10 research outputs found
Futuros filólogos (2): competencias digitales en tratamiento de textos y enseñanza de idiomas
Memoria ID-0098. Ayudas de la Universidad de Salamanca para la innovaciĂłn docente, curso 2014-2015
EvaluaciĂłn de competencias en lengua francesa conforme al Marco ComĂșn Europeo de Referencia para las lenguas (IIÂȘ fase)
Memoria ID12-0229. Ayudas de la Universidad de Salamanca para la innovaciĂłn docente, curso 2012-2013
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425 and PI19/00321), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), European Regional Development Fund (FEDER), the Organización Nacional de Ciegos Españoles (ONCE), Fundación Ramón Areces, Fundación Conchita Råbago and the University Chair UAM-IIS-FJD of Genomic Medicine. Irene Perea-Romero is supported by a PhD fellowship from the predoctoral Program from ISCIII (FI17/00192). Ionut F. Iancu is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017-AI/BMD7256). Marta del Pozo-Valero is supported by a PhD grant from the Fundación Conchita Råbago. Berta Almoguera is supported by a Juan Rodes program from ISCIII (JR17/00020). Pablo Minguez is supported by a Miguel Servet program from ISCIII (CP16/00116). Marta Corton is supported by a Miguel Servet program from ISCIII (CPII17/00006). The funders played no role in study design, data collection, data analysis, manuscript preparation and/or publication decisions
Mortality and pulmonary complications in patients undergoing surgery with perioperative SARS-CoV-2 infection: an international cohort study
Background: The impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) on postoperative recovery needs to be understood to inform clinical decision making during and after the COVID-19 pandemic. This study reports 30-day mortality and pulmonary complication rates in patients with perioperative SARS-CoV-2 infection. Methods: This international, multicentre, cohort study at 235 hospitals in 24 countries included all patients undergoing surgery who had SARS-CoV-2 infection confirmed within 7 days before or 30 days after surgery. The primary outcome measure was 30-day postoperative mortality and was assessed in all enrolled patients. The main secondary outcome measure was pulmonary complications, defined as pneumonia, acute respiratory distress syndrome, or unexpected postoperative ventilation. Findings: This analysis includes 1128 patients who had surgery between Jan 1 and March 31, 2020, of whom 835 (74·0%) had emergency surgery and 280 (24·8%) had elective surgery. SARS-CoV-2 infection was confirmed preoperatively in 294 (26·1%) patients. 30-day mortality was 23·8% (268 of 1128). Pulmonary complications occurred in 577 (51·2%) of 1128 patients; 30-day mortality in these patients was 38·0% (219 of 577), accounting for 81·7% (219 of 268) of all deaths. In adjusted analyses, 30-day mortality was associated with male sex (odds ratio 1·75 [95% CI 1·28â2·40], p\textless0·0001), age 70 years or older versus younger than 70 years (2·30 [1·65â3·22], p\textless0·0001), American Society of Anesthesiologists grades 3â5 versus grades 1â2 (2·35 [1·57â3·53], p\textless0·0001), malignant versus benign or obstetric diagnosis (1·55 [1·01â2·39], p=0·046), emergency versus elective surgery (1·67 [1·06â2·63], p=0·026), and major versus minor surgery (1·52 [1·01â2·31], p=0·047). Interpretation: Postoperative pulmonary complications occur in half of patients with perioperative SARS-CoV-2 infection and are associated with high mortality. Thresholds for surgery during the COVID-19 pandemic should be higher than during normal practice, particularly in men aged 70 years and older. Consideration should be given for postponing non-urgent procedures and promoting non-operative treatment to delay or avoid the need for surgery. Funding: National Institute for Health Research (NIHR), Association of Coloproctology of Great Britain and Ireland, Bowel and Cancer Research, Bowel Disease Research Foundation, Association of Upper Gastrointestinal Surgeons, British Association of Surgical Oncology, British Gynaecological Cancer Society, European Society of Coloproctology, NIHR Academy, Sarcoma UK, Vascular Society for Great Britain and Ireland, and Yorkshire Cancer Research
Atlas of radiological Anatomy correlated with sectional Anatomy images. Thorax and Abdomen.
Es una herramienta de autoaprendizaje de las regiones anatĂłmicas del tĂłrax y el abdomen, bilingĂŒe (español/inglĂ©s), dirigida a los estudiantes y profesionales de ciencias de la salud. Consiste en una serie de imĂĄgenes de resonancias magnĂ©ticas nucleares de tĂłrax y abdomen, en las que aparecen marcadas, con un nĂșmero, diferentes estructuras anatĂłmicas para que el alumno piense y deduzca de quĂ© estructura se trata. Las respuestas vienen dadas a continuaciĂłn para que el alumno pueda proceder a su autoevaluaciĂłn de forma inmediata, reforzando su aprendizaje.
Esta herramienta de autoaprendizaje no es solo Ăștil para que los alumnos aprendan y puedan preparar mejor las prĂĄcticas de anatomĂa y sus correspondientes exĂĄmenes prĂĄcticos, sino que tambiĂ©n ayuda a los profesionales de las ciencias de la salud a adquirir los conocimientos anatĂłmicos necesarios para poder interpretar, de forma correcta las RMN, tĂ©cnica que cada vez tiene un mayor uso en la prĂĄctica clĂnica diaria.It's a tool of self-learning of the anatomical regions of the thorax and abdomen, bilingual (Spanish/English) aimed students and health sciences professionals. It consists of a series of images of nuclear magnetic resonance imaging of thorax and abdomen which are marked with a number, different anatomical structures to make the student think and deduct from what structure is. Finally, the answers are given below so that the student can proceed to its self-assessment, reinforcing their learning.Depto. de AnatomĂa y EmbriologĂaFac. de MedicinaFALSEUCMsubmitte
Traduzindo o debate: o uso da categoria gĂȘnero na pesquisa histĂłrica Translating the debate: the usage of gender category in the historical research
Neste artigo, estĂŁo sendo historicizadas categorias de anĂĄlise como: "mulher", "mulheres", "gĂȘnero" e "sexo", atravĂ©s de um diĂĄlogo com a histĂłria dos movimentos sociais de mulheres, de feministas, de gays e de lĂ©sbicas. Embora sejam categorias usadas de forma interdisciplinar, neste artigo focaliza-se principalmente o uso destas por historiadoras e historiadores, fazendo uma revisĂŁo do que se tem publicado no Brasil sobre o assunto. Dialoga-se com as teorias e busca-se, de forma didĂĄtica, apresentar para estudantes e pesquisadoras/es um panorama de como estas categorias de anĂĄlise tĂȘm sido constituĂdas e questionadas.<br>In the present article categories of analysis such as "woman", "women", "gender" and "sex" are historicized through a dialogue with the history of the women, feminists, gays and lesbians social movements. Although they are categories used in an interdisciplinary mode, we chiefly focus on their employment by historians through a review of what has been published on the matter. The theories are discussed and an overview on how such categories of analysis have been constituted and questioned is presented, in an instructive way, to students and researchers
Perspectives on ENCODE
The Encylopedia of DNA Elements (ENCODE) Project launched in 2003 with the long-term goal of developing a comprehensive map of functional elements in the human genome. These included genes, biochemical regions associated with gene regulation (for example, transcription factor binding sites, open chromatin, and histone marks) and transcript isoforms. The marks serve as sites for candidate cis-regulatory elements (cCREs) that may serve functional roles in regulating gene expression1. The project has been extended to model organisms, particularly the mouse. In the third phase of ENCODE, nearly a million and more than 300,000 cCRE annotations have been generated for human and mouse, respectively, and these have provided a valuable resource for the scientific community.11Nsciescopu
Expanded encyclopaedias of DNA elements in the human and mouse genomes
AbstractThe human and mouse genomes contain instructions that specify RNAs and proteins and govern the timing, magnitude, and cellular context of their production. To better delineate these elements, phase III of the Encyclopedia of DNA Elements (ENCODE) Project has expanded analysis of the cell and tissue repertoires of RNA transcription, chromatin structure and modification, DNA methylation, chromatin looping, and occupancy by transcription factors and RNA-binding proteins. Here we summarize these efforts, which have produced 5,992 new experimental datasets, including systematic determinations across mouse fetal development. All data are available through the ENCODE data portal (https://www.encodeproject.org), including phase II ENCODE1 and Roadmap Epigenomics2 data. We have developed a registry of 926,535 human and 339,815 mouse candidate cis-regulatory elements, covering 7.9 and 3.4% of their respective genomes, by integrating selected datatypes associated with gene regulation, and constructed a web-based server (SCREEN; http://screen.encodeproject.org) to provide flexible, user-defined access to this resource. Collectively, the ENCODE data and registry provide an expansive resource for the scientific community to build a better understanding of the organization and function of the human and mouse genomes.11Nsciescopu