The prevalence of metabolic disorders varies among ethnic populations and these disorders represent a critical health care issue for elderly women. This study investigated the correlation between genetic ancestry and body composition, metabolic traits and clinical status in a sample of elderly women. Clinical, nutritional and anthropometric data were collected from 176 volunteers. Genetic ancestry was estimated using 23 ancestry-informative markers. Pearsons correlation test was used to examine the relationship between continuous variables and an independent samples t-test was used to compare the means of continuous traits within categorical variables. Overall ancestry was a combination of European (57.49%), Native American (25.78%) and African (16.73%). Significant correlations were found for European ancestry with body mass index (r = 0.165; p = 0.037) and obesity (mean difference (MD) = 5.3%; p = 0.042). African ancestry showed a significant correlation with LDL (r = 0.159, p = 0.035), VLDL (r = -0.185; p = 0.014), hypertriglyceridemia (MD = 6.4%; p = 0.003) and hyperlipidemia (MD = 4.8%; p = 0.026). Amerindian ancestry showed a significant correlation with triglyceride levels (r = 0.150; p = 0.047) and hypertriglyceridemia (MD = 4.5%; p = 0.039). These findings suggest that genetic admixture may influence the etiology of lipid metabolism-related diseases and obesity in elderly women.

The CTLA-4 protein is expressed in activated T cells and plays an essential role in the immune response through its regulatory effect on T cell activation. Polymorphisms of the CTLA-4 gene have been correlated with autoimmune, neoplastic and infectious illnesses. This work aimed to verify possible associations between single nucleotide polymorphisms (SNPs) in CTLA-4, -318C/T in the promoter and +49A/G in exon 1 and paracoccidioidomycosis (PCM) caused by Paracoccidioides brasiliensis. For this purpose, 66 chronic form PCM patients and 76 healthy controls had their allele, genotype and haplotype frequencies determined. The genetic admixture structure of the patients and controls was evaluated to eliminate ancestral bias. The comparison of frequencies indicated no significant differences between patients and controls that could link the SNPs to PCM. Groups were admixture matched with no difference observed in population ancestry inference, indicating that the absence of association between CTLA-4 polymorphisms and PCM could not be attributed to ancestral bias. This study showed that there was no association between the CTLA-4 SNPs -318 and +49 and the resistance or susceptibility to PCM.

The vitamin D receptor (VDR) is an essential protein related to bone metabolism. Some VDR alleles are differentially distributed among ethnic populations and display variable patterns of linkage disequilibrium (LD). In this study, 200 unrelated Brazilians were genotyped using 21 VDR single nucleotide polymorphisms (SNPs) and 28 ancestry informative markers. The patterns of LD and haplotype distribution were compared among Brazilian and the HapMap populations of African (YRI), European (CEU) and Asian (JPT+CHB) origins. Conditional regression and haplotype-specific analysis were performed using estimates of individual genetic ancestry in Brazilians as a quantitative trait. Similar patterns of LD were observed in the 5' and 3' gene regions. However, the frequency distribution of haplotype blocks varied among populations. Conditional regression analysis identified haplotypes associated with European and Amerindian ancestry, but not with the proportion of African ancestry. Individual ancestry estimates were associated with VDR haplotypes. These findings reinforce the need to correct for population stratification when performing genetic association studies in admixed populations.

CONTEXTUALIZAÇÃO: A incontinência urinária (IU) é de causa multifatorial, sendo atribuída, em parte, à fraqueza da musculatura do assoalho pélvico. Apesar de ser subestimada por muitas mulheres, a avaliação funcional do assoalho pélvico (AFA) pode contribuir para um correto diagnóstico e terapêutica adequada. OBJETIVOS: Comparar a função muscular do assoalho pélvico em mulheres continentes e incontinentes na pós menopausa como fator diagnóstico no tratamento da IU. MÉTODOS: A partir da investigação dos sintomas urinários, 153 mulheres (idade X=66,7±5,4) foram separadas em dois grupos (G1 incontinentes e G2 assintomáticas). Após análise dos critérios de inclusão, as mulheres foram submetidas à AFA por meio da palpação bidigital (classificação de Contreras Ortis, 1994) e à quantificação da pressão de contração perineal por meio do perineômetro (PERINA 996-2® QUARK). RESULTADOS: Observou-se prevalência de IU (54,9%) na amostra estudada, sendo a incontinência urinária de esforço (IUE) (41,7%) o tipo mais presente. Em relação aos sintomas urinários, como a frequência miccional diurna (p=0,004) e noturna (p=0,02), o grupo G1 apresentou um valor significativamente mais alto. A AFA mostrou resultados similares durante a palpação e o perineômetro, com diferenças significativas (p<0,001) entre os dois grupos. Utilizou-se estatística descritiva, teste t de Student para amostras independentes, medidas de prevalência e análise de variância (one-way ANOVA), seguida do post hoc de Bonferroni (p<0,05). O software Statistical Package for the Social Sciences (SPSS) versão 10,0 (SPSS, Chicago, IL) foi utilizado para realização de todas as análises. CONCLUSÕES: A palpação e o perineômetro se mostraram eficientes na avaliação da força e pressão de contração desse grupo muscular.

BACKGROUND: Urinary incontinence (UI) is multifactorial and attributed, in part, to weakness of the pelvic floor muscles. Despite being underestimated by many women, a functional pelvic floor assessment (FPA) may contribute to a correct diagnosis and appropriate treatment. OBJECTIVES: To compare the function of pelvic floor muscles in continent and incontinent postmenopausal women as a diagnostic factor in UI treatment. METHODS: Based on the investigation of urinary symptoms, 153 women (age X=66.7±5.4) were divided into two groups (G1-incontinent and G2-continent). After analysis of the inclusion criteria, the women were submitted to FPA by means of bidigital palpation according to Contreras Ortiz (1994) and quantification of perineal strength with a perineometer (PERINA 996-2 QUARK®). RESULTS: There was prevalence of UI (54.9%) in the sample, with stress urinary incontinence (41.7%) as the most common. Regarding urinary symptoms such as diurnal (p=0.004) and nocturnal (p=0.02) voiding frequency, G1 had a significantly higher value. The FPA found similar results via palpation and the perineometer, with significant differences (p<0.001) between the two groups. We used descriptive statistics, the Student t test for independent samples, measures of prevalence and one-way ANOVA, followed by Bonferroni's post-hoc test (p<0.05). The software Statistical Package for the Social Sciences (SPSS) version 10.0 (SPSS, Chicago, IL) was used to perform all tests. CONCLUSIONS: Palpation and the perineometer were efficient forms of assessing the force and pressure of the muscle contractions of this muscle group.

A observação de que indivíduos homozigotos para uma deleção de 32 pares de base no gene que codifica para o receptor 5 de cc-quimiocinas apresentam um menor risco de contrair a infecção por HIV-1 levou à investigação da freqüência deste polimorfismo em várias populações mundiais. É importante investigar se o CCR5delta32 é um fator a ser considerado na epidemiologia do HIV em populações individuais. Com estes pressupostos em mente nós estabelecemos a freqüência do CCR5delta32 em uma grande amostra (907 indivíduos não-relacionados) da população urbana do sudeste brasileiro, estratificada da seguinte maneira: 322 indivíduos sadios, 354 pacientes com câncer colorretal e 229 doadores de sangue. Os três grupos apresentaram essencialmente a mesma freqüência alélica de CCR5delta32 e a comparação par-a-par não revelou diferenças significativas. Assim, os nossos resultados podem ser agrupados para fornecer uma estimativa confiável de 0,053 ± 0,005 da freqüência alélica de CCR5delta32. Os doadores de sangue compreendiam 50 indivíduos soronegativos para HTLV-I, 115 indivíduos assintomáticos por ELISA mas com resultados indeterminados em Western blot, 49 indivíduos soropositivos para HTLV-I mas assintomáticos e 15 indivíduos soropositivos para HTLV-I sintomáticos com mielopatia. Foi observado um sugestivo gradiente decrescente da freqüência alélica de CCR5delta32 nestas categorias. Entretanto, quando aplicamos o teste exato de Fisher, não emergiram diferenças significativas. Para uma melhor avaliação da influência do alelo CCR5delta32 na probabilidade de infectar-se com HTLV-I ou de desenvolver doença clínica serão necessários estudos com um maior número de doadores de sangue.

The identification of a 32-bp deletion in the cc-chemokine receptor-5 gene (CCR5delta32 allele) that renders homozygous individuals highly resistant to HIV infection has prompted worldwide investigations of the frequency of the CCR5delta32 allele in regional populations. It is important to ascertain if CCR5delta32 is a factor to be considered in the overall epidemiology of HIV in individual populations. With this in mind we determined the CCR5delta32 allele frequency in a large sample (907 individuals) of the southeastern Brazilian urban population, stratified as follows: 322 healthy unrelated individuals, 354 unselected colorectal cancer patients, and 229 blood donors. The three groups displayed essentially identical allelic frequencies of CCR5delta32 and pairwise comparisons did not show significant differences. Thus, our results can be pooled to provide a reliable estimate of the CCR5delta32 allele frequency in the southeastern Brazil of 0.053 ± 0.005. The blood donors comprised 50 HTLV-I serologically negative individuals, 115 non-symptomatic individuals HTLV-I positive by ELISA but with indeterminate Western blot results, 49 healthy blood donors HTLV-I positive both at ELISA and Western blot and 15 patients with clinical spinal cord disease (HAM). A suggestive trend was observed, with the CCR5delta32 frequencies decreasing progressively in these four categories. However, when we applied Fischer's exact test no significant differences emerged. We believe that further studies in larger cohorts should be performed to ascertain whether the CCR5delta32 allele influences the chance of becoming infected or developing clinical symptoms of HTLV-I infection.

Para a detecção molecular de monossomia X em perdas fetais espontâneas, nós exploramos uma estratégia baseada em perda de heterozigosidade, desenvolvendo um sistema multiplex fluorescente que permite a amplificação simultânea de cinco microssatélites em uma região com baixa recombinação no cromossomo X. A análise foi então feita por densitometria a laser assistida por computador. Nenhum caso de homozigosidade em todos os cinco locos foi encontrado em 30 mulheres normais estudadas, nem em 37 mulheres cuja tipagem foi extraída do banco de dados do CEPH. Além disso, todos os casos de monossomia X previamente diagnosticados por citogenética convencional apresentaram a prevista perda de heterozigosidade. Quando estudamos 19 casos de perdas fetais femininas do primeiro trimestre da gravidez, encontramos quatro amostras uniformemente homozigotas em todos os locos (21%), de acordo com a proporção esperada de casos de monossomia X em perdas fetais do primeiro trimestre. Concluímos que o sistema multiplex que nós desenvolvemos apresenta alta diversidade e alta eficiência de amplificação pela PCR e constitui um método simples e útil de triagem para monossomia X em abortamentos e natimortos.

To screen for monosomy X in spontaneous fetal losses we explored a simple molecular strategy based on loss of heterozygosity at highly polymorphic X-linked loci. We developed a multiplex fluorescent procedure that allows the simultaneous amplification of five dinucleotide repeat polymorphisms in a large low-recombination region in the long arm of the X chromosome. Analysis was performed by computer-assisted laser densitometry. We did not find any instances of homozygosity at all five loci in 30 normal females tested, nor among 37 women whose typing data were retrieved from the Fondation Jean Dausset - CEPH genotype database. In addition, all cases of monosomy X previously diagnosed by conventional cytogenetics presented the anticipated loss of heterozygosity at all loci. We studied 19 spontaneously aborted female fetuses and we found four samples homozygous for the five loci (21%), in good agreement with the expected rate of monosomy X in first trimester spontaneous abortions. We conclude that the loci have high diversity and high efficiency in PCR-amplification and that our multiplex procedure constitutes a simple and useful molecular screening test for monosomy X in abortions and stillbirths.