Here we describe the major genetic and genomic aberrations found in myeloid malignancies and how those markers are used in patients' diagnosis, prognosis, and targeted treatment. In Bosnia and Herzegovina, cytogenetic and molecular diagnostics for myeloid malignancies have been established and continually improved since 2005. We report the current state of available diagnostic tools for myeloid malignancies in Bosnia and Herzegovina. Myeloid malignancies are a heterogeneous group of clonal blood diseases characterized by defects in hematopoietic stem cells and myeloid progenitors that lead to abnormal proliferation, differentiation, localization, and self-renewal. Most common myeloid malignancies include myeloproliferative neoplasms (MPNs), myelodysplastic syndrome (MDS), and acute myeloid leukemia (AML). Molecular diagnostics of myeloid malignancies have significantly expanded in the last decade with new genetic and genomic markers for diagnosis, prognosis, and treatment. CONCLUSION: In the last decade, several new genomic markers important for patient diagnosis, prognosis, and therapy have been discovered that need to be implemented in routine molecular diagnostics not only in developed nations but also in developing nations such as Bosnia and Herzegovina.

Introduction Serological detection of SARS-CoV-2-specific immunoglobulins G (IgG) and M (IgM) antibodies is becoming increasingly important in the management of the COVID-19 pandemic. Methods We report the first results of COVID-19 serological testing in Bosnia and Herzegovina on 2841 samples collected and analysed in 2 medical institutions in Sarajevo. Antibody detection was performed using commercially available kits. Results In the first cohort, 43 IgM-positive/IgG-negative and 16 IgM-positive/IgG-positive individuals were detected, corresponding to 3.41% of participants having developed antibodies. In the second cohort, 4.28% participants were found to be IgM-negative/IgG-positive. Conclusions Our results suggest the need for population-wide serological surveying in Bosnia and Herzegovina.

Background: The human angiotensin I converting enzyme 1 (ACE1) gene insertion/deletion (I/D) polymorphism is classified based on the presence or absence of a 287 bp Alu sequence. The ACE1 D allele is associated with higher ACE1 concentrations in tissues. Previous research has shown that susceptibility to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is primarily determined by the affinity between the viral receptor-binding domain and the host human receptor angiotensin-converting enzyme 2 (hACE2) receptor. In the human genome, ACE2 is identified as a homolog to ACE1. Objective: The purpose of this study was to characterize the ACE1 D allele distribution in Bosnia and Herzegovina (B&H), so as to compare it to population data from other European countries and to investigate the potential correlation between D allele frequencies and coronavirus disease 2019 (COVID-19) epidemiological findings in selected European populations. Methods: The ACE1 D allele frequencies in 18 selected European populations were analyzed and compared with COVID-19 prevalence, mortality, and severity using multivariate linear regression analysis. Results and Discussion: The ACE1 D allele distribution within the B&H population was similar to its distribution in other European populations. Regression analysis showed no significant correlation between the D allele frequency and the incidence of infections between the examined populations, nor with the rates of fatality and severe cases. Conclusion: There is no clear statistical evidence that the ACE1 D allele is associated with increased or decreased COVID-19 incidence, mortality, and case severity within the investigated populations.

Leukocytes are isolated by centrifugation after specific lysis of erythrocytes

Aim To investigate the prevalence of common genetic variants that can serve as markers of thrombophilia and warfarin pharmacogenetics in Bosnia and Herzegovina. Methods The study was performed between August and October 2017 on 130 healthy unrelated adult volunteers from Bosnian-Herzegovinian population sample. The prevalence of the following genetic variants was determined: F5 c.1601G>A (factor V Leiden), F2 c.*97G>A (factor II or prothrombin mutation), F13A1 (factor XIII) c.103G>T, MTHFR (methylenetetrahydrofolate reductase) c.665C>T and c.1286A>C, as well as PAI-1 (plasminogen activator inhibitor 1) c.-816A>G and c.-844G>A as markers of thrombophilia risk, and *2 and *3 alleles of CYP2C9 (cytochrome P450 2C9) and five variants of VKORC1 (vitamin K epoxide reductase complex subunit 1) as markers of warfarin pharmacogenetics. DNA was isolated from buccal swabs using salting out method, while genotyping was performed using matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry. Results Minor allele frequencies for two main thrombophilia risk factors, F5 c.1601G>A and F2 c.*97G>A were 0.023 and 0.008, respectively. Combined data for the markers of warfarin pharmacogenetics imply that 57.4% study participants can be expected to metabolize warfarin at an extensive, 40.3% at intermediate, and 2.3% at a poor rate. Conclusion This study reports the first extensive population genetic data for thrombophilia and warfarin pharmacogenetic markers in Bosnia and Herzegovina. Allele frequencies of genetic variants are within the general average for European populations, and their presence implies the necessity of introduction of personalized medicine in warfarin-mediated antithrombotic therapy.

The region of Western Balkans has been inhabited since the Paleolithic era and was the route of the spread of farming from the Middle East to Europe during the Neolithic era. In the present study, Y-STR data from European populations have been used to construct median-joining networks. The study was performed using Whit Athey’s Haplogroup Predictor, Y Utility and Network 4 software packages to predict Y haplogroups, construct networks, perform clustering of closely related Y chromosomes and calculate time estimates between individual nodes. The results of the study imply that geographically close populations cluster together at both Balkan and European levels. It was observed that an elevated number of study populations and individual haplogroups increases the possibility that individuals of different ethnic background cluster within the same or neighboring clades of network. Subsequent time estimates, performed based on the mutation frequency between the ancestral node and its descendant nodes, revealed that I2a haplogroup within the Western Balkan region has the most compact clustering (age, estimated at 3109 years), followed by Hg E1b1b which has the second most compact clustering (4896 years). The obtained results are nonetheless in accordance with previously published research investigating the frequency of Y haplogroups based on Y-SNP variant frequencies, indicating that Western Balkan countries are mainly represented by I2a subclade (average for six countries 32.3%), followed by E1b1b and R1a (average for six countries of 21.5% and 17%, respectively).

β-Glucosidase was purified from Brassica oleracea by salting out with ammonium sulfate and hydrophobic interaction chromatography. Results demonstrated that the enzyme is a dimer (130 kD) made up of one major (80 kD) and one minor subunit (50 kD). The pH optimum is 6.0, with 50% of the enzyme's original activity remaining between pH 4.0 and pH 7.0. The temperature optimum is 35C, and activity did not decrease after two hours of exposure to this temperature. The activity of the enzyme was investigated on four substrates, 4-Nitrophenyl β-D-glucopyranoside (p-NPG), ortho-Nitrophenyl-β-D-glucopyranoside (o-NPG), para-Nitrophenyl-β-D-galactoside (p-NPGal) and ortho-Nitrophenyl-β-D-galactoside (o-NPGal), and km values were shown to be 0.755 mM, 0.174 mM, 0.988 mM and 0.213 mM, while Vmax values were 604 U/mg, 38 U/mg, 556 U/mg and 308 U/mg, respectively. The enzyme is completely inhibited by gluconolactone and glucose against p-NPG as substrate, with ki values of 0.038 mM and 0.64 mM, respectively. To our knowledge, this is the first study demonstrating purification and characterization of β-glucosidase from broccoli, thus providing a better understanding of its role in the plant, and establishing a basis for further research. Practical Applications To our knowledge, this is the first study demonstrating purification and characterization of β-glucosidase from broccoli, thus providing a better understanding of its role in the plant, and establishing a basis for further research. The results of this research highlight the potential of the enzyme isolated from broccoli for further research. Succeeding efforts would involve optimization of this procedure for increasing the enzyme yield, in order to make it a viable candidate for industrial application.