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Biomedical subjects

B D Lake

Publications and source records attributed to B D Lake.

At least 127 records · Page 7Linked to original sources
PubMed1975

Zebra body myopathy. Clinical, histochemical and ultrastructural studies.

Clinical, electrophysiological and histological evidence is presented of a myopathy not previously described. The patient, aged 15 years, was generally weak and wasted. His condition probably began in utero, but abnormalities of the serum CPK and EMG did not become evident until adolescence. Wide variation in fibre diameter, vacuolation, calcification, increased endomysial connective tissue and intra-fibre splitting were prominent in muscle biopsy sections. Electron microscopy showed numerous rod bodies, fibre disorganisation with loss of Z-bands and occasional honeycomb structures. Frequent zebra bodies were present. Because of the large number of zebra bodies seen, the name "zebra body myopathy" is provisionally proposed.

Acid Phosphatase↗
PubMed1972

A case of G M2 gangliosidosis of late onset.

A case of G(M2)-gangliosidosis commencing by the age of 5 years is described, in which hyperacusis, dementia, and fits were prominent clinical features. In addition to the typical ganglioside pattern on thin layer chromatography and the presence of membranous bodies in electron microscopic studies and characteristic histology and histochemistry, there was biochemical evidence of a gross reduction in heat-labile hexosaminidase activity in white blood cells and brain. A younger unaffected sibling showed the same enzyme defect in white blood cells.

Age Factors↗
PubMed1971

Histochemical detection of the enzyme deficiency in blood films in Wolman's disease.

The clinical diagnosis of Wolman's disease (acid esterase deficiency) can be confirmed by a histochemical staining method using blood films. Acid esterase activity is found normally in lymphocytes, but in Wolman's disease only a very low level of activity can be detected. An intermediate level of activity was demonstrated in heterozygotes. The method may also be applicable in the prenatal detection of the disease.

Esterases↗