Biomedical subjects

M Zilibowitz

Publications and source records attributed to M Zilibowitz.

2 recordsLinked to original sources

PubMed1992

Using a computer database to record and evaluate a school screening service.

School screening has been taking place in New South Wales since 1907. The need for better monitoring of the school health service to determine the outcome of the screening process has been advocated frequently. This paper reports on the development of a computerized surveillance system which allows school screening to be evaluated on an ongoing basis. The results of the first year's use of the programme on a study population of children first screened in 1989 in a northern metropolitan area of Sydney demonstrate that the system is practical and effective when used by people with little or no prior computer knowledge. It plays a role in both improving follow-up of the screening process and the assessment of the service. The prevalence rate of new defects found was four per 100 children screened. Issues raised about the screening process from the data collected are also discussed.

Child↗

PubMed1980

Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27).

Males affected by one form of X-linked retardation possess the X-chromosomal marker fra(X)(q27) and are physically normal except for macro-orchidism. To relate possession of the marker X to phenotypic expression in female heterozygotes, we investigated 128 mildly retarded (IQ, 55 to 75) school-girls in Sydney, New South Wales, Australia. Seventy-two girls had no physical abnormalities and of these, five (7 per cent) carried the marker X. Investigation of relatives revealed retarded males in four of the five families. Pedigree and chromosomal analysis identified a further 18 heterozygotes; six were regarded as intellectually or educationally retarded. We conclude that expression of the X-linked mutation in female carriers contributes to mild mental retardation of girls, that those who are physically normal should be screened for the marker X, and that their relatives should be investigated in order to identify additional females with a high risk of conceiving affected males.

Child↗