Search results for "47"

Allelic variants of IL1R1gene associate with severe hand osteoarthritis

2010

Background In search for genes predisposing to osteoarthritis (OA), several genome wide scans have provided evidence for linkage on 2q. In this study we targeted a 470 kb region on 2q11.2 presenting the locus with most evidence for linkage to severe OA of distal interphalangeal joints (DIP) in our genome wide scan families. Methods We genotyped 32 single nucleotide polymorphisms (SNPs) in this 470 kb region comprising six genes belonging to the interleukin 1 superfamily and monitored for association with individual SNPs and SNP haplotypes among severe familial hand OA cases (material extended from our previous linkage study; n = 134), unrelated end-stage bilateral primary knee OA cases (n =…

Kinetics and Topology of DNA Associated with Circulating Extracellular Vesicles Released during Exercise.

2021

AbstractAlthough it is widely accepted that cancer derived extracellular vesicles (EVs) carry DNA cargo, the association of cell-free circulating DNA (cfDNA) and EVs in plasma of healthy humans remains elusive. Using a physiological exercise model, where EVs and cfDNA are synchronously released, we aimed to characterize the kinetics and localization of DNA associated with EVs. EVs were separated from human plasma using size exclusion chromatography or immuno-affinity capture for CD9+, CD63+, and CD81+ EVs. DNA was quantified with an ultra-sensitive qPCR assay targeting repetitive LINE elements, with or without DNase digestion. This model shows that a minute part of circulating cell-free DNA…

Comparison of Electrocochleography and Video Head Impulse Test findings in Vestibular Migraine and Ménière Disease: A Preliminary Study

2020

OBJECTIVES: To evaluate electrophysiological findings among patients with vestibular migraine (VM) and to compare them with those of patients suffering from definite Ménière disease (MD) without migraine. MATERIALS and METHODS: Twenty-one consecutive patients suffering from VM were enrolled; all subjects were selected according to the criteria proposed by the Bàràny Society for Neuro-otology. Each patient underwent a careful otological and neurotological examination. After completing a questionnaire regarding migraine and vertigo complaints, they were assessed by audiometric testing, video head impulse test (vHIT), and elec-trocochleography (EcochG). Data were compared with those of 21 pati…

Papel prognóstico da margem de ressecção em cirurgia oncológica aberta de laringe: análise de sobrevida de uma coorte de 139 pacientes com carcinoma …

2019

Introduction: The treatment of laryngeal squamous cell carcinoma needs accurate risk stratification, in order to choose the most suitable therapy. The prognostic significance of resection margin is still highly debated, considering the contradictory results obtained in several studies regarding the survival rate of patients with a positive resection margin. Objective: To evaluate the prognostic role of resection margin in terms of survival and risk of recurrence of primary tumour through survival analysis. Methods: Between 2007 and 2014, 139 patients affected by laryngeal squamous cell carcinoma underwent partial or total laryngectomy and were followed for mean of 59.44 ± 28.65 months. Rese…

Risk of hypertension in women with polycystic ovary syndrome: a systematic review, meta-analysis and meta-regression

2019

Abstract Background A limited number of publications have assessed the prevalence of hypertension (HTN) in polycystic ovary syndrome (PCOS) patients with inconclusive results. Since in general populations the occurrence of hypertension is related to age per se, we investigated the prevalence (P) / relative risk (RR) of HTN in pooled patients with PCOS, vs control population among reproductive age women with PCOS, compared to menopause/aging patients. Methods PubMed, Scopus, ScienceDirect, web of science, and Google scholar were systematically searched for retrieving observational studies published from inception to April 2019 investigating the HTN in patients with PCOS. The primary outcome …

(Table 1) Age determination of sediment core SO147_106KL

2005

Here we present a high-resolution marine sediment record from the El Niño region off the coast of Peru spanning the last 20,000 years. Sea surface temperature, photosynthetic pigments, and a lithic proxy for El Niño flood events on the continent are used as paleo-El Niño-Southern Oscillation proxy data. The onset of stronger El Niño activity in Peru started around 17,000 calibrated years before the present, which is later than modeling experiments show but contemporaneous with the Heinrich event 1. Maximum El Niño activity occurred during the early and late Holocene, especially during the second and third millennium B.P. The recurrence period of very strong El Niño events is 60-80 years. El…

Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

2021

Abstract Background Biological aging estimators derived from DNA methylation data are heritable and correlate with morbidity and mortality. Consequently, identification of genetic and environmental contributors to the variation in these measures in populations has become a major goal in the field. Results Leveraging DNA methylation and SNP data from more than 40,000 individuals, we identify 137 genome-wide significant loci, of which 113 are novel, from genome-wide association study (GWAS) meta-analyses of four epigenetic clocks and epigenetic surrogate markers for granulocyte proportions and plasminogen activator inhibitor 1 levels, respectively. We find evidence for shared genetic loci ass…

Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelines

2021

Abstract Background Next Generation Sequencing (NGS) is the fundament of various studies, providing insights into questions from biology and medicine. Nevertheless, integrating data from different experimental backgrounds can introduce strong biases. In order to methodically investigate the magnitude of systematic errors in single nucleotide variant calls, we performed a cross-sectional observational study on a genomic cohort of 99 subjects each sequenced via (i) Illumina HiSeq X, (ii) Illumina HiSeq, and (iii) Complete Genomics and processed with the respective bioinformatic pipeline. We also repeated variant calling for the Illumina cohorts with GATK, which allowed us to investigate the e…

Recio Morales, Oscar: Alejandro O'Reilly, inspector general. Poder militar, familia y territorio en el reinado de Carlos III

2021

Supersymmetric structures for second order differential operators

2012

Necessary and sufficient conditions are obtained for a real semiclassical partial differential operator of order two to possess a supersymmetric structure. For the operator coming from a chain of oscillators, coupled to two heat baths, we show the non-existence of a smooth supersymmetric structure, for a suitable interaction potential, provided that the temperatures of the baths are different.