Search results for "Norm"
showing 10 items of 4018 documents
Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report
2018
Background: Apert syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with point mutations in FGFR2 gene.Case report: Here, we described a Apert syndrome case, who was referred to genetic consultation in our hospital with the symptom of craniosynostosis and syndactyly of the hands and feet. Craniosynostosis, midfacial retrusion, steep wide forehead, larger head circumference, marked depression of the nasal bridge, short and wide nose and proptosis could be found obviously, apart from these, ears were mildly low compared with normal children and there was no cleft lip and palate. Mutation was i…
Therapeutic Potential of AntagomiR-23b for Treating Myotonic Dystrophy
2020
Myotonic dystrophy type 1 (DM1) is a chronically debilitating, rare genetic disease that originates from an expansion of a noncoding CTG repeat in the dystrophia myotonica protein kinase (DMPK) gene. The expansion becomes pathogenic when DMPK transcripts contain 50 or more repetitions due to the sequestration of the muscleblind-like (MBNL) family of proteins. Depletion of MBNLs causes alterations in splicing patterns in transcripts that contribute to clinical symptoms such as myotonia and muscle weakness and wasting. We previously found that microRNA (miR)-23b directly regulates MBNL1 in DM1 myoblasts and mice and that antisense technology (“antagomiRs”) blocking this microRNA (miRNA) boost…
The MID1 protein is a central player during development and in disease.
2015
Loss-of-function mutations in the MID1 gene cause a rare monogenic disorder, Opitz BBB/G syndrome (OS), which is characterized by malformations of the ventral midline. The MID1 gene encodes the MID1 protein, which assembles a large microtubule-associated protein complex. Intensive research over the past several years has shed light on the function of the MID1 protein as a ubiquitin ligase and regulator of mTOR signalling and translational activator. As a central player in the cell MID1 has been implicated in the pathogenesis of various other disorders in addition to OS including cancer and neurodegenerative diseases. Influencing the activity of the MID1 protein complex is a promising new st…
Mass, phylogeny, and temperature are sufficient to explain differences in metabolic scaling across mammalian orders?
2016
Abstract Whether basal metabolic rate‐body mass scaling relationships have a single exponent is highly discussed, and also the correct statistical model to establish relationships. Here, we aimed (1) to identify statistically best scaling models for 17 mammalian orders, Marsupialia, Eutheria and all mammals, and (2) thereby to prove whether correcting for differences in species’ body temperature and their shared evolutionary history improves models and their biological interpretability. We used the large dataset from Sieg et al. (The American Naturalist 174, 2009, 720) providing species’ body mass (BM), basal metabolic rate (BMR) and body temperature (T). We applied different statistical ap…
Normative vs. patient-specific brain connectivity in Deep Brain Stimulation
2020
AbstractBrain connectivity profiles seeding from deep brain stimulation (DBS) electrodes have emerged as informative tools to estimate outcome variability across DBS patients. Given the limitations of acquiring and processing patient-specific diffusion-weighted imaging data, most studies have employed normative atlases of the human connectome. To date, it remains unclear whether patient-specific connectivity information would strengthen the accuracy of such analyses. Here, we compared similarities and differences between patient-specific, disease-matched and normative structural connectivity data and retrospective estimation of clinical improvement that they may generate.Data from 33 patien…
Normal values for fundus perimetry with the MAIA microperimeter and short-term repeatability evaluation
2016
National audience; Purpose To assess retinal sensitivity by means of microperimetry and to evaluate the intersession fluctuation using the MAIA microperimeter in healthy volunteers. Methods Prospective, monocentre study. Fifty‐six healthy volunteers (age range, 20–80 years), underwent an automatic, full‐threshold microperimetry of the central field (custom grid, area of 10° in diameter, 37 stimulated points), with the MAIA microperimeter (CenterVue, Padova, Italy). A subgroup of 24 subjects was retested after 1 h (test 2) and 1 week (test 3) to determine the repeatability of the technique. A subgroup of 22 subjects was also tested on the OPKO microperimeter (Optos, Dunfermline, Scotland) (a…
Le bien-être alimentaire du quotidien à l’institution hospitalière : de nouveaux enjeux normatifs.
2020
Cet article interroge la façon dont les questions sanitaires jouent sur les normes en matière de santé. Dans une perspective diachronique et culturellement située, l’objectif de l’article sera, dans un premier temps, de montrer que le bien-être est une valeur évolutive aux prismes des attentes sociétales. D’un bien-être aux contours fermés et délimités, les enjeux sociaux et la forte médiatisation de la nutrition en font une valeur qui évolue, dont la qualification reste toujours difficile à saisir. Dans un second temps, l’article propose la construction d’un outil de mesure du bien-être alimentaire en contexte hospitalier afin d’intégrer des éléments subjectifs et actuels autour des attent…
Health-related messages about physical activity promotion: an analysis of photographs on social networking sites of universities
2016
ABSTRACTThe main aim of this study was to examine how different physical activity domains are represented on the official social media sites of Spanish universities, through a content analysis of the photographs. Our results show that the representation of different physical activity domains is not balanced. While the analysed images do promote a message of gender equality in sedentary and leisure time physical activity behaviour, pictures illustrating active commuting and disabled groups were under-represented. We conclude that Internet-based physical activity promotion in university settings must to be guided by the principles of ‘health-promoting universities’ in the sense of promoting a…
La représentation des causes de l'état de santé par les infirmiers et les points de vue envisagés des patients et des aidants naturels : une approche…
2008
This study examines the representation of the determining factors of patients' states of health in therapeutic care situations. We describe the average representation of experienced hospital nurses (n=44) and the differences which they consider to exist between their own and their patients' points of view. Taking as our starting point the purpose of the care provided and the asymmetry of the carer/patient relationship, we hypothesize, on the one hand, that nurses will have a representation of their patients' state of health which is based on the care to be provided, with the factors determining the state of health being necessarily perceived as having a general impact on patients' lives whi…
Spanish Validation of the Polymorphous Prejudice Scale in a Sample of University Students
2016
ABSTRACTThe shortened version of the Polymorphous Prejudice Scale (PPS) analyzes new manifestations of prejudice toward gay men and lesbian women. Specifically, this instrument consists of 16 items distributed in four subscales: values gay progress, positive beliefs about gay men, positive beliefs about lesbian women, and resistance to heteronormative expectations. The aim of the current study is to add new evidence about the reliability and validity of the scale. The scale is administrated to 348 heterosexual university students from Spain with a mean age of 22.62 years (SD = 7.63). Reliability and factorial validity estimates are presented. A four-factor structure is supported using confi…