[The indirect echographic signs in the prenatal diagnosis of spina bifida aperta in the second trimester of pregnancy. A report on 2 cases]. / Indirektni ekhografski priznatsi pri prenatalna diagnostika na spina bifida aperta vuv vtoriia trimestur na bremennostta. Prinos na dva sluchaia.

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.

Genome and chromosome mutations in porphyria cutanea tarda.

Spontaneous 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 0.01). Spontaneous structural chromosome aberrations in patients were seen in 2.39% of the examined cells versus 0.70% in the cells of controls (P less than 0.01). The increased percentage of cells with spontaneous genome and chromosome mutations in patients with PCT cannot be associated with alcohol only.

[RV polymorphism of the chromosomes in newborn infants]. / RV-polimorfizum na khromozomite u novorodeni.

The 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%. Secondary constriction of the short arm of both homologues was found only in the chromosome 16 in 3%. The large acrocentric chromosomes showed extended proximal area (p5) in 34%, but diminished (pI)--in 8%. The small acrocentrics with p5 were found in 14% of the newborns, but with pI--in 7%. Enlarged satelites were observed in 1% in the both groups of acrocentrics. Difference between the homologues in respect to the short arms was observed in 32,3% of the pairs of the great acrocentrics and in 47,5% of the small acrocentrics. Distribution of the Y chromosome according to the size in 51 boys was of Gaus character q1--0%, q2--29,4%, q3--33,3%, q4--25,5% and q5--11,7%. It is possible that Y chromosome with a size of q1 could be connected with definite pathology.

[Correlation between genome mutations and the cell division types in immunological sensitization states]. / Suotnoshenie mezhdu genomnite mutatsii i tipovete kletuchno delenie pri niakoi sustoianiia na imunologichna sensibilizatsiia.

The 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 -- 1.5% of P and 0.80% of AD compared with the control values of 0.54% of P and 0.17% of AD. The highest percentage P -- 1.12 and AD -- 2.1 was found in BS with chronic process, in whom the blast-transformation reaction to brain antigen --34% was mostly manifested. In the cultures of BS, treated with brain antigen, AD reached up to 1.38%. The increase of AD was accompanied with lowering of mitotic index: BS -- 1.2% of MD and 0.40 of AD; PSA -- 2,04% of MD and 0.50 of AD compared with the control values of 4% of MD and 0.17% of AD. The results showed that immunologic sensibilization was accompanied by an increase of genome mutations and amitotic division and with lowering of mitotic index; they revealed polyploidy and amitotic division as compensatory mechanisms of the organisms under certain conditions.

[Comparative cytogenetic studies of newborn infants and adults]. / Sravnitelni tsitogenetichni izsledvaniia pri novorodeni i vuzrastni litsa.

The 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). In the hyperploid karyotypes 1,3% of the cells of the adults the additional chromosomes were of group C and D. Structural aberrations were observed in 0,58% of the cells of the newborns and in 3,6% of those of the adults (P less than 0,05%. Chromosomal and chromatoid breaks with or without the presence of fragment predominated. Cells with AAC in the newborns were 61,7% against 81,4% in the adult persons (P less than 0,001). The number of the associating chromosomes increased with advancement of age--19,2% in the newborns and 31,9% in the adults (P less than 0,001). In the newborns 21,5% of the chromosomes from group G participated in associations and 17,7% of chromosomes from group D; in the adults both groups were equally engaged--31,3% of the chromosomes G and 32,4% of the chromosomes D.