557 research outputs found

    Importancia de los alimentos lácteos en la salud cardiovascular: ¿enteros o desnatados?

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    Las guías nutricionales incorporan los lácteos como parte de una dieta equilibrada y saludable. En la mayoría de las ocasiones se especifica que los productos lácteos sean preferentemente bajos en grasa o desnatados. La razón que subyace a esta limitación es el aporte de ácidos grasos saturados (AGS) inherente al consumo de grasa láctea.Recientemente se ha planteado que valorar los alimentos según el aporte de nutrientes que contienen de forma aislada conlleva a interpretar de forma limitante sus funciones y propiedades. El conocimiento de la matriz alimentaria permite valorar el efecto sobre la salud de los alimentos en su totalidad al considerar, todos los componentes que contiene, y la interacción tras su consumo.Los productos lácteos son un ejemplo para destacar la importancia de la matriz alimentaria como un determinante del efecto que pueden ejercer los nutrientes del alimento. Los efectos potencialmente nocivos de los AGS sobre la salud cardiometabólica parecen no ser tales cuando se consumen como parte de alimentos con matrices alimentarias ricas en nutrientes como son la leche, el yogur, el queso u otros productos lácteos.Estudios epidemiológicos de grandes cohortes poblacionales seguidas a largo plazo muestran que el consumo de productos lácteos, especialmente de yogur, no se asocia con un aumento del riesgo cardiovascular. Por tanto, no existen suficientes evidencias científicas para recomendar a la población general el consumo de productos lácteos bajos en grasa o desnatados de forma preferente, en lugar de su versión entera. The nutritional guidelines incorporate dairy products as part of a balanced and healthy diet. In almost all guidelines it is announced that dairy products have to preferably be consumed as non or low-fat version. The reason behind this recommendation is the intake of saturated fatty acids (SFA). Recently, it has been suggested that building nutritional recommendations according to the nutrient food content, leads to a limiting interpretation of the functions and properties of the consumed food. Lately, the research focus has been shifted towards the study of the food matrix, which allows assessing health effects considering all the components contained in the foods, and their impact in human health. Dairy products are the perfect example to highlight the importance of the food matrix as a determinant of the effects of nutrients on health. The potentially harmful effects of SFA on cardiometabolic health seem to be different when they are consumed within nutrient-rich foods such as yogurt, cheese or other dairy products. Epidemiological studies with large population cohorts and long term follow-up show that consumption of dairy products, especially yogurt, is not associated with an increased cardiovascular risk. Therefore, there is not enough scientific evidence to preferentially recommend the consumption of non-fat or low-fat dairy products to the general population, instead of its whole-fat version

    Entanglement renormalization and boundary critical phenomena

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    The multiscale entanglement renormalization ansatz is applied to the study of boundary critical phenomena. We compute averages of local operators as a function of the distance from the boundary and the surface contribution to the ground state energy. Furthermore, assuming a uniform tensor structure, we show that the multiscale entanglement renormalization ansatz implies an exact relation between bulk and boundary critical exponents known to exist for boundary critical systems.Comment: 6 pages, 4 figures; for a related work see arXiv:0912.164

    The Circadian Deadenylase Nocturnin Is Necessary for Stabilization of the iNOS mRNA in Mice

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    Nocturnin is a member of the CCR4 deadenylase family, and its expression is under circadian control with peak levels at night. Because it can remove poly(A) tails from mRNAs, it is presumed to play a role in post-transcriptional control of circadian gene expression, but its target mRNAs are not known. Here we demonstrate that Nocturnin expression is acutely induced by the endotoxin lipopolysaccharide (LPS). Mouse embryo fibroblasts (MEFs) lacking Nocturnin exhibit normal patterns of acute induction of TNFα and iNOS mRNAs during the first three hours following LPS treatment, but by 24 hours, while TNFα mRNA levels are indistinguishable from WT cells, iNOS message is significantly reduced 20-fold. Accordingly, analysis of the stability of the mRNAs showed that loss of Nocturnin causes a significant decrease in the half-life of the iNOS mRNA (t1/2 = 3.3 hours in Nocturnin knockout MEFs vs. 12.4 hours in wild type MEFs), while having no effect on the TNFα message. Furthermore, mice lacking Nocturnin lose the normal nighttime peak of hepatic iNOS mRNA, and have improved survival following LPS injection. These data suggest that Nocturnin has a novel stabilizing activity that plays an important role in the circadian response to inflammatory signals

    Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes

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    The titin gene (TTN) is associated with several diseases, including inherited arrhythmias. Most of these diagnoses are attributed to rare TTN variants encoding truncated forms, but missense variants represent a diagnostic challenge for clinical genetics. The proper interpretation of genetic data is critical for translation into the clinical setting. Notably, many TTN variants were classified before 2015, when the American College of Medical Genetics and Genomics (ACMG) published recommendations to accurately classify genetic variants. Our aim was to perform an exhaustive reanalysis of rare missense TTN variants that were classified before 2015, and that have ambiguous roles in inherited arrhythmogenic syndromes. Rare missense TTN variants classified before 2015 were updated following the ACMG recommendations and according to all the currently available data. Our cohort included 193 individuals definitively diagnosed with an inherited arrhythmogenic syndrome before 2015. Our analysis resulted in the reclassification of 36.8% of the missense variants from unknown to benign/likely benign. Of all the remaining variants, currently classified as of unknown significance, 38.3% showed a potential, but not confirmed, deleterious role. Most of these rare missense TTN variants with a suspected deleterious role were identified in patients diagnosed with hypertrophic cardiomyopathy. More than 35% of the rare missense TTN variants previously classified as ambiguous were reclassified as not deleterious, mainly because of improved population frequencies. Despite being inconclusive, almost 40% of the variants showed a potentially deleterious role in inherited arrhythmogenic syndromes. Our results highlight the importance of the periodical reclassification of rare missense TTN variants to improve genetic diagnoses and help increase the accuracy of personalized medicine

    Molecular, phenotypic, and sample-associated data to describe pluripotent stem cell lines and derivatives

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    The use of induced pluripotent stem cells (iPSC) derived from independent patients and sources holds considerable promise to improve the understanding of development and disease. However, optimized use of iPSC depends on our ability to develop methods to efficiently qualify cell lines and protocols, monitor genetic stability, and evaluate self-renewal and differentiation potential. To accomplish these goals, 57 stem cell lines from 10 laboratories were differentiated to 7 different states, resulting in 248 analyzed samples. Cell lines were differentiated and characterized at a central laboratory using standardized cell culture methodologies, protocols, and metadata descriptors. Stem cell and derived differentiated lines were characterized using RNA-seq, miRNA-seq, copy number arrays, DNA methylation arrays, flow cytometry, and molecular histology. All materials, including raw data, metadata, analysis and processing code, and methodological and provenance documentation are publicly available for re-use and interactive exploration at https://www.synapse.org/pcbc. The goal is to provide data that can improve our ability to robustly and reproducibly use human pluripotent stem cells to understand development and disease

    Pesticides and health: A review of evidence on health effects, valuation of risks, and benefit‐cost analysis

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    In this paper, we provide reviews of recent scientific findings on health effects and preference valuation of health risks related to pesticides, and the role of benefit‐cost analysis in policies related to pesticides. Our reviews reveal that whereas the focus of the health literature has been on individuals with direct exposure to pesticides, e.g. farmers, the literature on preference elicitation has focused on those with indirect exposure, e.g. consumers. Our discussion of pesticides policies emphasizes the need to clarify the rationale for regulation and the role of risk perceptions in benefit‐cost analysis, and stress the importance of inter‐disciplinary research in this area

    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

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    Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal the molecular causes underlying undiagnosed rare diseases. One of the goals is to implement innovative approaches to reanalyse the exomes and genomes from thousands of well-studied undiagnosed cases. The raw genomic data is submitted to Solve-RD through the RD-Connect Genome-Phenome Analysis Platform (GPAP) together with standardised phenotypic and pedigree data. We have developed a programmatic workflow to reanalyse genome-phenome data. It uses the RD-Connect GPAP’s Application Programming Interface (API) and relies on the big-data technologies upon which the system is built. We have applied the workflow to prioritise rare known pathogenic variants from 4411 undiagnosed cases. The queries returned an average of 1.45 variants per case, which first were evaluated in bulk by a panel of disease experts and afterwards specifically by the submitter of each case. A total of 120 index cases (21.2% of prioritised cases, 2.7% of all exome/genome-negative samples) have already been solved, with others being under investigation. The implementation of solutions as the one described here provide the technical framework to enable periodic case-level data re-evaluation in clinical settings, as recommended by the American College of Medical Genetics
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