Letter: Prenatal diagnosis, stillbirths, and the macerated fetus.
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Biomedical subjects
Publications and source records attributed to A D Bain.
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In 55 preterm infants dying from hyaline-membrane disease (H.M.D.) in 1971-74, infants with associated cerebral intraventricular haemorrhage (H.M.D./I.V.H.) had been given more intravascular sodium-bicarbonate solution, but the same proportions of cases with H.M.D. and H.M.D./I.V.H. received bicarbonate at the time of birth. Much of the sodium-bicarbonate solution given to H.M.D./I.V.H. infants was injected in response to the clinical effects of I.V.H. Maximum serum-sodium concentrations correlated with sodium-bicarbonate dosage but not I.V.H. The incidence of I.V.H. in preterm infants in 1971-74 was unchanged from 1956-59 when alkaline buffer treatment was not used. These findings do not suggest that sodium-bicarbonate therapy plays a major part in the pathogenesis of I.V.H.
Total and % A hexosaminidase were similar for primary cultures and later passages of amniotic fluid cells. The culture variables-through serial passage, within a passage and replicate primary cultures-resulted in some variation in total hexosaminidase, but an insignificant change in % A hexosaminidase. They are unlikely to give rise to any problems in the antenatal diagnosis of Sandhoff's and Tay-Sachs diseases.
A patient with sea-blue histiocytosis in spleen and bone marrow with an accompanying hyperlipidaemia is described. The hyperlipidaemia was due to an increase in "free" cholesterol, lecithin, and triglycerides. Despite these findings lecithin-cholesterol acyl transferase activity was normal. Although the precise biochemical defect was not identified, there was a failure of transport of cholesterol from chylomicrons in vitro. We propose that the sea-blue histiocyte is a marker, in some cases, of abnormal lipid metabolism.
Galactosylceramide beta-galactosidase (cerebrosidase) and nonspecific beta-galactosidase activities were measured in both cultured skin fibroblasts and leucocytes from a family with Krabbe's globoid cell leucodystrophy (GLD). The activities of these enzymes were also determined in cultured skin fibroblasts of a patient with GM1 gangliosidosis and in cultured amniotic fluid cells. While cerebrosidase activity was deficient in GLD fibroblasts and leucocytes, its activity in GM1 gangliosidosis fibroblasts was increased. Two forms of each enzyme were found on isoelectric focusing, but in the GM1 gangliosidosis fibroblasts, cerebrosidase activity occurred as a single but intermediate peak. The use of cultured cells in assessing isoenzyme abnormalities associated with certain neurolipidoses is discussed.
Palmar fascia from six men with Dupuytren's contracture has been grown in tissue-culture and examined cytogenetically; and in three of these cases skin was also studied. Four of the six cases showed mosaicism, but only in cultures of the fascia; the mosaicism was therefore unlikely to be an artefact. Since the abnormalities were inconsistent and absent from skin-cultures they are very unlikely to indicate any mechanism of inheritance. Similar chromosome abnormalities have been reported from experimentally induced tumours.
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