INTRODUCTION
The year 1980 was notable for the initiation of a number of new areas of genetic research within the Department of Paediatrics. The appointment of Dr. Carry Grown brought a new level of expertise in enzymology and intermediary metabolism, led to identification of a number of rare inborn errors of metabolism on which new research projects were initiated and allowed more com- plete resolution of some research which had been in progress. Definition of the enzyme al fault in a disorder of valine metabolism which appears to lead to accumulation of a teratogenic chemical in the developing foetus was an exciting achievement. Dr. Cotton returned from sabbatical leave, bringing new methods of using mouse leratocarcinoma cell cultures for the study of cell differen- tiation. Dr. Julian Mercer completed setting up the recombinant DNA techniques required in the group and was able to demonstrate a dramatic increase in the production of metallothionein messenger RNA in response to copper injection in rats.
RESEARCH TOPICS IN PROGRESS A. GENETICS
1. Use of mouse spleen cell hybridoma antibody production for study of phenylalanine hydroxylase-R. G. H. Cotton, K. H. Choo.
2. Definition of basic defect in phenylketonuria —R. G. H . Cotton, K. H . Choo, D. M . Danks.
3. Isolation of messenger RNA for phenylalanine hydroxylase —J. F. B. Mercer, K. H. Choo.
4. Development of antibody techniques for enzyme purification —R. G. H. Cotton, K. H.
Choo.
5. Definition of enzyme defect in dihydropteridine reductase deficiency—F. Firgaira, R. G. H.
Cotton, K. H. Choo.
6. Diagnosis of malignant hyperphenylalaninacmia (tetrahydrobioperin deficiency) —F.
Firgaira, R. G. H . Cotton, D. M . Danks.
7. A new defect in human valine metabolism (0 hydroxy isobutyryl CoA acylase deficiency)-G. K. Brown, R. Truscott, R. G. H. Cotton, D. M . Danks.
8. A new defect in catabolism of dcoxyribose (deoxyribose-5-phosphate aldolase deficiency) —A. Chappcl, G. K. Brown, R. G. H . Cotton, D. M . Danks.
9. Precision two dimensional electrophoresis of cellular proteins — K. H. Choo, R. G. H.
Cotton.
10. Copper metabolism in mottled mice and in Menkes' syndrome —J. Camakaris (Genetics), D. M . Danks.
11. Copper metabolism in human and mouse cells in culture —J. Camakaris, D. M . Danks.
12. Lysyl oxidase in mottled mice and Menkes' syndrome-P. Royce, D. M . Danks.
13. Superoxide dismutase and cytochrome oxidase in mottled mice and Menkes' syndrome —J.
Camakaris, D. M . Danks.
14. Messenger RNA and DNA for metallothionein —J. F. B. Mercer, J. Camakaris.
15. Cellular copper metabolism in Wilson's disease —J. Camakaris, D. M . Danks.
16. A verbal-visual computer-based system of syndrome identification — D. B. Pitt, J. G. Rogers, D. M . Danks.
17. Evaluation of prenatal diagnosis —D. M . Danks, J. G. Rogers.
18. Cytogenetic studies in X-linked mental retardation —G. C. Webb, D. M . Danks.
19. Heritable variations in development of mouse embryonic carcinoma cells in culture — R. G. H . Cotton.
B. STUDIES IN GROWTH AND NUTRITION
1. Studies on skeletal muscle cell growth (protein synthesis and hormonal influences) —J.
Graystone, J. Field, D. B. Cheek.
2. Studies on zinc, copper and iron metabolism in Aboriginals with and without glucose in- tolerance—D. B. Cheek, N. Francis, A. B. Holt.
3. Studies on renal compensatory growth in the presence and absence of certain hormones —J.
Hutson, D. B. Cheek.
4. Studies on the fetal brain development of the macropod —A. B. Holt, D. B. Cheek.
5. Studies on factors or peptides which increase sulphate uptake into cartilage —N. McKern.
C. STUDIES IN ORTHOPAEDIC SURGERY 1. Biochemical studies of collagen in osteogenesis imperfecta — W. G. Cole.
D. STUDIES IN RENAL PHYSIOLOGY AND DISEASE
1. Relationship between renin and parathormone secretion — D. A. McCredie, H. R. Powell, E.
Rotenberg.
PAEDIATRICS 185 2. Renin responsiveness in renal failure —H. R. Powell, D. A. McCredie, E. Rotenberg.
3. Pathophysiological (actors and haemolylic-uraemic syndrome—H. R. Powell, D. A. Mc- Credie, E. Rotenberg.
4. Frusemide treatment in acute nephritis —H. R. Powell, D. A. McCredie, E. Rotenberg.
5. Captopril in severe hypertension —I). A. McCredie, E. Rotenberg, S. Denholm.
6. 25 hydroxy cholecakifcrol levels in blood of infanls —E. Rotenberg, D. A. McCredie, H. R.
Powell.
E. NEUROLOGICAL AND NEUROMUSCULAR STUDIES 1. Histochemical and ultrastructural studies on skeletal muscle —X. Dennett.
2. Histochemical and ultrastructural studies in thc mottled mouse—X. Dennett.
3. Auditory-verbal information processing in epileptic children — A. Buffrey (Psychology), I . J . Hopkins.
F. COMMUNITY PAEDIATRIC NEEDS
1. Epidemiological study of families with young children in a poor socio-economic, multi- ethnic municipality —H. E. Williams, A. Carmichael.
2. Survey of community paediatric needs—H. E. Williams, A. Carmichael.
G. NEONATAL PAEDIATRICS
1. Very low binh weight infant study — W. H. Kitchen, M . M . Ryan, A. Rickards, J. Astbury, J. V. Lisscnden, W. Russo, G. Keith.
2. Follow-up of babies born from pregnancies associated with low maternal excretion of oestriol —J. H. Drew.
3. Treatment of thc persistent fetal circulation syndrome in newborn infants with tolazolinc hydrochloride —J. B. Barson (Mercy Maternity), .1. H. Drew.
4. Studv of ihe effects on survival of immediate intubation at birth of infants with a birth weight of 501 to 1,500 g . - J . I I . Drew.
5. Study of late-onset convulsions in newborn infants—H. J. Goldberg.
6. Analysis of infants wilh massive pulmonary haemorrhage—P. D. Sly.
7. Causative factors in newborn infants with air leaks—P. D. Sly.
8. Hyperviscosity studies in newborn infants —.1. H. Drew.
9. Ultrasonographic studies for intracranial haemorrhage —J. H. Drew.
PUBLISHED WORK Chapters of Books
1. CHEEK, D. B. —Acrodvnia, in Brcnncmann's Practice of Paediatrics, Harper & Row, U.S.A.: (1980).
2. DANKS, D. M. — Genetic Considerations in A.I.D., in Artificial Insemination bv Donor, cd.
C. Wood, Brown Prior Anderson: 94-102 (1980).
3. DANKS, D. M. — Diagnosis of metabolic diseases after birth: neonatal screening and thc in- vestigation of symptomatic patients or babies al genetic risk, in Recent Advances in Paediatrics, ed. D. Hull, Pitman Press: 51-70 (1980).
Articles
4. CAMAKARIS, .1., ACKI.AND, L. and DANKS, D. M. — Phenotypic expression of Wilson's disease in cultured fibroblasts, ./. Inker. Metab. Dis., 3: I55-15S (1980).
5. CAMAKARIS, J., DANKS, D. M . , ACKI.AND, L., CARTWRIGHT, E., BORGER. P.
and COTTON, R. G. IE —Altered copper metabolism in culiured cells from human Menkes' svndromc and mottled mouse mutants, liioche/n. Genetics. 18: 117-131 (1980).
6. CHOO, K. H., COTTON, R. G. H. and DANKS, D. M. — Double-labelling and high preci- sion comparison of complex protein patterns on two dimensional polvacrylaminc gels.
Analvt. Biochem., 103: 33-38 (1980).
7. CHOO, K. H . , MYER, .1., COTTON, R. G. H., CAMAKARIS, J. and DANKS, D. M.
— Isolation of a phenylalanine hydroxylase stimulating monoclonal antibody by tai myeloma-rat spleen cell fusion. Biochem. J. 191: 665-668 (1980).
8. COTTON, R. G. H., JENNINGS, 1. G., CHOO, K. H. and FOWLER, K.-Isolation and characterisation of a mveloma-spleen cell hybrid producing antibodv lo phelvlalunine hyrox- ylase. Biochem. J., 191: 777-783 (1980).
9. DANKS. D. M . and COTTON, R. G. H.-Early diagnosis of hyperphenylalaninacmia due io telrahvdrobiopyterin deficiency (Malignant hvperphenylalaninaemia). ./. of Pediat., 96:
844-845 (1980).
10. DANKS, D. M.—Copper deficiency in man. Ciba Foundation Symposium: 209-221 (19S0).
11. DREW, J. H. and ARROYAVE, C. M . - T h e complement system of the newborn infant.
Biol. Neonate. 37: 209-217 (1980).
G
12. DREW, J. H. — Malformations: Incidence, aetiology, problems and possible association with infanls of multiple births. Med. J. Ausi., I : 49-50 (1980).
13. DRF.W, .1. H . , SATCHWEI.L, C. A., CARMAN, P. G. and BEISCHER, N. A. — Prospec- tive follow up of growth retarded infanls and of those from pregnancies complicated by low oestriol excretion. Singapore J. Obslel. Gvnaec., 2: 67-72 (1980).
14. HAIN, D., LEVERSHA, M., CAMPBELL, N., DANIEL, A., BARR, P. A. and ROGERS, .1. G.—The ascertainment and implications of an unbalanced translocation in the neonate.
Familial 1:15 translocation. Ausi. Paediai. J., 16: 196-200 (1980).
15. HOLT, A. B., SPARGO, R. M . , IVESON, J. B., FAULKNER, G. S. and CHEEK, D.
B. — Serum and plasma zinc, copper and iron concentrations in Aboriginal communities of North Western Australia. Am. J. of Clin. Nutrition, 33: 119-132 (1980).
16. HOPKINS, I . J., EARKAS-BARGETON, E., and LARROCHE, J. C.-Neonatal neuronal necrosis: its relationship to the distribution and maturation of oxidative enzymes of newborn cerebral and cerebellar cortex. Earlv Human Devel.. 4: 51-60 (1980).
17. KITCHEN, W. H., McDOUGALL, A. B. and NAYLOR, P'. D . - A longitudinal study of very low birthweight infanls. HI: Distance growih at eight vears of age. Develop. Med. and Child Neurol., 22: 163-171 (1980).
18. KITCHEN, W. H., RYAN, M . M . , RICKARDS, A., McDOUGALL, A. B., BILLSON, F.
A., KEIR, E. H. and NAYLOR, F. D. —A longitudinal study of very low birthweight in- fants. IV: An overview of performance at eight years of age. Develop. Med. and Child Neurol., 22: 172-188 (1980).
19. MANN, J. R., CAMAKARIS, J. and DANKS, D. M.-Copper metabolism in mottled mouse mutants —defective placental transfer of " C u to foetal brindled (Mob r) mice.
liiochem. J., 186: 629-631 (1980).
20. POWELL, H. R., McCREDIE, D. A. and ROTENBERG, E.-Response to frusemide in acute renal failure: Dissociation of renin and diuretic responses. Clin. Nephrol., 14: 55 (1980).
21. POWELL, H. R. and McCREDIE, D. A. — Essential fatty acid thcrapv in haemolytic- uraemic svndrome. Ausi. N.7.. .1. Med., 10: 483 (1980).
22. POWELL, H. R., McCREDIE, D. A., DENHOLM, S., ROTENBERG, E . - A simple method for studying intestinal absorption of calcium. Ausi. Paed. J., 16: 133 (1980).
23. ROGERS, J. G., ANDERSON, R. McD., CHOW, C. W., GILLAM, G. L. and MARKMAN, L. — Possible teratogenic effects of gold. Aust. Paediai. J., 16: 194-195(1980).
24. ROYCE, P. M . , CAMAKARIS, J. and DANKS, D. M.-Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome. Biochem. ./., 192: 579-586 (1980).
25. TRUSCOTT, R. .1. W., HALPERN, B., HAMMOND, J., HUNT, S., COTTON, R. G. H . , HAAN, E. A. and DANKS, D. M. —Abnormal deoxyribose metabolites in thc urine of a child with a possible new inborn error of metabolism. Biomed. Mass Spec, 6: 453-459 (1979).
26. WESTERMAN, R. A., CHAN, H. S., Z1CCONE, S. P., SR1RATANA, D., DENNETT', X., and TATE, K. A. — Plasticity of motor reinnervation in the kitten, in Neural Growih and Differentiation, Proc. H I IBRO Svm. on Developmental Neurobiology, eds. E. Meisamc and M.A.B. Brazier, Raven Press, New York: 397-432 (1980).
27. WILLIAMS, H. E.—Social change and child health in China over 22 years —a personal view. Aust. Paediair. ./., 16: 161-165 (1980).
28. WILLIAMS, H . E.-Trends in paediatric care. Aust. Paediat. J., 16: 2-3 (1980).
THESES PASSED FOR HIGHER DEGREES Doctor of Medicine
1. BROWN, T. C. K. — Tricyclic Antidepressant Overdosage in Children: Epidemiology, Prevention, and Ihe Management of Cardiovascular Complications.
Master of Science
2. BIRNER, R. — Chromosomal Location of Genes Coding for Human Immunoglobulin Pro- duction.
THESES IN PROGRESS PhD Theses in Progress
1. COLE, W. G — Study of Collagen in Inherited Connective Tissue Diseases.
2. DUNLOP, M. — Study of ihe Effects of Phosphodiesterase Inhibition by Caffeine on Eoelal and Neonatal Maturation.
3. FINGER, J. — Utility of 2-dimensional Electrophoretic Analysis of tissue in the Study of In- herited Diseases.
4. FT R E.R, M. A. — The Development of Class Specific Antibody Tests for the Management of A Her tic Disease in Childhood.
5. FIRGAIRA, F. — Studies on Human Dihydropteridine Reductase.
PAEDIATRICS 187 6. HERD, S. —Investigation of the Basic Defect in Human Menkes' Syndrome and Mottled
Mouse Mutants— Studies on Copper Binding Molecules.
1. .McKERN, N. — Studies on Somatomedin and Incorporation of Sulfate into Curtilage.
8. SHELTON, M. S. — The Effect of Serum Factors on the Microbicidal capacity of Human Granulocytes.
MD Theses in Progress
9. CARMICHAEL, A. —Epidemiology of Health and Illness in Young Families in Brunswick.
10. SHEFFIELD, L. J. - (Title of thesis not known at present).
MSc Theses in Progress
11. ALEXANDER, S. — Study of Altitudes to Food and Ealing Habits of Mothers of Obese and Normally Nourished Infants.
12. BLAKES', J. L. — Microbial Etiology of Neonatal Necrotising Enterocolitis.
13. HILL, M. — Erythrocyte Function in Type I Diabetes Mellitus: The Effects of Glucose and Glucose Metabolites.
14. MANN, J. — Copper Metabolism of Copper Deficient Mouse Mutants in Relationship to Menkes' Syndrome.
15. McCASKILL, A. C —Development and Investigation of an Animal Model of Asthma.
SUBSTANTIAL GRANTS RKCKIVEl) Grants have been received as follows:
NH & MRC.
Royal Children's Hospital Research Foundation.
Royal Children's Hospilal Research Grant Committee.
Department of Aboriginal Affairs.
Buckland Foundation.
Australian Kidney Foundation.
Apex Foundation for Research into Mental Retardation.
Department of Health —Research and Development Grant.
Mental Health Research Fund.
3AW Community Service Trust.