48 research outputs found

    ASEAN Regional Entrepreneurship Report 2015/2016

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    For three years (2013 – 2015), a comprehensive research on entrepreneurship has been carried out to understand the nature, characteristics and dynamics of entrepreneurs and enterprise formation within Southeast Asia, including perceptions, aspirations and practices of women and youth with respect to entrepreneurship. In ASEAN, 48.4% of the population are women (WorldBank, 2016), and their impact can be significant both for innovation and job creation. And they are making some significant inroads

    Current laboratory and clinical practices in reporting and interpreting anti?nuclear antibody indirect immunofluorescence (ANA IIF) patterns: results of an international survey

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    Background: The International Consensus on Antinuclear Antibody (ANA) Patterns (ICAP) has recently proposed nomenclature in order to harmonize ANA indirect immunofluorescence (IIF) pattern reporting. ICAP distinguishes competent-level from expert-level patterns. A survey was organized to evaluate reporting, familiarity, and considered clinical value of ANA IIF patterns. Methods: Two surveys were distributed by European Autoimmunity Standardization Initiative (EASI) working groups, the International Consensus on ANA Patterns (ICAP) and UK NEQAS to laboratory professionals and clinicians. Results: 438 laboratory professionals and 248 clinicians from 67 countries responded. Except for dense fine speckled (DFS), the nuclear competent patterns were reported by>85% of the laboratories. Except for rods and rings, the cytoplasmic competent patterns were reported by>72% of laboratories. Cytoplasmic IIF staining was considered ANA positive by 55% of clinicians and 62% of laboratory professionals, with geographical and expertise-related differences. Quantification of fluorescence intensity was considered clinically relevant for nuclear patterns, but less so for cytoplasmic and mitotic patterns. Combining IIF with specific extractable nuclear antigens (ENA)/dsDNA antibody testing was considered most informative. Of the nuclear competent patterns, the centromere and homogeneous pattern obtained the highest scores for clinical relevance and the DFS pattern the lowest. Of the cytoplasmic patterns, the reticular/mitochondria-like pattern obtained the highest scores for clinical relevance and the polar/Golgi-like and rods and rings patterns the lowest. Conclusion: This survey confirms that the major nuclear and cytoplasmic ANA IIF patterns are considered clinically important. There is no unanimity on classifying DFS, rods and rings and polar/Golgi-like as a competent pattern and on reporting cytoplasmic patterns as ANA IIF positive

    Rethinking patient’s chief complaint, research contributions developed by medical students to person-centered care

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    INTRODUCTION: Traditionally, anamnesis, or medical interviews, have been the main tools in diagnosing health issues and indicating therapeutic intervention. Medical interviews perform clinical methods and hence medical theory. OBJECTIVE: In this paper, we will present a learning experience process gained during an introductory course on research. METHODOLOGY: Based on a clinical report designed for the purposes of investigation, a group of students and an advisor analyzed the role of the chief complaint in providing healthcare. RESULTS: Students noticed the case did not express the chief complaint of the patient. In addition, there was difficulty in articulating social and biological data in the report. Such findings were discussed by the group considering the literature on medical interviews and the medical anthropology framework in order to broaden their understanding of subjective and sociocultural aspects of illness. CONCLUSION: Group discussions about the case and the literature made it possible to expand the students' understanding. We argue that taking into account the main complaints can reveal a complex range of sociocultural meanings and webs relevant to understanding the health concepts and practices of patients and their microsocial groups. In doing so, we hope to contribute to the debates around medical education and the appreciation of sociocultural aspects in health practices. And, thus, enrich the caregiver-patient relationship towards person-centered care

    Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

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    Birth weight variation is influenced by fetal and maternal genetic and non-genetic factors, and has been reproducibly associated with future cardio-metabolic health outcomes. In expanded genome-wide association analyses of own birth weight (n = 321,223) and offspring birth weight (n = 230,069 mothers), we identified 190 independent association signals (129 of which are novel). We used structural equation modeling to decompose the contributions of direct fetal and indirect maternal genetic effects, then applied Mendelian randomization to illuminate causal pathways. For example, both indirect maternal and direct fetal genetic effects drive the observational relationship between lower birth weight and higher later blood pressure: maternal blood pressure-raising alleles reduce offspring birth weight, but only direct fetal effects of these alleles, once inherited, increase later offspring blood pressure. Using maternal birth weight-lowering genotypes to proxy for an adverse intrauterine environment provided no evidence that it causally raises offspring blood pressure, indicating that the inverse birth weight-blood pressure association is attributable to genetic effects, and not to intrauterine programming.The Fenland Study is funded by the Medical Research Council (MC_U106179471) and Wellcome Trust

    The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia : design, results and future prospects

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    The impact of many unfavorable childhood traits or diseases, such as low birth weight and mental disorders, is not limited to childhood and adolescence, as they are also associated with poor outcomes in adulthood, such as cardiovascular disease. Insight into the genetic etiology of childhood and adolescent traits and disorders may therefore provide new perspectives, not only on how to improve wellbeing during childhood, but also how to prevent later adverse outcomes. To achieve the sample sizes required for genetic research, the Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia were established. The majority of the participating cohorts are longitudinal population-based samples, but other cohorts with data on early childhood phenotypes are also involved. Cohorts often have a broad focus and collect(ed) data on various somatic and psychiatric traits as well as environmental factors. Genetic variants have been successfully identified for multiple traits, for example, birth weight, atopic dermatitis, childhood BMI, allergic sensitization, and pubertal growth. Furthermore, the results have shown that genetic factors also partly underlie the association with adult traits. As sample sizes are still increasing, it is expected that future analyses will identify additional variants. This, in combination with the development of innovative statistical methods, will provide detailed insight on the mechanisms underlying the transition from childhood to adult disorders. Both consortia welcome new collaborations. Policies and contact details are available from the corresponding authors of this manuscript and/or the consortium websites.Peer reviewe

    The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia:design, results and future prospects

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    New genetic loci link adipose and insulin biology to body fat distribution.

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    Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms

    Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors

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    Background Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders. Methods We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors. Results Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged. Conclusions Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders.Peer reviewe

    Nascidos vivos com hemangioma e linfangioma no Brasil: estudo epidemiológico.

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    Introduction: Hemangiomas and lymphangiomas represent congenital vascular conditions affecting the circulatory and lymphatic systems, respectively. Hemangiomas consist of abnormal blood vessels, while lymphangiomas are composed of altered lymphatic vessels. Both conditions are typically identified in newborns or young children, though they can manifest at any age. Methodology: This study constitutes a descriptive epidemiological analysis focused on investigating cases of hemangioma and lymphangioma in live births in Brazil. Data collection will be conducted through the Live Birth Information System (SINASC) during the period from 2017 to 2021. Results: In the Northern region, 25 cases were recorded, representing 4.86% of the total live births with hemangioma and lymphangioma in the sample. In the Northeast region, this proportion is slightly higher, with 76 cases, accounting for 14.79% of the total. The Southeast holds the highest proportion, with 316 cases, representing a significant 61.48% of the sample. In the Southern region, 69 cases were recorded, comprising 13.42% of the total. Finally, in the Central-West region, 28 cases were counted, representing 5.45% of the sample. Conclusion: This meticulous analysis of variables related to live births with these conditions provides valuable insights that go beyond mere numerical understanding. The relevance of this profile is evident when considering various aspects.Introdução: Hemangiomas e linfangiomas representam condições vasculares congênitas que afetam o sistema circulatório e linfático, respectivamente. Os hemangiomas são formados por vasos sanguíneos anormais, enquanto os linfangiomas são compostos por vasos linfáticos alterados. Ambas as condições são geralmente identificadas em recém-nascidos ou crianças pequenas, embora possam se manifestar em qualquer idade. Metodologia: Esta pesquisa configura uma análise epidemiológica descritiva voltada para a investigação de casos de hemangioma e linfangioma em nascidos vivos no Brasil. A coleta de dados será conduzida por meio do Sistema de Informações sobre Nascidos Vivos (SINASC) no período compreendido entre 2017 e 2021. Resultado: Na região Norte, foram registrados 25 casos, representando 4,86% do total de nascidos vivos com hemangioma e linfangioma na amostra. Já na região Nordeste, essa proporção é um pouco maior, com 76 casos, correspondendo a 14,79% do total. O Sudeste detém a maior proporção, com 316 casos, representando expressivos 61,48% da amostra. Na região Sul, foram registrados 69 casos, compreendendo 13,42% do total. Por fim, na região Centro-Oeste, foram contabilizados 28 casos, representando 5,45% da amostra. Conclusão: Essa análise minuciosa das variáveis relacionadas a nascidos vivos com essas condições proporciona insights valiosos que transcendem a simples compreensão numérica. A relevância desse perfil é evidente ao considerar vários aspectos
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