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Biomedical subjects

L Strauss

Publications and source records attributed to L Strauss.

At least 73 records · Page 4Linked to original sources
PubMed1977

Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.

A newborn infant with clinical and pathological findings typical trisomy 13 and 22 syndromes had an extra chromosome which was a derivative chromosome from maternal balanced translocation affecting Nos. 13 and 22; 47,XY,+der(22),t(13:22)(q22:q12)Mat. The presence of extra specific euchromatic regions of No. 13(13q22 and/or 13q34) and No. 22 (22q11) seem to be responsible for the trisomy 13 and 22 syndromes.

Abnormalities, Multiple↗
PubMed1976

Fucosidosis type 2.

Two siblings, 9 and 4 1/2 years old, had alpha-L-fucosidase deficiency, angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facila features, and dysostosis multiplex. It appears that genetic heterogeneity is present in fucosidosis; there are at least two types. In type 1, patients have no vascular lesions, but have rapid psychomotor regression, severe and rapidly progressing neurologic signs, elevated sodium and chloride excretion in the sweat, and fatal outcome before the sixth year. In type 2, patients have angiokeratoma, milder psychomotor retardation and neurologic signs, longer survival, and normal salinity in the sweat. Quantitative studies on erythrocytes and in saliva disclosed severely increased expressions of Lea and Leb. Biopsies of skin and gingiva showed alterations as seen in angiokeratoma. There was also evidence of lysosomal storage in vascular endothelium, eccrine sweat gland epithelium, and fibroblasts of the skin.

Adult↗
PubMed1976

Unilateral glomerulonephritis.

Three patients had unilateral glomerulonephritis. In two, the protected kidney was associated with stenosis of its renal artery, and in the third patient, a hydronephrotic kidney was spared. These clinical examples of unilateral glomerulonephritis and similar experimental models illustrate the effect of hemodynamic and hydrostatic influence in the manifestation of glomerulonephritis. Glomerulonephritis associated with unilateral arterial or ureteral disease may cause clinical confusion and error in diagnosis and treatment.

Adult↗
PubMed1974

Electron microscopic studies in hereditary nephritis.

A characteristic electron microscopic lesion-longitudinal splitting of the glomerular basement membranes with accumulation of dark particles-was found in some cases of hereditary nephritis, especially in Alport syndrome. A somewhat similar but less specific alteration was present in the tubular basement membranes and in the Bowman capsule. The lesions tended to exhibit a familial segregation. The possible pathogenesis of the lesions and their relation to physiologic abnormalities are briefly discussed.

Basement Membrane↗