Brazilians are highly admixed with ancestry from Europe, Africa, America, and Asia and yet still underrepresented in genomic databanks. We hereby present a collection of exomic variants from 609 elderly Brazilians in a census-based cohort (SABE609) with comprehensive phenotyping. Variants were deposited in ABraOM (Online Archive of Brazilian Mutations), a Web-based public database. Population representative phenotype and genotype repositories are essential for variant interpretation through allele frequency filtering; since elderly individuals are less likely to harbor pathogenic mutations for early- and adult-onset diseases, such variant databases are of great interest. Among the over 2.3 million variants from the present cohort, 1,282,008 were high-confidence calls. Importantly, 207,621 variants were absent from major public databases. We found 9,791 potential loss-of-function variants with about 300 mutations per individual. Pathogenic variants on clinically relevant genes (ACMG) were observed in 1.15% of the individuals and were correlated with clinical phenotype. We conducted incidence estimation for prevalent recessive disorders based upon heterozygous frequency and concluded that it relies on appropriate pathogenicity assertion. These observations illustrate the relevance of collecting demographic data from diverse, poorly characterized populations. Census-based datasets of aged individuals with comprehensive phenotyping are an invaluable resource toward the improved understanding of variant pathogenicity.

Desigualdades no uso e acesso aos serviços de saúde entre idosos do município de São PauloInequalities in access to health care services and utilization for the elderly in São Paulo, Brazil RESUMO OBJETIVO: Analisar os fatores relacionados à determinação e às desigualdades no acesso e uso dos serviços de saúde por idosos. MÉTODOS:Estudo integrante do Projeto Saúde, Bem-estar e Envelhecimento (SABE), no qual foram entrevistados 2.143 indivíduos com 60 anos ou mais no município de São Paulo, SP, em 2000. A amostra foi obtida em dois estágios, utilizando-se setores censitários com reposição, probabilidade proporcional à população e complementação da amostra de pessoas de 75 anos. Foi mensurado o uso de serviços hospitalares e ambulatoriais nos quatro meses anteriores à entrevista, relacionando-os com fatores de capacidade, necessidade e predisposição (renda total, escolaridade, seguro saúde, morbidade referida, auto-percepção, sexo e idade). O método estatístico utilizado foi regressão logística multivariada. RESULTADOS: Dos entrevistados, 4,7% referiram ter utilizado a internação hospitalar e 64,4% o atendimento ambulatorial. Dos atendimentos ambulatoriais em serviço público, 24,7% ocorreram em hospital e 24,1% em serviço ambulatorial; dentre os que ocorreram em serviços privados, 14,5% foram em hospital e 33,7% em clínicas. Pela análise multivariada, observou-se associação entre a utilização de serviços e sexo, presença de doenças, autopercepção de saúde, interação da renda e escolaridade e posse de seguro saúde. A análise isolada com escolaridade apresentou efeito inverso. CONCLUSÕES:Foram observadas desigualdades no uso e acesso aos serviços de saúde e inadequação do modelo de atenção, indicando necessidade de políticas públicas que levem em conta as especifi cidades dessa população, facilitem o acesso e possam reduzir essas desigualdades. DESCRITORES

To investigate the prevalence of urinary incontinence among elderly people living in São Pau

Abstract

OBJECTIVE To investigate the prevalence of demand and provision of care for the Brazilian population with functional disabilities in activities of daily living.METHODS This is a quantitative and descriptive study using baseline data from ELSI-Brazil (Brazilian Longitudinal Study of Aging), a cohort study with a representative sample of the Brazilian population aged 50 years or older (n = 9,412). We considered the demand for care from the self-report of having some difficulty to perform at least one activity of daily life (eating, bathing, going to the toilet, dressing, moving in a room [ambulation], and transferring from chair [transfer]). Care supply was measured by having some help to perform the activity of daily living.RESULTS Approximately a quarter of the individuals evaluated (23.2%) reported difficulty in at least one activity of daily living, especially regarding transfer and dressing. Age, schooling, and number of chronic diseases were significantly associated with the difficulty in activities of daily living. Among those who reported difficulty, 35.1% received help of others and 11.8% did not receive (lack of care). The activities with greater lack of care were bathing (13.3%) and transfer (11.7%), which reveals an undignified survival condition. Care remains a family (94.1%) and female (72.1%) issue; despite the important changes that have taken place in society, there is still a lack of care policies. Of the total caregivers, 25.8% reported stopping working or studying to perform this role and only 9.2% were paid (hired ones or family members).CONCLUSIONS The ELSI-Brazil results reveal the expressive care demand of the Brazilian population aged 50 years or older with functional disabilities on activities of daily living and the lack of care policies aimed at this public.

Resumo O objetivo do estudo foi analisar a mudança na prevalência de doença cardiovascular (DCV) entre 2000 e 2010 e sua associação com os fatores socioeconômicos e fatores de risco em idosos. A diferença da prevalência de DCV ao longo do período foi analisada por meio de modelos multinível bayesianos e a análise da associação entre a presença de DCV e os fatores individuais utilizou modelos de regressão logística para amostras complexas nos três períodos separadamente (2000, 2006 e 2010). A presente pesquisa utilizou os dados do Estudo de Saúde, Bem-Estar e Envelhecimento (SABE), realizada no município de São Paulo, referente às amostras de 2000, 2006 e 2010. Foi observado um aumento geral na prevalência de DCV em idosos no município de São Paulo na última década, apresentando prevalências iguais a 17,9% em 2000, 22,2% em 2006 e 22,9% em 2010. Em relação à prevalência em 2000, foi observado o aumento estatisticamente significativo da presença de DCV em 2006 (OR = 3,20 IC95% = 1,93-5,31) e 2010 (OR = 2,98 IC95% = 1,51-5,89), mesmo após o ajuste estatístico para características individuais. A presença de DCV apresentou associação com maior faixa etária, histórico de tabagismo e presença de diabetes e hipertensão arterial, sendo observada uma associação inversa entre a presença de DCV e a ingestão de álcool.

Accurate interpretation of germline mutations of the rearranged during transfection (RET) proto-oncogene is vital for the proper recommendation of preventive thyroidectomy in medullary thyroid carcinoma (MTC)-prone carriers. To gain information regarding the most disputed variant of RET, ATA-A Y791F, we sequenced blood DNA samples from a cohort of 2904 cancer-free elderly individuals (1261 via Sanger sequencing and 1643 via whole-exome/genome sequencing). We also accessed the exome sequences of an additional 8069 individuals from non-cancer-related laboratories and public databanks as well as genetic results from the Catalogue of Somatic Mutations in Cancer (COSMIC) project. The mean allelic frequency observed in the controls was 0.0031, with higher occurrences in Central European populations (0.006/0.008). The prevalence of RET Y791F in the control databases was extremely high compared with the 40 known RET pathogenic mutations (P=0.00003), while no somatic occurrence has been reported in tumours. In this study, we report new, unrelated Brazilian individuals with germline RET Y791F-only: two tumour-free elderly controls; two individuals with sporadic MTC whose Y791F-carrying relatives did not show any evidence of tumours; and a 74-year-old phaeochromocytoma patient without MTC. Furthermore, we showed that the co-occurrence of Y791F with the strong RET C634Y mutation explains the aggressive MTC phenotypes observed in a large affected family that was initially reported as Y791F-only. Our literature review revealed that limited analyses have led to the misclassification of RET Y791F as a probable pathogenic variant and, consequently, to the occurrence of unnecessary thyroidectomies. The current study will have a substantial clinical influence, as it reveals, in a comprehensive manner, that RET Y791F only shows no association with MTC susceptibility.

BackgroundThis study aimed to estimate coverage and identify factors associated to vaccination against influenza in the elderly population.MethodsThe study design was cross-sectional and population based. Data was collected in 2010 by the Health, Well-Being and Aging Study. Sample consisted of 1,341 community-dwelling elderly, in São Paulo, Brazil. Association between vaccination and covariates was evaluated by means of prevalence ratios estimated by Poisson regression models.ResultsSelf-reported vaccination coverage was 74.2% (95% confidence interval: 71.3–76.9). Remaining physically active and having had recent interaction with health services, mainly with public units of healthcare, were the main incentives to increase vaccination coverage among the elderly; whereas lower age, living alone and absent interaction with health services were the main constraints to influenza vaccination at the community level. These covariates had already been reported to influence influenza vaccination of elders in previous years.ConclusionPrevious knowledge already available on the main constraints to influenza vaccination has not allowed to remove them. Influenza campaigns should be strengthened to increase vaccination coverage, especially in the group more reticent to vaccination. Instructing healthcare providers to recommend vaccine uptake is an important piece of this puzzle.