Single umbilical artery and reproduction losses in Slovak population: relation to karyotype and fetal anomalies.

Aim: The purpose of this study was to monitor the association between single umbilical artery (SUA), chromosomal abnormalities and associated anomalies during the routine examination of spontaneous or induced miscarriages and premature births.

Methods: During 1992-2015 we morphologically and cytogenetically examined a series of 4098 samples. For 1330 cases the number of umbilical cord vessels could be reported.

Distribution of the most common polymorphisms in TYMS gene in Slavic population of central Europe.

Thymidylate synthetase (TS) plays a critical role in the de novo synthesis of dTMP inside the cell. Therefore, TS is a suitable target for cytotoxic drugs such as fluoropyrimidines. Drug efficacy and toxicity depend on the intracellular level of TS, which is significantly influenced by the polymorphisms in the 5'UTR (TSER - rs45445694, TSER*3G>C - rs2853542) and 3'UTR (1494del TTAAAG - rs151264360) of TYMS gene.

The First Reported Case of Meckel-Gruber Syndrome Associated With Abnormal Karyotype Mosaic Trisomy 17.

Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive disorder with typical anomalies including encephalocele, multicystic renal dysplasia, congenital liver fibrosis, and polydactyly. MKS is caused by mutations of genes localized on different chromosomes. Karyotypes of published Meckel-Gruber syndrome cases are without any aberrations.

Can we predict orofacial cleft in future pregnancy?

Aim: The aim of this thesis was not only to define the frequency of all orofacial clefts and their particular types, but also to determine the sex of an embryo or fetus and detect associated developmental and chromosomal abnormalities. Approximately one third of orofacial clefts are a part of chromosomal syndromes.

Materials And Methods: Retrospective morphological and cytogenetic study of 43 cases of different types of orofacial clefts between 1992-2014 from miscarriages (spontaneous abortions) and premature births.

Effect of pyridoxylidene aminoguanidine on human diploid cells B-HEF-2: in vitro cytotoxicity test and cytogenetic analysis.

Background: Pyridoxylidene aminoguanidine is an appropriate inhibitor of protein glycation, respectively formation of advanced glycation products, which are connected with mechanism of pathogenesis in chronic diabetic complications. Moreover, it was found that in comparison with aminoguanidine, pyridoxylidene aminoguanidine does not influence the level of vitamin B6 in liver and kidneys in vivo. The aim of this study was to test cytotoxic effect of pyridoxylidene aminoguanidine in vitro, in regard to its potential use as inhibitor of advance protein glycation in diabetic patients.

Cytotoxicity test and cytogenetic analysis of effects of aminoguanidine in vitro.

The potential genotoxic activity of chemical substances in vitro is usually assessed by the micronucleus test and by karyological analysis. Use of the fluorescent plus Giemsa (FPG) technique is also recommended in the event that positive results are found in the micronucleus test, or if there is an increased rate of structural and numerical chromosome aberrations compared with controls. The tested substance, aminoguanidine (AG), has a marked ability to inhibit the toxic effects of carbonyl products (carbonyl stress) that arise during the end-phases of non-enzymatic protein glycation both in vitro and in vivo.

Developmental defects and chromosomal aberrations in spontaneous abortions and stillbirths.

The authors analysed 1488 cases of spontaneous abortions and stillbirths in Bratislava. They focused on the course of human embryogenesis and the chromosomal constitution. A high mean frequency rate of both developmental defects (14.

[Pathologic karyotypes in autopsy material].

In 1986-1989 the authors were concerned with the cultivation of necroptic material. Material was collected from five indication groups outlined in advance. A total of 231 specimens of necroptic material were cultivated, incl.

[69, XXY triploidy in a liveborn infant].

Triploidy 69, XXY was described in a liveborn foetus weighing 760 g. Diagnosis was based on postmortal cytogenetical analysis.

[Postmortem chromosome analysis and its significance].

Cultivation of necroptic material taken by pathologist or obstetrician according to determined indicative groups was performed during the years 1986-1990. Cytogenetical evaluation was feasible in 157 cultivated samples from the total of 252. There were found 32 pathological karyotypes among them.

[Cytogenetic examination of amniotic fluid specimens in the 2d trimester of pregnancy (personal experience 1981-1989)].

The authors analyze a group of pregnant women examined at the Chair of Biology and Parasitology of the Medical Faculty J. A. Komensky's University between 1981 and the end of August 1989.

[Experience with postmortem chromosome analysis].

Over the years 1986-1988 necroptic material, collected according to 5 established indication groups, was cultured. A total of 202 samples of necroptic material cultured and 122 of these samples were analyzed cytogenetically. Seventeen pathologic karyotypes were diagnosed in the material, namely 7 cases of Down's syndrome, 2 cases of Klinefelter's syndrome, 2 cases of D/D translocation, 1 case of Turner's syndrome, 1 case of gonosomal mosaicism, and 1 case of Patau's syndrome.