Introduction: In this study we aimed to perform the first research on the current state of compulsory basic and clinical courses in genetics for medical students offered at medical faculties in six Balkan countries with Slavic languages (Bosnia and Herzegovina, Croatia, Montenegro, North Macedonia, Serbia, and Slovenia). Materials and Methods: The study was conducted from June to September 2021. One representative from each country was invited to collect and interpret the data for all medical faculties in their respective country. All representatives filled a questionnaire, which consisted of two sets of questions. The first set of questions was factual and contained specific questions about medical faculties and design of compulsory courses, whereas the second set of questions was more subjective and inquired the opinion of the representatives about mandatory education in clinical medical genetics in their countries and internationally. In addition, full course syllabi were analysed for course aims, learning outcomes, course content, methods for student evaluation and literature. Results: Detailed analysis was performed for a total of 22 medical faculties in Bosnia and Herzegovina (6), Croatia (4), Montenegro (1), North Macedonia (3), Serbia (6), and Slovenia (2). All but the two medical faculties in Slovenia offer either compulsory courses in basic education in human genetics (16 faculties/courses) or clinical education in medical genetics (3 faculties/courses). On the other hand, only the medical faculty in Montenegro offers both types of education, including one course in basic education in human genetics and one in clinical education in medical genetics. Most of the basic courses in human genetics have similar aims, learning outcomes and content. Conversely, clinical courses in medical genetics are similar concerning study year position, number of contact hours, ECTS (European Credit Transfer and Accumulation System) and contents, but vary considerably regarding aims, learning outcomes, ratio of types of classes, teaching methods and student evaluation. Conclusion: Our results emphasise the need for future collaboration in reaching a consensus on medical genetics education in Balkan countries with Slavic languages. Further research warrants the analysis of performance of basic courses, as well as introducing clinical courses in medical genetics to higher years of study across Balkan countries.

Aim of this paper was to determine the frequency of congenital anomalies in a sample of newborns of Tuzla Canton and as well as their distribution according to gender, mother’s age and marital distance category. Research was undertaken using the retrospective analysis on the Clinic for Gynecology and Obstetrics of University Clinical Center in Tuzla. By analyzing medical documentation of 17223 newborns, we determined the frequency of congenital anomalies of 5.24%. Highest frequency of congenital anomalies was found in the newborns whose mothers are older than 35. It was found that the frequency of congenital anomalies in the observed population is within the range of variation of this parameter with data from the literature.

Analysis of 4G/5G polymorphisms of PAI-1 gene in interaction with other genetic and external risk factors that induce development of venous thromboembolism can be used for risk assessment for development of venous thromboembolism. Research was conducted on 202 examinees of both genders, older than 18, from north-eastern Bosnia. Experimental group included 100 examinees with diagnosed DVT and 101 examinees who until the sampling procedure did not have diagnosed DVT. In DVT group, following genotype frequencies were determined: 27% of examinees had a normal genotype 5G/5G, 68% are heterozygotes and 5% are mutated homozygotes 4G/4G. In the control group, frequencies of 4G/5G polymorphisms of PAI-1 gene were: 42.6% of examinees have 5G/5G genotype, 55.4% are heterozygotes 4G/5G and 2% are 4G/4G genotype. Obtained results support the hypothesis that PAI-1 in interaction with other genetic and external risk factors probably induces the development of venous thromboembolism.

The paper aims to evaluate the role of faecal coliforms in assessment of water quality. The study was conducted on the Neretva River in Bosnia and Herzegovina. The sampling was performed bimonthly, over 12 months at seven selected sites. APHA (1995) methods were used. The raw data of temperature, pH, conductivity, oxygen saturation, nitrogen, total phosphorus, and faecal coliforms were transformed into unitless subindices on a scale of 0 to 100 (Ridanovic et al., 2012). NWQI was calculated as a harmonic mean of subindices. Application of NWQI as indicator of water quality was demonstrated through spatial analysis of water quality. Results show a significant decrease (>50%) of water quality. Linear regression was used to assess which parameter has the greatest influence on NWQI value. Results suggest that all tested parametres are strongly connected to NWQI (nitrogen, R 2 =0.7455422), (total phosphorus, R 2 =0.887803), (oxygen saturation R 2 =0.696964), (pH, R 2 =0.595705). However, NWQI value was the most significantly affected by faecal coliforms (R 2 =0.9788). Subindex values for conductivity and temperature were 100, hence their connection to NWQI cannot be analysed by linear regression. Results show how much NWQI changes with a change in one or more subindices, as it assumes a causal relationship between them.

One of the genes considered as a risk factor for coronary artery disease (CAD) is the angiotensin-converting enzyme (ACE) gene. Many studies have been published regarding the relation between the ACE gene insertion/deletion (I/D) polymorphism and CAD. However, studies have provided controversial results. To explore this further in the population of Bosnia and Herzegovina, we compared the ACE I/D genotypes and alleles distribution between two groups: 100 CAD patients and 100 healthy control subjects. The higher distribution of DD genotype (47.0%) and D allele (65.5%) were found in CAD patients compared to controls (DD 34.0%; D allele 51.0%). Genotype odds ratio, (DD + ID) on the II, was 2.471 (1.252 – 4.876; 95% CI; p < 0.05). This leads to the conclusion that the DD genotype of the ACE I/D polymorphism affects the risk for development of coronary artery disease in Bosnian population.

Diabetic retinopathy (DR) is a complication of diabetes characterized by vascular permeability, increased tissue ischemia, and angiogenesis. One of the most important proteins involved in angiogenesis is vascular endothelial growth factor (VEGF, also known as VEGFA). A previous study demonstrated that two single nucleotide polymorphisms (SNPs), rs6921438 and rs10738760, account for nearly half the variation in circulating VEGF levels. The aim of our study was to assess the association between rs6921438 and rs10738760 and DR in Slovenian patients with type 2 diabetes mellitus (T2DM). This case-control study enrolled 1037 unrelated Slovenian individuals (Caucasians) with T2DM. DR group included 415 T2DM patients with DR, while control group included 622 T2DM patients with no clinical signs of DR. The clinical and laboratory data were obtained from the medical records of the patients. The genotyping of rs6921438 and rs10738760 SNPs was carried out with real-time PCR assays. Significant differences were observed between patients with DR and controls in the duration of diabetes (p < 0.001), insulin therapy (p < 0.001), glycated hemoglobin (p = 0.001), body mass index (p = 0.002), total cholesterol (p = 0.002), and low-density lipoprotein cholesterol (p < 0.001). However, we did not observe significant differences in the genotype and allele distribution of the two SNPs, between DR and control group (p < 0.05). Logistic regression analysis showed that rs6921438 and rs10738760 were not independent genetic risk factors for DR in the co-dominant model adjusted for the above-mentioned clinical and laboratory data. In conclusion, VEGF-related SNPs rs10738760 and rs6921438 are not associated with DR in our group of Slovenian patients (Caucasians) with T2DM.