The 17q21.31 band is one of the most structurally complex and evolutionary dynamic regions of the genome. Frequencies of two single nucleotide polymorphisms (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 population. The role of non-inverted orientation (H1 haplotype) and inverted orientation (H2) remains unclear, where it is suggested that mothers who are H1H2 heterozygotes on average tend to have more children than H2H2 homozygotes. We investigated the prevalence of the inverted 17q21 haplotype 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. All 308 women were of Bosnian origin from Sarajevo. Following DNA extraction from buccal swabs, the genotyping was performed. For statistical analysis R CRAN software was used. Haplotypes distribution was compared between groups. 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 haplotypes. 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) in comparison to women with H2H2 haplotype (navg. = 1.29), was not found. Haplotype H2 of the 17q21.31 inversion was not linked to pregnancy loss and number of children in Bosnian women.
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.
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%).
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.
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.
Migration of distal ventriculoperitoneal (VP) shunt catheter into another body part has been described as a potentially serious surgical complication. We present the first case of sepsis caused by ...transcardial and pulmonary migration of a distal catheter into the heart and pulmonary artery, which was subsequently colonized by Klebsiella pneumoniae.
A 56-year-old man underwent VP shunt insertion for hydrocephalus that developed after the surgery for intracranial meningioma. Three years later, he was admitted to department for infectious diseases because of persistent fever. Klebsiella pneumoniae was isolated from the blood cultures. Computed tomography (CT) of the thorax showed migration of the distal catheter into the heart and pulmonary artery. The migrated shunt catheter was retrieved without any complication with the assistance of a cardiovascular surgeon; microbiologic analysis confirmed that the catheter was colonized with K. pneumoniae. We decided to delay new VP shunt placement because of the positive blood cultures, and 3 weeks after the surgery, the patient was without signs of increased intracranial pressure and without any heart problems.
Migration of a distal VP shunt catheter into the heart should be considered in patients with a previously placed VP shunt presenting with cardiopulmonary problems, arrhythmia, and/or fever. Neurosurgeons should be involved as soon as possible, and a multidisciplinary approach is warranted.
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.
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.
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.
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.
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.
Celotno besedilo
Dostopno za:
DOBA, FSPLJ, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
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.
Aim
To investigate the serum value of brain derived neurotrophic factor (BDNF), proteins S-100, NSE, IL-6 in normal pressure patients (NPH) compared to control (healthy) group and also a possible ...correlation with radiological findings in NPH patients.
Methods
Study patients were included during the period of 2020-2022. All NPH patients met the diagnostic criteria for probability
of NPH. Control patients group included patients without known brain disorder, without clinical symptoms of NPH. Blood samples were taken before planned surgery for NPH. BDNF serum concentrations were assessed by a sensitive ELISA kit, and serum concentrations of S-100, NSE and IL-6 were assessed by using ECLIA technology for immunoassay detection.
Results
Among 15 patients who were included, seven NPH patients were compared to eight control patients. Non-significant
decrease in BDNF serum concentrations, an increase of protein S-100 serum concentrations, a decrease of NSE serum concentrations, as well as an increase of IL-6 serum concentrations in NPH patients compared to healthy controls was found. Strong positive correlation between BNDF and Evans index was observed (p=0.0295).
Conclusion
We did not find a significant difference of BDNF, protein S-100, IL-6 and NSE between serum concentration in NPH
and healthy patients. More future research is needed to find the
role of BDNF in NPH patients.
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.
Objective. We present a case of relapsing tumefactive demyelination in a young female patient, that posed a real diagnostic challenge, with a heterogeneous clinical picture, atypical for multiple ...sclerosis (MS) presentation, and neuroradiological manifestations with a high suspicion of neoplastic diseases.Case Report. An 18-year old female patient presented to our Neurosurgical Out-patients’ Clinic with symptoms atypical for multiple sclerosis, unremarkable neurological deficit, one tumefactive lesion on MRI, followed by relapse and another two lesions within a period of six months. We decided to perform biopsy of the tumefactive lesion with compressive effect. Serological and clinical data were negative for MS, and the patient did not respond well to corticosteroid therapy. Fresh frozen tumor tissue aroused a strong suspicion of gemistocytic astrocytoma, so total resection was done, but the definitive pathohistological examination confirmed tumefactive demyelination.Conclusion. For clinicians, it is important to consider demyelinating disease in the differential diagnosis of a tumorlike lesion of the central nervous system, in order to avoid invasive and potentially harmful diagnostic procedures, especially in younger patients.
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.
PDF
