[The malignant degeneration of Gorham-Stout disease?].
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Aged↗
Biomedical subjects
J Neuweiler
Publications and source records attributed to J Neuweiler.
Isolation and characterization of a hypervariable region [D4S163] on chromosome 4.
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Chromosome Mapping↗
DNA linkage analysis and studies of the androgen receptor gene in a large kindred with complete androgen insensitivity.
DNA linkage analysis of the X chromosome and studies with cDNA probes specific for the androgen receptor gene were performed on the largest known kindred with the syndrome of complete androgen insensitivity. The affected subjects (XY) have absent binding of dihydrotestosterone to the androgen receptor (the receptor negative form of androgen insensitivity). In this kindred there was maternal transmission of the gene, with all affected males expressing complete genital feminization. Linkage analysis studies were conducted with two DNA probes, DXS1 and PGK1, localized to the Xq11-Xq13 region of the long arm of the X chromosome near the centromere. The results demonstrate linkage to the markers in the order of DXS1-(AR; PGK1), thus localizing the AR gene to an area between Xq11 and Xq13. Three cDNA probes that span various parts of the androgen receptor gene, including the DNA and steroid binding domain, were used to evaluate the androgen receptor gene in normal individuals, carrier mothers, and affected subjects. Identical restriction fragment patterns were found in all three groups studied. Thus the androgen receptor gene was present in affected subjects without detectable DNA polymorphism at the androgen binding domain. Therefore, despite complete absence of binding to the androgen receptor, the defect in the androgen receptor gene in this kindred is not the result of a gene deletion. The results point to a mutation or a small insertion/deletion as the probable cause of the syndrome.
Cell Line↗
[Problems of bacteriological diagnosis of lower respiratory infections using fiberbronchoscopic aspiration of secretions].
Different results have been observed in systematically analysing bacteriological cultures of (a) bronchial secretions aspirated during fiberoptic bronchoscopy and (b) of sputum. In a prospective study of 23 patients with chronic infections of the lower respiratory tract, bacteriological cultures of the sputum showed more bronchopathogenic strains than those of subsequently removed bronchial secretions. These different findings may be attributed to a bactericidal effect of topical anesthetics used during bronchoscopy. To evaluate the influence of anesthetics on the growth of microorganisms, several strains cultured from sputum specimens were exposed to various solutions of the most commonly used anesthetics. The growth of Haemophilus influenzae and Diplococcus pneumoniae was completely depressed by all the tested solutions and dilutions. Only Staphylococcus aureus and several strains of Enterobacteriaceae were resistant even to high concentrations of anesthetic solutions. The results suggest that specimens of bronchial secretions taken by routine fiberoptic techniques cannot be used for reliable bacteriological diagnosis of lower respiratory tract infections.
Anesthetics, Local↗