Biomedical subjects
Publications and source records attributed to J Kapras.
A genealogic analysis carried out in a neonate suffering from multicystic dysplasia of kidneys, pancreas and liver indivated an autosomal recessive type of heredity. Associated malformations of extremities with heterotaxis were present in hitherto undescribed combinations.
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The authores investigated 273 women who bore one or more children with birth defects. These defects were classified genetically as polygenic inherited. The authors describe the bases and results of preconceptional care as a method to reduce the risk of polygenic inherited birth defects.
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A higher incidence of chromosomal instability in the infertile population is widely recognized. An increased level of micronuclei has been shown to be a marker of chromosome damage. Therefore, micronuclei frequencies were assessed in cytokinesis-blocked lymphocytes of 130 patients (65 couples) with idiopathic infertility or with two or more spontaneous abortions, and 30 healthy fertile donors (15 couples). The frequency of micronucleated cells in the cohort with reproductive failure and healthy controls averaged 14.95+/-6.04 per 1000 and 10.60 +/-2.57 per 1000 (P<0.0001), respectively. When micronuclei frequency sums in particular couples (male + female) were analyzed in the same order, identical statistical significance was reached (P<0.0001). We found no effect of age or sex on micronuclei frequency. In summary, the cytokinesis-blocked micronuclei assay revealed increased micronucleus frequency in couples with infertility or two or more spontaneous abortions, suggesting a possible role of chromosomal instability in reproductive failure.