16 research outputs found

    Las actitudes de los pobladores del cercado de Ica en la conservación del entorno ambiental, está relacionado con el nivel de conocimientos ambientales

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    El estudio de investigación tuvo como objetivo determinar la relación que existe en las actitudes de los pobladores del cercado de Ica en la conservación del entorno ambiental está relacionado con el nivel de conocimientos ambientales. El método empleado fue el descriptivo, correlacional, para la recolección de los datos se aplicó un cuestionario con preguntas sobre conservación y conocimientos sobre aspectos ambientales. Los resultados de la investigación demuestran la existencia de una relación estadísticamente significativa entre la conservación del entorno ambiental y el nivel de conocimientos ambientales de los pobladores del cercado de Ica. Palabras claves: Actitudes, conservación, nivel, pobladores

    Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

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    Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via poorly understood mechanisms. We performed a trans-ancestry genome-wide association study of serum urate in 457,690 individuals, identifying 183 loci (147 previously unknown) that improve the prediction of gout in an independent cohort of 334,880 individuals. Serum urate showed significant genetic correlations with many cardiometabolic traits, with genetic causality analyses supporting a substantial role for pleiotropy. Enrichment analysis, fine-mapping of urate-associated loci and colocalization with gene expression in 47 tissues implicated the kidney and liver as the main target organs and prioritized potentially causal genes and variants, including the transcriptional master regulators in the liver and kidney, HNF1A and HNF4A. Experimental validation showed that HNF4A transactivated the promoter of ABCG2, encoding a major urate transporter, in kidney cells, and that HNF4A p.Thr139Ile is a functional variant. Transcriptional coregulation within and across organs may be a general mechanism underlying the observed pleiotropy between urate and cardiometabolic traits.The Genotype-Tissue Expression (GTEx) Project was supported by the Common Fund of the Office of the Director of the National Institutes of Health, and by NCI, NHGRI, NHLBI, NIDA, NIMH, and NINDS. Variant annotation was supported by software resources provided via the Caché Campus program of the InterSystems GmbH to Alexander Teumer

    International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

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    Consentiment informat dinàmic versus consentiment ampli en biobancs

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    Immunohistochemical analyses of alpha1 and alpha3 Na+/K+-ATPase subunit expression in medulloblastomas.

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    The levels of expression of the α1 and α3 subunits of the Na(+)/K(+)-ATPase (the NaK sodium pump) in medulloblastomas are unclear.Journal ArticleSCOPUS: ar.jinfo:eu-repo/semantics/publishe

    Extensive acantholysis as the major histological feature of a severe case of Dowling Meara-epidermolysis bullosa simplex: a reappraisal of acantholysis in the newborn

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    Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin disorders characterized by blistering and skin fragility secondary to mechanical trauma. Epidermolysis bullosa simplex (EBS) is the most frequent form of EB, with Dowling-Meara (DM-EBS) subtype being the most severe form in this group. Conventional histopathological evaluation is usually of low value in the diagnosis of EB, and significant histological features have rarely been reported in this group of diseases. We describe a case of severe DM-EBS in which acantholysis was observed in the histological examination. This finding led us to consider other diagnoses, such as neonatal pemphigus vulgaris or lethal acantholytic EB. Histological, immunological, ultrastructural and genetic tests were performed, leading to a final diagnosis of DM-EBS. Therefore, we believe that DM-EBS should be considered in the differential diagnosis of a newborn with blisters, where acantholysis is the main histological feature
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