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Biomedical subjects

W G Wilson

Publications and source records attributed to W G Wilson.

66 records · Page 4Linked to original sources
PubMed1981

Brief clinical report: early recognition of the Coffin-Lowry syndrome.

We report a 2-year-old male infant with the Coffin-Lowry syndrome, and describe the change in his clinical and radiographic manifestations during the first 2 years of life. Review of published cases of the Coffin-Lowry syndrome indicates that these manifestations are progressive, and that all of the associated characteristics may not be apparent in early childhood. The importance of continued evaluations of these patients and examination of relatives for mild manifestations is emphasized.

Abnormalities, Multiple↗
PubMed1980

Regulation of glucose-6-phosphate dehydrogenase. I. Intact red cells.

The intracellular levels of substates and products of G6PD were measured in normal human red cells that were incubated in a Krebs-Ringer buffer without methylene blue and with increasing amounts of methylene blue. The use of [1-14C]glucose and [2-14C]glucose allowed estimates of the rate at which the G6PD was functioning within the cell. Kinetic characteristics of the purified enzyme were determined in the same Krebs-Ringer buffer. G6PD of normal red cells exhibits two unusual properties. (1) The intracellular enzyme is under unexplained intracellular restraint that ranges from 200-fold (if most of the NADP is in the reduced form) to five-fold (if most of the NADP is in the oxidized form). When coupled with earlier reports, these findings suggest that unexplained intracellular restraint is common to both G6PD-normal and G6PD-deficient (A-) red cells, (2) A highly sigmoid curve is obtained when the rate of the intracellular enzyme is plotted against the ratio of oxidized NADP to total NADP. In contrast, a nearly straight line is obtained with the corresponding plot of the pure enzyme under similar conditions of buffer and substrate concentration.

Erythrocytes↗
PubMed1980

Regulation of glucose-6-phosphate dehydrogenase. II. Resealed red cell ghosts.

Resealed red cell ghosts were prepared at a final dilution of 1:325 from normal and G6PD-deficient cells. The activity of the HMS and concentrations of G6P, ATP, and total and reduced nictinamide adenine dinucleotide phosphate were determined after incubation in the presence of 0 and 100 micrometer methylene blue. The results indicate that the HMS is still under ununexplained restraint in the resealed cells but that the restraint has been reduced between twofold and fourfold from that observed in the intact normal red cells. The addition of various combinations of ATP, hexokinase, and methylene blue led to the demonstration that the unexplained restraint is not significantly correlated with levels of ATP or G6P. As with intact red cells, however, the explained restraint is greatest under conditions that cause the level of NADP+ to be low and that of NADPH to be high.

Erythrocyte Membrane↗
PubMed1979

The Langer-Giedion syndrome: report of a 22-year old woman.

A 22-year-old woman with the Langer-Giedion syndrome and delayed puberty is presented. Pertinent features include a bulbous nose, sparse hair, protruding ears, multiple cartilaginous exostoses, cone-shaped phalangeal epiphyses, short stature, microcephaly, and mental retardation. She is the oldest patient thus far described with this condition, and is compared to the ten previously published cases. The clinical course of patients with the Langer-Giedion syndrome and the possibility of malignant change in the exostoses have not been established.

Adult↗
PubMed1979

Familial spontaneous pneumothorax.

A family is described in which four persons in three generations suffered spontaneous pneumothoraces: a newborn, an infant, an adolescent, and an adult. Review of the literature reveals 61 reports of familial spontaneous pneumothorax in 22 families. The ratio of male to female cases is approximately 1.8. Affected parents and affected children (including affected fathers and sons) are seen in ten families, while affected siblings with unaffected parents are noted in 13 families. Consanguinity has not been reported. Although autosomal dominant inheritance has been suggested as an explanation of familial spontaneous pneumothorax, available pedigree data are not adequate for statistical analysis. Physicians should be aware of the familial occurrence of spontaneous pneumothorax so that members of such families may be appropriately managed when problems arise.

Adult↗
PubMed1972

Amphetamines.

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Amphetamine↗