The authors present a brief literary review on the frequency and etiological factors of the opened spinal dysraphism. The importance of its echographic diagnosis is indicated by using indirect signs, mainly microcephaly, ventriculomegaly, cerebellar pathology ("a sign of the banana") and characteristic fronto-temporal configuration of the fetal encephalic cranium ("a sign of the lemon") up to 24 week's of gestation. Two cases of diagnosed spinal dysraphism during the second trimester of pregnancy with established indirect echographic signs, promoting active search for direct echographic image of this congenital defect of the neural tube, are described.
View Article and Find Full Text PDFSpontaneous genome mutations in ten patients with porphyria cutanea tarda (PCT) amounted to 1.02% as compared to 0.36% in the control group of healthy individuals (P less than 0.
View Article and Find Full Text PDFThe authors examined the routine variants (RV) of the karyotype of 100 clinically healthy newborns--49 girls and 51 boys. Secondary constriction of the long arm of one of the homologues of the chromosome I was found in 2% of the newborns; of the chromosome 9--in 4% of the chromosome 16--in 3%. Secondary constriction in both homologues was observed in the chromosome I in 1%; in the chromosome 9--in 1% and in the chromosome 16--4%.
View Article and Find Full Text PDFThe authors examined the frequency of cells with polyploidy-P, with amitot division-AD and with mitotic division-MD in 25 patients with schizophrenia and proven anticerebral autoimmune sensibilization by means of blast-transformation test-BS, in 20 partners of marriages with multiple spontaneous abortions and suspected isoimmunization-PCA as well as control group of 63 healthy adults and newborn infants. Simultaneous increase of the frequency of cells with polyploidy and amitotic division was established in patients with schizophrenia--1,16% of P and 0.40% AD in 4 women with spontaneous abortiosn -- 1.
View Article and Find Full Text PDFThe authors examined comparatively the frequencies of genomic, counted and structural chromosomal aberrations and associations of acrocentric chromosomes (AAC) in lymphocytic cultures from 35 phenotipic healthy newborns and 15 clinically healthy persons over 60 years of age. Polyploidy was found in 0,16% of the cells in the newborns and in 0,47% of the cells of the adults (0,1 greater than P greater than 0,05). Aneuploidy was established in 0% of the cells of the newborns and in 5,7% of those of the adults (P less than 0,05).
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