25 research outputs found

    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

    Finishing the euchromatic sequence of the human genome

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    The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

    Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

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    Funder: European Society of Intensive Care Medicine; doi: http://dx.doi.org/10.13039/501100013347Funder: Flemish Society for Critical Care NursesAbstract: Purpose: Intensive care unit (ICU) patients are particularly susceptible to developing pressure injuries. Epidemiologic data is however unavailable. We aimed to provide an international picture of the extent of pressure injuries and factors associated with ICU-acquired pressure injuries in adult ICU patients. Methods: International 1-day point-prevalence study; follow-up for outcome assessment until hospital discharge (maximum 12 weeks). Factors associated with ICU-acquired pressure injury and hospital mortality were assessed by generalised linear mixed-effects regression analysis. Results: Data from 13,254 patients in 1117 ICUs (90 countries) revealed 6747 pressure injuries; 3997 (59.2%) were ICU-acquired. Overall prevalence was 26.6% (95% confidence interval [CI] 25.9–27.3). ICU-acquired prevalence was 16.2% (95% CI 15.6–16.8). Sacrum (37%) and heels (19.5%) were most affected. Factors independently associated with ICU-acquired pressure injuries were older age, male sex, being underweight, emergency surgery, higher Simplified Acute Physiology Score II, Braden score 3 days, comorbidities (chronic obstructive pulmonary disease, immunodeficiency), organ support (renal replacement, mechanical ventilation on ICU admission), and being in a low or lower-middle income-economy. Gradually increasing associations with mortality were identified for increasing severity of pressure injury: stage I (odds ratio [OR] 1.5; 95% CI 1.2–1.8), stage II (OR 1.6; 95% CI 1.4–1.9), and stage III or worse (OR 2.8; 95% CI 2.3–3.3). Conclusion: Pressure injuries are common in adult ICU patients. ICU-acquired pressure injuries are associated with mainly intrinsic factors and mortality. Optimal care standards, increased awareness, appropriate resource allocation, and further research into optimal prevention are pivotal to tackle this important patient safety threat

    Mapa de publicações científicas e análise bibliométrica da revista Folia Amazónica em Loreto, Peru

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    Objective. Develop a map of publications showing spatialized scientific research through geographic coordinate points in the Loreto region, preliminary with publications from the journal Amazon Folia.Method. Cartographic and bibliometric techniques were applied to analyze 255 scientific articles published between 1988 and 2016 in the journal Amazon Folia.Results. The publications were centralized in the area of influence of the Iquitos – Nauta, Jenaro Herrera, low and middle basin of the Nanay river and left sector of the Marañón river basin. The scientific network generated through the journal Amazonian Folia showed a "non-related" figure. Institutional affiliations corresponded to 71 entities, 12 countries and 386 authors, where Peru and France had the highest scientific output, inso day as the United States had more institutions affiliated with the journal Amazonian Folia after Peru.Conclusion. The publication map represents a great research tool with projection of development and scientific management. Integration with other journals will allow to guide projects that contribute to the development of the Loreto region and in the future in the Amazonian field.Objetivo. Elaborar un mapa de publicaciones donde se visualicen las investigaciones científicas espacializadas a través de puntos de coordenadas geográficas en el departamento de Loreto, de forma preliminar con publicaciones de la revista Folia Amazónica.Método. Se aplicaron técnicas cartográficas y bibliométricas para analizar 255 artículos científicos publicados entre los años 1988 y 2016 en la revista Folia Amazónica.Resultados. Las publicaciones estuvieron centralizadas en el área de influencia de la carretera Iquitos – Nauta, Jenaro Herrera, cuenca baja y media del río Nanay y sector izquierdo de la cuenca del río Marañón. La red científica generada a través de la revista Folia Amazónica evidenció una figura “no conexa”. Las afiliaciones institucionales correspondieron a 71 entidades, 12 países y 386 autores, donde Perú y Francia tuvieron mayor producción científica, en tanto Estados Unidos tuvo mayor cantidad de instituciones afiliadas a la revista Folia Amazónica después del Perú.Conclusiones. El mapa de publicaciones representa una gran herramienta de investigación con proyección de desarrollo y gestión científica. La integración con otras revistas permitirá orientar proyectos que coadyuven al desarrollo del departamento de Loreto y en un futuro en el ámbito amazónicos.Objetivo. Elaborar um mapa de publicações onde as pesquisas científicas espacializadas através de pontos de coordenadas geográficas no departamento de Loreto sejam visualizadas, de forma preliminar com publicações da revista Folia Amazónica. Método. Técnicas cartográficas e bibliométricas foram aplicadas para analisar 255 artigos científicos publicados entre 1988 e 2016 na revista Folia Amazónica. Resultados. As publicações estavam centradas na área de influência da rodovia Iquitos - Nauta, Jenaro Herrera, na bacia baixa e média do rio Nanay e no setor esquerdo da bacia do rio Marañón. A rede científica gerada através da revista Folia Amazónica mostrou uma figura "sem ligação". As afiliações institucionais corresponderam a 71 entidades, 12 países e 386 autores, onde o Peru e a França tiveram a maior produção científica, enquanto os Estados Unidos tiveram o maior número de instituições afiliadas à revista Folia Amazónica depois do Peru. Conclusões. O mapa de publicações representa uma grande ferramenta de pesquisa com projeção de desenvolvimento científico e gerenciamento. A integração com outros periódicos permitirá a orientação de projetos que contribuam para o desenvolvimento do departamento de Loreto e no futuro da região amazônica

    Cognitive decline in Huntington's disease expansion gene carriers

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    Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

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    Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

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