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Biomedical subjects

J A Witkowski

Publications and source records attributed to J A Witkowski.

At least 55 records · Page 3Linked to original sources
PubMed1989

Dystrophin-related muscular dystrophies.

The gene for the locus involved in Duchenne and Becker muscular dystrophies has been cloned and subject to intense analysis. The protein product of the locus is called dystrophin, and it has been shown to be associated with the muscle fiber membrane. The new knowledge of the molecular genetics of these disorders is being applied rapidly in clinical practice. Carrier detection and prenatal diagnosis have been revolutionized by the use of probes for the gene. These probes are also being employed to clarify cases where conventional clinical examination results in equivocal diagnoses. It is suggested that the disorders characterized by dystrophin abnormalities should be called dystrophin-related muscular dystrophies (DRMD). There are mouse and dog models for DRMD and these are being used to explore therapeutic strategies for treating DRMD patients.

Animals↗
PubMed1989

Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis.

The accuracy of DNA-based prenatal diagnosis of Duchenne muscular dystrophy (DMD) was determined by study of 174 families. Only 60% of families had a living affected male, and 63% had history of a single affected male. Prenatal diagnosis was declined by 47% of mothers whose DNA studies predicted a carrier risk below 2%, and none have had affected sons. Fetal risk was estimated prospectively by linkage analysis using intragenic and flanking RFLPs and retrospectively using dystrophin cDNA analysis for families whose linkage estimates lacked precision. Diagnostic accuracy was determined by comparing predictions with 40 male pregnancy outcomes. On the basis of linkage analysis, we anticipated 3.2 DMD males and observed 3.0. Retrospective cDNA analysis identified deletions in 2 of these 3 males. The combined use of linkage and cDNA deletion analysis provided a highly accurate method for prenatal diagnosis of DMD.

DNA↗
PubMed1988

Diagnosis of human heritable defects by recombinant DNA methods.

Recombinant DNA methods provide highly sensitive means for the detection of DNA alterations that lead to human disease mutations. In this paper I shall illustrate the approaches currently available and discuss new technologies that show promise of replacing the present methods. Medical diagnosis by means of recombinant DNA methods has an expanding role in clinical medicine.

DNA, Recombinant↗
PubMed1988

Treatment of cutaneous infections. Worldwide experience with ciprofloxacin.

Oral ciprofloxacin, a new fluorinated 4-quinolone, was evaluated in 795 patients with skin and skin structure infections. Ninety-four point one percent of the patients treated had clinical success with eradication of almost all of the offending bacteria. Ciprofloxacin has good activity against gram-positive organisms and excellent activity against gram-negative organisms. Side effects were few and not considered significant.

Adolescent↗
PubMed1987

Spreading behaviour of cultured fibroblasts from carriers of Duchenne muscular dystrophy.

Cultured skin fibroblasts from patients with Duchenne muscular dystrophy (DMD) are more sensitive than normal cells to prolonged exposure to the ionophore monensin. In a cell spreading assay in which cells were preincubated with monensin and subsequently allowed to adhere to and spread on a glass substratum in serum-free medium for 100 min, the mean transformed cell area of normal and DMD cells was 5.97 +/- 0.11 and 5.29 +/- 0.03, respectively. Cultured fibroblasts from carriers of DMD yielded a value of 5.59 +/- 0.03, which is intermediate between, and significantly different from, the values for both normal and DMD cultures. This result would be predicted on the basis of random X-chromosome inactivation in female carriers of this disorder. However, comparison of DMD carrier cell spreading data with data obtained from pooled and summated measurements taken from separate experiments using either normal or DMD fibroblasts suggest a more complex situation. Examination of the variance of the means of cell area for the true carrier population and the summated normal and DMD population provides evidence suggesting that some form of cellular interaction may occur between the two cell genotypes in culture.

Cell Adhesion↗