Polymorphisms rs562556 and rs2479409 of the PCSK9 gene associated with obesity and cardiovascular disease.

OBJECTIVE: The primary objective was to comprehensively assess the association between single nucleotide polymorphisms (rs562556 and rs2479409) in the PCSK9 gene with biochemical parameters - C-reactive protein (CRP), glucose (GLU), triglyceride (TAG), low-density lipoprotein cholesterol (LDL CHOL), non-high-density lipoprotein cholesterol (non HDL CHOL), high-density lipoprotein cholesterol (HDL CHOL), cholesterol (CHOL), and anthropometric parameters (visceral fat), overweight/obesity and cardiovascular risk. METHODS: A total of 71 women aged 23-64 years were divided into three groups based on body mass index (BMI). BMI ≥ 25/≥ 30 kg/m2 was the criterion for assessment of overweight/obesity. Anthropometric, biochemical and genetic examinations were performed on the probands. Changes in markers in each group and their association with cardiovascular risk were monitored. RESULTS: We can conclude that in our study population we observed differences between the BMI categories for biochemical markers (CRP, LDL CHOL, non HDL CHOL, HDL CHOL, LDL CHOL) and anthropometric marker (visceral fat). Atherogenic index of plasma (AIP), Castelli's Risk Index I (CRI-I) and atherogenic coefficient (AC) confirmed high cardiovascular risk for the obese women category (0.045); (< 0.013); (< 0.010). Genotype and allele frequencies for the PCSK9 gene in the overweight and obese groups showed higher allele frequencies of allele A for both polymorphisms of the gene. CONCLUSIONS: PCSK9 gene expression is associated with biological processes such as lipid metabolism and inflammation. Cholesterol-lowering therapies are the gold standard for reducing the risk of cardiovascular mortality and morbidity. Administration of monoclonal antibodies (mAbs) against PCSK9 is a novel lipid-lowering therapeutic approach in adults to reduce the risk of cardiovascular disease.

Prevalence of COVID-19 antibodies in employees of St. Jacob Hospital in Bardejov.

OBJECTIVE: The COVID-19 disease caused by the SARS-CoV-2 virus belongs to the group of highly infectious diseases with increased mortality and morbidity in the population. Finding the presence of antibodies plays an important role while finding the number of individuals who overcame the disease or were vaccinated. METHODS: A total of 250 employees of St. Jacob Hospital with Polyclinic, Bardejov, participated in our study, the blood samples were drawn from the index finger and processed with the help of the rapid Ag test for the detection of antibodies and venous blood using the ELISA method. The health workers (doctors, nurses, medical laboratory technicians, laboratory diagnosticians) tested during September and October 2022 participated in our study. RESULTS: Our experimental study shows the presence of IgG antibodies in 215 (86%) of employees, who get them from overcoming the COVID-19 disease or getting vaccinated. In 17 (6.8%) of employees were detected IgG and IgM antibodies. The biggest number of IgG antibodies was found in 36 (78%) employees of the Surgical Department, 28 (84%) employees of Rehabilitation Department and 25 (89%) employees of the Internal Department, when compared with the Department of Laboratory Medicine 9 (30%) employees and Radiology Department 4 (44%) employees. CONCLUSION: Multiple prevalence of COVID-19 disease were found in employees of the internal, surgical and rehabilitation departments in whom we detected a higher presence of IgG antibodies. In department of laboratory medicine workers were proven lower levels of IgG antibodies, mainly for the limited contact with the positive covid patients and working with only their biological material, compared to the first-line employees exposed to direct contact with the patients.

Diabetes mellitus and its influence on the incidence and process of diabetic retinopathy.

OBJECTIVES: The main aim of the study was to show the effect of diabetes in relation to the gender of the patients, duration of the disease, and on the incidence of diabetic retinopathy. In this study, we investigated the prevalence of these two diseases, pathological ocular changes and progression of disease occurrence in relation to the duration of the disease with respect to their impact on the quality of vision of the patient. METHODS: The prospective observational cross-sectional study included 3,951 patients (1,838 males, 2,113 females) with diabetes mellitus from 7 districts of eastern Slovakia. Patients with diabetes mellitus and diabetic retinopathy were identified by special screening in the number of 2,093 (1,094 females and 999 males). Subjects were divided by sex and by duration of diabetes into 5 groups: patients with diabetes under 5, 10, 15, 20, and over 20 years. We differentiated between proliferative and non-proliferative forms of diabetic retinopathy and monitored changes in visual quality. Manifestations of pathological changes were recorded using special examination methods in the eye clinic. We observed a decrease in vision by two lines, pathological changes on the retina and the occurrence of practical blindness. RESULTS: Of the total number of diabetic patients examined, diabetic retinopathy was also present in more than half of the patients. The major form represented in the patients was the non-proliferative form of retinopathy. The obtained results confirmed that the representation of patients with diabetic retinopathy increases with increasing duration of diabetes. Similarly, pathological changes characteristic of this type of late complication of diabetes were also more frequent, such as deterioration of visual acuity, the appearance of aneurysms, hard exudates macular edema, and gradual loss of vision, which can result in practical blindness. CONCLUSION: The percentage of people with diabetic retinopathy increases with the duration of diabetes, as well as the increased frequency of pathological late complication of diabetes, including deterioration of visual acuity, the development of aneurysms, hard exudates, macular oedema, and gradual loss of vision, which can result in practical blindness. Early diagnosis of the disease and introduction of appropriate treatment would alleviate the symptoms of the disease in more than half of the patients, so more frequent preventive check-ups with an ophthalmologist should be performed in diabetic patients to avoid detection of the disease in its late stages.

Monitoring of selected anthropometric and biochemical parameters in men and women in Bardejov District.

OBJECTIVES: Metabolic and cardiovascular diseases represent a significant and ever-increasing problem, accounting for nearly one-third of all deaths and leading to significant morbidity. Lifestyle changes, which introduce new risk factors for cardiovascular disease, are leading to an increase in the risk of cardiovascular disease worldwide. The burden of cardiovascular disease can be reduced by careful risk reduction, and as such, primary prevention is an important priority for all. There is strong consensus among international guidelines regarding the necessity of smoking cessation, weight optimization, and the importance of exercise, while guidelines differ slightly in their approach to hypertension and vary greatly in their approach to the optimal lipid profile, which remains a controversial issue. METHODS: The work is focused on the analysis of biochemical (glucose, cholesterol and triacylglycerols) and anthropometric (body mass index) parameters in selected probands (n = 140), including men (n = 70) and women (n = 70) in the Bardejov district. Probands were divided into groups depending on age (18-38, 39-50, 51-60, and over 61 years). For statistical evaluation, the program Statistica ver. 12 and ANOVA were used. RESULTS: The results of the study showed statistically significantly higher values of BMI, total cholesterol (TC), triacylglycerides (TG), and glucose (GLU) (p < 0.001) between men and women in the age groups (18-38 years, 39-50 years). In probands from the age group 51-60 years and over 61 years, we found a high level of cholesterol above the reference limit, but a significant difference between men and women was not confirmed. Correlation analysis confirmed the positive correlation between glucose and BMI. CONCLUSION: Differences in risk-factor (e.g., biochemical and anthropometrics) burden translate into marked differences in the lifetime risk of cardiovascular disease. These differences are consistent across age groups.

Health literacy and patient rights awareness in ethnic Hungarian mothers in Eastern Europe.

OBJECTIVES: The paper proposes to identify the determinants of patients' rights awareness in mothers and to examine the relationship of health literacy with awareness of those rights. METHODS: Our results are based on data from a convenience sample of 894 non-health professional ethnic Hungarian mothers from Hungary, Romania and Slovakia. Health literacy is measured with the HLS-EU-16 questionnaire. RESULTS: Analysis of variance reveals a significant association of health literacy with patient rights awareness. Our results show that health literacy is the highest among patients who filed a complaint through formal channels and/or took legal measures to restore their rights upon violation. A logistic regression model is built to identify the likelihood of having high patient rights awareness, that is, acting formally for the restoration of rights upon infringement. The model controls for covariates. When controlled for covariates, the likelihood of having high patient rights awareness increases with age, and is higher for mothers with highest education, for inhabitants of larger towns, as well as for those with adequate health literacy. CONCLUSIONS: The findings of our study have implications for health policy, as they reveal significant inequalities in patient rights culture.

Prevention aid in qualitative analysis of dermatoglyphic patterns in relation to type 2 diabetes mellitus: a pilot study.

OBJECTIVES: The significant differences in the fingerprint pattern frequencies in type 2 diabetes mellitus (T2DM) patients and controls could be a possible way to identify patients with a risk of developing T2DM. The results could be used in the earlier diagnosis and treatment. The study was undertaken to find out the reliability of fingerprint patterns as a possible predictive tool for T2DM diagnosis. METHODS: A total of 1,260 fingerprints were acquired using the optical contact sensor DactyScan 26i. The results of the qualitative analysis of the fingerprint pattern frequencies have been compared between T2DM patients and controls and also between the fingers to each other. We have detected the frequency of patterns: plain arch (Ap) and tented arch (At), radial loop (Lr), ulnar loop (Lu), double loop (Ld), spiral whorl (W), and plain whorl (concentric) (Wp). Statistical analysis was performed using Pearson's chi-square by Statistica ver. 12. RESULTS: We found statistically significant differences (p < 0.05) in the frequency of individual dermatoglyphic patterns among patients with diabetes and healthy controls as follows: in the left thumb (L1) in a radial loop, double loop and spiral whorl pattern; in the left middle finger (L3) in a tented arch and radial loop; in the right ring finger (R4) in a tented arch, spiral and plain whorl; and in the right little finger (R5) in a tented arch and spiral whorl. CONCLUSION: Fingerprint pattern frequencies might be used as another screening tool and indicator in T2DM prevention. Qualitative analysis of fingerprint patterns could be useful regarding the additional prevention diagnostics of T2DM in the population.

Self-rated health status and hygienic behaviour of pregnant women in Hungary during the pandemic.

OBJECTIVES: The aim of our research was to investigate the self-rated health status, health behaviour and hygiene habits of pregnant women, and to explore the influencing factors during the pandemic. METHODS: The sample included 1,200 pregnant women who gave birth in the most progressive institutions of the three examined counties in Hungary; 839 questionnaires were returned, based on which the willingness to answer can be said to be 69.9%. After data cleaning, 640 questionnaires were added to the database. Descriptive statistical analyses and correlation tests were performed, during which we used the Pearson's chi-square test and Fisher's exact test. RESULTS: Socio-demographic factors show a significant correlation with the perceived state of health and the degree of responsibility for health, however, the existence of a chronic disease does not affect either the self-assessed state of health or hygienic behaviour. Factors influencing hygienic behaviour include residence, education, assessed income, and gestational age. We found no correlation between health status and hygienic attitude. CONCLUSIONS: Our results draw attention to the fact that among pregnant women - especially pregnant women with low socioeconomic status - education about hygiene habits is of particular importance. Teamwork is needed in this area, which should start during the period of preparation for pregnancy, but at the latest in the early stages of pregnancy.

Assessment of foot arch shape and health status of adult population from Eastern Slovakia.

BACKGROUND: The purpose of this study was to determine the foot arch shape and the associated health status in a selected sample of individuals belonging to the adult majority population of eastern Slovakia and to evaluate which of the observed factors are involved in the occurrence and development of foot arch abnormalities. METHODS: The weight and height of probands were measured according to standard anthropometric methods using a personal scale and an anthropometer. The BMI index was calculated for each proband from the measured data. A Pod4Foot Classic podoscope was used to obtain the plantograms. The Chippaux-Smirak index method was used to evaluate the plantograms. The study includes a questionnaire containing questions about factors affecting the foot arch shape. RESULTS: The arch of the right foot was supported by the effect of wearing shoes at home (p = 0.013). There was an association between wearing high-heeled shoes and foot arch disorder, both on the right (p = 0.011) and left (p = 0.045) foot. There was no significant relationship between the prevalence of overweight or obesity, between wearing orthopaedic insoles in shoes without a prescription, wearing orthopaedic footwear at home, between sport or static and active work and foot arch disorder in our study. CONCLUSIONS: Most of the probands had a bilaterally normal arched foot, which is a positive result. Nowadays, there are a large number of orthopaedic devices on the market that help to shape the arch of the foot properly, but it is not correct to use these devices arbitrarily, without a doctor's prescription and a diagnosis of foot arch deviation.

Nutrition habits and physical activity of disabled adolescents in Hungary.

OBJECTIVES: The overall aim of the research is to gain insight into the lifestyle and health behaviour of young people with disabilities aged 12-18 years, and to learn about the factors shaping their health. In this study, our aim was to investigate the eating habits and physical activity of adolescents with disabilities and the influencing factors. METHODS: The study's source population was young people aged 12-18 with disabilities in the Szabolcs-Szatmár-Bereg County. A total of 239 completed questionnaires were processed and analysed. Boys were overrepresented in the study. RESULTS: The results show that inadequate eating habits also exist in the population we studied, the consumption of certain foods correlates with the education level of parents. A more secure social background is a protective factor in terms of physical activity. The survey was made with the aim of intervention much needed. With precise knowledge of the health behaviour of the target group, our goal is to develop a complex intervention programme adapted to the needs of children with disabilities. CONCLUSION: The eating habits of adolescents with disabilities in the Szabolcs-Szatmár-Bereg County are unsatisfactory. Experience and results show that differentiated health promotion of young people with disabilities is necessary.

Use of bioimpedance in prevention of sarcopenia in the elderly.

OBJECTIVES: Physiological ageing is associated with major and progressive changes in body composition, particularly in the decline of fat-free mass, which puts older individuals at risk of geriatric syndromes such as sarcopenia and sarcopenic obesity. Bioimpedance analysis noninvasively allows the determination of body composition, thus being able to rapidly assess primary risk factors leading to sarcopenia prediction. METHODS: We conducted a study of 180 probands, 120 females (66.7%) with a mean age of 76.23 (SD = 9.29) years and 60 males (33.3%) with a mean age of 74.01 (SD = 8.99) years in cooperation with facilities for the elderly and with the inpatient department of the clinics of J.A. Reimann Hospital in Presov. Body height, body weight, hip circumference, and waist circumference were determined by the anthropometric method, from which the values of the body mass index and waist-to-hip ratio were calculated. Active body mass, total body water, extracellular body water, intracellular body water, cell mass, body mass fat, body fat index, fat-free mass index, impedance at frequencies of 50 kHz, resistance, reactance, and phase angle were determined using the Quadscan 4000 Touch bioimpedance instrument. Appendicular skeletal muscle mass (ASMM) and muscle mass (ASMM/Ht2) were calculated. The data obtained from anthropometric and bioimpedance measurements were processed in MS Excel 2000 and STATISTICA ver. 12. The difference of means in the studied groups was tested by the t-test. RESULTS: Presarcopenia was diagnosed in 12 (6.66%) probands out of 180 probands, of which were 3 (5%) men and 9 women (7.5%). Phase angle, ASMM and ASMM/Ht2 values were significantly lower (p < 0.001) in men and women with presarcopenia. CONCLUSION: By introducing bioimpedance measurements into practice, it is possible to obtain results in a non-invasive way revealing possible presarcopenia in the elderly.

Initial screening of the rs104893657 variant of the PAX8 gene in women with hypothyroidism from Northeastern Slovakia.

OBJECTIVE: Thyroid diseases are among the most common endocrinopathies and metabolic disorders. Hypothyroidism is caused by insufficient production of thyroid hormones with a higher prevalence in women. Causes for the development of endocrine diseases may be mutations in genes that encode peptide hormones. The aim of this scientific study was to determine the genotype and allele frequencies of the rs104893657 variant of the PAX8 gene and to determine the genotype versus phenotype association. METHODS: The study population consisted of 135 women from northeastern Slovakia who were divided on the basis of screening into two groups: a control group without diagnosed hypothyroidism (CG = 67) and a group of women with hypothyroidism (HY = 68). Biochemical markers - thyroid-stimulating hormone (TSH), prealbumin (PREA), calcium (Ca), phosphorus (P), and alkaline phosphatase (ALP) were determined using Cobas Integra 400 plus, Cobas e411 analysers (Roche). Genotyping was performed using TaqMan® SNP Genotyping Assay instrument 7500 Fast Real-Time PCR Systems (Applied Biosystem). RESULTS: Student's t-test revealed a statistically significant difference between CG and HY in biochemical parameters: TSH (p < 0.001), P (p = 0.008). By Chi-square test we found no statistically significant difference in the representation of genotypes (p = 0.788) in the rs104893657 polymorphism of PAX8 gene. The T allele was not associated with hypothyroidism in Slovak women (p = 0.548). In CC genotype we found statistically significant difference between CG and HY in parameters TSH (p < 0.001) and P (p = 0.006). CONCLUSION: The mutant T allele was detected at low frequency in both groups of women studied. The association of the T allele with the development of hypothyroidism in Slovak women was not confirmed. The results of this work provide initial information on the distribution of genotypes and alleles in the studied variant of PAX8 gene in the Slovak female population.

Level of biochemical parameters in patients with type 2 diabetes mellitus depending on the genotype of the FokI polymorphism in the vitamin D3 receptor (VDR gene).

OBJECTIVES: Diabetes mellitus type 2 (T2DM) is a multifactorial and polygenic disorder characterised by chronic hyperglycaemia accompanied by impaired lipid, carbohydrate, and protein metabolism. The disease is associated with several genetic polymorphisms, including the FokI polymorphism in the vitamin D receptor (VDR) gene. METHODS: We conducted a study of 327 probands (191 T2DM patients, 136 controls), with a mean age 65.06 (SD ± 10.88) years of patients with T2DM and 58.89 (SD ± 6.59) years in the healthy probands. We investigated the association between FokI polymorphism and biochemical parameters in T2DM patients in the Slovak population. Anthropometric measurements, biochemical, and genetic analysis were statistically evaluated by Statistica ver.13 software using t-tests. RESULTS: Biochemical analysis confirmed significantly higher mean values of total cholesterol (TC), triglyceride (TG), glucose (GLU), and uric acid (UA) (p < 0.001) in T2DM probands and statistically significantly lower values of high-density lipoprotein (HDL), cholesterol and vitamin D (p < 0.001). Allele frequencies and genotype distributions of the FokI (rs2228570) polymorphism were not significantly different between T2DM patients and controls (p = 0.909). Patients with T2DM and TT genotype had the highest glucose level of 11.39 (SD ± 2.32) uU/ml (p < 0.001). CONCLUSION: Our study did not provide evidence for an association of the investigated FokI polymorphism of the VDR gene with T2DM in the Slovak population. Further research is needed to evaluate the impact of single nucleotide polymorphisms (SNPs) in the VDR gene, focusing on related genetic analyses in a larger T2DM cohort.

Association of the PDE4D gene variant with selected markers in individuals with ischaemic heart disease: a pilot study.

OBJECTIVE: The aim of the study was to evaluate the variant (rs2910829) of the PDE4D gene in relation to its influence on biochemical, anthropometric and physiological parameters in patients with coronary artery disease and healthy subjects of the Eastern Slovak population. METHODS: The male group consisted of 72 individuals and the female group consisted of 132 individuals. On the basis of clinical screening the subjects were divided into two groups - with ischaemic heart disease and control group. Genomic DNA was isolated from peripheral blood using a commercial NucleoSpin® Blood Machenery-Nagel kit. Molecular genetic analysis of the polymorphism under study was performed using the StepOne™ Real-Time PCR System instrument. The lipid profile markers TC, HDL, LDL, TG were measured by Cobas Integra 400 plus biochemical analyser, and systolic and diastolic blood pressure using a digital blood pressure monitor. Among anthropometric parameters, body height and weight, waist and hip circumference were measured and BMI and WHR indices were calculated. RESULTS: A statistically significant (p = 0.018) possible association between the mutant T allele and ischaemic heart disease was found in men. In women, we found a statistically significant difference in the systolic (p = 0.013) and diastolic blood parameters (p = 0.005) in the CC genotype. In the group of women, we found statistically significant differences in all observed anthropometric parameters and in LDL and TC markers. In the group of men divided on the basis of BMI, statistical significance was found in systolic blood pressure (p = 0.028). In the group of women with ischaemic heart disease, we found a negative correlation between BMI and HDL. CONCLUSION: The study contributes to new findings of the representation of genotypes and alleles of the rs2910829 PDE4D gene polymorphism in the Slovak population. This is a pilot study. Interactions between genotype and observed anthropometric, physiological and biochemical markers were confirmed.

Cytogenetic analysis of coke oven workers in Eastern Slovakia.

OBJECTIVE: Our study aimed to evaluate the extent of polycyclic aromatic hydrocarbon (PAH) exposure in coke oven workers from Eastern Slovakia by cytogenetic analysis of human peripheral lymphocytes. METHODS: A total of 81 peripheral blood samples were collected from PAH-exposed workers (mean age 45.84 ± 9.73 years) and 30 samples constituted the control group (41.93 ± 15.39 years). The samples were processed using routine cytological analysis. Conventional cytogenetic analysis of human peripheral lymphocytes has been used to evaluate the effects of PAHs. RESULTS: Comparison of the aberrant cells in the total exposed with the controls showed a significant difference (p < 0.05). A high level of significance (p < 0.001) was observed when comparing the gaps between the exposed group and the control group. There was a significant difference (p < 0.01) in aberrant cells and chromatid breaks (p < 0.05) in the GR1 working subgroup compared with the control group. The results of the correlation analysis did not show a significant relationship between the length of occupational exposure and the frequency of aberrant cells (r = 0.071, p = 0.529). Similarly, no association was observed between smoking among coke plant workers and the frequency of aberrant cells (r = 0.117, p = 0.538). CONCLUSION: Cytogenetic analysis showed an increased frequency of chromosomal aberrations in coke oven workers in Eastern Slovakia.

Finding the candidate sequence variants for diagnosis of hypertrophic cardiomyopathy in East Slovak patients.

BACKGROUND: Hypertrophic cardiomyopathy is a heterogeneous myocardial disease. Mutations appearing in several genes might be a potential cause of the disease. The aim of the study was to analyze selected exons of the sarcomeric and non-sarcomeric genes, with the purpose to identify potential candidate genetic variants and to understand etiopathogenetic mechanisms of hypertrophic cardiomyopathy in East Slovak patients. METHODS: This study recruited 23 unrelated patients with hypertrophic cardiomyopathy, namely, 13 men and 10 women (mean age of 58.09±15.82 years) and 25 healthy controls in order to determine the candidate sequence variants, in the selected exons of six cardiomyopathy genes (MYBPC3, MYH7, NEBL, SCN5A, TNNI3, TNNT2), by conventional capillary-based Sanger sequencing method and standard protocols. RESULTS: Molecular genetic results confirmed the presence of 43 sequence variants in the selected exons of six cardiomyopathy genes, 58.14% of detected variants were novel. The majority of detected sequence variants were confirmed within exon 23 of MYH7 gene. Only 11 genetic alterations were predicted to be potentially pathogenic. CONCLUSIONS: In our study, we identified known and novel sequence variants in 23 unrelated patients with hypertrophic cardiomyopathy, but we did not observe any strong mutation hotspot. The results of our study assumed that exon 23 of MYH7 gene can be in potential affinity to hypertrophic cardiomyopathy in our cohort of patients. The sequence variants identified in this study may be further investigated in order to determine their functions in disease pathogenesis and improve management, diagnosis, and treatment in Slovak patients.

Antioxidant responses in the earthworm Aporrectodea caliginosa of eastern Slovakia: application of principal component analysis as a tool to identify metal contaminated areas.

The soil of Slovak Republic is severely contaminated with heavy metals, creating hazards to soil health. In order to assess the current status with the prospect of selecting the appropriate treatment methods and land use, this investigation aimed to determine a panel of complementary and ecologically relevant biomarkers that reflect adverse biological responses towards terrestrial pollutants. To attain this objective, the concentration of reduced glutathione and enzymes of glutathione antioxidant system were assessed in clitellate earthworm, Aporrectodea caliginosa sampled from selected sites of eastern Slovakia along with the pH and total metal concentration (As, Cd, Pb, Cr, Hg, Mn, Fe, Co, Ni, Cu, Zn) of soils. Positive, significant (p < 0.05) induction of glutathione peroxidase, glutathione reductase, and glutathione-S-transferase activities and depletion of reduced glutathione level (negative correlation) were associated with the increased soil metal concentrations. Metal interference was found in the detoxification process and antioxidant defense mechanism does not efficiently counteract the oxidative stress induced by chronic metal exposure. The tested biomarkers confirmed sensitive and affective response to the pollution of soil contaminants, in this case metals. This has a potential use in ecotoxicological field monitoring. The proposed principal component analysis is a multivariate model of data analysis that represents a cost-effective approach to differentiate metalliferous soils of eastern Slovakia with different health status.

Relationship between A163G osteoprotegerin gene polymorphism and other osteoporosis parameters in Roma and non-Roma postmenopausal women in eastern Slovakia.

BACKGROUND: The study was focused on evaluating the possible correlation between biochemical, anthropometric, and genetic indicators of osteoporosis in postmenopausal women. The frequency of genotypes and differences in measured parameters were evaluated within two ethnically different groups of women in Slovakia. METHODS: The study included 310 postmenopausal women divided into non-Roma and Roma groups. Based on results of densitometry, they were divided into control groups and women with osteoporosis and osteopenia. In all women, a genetic analysis of polymorphism of osteoprotegerin gene promotor region (A163G) was provided along with measurement of indicators of bone tissue metabolism. RESULTS: There is a particularly low incidence of osteoporosis in Roma women. We found a correlation between bone mineral density (BMD), body mass index, and waist and hip circumference in women with osteoporosis and in Roma women with osteopenia. The frequency of the AG genotype was higher in non-Roma women with osteoporosis, but reached only 10.7% in Roma women with osteopenia. While the presence of the G allele in the non-Roma population was accompanied by higher BMD and markers of osteoformation, it was accompanied by significantly higher concentrations of parathyroid hormone in the Roma population. CONCLUSION: The presence of the AG genotype has a different effect on bone metabolism in two ethnically diverse populations of women in Slovakia. In the general population, the presence of the G allele exhibited protective effects consistent with other studies, but in Roma population this appears to be the allele A. However, this requires a further study for confirmation and more detailed characterization of the differences between populations that have this work indicated.

Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy.

OBJECTIVE: Mutations in ion channels genes are potential cause of cardiomyopathy. The SCN5A gene (sodium channel, voltage gated, type V alpha subunit gene; 3p21) belongs to the family of cardiac sodium channel genes. Mutations in SCN5A gene lead to decreased Na+ current and ion unbalance. The SCN5A gene mutations are found in approximately 2% of patients with dilated cardiomyopathy (DCM), and they may be potential phenotype modifiers in hypertrophic cardiomyopathy (HCM). The role of SCN5A gene mutations in cardiomyopathy is not fully elucidated. METHODS: Three selected exons (12, 20, and 21) of the SCN5A gene in the cohort of 58 East Slovak patients with dilated and HCM were analyzed by the Sanger sequencing method in order to detect etiopathogenic mutations associated with dilated and HCM. RESULTS: The mutation screening of three selected exons of SCN5A gene in the cohort of 27 DCM, 12 HCM patients, and 16 controls identified 10 missense genetic variants. Three of them (T1247I, A1260D, and G1262S), all in exon 21 of the SCN5A gene, were potentially damaging and disease-causing variants. CONCLUSION: Data from this study demonstrate that SCN5A gene variants have important role in the etiopathogenesis of dilated and HCM.

Histopathological aspects of liver under variable food restriction: has the intense one-week food restriction a protective effect on non-alcoholic-fatty-liver-disease (NAFLD) development?

Non-alcoholic-fatty-liver-disease (NAFLD) is a clinicopathologic entity characterized by a variety of hepatic injury patterns without significant alcohol use. It has a close association with obesity, so treatment includes weight loss, control of insulin sensitivity, interventions directed at inflammation and fibrosis. There is a certain relationship between the grade and duration of food restriction and hepatic function. The objective of this work was to describe the relationship between biochemistry, autoantibodies, insulin-like growth factor I (IGF-I), insulin-like growth factor binding protein 3 (IGFBP-3), and liver morphology in experimental rabbit groups with food restriction as compared to controls with ad libitum food (ADL) income. The experiment was performed on a total of 24 rabbits of a weaning age of 25-81 days. The first group (R1) was restricted between 32 and 39 days of age to 50 g of food per rabbit a day. The second group (R2) was also restricted between 32 and 39 days, but the rabbits received 65 g of food per rabbit a day. At the end of the experiment, the blood and liver samples were collected at necropsy. NAFLD has developed in all three groups. There was any autoantibody positivity in all three groups. IGF-I is moderately higher in R1 and R2 group, as compared to the control group (P > 0.05). IGFBP-3 is without statistical significance in all three groups. Alkaline phosphatase (ALP) is the only liver biochemical parameter that has significantly increased following food restriction (P > 0.039). Single one-week restriction has any protective effect on NAFLD development.