Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions encountered in medical practice. A recent landmark SCZ study of the protein-coding regions of the genome identified a causal role for ten genes and a concentration of rare variant signals in evolutionarily constrained genes1. This recent study—and most other large-scale human genetics studies—was mainly composed of individuals of European (EUR) ancestry, and the generalizability of the findings in non-EUR populations remains unclear. To address this gap, we designed a custom sequencing panel of 161 genes selected based on the current knowledge of SCZ genetics and sequenced a new cohort of 11,580 SCZ cases and 10,555 controls of diverse ancestries. Replicating earlier work, we found that cases carried a significantly higher burden of rare protein-truncating variants (PTVs) among evolutionarily constrained genes (odds ratio = 1.48; P = 5.4 × 10−6). In meta-analyses with existing datasets totaling up to 35,828 cases and 107,877 controls, this excess burden was largely consistent across five ancestral populations. Two genes (SRRM2 and AKAP11) were newly implicated as SCZ risk genes, and one gene (PCLO) was identified as shared by individuals with SCZ and those with autism. Overall, our results lend robust support to the rare allelic spectrum of the genetic architecture of SCZ being conserved across diverse human populations

Five insights from the Global Burden of Disease Study 2019

The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019 provides a rules-based synthesis of the available evidence on levels and trends in health outcomes, a diverse set of risk factors, and health system responses. GBD 2019 covered 204 countries and territories, as well as first administrative level disaggregations for 22 countries, from 1990 to 2019. Because GBD is highly standardised and comprehensive, spanning both fatal and non-fatal outcomes, and uses a mutually exclusive and collectively exhaustive list of hierarchical disease and injury causes, the study provides a powerful basis for detailed and broad insights on global health trends and emerging challenges. GBD 2019 incorporates data from 281 586 sources and provides more than 3.5 billion estimates of health outcome and health system measures of interest for global, national, and subnational policy dialogue. All GBD estimates are publicly available and adhere to the Guidelines on Accurate and Transparent Health Estimate Reporting. From this vast amount of information, five key insights that are important for health, social, and economic development strategies have been distilled. These insights are subject to the many limitations outlined in each of the component GBD capstone papers.Peer reviewe

Curriculum o datos o lo que sea

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A língua expressa a identidade cultural de determinado grupo ou classe social, logo, resulta da junção de um conjunto de variedades existentes, sendo estas regidas por fatores extralinguísticos e intralinguísticos. No ambiente escolar, o ensino da variação linguística é muito importante, pois aproxima o aluno ao estudo do português brasileiro e das interações sociais que as envolvem. Nessa perspectiva, o objetivo deste trabalho é analisar a abordagem sobre variação linguística regional em livros didáticos de Língua Portuguesa do Ensino Fundamental II. A metodologia utilizada foi uma pesquisa qualitativa de cunho documental com três coleções didáticas da editora Moderna: “Se Liga na Língua”, de Wilton Ormundo e Cristiane Siniscalchi; “Singular e Plural”, de Marisa Balthasar com Shirley Goulart; e “Araibá Mais-interdisciplinar”, de Mariza Martins Sanchez, aprovadas no edital 01/2018 do Programa Nacional do Livro e do Material Didático PNLD 2020, válido de 2020 até 2023. Observou-se que a variação linguística regional nas coleções analisadas é trabalhada dentro dos gêneros tirinha, cartum, anúncio, poema, verbete e receita culinária. Os níveis de variação linguística trabalhados com maior incidência foram o campo fonético-fonológico e lexical. Já as regiões cujo registros foram predominantes nas atividades sobre variação linguística regional foram Sudeste, seguida do Sul e do Nordeste

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