Genetically Homogeneous or Heterogeneous Population - Distribution of the Recessive Allele in Selected Qualitative Characteristics of Selected Working-Age Population Sample.

Background: The genetic structure of each population can be explained according to the frequency of genes and their allelic variants, genotypes, and phenotypes. Objective: To analyze the genetic heterogeneity of the working-age population from the area of Sarajevo Canton based on classic genetic markers. The studied parameters of genetic heterogeneity were assessed by the relative frequency of the recessive allele for static-morphological traits (earlobe shape, chin shape, hairiness of the middle digital phalanx, bending of the distal phalanx of the little finger and digital index) and dynamic-morphological traits (rolling of the tongue into a groove, extensibility of the proximal thumb knuckle, extensibility of the distal thumb knuckle, the way the forearms are crossed, and the way the fists are made). Results: The results of the t-test showed a significant difference in the manifestation of the recessive homozygote for the observed parameters of qualitative variation in the subsamples of men and women. Only for two traits (attached earlobe and hyperextensibility of the distal knuckle of the thumb). The selected sample represent a relatively genetically homogenous population. Conclusion: This study serves as a valuable source of data for future research and the formation of a genetic database in Bosnia and Herzegovina.

Molecular-genetics analysis of 15 STR loci in sibship testing in isolated rural Bosnian population - the use of the grey zone.

Aim Examination of the effectiveness of STR loci in proving sibship of the Bosnian-Herzegovinian village of Orahovica and the formation of a "grey zone". Methods The probability of sibship was determined by calculating the likelihood ratio (LR) parameter for each of the 15 observed STR loci and for each of the pairs of relatives and non-relatives. Cumulative sibship index (CSI) was calculated for each of the pairs by multiplying the LR values of all 15 loci and obtained values are used as CSI limit for separating relatives from non-relatives. By creating a grey zone for local populations, an attempt was made to obtain a line of demarcation between siblings and non-siblings. Results An analysis of the origin of the respondents' relatives was performed, up to the level of sibship in the third generation. The results of the CSI for pairs of relatives from the village of Orahovica showed that the highest CSI value, and therefore the sibship probability was recorded among relatives from the village of Orahovica (CSI=534211727.203;SP=99.999999812%). On the contrary, incredibly low CSI value was recorded among non-relatives,ranging from CSI=0.0000001 to 0.5261434 (SP=0.000009999% to 34.475357951%). Conclusion For the threshold value CSI=1 and for CSI=3, this method determined sibship in 100% of pairs of relatives and the absence of biological sibship in 100% of pairs of non-relatives in the village of Orahovica. The STR system is proved to be a successful method in determining sibship or absence of sibship in small local populations.

Morphometric analysis of clinically significant parameters of the main trunk of the left coronary artery.

Aim To determine the value of angles between the left coronary artery main trunk (LMT) and its branches, the anterior interventricular branch (LAD) and the circumflex branch (CX), and their possible relationship with the LMT length. Methods A total of 29 cadaveric hearts were used. The left coronary artery and its branches were dissected. The hearts were then classified according to the number of branches. The LMT length was measured with a digital gauge, and the LAD-CX angle, LMTLAD angle and LMT-CX angle with a manual goniometer. Results The average value of the LMT length was 9.0 mm (6.0-13.5). In 20 (68.97%) samples, the LMT was divided into two terminal branches. There was no statistically significant difference (p=0.321) in LMT length between the hearts with a bifurcation and without it. The average value of the LAD-CX angle was 89.0° (74.5-93.0), with a statistically significant difference (p=0.020) comparing to hearts with trifurcation. The mean value of the LMT-LAD angle was 30.83±9.23° and it was significantly lower (p=0.006) in the group of hearts with bifurcation compared to the group with trifurcation of the main trunk. Conclusion The LMT length shows great variability and is not related to the LAD-CX, LMT-LAD or the LMT-CX angle. Knowledge of the left coronary variation is essential in order to avoid misinterpretation of arteriogram.

The Diagnostic Value of Combined 24-h BP and ECG Holter Monitoring in Detection of Cardiac Arrhythmias in Patients with Arterial Hypertension.

Background: Arrhythmias are common problems in hypertensive patients. The presence and complexity of both supraventricular and ventricular arrhythmias may influence morbidity, mortality, as well as the quality of life of patients. Objective: The aim of this study was to assess the diagnostic value of combined 24h BP and ECG Holter monitoring in detection of cardiac arrhythmias in patients with arterial hypertension. Methods: We analyzed the simultaneous records of combined 24h BP and ECG Holter monitoring for 356 adult patients with diagnosed arterial hypertension in the period from January 2017 until January 2021 year. The cardiac arrhythmias were classified in three main groups as following: a) Supraventricular arrhythmias; b) Ventricular arrhythmias; c) Bradyarrhythmia's. Standard transthoracic echocardiograms were performed in order to evaluate signs of hypertensive or structural heart disease with focus on left ventricle hypertrophy and LV function. Results: Patients had a mean age of 64 ± 11years, 62% male. Average clinic BP was 153.4+18/87.5+14 mmHg. More than 46% of patients displayed a very high-risk profile. In all enrolled patients, cardiac arrhythmia was detected in 302 (84%) patients. The total number of patients with supraventricular arrhythmias was 153 (50,7%). Ventricular arrhythmias were detected in 98 (32,5%) patients. Bradyarrhythmia's were detected in 51 (16,9%) patients. Elevated resting heart rate in sinus rhythm was detected in 87 (31,6%) of 275 patients with sinus rhythm. Conclusion: Most arrhythmias are related to longstanding arterial hypertension. Effective treatment of arterial hypertension plays important role in preventing structural and functional cardiac abnormalities which will contribute to the reduction of cardiac arrhythmias in hypertensive patients.

Types and Frequency of Errors in the Pre-Analytical Phase in the Clinical Laboratory - Single Center Study from Bosnia and Herzegovina.

BACKGROUND: The pre-analytical phase, which includes all preparatory actions to the analytical procedure, is part of the process during which there is the greatest possibility of laboratory errors. This study was conducted to investigate the frequency and types of laboratory errors during work in the clinical laboratory as well as the frequency and types of laboratory errors in the pre-analytical phase of laboratory work. METHODS: The retrospective, descriptive study covered the period from 01/01/2016 to 12/31/2016 within which the presence of 5 different indicators of quality of work, i.e., pre-analytical errors, was monitored: improperly drawn blood, coagulated blood sample, hemolyzed blood sample, improperly marked referral for analysis, and insufficient sample for analysis. RESULTS: The most common error in the pre-analytical phase of our study was "coagulated sample", followed by: "improperly drawn blood", "improperly marked referral", "insufficient sample for analysis", and "hemolyzed sample". Using the chi-squared test, a statistically significant difference was found in the frequency of occurrence of certain types of indicators in different departments (p < 0.005). CONCLUSIONS: Reduction of these errors can be achieved through analyzing and correcting the reasons for them, education, and by joint action of experts and international organizations, continual training of staff as well as to following the adopted guidelines and standards.

Serum Creatinine versus Corrected Cockcroft-Gault Equation According to Poggio Reference Values in Patients with Arterial Hypertension.

Introduction: Serum creatinine is not enough sensitive marker for the evaluation of glomerular filtration rate (GFR). Cockcroft-Gault (CG) formula is often used to assess GFR, but it is necessary to correct original one for body surface area (BSA), adipositas, and the creatinine tubular secretion. The values of the estimated creatinine clearance and GFR are considered to Poggio reference ones according to biological parameters (age and gender). The aim of the study was to determine the difference in renal function estimation between serum creatinine and corrected CG equation according to the Poggio reference values in the arterial hypertension patients. Materials and Methods: The research included 124 patients of both gender with arterial hypertension, excluding ones with the already verified chronic kidney disease. We estimated creatinine clearance and GFR by CG method corrected for the BSA, body mass index (BMI), and the creatinine tubular secretion according to Poggio reference values. Results: There was no significant difference in both age and gender groups among patients with physiological and pathological values of the renal function determined by the serum creatinine and estimated creatinine clearance by CG equation corrected for BMI, BSA. In both age and gender groups there was significant difference among subjects with physiological and pathological values of the renal function determined by serum creatinine and estimated GFR by CG method corrected for BMI, BSA, and creatinine tubular secretion. Conclusion: There is the most striking difference in the assessment of renal function between serum creatinine and estimated GFR by CG method with three corrections (BSA, BMI, the creatinine tubular secretion). Estimated GFR by CG method with three corrections can help in the early diagnosis of renal dysfunction and optimal treatment in patients with arterial hypertension.

Population-genetic Aspects of Breast Cancers and Association with Rh Factor in Selected Sample.

BACKGROUND: Breast cancer in women is the second most common and accounts for approximately 18% of all malignant tumors in women worldwide. The etiology of breast cancer is not clear enough. Starting from the assumption that the manifestation of breast cancer may have a multifactorial model, this article compares the population-genetic structure of patients (experimental group) with the population-genetic structure of healthy population (control group). OBJECTIVE: The aim of the study was to examine the possible genetic basis of the Rh factor relationship with selected homozygous-recessive traits of females with breast cancer, and to diagnose the probability (assess the risk) of developing the disease in healthy women by analyzing homozygous-recessive traits (HRT). METHODS: This are an anthroposcopic-qualitative study that included two groups of subjects, experimental and control (a total of 80 subjects). An analysis of the percentages within each group was performed using the Chi-square test. The results are presented in tables, and the accepted level of significance is at the level of p <0.05. RESULTS: In the group of Rh+ subjects, the correlation of this type of Rh factor with the breast cancer was proven, given the frequency of the phenotype of homozygous-recessive traits in them. A statistically significant difference was found for 4 traits, and three are also close to the set significance level. In subjects with Rh- factor, a statistically significant difference was found for only one trait (absence of mallets on the phalanges). CONCLUSION: Although the number of subjects was relatively small, we can conclude that in the experimental group a higher frequency of recessive phenotypes for the examined traits was recorded, which indicates the genetic load of the subjects from this group. Correlation with Rh factor was observed in the case of subjects of the experimental group with Rh+ factor.

Predictive Analysis of Palmar Dermatoglyphics in Patients with Breast Cancer for Small Bosnian-Herzegovinian Population.

INTRODUCTION: Malignant breast cancer is the most common malignancy in women between 40 and 55 years of age. Dermatoglyphs are polygenetically determined properties, whose appearance and number are determined by a specific gene. They represent the skin reefs that are created by epidermis on the fingers or toes, palms and soles. Palmar dermatoglyphs have been used to estimate the hereditary basis of many diseases. AIM: The aim of the paper is to determine whether there is a statistically significant difference between the observed qualitative and quantitative parameters of both palms between the experimental and the control group. MATERIAL AND METHODS: A survey of the qualitative and quantitative properties of the palmar complex was carried out on a total of 100 female respondents. The first group included 50 women with breast cancer. Comparative data were used for the analysis of palmar dermatoglyphs in the second group of respondents, or 50 phenotypic healthy female subjects. The imprints of the palmar complex were taken using the printake ribbons, analyzed, and the data was then statistically processed and displayed in charts. An analysis of the number of reefs between two digital triradius was performed, followed by the determination of the axially triad position, as well as the ATD angle measurement. RESULTS: Quantitative analysis of ATD-angle showed statistically significant difference between the left and right palms of the analyzed groups. However, the analysis of the number of reefs between triradius A-B, B-C, C-D did not show statistically significant results for both the left and right hand between the analyzed groups. CONCLUSION: These results indicate that the quantitative palmar parameter, ATD-angle, can play a role in identifying women with increased risk of breast cancer.

Elevated Serum C-Reactive Protein Level Is not Associated with Serum Nitric Oxide in Patients with Posttraumatic Stress Disorder.

BACKGROUND: The aim of the present study was to evaluate serum nitric oxide (NO) and C reactive protein (CRP) concentration in veterans with and without PTSD. Furthermore, we aimed to assess whether there is a correlation between serum NO and CRP concentrations in tested groups. SUBJECTS AND METHODS: Cross-sectional study included 90 male individuals, with and without experience of direct war combat, divided into three equal groups (n=30): group 1- included war veterans with PTSD, group 2 - included war veterans without PTSD, and control group - 30 apparently healthy volunteers, without experience of direct war combat. The diagnosis of PTSD was assessed according to the guidelines in the 10th revision of the International Classification of Diseases (ICD-10). High-sensitivity CRP was determined by immunonephelometry. The serum NO level was determined by classic colorimetrical Griess reaction. RESULTS: Serum CRP concentration in veterans with (3.54±1.19 mg/L) and without PTSD (3.24±2.04 mg/L), was significantly higher (p<0.05) compared to control group (1.26±1.06 mg/L). Serum NO concentration in veterans with (7.64±4.43 µmol/L) and without PTSD (7.12±2.60 µmol/L) was significantly lower (p<0.05) compared to control group (11.26±7.01 µmol/L). Statistically significant correlation between serum NO and CRP concentration was determined in veterans without PTSD (r=-0.473; p<0.01). No correlation was observed between serum NO and CRP concentration in veterans with PTSD (r=0.118; p=0.534) and in control group (r=-0.067; p=0.727). CONCLUSION: The present study has showed significant increase of serum CRP and significant decrease of serum NO concentrations in veterans with and without PTSD. Furthermore, statistically significant negative correlation between serum NO and CRP concentration was determined only in veterans without PTSD. Obtained results indicate that the complex mechanism of the pathogenesis of PTSD requires further research.

The Cumulative Incidence of Stroke, Myocardial infarction, Heart Failure and Sudden Cardiac Death in Patients with Atrial Fibrillation.

INTRODUCTION: Atrial fibrillation represents the most common cardiac arrhythmia in clinical practice. By year 2030, 14-17 million AF patients are anticipated in the European Union. Atrial fibrillation remains one of the major causes of stroke, heart failure, sudden death all over the world. RESEARCH OBJECTIVES: The objective of our study is to determine the cardiac and cerebrovascular events (myocardial infarction, heart failure, stroke, sudden cardiac death) and their cumulative incidence during 11 years follow up period. PATIENTS AND METHODS: This study includes 2352 ambulant and hospitalized patients with atrial fibrillation (AF) who were enrolled during the follow up period. All patients underwent clinical evaluation in order to determine cardiac and cerebrovascular events (myocardial infarction, heart failure, stroke, sudden cardiac death) and their cumulative incidence. RESULTS: The results of cumulative incidence for sudden cardiac death was 1.71%, for stroke 2.56%, for myocardial infarction 1.20% and for heart failure was 5.73%. In our study the age-adjusted incidence and prevalence of AF are slightly lower in women. The study shows that the risk of death is higher in females than in males with AF. CONCLUSION: Despite good progress in the management of patients with atrial fibrillation (AF), this arrhythmia remains one of the major causes of stroke, heart failure, sudden death. Effective treatment of patients with atrial fibrillation includes not only rate control, rhythm control, and prevention of stroke, but also management of cardiovascular risk factors and concomitant diseases.

The Impact of Risk Factors and Comorbidities on The Incidence of Atrial Fibrillation.

INTRODUCTION: Atrial fibrillation (AF) is the most common form of cardiac arrhythmia in clinical practice and its prevalence increases with age. Patients who develop AF also have cardiovascular risk factors, structural heart disease, and comorbidities, all of which can increase mortality. AF causes a significant economic burden with the increasing trend in AF prevalence and hospitalizations. RESEARCH OBJECTIVES: The objective of our study is to evaluate the impact of the most common known risk factors on the incidence of atrial fibrillation as an important precursor of cardiac and cerebrovascular morbidity and mortality among our patients in Bosnia and Herzegovina during median follow up period (September 2006 - September 2016). The other objective is to estimate the CHA2DS2-VASc score among our patients based on clinical parameters. PATIENTS AND METHODS: This study includes 2352 ambulant and hospitalized patients with atrial fibrillation. All patients underwent clinical evaluation which includes thorough assessment for potential risk factors and concomitant conditions in order to determine which of them represent the most common among examinees with atrial fibrillation. RESULTS: The results show that male gender has slightly more incidence of AF. Obesity and overweight with BMI ≥ 27, cigarettes smoking and sedentary life style are almost present in patients with AF. Arterial hypertension, coronary artery disease, diabetes mellitus, chronic obstructive pulmonary disease, chronic renal dysfunction, structural and valvular heart disease and peripheral vascular disease are the most common comorbidities among our patients. The mean CHA2DS2-VASc score was 3.2±1.4 and the mean HAS-BLED score was 2.1±1.2. CONCLUSION: Atrial fibrillation is the most common sustained cardiac rhythm disorder. The study shows that obesity, alcohol consumption, smoking cigarettes and dyslipidemia can be considered as triggers and predisposing factors for appearance of AF. Arterial hypertension, coronary artery disease, chronic obstructive pulmonary disease, diabetes mellitus, Peripheral vascular disease and chronic kidney disease are playing important role in developing of AF.

Metabolic Syndrome and Serum Liver Enzymes Level at Patients with Type 2 Diabetes Mellitus.

OBJECTIVES: The aim of this study was to evaluate liver function in patients with type 2 diabetes mellitus (T2DM) with and without metabolic syndrome (MS) by determining serum levels of gamma glutamyltransferase (GGT), alanine aminotransferase (ALT) and aspartate aminotransferase (AST). We also investigated correlation between levels of liver enzymes and some components of MS in both groups of patients. METHODS: This cross-sectional study included 96 patients (age 47-83 years) with T2DM. All patients were divided according to the criteria of the National Cholesterol Education Program (NCEP) in two groups: 50 patients with T2 DM and MS (T2DM-MS) and 46 patients with T2DM without MS (T2DM-Non MS). The analysis included blood pressure monitoring and laboratory tests: fasting blood glucose (FBG), total lipoprotein cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), triglyceride (TG), fibrinogen and liver enzymes: GGT, ALT and AST. T2DM-MS group included patients which had FBG ≥ 6,1 mmol/L, TG ≥ 1,7 mmol/L and blood pressure ≥ 130/85 mm Hg. RESULTS: T2DM-MS patients had significant higher values of systolic blood pressure, diastolic blood pressure and medium arterial pressure compared to T2DM-Non MS patients. Serum levels of TC, TG, LDL-C, VLDL-C and FBG were significantly higher in the T2DM-MS group compared to the T2DM-Non MS group. Serum fibrinogen level and GGT level were significantly higher in patients with T2DM-MS compared to the serum fibrinogen level and GGT level in T2DM-Non MS patients. Mean serum AST and ALT level were higher, but not significantly, in patients with T2DM and MS compared to the patients with T2DM without MS. Significant negative correlations were observed between TC and AST (r= -0,28, p<0,05), as well as between TC and ALT level (r= -0,29, p<0,05) in T2DM-MS group of patients. CONCLUSION: These results suggest that patients with T2DM and MS have markedly elevated liver enzymes. T2DM and MS probably play a role in increasing the risk of liver injury.

Correlation of arterial hypertension and type 2 diabetes mellitus with type of polyvascular atherosclerotic disease.

UNLABELLED: Atherosclerosis is a systemic disease of blood vessels which in most of the cases affects two or three vascular beds. The occurrence and development of atherosclerotic disease is accelerated by multiple risk factors among which the significant role has arterial hypertension and diabetes mellitus. AIM of this article is to evaluate presence of hypertension and diabetes mellitus type 2 in patients with polyvascular atherosclerotic disease and compare them to those who have isolated disease of one vascular bed. MATERIAL AND METHODS: we enrolled total of 160 consecutive patients. Patients were divided into 4 groups, in relation to the type of their atherosclerotic disease. COR-group included patients with coronary atherosclerotic disease, CAR-IF group included patients with carotid and iliac-femoral atherosclerotic disease, COR-IF group consists of patients with coronary and iliac-femoral atherosclerotic disease, and COR-CAR-IF group consists of patients with atherosclerotic disease in three vascular beds: coronary, carotid and iliac-femoral. We followed clinical variables: age, gender, arterial hypertension, tobacco smoking, total cholesterol and diabetes mellitus with focus on arterial hypertension and diabetes mellitus. RESULTS: we had significant percentage of patients with arterial hypertension in all four groups in relation to those with normal blood pressure. Hypertension in male subjects was significantly higher in those with polyvascular disease i.e. COR-CAR-IF, and COR-IF groups, compared to monovascular disease i.e. COR group, (p < 0.05). In females the prevalence of hypertension was significantly higher in COR-CAR-IF and COR-IF groups, (< 0.05). Males had higher systolic values in the COR-CAR-IF group compared to other groups, but only signif. differ. was between COR-CAR-IF group vs. CAR-IF group, (p < 0.05). In females we found signif. differ. in systolic values in COR-CAR-IF group compared to COR group, p < 0,05. In diastolic values we found no signif. differ. between groups. The significant percentage of diabetics was in COR-CAR-IF group (77.5%), and the difference to other groups was statistically significant, p < 0.05. We found significant percentage of diabetics in COR-CAR-IF group (77.5%), and the difference between the diabetics versus non-diabetics was statistically significant. The largest percentage of diabetics both men (76.1%) and women (84.2%) belonged to the patients with polyvascular disease i.e. COR-CAR-IF group respondents. CONCLUSIONS: prevalence of arterial hypertension and type 2 diabetes mellitus was statistically higher in individuals with polyvascular atherosclerotic disease.