Abstract Background CYP3A5 enzyme encoded by CYP3A5 is important for drug metabolism in gut and liver, whereas P-glycoprotein by ABCB1, is an ATP-dependent drug efflux pump which exports endo- and exogenous substances outside the cell. Aim The study was to assess the prevalence of CYP3A5 alleles: *1, *2, *3, *4, *6 and *7, and C and T of ABCB1 in Poles, Belarusians and Bosnians and to compare it with the data reported from other European populations. Subjects and methods Overall, 511 unrelated healthy subjects from Poland (n = 239), Belarus (n = 104) and Bosnia and Herzegovina (n = 168) were included in this study. Allele frequencies and statistical parameters (AMOVA version 2.9.3) were determined. Results In Poles, Belarusians and Bosnians the *3 allele of CYP3A5 was the most common, and wild-type allele *1, were: 5.8%, 1.6% and 2.1%, respectively. Allele *2 was very rare, and alleles *4, *6 and *7 were not detected. For the populations mentioned above, the ABCB1 allele C was: 48.1%, 51.4%, 52.4%, respectively. Conclusion In compared populations, the distribution of CYP3A5 variants but not ABCB1, differed significantly. Alleles *4, *6 and *7 of CYP3A5 did not occur or occurred rarely.

Background: Multiple sclerosis (MS) is a chronic disease characterised by a wide range of symptoms and a highly unpredictable prognosis, which can severely affect patient quality of life. Objective: The aim of the study was to evaluate the influence of gender, age and marital status on health-related quality of life (HRQoL) in MS patients. Methods: This study included 100 MS patients treated at the Department of Neurology, Clinical Center University of Sarajevo. Inclusion criteria were an Expanded Disability Status Scale score between 1.0 and 6.5, age between 18 and 65 years, stable disease on enrollment. HRQOL was evaluated by the Multiple Sclerosis Quality of Life-54 questionnaire (MSQoL-54). Mann-Whitney and Kruskal-Wallis test were used for comparisons. Linear regression analyses were performed to evaluate prediction value of gender, age and marital status on both physical and mental HRQOL Results: Women had significantly lower QOL scores then men in pain scale (55.00 vs. 76.67; p<0, 05). Younger patients had better physical (54.58 vs. 37.90; p<0.05) and mental health (59.55 vs. 45.90; p<0.05) composite scores. Patients with earlier age of onset scored significantly higher in health perception domain scale (45.00 vs. 32.50, p<0.05). Married patinets scored higher in physical and mental composite scores but with no significant difference except in sexual function (87,51 vs 70, 86, p<0,05) and emotional well being (66,67 vs 33,33; p<0,05) scales. Patient age retined its independent predictivity of physical health composite score (r2=0.063). Conclusion: Aging in MS proved to be important negative factor in predicting physical domains of QOL. Interventions for reducing difficulties caused by physical limitations in older patients, higher level of psychological support for patients with late onset disease and social support for those living alone are important factors in improving HRQOL in MS patients.

Abstract Background Translations of instruments for measuring quality of life developed in certain, mostly more developed, parts of the world usually do not cover regionally specific aspects of health-related quality of life, even after transcultural validation. The aim of this study was to develop and validate a reliable questionnaire in Serbian, Croatian, Bosnian, and Montenegrin languages suitable for measuring health-related quality of life in adults. Methods The study was of a cross-sectional type, assessing the reliability and validity of a newly developed questionnaire for measuring health-related quality of life (HRQoL) in adults residing in western Balkan states (WB-HRQoL). It was conducted on a sample of 489 adults from Serbia, Croatia, Bosnia & Herzegovina, and Montenegro, with a mean age of 52.2±14.4 years and a male/female ratio of 195/294 (39.9%/60.1%). Result The definitive version of the WB-HRQoL scale with 19 items showed very good reliability, with Cronbach’s alpha 0.905. The scale was temporally stable, and satisfactory results were obtained for divergent and convergent validity tests. Exploratory factorial analysis brought to the surface four domains of health-related quality of life, namely the physical, psychical, social, and environmental. Conclusion The WB-HRQoL scale is a reliable and valid generic instrument for measuring HRQoL that takes into account the cultural specifics of the western Balkan region.

Aim To evaluate the incidence, modalities of treatment and outcome in paediatric patients with traumatic brain injury (TBI). Methods A retrospective cross-sectional study including 353 paediatric patients with head injury was carried out in the Department of Neurosurgery of University Clinical Centre Sarajevo during the period 1 July 2006 - 30 June 2012 (72 months). For each patient the lowest Glasgow Coma Scale (GCS) was established and the patient was accordingly classified as suffering from mild, moderate or severe TBI. Neuroimaging data included computer tomography (CT). Survival rates and method of treatment were compared according to age group, and matched with the total number of patients examined. Results A total of 353 children with head trauma were identified. A severe TBI (GCS < 8) was found in 33 (out of 353) children, mostly in the age group 11-18. Falls were the most common cause of trauma, followed by traffic accidents. Falls were the most common mechanism in the infants, preschool, and school children up to 10 years old; children aged 11-18 showed a higher rate of traffic accidents comparing to children younger than 3 years. Of 353 patients, 49 (13,9%) required surgical procedure, 304 (86.1%) were threated conservatively. Survival rate was 96.6 %. Conclusion The majority of hospitalized patients qualify for medical treatment and surgical intervention is reserved for selected cases. Thus, the adequate pre-hospital care is essential.

OBJECTIVE The objective of our study was to investigate the effects of carbamazepine (CBZ) and lamotrigine (LTG) treatment on bone metabolism in epileptic patients. PATIENTS AND METHODS A cross-sectional study was performed on normal controls (N=30) and 100 patients with symptomatic epilepsy caused by a primary brain tumor, divided into two groups according to the treatment: LTG monotherapy group (N=50) and CBZ monotherapy group (N=50). For each participant serum levels of 25-OHD and osteocalcin (OCLN) were measured, and bone mineral density (BMD) was evaluated by the dual-energy X-ray absorptiometry method. RESULTS There was no statistically significant difference in the average values of vitamin D in serum between the CBZ and LTG groups (Vitamin D CBZ 17.03±12.86 vs. Vitamin D LTG 17.97±9.15; F=0.171, P=0.680). There was no statistically significant difference in the average values of OCLN between the CBZ and LTG groups (OCLN CBZ 26.06±10.87 vs. OCLN LTG 27.87±28.45; F=0.171, P=0.674). The BMD value was lower in both groups using antiepileptic agents compared to the controls, but when comparing the CBZ group to the LTG group, a statistically significant difference was only observed for the Z score (T-score CBZ: 0.08± 1.38 vs. T-score LTG: 0.37± 1.02; F=1.495, P=0.224; Z score CBZ: -0.05±1.17 vs. Z. score CBZ: 0.38±0.96; F=4.069, P=0.046) (Table 3). CONCLUSION The choice of antiepileptic agents for treating seizures in patients with brain tumors should be carefully evaluated in relation to their impact on bone health. These patients could benefit from supplementation and regular measurement of biochemical markers of bone turnover and BMD.

Previous research suggested that several genetic polymorphisms are associated with increased risk of ischaemic stroke (IS) in young adults. However, the predictive biomarkers of IS in young adults are still unclear. Our aim was to assess the contribution of modifiable and genetic factors in IS in young adults. In total, 40 stroke patients and 40 healthy controls aged 20 to 50 years were recruited. Data on modifiable factors were collected, then participants were genotyped for seven SNPs linked to thrombophilia: ACE rs1799752, PAI-1 rs1799889, APOE rs1412 and rs429358, FV rs6025 and rs1800595, and FII rs62623459. Significantly increased risk factors: hypertension and dyslipidaemia in stroke patients compared with the controls: 50.0 % vs 27.5 % and 75.0 % vs 40.0% (P = 0.039 and P = 0.002, respectively) were observed. Stroke patients compared with controls did not differ in distribution of ACE, APOE, FV, and FII variants. The 4G4G homozygotes of the PAI-1 gene were significantly more prevalent in stroke patients compared to the controls: 42.5 % vs 17.5 %, (P = 0.033). In the group with the small vessel occlusion subtype of stroke, statistically significant overrepresentation of 4G4G homozygotes and frequency of the 4G allele compared with controls: 57.1 % vs 17.5 % and 0.7 vs 0.45 (P = 0.026 and P = 0.03, respectively) were observed. Independent predictors of stroke incident were: dyslipidaemia (OR (95% CI) = 4.2 (1.4-12.4)) and 4G4G genotype (OR (95% CI) = 3.9 (1.1-13.7)). These results confirm the contribution of dyslipidaemia and 4G4G genotype in the increased risk of IS in young Bosnian adults.

Background: The 17q21.31 band is one of the most structurally complex and evolutionarily dynamic region of the genome. Frequencies of two SNPs: rs9468 and rs1800547 determine worldwide distribution of H1 and H2 haplotypes. Recent studies have demonstrated that H2 haplotype is ancestral in hominoids and under positive selection in European populations. The role of non-inverted orientation (H1 haplotype) and inverted orientation (H2) remains unclear, i.a. it is suggested that mothers who are H1H2 heterozygotes, tend to have more children than H2H2 homozygotes on average. Materials and methods: We investigated the prevalence of haplotypes of the 17q21 inversion in 154 women with pregnancy loss and 154 mothers with at last one live-born child, mean age: 33.0 (±5.4) y/o and 31.4 (±6.7) y/o, respectively. Following DNA extraction from buccal swabs, the genotyping was performed. All tests were performed using the R CRAN statistical software. Haplotypes were compared between groups. Results: In women with and without pregnancy loss we identified: 74.7% and 79.2% H1H1, 24.0% and 17.5% H1H2 and 1.3% and 3.3% H2H2 of haplotypes, respectively. There were no significant differences between the distributions of haplotypes in women with and without pregnancy loss. Statistically significant difference between the average number of children in women with H1H2 haplotype (navg. = 1.54) compared to women with H2H2 haplotype (navg. = 1.29), was not found. Conclusion: Haplotype H2 of the 17q21.31 inversion was not linked to pregnancy loss and number of children in Bosnian women.