Search results for "Adolescent"
showing 10 items of 6718 documents
Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before an…
2020
Rossella Parini,1,2 Guillem Pintos-Morell,3 Julia B Hennermann,4 Ting-Rong Hsu,5 Nesrin Karabul,6 Vasiliki Kalampoki,7 Andrey Gurevich,7 Uma Ramaswami8 On behalf of the FOS Study Group1Rare Metabolic Diseases Unit, MBBM Foundation, San Gerardo Hospital, Reference Centre for Hereditary Metabolic Disorders (MetabERN), Monza, Italy; 2TIGET Institute, IRCCS San Raffaele Hospital, Milan, Italy; 3Division of Rare Diseases, Reference Centre for Hereditary Metabolic Disorders (MetabERN), University Hospital Vall d’Hebron, Autonomous University of Barcelona, Barcelona, Spain; 4Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center, Mainz, Germany; 5Dep…
THE VITAMIN D RECEPTOR TAQ I POLYMORPHISM IS ASSOCIATED WITH REDUCED VDR AND INCREASED PDIA3 PROTEIN LEVELS IN HUMAN INTESTINAL FIBROBLASTS
2020
The synonymous single nucleotide polymorphism (SNP) rs731236, located in the vitamin D receptor (VDR) gene (Taq I) has been associated with both decreased levels of the protein in peripheral blood mononuclear cells and a fibrosis-related complication in Crohn´s disease (CD). Interactions between VDR and a protein-disulfide isomerase-associated 3 (PDIA3) in the regulation of extracellular matrix have been reported and we aim to analyze the relevance of the VDR genotypes and the effects of Vitamin D (VD) in the expression of VDR, PDIA3 and proliferation of intestinal fibroblasts. Human intestinal fibroblasts were isolated from the non-affected surgical resections of colorectal patients and cl…
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy
2020
Abstract Background Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturbances. Six main breakpoint (BP) subregions (BP1‐BP6) are mapped to the 15q13 region and three further embedded BP regions (BP3‐BP5). The deletion at BP4‐BP5 is the rearrangement most frequently observed compared to other known deletions in BP3‐BP5 and BP3‐BP4 regions. Deletions of each of these three regions have previously been implicated in a variable range of clinical phenotypes, including minor dysmorphism, developmental delay/intellectual disability, epilepsy, autism spectrum disorders, behavioral disturbances, and speec…
Impact of hypertonic saline nebulisation combined with oscillatory positive expiratory pressure on sputum expectoration and related symptoms in cysti…
2018
Abstract Objective To evaluate the impact of combining nebulised hyaluronic acid plus hypertonic saline (HA + HS) with oscillatory positive expiratory pressure (oscillatory-PEP) on sputum expectoration and related symptoms in adults with cystic fibrosis (CF). Design Randomised crossover trial. Setting Seven centres. Participants Twenty-two outpatients with CF. Interventions Usual care (HA + HS followed by autogenic drainage) and combined therapy (HA + HS with oscillatory-PEP followed by autogenic drainage]. Each treatment was performed for 5 days. Main outcome measures Sputum expectoration was measured during the nebulisation period (primary outcome), during autogenic drainage and for 24 ho…
Age-related variation in mobility independence among wheelchair users with spinal cord injury: A cross-sectional study
2016
To evaluate age-related variation in mobility independence among community-living wheelchair users with spinal cord injury (SCI).Community Survey (2011-2013) as part of the Swiss Spinal Cord Injury Cohort Study.Community.Individuals aged 16 years or older with traumatic or non-traumatic SCI permanently residing in Switzerland and using a wheelchair for moving around moderate distances (10-100 m).Not applicable.Mobility-related items of the Spinal Cord Independence Measure-Self Report were matched to the three principal domains "changing basic body position," "transferring oneself" and "moving around." Binary outcomes ("independence" vs. "no independence") were created for every domain and a…
Similarities and differences between eating disorders and obese patients in a virtual environment for normalizing eating patterns.
2016
Virtual reality has demonstrated promising results in the treatment of eating disorders (ED); however, few studies have examined its usefulness in treating obesity. The aim of this study was to compare ED and obese patients on their reality judgment of a virtual environment (VE) designed to normalize their eating pattern. A second objective was to study which variables predicted the reality of the experience of eating a virtual forbidden-fattening food. ED patients, obese patients, and a non-clinical group (N = 62) experienced a non-immersive VE, and then completed reality judgment and presence measures. All participants rated the VE with similar scores for quality, interaction, engagement,…
Decision-Making Skills Moderate the Relationship between Psychological and Physical Pain with Suicidal Behavior in Depressed Patients
2019
International audience
Identification and location tasks rely on different mental processes: a diffusion model account of validity effects in spatial cueing paradigms with …
2018
Spatial cueing paradigms are popular tools to assess human attention to emotional stimuli, but different variants of these paradigms differ in what participants' primary task is. In one variant, participants indicate the location of the target (location task), whereas in the other they indicate the shape of the target (identification task). In the present paper we test the idea that although these two variants produce seemingly comparable cue validity effects on response times, they rest on different underlying processes. Across four studies (total N = 397; two in the supplement) using both variants and manipulating the motivational relevance of cue content, diffusion model analyses reveale…
Optimal Cut Points for Remission and Response for the German Version of the Social Phobia Anxiety Inventory (SPAI).
2018
The German version of the Social Phobia and Anxiety Inventory (SPAI-G) is a validated measure for the detection of social anxiety disorder (SAD). The aim of the present study was to develop optimal cut points (OC) for remission and response to treatment for the SPAI-G.We used Receiver Operating Characteristic methods and bootstrapping to analyse the data of 359 patients after psychotherapeutic treatment. OCs where defined as the cut points with the highest sensitivity and specificity after bootstrapping.For remission, an OC of 2.79 was found, and for response, a change in score from pre- to posttreatment by 11% yielded best results.The OC we identified for remissionmay be used to improve th…
Levels and variables associated with psychological distress during confinement due to the coronavirus pandemic in a community sample of Spanish adults
2020
Due to the COVID-19 pandemic's consequences and the state of alarm, literature has shown that people worldwide have experienced severe stressors that have been associated with increased prevalence of emotional distress. In this study, we explored psychological distress (depression, anxiety, and somatization symptoms) using an online survey platform in a sample of 1,781 Spanish adults during the confinement due to COVID-19, relationships between distress and sleep problems, affect, pain, sleep, emotional regulation, gender, type of housing, history of psychopathology, and living alone during the confinement, and differences depending on demographic and psychological variables. Results showed…