Renal hypouricemia (RHUC) is caused by an inherited defect in the main reabsorption system of uric acid, SLC22A12 (URAT1) and SLC2A9 (GLUT9). RHUC is characterized by a decreased serum uric acid concentration and an increase in its excreted fraction. Patients suffer from hypouricemia, hyperuricosuria, urolithiasis, and even acute kidney injury. We report clinical, biochemical, and genetic findings in a cohort recruited from the Košice region of Slovakia consisting of 27 subjects with hypouricemia and relatives from 11 families, 10 of whom were of Roma ethnicity. We amplified, directly sequenced, and analyzed all coding regions and exon-intron boundaries of the SLC22A12 and SLC2A9 genes. Sequence analysis identified dysfunctional variants c.1245_1253del and c.1400C>T in the SLC22A12 gene, but no other causal allelic variants were found. One heterozygote and one homozygote for c.1245_1253del, nine heterozygotes and one homozygote for c.1400C>T, and two compound heterozygotes for c.1400C>T and c.1245_1253del were found in a total of 14 subjects. Our result confirms the prevalence of dysfunctional URAT1 variants in Roma subjects based on analyses in Slovak, Czech, and Spanish cohorts, and for the first time in a Macedonian Roma cohort. Although RHUC1 is a rare inherited disease, the frequency of URAT1-associated variants indicates that this disease is underdiagnosed. Our findings illustrate that there are common dysfunctional URAT1 allelic variants in the general Roma population that should be routinely considered in clinical practice as part of the diagnosis of Roma patients with hypouricemia and hyperuricosuria exhibiting clinical signs such as urolithiasis, nephrolithiasis, and acute kidney injury.

• Klíčová slova
• Roma, SLC22A12, URAT1, ethnic specificity, renal hypouricemia,
• Publikační typ
• časopisecké články MeSH

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 marikľa 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.

• Klíčová slova
• 18th century, 21st century, Roma, Slovakia, comparison, eating habits, housing,
• MeSH
• bydlení dějiny   MeSH
• dějiny 18. století MeSH
• dějiny 21. století MeSH
• dospělí MeSH
• hygiena dějiny   MeSH
• lidé středního věku MeSH
• lidé MeSH
• Romové dějiny   MeSH
• senioři MeSH
• sociální segregace dějiny   MeSH
• společenská třída MeSH
• stravovací zvyklosti etnologie   MeSH
• Check Tag
• dějiny 18. století MeSH
• dějiny 21. století MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• historické články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Slovenská republika etnologie   MeSH

BACKGROUND: Research into social root-causes of poor health within segregated Roma communities in Central and Eastern Europe, i.e. research into how, why and by whom high health-endangering settings and exposures are maintained here, is lacking. The aim of this study was to assess the local setup of health-endangering everyday settings and practices over the long-term in one such community. It is the initial part of a larger longitudinal study qualitatively exploring the social root-causes of poor Roma health status through the case of a particular settlement in Slovakia. METHODS: The study, spanning 10 years, comprised four methodologically distinct phases combining ethnography and applied medical-anthropological surveying. The acquired data consisted of field notes on participant observations and records of elicitations focusing on both the setup and the social root-causes of local everyday health-endangering settings and practices. To create the here-presented descriptive summary of the local setup, we performed a qualitative content analysis based on the latest World Health Organization classification of health exposures. RESULTS: Across all the examined dimensions - material circumstances, psychosocial factors, health-related behaviours, social cohesion and healthcare utilization - all the settlements' residents faced a wide range of health-endangering settings and practices. How the residents engaged in some of these exposures and how these exposures affected residents' health varied according to local social stratifications. Most of the patterns described prevailed over the 10-year period. Some local health-endangering settings and practices were praised by most inhabitants using racialized ethnic terms constructed in contrast or in direct opposition to alleged non-Roma norms and ways. CONCLUSIONS: Our summary provides a comprehensive and conveniently structured basis for grounded thinking about the intermediary social determinants of health within segregated Roma communities in Slovakia and beyond. It offers novel clues regarding how certain determinants might vary therein; how they might be contributing to health-deterioration; and how they might be causally inter-linked here. It also suggests racialized ethnically framed social counter-norms might be involved in the maintenance of analogous exposure setups.

• Klíčová slova
• Ethnography, Health inequality, Public health, Roma health, Slovakia, Social determinants of health,
• MeSH
• charakteristiky bydlení MeSH
• lidé MeSH
• longitudinální studie MeSH
• průřezové studie MeSH
• Romové statistika a číselné údaje   MeSH
• sociální segregace MeSH
• společenská třída MeSH
• venkovské obyvatelstvo statistika a číselné údaje   MeSH
• zdravé chování etnologie   MeSH
• zdravotní stav * MeSH
• životní styl MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Slovenská republika MeSH