Browsing by Author "De Jong, G."

Now showing 1 - 7 of 7
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    The antenatal ultrasonographic detection of the Holt-Oram syndrome
    (Health and Medical Publishing Group -- HMPG, 1985-08) Muller, L. M.; De Jong, G.; Van Heerden, K. M. M.
    The Holt-Oram syndrome is an autosomal dominant disease with 100% penetrance. No correlation exists between the maternal clinical expression and that of the affected offspring. The syndrome includes a wide range of cardiac and skeletal malformations. Real-time ultrasound, with a detailed study of the fetal heart and skeletal system, can play a crucial role in the counselling of affected pregnant women. This study describes the ultrasonographic findings of 2 affected fetuses at risk (at 34 and 14 weeks' gestational age). Ultrasonography detected and correctly estimated the severity of the cardiac and skeletal expressions.
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    Balanced chromosome translocations and abnormal phenotypes. A report of 5 cases
    (Health & Medical Publishing Group, 1986-6) Van Heerden, K. M. M.; De Jong, G.; Fox, M. F.; Kotze, G. M.; Brusnicky, J.; Dietzsch, E.; Grobbelaar, J. J.; Retief, A. E.
    ENGLISH ABSTRACT: Five cases in which phenotypic abnormalities were found in association with apparent balanced chromosomal translocations are described. In 3 patients, one of the parents was found to be carrier of the same translocation. In a further patient, the translocation was shown to be de novo and in the remaining patient the father was not available for chromosome studies. In a review of the literature the breakpoints in 36 familial balanced translocations were compared with 40 de novo translocations (including the present cases) all associated with phenotypic abnormalities. No common translocation was found in these groups, but it was observed that chromosomes 4 and 5 were significantly more involved in de novo translocations than in familial translocations. The possible aetiology and implications for prenatal diagnosis are discussed.
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    Clinical trial of a milk formula for infants of low birth weight
    (Health & Medical Publishing Group, 1984) Thom, J. C.; De Jong, G.; Kotze, T. J. van N.
    An infant milk formula specially designed to meet the specific needs of the small premature infant was compared with a modified infant milk formula in common use. Healthy infants of very low birth weight were fed with either the specially designed infant milk formula or the standard modified infant milk formula. No statistically significant differences between the two groups of infants were found, although the weight gain, skinfold thickness, serum total protein, albumin and calcium values were marginally better at 28 days in the group fed with the specially designed formula.
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    First reported case of alpha-mannosidosis in the RSA
    (Health & Medical Publishing Group, 1992) De Jong, G.; Petersen, E. M.
    The first known case of α-mannosidosis in the RSA is reported. Presentation was classic, viz. delayed speech, kyphoscoliosis and hearing loss at the age of 4 years. Among the generally rare inherited lysosomal storage diseases, α-mannosidosis is regarded in Europe and the USA as one of the more common disorders. It is suggested that the apparent underdiagnosis in South Africa may stem from lack of clinical recognition of a condition, which is relatively simple to diagnose biochemically. The clinical and radiological features of the child are described in the hope that clinicians will develop an awareness of the disorder, and include it in the differential diagnosis of deaf children who may also have mild skeletal abnormalities. Antenatal diagnosis of this untreatable condition is possible, so the birth of further affected children in a family could be prevented.
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    Influence of perinatal care on stillbirths in patients of low socio-economic class
    (Health & Medical Publishing Group, 1988-07) De Jong, G.; Pattinson, R. C.; Odendaal, H. J.
    ENGLISH ABSTRACT: In a series of 12,587 deliveries in patients of low socio-economic class, there were 356 stillbirths; prospective analysis of these showed that 42.1% occurred in the 4.7% of cases in which the mother had received no antenatal care. When booked and unbooked patients were compared it was found that the rate of stillbirths due to infection and anoxia was significantly higher among unbooked patients, who also accounted for more intra-uterine deaths due to abruptio placentae and congenital abnormalities. We speculate that diet and nutrition might play a major part in the causation of these intra-uterine deaths.
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    Inherited colon cancers
    (Health & Medical Publishing Group, 2000) Goldberg, P. A.; Madden, M. V.; Harocopos, C.; Grobbelaar, J. J.; Kotze, M. J.; Marx, M. P.; De Jong, G.
    Grobbelaar et al.' and Ramesar et al.' (in this issue) have identified germline mutations in certain families with h"o different types of inherited colorectal cancers. This means that blood tests are now available in South Africa for clinical use in these particular families. Within the families these DNA-based tests can separate individuals with the mutation that causes cancer from those who do not have it. Those with a mutation may pass the family-specific mutation to their children.
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    Primary causes of total perinatally related wastage at Tygerberg Hospital
    (Health & Medical Publishing Group, 1989-01) Pattinson, R. C.; De Jong, G.; Theron, G. B.
    The primary obstetric cause of total perinatally related wastage (TPRW) (i.e. all antepartum or postpartum deaths of infants ≥ 500 g and who died before hospital discharge) was studied in a clearly defined population in the western Cape over a 1-year period. There were 302 deaths from 7,923 singletons and 31 deaths from 65 pairs of twins delivered from patients cared for by Tygerberg Hospital maternity services. Thirty per cent of the deaths were late abortions, 42% stillbirths, 18% early neonatal deaths, 7% late neonatal deaths and 4% perinatally related infant deaths. The major primary obstetric events leading to TPRW in singletons were antepartum haemorrhage (27,8%), spontaneous preterm labour (24,8%), unexplained intra-uterine deaths (11,9%), infections (9,3%) and fetal abnormalities (7,9%). Multiple pregnancies accounted for 9,3% of the TPRW of all deliveries. The cause, risk factors associated and methods of prevention of abruptio placentae, spontaneous preterm labour and infections should receive priority in perinatal research in the western Cape.