Carbamylphosphate synthetase-I deficiency in a newborn: survival after early diagnosis and therapy.
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Biomedical subjects
Publications and source records attributed to L M Ambani.
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Chromosome studies were carried out on the peripheral blood of nine diabetic patients treated with chlorpropamide, on nine healthy controls and on nine untreated diabetic controls. Data from each treated individual were compared with the mean of the pooled data from the two control groups. There was a statistically significant increase in the individual numbers of sister chromatid exchanges per metaphase in each of the patients treated with the drug compared with the mean of the pooled control values. There was no significant increase in the numbers of structural chromosomal aberrations in the treated patients compared with the controls.
Chromosome studies were carried out on the peripheral blood of 26 epilepsy patients treated with phenobarbital and/or diphenylhydantoin, on ten healthy controls and on eight untreated epileptic controls. There was a significant increase in the individual numbers of sister chromatid exchanges per metaphase for all the patients treated with drugs compared with the mean of the pooled values from all the controls. There was no significant increase in the number of chromosome aberrations in the treated patients compared with the controls. There were very few structural aberrations in either the treated patients or the controls.
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Ultrasonography was performed during the second trimester (17 weeks) in a pregnancy at risk for osteogenesis imperfecta congenita (OI). The scan showed that the femur was short, bent and dense. Radiologic examination of the fetus after interruption of pregnancy showed typical X-ray changes of OI.
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