CER 1 gene polymorphism in postmenopausal Roma and non-Roma Slovak women in connection with osteoporosis.

OBJECTIVE: The aim of our study was to investigate the relationship between the rs74434454 polymorphism of the CER1 gene and selected biochemical, densitometric and anthropometric markers in Slovak postmenopausal women of two ethnic groups: Roma and non-Roma. SUBJECTS AND METHODS: The scientific study included 303 postmenopausal women of the non-Roma and Roma populations who were divided into two groups based on densitometric measurements: control group (CG) and osteoporotic group (OG). Genomic DNA was isolated from peripheral blood using a commercial NucleoSpin® Blood kit following a standard protocol. The TaqMan Real-Time PCR method was used for genotyping. Biochemical markers were measured with Cobas e411 and Cobas Integra400 plus analysers. RESULTS: In the control group of postmenopausal Roma women, the occurrence of the risk genotype GG was not observed. In the group of Roma women with osteopenia and osteoporosis, the GG genotype occurred at a frequency of 3.03%. In the group of non-Roma women (between CG and OG) statistically significant differences were found in all monitored biochemical markers except CTx-I (p<0.66). In contrast, in the group of Roma women, statistical significance was only found in the osteoresorption marker CTx-I (p<0.007). In the population of Roma women, we did not find a statistically significant difference between the AA, AG and GG genotypes in any of the monitored markers. CONCLUSIONS: The results provide the first and unique insight on the distribution of genotypes and alleles of the rs74434454 CER1 gene polymorphism and its relationship to markers of bone metabolism in two ethnically distinct groups.

Behavioural challenges of minorities: Social identity and role models.

We present a lab-in-the-field experiment and surveys of marginalised Roma children in Slovakia to examine whether reminding Roma of their ethnicity reduces their performance in a cognitive task. Research on social identity and stereotypes has documented that when individuals feel that their social group is negatively stereotyped in a domain, their performance declines, which can reinforce discrimination. In an effort to break the cycle of negative stereotypes, we remind Roma subjects of either Roma or non-Roma role models. We find that the activation of a Roma's ethnicity reduces cognitive performance. In contrast, Roma exposed to Roma role models outperform those reminded of their ethnicity and of non-Roma role models. We then attempt to understand the channels through which social identity and role models affect performance. We show that priming the identity of a Roma has a direct effect on confidence, decreasing performance.

Perceptions of Caring Between Slovene and Russian Members of Nursing Teams.

PURPOSE: To measure the perceptions of caring between Slovene and Russian members of nursing teams and compare the results with earlier findings in other European Union countries. METHOD: A cross-sectional study that included nurses and nursing assistants in Slovenia ( n = 294) and Russia ( n = 531). Data were collected using the 25-item Caring Dimensions Inventory. RESULTS: The most endorsed item for Slovene and Russian members of nursing teams was an item related to medication administration. All items that were endorsed by Russian participants were also endorsed by Slovenian participants; however, they ascribed a different level of importance to individual aspects of caring. DISCUSSION: Compared with other European Union countries, such as the United Kingdom and Spain, Slovenian and Russian members of nursing teams endorsed more technical aspects of nursing duties as caring, suggesting cultural differences and previous influences of the biomedical model on nursing education and practice.

An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.

BACKGROUND: Short-chain acyl-CoA dehydrogenase deficiency (SCADD) represents a rare autosomal recessive inborn metabolic disorder of mitochondrial ß-oxidation of monocarboxylic acids. Clinical symptoms can vary from a severe life-threatening condition to an asymptomatic state, reported in the majority of cases. Since the expansion of newborn screenings, more than three hundred probands were admitted for molecular-genetic analysis, most selected because of elevated values of C4-acylcarnitine detected in newborn screenings in Slovakia. Searching for the principal genomic changes led us to the selection of sixty-two patients in whom the presence of sequence variants in the ACADS gene was analysed and correlated with the available biochemical and clinical data. METHODS: Biochemical and molecular genetic tests were performed. Acylcarnitine profiles focused on an elevated level of C4-acylcarnitine, which was analysed via tandem mass spectrometry. Urinary organic acids, specifically a quantity of ethylmalonic acid, were determined by gas chromatography/mass spectrometry. The entire coding region of the ACADS gene was sequenced. A low-cost restriction fragment length polymorphism of PCR amplified fragments analysis (PCR-RFLP) of pathogenic variants was introduced and implemented for the molecular-genetic algorithm appropriate for the Slovak population. RESULTS: Our molecular genetic study was performed on sixty-two patients with a pathological biochemical pattern related to short-chain acyl-CoA dehydrogenase deficiency. In this cohort, we discovered a high occurrence of two rare pathogenic variants-the deletion c.310_312delGAG and the substitution c.1138C>T, with allelic frequencies of 64% and 31%, respectively. Up to 86% of investigated individuals belong to the Roma ethnic group. CONCLUSIONS: Analogous to other countries, SCADD is not included in the newborn screening programme. Based on the exceeded levels of the specific biomarker C4-acylcarnitine as well as ethylmalonic acid, we revealed a high prevalence of short-chain acyl-CoA dehydrogenase deficiency cases, confirmed by the findings of two rare pathogenic variants. A deletion c.310_312delGAG and c.1138C > T substitution in the ACADS gene appear with a high frequency in the Roma ethnic group of Slovakia. Due to the uncertainty of the pathogenicity and clinical consequences, it is important to follow up the morbidity and mortality in these patients over time and evaluate SCADD in relation to clinical outcomes and preventive healthcare recommendations.

Roma Housing and Eating in 1775 and 2013: A Comparison.

We compared housing and the eating habits of Roma. Contemporary findings (2013) were compared with those from the first monothematic work on Roma (1775), which depicts their housing and eating habits, especially regarding the differences between social classes. Data were obtained from a journal (1775) and from semi-structured interviews (2013) with more than 70 Roma women and men who live in segregated and excluded settlements at the edges of villages or scattered among the majority. Data were collected in two villages and one district town in the Tatra region, where the data from the 1775 measurements originated. We used classical sociological theory to interpret the obtained data. The main findings showed differences between specific social classes then and now regarding housing, as well as the eating habits related to both conditions among the Roma in the Tatra region. The houses of rich Roma families did not differ from the houses of the majority population. The huts of the poorest inhabitants of settlements did not meet any hygiene standards. Typical Roma foods such as gója or marikla were the traditional foods of Slovak peasants living in poverty in the country. We concluded that the housing and eating habits of the citizens of poor settlements located in the eastern parts of Slovakia are still similar to those of two centuries ago. The existing social exclusion may be explained partly from this finding.

Rituals Improve Children's Ability to Delay Gratification.

To be accepted into social groups, individuals must internalize and reproduce appropriate group conventions, such as rituals. The copying of such rigid and socially stipulated behavioral sequences places heavy demands on executive function. Given previous research showing that challenging executive functioning improves it, it was hypothesized that engagement in ritualistic behaviors improves children's executive functioning, in turn improving their ability to delay gratification. A 3-month circle time games intervention with 210 schoolchildren (Mage  = 7.78 years, SD = 1.47) in two contrasting cultural environments (Slovakia and Vanuatu) was conducted. The intervention improved children's executive function and in turn their ability to delay gratification. Moreover, these effects were amplified when the intervention task was imbued with ritual, rather than instrumental, cues.

Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents.

BACKGROUND: Inactivating mutations of the hypothalamic transcription factor singleminded1 (SIM1) have been shown as a cause of early-onset severe obesity. However, to date, the contribution of SIM1 mutations to the obesity phenotype has only been studied in a few populations. In this study, we screened the functional regions of SIM1 in severely obese children of Slovak and Moravian descent to determine if genetic variants within SIM1 may influence the development of obesity in these populations. METHODS: The SIM1 promoter region, exons and exon-intron boundaries were sequenced in 126 unrelated obese children and adolescents (2-18 years of age) and 41 adult lean controls of Slovak and Moravian origin. Inclusion criteria for the children and adolescents were a body mass index standard deviation score higher than 2 SD for an appropriate age and sex, and obesity onset at less than 5 years of age. The clinical phenotypes of the SIM1 variant carriers were compared with clinical phenotypes of 4 MC4R variant carriers and with 27 unrelated SIM1 and MC4R mutation negative obese controls that were matched for age and gender. RESULTS: Seven previously described SIM1 variants and one novel heterozygous variant p.D134N were identified. The novel variant was predicted to be pathogenic by 7 in silico software analyses and is located at a highly conserved position of the SIM1 protein. The p.D134N variant was found in an 18 year old female proband (BMI 44.2kg/m2; +7.5 SD), and in 3 obese family members. Regardless of early onset severe obesity, the proband and her brother (age 16 years) did not fulfill the criteria of metabolic syndrome. Moreover, the variant carriers had significantly lower preferences for high sugar (p = 0.02) and low fat, low carbohydrate, high protein (p = 0.02) foods compared to the obese controls. CONCLUSIONS: We have identified a novel SIM1 variant, p.D134N, in 4 obese individuals from a single pedigree which is also associated with lower preference for certain foods.

Needles, Jabs and Jags: a qualitative exploration of barriers and facilitators to child and adult immunisation uptake among Gypsies, Travellers and Roma.

BACKGROUND: Gypsies, Travellers and Roma (referred to as Travellers) are less likely to access health services including immunisation. To improve immunisation rates, it is necessary to understand what helps and hinders individuals in these communities in taking up immunisations. This study had two aims. 1. Investigate the views of Travellers in the UK on the barriers and facilitators to acceptability and uptake of immunisations and explore their ideas for improving immunisation uptake; 2. Examine whether and how these responses vary across and within communities, and for different vaccines (childhood and adult). METHODS: This was a qualitative, cross-sectional interview study informed by the Social Ecological Model. Semi-structured interviews were conducted with 174 Travellers from six communities: Romanian Roma, English Gypsy/Irish Travellers (Bristol), English Gypsy (York), Romanian/Slovakian Roma, Scottish Show people (Glasgow) and Irish Traveller (London). The focus was childhood and selected adult vaccines. Data were analysed using the Framework approach. RESULTS: Common accounts of barriers and facilitators were identified across all six Traveller communities, similar to those documented for the general population. All Roma communities experienced additional barriers of language and being in a new country. Men and women described similar barriers and facilitators although women spoke more of discrimination and low literacy. There was broad acceptance of childhood and adult immunisation across and within communities, with current parents perceived as more positive than their elders. A minority of English-speaking Travellers worried about multiple/combined childhood vaccines, adult flu and whooping cough and described barriers to booking and attending immunisation. Cultural concerns about antenatal vaccines and HPV vaccination were most evident in the Bristol English Gypsy/Irish Traveller community. Language, literacy, discrimination, poor school attendance, poverty and housing were identified as barriers across different communities. Trustful relationships with health professionals were important and continuity of care valued. CONCLUSIONS: The experience of many Travellers in this study, and the context through which they make health decisions, is changing. This large study identified key issues that should be considered when taking action to improve uptake of immunisations in Traveller families and reduce the persistent inequalities in coverage. TRIAL REGISTRATION: Current Controlled Trials ISRCTN20019630 .

The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation.

Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, macrocephaly and learning disability. Mutation analysis provides an important tool in order to distinguish two entities that have different clinical implications. We analyzed SPRED1 gene by cDNA and/or gDNA sequencing in a cohort of 46 Slovak patients in whom previously NF1 mutation was excluded. In one case we identified a nonsense mutation c.46C>T (p.Arg16*) in exon 2 of SPRED1 gene, confirming diagnosis of Legius syndrome. This mutation was reported previously.

Spousal concordance in the use of alternative tobacco products: A multi-country investigation.

BACKGROUND: Married couples often share similar health-related characteristics and behaviors, including cigarette smoking status. Despite their rising popularity in the U.S., little research has examined the patterns of spousal concordance (SC) for alternative tobacco products (ATPs), such as e-cigarettes, cigars, and hookah. METHODS: The purpose of this project was to examine the roles of age, gender, and culture in the strength of SC for these ATPs. Analyses focused on a diverse community sample of married individuals in Ohio, U.S. (N=278), but also examined patterns in Austria, Greece, Israel, the Netherlands, and Slovakia. All participants completed a survey in which they indicated both their own, and their spouse's ever-use of various tobacco products. RESULTS: For the U.S. sample, SC was highest for e-cigarettes, flavored e-cigarettes, flavored cigarettes, and hookah (ϕs=0.48- 0.61); SC appeared to be stronger among younger couples, and when there was only a small female vs. male differences in use. Similar patterns were found in the other countries, with a few key exceptions. In particular, there was low SC for e-cigarettes and flavored e-cigarettes in the other countries, where e-cigarettes had been federally regulated by the time of data collection. CONCLUSION: Overall, these findings have implications for the continued spreading popularity of these tobacco use behaviors.

Maternal relationship analysis of skeletal remains from Early Medieval cemetery in Slovakia.

SUMMARY: MtDNA from the skeletal remains of two bodies buried in the grave No. F44 from Nitra-Sindolka (woman and child) was analysed. Cemeteries in Sindolka belong to the Bijelo Brdo culture, where Slavs and Magyars were buried in the 10th - 11th centuries. Surprisingly, the analysis of mtDNA has shown no maternal relationship between buried persons, since the woman belongs to haplogroup T1a and the child to haplogroup J. Since both haplogroups can be found in Near Eastern and European populations at similar frequencies, the tested samples from the tomb No. F44 cannot be clearly assigned to ethnic origin.

Mid and later life care work migration: Patterns of re-organising informal care obligations in Central and Eastern Europe.

BACKGROUND: Many women in mid or later life from Central and Eastern Europe commute for live-in 24-hour care work to Austria. In addition to paid care work abroad, the majority of women in this age group is confronted with informal (family) care obligations towards children, towards older relatives or towards grandchildren. OBJECTIVE: This study aims to explore the patterns of re-organising these informal care obligations (childcare, long-term care and domestic work) in the respective home country and to analyse the factors that determine the re-organisation. METHODS: The study builds on qualitative interviews with 20 migrant care workers aged 40years and over, 9 Romanian and 11 Slovakian women providing 24-hour care work in Austria. RESULTS: All interviewees commute in 2- to 4-weekly shifts between the home country and Austria and report multiple informal care obligations towards family members in the respective home country. In most cases, members of the nuclear and extended family, and in many cases husbands or partners of migrant care workers, act as the main substitute caregivers. Institutional care provision plays a more important role for child care as against for older people in need of care for whom care services are hardly available or accessible in the countries observed. DISCUSSION: While re-organisation depends much on the specific family constellations, strong assumptions towards family care, the limitations in (monetary) resources and the lack of public welfare provisions strongly co-determine the arrangements.

The mediating effect of discrimination, social support and hopelessness on self-rated health of Roma adolescents in Slovakia.

BACKGROUND: According to the EU-MIDIS report on discrimination, Roma are the most discriminated against group in Europe. Research suggests that experiencing discrimination may itself be detrimental to health. The aim of this paper is to investigate whether discrimination, hopelessness and social support mediate differences in self-rated health (SRH) between Roma and non-Roma adolescents. METHODS: We conducted a cross-sectional study among Roma from separated and segregated settlements in the eastern part of Slovakia (N = 330; mean age = 14.50; interview) and non-Roma adolescents (N = 722; mean age = 14.86; questionnaire); only non-missing data were used for analyses (n = 759). The effect of perceived discrimination, mother and father social support, and hopelessness on SRH was analysed as crude and adjusted for ethnicity, age, gender, parental education and social desirability. Mediating effects were separately assessed using the Sobel test and structural equation modelling. RESULTS: Roma adolescents reported poorer SRH and more discrimination, mother and father social support, hopelessness and social desirability. Roma ethnicity (Odds ratio/95 %-Confidence interval 3.27/2.40-4.47), discrimination (2.66/1.82-3.88), hopelessness (1.35/1.20-1.51) and mother (0.92/0.88-0.97) and father social support (0.96/0.93 - 0.997) were statistically significant predictors of poor SRH. Perceived discrimination, social support and hopelessness mediated the ethnicity-health association, with adjustment for social support increasing its strength and the other two variables decreasing it. CONCLUSIONS: Perceived discrimination, social support and hopelessness mediate a part of the association between Roma ethnicity and poor SRH, with discrimination and hopelessness being risk factors and social support a protective factor.

Inequalities in mortality by socioeconomic factors and Roma ethnicity in the two biggest cities in Slovakia: a multilevel analysis.

BACKGROUND: The socioeconomic and ethnic composition of urban neighbourhoods may affect mortality, but evidence on Central European cities is lacking. The aim of this study was to assess the associations between socioeconomic and ethnic neighbourhood indicators and the mortality of individuals aged 20-64 years old in the two biggest cities of the Slovak Republic. METHODS: We obtained data on the characteristics of neighbourhoods and districts (educational level, unemployment, income and share of Roma) and on individual mortality of residents aged 20-64 years old, for the two largest cities in the Slovak Republic (Bratislava and Kosice) in the period 2003-2005. We performed multilevel Poisson regression analyses adjusted for age and gender on the individual (mortality), neighbourhood (education level and share of Roma in population) and district levels (unemployment and income). RESULTS: The proportions of Roma and of low-educated residents were associated with mortality at the neighbourhood level in both cities. Mutually adjusted, only the association with the proportion of Roma remained in the model (risk ratio 1.02; 95 % confidence interval 1.01-1.04). The area indicators - high education, income and unemployment - were not associated with mortality. CONCLUSION: The proportion of Roma is associated with early mortality in the two biggest cities in the Slovak Republic.

MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.

BACKGROUND: In the present study we aimed: 1) To establish the prevalence and clinical impact of DFNB49 mutations in deaf Roma from 2 Central European countries (Slovakia and Hungary), and 2) to analyze a possible common origin of the c.1331+2T>C mutation among Roma and Pakistani mutation carriers identified in the present and previous studies. METHODS: We sequenced 6 exons of the MARVELD2 gene in a group of 143 unrelated hearing impaired Slovak Roma patients. Simultaneously, we used RFLP to detect the c.1331+2T>C mutation in 85 Hungarian deaf Roma patients, control groups of 702 normal hearing Romanies from both countries and 375 hearing impaired Slovak Caucasians. We analyzed the haplotype using 21 SNPs spanning a 5.34Mb around the mutation c.1331+2T>C. RESULTS: One pathogenic mutation (c.1331+2T>C) was identified in 12 homozygous hearing impaired Roma patients. Allele frequency of this mutation was higher in Hungarian (10%) than in Slovak (3.85%) Roma patients. The identified common haplotype in Roma patients was defined by 18 SNP markers (3.89 Mb). Fourteen common SNPs were also shared among Pakistani and Roma homozygotes. Biallelic mutation carriers suffered from prelingual bilateral moderate to profound sensorineural hearing loss. CONCLUSIONS: We demonstrate different frequencies of the c.1331+2T>C mutation in hearing impaired Romanies from 3 Central European countries. In addition, our results provide support for the hypothesis of a possible common ancestor of the Slovak, Hungarian and Czech Roma as well as Pakistani deaf patients. Testing for the c.1331+2T>C mutation may be recommended in GJB2 negative Roma cases with early-onset sensorineural hearing loss.

The effect of neighbourhood unemployment on health-risk behaviours in elderly differs between Slovak and Dutch cities.

BACKGROUND: Health-risk behaviours (HRB) increase the risk of disability and chronic diseases at an older age. This study aimed to compare Slovakia and the Netherlands regarding differences in the prevalence of HRB by neighbourhood and individual deprivation and to determine whether area differences could be explained by the socio-economic position (SEP) of the residents. METHODS: We obtained data on non-institutionalized residents aged ≥ 65 years from the EU-FP7: EURO-URHIS 2 project from Slovak (N = 665, response rate 44.0%) and Dutch cities (N = 795, response rate 50.2%). HRB concerned daily smoking, binge drinking, physical activity, consumption of fruits and vegetables and body mass index. Area deprivation was measured by the neighbourhood unemployment rate. Individual SEP was measured by education and household income with financial strain. We used multilevel logistic regression. RESULTS: In Slovakia, no HRB was associated with either neighbourhood unemployment or individual SEP. The elderly in the Netherlands from the least favourable neighbourhoods were more likely to be daily smokers [odds ratio (OR) 2.32; 95% confidence interval (CI) 1.25, 4.30] and overweight (OR 1.84; 95% CI 1.24, 2.75) than residents from the most favourable ones. For the Dutch elderly the gradients varied per HRB and per individual-level SEP indicator. Individual SEP explained country differences in the association of area unemployment with smoking and lack of physical activity but not that with overweight. CONCLUSION: Countries differed in the associations with HRB of both neighbourhood unemployment and individual SEP among the elderly urban residents. The local importance of socio-economic factors on both levels should be considered when developing health-promotion activities for the elderly.

Job satisfaction of Slovenian hospital nursing workforce.

AIM: To test the psychometric properties of the McCloskey-Mueller Satisfaction Scale and to assess which of the McCloskey-Mueller Satisfaction Scale dimensionalities have a considerable impact on job satisfaction of nursing employees in three public Slovenian hospitals. BACKGROUND: Job satisfaction of nurses is linked to productivity, turnover, absenteeism and patient outcomes. Little is known about the factors contributing to job satisfaction among Slovenian hospital nurses. Understanding the contributing factors could help nurse managers to take appropriate measures. METHOD: A cross-sectional survey study was used to obtain a sample of 169 registered nursing assistants and 74 registered nurses working in three public hospitals in Slovenia, from which data was obtained using the McCloskey-Mueller Satisfaction Scale. Dimensionality was tested using exploratory factor analysis. RESULTS: A seven-factor structure of 29 items was obtained, which accounted for 54.3% of the total variance in job satisfaction, and was internally consistent (Cronbach's alpha coefficient of the instrument was 0.78). The first factor 'Satisfaction with Interaction Opportunities', which is a component of the social rewards dimension in the McCloskey-Mueller Satisfaction Scale, explained 30.6% of the variation. CONCLUSION: The registered nursing assistants' job dissatisfaction was higher than that of the registered nurses. Both were mostly dissatisfied with professional opportunities. Using the factor analysis, a seven-factor structure was found instead of the originally introduced eight-factor model, which suggests a need for further redevelopment of the McCloskey-Mueller Satisfaction Scale. IMPLICATIONS FOR NURSING MANAGEMENT: The results suggest that operational management needs to revitalize the work environment by ensuring proactive leadership and allowing participation in the decision-making process, while health-care organisations need to support the professional development of registered nursing assistants and registered nurses in order to achieve sustainable effects in job satisfaction.

Occurrence of microsporidia as emerging pathogens in Slovak Roma children and their impact on public health.

INTRODUCTION AND OBJECTIVE: Microsporidia are identified as ubiquitous organisms of almost every animal group and are now recognized as emerging opportunistic pathogens of human. The risk factors include immunodeficiency, lack of sanitation, and exposure to contaminated water and infected animals. In Slovakia, the places with an increased risk of infection due to the presence of risk factors and routes of transmission are represented by Roma settlements. Therefore, the aim of this work was to study the occurrence of Encephalitozoon spp. and E. bieneusi in children living in Roma settlements. MATERIALS AND METHODS: Stool samples were examined of 72 clinically healthy children coming from a group of the non-integrated Roma minority for the presence of microsporidia Encephalitozoon spp. and E. bieneusi. Microsporidian spores were detected by standard Rylux D, staining and by PCR and DNA sequencing. RESULTS: Of the total number of 72 stool smears examined, 22 were positive, which represented 30.6%. By the Real Time PCR, E. bieneusi was detected in 3 samples (4.2 %) and E. cuniculi in 19 samples (26.4 %). By comparing the sequences with sequences in the GenBank, E. cuniculi genotype I (Accession No. AJ005581.1) and E. bieneusi genotype A (Accession No. AF101197.1). CONCLUSIONS: Microsporidia, as newly emerging pathogens of humans and animals, are characterised by the production of spores which are environmentally resistant. Diseases caused by them have a cosmopolitan occurrence. Although E. bieneusi and E. cuniculi belong to the most frequently diagnosed species of microsporidia in humans, in Slovakia, this is the first confirmed evidence of E. bieneusi genotype A, as well as E. cuniculi genotype I in humans by the molecular method.

The frequency of factor V Leiden and prothrombin G20210A mutations in Slovak and Roma (Gypsy) ethnic group of Eastern Slovakia.

Factor V Leiden and prothrombin G20210A are the two most prevalent causes of inherited thrombophilia. The prevalence of these mutations varies widely in healthy Caucasian population. The aim of our study was to determine the frequency of factor V Leiden and prothrombin G20210A mutations in Slovak and Roma ethnic group from Eastern Slovakia. We analyzed 540 asymptomatic individuals (269 individuals of Slovak ethnicity and 271 individuals of Roma ethnicity) by real-time PCR method. The detected allele frequencies were 2.97 versus 6.64 % for factor V Leiden (p = 0.0049), and 0.74 versus 0.92 % for prothrombin mutation (p = 0.7463) in Slovak and Roma population, respectively. The Roma ethnic group had significantly higher prevalence of factor V Leiden mutation when compared to Slovak ethnic group. The allele frequency of factor V Leiden in ethnic Romanies from Eastern Slovakia was one of the highest in Europe. Our results confirm an uneven geographical and ethnic distribution of factor V Leiden.

Familiar ochronotic arthropathy-caused by a gene mutation traced three hundred years.

Authors trace an ochronotic Hungarian family, which moved from Slovakia to Hungary 300 years ago. As the family members lived in a relatively close village community the gene mutation had been survived silently for ages before the clinical symptoms developed. Family tree analysis could detect with the use of allele specific PCR amplification-the p.G161R mutation of the homogentisic acid 1,2-dioxygenase (HGD) gene, which resulted in a specific genotype appearing in the Slovak population. We found a heterozygote member of this family who has children with an alkaptonuria-homozygote and known-heterozygote genotypes so there would be a high risk of alkaptonuria in their offsprings. Therefore genetic counselling is highly recommended to minimize the risk factors.