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showing 10 items of 1268 documents
WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas
2021
Abstract Many hereditary cancer syndromes are associated with an increased risk of small and large intestinal adenocarcinomas. However, conditions bearing a high risk to both adenocarcinomas and neuroendocrine tumors are yet to be described. We studied a family with 16 individuals in four generations affected by a wide spectrum of intestinal tumors, including hyperplastic polyps, adenomas, small intestinal neuroendocrine tumors, and colorectal and small intestinal adenocarcinomas. To assess the genetic susceptibility and understand the novel phenotype, we utilized multiple molecular methods, including whole genome sequencing, RNA sequencing, single cell sequencing, RNA in situ hybridization…
m6A RNA methylation of major satellite repeat transcripts facilitates chromatin association and RNA:DNA hybrid formation in mouse heterochromatin
2021
Abstract Heterochromatin has essential functions in maintaining chromosome structure, in protecting genome integrity and in stabilizing gene expression programs. Heterochromatin is often nucleated by underlying DNA repeat sequences, such as major satellite repeats (MSR) and long interspersed nuclear elements (LINE). In order to establish heterochromatin, MSR and LINE elements need to be transcriptionally competent and generate non-coding repeat RNA that remain chromatin associated. We explored whether these heterochromatic RNA, similar to DNA and histones, may be methylated, particularly for 5-methylcytosine (5mC) or methyl-6-adenosine (m6A). Our analysis in mouse ES cells identifies only b…
Machine learning of reverse transcription signatures of variegated polymerases allows mapping and discrimination of methylated purines in limited tra…
2020
AbstractReverse transcription (RT) of RNA templates containing RNA modifications leads to synthesis of cDNA containing information on the modification in the form of misincorporation, arrest, or nucleotide skipping events. A compilation of such events from multiple cDNAs represents an RT-signature that is typical for a given modification, but, as we show here, depends also on the reverse transcriptase enzyme. A comparison of 13 different enzymes revealed a range of RT-signatures, with individual enzymes exhibiting average arrest rates between 20 and 75%, as well as average misincorporation rates between 30 and 75% in the read-through cDNA. Using RT-signatures from individual enzymes to trai…
NOseq: amplicon sequencing evaluation method for RNA m6A sites after chemical deamination
2020
Abstract Methods for the detection of m6A by RNA-Seq technologies are increasingly sought after. We here present NOseq, a method to detect m6A residues in defined amplicons by virtue of their resistance to chemical deamination, effected by nitrous acid. Partial deamination in NOseq affects all exocyclic amino groups present in nucleobases and thus also changes sequence information. The method uses a mapping algorithm specifically adapted to the sequence degeneration caused by deamination events. Thus, m6A sites with partial modification levels of ∼50% were detected in defined amplicons, and this threshold can be lowered to ∼10% by combination with m6A immunoprecipitation. NOseq faithfully d…
May Measurement Month 2018: an analysis of blood pressure screening results from Spain.
2020
Este artículo se encuentra disponible en la siguiente URL: https://academic.oup.com/eurheartjsupp/article/22/Supplement_H/H119/5898732 En este artículo también participan: Fernando Martínez, Blanca Carreras, Bettina de Berardinis, Thomas Beaney, Anca Chis Ster, Neil R. Poulter, Xin Xia y Luis M. Ruilope. Elevated blood pressure (BP) is the single most important contributing risk factor to the global disease burden, leading to over 10 million deaths each year. In Spain, hypertension (HTN) affects around 20% of the adult population and remains the greatest attributable cause of cardiovascular mortality. May Measurement Month (MMM) is a worldwide initiative aimed at increasing awareness of HTN…
Theoretical adequacy, methodological quality and efficacy of online interventions targeting resilience: a systematic review and meta-analysis
2021
Abstract Background There is a growing interest in the promotion of mental health, and concepts as resilience are re-emerging and taking relevance. In addition, Information and Communication Technologies can provide potential benefits in the field of mental health, and the treatment of mental disorders in particular. This study aims to synthesize the evidence of internet-based resilience interventions, analyzing the theoretical adequacy, methodological quality and efficacy. Methods A systematic search was performed. The eligibility criteria stated for this article were: randomized controlled trials targeted at adults or adolescents and including any psychological intervention focussing on r…
Structural Covariance of Cortical Gyrification at Illness Onset in Treatment Resistance: A Longitudinal Study of First-Episode Psychoses
2021
AbstractTreatment resistance (TR) in patients with first-episode psychosis (FEP) is a major cause of disability and functional impairment, yet mechanisms underlying this severe disorder are poorly understood. As one view is that TR has neurodevelopmental roots, we investigated whether its emergence relates to disruptions in synchronized cortical maturation quantified using gyrification-based connectomes. Seventy patients with FEP evaluated at their first presentation to psychiatric services were followed up using clinical records for 4 years; of these, 17 (24.3%) met the definition of TR and 53 (75.7%) remained non-TR at 4 years. Structural MRI images were obtained within 5 weeks from first…
Nonlinear coupling is absent in acute myocardial patients but not healthy subjects.
2008
We investigated whether autonomic nervous system imbalance imposed by pharmacological blockades and associated with acute myocardial infarction (AMI) is manifested as modifications of the nonlinear interactions in heart rate variability signal using a statistically based bispectrum method. The statistically based bispectrum method is an ideal approach for identifying nonlinear couplings in a system and overcomes the previous limitation of determining in an ad hoc way the presence of such interactions. Using the improved bispectrum method, we found significant nonlinear interactions in healthy young subjects, which were abolished by the administration of atropine but were still present afte…
Association between irisin and homocysteine in euglycemic and diabetic subjects
2014
Abstract Objectives The aim of study was to explore whether a relationship exists between homocysteine and irisin in type 2 diabetes (T2D) patients—a population with a high risk of developing cardiovascular disease—and euglycemic controls. Design and methods 69 T2D patients and 75 control subjects (adjusted by body mass index (BMI)) were included in the study. Irisin and homocysteine concentrations and anthropometric and biochemical variables were determined. Results Levels of homocysteine were significantly higher (11.0 ± 3.0 vs 12.4 ± 4.2 μmol/l) and levels of irisin were lower (279 ± 58 vs 263 ± 38 ng/ml) in T2D patients. When both T2D and controls were considered, irisin was found to co…
A low reported energy intake is associated with metabolic syndrome.
2009
Background and aims: Metabolic syndrome (MS) may be associated with the presence of an energy sparing metabolism that predisposes to the excess accumulation of body fat. This study examined the relationship between reported energy intake and obesity in individuals with and without MS. Methods and results: Ninety consecutive non-diabetic obese subjects were divided into two groups based on the presence (MS+: n= 50) or absence (MS-: n= 40) of metabolic syndrome. The study design was cross-sectional. The three-day food record method was used to assess the subjects' usual energy intake and the Diet Readiness Test (DRT) was also administered. Compared to the MS- group, the MS+ group had a signif…