Aim Chromosome translocations are considered as one of the most severe forms of genome defects. Because of the clinical significance of chromosome translocations and scarce data on the incidence of sporadic translocations in population of Bosnia and Herzegovina, we aimed to report sporadic translocation frequencies in samples karyotyped in our laboratory. Methods The study group consisted of 108 samples. Whole blood was cultivated in complete medium for 72 hours with the thymidine application at 48th hour to synchronize the cell culture. Metaphases were arrested by colcemid 60 minutes before harvesting. Following hypotonic treatment, cells were fixed and cell suspension was dropped on coded slides. Dried slides were subjected to conventional GTG (G-banding with trypsin-Giemsa) banding and analyzed under 1000x magnification in the accordance with ISCN (International System for Human Cytogenetic Nomenclature) and E.C.A. Cytogenetic Guidelines and Quality Assurance. Results The incidence of all detected sporadic translocations was 27.81 x 10-4 per metaphase. The incidence of sporadic translocations involving chromosomes 7 and 14, being considered as the most frequent sporadic translocations of the human karyotype in phytohaemagglutinin (PHA) stimulated lymphocytes, was 15.89 x 10-4 per metaphase. The most frequent breakpoints were 7p21, 14q11 and 14q21. Other detected sporadic translocation breakpoints were: 1q25, 3p22, 7p13, 7q11.22, 7q33, 14q23 and 19q13.4. Conclusion Higher incidence of sporadic translocations compared to the similar studies was registered. Since potential explanations for this issue are smaller sample size and higher exposure of examined population to genotoxic agents, further monitoring of sporadic translocation incidences is recommended.

This paper provides an overview of the seven possible hand-related traits, with an idea to estimate the statistical phenotypic association between them. The traits observed in this study were: midphalangeal hair, Hitchhiker’s thumb, extensibility of proximal joint of thumb, digital index, nail shape, crooked fifth finger and hand clasping. The mentioned characteristics were observed in 7431 unrelated subjects, with approximately equal gender distribution. For each case, three groups were formed: total, male and female. The subjects were evenly distributed throughout Bosnia and Herzegovina’s various geographical regions, and they properly represent the country’s national and ethnic composition. The Chi-squared test was used to determine the statistical significance of the association between these traits, while Fisher’s exact test was utilized as an extra test to analyze the association between each pair of observed features. Also, Chi-squared test was applied for observing differences in the frequencies of the phenotypic characteristics of the hand between the genders. Following traits were shown to have a statistically significant association: midphalangeal hair-Hitchhiker’s thumb, midphalangeal hair – digital index, midphalangeal hair – nail shape, midphalangeal hair – crooked fifth finger, Hitchhiker’s thumb- extensibility of proximal joint of thumb, digital index – nail shape, digital index -crooked fifth finger, midphalangeal hair – hand clasping, crooked fifth finger – hand clasping. Analysis of differences in the frequencies of the observed phenotypic traits of the hand according to the genders showed statistical significance for D, Dht, Ref and Lf.

Abstract Male infertility is caused by spermatogenetic failure, clinically noted as oligoor azoospermia. Approximately 20% of infertile patients carry a genetic defect. The most frequent genetic defect leading to azoospermia (or severe oligozoospermia) is Klinefelter syndrome (47, XXY), which is numerical chromosomal abnormality and Y- structural chromosome aberration. The human X chromosome is the most stable of all human chromosomes. The X chromosome is loaded with regions of acquired, rapidly evolving genes. The X chromosome may actually play an essential role in male infertility and sperm production. Here we will describe X chromosome aberrations, which are associated with male infertility.

Mucopolysaccharidoses (MPSs) are known as rare genetic diseases which are caused by mutation in the enzyme heparin sulfate, which normally leads to degradation and accumulation of glycosaminoglycans in the cells. There are 11 types of MPSs, whereby neuropathy may occur in seven of them (MPS I, II, IIIA, IIIB, IIIC, IIID and VII). Accumulation of degraded heparin sulfate in lysosomes causes cellular dysfunction and malfunction of several organs. However, the exact molecular mechanism how protein degradation and storage leads to cellular dysfunction is not understood, yet. Nonetheless, several genetic and biochemical methods for diagnosis of MPSs are available nowadays. Here we provide an overview on known molecular basis of MPS in general, including enzyme defects and symptoms of MPS; however, the main focus is on MPS type III together with potential and perspective therapy-options.

BACKGROUND Piriform aperture is anterior opening of the nasal cavity formed by bones of the viscerocranium and knowledge about differences between genders is important for forensic scientists, anthropologists, orthopedists, neurosurgeons and vascular surgeons. The aim of this study was to examine gender differences of piriform aperture on 3D models of human skulls originating from Bosnian population using the geometric morphometric method. MATERIALS AND METHODS The study was conducted on 211 3D models of human skulls of known gender. 3D models were obtained by laser scanning. We analyzed the gender differences of piriform aperture using geometric morphometrics method. On 3D models we marked four landmarks on piriform aperture in the Landmark editor program, after which we analyzed its gender differences in MorphoJ program. RESULTS The first PCA axis described 40.398% of total variability of piriform aperture. The greatest gender variability was present in the position of the landmark rhinion. Discriminant functional analysis of the shape and size of the piriform aperture allowed the gender determination with 64.03% accuracy for male and 70.83% accuracy for female gender. The size of the piriform aperture showed a statistically significant difference between genders. Discriminant functional analysis of the shape of the piriform aperture without affecting size enabled gender determination with 59.71% accuracy for male and 62.5% accuracy for female. CONCLUSIONS Analysis showed statistically significant differences in the shape and size of piriform aperture between genders. The accuracy for gender determination based on piriform aperture was higher in females.

of the age group of 6–12 years, and 10 patients of the age group of 12–18 years. Conclusions: Data suggest that pediatric cases of COVID-19 in adolescents have more severe symptoms than in the other age groups; however, in general children tend to cope much more easily with the virus than adults.

The post-war period (1996 to presence) in the Western Balkans is colored by a kind of competition among (pseudo) scientists and self-proclaimed experts in search for the deepest roots of a particular ethnic group. General conclusions have been reached based of the distribution of a single or only few genetic markers, with no reference to the specific pheno-genotype system studied. The conclusions were all biased by earlier misconceptions and myths about the successive colonization of the Balkans and the inter-genetic relationships among regional populations. In this paper we elaborate methodology and limitations and misconceptions that arise from unsubstantiated use thereof.

This study was designed on the analysis of the mtDNA polymorphisms in three ethnic populations of Tuzla Canton of Bosnia and Herzegovina (Bosniaks, Croats and Serbs). The main aim of this study was to analyze the influences of the maternal gene flow on the genetic profile of the analyzed populations. The analysis of mtDNA variation based on relevant restriction fragment length polymorphisms (RFLP) in combination with HVSI variations of the control region (for detection of subhaplogroups of the haplogroup U) enabled the identification of the typical of the Western-Eurasian haplogroups (H, I, J, T, W, U, HV, HVO, K, V, and X), African/Near East lineages N1a and Asian haplogroup M. Our results suggest that mitochondrial gene pool of the three main ethnic groups of Tuzla region was shaped by influences of early and late migration routes which marked the settlement process of the Balkans. The effects of different migration directions are illustrated by the distribution of important indicators of the Late Glacial expansion (U5a), postglacial re-colonisation of Europe from glacial refuges of southwestern European (H, V, U5b1), central-eastern European Plain (U4), Italian Peninsula (U5b3) and neolithic expansion (U3, N1a, J and T). Our data can indicate a common genetic history, origin, as well as a similar contribution of the parental and maternal gene flow on genetic structure of the three main ethnic populations of modern Bosnia and Herzegovina.

Genotoxic effects of inorganic molecule dipotassium-trioxohydroxytetrafluorotriborate, K2(B3O3F4OH), a promising new therapeutic for the epidermal changes treatment, have been evaluated. In vitro analysis included evaluation of genotoxic and cytotoxic potential of K2(B3O3F4OH) in concentrations of 0.01, 0.02, 0.05 and 0.06 mg/mL applying cytokinesis-block micronucleus cytome assay in human lymphocyte culture. With the increase of concentration the frequency of micronuclei elevated but the differences were not significant. Also, there were no significant differences among the frequencies of nuclear buds and nucleoplasmic bridges between controls and treated cultures. Nuclear division index and nuclear division cytotoxycity index values did not reveal significant cytotoxic effect of K2(B3O3F4OH). In vivo genotoxic effects were analyzed on BALB/c mice applying reticulocytes micronucleus assay. K2(B3O3F4OH) was administrated intraperitoneally in final concentrations of 10, 20, 50 and 55 mg/kg. Significant decrease of reticulocytes ratio and increase of micronuclei frequencies against pre-treatments were found for both sampling periods of 48 and 72 hours of the highest applied concentration. This study confirmed that K2(B3O3F4OH) is not genotoxic in tested concentrations in vitro as well as in concentrations lower than 55 mg/kg in vivo. This study presents a reliable basis for further pre-clinical and potential clinical investigations.