Search results for "2700"
showing 10 items of 68 documents
Las normas ISO/IEC como mecanismos de responsabilidad proactiva en el Reglamento General de Protección de Datos
2021
El mercado de la certificación ha experimentado un auge sin precedentes tras la entrada en vigor y ulterior aplicación del RGPD. Ello obliga a poner de relieve la relevancia de estos mecanismos como elementos claves en la prevención de potenciales violaciones de la seguridad de los datos personales. En el presente trabajo examinamos cómo la naturaleza técnica de estos instrumentos ha cedido hacia su corregulación a los efectos de garantizar una adaptación efi ciente a los continuos cambios de una gran tipología de productos, servicios o sistemas. Pretende proporcionarse una panorámica holística sobre la práctica totalidad de estándares que afectan a las dimensiones de privacidad y protecció…
Cognate HLA absence in trans diminishes human NK cell education
2016
NK cells are innate lymphocytes with protective functions against viral infections and tumor formation. Human NK cells carry inhibitory killer cell Ig-like receptors (KIRs), which recognize distinct HLAs. NK cells with KIRs for self-HLA molecules acquire superior cytotoxicity against HLA– tumor cells during education for improved missing-self recognition. Here, we reconstituted mice with human hematopoietic cells from donors with homozygous KIR ligands or with a mix of hematopoietic cells from these homozygous donors, allowing assessment of the resulting KIR repertoire and NK cell education. We found that co-reconstitution with 2 KIR ligand–mismatched compartments did not alter the frequenc…
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.
2017
Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in modern molecular diagnosis. To improve our understanding and interpretation of such variants, we used high-resolution three-dimensional chromosomal structural data and transcriptional regulatory information to predict position effects and their association with pathogenic phenotypes in 17 subjects with apparently balanced chromosomal abnormalities. We found that the rearrangements predict disruption of long-range chromatin interactions between several enhancers and genes whose annotated clinical features are strongly …
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated acti…
2021
International audience; Purpose: A few de novo missense variants in the cytoplasmic FMRP-interacting protein 2 (CYFIP2) gene have recently been described as a novel cause of severe intellectual disability, seizures, and hypotonia in 18 individuals, with p.Arg87 substitutions in the majority.Methods: We assembled data from 19 newly identified and all 18 previously published individuals with CYFIP2 variants. By structural modeling and investigation of WAVE-regulatory complex (WRC)-mediated actin polymerization in six patient fibroblast lines we assessed the impact of CYFIP2 variants on the WRC.Results: Sixteen of 19 individuals harbor two previously described and 11 novel (likely) disease-ass…
Current concepts in the prevention of pathogen transmission via blood/plasma-derived products for bleeding disorders
2015
The pathogen safety of blood/plasma-derived products has historically been a subject of significant concern to the medical community, Measures such as donor selection and blood screening have contributed to increase the safety of these products, but pathogen transmission does still occur. Reasons for this include lack of sensitivity/specificity of current screening methods, lack of reliable screening tests for some pathogens (e.g. prions) and the fact that many potentially harmful infectious agents are not routinely screened for. Methods for the purification/inactivation of blood/plasma-derived products have been developed in order to further reduce the residual risk, but low concentrations…
Changes of coagulation parameters during high altitude expedition
2010
Data on changes of haemostatic parameters at altitudes above 5000 m are very limited. So far it is unknown, whether altered coagulation could contribute to the development of acute mountain sickness.Thirty four healthy mountaineers were randomised to two acclimatisation protocols and undertook an expedition on Muztagh Ata (7549 m) in China. Tests were performed at five altitudes up to 6865 m. Haemostatic parameters, such as PT, aPTT, D-Dimer, APC-Resistance (APCR), von Willebrand Factor activity (RCo), ADAMTS-13C-Natriuretic Peptide (CNP) were assessed together with Lake Louise AMS score.D-Dimer significantly increased with increasing altitude (median 0.62 to 0.81 mcg/L, p0.0001). During as…
Analysis of performance and age of the fastest 100-mile ultra-marathoners worldwide
2013
OBJECTIVES: The performance and age of peak ultra-endurance performance have been investigated in single races and single race series but not using worldwide participation data. The purpose of this study was to examine the changes in running performance and the age of peak running performance of the best 100-mile ultra-marathoners worldwide. METHOD: The race times and ages of the annual ten fastest women and men were analyzed among a total of 35,956 finishes (6,862 for women and 29,094 for men) competing between 1998 and 2011 in 100-mile ultra-marathons. RESULTS: The annual top ten performances improved by 13.7% from 1,132±61.8 min in 1998 to 977.6±77.1 min in 2011 for women and b…
Increase in finishers and improvement of performance of masters runners in the Marathon des Sables
2013
Saskia Carolin Jampen,1 Beat Knechtle,1,2 Christoph Alexander Rüst,1 Romuald Lepers,3 Thomas Rosemann11Institute of General Practice and for Health Services Research, University of Zurich, Zurich, Switzerland; 2Gesundheitszentrum St Gallen, St Gallen, Switzerland; 3INSERM U1093, Faculty of Sport Sciences, University of Burgundy, Dijon, FranceAim: The aim of the study was to examine finisher and performance trends of ultrarunners in the Marathon des Sables, the world's largest multistage ultramarathon.Methods: The age and running speed was analyzed for 6945 finishes of 909 women and 6036 men between 2003 and 2012 at the Marathon des Sables covering about 240 km in the Morocc…
Sex differences in 24-hour ultra-marathon performance - A retrospective data analysis from 1977 to 2012
2013
OBJECTIVES: This study examined the changes in running performance and the sex differences between women and men in 24-hour ultra-marathons held worldwide from 1977 to 2012. METHOD: Changes in running speed and ages of the fastest 24-hour ultra-marathoners were determined using single- and multi-level regression analyses. RESULTS: From 1977 to 2012, the sex differences in 24-hour ultra-marathon performance were 4.6±0.5% for all women and men, 13.3% for the annual fastest finishers, 12.9±0.8% for the top 10 and 12.2±0.4% for the top 100 finishers. Over time, the sex differences decreased for the annual fastest finishers to 17%, for the annual 10 fastest finishers to 11.3±2.2% and for the ann…