Frequency of LCT -13910C>T single nucleotide polymorphism associated with adult-type hypolactasia/lactase persistence among Brazilians of different ethnic groups

<p>Abstract</p> <p>Background</p> <p>Adult-type hypolactasia, the physiological decline of lactase some time after weaning, was previously associated with the LCT -13910C>T polymorphism worldwide except in Africa. Lactase non-persistence is the most common phenotype in humans, except in northwestern Europe with its long history of pastoralism and milking. We had previously shown association of LCT -13910C>T polymorphism with adult-type hypolactasia in Brazilians; thus, we assessed its frequency among different Brazilian ethnic groups.</p> <p>Methods</p> <p>We investigated the ethnicity-related frequency of this polymorphism in 567 Brazilians [mean age, 42.1 ± 16.8 years; 157 (27.7%) men]; 399 (70.4%) White, 50 (8.8%) Black, 65 (11.5%) Brown, and 53 (9.3%) Japanese-Brazilian. DNA was extracted from leukocytes; LCT -13910C>T polymorphism was analyzed by PCR-restriction fragment length polymorphism.</p> <p>Results</p> <p>Prevalence of the CC genotype associated with hypolactasia was similar (57%) among White and Brown groups; however, prevalence was higher among Blacks (80%) and those of Japanese descent (100%). Only 2 (4%) Blacks had TT genotype, and 8 (16%) had the CT genotype. Assuming an association between CC genotype and hypolactasia, and CT and TT genotypes with lactase persistence, 356 (62.8%) individuals had hypolactasia and 211 (37.2%) had lactase persistence. The White and Brown groups had the same hypolactasia prevalence (~57%); nevertheless, was 80% among Black individuals and 100% among Japanese-Brazilians (<it>P </it>< 0.01).</p> <p>Conclusion</p> <p>The lactase persistence allele, LCT -13910T, was found in about 43% of both White and Brown and 20% of the Black Brazilians, but was absent among all Japanese Brazilians studied.</p

Sebomic identification of sex- and ethnicity-specific variations in residual skin surface components (RSSC) for bio-monitoring or forensic applications

Background: “Residual skin surface components” (RSSC) is the collective term used for the superficial layer of sebum, residue of sweat, small quantities of intercellular lipids and components of natural moisturising factor present on the skin surface. Potential applications of RSSC include use as a sampling matrix for identifying biomarkers of disease, environmental exposure monitoring, and forensics (retrospective identification of exposure to toxic chemicals). However, it is essential to first define the composition of “normal” RSSC. Therefore, the aim of the current study was to characterise RSSC to determine commonalities and differences in RSSC composition in relation to sex and ethnicity. Methods: Samples of RSSC were acquired from volunteers using a previously validated method and analysed by high-pressure liquid chromatography–atmospheric pressure chemical ionisation–mass spectrometry (HPLC-APCI-MS). The resulting data underwent sebomic analysis. Results: The composition and abundance of RSSC components varied according to sex and ethnicity. The normalised abundance of free fatty acids, wax esters, diglycerides and triglycerides was significantly higher in males than females. Ethnicity-specific differences were observed in free fatty acids and a diglyceride. Conclusions: The HPLC-APCI-MS method developed in this study was successfully used to analyse the normal composition of RSSC. Compositional differences in the RSSC can be attributed to sex and ethnicity and may reflect underlying factors such as diet, hormonal levels and enzyme expression.Peer reviewedFinal Published versio

Estudo de validade da escala de sobrecarga de familiares cuidadores de pacientes psiquiátricos Burden of care in relatives of psychiatric patients: validity study of the Family Burden Interview Scale

A sobrecarga de familiares cuidadores de pacientes psiquiátricos tem sido amplamente estudada por pesquisas internacionais, usando escalas validadas, mas raramente no Brasil, talvez devido à carência de escalas validadas deste construto. OBJETIVO: Esta pesquisa avaliou a validade da versão brasileira da escala Family Burden Interview Schedule (FBIS-BR). MÉTODO: Participaram cem familiares de pacientes psiquiátricos de três instituições psiquiátricas de Minas Gerais, entrevistados com aplicação de um questionário sociodemográfico e três escalas de medida: FBIS-BR, BI e SRQ-20. RESULTADOS: A validade de critério da escala FBIS-BR foi analisada pela sua correlação com a escala BI, já validada para o Brasil e que avalia o mesmo construto, obtendo-se correlações significativas, entre 0,23 e 0,69 (p < 0,01). A validade de construto da escala FBIS-BR foi analisada pela sua correlação com a SRQ-20, que avalia um construto diferente, de transtornos psicológicos, porém teoricamente relacionado ao de sobrecarga, tendo-se obtido correlações significativas (p < 0,01) entre 0,31 e 0,49. CONCLUSÃO: A escala FBIS-BR constitui um instrumento de medida válido para avaliar a sobrecarga dos familiares cuidadores de pacientes psiquiátricos, podendo ser utilizada em serviços de saúde mental para identificar as dificuldades e as necessidades destes familiares e para direcionar novas intervenções de orientação e suporte.<br>Family caregivers burden has been frequently reported in international researches using validated scales, but rarely in Brazil, perhaps due to the restrict availability of burden scales. OBJECTIVE: The present study examined the validity of the Brazilian version of the Family Burden Interview Schedule (FBIS-BR). METHOD: A sample of 100 family caregivers of psychiatric patients attending three public outpatient services were interviewed with the application of three scales: FBIS-BR, BI and SRQ-20. Socio-demographic data were collected with a standardized form. RESULTS: Criterion validity of the FBIS-BR scale was investigated analyzing its correlation with the BI scale, which evaluates the same construct of family burden and the significant scores obtained varied between 0.23 e 0.69 (p<0.01). The construct validity of the FBIS-BR scale was evaluated analyzing its correlation with the SRQ-20 scale, which evaluates a different but related construct of psychological disturbance, and the significant scores obtained varied between 0.31 e 0.49. CONCLUSION: The FBIS-BR scale has good criterion and construct validity indicators to evaluate family burden of caregivers of psychiatric patients. This scale therefore can be used in mental health services, to evaluate the difficulties and needs presented by the family and to elaborated new support and orientation interventions