Molecular Variation of Rh, MN, Duffy, Kidd, Kell, and Lutheran Blood Groups in the Human Population of Bosnia and Herzegovina

Six blood groups (Rh, MN, Duffy, Kidd, Kell and Lutheran) were investigated among three major ethnic groups (Bosniaks, Bosnian Croats, and Bosnian Serbs) as well as ten regional subpopulations across Bosnia and Herzegovina (Krajina, Posavina, North-Eastern Bosnia, Eastern Bosnia, Middle Bosnia, Central Bosnia, Sarajevo Region, Eastern Herzegovina, Central Herzegovina, and Western Herzegovina). This is the first study that introduces the molecular genetic typing of five blood groups within the population of Bosnia and Herzegovina with the exception of RhD blood group. The sample consisted of 450 buccal swabs from unrelated individuals. Five blood group systems (RhD, RhC, RhE, Kidd, MN) were genotyped by the PCR-SSP method, while three blood group systems (Kell, Duffy, Lutheran) were genotyped by the PCR-RFLP method. Minor variation of genetic diversity was observed within the three major ethnic groups in B&H as well as within the ten subpopulations stratified according to geographical criteria. No genetic differentiation among ethnic groups was noticed. These results are in agreement with the results of previous studies based on different molecular genetics markers, which indicate that the three ethnic groups of Bosnia and Herzegovina belong to the same gene pool. A similar level of genetic variance was observed within regional subpopulations with no significant genetic differentiation among them. Comparison of intrapopulation genetic diversity of the Bosnian and Herzegovinian population with other European and non-European populations, based on the three loci (RHD, MN and KEL), clearly showed that the level of genetic diversity of the Bosnia and Herzegovina population is within the European range

A PRELIMINARY STUDY OF THE PALEOLITHIC AND NEOLITHIC CONTRIBUTION THE EUROPEAN MTDNA FLOW IN SHAPING THE GENETIC STRUCTURE OF RECENT BOSNIAN POPULATION

The mitochondrial DNA (mtDNA) polymorphisms in Bosnian human population was analyzed by means of hypervariable segment I and II (HVSI and HVSII) sequencing and restriction fragment-length polymorphism analysis of the mtDNA coding region. The results suggest that shaping the genetic structure of recent Bosnian population likely to be affected by the expansion from the European glacial refuges area at the end of the Last Glacial Maximum (LGM), postglacial expansions from southwestern refuges of Europe, the Italian Peninsula and the dispersion in periods of more recent historical events, from the East European Plain. Especially interesting feature of the Neolithic expansion in this area is the ancient African/South Asian haplogroup N1a with the HVSI variant 16147G, which is almost absent in Europe. The haplotyps HVSI with variant 16147G suggest the colonization of the Northeast Bosnia region by Neolithic communities in the Early Neolithic period of expansion through Europe, as evidenced by the archaeological remains of the Starcevo culture

Knowledge of Elementary Genetic Terminology Among High School Students in Bosnia and Herzegovina

Genetics, as a science of the future, is very important part of Biology teaching. Within educational system in Bosnia and Herzegovina it is studied in limited number of clasess with a minimum of practical excercises, in both elementary and secondary schools. Limited understanding of scientific facts result in prejudices or uninformed attitudes towards novel biotechnologies that are largely based on non-reviewed and non-scientific information often incorrectly or inadequately presented in mass-media. Purpose of this research was to estimate the level of knowledge about selected topics in genetics among high school students in three Mostar high school institutions and differences in the level of knowledge between students from different high school programs – grammar school and vocational medical school. The research was conducted in 2017 among students of fourth grade of three high school institutions: ''Grammar School Mostar'', ''Medical high school Mostar'' and Medical high school ''Sestre milosrdnice''. Notable differences in knowledge level between two vocational programs are observed as well as variance in learning outcomes of the same program presented in two formal languages in Bosnia and Herzegovin

Levels and changes of physical activity in adolescents during the COVID-19 Pandemic: Contextualizing urban vs. Rural living environment

The COVID-19 pandemic and the social distancing implemented shortly after influence physical activity levels (PALs). The purpose of this investigation was to evaluate the changes in PAL and factors associated with PALs among Croatian adolescents while considering the impact of community (urban vs. rural living environment). The sample included 823 adolescents (mean age: 16.5 ± 2.1 years) who were tested on baseline (from October 2019 to March 2020; before COVID-19 pandemic in Croatia) and follow-up (in April 2020; during the COVID-19 pandemic and imposed rules of social distancing). Baseline testing included anthropometrics, physical fitness status, and evaluation of PALs, while follow-up included only PALs (evaluated by a standardized questionnaire through an internet application). The results showed a significant influence of the living environment on the decrease of PAL, with a larger decrease in urban adolescents. Logistic regression showed a higher likelihood for normal PALs at baseline in adolescents who had better fitness status, with no strong confounding effect of the urban/rural environment. The fitness status of urban adolescents predicted their PALs at follow-up. The differences between urban and rural adolescents with regard to the established changes in PALs and relationships between the predictors and PALs are explained by the characteristics of the living communities (lack of organized sports in rural areas), and the level of social distancing in the studied period and region/country

Microsurgical resection of giant T11/T12 conus cauda equina schwannoma

In this video, we highlight the anatomy involved with microsurgical resection of a giant T11/T12 conus cauda equina schwannoma. Spinal schwannoma remains the third most common intradural spinal tumor. Tumors undergoing gross total resection usually do not recur. To our knowledge, this is the first video case report of giant cauda equina schwannoma resection. A 55-year-old female presented with paraparesis and urinary retention. Lumbar spine MRI revealed a contrast-enhancing intradural extramedullary tumor at the T11/T12 level. Surgery was performed in the prone position with intraoperative neurophysiology monitoring (somatosensory and motor evoked potentials—SSEPs and MEPs). T11/T12 laminectomies were performed. After opening the dura and arachnoid, the tumor was found covered with cauda equina nerve roots. We delineated the inferior pole of the tumor, followed by opening of the capsule and debulking the tumor. Subsequently, the cranial pole was dissected from the corresponding cauda equina nerve roots. Finally, the tumor nerve origin was identified and divided after nerve stimulation confirmed the tumor arose from a sensory nerve root. The tumor was removed; histological analysis revealed a schwannoma (WHO Grade I). Postoperative MRI revealed complete resection. The patient fully recovered her neurological function. This case highlights the importance of careful microsurgical technique and gross total resection of the tumor in the view of favorable postoperative neurological recovery of the patient. Intraoperative use of ultrasound is helpful to delineate preoperatively tumor extension and confirm postoperative tumor resection

Sprint skating profile of competitive female bandy players: An analysis of positional and playing-level differences

There is no research examining female bandy players, which creates a gap of knowledge of female skating performance and its determinants with male skating performance, not only in bandy but also in exercise science in general. Therefore, the aim of this explorative study was to investigate position and playing-level differences in the sprint skating performance and anthropometrics of 74 elite female bandy players (age: 18.9 ± 4.1 years; height: 1.67 ± 0.06 m; body mass: 63.2 ± 7.4 kg). Participants were categorised according to playing level (26 elite and 48 junior elite players) and position (22 defenders, 35 midfielders, and 17 forwards). They were tested on their anthropometric characteristics and sprint linear skating profile over 80 m with the split times measured at 10, 20, 40, 50, 60, 70, and 80 m to calculate the average velocities between these different 10 m intervals. Results revealed that elite players had more training experience, were heavier, could accelerate faster, and reached a higher maximal velocity than the junior elite players (9.52 ± 0.37 vs 8.84 ± 0.40 m/s, respectively). In general, defenders were heavier than forwards, and the elite forwards accelerated faster in the first 10 m than the midfielders (p = 0.041). In summary, playing level and position, body mass, and training experience modulated skating sprint performance. The findings suggest that female junior-level players should spend more time developing skating sprint and acceleration abilities to meet the specific demands of playing at the elite level. Moreover, the coaches and professionals who work with female bandy players should be aware that the development of acceleration ability is more important for forwards

Extreme lateral interbody fusion (XLIF) in a consecutive series of 72 patients

Extreme lateral interbody fusion (XLIF) has become the standard of minimally invasive lumbar segmental scoliosis treatment. Our objective is to determine the safety and efficacy of XLIF in spinal canal stenosis (SCS) and spondylodiscitis (SD). Patients treated with XLIF in our department between 2012 and 2018 were retrospectively analyzed. Patient records with clinical and radiographical parameters were evaluated. The patient cohort consists of 40 male and 32 female patients with a median age of 66.6 years. Forty-five patients had an SCS and 27 patients SD. The mean follow-up was 23 months. One level XLIF was performed in 49 patients, 2 levels in 15, 3 levels in 7 patients and 4 levels in 1 patient. All but one patient received an additional dorsal stabilization. The pain was present in all patients with a mean Visual Analogue Scale (VAS) score of 8.8 vs. postoperative VAS of 2.8 (p<0.05). Preoperative neurological deficits were found in 44 patients. Only 6 patients had a neurological deterioration, 45 patients improved, and 21 patients remained unchanged. One patient experienced a perioperative complication.  Non-fusion occurred in 8 cases. There were no outcome differences regarding pain and radiological outcome between patients with SCS and SD as well as between patients with one level vs. multilevel surgery. Baseline characteristics and the radiological outcome did not differ between the two groups. Patients with SD had a higher rate of worsening of neurological deficits following surgery, a higher rate of non-fusion, and a longer hospital stay. Patients with spinal canal stenosis SCS had a longer surgery time and more frequent adjacent segment disease

Effects of dipotassium-trioxohydroxytetrafluorotriborate, K2[B3O3F4OH], on cell viability and gene expression of common human cancer drug targets in a melanoma cell line.

Recently it was found that dipotassium-trioxohydroxytetrafluorotriborate, K2(B3O3F4OH), is a potent and highly specific inhibitor of precancerous cell processes. We conducted gene expression profiling of human melanoma cells before and after treatment with two concentrations (0.1 and 1 mM) of this boron inorganic derivative in order to assess its effects on deregulation of genes associated with tumor pathways. Parallel trypan blue exclusion assay was performed to assess the cytotoxicity effects of this chemical. Treatment with K2(B3O3F4OH) induced a significant decrease of cell viability in melanoma cellline at both tested concentrations. Furthermore, these treatments caused deregulation of more than 30 genes known as common anti-tumor drug targets. IGF-1 and hTERT were found to be significantly downregulated and this result may imply potential use of K2(B3O3F4OH) as an inhibitor or human telomerase and insulin-like growth factor 1, both of which are associated with various tumor pathways

Acute physiological, perceived exertion and enjoyment responses during a 4-week basketball training: a small-sided game vs. high-intensity interval training

IntroductionAlthough previous research found that small-sided game (SSG) training was more enjoyable than high-intensity interval training (HIT) in various sports, no data were provided during longer training period in basketball. Furthermore, the comparison of internal loads between the two training approaches needs to be further examined. Thus, this study aimed to examine the acute physiological, perceived exertion and enjoyment responses during 4-week progressive basketball SSG or HIT programs.MethodsNineteen female collegiate basketball players were randomly assigned to two groups that performed either HIT (n = 10) or SSG (n = 9) 3 times per week for 4 continuous weeks. Average and percentage of maximal heart rate (HRmean and %HRmax), rating of perceived exertion (RPE), and physical activity enjoyment (PACES) were determined during each training session.ResultsThere was a main group effect in PACES (p &lt; 0.001; ηp2 = 0.44, moderate), and SSG had higher PACES than HIT in each week (p &lt; 0.05). There were no significant interactions or main group effects in HRmean, %HRmax or RPE, but a main time effect was found in HRmean (p = 0.004; ηp2 = 0.16, minimum), %HRmax (p &lt; 0.001; ηp2 = 0.25, minimum), and RPE (p &lt; 0.001; ηp2 = 0.31, moderate), respectively. In the SSG group, although no significant differences were found in HR responses, %HRmax was below 90% in week 1 and week 2. Accompanied with changes in %HRmax, RPE in week 1 and week 2 was lower than that in week 3 and week 4 (p &lt; 0.05).ConclusionOur findings suggest that SSG and HIT elicit similar acute HR response and RPE level, but SSG is perceived as more enjoyable and therefore it is more likely to increase exercise motivation and adherence comparing to HIT. Moreover, it seems that half-court, 2 vs. 2 SS Gtraining format with modified rules and lasting ≥ 7.5 min should be prescribed as an enjoyable training alternative to provide optimal cardiovascular stimuli (&gt; 90% of HRmax) for female basketball players

Copy number variation in MODY diabetes - Familial case presentation

MODY (maturity-onset diabetes of the young) is an autosomal dominant form of diabetes that is usually manifested before the 25-year of life. This type of diabetes is caused by defects in the primary insulin secretion. There are several types of MODY, which are monogenic diseases, where mutations in a single gene are responsible for a particular type of MODY. Currently, there are eleven types of MODY, from which the most common types are MODY 2 and MODY 3 (with mutations on GCK and HNF1A genes, respectively). We identified very rare MODY 7 type of diabetes in three family members by MLPA analysis