11 research outputs found

    Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

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    INTRODUCTION: Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways. METHODS: Genome Research at Fundacio ACE (GR@ACE) is a genome-wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden. We assessed the impact of known AD loci across endophenotypes to generate loci categories. We incorporated gene coexpression data and conducted pathway analysis per category. Finally, to evaluate the effect of heterogeneity in genetic studies, GR@ACE series were meta-analyzed with additional genome-wide association study data sets. RESULTS: We classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected as a causal mechanism in probable AD. The meta-analysis strategy revealed the ANKRD31-rs4704171 and NDUFAF6-rs10098778 and confirmed SCIMP-rs7225151 and CD33-rs3865444. DISCUSSION: The regulation of vasculature is a prominent causal component of probable AD. GR@ACE meta-analysis revealed novel AD genetic signals, strongly driven by the presence of clinical heterogeneity in the AD series

    Escenarios para una Empresa Socialmente Responsable en e Posconflicto Colombiano (Scenarios for a Socially Responsible Company in the Colombian Post-Conflict)

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    Genomics of bacteria and archaea: the emerging dynamic view of the prokaryotic world

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    PhD Thesis: Trends in Social Assistance, Minimum Income Benefits and Income Polarization in an International Perspective

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      This thesis collects six empirical studies regarding the developments of social assistance benefits, their determinants and the impact of the benefit changes on income polarization. The first study suggests that the real minimum income benefit levels increased in many OECD countries whilst minimum income replacement rates declined on average. The increased benefit levels reflect policy changes while the declined replacement rates do not reflect benefit cuts but larger wage increases. The second study shows that globalization, soaring levels of unemployment and trade unions have triggered social assistance and minimum income benefit reforms. The third study indicates that the Lisbon Strategy has been positively associated with minimum income benefit developments since 2005. The findings in the fourth study suggest that in China, minimum income benefit programs vary considerably across regions and the benefit generosity has been increasing over the decade although still at low levels in an international perspective. The fifth and sixth studies focus on the indicator of income polarization to analyze income distribution. The fifth study shows that income polarization is stable in European countries and Europe as a whole. The sixth study further indicates that tax-benefit systems are essential in reducing initial market income polarization.  Chinese Scholarship CouncilHervorming Sociale Regelgevin

    A contribuição dos estudos transculturais dos países latino-americanos e caribenhos para a revisão da CID-10: resultados preliminares The contribution of Latin American and Caribbean countries on culture bound syndromes studies for the ICD-10 revision: key findings from a working in progress

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    OBJETIVO: Esta revisão visa identificar as evidências dos estudos de países da América Latina e do Caribe para a inclusão das síndromes transculturais na versão da Classificação Internacional de Doenças para sua 11ª Edição. MÉTODO: Os estudos foram identificados nas bases do Medline, LILACS e EMBASE, no período de 1992 a 2008, e classificados segundo o tipo de estudo, tipo de transtorno, país e número de publicações por ano. RESULTADOS: Foram selecionadas e classificadas 163 publicações: 33 no Medline, 90 no EMBASE e 40 no LILACS. A percentagem das síndromes transculturais ("culture bound-syndrome") correspondeu a 9% no Medline, 12% no EMBASE e 2,5% no LILACS. Dos 15 estudos sobre síndromes transculturais, dois eram sobre "nervios e ataque de nervios", dois sobre "susto", quatro sobre a relação entre crenças religiosas, "feitiçaria", transe e apresentação dos transtornos mentais, um sobre proposta de uma nova categoria diagnóstica, três artigos teóricos e três sobre psicopatoplastia dos transtornos mentais. CONCLUSÃO: A escassez de estudos sobre síndromes transculturais pode ter ocorrido pela dificuldade em rastrear os estudos por problema de indexação das publicações, falta de interesse em publicar tais estudos em periódicos indexados e a dificuldade de acesso às publicações. Dentre os estudos identificados, não há uma evidência clara que aponte quais modificações são necessárias nas classificações diagnósticas atuais.<br>OBJECTIVE: This review aims to verify the scientific evidences for the inclusion of culture bound syndromes in the International Classification of Diseases towards its 11th edition based on studies from Latin American and Caribbean countries. METHOD: Studies were identified in Medline, LILACS and EMBASE databases for the period between 1992 and 2008, and then classified according to the type of study, to the mental disorder, country and number of publications per year. RESULTS: 163 studies were selected and classified: 33 in MedlLne, 90 in EMBASE e 40 in LILACS. The percentage of culture bound-syndrome corresponded to 9% in Medline, 12% in EMBASE e 2.5% in LILACS. Among fifteen studies on cultural bound syndromes, two were about "nervios and ataque de nervios", two about "susto", four about the relationship between religion beliefs, witchery, trance and mental disorders, one with a proposal for new diagnostic category, three about theoretic issues and three about the pathoplasty of mental disorders. CONCLUSION: The scarcity of studies on culture bound syndromes might be due to the indexation problems hindering the screening of studies; lack of interest on publishing such studies in indexed journals (publication bias) and due to difficulty to access them. There is no robust evidence identified among cross-cultural studies to recommend changes for International Classification of Diseases-11th edition

    Heat Stress and Reproduction

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