Search results for "Éticas"
showing 10 items of 58 documents
Case report : partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chediak-Higashi …
2021
Síndrome de Chédiak-Higashi; LYST; Disomia uniparental Síndrome de Chédiak-Higashi; LYST; Disomía uniparental Chédiak-Higashi syndrome; LYST; Uniparental disomy Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecul…
Frequency and prognostic impact of ALK amplifications and mutations in the European Neuroblastoma Study Group (SIOPEN) high-risk neuroblastoma trial …
2021
Purpose: In neuroblastoma (NB), the ALK receptor tyrosine kinase can be constitutively activated through activating point mutations or genomic amplification. We studied ALK genetic alterations in high-risk (HR) patients on the HR-NBL1/SIOPEN trial to determine their frequency, correlation with clinical parameters, and prognostic impact. Materials and methods: Diagnostic tumor samples were available from 1,092 HR-NBL1/SIOPEN patients to determine ALK amplification status (n = 330), ALK mutational profile (n = 191), or both (n = 571). Results: Genomic ALK amplification (ALKa) was detected in 4.5% of cases (41 out of 901), all except one with MYCN amplification (MNA). ALKa was associated with …
Genetic association study of childhood aggression across raters, instruments, and age
2021
AbstractChildhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap. We also meta-analyzed within subsets of the data, i.e., within rater, instrument and age. SNP-heritability for the overall meta-analysis (AGGoverall) was 3.31% (SE = 0.0038). We found no genome-wide significant SNPs for AGGoverall. The gene-based analysis returned three sign…
Quality of dietary fat intake and body weight and obesity in a Mediterranean population: Secondary analyses within the PREDIMED trial
2018
A moderately high-fat Mediterranean diet does not promote weight gain. This study aimed to investigate the association between dietary intake of specific types of fat and obesity and body weight. A prospective cohort study was performed using data of 6942 participants in the PREDIMED trial, with yearly repeated validated food-frequency questionnaires, and anthropometric outcomes (median follow-up: 4.8 years). The effects of replacing dietary fat subtypes for one another, proteins or carbohydrates were estimated using generalized estimating equations substitution models. Replacement of 5% energy from saturated fatty acids (SFA) with monounsaturated fatty acids (MUFA) or polyunsaturated fatty…
Papel de las leguminosas en la alimentación actual
2010
5 páginas, 2 figuras, 2 tablas.-- et al.
Identificación y caracterización de precursores mesodérmicos con capacidad hematopoyética en el tejido adiposo humano
2013
La fracción vascular estromal (FVE) del tejido adiposo humano contiene precursores mesodérmicos con capacidad de generar in vitro unidades formadoras de colonias hematopoyéticas (CFUs) y colonias mixtas de células hematopoyéticas y endoteliales. El trabajo realizado en esta tesis doctoral ha tenido como objetivo el estudio de estos progenitores hematopoyéticos. Para ello, se aislaron las diferentes subpoblaciones celulares que componen la FVE y tras su caracterización inmunofenotípica, se determinó su capacidad formadora de CFUs y la expresión de los principales factores de transcripción implicados en la hematopoyesis. Para estimar la ontogenia de los progenitores hematopoyéticos contenidos…
Canagliflozin and Renal Events in Diabetes with Established Nephropathy Clinical Evaluation and Study of Diabetic Nephropathy with Atrasentan : what …
2019
Albuminuria; Atrasentan; Canagliflozin Albuminuria; Atrasentan; Canagliflozina Albuminúria; Atrasentan; Canagliflozina In April 2019, two major Phase 3 randomized clinical trials were published that assessed primary renal outcomes in diabetic kidney disease (DKD) in type 2 diabetes mellitus (T2DM). The Canagliflozin and Renal Events in Diabetes with Established Nephropathy Clinical Evaluation (CREDENCE) tested an already available antidiabetic drug, canagliflozin, and the Study of Diabetic Nephropathy with Atrasentan (SONAR) tested a novel molecule, the endothelin-1 receptor blocker atrasentan, both on top of renin-angiotensin system blockade. Both trials demonstrated significant nephroprot…
Filosofia moral i ètiques aplicades I: part teòrica
2016
El document forma part dels materials docents programats mitjançant l'ajut del Servei de Política Lingüística de la Universitat de València. L'assignatura obligatòria "Filosofia Moral i Ètiques Aplicades I" està concebuda per a desenvolupar continguts temàtics amb els quals l'estudiant obté un marc de referència d'interès per al desenvolupament del conjunt de competències generals del títol de Graduat/da en Filosofia. El temari presenta diferents dimensions de l'ètica, els seus mètodes, les classificacions i els models de fonamentació teòrica més rellevants, els trets d'una societat pluralista i democràtica, l'ètica cívica que la fa possible i diferents ètiques aplicades que sorgeixen de el…
Cuidar los cimientos: una intervención para impactar el carácter organizacional
2015
Hijas de su tiempo, las empresas protagonizan y engendran problemas éticos históricamente inéditos cuya profundidad y dimensión no siempre alcanzan a apreciar y cuyos retos no siempre resolver satisfactoriamente. El presente trabajo desarrolla una metodología, basada en la ética del discurso y en las éticas dialógicas para hacer frente a dicho reto. Por una parte, describe un taller diseñado para la elaboración de códigos de ética y expone sus resultados en empresas concretas trasnacionales y latinoamericanas. Además, convencido de que en las fases previas y posteriores al código como tal se encuentra la clave de su implantación exitosa, desarrolla metodología y reflexiones en torno a las m…
Influence of the structural components of artificial turf systems on impact attenuation in amateur football players
2019
AbstractThe purpose of this research was to evaluate the influence of the structural components of different 3rd generation artificial turf football field systems on the biomechanical response of impact attenuation in amateur football players. A total of 12 amateur football players (24.3 ± 3.7 years, 73.5 ± 5.5 kg, 178.3 ± 4.1 cm and 13.7 ± 4.3 years of sport experience) were evaluated on three third generation artificial turf systems (ATS) with different structural components. ATS were composed of asphalt sub-base and 45 mm of fibre height with (ATS1) and without (ATS2) elastic layer or compacted granular sub-base, 60 mm of fibre height without elastic layer (ATS3). Two triaxial accelerome…