological studies of chil-dren in Australia and New Zealand in the lastdecade. Clinical & Experimental Allergy, 28,261-265.

Peat, J.K., Dickerson, J., & Li, J. (1998).Effects of damp and mould in the home on res-piratory health: a review of the literature.Allergy, 53, 120-128.

Saggesse, G., Ranke, M.B., Saenger, P.,Rosenfield, R.G., Cowell, C.T., Tanaka, T.,Chaussain, J.L., & Savage, M.O. (1998).Diagnosis and treatment of growth hormonedeficiency in children and adolescents: towardsa consensus. Ten years after the availability ofrecombinant human growth hormone workshopheld in Pisa, Italy. Hormone Research, 50, 320-340.

Wilcken, B. (1998). Neonatal screening forcystic fibrosis: it is time. PediatricPulmonology, 26, 219-221.

Wilcken, D.E., & Wilcken, B. (1998). B vita-mins and homocysteine in cardiovascular dis-ease and aging. Annals of the New YorkAcademy of Sciences, 854, 361-370.

Books, Book Chapters and

Forewords

Bailey, J.G. (1998). Students with ADHD: Atthe margins of the inclusion debate? In M.Ainscow & T. Booth (Eds.), Case studies ininclusion - international comparisons. London:Routledge.

Bailey, J.G., & Barton, B. (1998). Challenges ofre-entering home and school for children andadolescents with a chronic illness. In K.Ballard (Ed.), The voices of students with dis-abilities. Auckland: Fulmar.

Bailey, J.G. (1998). Medical and psychologicalmodels in special education. In C. Clark, A.Dyson, & A. Millward (Eds.), Theorising in spe-cial education. London: Routledge.

Bennett, D.L., & Reed, M.S. (1998).Adolescent health care: A collaborative chal-lenge. In Vesna, Dramusic, & S.S. Ratman(Eds.), Clinical approach to paediatric and ado-lescent gynaecology. (pp. 339-348). Singapore:Oxford University Press.

Christodoulou, J., & McInnes, R.R. (1998). Aclinical approach to inborn errors of metabo-lism. In A. Rudolph & R. Kamei (Eds.),Rudolph's fundamentals of paediatrics. (pp. 181-208). Stamford: Appleton and Lange.

Cowell, C. (1998). Non-invasive methods ofstudying bone metabolism. In GH and Bone.(pp. 7-9). London: Oxford ClinicalCommunications.

Donaghue, K. (1998). Retinopathy. In Werther,G.A. & Court, J.M. (Eds.), Diabetes and the ado-lescent. (pp. 157-174). Melbourne: MiranovaPublishers.

Donaghue, K. (1998). Diabetes complicationsscreening. In Werther, G.A. & Court, J.M.(Eds.), Diabetes and the adolescent. (pp. 349-350). Melbourne: Miranova Publishers.

Gillis, J., & Hutchins, P. (1998). Home ventila-tion: indications, ethics and practicalities. In A.Duncan (Ed.), Fundamentals of anaesthesia andacute medicine: paediatric intensive care. London:BMJ Publishing Group.

Gillis, J. (1998). Design of a paediatric inten-sive care unit. In J. Gillis (Ed.), Paediatric inten-sive care. (pp. 7-8). London: Bailliere Tindall.

Gillis, J. (1998). Paediatric intensive care.London: Bailliere Tindall.

Gschwind, C., & Tonkin, M. (1998). PosteriorInterosseous Artery Flap. In B. Strauch, L.Vasconez, & E. Hall-Findlay (Eds.), Grabb'sencyclopedia of flaps. (pp. 1066-1070).Philadephia: Lippincott-Raven.

Hanson, R., Browne, G.J., Fasher, B., & Oates,R.K. (1998). Childhood emergencies. In G.Fulde (Ed.), The principles and practice of emer-gency medicine. (pp. 262-287). Sydney:MacLennan and Petty.

Hanson, R., & Fairley, M. (1998). Paediatricdisorders - psychiatric. In R. Aghababian (Ed.),Emergency medicine the core curriculum. (pp.751-757). Philadelphia: Lippincott-Raven.

Isaacs, D. (1998). Infections due to virusesand allied organisms. In J.O. Forfer & G.C.Arneil (Eds.), Textbook of paediatrics. London:Churchill Livingstone.

Miller, O., & Symonds, J. (1998). Equipment:assessment, purchase and standards within theintensive care unit. In J. Gillis (Ed.), Paediatricintensive care. (pp. 29-40). London: BailliereTindall.

Morrison, A. (1998). Burns. In ENPC ProviderManual. Park Ridge, Illinois: EmergencyNurses Association.

Oates, R.K. (1998). Developmental screeningassessment. In R. Robinson & D. Roberton(Eds.), Practical Paediatrics. (pp. 94-102).Melbourne: Churchill-Livingstone.

Pigott, N., & Gillis, J. (1998). ClinicalInformation Systems in Critical Care. In J.Gillis (Ed.), Paediatric Intensive Care. (pp. 41-53). London: Bailliere Tindall.

Robins-Browne, R., Elliott, E., &Desmarchelier, P. (1998). Shiga toxin-produc-ing Escherichia Coli in Australia in. In J. Kaper& A. O'Brien (Eds.), Escherichia Coli 0157:H7and other shiga toxin-producing E.coli strains.(pp. 66-72). Washington: American Society forMicrobiology.

Rogers, M., & Barnetson, R. (1998). Diseasesof the skin. In A. Campbell & N. McIntosh(Eds.), Forfar and Arneil's textbook of paedi-atrics. Edinburgh: Churchill Livingstone.

Rutland, J., Morgan, L., Waters, K.A., VanAsperen, P.P., & De Jongh, R. (1998).Diagnosis of Primary Ciliary Dyskinesia. InG.L. Baum, Z. Priel, Y. Roth, N. Liron, & E.Ostfeld (Eds.), Cilia, mucus and mucociliaryinteractions. (pp. 407-428). Marcell Decker Inc.

Silink, M. (1998). Foreword. In G.A. Werther& J.M. Court (Eds.), Diabetes and the adoles-cent. Melbourne: Miranova Publishers.

Tonkin, M. (1998). Humeroradial synostosis.In D. Green, R. Hotchkiss, & W. Pederson(Eds.), Green's operative hand surgery. (pp.488). New York: Churchill Livingstone.

Tonkin, M. (1998). Synostosis. In D. Green, R.Hotchkiss, & W. Pederson (Eds.), Green'soperative hand surgery. (pp. 486-488). NewYork: Churchill Livingstone.

Tonkin, M. (1998). Carpal synostosis. In D.Green, R. Hotchkiss, & W. Pederson (Eds.),Green's operative hand surgery. (pp. 492-493).New York: Churchill Livingstone.

Tonkin, M. (1998). Forearm synostosis. In D.Green, R. Hotchkiss, & W. Pederson (Eds.),Green's operative hand surgery. (pp. 488-492).New York: Churchill Livingstone.


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Tonkin, M. (1998). Ulnar longitudinal deficien-cy. In D. Green, R. Hotchkiss, & W. Pederson(Eds.), Green's operative hand surgery. (pp. 358-368). New York: Churchill Livingstone.

Tonkin, M. (1998). Transverse deficiencies. InD. Green, R. Hotchkiss, & W. Pederson (Eds.),Green's operative hand surgery. (pp. 338-341).New York: Churchill Livingstone.

Tonkin, M. (1998). Longitudinal intersegmen-tal deficiency. In D. Green, R. Hotchkiss, & W.Pederson (Eds.), Green's operative hand surgery.(pp. 341-344). New York: ChurchillLivingstone.

Tonkin, M. (1998). Longitudinal radial defi-ciency. In D. Green, R. Hotchkiss, & W.Pederson (Eds.), Green's operative hand surgery.(pp. 344-358). New York: ChurchillLivingstone.

Wood, V., & Tonkin, M. (1998). Metacarpalsynostosis. In D. Green, R. Hotchkiss, & W.Pederson (Eds.), Green's operative hand surgery.(pp. 493-503). New York: ChurchillLivingstone.

Short Articles and Letters

Burgner, D., McDonald, D., Watson, M., &Pike, M. (1998). A 6-year old child with vacantepisodes and unilateral convulsions. Lancet,352, 1750

Cocks, A. J. (1998). Cardiopulmonary resusci-tation in children. Modern Medicine of Australia,April, 131-136.

Faniran, AO, Peat J.K, and Woolcock, A. J.(1998). Cough- is it asthma? Archives of Diseasein Children 79, 411-414.

Hanson, RM. (1998). Casemix: evolution, notrevolution. Medical Journal of Australia 169, S4-S5.

Hogan, P. (1998). Localised alopecia of thescalp. Common causes. Australian FamilyPhysician 27, 954-955.

Hogan, P. (1998). Annular skin lesions with asmooth surface. Australian Family Physician 27,1133-1134.

Hogan, P. A. (1998). What is folliculitis?Australian Family Physician 27, 528-529.

Hogan, P. A. (1998). Paediatric dermatology.Impetigo. Australian Family Physician 27, 735-736.

Howell, N., Bogolin, C., Jamieson, R., Marenda,D. R., and Mackey, D. A. (1998). mtDNA muta-tions that cause optic neuropathy: how do weknow? American Journal of Human Genetics 62,196-202.

Isaacs, D. and Donald, P. (1998). Your diagno-sis please. Brothers with fever and abdominalpain. Pediatric Infectious Diseases Journal 17,665-666.

Isaacs, D. and McIntyre, P. (1998). Penicillin orthird-generation cephalosporin in doctors'bags. Medical Journal of Australia 168, 195.

Kohn, M. R. and Hughes, M. (1998). Substanceuse in adolescence. The Australian PaediatricReview 7, 1.

Kung, S. H., Hagstrom, J. N., Cass, D., Tai, S. J.,Lin, H. F., Stafford, D. W., and High, K. A.(1998). Human factors IX corrects the bleedingdiathesis of mice with hemophilia B. Blood 91,784-790.

Peat J.K. (1998). Dietary fatty acids and asth-ma. Respira 5, 1-3.

Selvadurai, H., McIntyre, P., and Mellis, C. M.(1998). Lest we forget acute epiglottitis.Journal of Paediatrics and Child Health 34, 306-307.

Sholler, G. F. (1998). How to investigate thechild with heart murmur. Modern Medicine ofAustralia September, 100-103.

Smith, A, Haan, E, Warne, G, Montgomery, P,MacMillan, J, Elliott, E, and Williams, K.(1998). Prader-Willi syndrome: a new study ofthe Australian Paediatric Surveillance Unit.Journal of Paediatrics and Child Health 34, 398-402.

Stiefel, I. & Dossetor, D. (1998). The syner-gistic effects of stimulants and parental psy-chotherapy in the treatment of attention deficithyperactivity disorder: a case report. Journal ofPaediatrics and Child Health, 34, 391-394.


9390

Abstracts

Adés, L.C., Sreetharan, D., Holman, K.J., &Watson, K.C. (1998). Segregation of kyphosco-liosis with a novel FBN1 gene mutation,G1796E, in three generations. Human GeneticsSociety of Australasia 22nd Annual ScientificMeeting, Melbourne.

Adés, L.C., Sreetharan, D., Holman, K.J., &Watson, K.C. (1998). A novel FBN1 mutation,G1796E, segregates with kyphoscoliosis inthree generations. Fifth InternationalSymposium on the Marfan syndrome, Helsinki.

Alexander, I.E. (1998). Gene Therapy -Molecular Surgery? Royal Australasian Collegeof Surgeons Annual Scientific Congress, Sydney.

Alvaro, F., To, B., Mrongovius, R., Teideman,K., McCowage, G.B., Berdoukas, V., Lockwood,L., Toogood, I., & Corbett, R. (1998).Mobilization and engraftment of peripheralblood stem cells; Preliminary results fromVETOPEC II. Clinical Oncological Society ofAustralia, Sydney.

Atkins, M.C., Hatfield, C., & Afify, Z. (1998).Stem cell transplantation at RAHC: towards2000. Society for Hospital PharmacistsAssociation state branch conference, Gosford.

Badawi, N., Kurinczuk, J.J., Keogh, J.M.,Alessandri, L.M., Burton, P.R., O'Sullivan, F.,Pemberton, P.J., & Stanley, F.J. (1998).Neonatal encephalopathy in the term infant.8th International Child Neurology Congress,Slovenia.

Badawi, N., Keogh, J.M., Kurinczuk, J.J.,Burton, P.R., Pemberton, P.J., & Stanley, F.J.(1998). The role of Caesarean sections in new-born encephalopathy. Perinatal Society ofAustralia and New Zealand, second annual con-gress, Alice Springs.

Baines, D., & Sheil, M. (1998). Intraoperativetransoesophageal echocardiography in congen-ital heart disease. Innovation & AchievementConference, Sydney.

Bakker, K., & Hannan, T. (1998). A longitudi-nal study of childhood amnesia. AustralianJournal of Psychology, 50, 132.

Baur, L.A. (1998). Obesity in childhood andadolescence. Proceedings of the EndocrineSociety of Australia Annual PostgraduateSeminar, Adelaide.

Baur, L.A. (1998). Energy expenditure andsubstrate utilisation in anorexia nervosa andobesity. Proceedings of the Endocrine Society ofAustralia Annual Postgraduate Seminar, Adelaide.

Baur, L.A., O'Connor, J., Pan, D.A., & Storlien,L.H. (1998). Muscle membrane lipid composi-tion in young children: relation to indices ofmaternal insulin resistance. Proceedings of theRoyal Australasian College of Physicians AnnualScientific Meeting, Melbourne.

Beckman, U., Baldwin, I., Durie, M., Morrison,A., & Shaw, L. (1998). Problems associatedwith endotracheal tube securing: an analysis ofthe first 2800 incident reports submitted toAIMS-ICU. Anaesthesia & Intensive Care, 26,450.

Beckman, U., Baldwin, I., Durie, M., Morrison,A., & Shaw, L. (1998). Paediatric drug errorsidentified in the first 2800 incident reportssubmitted to the Australian IncidentMonitoring Study in Intensive Care (AIMS-ICU). Anaesthesia & Intensive Care, 26, 435-436. (abstract)

Bennetts, B. (1998). The HLA-DRB1Val86/Val86 genotype associates with MS inboth DRB1*1501 and non-DRB1*1501Australian patients. Progress in MultipleSclerosis Research, Melbourne.

Bernhardt, P. (1998). Extracorporeal perfusionsystems and paediatric modifications.Innovation & Achievement Conference, Sydney.

Blimkie, C., Duncan, C., Burke, S., Kemp, A.,Briody, J., Woodhead, H., Cowell, C., &Howman-Giles, R. (1998). Mechanical loaddistribution, leg strength and mid-femur geom-etry in elite adolescent female athletes. Bone23, 589.

Booth, M.L., Macaskill, P., Lazarus, R., &Baur, L.A. (1998). Sociodemographic relation-ships of body fatness in Australian children andadolescents. International Journal of Obesity, 22(Suppl 3), S209.

Boulton, T.J.C., Cowell, C., Baur, L.A.,Margarey, A., & Landers, M. (1998). Nutritionin early life: somatic growth and serum lipids.Proceedings of the XIth Medical Symposium of theYrjo Jahnsson Foundation, Finland.

Bousfield, L., Macleod, R., Chia, N.L., & Adés,L.C. (1998). Possible origin of a case of a denovo mosaicism involving two post-zygoticevents: translocation and trisomic rescue.Human Genetics Society of Australasia 22ndAnnual Scientific Meeting, Melbourne.

Browne, G.J., & Penna, A.C. (1998). Effectiveuse of beta2-agonists in childhood asthma. 7thInternational Conference on Emergency Medicine,Vancouver.

Browne, G.J., Peat, J.K., & Mellis, C.M. (1998).Epidemiology of asthma and geographic varia-tions. 7th International Conference on EmergencyMedicine, Vancouver.

Browne, G.J., & McIntyre, P.B. (1998).Disposition and follow-up of febrile childrenand infants in the emergency department. 7thInternational Conference on Emergency Medicine,Vancouver.

Browne, G.J., Cass, D.T., Ross, F., & Lam, L.(1998). Prevention in paediatric injury. 7thInternational Conference on Emergency Medicine,Vancouver.

Browne, G.J. (1998). Early evolution of obser-vation wards in Australian general hospital.Observation Medicine Conference, Dallas.

Browne, G.J. (1998). Short stay facilities: Thefuture of efficient paediatric emergency servic-es. Observation Medicine Conference, Dallas.

Brunsdon, R.K., & Coltheart, M. (1998).Tactile reading in neglect dyslexia. AustralianJournal of Psychology, 50, 135.

Carpenter, K., Wiley, V., Sim, K., & Wilcken, B.(1998). Problems and pitfalls in acylcarnitineanalysis by electrospray tandem mass spec-trometry. Human Genetics Society ofAustralasia/Australasian Society for InbornErrors of Metabolism Annual Scientific Meeting,Melbourne.

Carr, D., & Merrick, J. (1998). Long termeffects of treatment in childhood lymphoma.Society International Oncology PaediatricMeeting, Istanbul.

Chaitow, J., Seton, C., & Smith, A. (1998).PWS in a premature baby. 3rd InternationalPrader Willi Syndrome Organisation ScientificConference, Venice.

Chard, R. (1998). The extracardiac conduitfontan procedure. Innovation & AchievementConference, Sydney.

Cheng S, Hobson L, & Higgins GM. (1998).Standard formula TPN for kids - Myth or reali-ty. Society for Hospital Pharmacists Associationstate branch conference, Gosford.

Chin C, & Betteridge K. (1998). The use ofgrowth hormone in children with severe burns.4th Annual Neonatal Paediatric PharmacistsGroup Conference, Dublin.

Christodoulou, J., Williams, A.J., Murrell, M.J.,Brammah, S., & Minchenko, J. (1998). Utilityof rhodamine 6G (R6G) in assessing the modeof inheritance in mitochondrial respiratorychain disorders. American Journal of HumanGenetics, 63, A264.

Christodoulou, J., Colley, A., McQuade, L.,Sachdev, R., & Wilson, M.J. (1998). The 22qdeletion disorders: an evolving phenotype.Human Genetics Society of Australasia 22ndAnnual Scientific Meeting, Melbourne.

Christodoulou, J., Williams, G.D., Stack, J.,Symons, P., Wert, S.E., Murrell, M.J., & Nogee,L.M. (1998). Genetic analysis of a case of sur-factant protein B deficiency. Human GeneticsSociety of Australasia/Australasian Society ofInborn Errors of Metabolism Annual ScientificMeeting, Melbourne.

Cocks, A.J., Gillis, J., & Choong, R.K. (1998).A brave new world: computer assisted learn-ing. Joint Scientific Meeting Royal AustralianCollege of Physicians-Australian College ofPhysicians, Melbourne.

Codarini, M., & Kakakios, A. (1998).Challenging food allergy. Australasian Societyof Clinical Immunology and Allergy 9th AnnualScientific Meeting, Brisbane.


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publicationsCodarini, M. (1998). Primary immunodeficien-cy disorders in Australian children, 1997.Australian Paediatric Surveillance Unit ScientificMeeting, Adelaide.

Constantin, E., Waters, K.A., Morielli, A., &Brouillette, R.T. (1998). How often do prema-ture infants adopt the face-down positions?American Journal of Respiratory and Critical CareMedicine, 157, A535.

Craig, J.C., Irwig, L.M., Ford, M., Willis, N.,Howman-Giles, R.B., Uren, R.F., Rossleigh,M.A., & Grunewald, S. (1998). Reliability ofDMSA for the diagnosis of kidney damage inchildren. American Society of Nephrology,Philadelphia.

Craig, J.C. (1998). Management of vesi-coureteric reflux - time for a change?Australian Association of ConsultantPhysicians/Royal Australian College ofPhysicians, Melbourne.

Craig, J.C., Wheeler, D., Irwig, L.M., &Howman-Giles, R.B. (1998). How accurate isDMSA scintigraphy for the diagnosis of acutepyelonephritis? A meta-analysis. AmericanSociety of Nephrology, Philadelphia.

Craig, M., Cowell, C., Wang, M., & Ambler, G.(1998). A meta-analysis of growth in idiopath-ic short stature (ISS) using ISS growth stan-dards. European Society of PaediatricEndocinology Meeting, Florence.

Cutler, L., Nunn, K., Donaghue, K., Kohn, M., &Silink, M. (1998). Development of a subjectivefuture impact of diabetes schedule (Fids) foryoung adults with IDDM. Royal Australian &New Zealand Child Psychiatry Annual ScientificMeeting, Sydney.

Cutler, L., Donaghue, K., Nunn, K., Kohn, M., &Silink, M. (1998). Psychological morbidity andhope in young adults with childhood onset type1 diabetes. Australasian Paediatric EndocrineGroup Annual Scientific Meeting, Perth.

Daniel, A., Malafiej, P., Cross, J., Nguyen, K.,Swainson, K., Piper, H., Jordan, M., &Polihronis, S. (1998). The frequency and clini-cal significance of mosaicism in in-situ amnio-cyte cultures. Human Genetics Society ofAustralia Bulletin, 11, 28.

Daniel, A., Oner, G., Turner, A., & Osborn, R.(1998). Campomelic dysplasia (McKusick211970) in an infant without Campomelia butwith a de novo translocationt(8;17)(q24.3;q25.1). Proceedings 5th JointClinical Genetics Meeting, Los Angeles.

Delaney, L., Joy, P., & Coltheart, M. (1998).Expressive aphasia in a three year old with ahypothalamic astrocytoma: A case study andanalysis of a cognitive neuropsychologicaltreatment program. Australian Journal ofPsychology, 50, 138.

Diao, J., Rowe, P., Smythe, J., & Alexander, I.E.(1998). Induction of antigen-specific CTLresponses against a vector encoded model anti-gen by human PBMC-derived dendritic cells fol-lowing adenoviral transduction. The AmericanSociety of Gene Therapy 1st Annual Meeting,Seattle.

Dias, L.S., Schell, D.N., Nunn, G.R., & Burcher,E. (1998). Localisatation of endothelin andtachykinin receptors in the cardiopulmonarycirculation of children with congenital heartdisease. International Society for Heart ResearchAustralasian Section Annual Scientific Meeting,Sydney.

Dias, L.S., Schell, D.N., Nunn, G.R., & Burcher,E. (1998). Localisation of peptide receptors inchildren with pulmonary hypertension second-ary to congenital heart disease. High BloodPressure Research Council of Australia AnnualMeeting, Melbourne.

Dias, L.S., Schell, D.N., Nunn, G.R., & Burcher,E. (1998). Localisation of endothelin andtachykinin receptors in the cardiopulmonarycirculation of children with congenital heartdisease. University of Sydney CardiovascularSymposium, Sydney.

Dittmer, J. (1998). Video recording systems forcardiac surgery. Innovation & AchievementConference, Sydney.

Dixon, G., Badawi, N., Kurinczuk, J.J.,Pemberton, P.J., Vukovich, S., & Stanley, F.J.(1998). Early developmental outcomes follow-ing newborn encephalopathy. Perinatal Societyof Australia and New Zealand, Second AnnualCongress, Alice Springs.

Donaghue, K., Chan, A., Fairchild, J.M., Hing, S.,Howard, N.J., & Silink, M. (1998). Diabetes dura-tion and complications: Are all ages at equal risk?International Society for Paediatric and AdolescentDiabetes Annual Scientific Meeting, Stockholm.

Donaghue, K., Cusumano, J., Verge, C., Chan, A.,Fairchild, J.M., Hing, S., Crocker, M., Howard, N.J.,& Silink, M. (1998). Six year follow-up of a dia-betes in a NSW childhood incident cohort.Australasian Paediatric Endocrine Group AnnualScientific Meeting, Perth.

Donaghue, K., Chan, A., Fairchild, J.M., Hing,S., Crocker, M., Howard, N.J., & Silink, M.(1998). Transient diabetes microvascular com-plications in Prepubertal children. InternationalSociety for Paediatric and Adolescent DiabetesAnnual Scientific Meeting, Stockholm.

Dowrick, M., Bailey, J.G., Parmenter, T., &Shaddock, T. (1998). Research, practice andadvancement-making school renewal effectiveusing a multi-attribute evaluation outcomesapproach. The 22nd National Conference of TheAustralian Association of Special Education Inc,Canberra.

Dudding, T., Wilcken, B., Burgess, B., Hambly,J., & Turner, G. (1998). Reproductive decisionsmade by couples following neonatal identifica-tion of cystic fibrosis by newborn screening.Human Genetics Society of Australasia/Australasian Society for Inborn Errors ofMetabolism Annual Scientific Meeting,Melbourne.

Duncan, C., Blimkie, C., Kemp, A., Briody, J.,Burke, S., Woodhead, H., Cowell, C., &Howman-Giles, R. (1998). Mechanical loaddistribution patterns and bone mineral in eliteadolescent female athletes. Bone 23, 475.

Dunglison, G., Yang, N., Corbett, M., Robinson,C., Joya, J., Kim, S., Gunning, P., North, K., &Hardeman, E. (1998). Transgenic miceexpressing a mutation in -tropomyosinSLOWreveal a pathological phenotype consistentwith human nemaline myopathy. InternationalNeuromuscular Congress, Adelaide.

Dunglison, G., Yang, N., Corbett, M., Robinson,C., Joya, J., Kim, S., Gunning, P., North, K., &Hardeman, E. (1998). Transgenic miceexpressing a mutaion in -tropomyosinSLOWreveal a pathological phenotype consistentwith human nemaline myopathy. AustralianSociety for Medical Research, Hobart.

Edwards, A.M., Gillies, J., Van Asperen, P., Sly,P., & Weinberg, E. (1998). Children benefitfrom early use of inhaled nedocromil sodium.European Respiratory Journal, 12, 89S.

Elliott, E., Henning, P., Hogg, G., Knight, J.,O'Loughlin, E., Powell, H., Robins-Browne, R.,& Redmond, D. (1998). HUS: Epidemiologyand outcome of endemic versus epidemic dis-ease. Australian New Zealand Journal Medicine,28, 711.

Elliott, E., Henning, P., Hogg, G., Knight, J.,O'Loughlin, E., Powell, H., Robins-Browne, R.,& Redmond, D. (1998). Role of shiga-toxin-producing E.coli in HUS in Australia.Australian New Zealand Journal Medicine, 28,721.

Elliott, E., Robins-Browne, R., Hogg, G.,O'Loughlin, E., Henning, P., Knight, J., Powell,H., Redmond, D., Contributors to AustralianPaediatric Surveillance Unit. (1998). Outcomeof epidemic versus endemic haemolyticuraemic syndrome. Journal of PaediatricGastroenterology and Nutrition, 26, 543.

Fairchild, J., Ambler, G., Genoud-Lawton CH,Westman, E., Chan, A., Howard, N.J., & Crock,P.A. (1998). Insulin lispro versus Humulin R inChildren with IDDM on a twice daily insulinregimen: preliminary results. AustralasianPaediatric Endocrine Group Annual ScientificMeeting, Perth.

Fischer, G.O. (1998). Paediatric vulval disease.Annual Meeting of the British Society for theStudy of Vulval Disease, Oxford.

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Fung, D.C., Yu, B., Cheong, K.F., Smith, A., &Trent, R.J. (1998). Search for UBE3A muta-tions in patients with Angelman syndromeshown to be triple-non on previous genetic test-ing. Human Genetics Society of Australasia 22ndAnnual Scientific Meeting, Melbourne.

Garnett, S., Bradford, D., Lee, J., Tao, C.,Bladés, B., Esber, R., Altoumah, B., Meischke,M., Petrauskas, V., & Cowell, C. (1998). IDF-1, height, weight, body composition and birthsize in 7 year old children - preliminary resultsfrom the Nepean study. 7th Biennial IGFSymposium, Melbourne.

Garnett, S., Morgan, R., Meischke, M., Yu, T.,Clavano, A., Baur, L., Fay, R., Boulton, J., &Cowell, C. (1998). Birth size, abdominal fatand lipids in 7 year old chldren: results fromthe Nepean Study. International Journal ofObesity, 22 (Suppl 3), S200.

Gaskin, K.J., Georga, A., Waters, D., Massie, J.,Dorney, S., Gruca, M., Dutt, S., & Wilcken, B.(1998). Pancreatic sufficiency in cystic fibrosisinfants diagnosed by a neonatal immunoreac-tive trypsin/deltaF508 mutation screeningstrategy. Fifth International Conference onNeonatal Screening for Cystic Fibrosis, France.

Gaskin KJ. (1998). Pathophysiology of pancre-atic disease in cystic fibrosis. Twelfth AnnualNorth American Cystic Fibrosis Conference,Montreal.

Grayson, S., Batchelor, J., Joy, P., Lah, S., &Wilcken, B. (1998). Neuropsychological out-come in early treated galactosaemia: Amatched case control study. Australian Journalof Psychology, 50, 139.

Griggs, J., Spence, K., Ellercamp, C., & Jones,R. (1998). Breastfeeding practices in a chil-dren's hospital. Perinatal Society of Australiaand New Zealand, Second Annual Congress, AliceSprings.

Grissell, T., & Kesson, A.M. (1998). Cytokineproduction by HIV infected placentalmacrophages. Australian Society for HIVMedicine, Newcastle.

Guadiola, P., Socie, G., Pasquini, R., Dokal, I.,Ortega, J., van Weel-Sipman, M., Marsh, J.,Locatelli, F., Soillet, G., Cahn, J., Ljungman, P.,Miniero, R., Shaw, P., Vermylen, C.,Archimbaud, E., Bekassy, A., Krivan, G., DiBartolomeo, P., Bacugalupo, A., & Gluckman,E. (1998). Allogeneic stem cell transplantationfor Fanconi Anaemia. Bone Marrow Transplant.,21, S24-S27.

Halliday, R. (1998). Clinical information sys-tems database and query developments.Brisbane Critical Care Information SystemsSatellite symposium, Brisbane.

Hammond, J., Sim, K., Trenholm, A., Stanley,T., & Wilcken, B. (1998). Sudden infant death- Two New Zealand cases of carnitine/acylcar-nitine translocase deficiency. Human GeneticsSociety of Australasia/Australasian Society forInborn Errors of Metabolism Annual ScientificMeeting, Melbourne.

Hammond, J.W., Potter, M., Sim, K., &Wilcken, B. (1998). Reduced glutathione(GSH), g-glutamylcysteine (g-GluCys), cysteine(Cysh) and g-glutamylglutamine (g-GluGln) ing-GT deficiency. Journal of Inherited MetabolicDisease, 21, P69.

Hammond, J.W., Sim, K.G., Trenholm, A.,Stanley, T., & Wilcken, B. (1998). Suddendeath in infancy - two NZ cases ofcarnitine/acylcarnitine translocase deficiency.Journal of Inherited Metabolic Disease, 21, A119.

Hannan, T. (1998). Anxiety, depression andperceptions of control among primary schoolchildren. Second Annual Conference of the APSCollege of Educational & DevelopmentalPsychologists (NSW), Sydney.

Higgins, G.M., Templeton, F., & Ellaway, C.(1998). L-Carnitine: Does it offer benefits forfemales with Rett Sydrome? Society forHospital Pharmacists Association State Branchconference, Gosford.

Higgins, G.M., Saad, C., & Atkins, M.C. (1998).Lipid Formulation Amphotericin. Society forHospital Pharmacists Association State Branchconference, Gosford.

Higgins, G.M., & Sillence, D. (1998). Avoidingbroken bones in children with osteogenesisimperfecta. 4th Annual Neonatal PaediatricPharmacists Group Conference, Dublin.

Higgins, G.M., Coxon, L., & Longworth, J.(1998). On-call rosters; an alternative con-struction. Society for Hospital PharmacistsAssociation State Branch conference, Gosford.

Higgins, G.M., Samson, R., Chin, C., & Cheng,S. (1998). Liver transplantation for kids.Society for Hospital Pharmacists AssociationState Branch conference, Gosford.

Hogan, P.A. (1998). What's new in paediatricdermatology? Australasian College ofDermatologists Annual Meeting, Melbourne.

Howman-Giles, R.B., Craig, J.C., Uren, R.F.,White, G., Bernard, E., Ford, M., & Crisp, J.(1998). Variability in the interpretation ofDMSA scintigraphy and application of obliqueSPECT reconstruction. Society of NuclearMedicine 45th Annual Meeting, Toronto.

Ingrati, F., Garnett, S., Samman, S., & Cowell,C.T. (1998). Is zinc related to growth inAustralian children? Dieticians Association ofAustralia Meeting, Sydney.

Ip, L., Cheng, S., Hemmens, V., & Chin, C.(1998). Menigococcal septicaemia - a spec-trum of presentations, treatments and out-comes. Society for Hospital PharmacistsAssociation State Branch conference, Gosford.

Jaeggi, E.T., Sholler, G.F., Jones, O., & Cooper,S. (1998). Impact of fetal echocardiography onthe course of major congenital heart disease: Apopulation based study. American College ofCardiology Annual Scientific Meeting, Atlanta.

Jarvis, A., Sharma, P., Watson, N., & Smith, A.(1998). A case of jumping translocation inchildhood ALL. 4th Australasian Society ofCytogenetics Interim Meeting, Leura.

Jones, K., Kim, S., & North, K. (1998).Abnormalities of dystrophin, the sarcoglycansand merosin in the muscular dystrophies.Australian Association of Neurologists, Brisbane.

Jongeling, B., Badawi, N., Kurinczuk, J.J.,Pemberton, P.J., Thonell, S., Watson, L., &Stanley, F.J. (1998). Ultrasound as a predictorof adverse outcome in term newbornencephalopathy. Perinatal Society of Australiaand New Zealand, second annual congress, AliceSprings.

Joy, P. (1998). Amnesia and developmental dis-order. Australian Journal of Psychology, 50,140.

Joy, P., & Benson, S. (1998). A case study of aboy with perceptual and related disorders.Australian Journal of Psychology, 50, 140.

Kao, Y.L., Donaghue, K., Chan, A., Hing S,Knight, J., & Silink, M. (1998). Genetics ofDiabetic Retinopathy: Differences in thosediagnosed before 5 years of age. InternationalSociety for Paediatric and Adolecent DiabetesAnnual Scientific Meeting, Stockholm.

Kellie, S.J., de Graaf, S.S., Bloemhof, H., &Uges, D.D. (1998). Dose escalation of vin-cristine by continuous infusion in children withCNS tumors; feasibility and pharmocokinetics.Proceedings of 8th International Symposium onPediatric Neuro-oncology, Rome, 221.

Kendrick, L. (1998). Camp 'Go Ahead'. SpeechPathology Australia National Conference,Canberra.

Kendrick, L. (1998). Cognitive communicationimpairments in children with traumatic braininjury: assessment issues. Speech PathologyAustralia National Conference, Canberra.

Keogh, J.M., Badawi, N., Kurinczuk, J.J.,Burton, P.R., Jongeling, B., Pemberton, P.J., &Stanley, F.J. (1998). Fetal seizures in newbornencephalopathy. Perinatal Society of Australiaand New Zealand, Second Annual Congress, AliceSprings.

Kilpatrick, N., Christodoulou, J., & Wilcken, B.(1998). Oral health in children with phenylke-tonuria. Faculty of Medicine ResearchConference, Leura.

Kirk, E., & Wilson, M. (1998). Dominant inher-itance of cleft palate with minor abnormalitiesof hands and feet: a new syndrome? HumanGenetics Society of Australasia 22nd AnnualScientific Meeting, Melbourne.

Knight, J.F., Zhang, G., & Wu, H. (1998).Conserved T-cell receptor Vb CDR3 sequencesin IgA nephropathy biopsies. American Societyof Nephrology, Philadelphia.


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publicationsKnight, J.F., Zhang, G., & Wu, H. (1998).Conserved T-cell receptor CDR3 sequencesinvolved in allorecognition of mutant H-2 anti-gens. American Society of Nephrology,Philadelphia.

Koorey, D., Basha, N., Tomaras, C., Freiman, J.,Robson, L., & Smith, A. (1998). Acute appen-dicitis, appendiceal carcinoma, familial adeno-matosis polyposis and a de novo constitutionaltranslocation with submicroscopic deletion ofthe APC gene. Digestion, 59, 707.

Koorey, D., Robson, L., Freiman, J., Basha, N.,Tomaras, C., & Smith, A. (1998). A de novoconstitutional translocation in a patient withFAP; characterisation with FISH and DNAstudies. Royal College of Pathologists ofAustralia Annual Scientific Meeting, Brisbane.

Kotagal, P.K., & Bleasel, A. (1998).Nonepileptic paroxysmal disorders in children.American Academy of Neurology, 50th AnnualScientific Meeting.

Kumar, R., Smith, G.H.H., & Cohen, R.C.(1998). Outcome of children with pelviuretericjunction obstruction with acute renal failure.Australian New Zealand Journal of Surgery, 68,A113.

Lau, K.C. (1998). Radiofrequency ablation con-trol of arrhythmia prior to complex cardiacrepair. Innovation & Achievement Conference,Sydney.

Lawson, J.A., Bleasel, A., Stewart, I., Vogrin,S., Cook, M.J., & Bye, A.M. (1998). Loss ofcerebral, cerebellar and hippocampal volume inintractable childhood epilepsy. Epilepsia, 39,96-97.

Lawson, J.A., Haindl, W., Bleasel, A., Nguyen,W., Vogrin, S., Cook, M.J., Pereira, J.K., & Bye,A.M. (1998). Hippocampal asymmetry in child-hood epilepsy - Does a volumetric abnormalitycorrelate with ictal hyperperfusion demonstrat-ed by SPECT. Australian Association ofNeurologists Annual Scientific Meeting.

Levick, W., & Bakker, K. (1998). The amnesicsyndrome in children: A review. AustralianJournal of Psychology, 50, 142.

Li, Z., Elliott, E., Payne, J., & O'Loughlin, E.(1998). Altered epithelial secretion and per-meability during infection with adherent E.coliin T84 colon cancer cells. GastroenterologicalSociety of Australia, Canberra.

Little, Y., Kurinczuk, J.J., Badawi, N.,Pemberton, P.J., Downing, E., & O'Sullivan, F.(1998). Social disadvantage and its resourceimplications in neonates admitted to a tertiaryreferral unit. Perinatal Society of Australia andNew Zealand, Second Annual Congress, AliceSprings.

Logan, G., Smyth, C., Lees, J., Rowe, P.,Alexander, I.E., & Smythe, J. (1998). Immune-augmentation gene therapy for the treatment ofpaediatric cancer. The American Society of GeneTherapy 1st Annual Meeting, Seattle.

Longworth, J., Dossetor, D., & Nunn, K. (1998).Paediatric polypsychopharmacy. Society forHospital Pharmacists Association State BranchConference, Gosford.

Loughnan, G., Steinbeck, K.S., Richman, R.M.,& Smith, A. (1998). Care of adults withPrader-Willi syndrome - a clinical overview. 3rdInternational Prader Willi Syndrome OrganisationScientific Conference, Venice.

Mackay, S., Wallen, M., & Doyle, S. (1998).Upper limb, perceptual and self care outcomein children with traumatic brain injury: a con-trolled prospective study. OT Australia - NSW11th NSW Conference, NSW.

Mann, L., Crowe, P., & Morrison, A. (1998).Quality assurance in action: syringe pumperrors. 23rd Australian and New ZealandMeeting on Intensive Care, Adelaide.

Marshall, C., & Maxton, F. (1998). Intractablepain in burns: The New Children's Hospitalexperience. Australian and New Zealand BurnsAssociation, Sydney.

Marshall, C. (1999). Drug withdrawal in pae-diatric intensive care. 23rd Australian and NewZealand Scientific Meeting on Intensive Care,Adelaide.

Martin, H., Spalding, S., Andronicus, M., &Oates, R.K. (1998). Children "at risk" in aburns unit: detection and prevalence. BritishBurn Association 31st Annual Meeting, Sheffield.

Massie, R.J.H., Wilcken, B., Wiley, V., Gruca, M.,Van Asperen, P.P., & Gaskin, K.J. (1998).Pancreatic function in deltaF508 heterozygoteswith normal sweat electrolytes identified by new-born screening: 1995-1996. Journal of Paediatricsand Child Health, 34, A8.

Massie, R.J.H., Wilcken, B., Wiley, V., Gruca,M., Van Asperen, P.P., & Gaskin, K.J. (1998).Cystic Fibrosis mutation analysis in deltaF508heterozygotes with normal sweat electrolytesidentified by newborn screening: 1995-1996.Journal of Paediatrics and Child Health, 34, A9.

Matthews, K., Steinbeck, K., Sommerville, H.,Pearson, L., Stevens, M.M., & Saunders, D.(1998). Female survivors of childhood malig-nancy: reproductive and endocrine issues.Which patients are affected? Fertility Society ofAustralia Conference, Hobart.

Maxton, F., & Marshall, C. (1998). Securing anairway: Alternative approaches in pediatricintensive care. Australian and New ZealandBurns Association, Sydney.

McCahon, E., Nath, C.E., Shaw, P.J., Gunning, R.,McLachlan, A.J., & Earl, J.W. (1998). A random-ized comparison of adverse effects, efficacy andpharmacokinetics of amphotericin B in lipid anddextrose in children with cancer. ClinicalOncological Society of Australia, Sydney.

McGill, B., & Payten, E. (1998). The child's jour-ney of recovery from a traumatic injury (an occu-pational therapy approach). 12th InternationalCongress of the World Federation of OccupationalTherapists, Montreal.

McKay, K. (1998). Wall thickness and smoothmuscle area in infant airways. EuropeanRespiratory Journal, 12, 16S.

McQuade, L., Christodoulou, J., Sachdev, R.,Budarf, M., Emanuel, B., & Colley, A. (1998).Two further cases of 22q11.2 deletions with nooverlap to the DiGeorge Syndrome CriticalRegion. Human Genetics Society of Australasia22nd Annual Scientific Meeting, Melbourne.

Mihrshahi, S., Vanlaar, C., Tovey, E., & Peat,J.K. (1998). Effectiveness of house dust mitecontrol measures in infants beds: a randomisedcontrolled trial. Proceedings of the NationalAsthma Research Workshop, Sydney.

Miller, O., Tang, S.F., Pigott, N.B., Keech, A.C.,& Celermajer, D.S. (1998). Pulmonary hyper-tension after congenital heart surgery. AnnualScientific Meeting of the Cardiac Society ofAustralia and New Zealand, Perth.

Miller, O. (1998). Acute lung injury. 20thAnnual Congress Malaysian PaediatricAssociation, Malaysia.

Miller, O. (1998). Inhaled nitric oxide in paedi-atric intensive care and cardiology. 20thAnnual Congress Malaysian PaediatricAssociation, Malaysia.

Miller, O. (1998). Principles and practice ofmechanical ventilation. 20th Annual CongressMalaysian Paediatric Association, Malaysia.

Minchenko, J., McQuade, L., Bennetts, B., &Christodoulou, J. (1998). Mutation analysis inornithine transcarbamoylase deficiency.Human Genetics Society ofAustralasia/Australasian Society of Inborn Errorsof Metabolism Annual Scientific Meeting,Melbourne.

Morgan, L., De Jongh, R., Waters, K.A., VanAsperen, P.P., & Rutland, J. (1998). ClinicalDiagnosis of Primary Ciliary Dyskinesia.Australia and New Zealand Journal of Medicine,28, A287.

Morgan, R., Garnett, S., Meischke, M.,Boulton, T., Cowell, C., & Baur, L. (1998).Birth size, abdominal fat and lipids in 7 year oldchildren: results from the Nepean study.Australain Paediatric Research Society,Melbourne.

Nath, C.E., McLachlan, A.J., Shaw, P.J., Earl,J.W., & Gunning R. (1998). Effects ofAmphotericin B on renal function correlatewith Amphotericin B pharmacokinetics in chil-dren with malignant diseases. The AustralasianSociety of Clinical and ExperimentalPharmacologists and Toxicologists, Hobart.

Nath, C.E., McLachlan, A.J., Shaw, P.J.,Gunning, R., & Earl, J.W. (1998).Amphotericin B (AmB) pharmacokinetics anddose recommendations in children with malig-nant diseases. College of Health Sciences andMedical Foundation Research Conference, Leura.


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Nguyen, K., Daniel, A., Chia, N., Bennetts, B.,Cotton, C., Cross, J., & Kohlenberg, C. (1998).A trisomy 21 due to postzygotic isochromo-some 46,XX,i(21)(q10) with 46,XX result ini-tially at CVS. Human Genetics Society ofAustralia Bulletin, 11, 41.

Nielson, N., & Spence, K. (1998). The experi-ence of implementing and evaluating TheNewborn Individualised Developmental Careand Assessment Program (NIDCAP) in aneonatal nursery. Association of NeonatalNurses of New South Wales, Eleventh AnnualConference, Sydney.

North, K., Yang, N., Wattanasirichaigoo, D.,Mills, M., Kim, S., Tong, H., Easteal, S., &Beggs, A. (1998). Functional redundancy ofthe human skeletal muscle Actin-BindingProtein -Actinin-3. International NeuromuscularCongress, Adelaide.

North, K., Yang, N., Wattanasirichaigoo, D.,Mills, M., Kim, S., Tong, H., Easteal, S., &Beggs, A. (1998). Functional redundancy ofthe human skeletal muscle Actin-BindingProtein -Actinin-3. XVIIIth InternationalCongress of Genetics, Beijing.

North, K., He, Y., Jones, K., Morgan, G., Vignier,N., Hori, H., Mizuta, T., Tome, F., & Guicheney,P. (1998). A benign case of congenitalMuscular Dystrophy caused by mutations inLaminin 2 (Merosin). Australian Association ofNeurologists, Brisbane.

North, K., He, Y., Jones, K., Morgan, G., Vignier,N., Hori, H., Mizuta, T., Tome, F., & Guicheney,P. (1998). A benign case of congenitalMuscular Dystrophy caused by mutations inLaminin 2 (Merosin). International Neuromus-cular Congress, Adelaide.

Nunn, G. (1998). Novel approaches to atri-oventricular canal repair. Innovation &Achievement Conference, Sydney.

O'Connor, H., Baur, L., Davies, P., Storlien, L.,& Caterson, I. (1998). The effect of dexfenflu-ramine on energy expenditure. InternationalJournal of Obesity, 22 (Suppl 3), S277.

O'Flaherty, S.J. (1998). Botulinum toxin use incerebral palsy. Spasticity Experts Meeting, HongKong.

O'Loughlin, E., Williams, V., Elliott, E., Perry,M., & Smith, R. (1998). Urocortin reduces sys-temic blood pressure and intestinal microvas-cular flow in the rat. Gastroenterological Societyof Australia, Canberra.

Oates, R.K., Swanston, H., Shrimpton, S., &O'Toole, B. (1998). What happens to sexuallyabused children? 12th International Congress onChild Abuse and Neglect, Auckland.

Peters, G., Mahjoubi, F., O'Neill, G.,MacKenzie, H., Daniel, A., Hill, R., & Davey, R.(1998). Microdissection of amplified drugresistance genes. An approach to understand-ing drug resistance in cancer. Human GeneticsSociety of Australia Bulletin, 11, 27.Phan, T., Birkett, J., Schultze, D., McAnally, L.,

Somerville, E., & Bleasel, A. (1998).Hyperventilation induced seizures in partialepilepsy. Epilepsy Society of Australian AnnualScientific Meeting, Melbourne.

Pigott, N., Wilkins, B.H., O'Connell, A., &Miller, O. (1999). Organ donation rates in pae-diatric intensive care. Anaesthesia & IntensiveCare, 26, 433.

Psaila, K., Smith, J., Walton, G., Waters, D.,Tang, W., & Robinson, J. (1998). An evidence-based philosophy. Association of NeonatalNurses of New South Wales, Eleventh AnnualConference, Sydney.

Purvis-Smith, S., Kovacic, A., Cooke-Yarborough, C., Smith, A., Robertson, R., &Morgan, R. (1998). Trisomy 10p from anunbalanced segregation of a maternal centricfission - prenatal diagnosis in a family with cen-tric fission of chromosome 10. AustralasianSociety for Cytogenetics Annual ScientificMeeting, Melbourne.

Reddel, R.R., Bryan, T.M., Chang, A.C.-M.,Colgin, L., Dalla-Pozza, L., Dunham, M.A.,Englezou, A., Moy, E., Neumann, A., &O'Riordan, E. (1998). Genetic changes duringimmortalization of human cells. Proceedings ofthe American Association for Cancer Research,39, A3703.

Robson, L., & Smith, A. (1998). The CGH(comparative genomic hybridisation) experi-ence of an oncology cytogenetics laboratory.Genetics Society of Australasia Annual ScientificMeeting, Sydney.

Robson, L., Cooke-Yarborough, C., Arbuckle,S., Sharma, P., Watson, N., Shaw, P., & Smith,A. (1998). N-Myc amplification in neuroblas-toma. Royal College of Pathologists of AustraliaAnnual Scientific Meeting, Brisbane.

Robson, L., Sharma, P., Watson, N., Shaw, P., &Smith, A. (1998). N-myc amplification in neu-roblastoma - what are the criteria? HumanGenetics Society of Australasia 22nd AnnualScientific Meeting, Melbourne.

Robson, L., Sharma, P., Watson, N., & Smith,A. (1998). FISHing for BCR/ABL - some minor(break) points. 4th Australasian Society ofCytogenetics Interim Meeting, Leura.

Robson, L., Sharma, P., Watson, N., & Smith,A. (1998). Defining the fusion of bcr abd abl inPhiladelphia (Ph) chromosomes. EuropeanSociety of Human Genetics Annual ScientificMeeting, Portugal.

Rogers, M. (1998). Atopic dermatitis - practi-cal management issues. Paediatric Society ofNew Zealand Annual Meeting, Pamerston Nth.

Rogers, M. (1998). Epidermal naevi.Dermatology 2000, Singapore.

Rogers, M. (1998). Unusual napkin rashes.Paediatric Society of New Zealand AnnualMeeting, Pamerston Nth.

Rogers, M. (1998). Dermatitis artifacta in chil-dren. Paediatric Society of New Zealand AnnualMeeting, Pamerston Nth.

Rogers, M. (1998). Complicated haeman-giomas. Paediatric Society of New ZealandAnnual Meeting, Pamerston Nth.

Sachdev, R.K., Carpenter, K., Rosenberg, A., &Wilcken, B. (1998). Renal transplantation inmethylmalonic acidaemia. Human GeneticsSociety of Australasia/Australasian Society forInborn Errors of Metabolism Annual ScientificMeeting, Melbourne.

Schell, D.N. (1998). An overview of paediatricintensive care. 20th Annual Congress MalaysianPaediatric Association, Malaysia.

Schell, D.N. (1998). Information technology asa risk management tool. Joint Conference ofThe Royal Australian College of MedicalAdministrators and The Society of HospitalPharmacists of Australia, Sydney.

Schell, D.N. (1998). Ethical considerations inpaediatric intensive care. 20th Annual CongressMalaysian Paediatric Association, Malaysia.

Selvadurai, H., Van Asperen, P.P., Mellis, C.M.,Cooper, P.J., & Blimkie, C.J. (1998). A compar-ison of fitness versus static lung function meas-urements as indicators of disease severity inchildren with Cystic Fibrosis. PediatricPulmonology, A451.

Selvadurai, H., Van Asperen, P., Mellis, C.,Cooper, P., & Blimkie, C. (1998). Validation ofthe shuttle test in children with Cystic Fibrosis.Congress of International Pediatric Pulmonology,Monaco.

Sharathkumar, A., & Shaw, P.J. (1998).Ganciclovir induced neurotoxicity followingallogeneic bone marrow transplant (BMT).Clinical Oncological Society of Australia, Sydney.

Sharma, P., Watson, N., Robson, L., Gallo, J., &Smith, A. (1998). Acute myeloid leukaemiawith cytogenetic abnormality involving theshort and long arm of the same chormosome16. 4th Australasian Society of CytogeneticsInterim Meeting, Leura.

Shaw, P.J., & Afify, Z. (1998). Rapid taperingof cyclosporin to maximise the graft versusleukaemia effect. Bone Marrow Transplant, 21,S83.

Sheil, M., Sholler, G.F., Nunn, G., & Celermajer,D.S. (1998). Slowed myocardial transit ratesof albumin microbubbles are predictive of theneed for prolonged cardio-vascular support fol-lowing congenital heart surgery. CardiacSociety of Australia and New Zealand, Perth.

Sillence, D., Briody, J., Hall, J., Cowell, C., Ault,J.E., Howman-Giles, R., Wilson, M., Jarrett, K.,McGill, B., Higgins, G., & Hooper, M. (1998).Cyclic intravenous pamidronate therapy forosteogenesis imperfecta. Human GeneticsSociety of Australasia 22nd Annual ScientificMeeting, Melbourne.

publications


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publicationsSillence, D.O., Briody, J., Hall, J., Cowell, C.,Ault, J.E., Howman-Giles, R., Wilson, M.,Jarrett, K., McGill, B., Higgins, G., & Hooper,M. (1998). Intravenous pamidronatetherapyfor osteogenesis imperfecta. Human GeneticsSociety of Australia Bulletin, 11, 28.

Sim, K., Ip, W., Hammond, J., & Wilcken, B.(1998). Carnitine palmitoyl transferase I defi-ciency detected by digitonin-permeabilisedfibroblasts. Human Genetics Society ofAustralasia/Australasian Society for InbornErrors of Metabolism Annual Scientific Meeting,Melbourne.

Sim, K., Carpenter, K., Ip, W., Grech, K.,Hammond, J., & Wilcken, B. (1998). The diag-nosis of fatty acid oxidation defects by acylcar-nitine profiling in fibroblasts using electrospraymass spectrometry. Human Genetics Society ofAustralasia/Australasian Society for InbornErrors of Metabolism Annual Scientific Meeting,Melbourne.

Sim, K., Ip, W., Hammond, J., & Wilcken, B.(1998). A comparison of oleate and palmitateoxidation in fibroblasts: Improved detection offatty acid oxidation defects. Human GeneticsSociety of Australasia/Australasian Society forInborn Errors of Metabolism Annual ScientificMeeting, Melbourne.

Simons, M., Dawson, H., Hendy, J., & Epps, A.(1998). Investigating sexuality in children andadolescents with acquired brain injury - out-comes of innovative research. Third AnnualBrain Injury Rehabilitation Research Forum,Sydney.

Simons, M., Dawson, H., Hendy, J., & Epps, A.(1998). Outcomes of research in paediatricbrain injury: the development of a sexualityresource booklet for carers and serviceproviders. 2nd International Conference onSocial Work in Health and Mental Health,Mebourne.

Sintchenko, V., Leach, W., O'Loughlin, E., &Gilbert, L. (1998). Shiga-like toxin-producingEschericha coli infection in children with diar-rhoea presenting to a Sydney hospital: Aprospective study. National Conference onCommunicable Diseases in Australia.

Smith, A., Haan, E., Warne, G., Montgomery, P.,Macmillan, J., Elliott, E., & Williams, K.(1998). Prader-Willi Syndrome: A new study ofthe Australian Paediatric Surveillance Unit.Journal European Society of Human Genetics, 6,67.

Smith, A. (1998). Minimal Residual Disease(MRD) and FISH. Workshop on MinimalResidual Disease in Leukaemia and Lymphoma,Heidelberg.

Smith, A. (1998). The cytogenetics of malig-nant lymphoma: review of 175 referrals. 4thAustralasian Society of Cytogenetics InterimMeeting, Leura.

Smith, A., Sharma, P., Watson, N., Shaw, P., &Robson, L. (1998). What constitutes N-MYCamplification using FISH in neuroblastoma?European Society of Human Genetics AnnualScientific Meeting, Portugal.

Smyth, C., Logan, G., Weinberger, R., Rowe, P.,Alexander, I.E., & Smythe, J. (1998).Identification of a dynamic intracellular reser-voir of CD86 protein in peripheral blood mono-cytes that is not associated with the Golgi com-plex. The American Society of Gene Therapy 1stAnnual Meeting, Seattle.

Sokol, J., Woodhead, H., & Ambler, G. (1998).Hyperphosphatemia in vitamin D deficient rick-ets in infancy. Australasian Paediatric EndocrineGroup Annual Scientific Meeting, Perth.

Sommerville, H., Steinbeck, K., Stevens, G.,Delbridge, L., & Stevens, M.M. (1998).Thyroid disorders in long-term survivors ofchildhood cancer. International Conference: LateEffects of Childhood Malignancy, Ontario.

Sommerville, H., Matthews, K., Steinbeck, K.,Pearson, L., & Stevens, M.M. (1998).Endocrine and reproductive issues for femalesurvivors of cancer treated in childhood andadolescence: The Australian experience.International Conference: Late Effects ofChildhood Malignancy, Ontario.

Spence, K. (1998). Postgraduate specialisteducation. A professional model. PostgraduateNurse Education and Employment Conference,Melbourne.

Steinbeck, K.S., Baur, L.A., Bogaert, N., &Bermingham, M.A. (1998). Does activity pre-dict childhood weight gain? Proceedings of thePhysical Activity and Obesity Satellite Meeting,Maastricht.

Steinbeck, K.S., Byrnes, S.E., Bermingham,M.A., Brock, K., & Baur, L.A. (1998). Leptinas a predictor of weight gain in prepubertalchildren. International Journal of Obesity, 22(Suppl 3), S200.

Steinbeck, K.S., Baur, L.A., Bogaert, N., &Bermingham, M.A. (1998). Lipid predictors ofchildhood weight gain. International Journal ofObesity, 22 (Suppl 4), S23.

Stormon, M.O., Gaskin, K.J., O'Loughlin, E.V.,Dorney, S., & Kamath, K.R. (1998). Modernexperience of infantile cholestasis - a 12 yearreview. Journal of Paediatrics and Child Health,34, A19.

Stormon, M.O., Mellis, C.M., Van Asperen, P.P.,& Kilham, H.A. (1998). Outcome evaluation ofearly discharge of asthmatic children from hos-pital. A randomised controlled trial. Journal ofPaediatrics and Child Health, 34, A9.

Summers, K.M., Xu, D., West, M.J., McGill, J.J.,Whight, C., Colley, A., Sreetharan, D., & Adés,L.C. (1998). Marfan syndrome with severemuscle weakness and a novel mutation in exon25 of the FBN1 gene. Human Genetics Society ofAustralasia 22nd Annual Scientific Meeting,Melbourne.

Swanston, H., Shrimpton, S., Parkinson, P.,Oates, R.K., & O'Toole, B. (1998). Child sexu-al abuse and the system: Case, compensationand crime. 12th International Congress on ChildAbuse and Neglect, Auckland.

Tembe, V., Sharma, P., Watson, N., & Smith, A.(1998). Two translocations present together:the follicular lymphoma t(14;18) and theBurkitts lymphoma t(8;22) in two cases ofsmall cell cleaved lymphoma and follicular cen-tre cell lymphoma. Australasian Society forCytogenetics Annual Scientific Meeting,Melbourne.

Templeton, C., & Donald, L. (1998). Healingthe patient - Healing the family. 10th Congressof the International Society of Burn Injuries,Israel.

Tepper, H., & Bakker, K. (1998). Children andadolescents with an acquired brain injury: aspecialist service. Rehabilitation "WorkingTogether" Conference, Auckland.

Thompson, S., Wilcken, B., & Christodoulou, J.(1998). Dietary management of long chain 3-hydroxy acyl CoA dehydrogenase deficiency(LCHAD). Human Genetics Society ofAustralasia/ Australasian Society for InbornErrors of Metabolism Annual Scientific Meeting,Melbourne.

Turnpenny, P.D., Bulman, M.P., Frayling, T.M.,Abu-Nasia, K., Garrett, C., Sillence, D.O.,Hattersley, A.T., & Ellard, P. (1998).Homozygosity mapping in 2 consanguineousfamilies locates a gene for autosomal recessivespondylocostal dysostosis to chromosome19q13.1-13.3 but ARSD is clinically and genet-ically heterogeneous. American Journal ofHuman Genetics, 63 (Suppl), 1806.

Waters, D., Wilcken, B., Irwig, .L, Van Asperen,P., Mellis, C., Simpson, J.M., Brown, J., &Gaskin, K.J. (1998). The clinical outcomes ofneonatal screening for CF in New South Wales,Australia. Fifth International Conference onNeonatal Screening for Cystic Fibrosis, France.

Waters, K.A., & Tinworth, K. (1998). Effectsof cycle-time on the sequelae of repetitivehypercapnic-hypoxia in piglets. AmericanJournal of Respiratory and Critical Care Medicine,157, A450.

Watson, N., Sharma, P., Tembe, V., & Smith, A.(1998). Review of paediatric hyperdiploid ALL.Australasian Society for Cytogenetics AnnualScientific Meeting, Melbourne.

White, L., Kellie, S., Gray, E., Toogood, I.,Waters, K., Lockwood, L., Macfarlane, S., &Johnston, H. (1998). Post-operativechemotherapy in children less than 4 years ofage with malignant brain tumors: promisingresponse to a 'VETOPEC' based regimen.Proceedings of 8th International Symposium onPediatric Neuro-oncology, Rome.

Wilcken, B. (1998). Advances in newbornscreening (Invited). Twelfth Annual NorthAmerican CF Conference, Montreal.


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Wilcken, B., Wiley, V., Sherry, G., & Carpenter,K. (1998). The introduction of tandem mass-spectrometry to a routine newborn screeninglaboratory. North American Neonatal ScreeningMeeting, San Diego.

Wilcken, B., Wiley, V., & Bayliss, U. (1998).Ethical issues in newborn screening (Invited).International Society for Neonatal Screening,Chiang Mai.

Wilcken, B. (1998). Worldwide experience andcurrent issues in neonatal screening for cysticfibrosis (Invited). Fifth International Conferenceon Neonatal Screening for Cystic Fibrosis, France.

Wilcken, B., Carpenter, K., Dorney, S., & Shun,A. (1998). Liver transplantation in methyl-malonic aciduria. Journal of Inherited MetabolicDisease, 21, A83.

Wilcken, B., Wiley, V., Sherry, G., & Carpenter,K. (1998). Using tandem mass spectrometry ina routine newborn screening laboratory inAustralia. Journal of Inherited Metabolic Disease,21, P227.

Wiley, V., Carpenter, K., Sherry, G., & Wilcken,B. (1998). Newborn screening using tandemmass spectrometry. Human Genetics Society ofAustralasia/ Australasian Society for InbornErrors of Metabolism Annual Scientific Meeting,Melbourne.

Wilkins, B.H. (1998). Complications of centralvenous catheters in intensive care. 23rdAustralian and New Zealand Meeting on IntensiveCare, Adelaide, (abstract)

Williams, K., Elliott, E., Burgess, M., Hanna, J.,McDonald, A., D'Souza, R., Isaacs, D., &McIntyre, P. (1998). Role of the AustralianPaediatric Surveillance Unit in monitoring com-municable disease. Australian New ZealandJournal Medicine, 28, 709.

Woodhead, H., Blimke, C., Kemp, A., Briody, J.,Duncan, C., & Cowell, C.T. (1998). Mid-femoral bone geometry: reproducibility usingmagnetic resonance imaging & dual energy x-ray absorptiometry. Australasian PaediatricEndocrine Group Annual Scientific Meeting,Perth.

Woodhead, H., Blimkie, C., Kemp, A., Briody, J.,Duncan, C., & Cowell, C. (1998). Mid-femoralbone geometry: Validity and reproducibility ofMagnetic Resonance Imaging and Dual EnergyXray Absorptiometry measurements. Bone,23, S408.

Wu, H., Zhang, G., & Knight, J.F. (1998). T-cells specific for a synthetic Heymann nephritisRAP peptide preferentially use Vb18.Australian and New Zealand Society ofNephrology, Auckland.

Wu, H., Zhang, G., Clarkson, A.R., & Knight,J.F. (1998). Conserved T-cell receptor Vb CDR3sequences in IgA nephropathy biopsies. 6thInternational Symposium on IgA Nephropathy,Leiden.

Wu, H., Zhang, G., & Knight, J.F. (1998).Inhibition of proliferation of T-cell lines specif-ic for a synthetic Heymann nephritis RAP pep-tide by TCR antisense oligodeoxynucleotide.Australian and New Zealand Society ofNephrology, Auckland.

Zhang, G., Wu, H., & Knight, J.F. (1998).Restricted T-cell receptor repertoires involvedin allorecognition of mutant H-2 antigens.Transplant Society of Australian and NewZealand, Canberra.


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Department Section Page

Adolph Basser Cardiac Institute Heart and Blood Vessels 26

Anaesthesia Critically Ill Child 47

Heart and Blood Vessels 26

Kidneys and Bladder 31

Australian Paediatric Surveillance Unit (APSU) Population Health 60

Centre for Kidney Research Kidneys and Bladder 31

Child Protection Unit Population Health 60

Children’s Hospital Education Research Institute (CHERI) Development and Behaviour 53

Children's Chest Research Centre Lungs and Control of Breathing 36

Children's Hospital Institute of Sports Medicine (CHISM) Bones, Joints, Muscles and Skin38 38

Lungs and Control of Breathing 36

Clinical Epidemiology Unit Population Health 60

Dermatology Bones, Joints, Muscles and Skin 12

Emergency Critically Ill Child 47

Immune System and Infectious Diseases 27

Population Health 60

Gene Therapy Research Unit Molecular Medicine and Genetics 12

Immunology and Infectious Diseases Immune System and Infectious Diseases 27


Intestinal Disease Research Molecular Medicine and Genetics 12

James Fairfax Institute of Paediatric Nutrition Gastrointestinal System and Liver 22

National Centre for Immunisation Research and Surveillance of Vaccine Preventable Immune System and Infectious Diseases 27

Diseases (NCIRS) and The New Children's Hospital's Centre for Population Health 60


Neonatology and Grace Neonatal Nursery Critically Ill Child 47


Neurogenetics Research Unit Development and Behaviour 53

Molecular Medicine and Genetics 12

Nursing Academic Unit Critically Ill Child 47

Development and Behaviour 53


Occupational Therapy Brain and Nervous System 23


Oncology Cancer and Leukaemia 41

Critically Ill Child 47


Oncology Research Unit Cancer and Leukaemia 41

Orthopaedic Surgery Bones, Joints, Muscle and Skin 38

Paediatric Intensive Care Unit Critically Ill Child 47

Heart and Blood Vessels 26



index of departments


101

Department Section Page

Physiotherapy Brain and Nervous System 23

Critically Ill Child 47

Psychological Medicine Development and Behaviour 53


Psychology Brain and Nervous System 23


Ray Williams Institute of Paediatric Endocrinology, Diabetes and Metabolism Bones, Joints, Muscle and Skin 38

Diabetes and Metabolism 46



Rehabilitation Brain and Nervous System 23

Bones, Joints, Muscle and Skin 38


Social Work Brain and Nervous System 23


Speech Pathology Brain and Nervous System 23



Surgical Research Molecular Medicine and Genetics 12


T.Y. Nelson Department of Neurology and Neurosurgery Brain and Nervous System 23


The Institute of Pathology Bones, Joints, Muscle and Skin 38

(Departments of Biochemistry, Blood Bank, Haematology, Cancer and Leukaemia 41

Histopathology, Microbiology, Virology) Immune System and Infectious Disease 27



University Department of Paediatrics and Child Health Bones, Joints, Muscle and Skin 38


Gastrointestinal System and Liver 22



Urology Gastrointestinal System and Liver 22


Western Sydney Genetics Program Bones, Joints, Muscle and Skin 38

Brain and Nervous System 23

Cancer and Leukaemia 41




index of departments

acknowledgementsRESEARCH REPORT 1999

102

This report was compiled and edited by...

ANNE O’NEILL

KATHRYN HANCOX

PETER GUNNING

REEGAN OXLEY

Thank You...

BIG COLOUR IMAGING, SYDNEY AUSTRALIA.

FOR CONCEPT, PHOTOGRAPHY, DESIGN, PRODUCTION AND TYPESETTING

SNR CONSTABLE JASON WIGFALL, GRANVILLE POLICE STATION

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RON AND CINDY WENBAN, USE OF LOCATION

CLEM AND DULCIE LUNG, USE OF LOCATION

The Models...

JEDA ABDULLAH

OSNER CEMRE ABDULLAH

JESSICA BARTER

BIANCA LIGONIS

VONNIEL OLA-ROBERTS

ALEXANDRA SREDOJEVIC

CHRISTINE SUE

NICOLAS WENBAN

ELLE WENBAN

PRODUCED BY THE RESEARCH AND DEVELOPMENT OFFICE OF THE NEW CHILDREN’S HOSPITAL

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