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Biomedical subjects

E Passarge

Publications and source records attributed to E Passarge.

At least 109 records · Page 6Linked to original sources
PubMed1975

Toxicity of antibiotics on cultured human skin fibroblasts.

Human diploid fibroblasts cultured in Dulbecco's Modified Eagle's medium (DME) were exposed to different concentrations of 15 antibiotics to determine the limiting toxic concentration. The number of cells surviving after antibiotic treatment was given as the index of toxicity. No visible chromosomal damage could be detected when half the maximal toxic concentration was applied. The maximum limiting concentration was found to be the same for both the preconfluent and postconfluent phases.

Aminoglycosides↗
PubMed1975

Derivative chromosomal structures from a ring chromsome 4.

This report describes the results from cultured lymphocytes studied at metaphase, anaphase, and interphase from an individual with a ring chromosome 4. A ring was present in 90.1% of metaphases. Special attention was directed towards the occurrence of derivative chromosomal structures, such as partially duplicated and triplicated rings, tricentric rings, chains of 3 interlocked rings, rod-shaped chromosomes, "pulverized" rings, and others. The clinical features of the individual (small stature and impaired mental development, hypoplastic thumbs, ptosis palpebrae hypoplastic external male genitalia, abnormal dermatoglphic pattern) did not conform to a specific phenotype.

Blood Group Antigens↗
PubMed1975

Heterozygote tests and genetic counseling in maple syrup urine disease: an application of Baye's theorem.

The discriminatory power of a quantitative heterozygote test for Maple Syrup Urine Disease (MSUD) which we have been using is analyzed on the presumption that a single rare mutant allele is involved in MSUD. Bayes theorem then predicts that only a small portion of persons from the general population with activities in the heterozygous range really are heterozygotes. In addition, overlap of heterozygous and normal homozygous activity distributions requires rather high activities in first-cousin matings of a patient's sib in order to obviate the necessity for prenatal diagnosis. Thus, the principle emerges that quantitative heterozygote tests for rare autosomal recessive diseases cannot fulfill the task they were designed for.

Bayes Theorem↗
PubMed1975

Alpha1-antitrypsin phenotypes in sex chromosome mosaicism.

We report the alpha1-antitrypsin phenotypes of 21 patients with sex chromosome mosaicism and their parents. The proportion of heterozygotes in the group of parents is significantly greater (p less than 0.01) than that proportion in both control groups. The maternal or paternal contribution to the statistical significance of this observation cannot be distinguished in our small sample of families.

Adolescent↗
PubMed1975

A patient with the Larsen syndrome.

A child with the Larsen syndrome is described. His multiple malformations included a flattened nasal bridge and other unusual facial features, a cleft palate, a poorly developed larynx and dislocations involving several joints.

Abnormalities, Multiple↗
PubMed1975

Leopard syndrome.

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Abnormalities, Multiple↗