Results 41 to 50 of about 450,958 (303)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Teaching psychomotor skills online: Exploring the implications of novel coronavirus on health professions education [PDF]
, 2020 CONTEXT: The safe and effective application of psychomotor skills in the clinical environment is a central pillar of the health professions. The current global coronavirus pandemic has significantly impacted health professions education (HPE) and has ...
Smith, Tony +7 more
core +1 more source
Arthritis Care &Research, EarlyView.Objective Somatic items used in depression assessments can potentially overlap with symptoms related to physical illness, including systemic sclerosis (SSc). No studies have looked at whether somatic depression items may be influenced by diffuse versus limited SSc disease subtypes, which are associated with varying degrees of symptom presentation.
Sophie Hu +110 more
wiley +1 more source
Remote Control of Hand Actuators via Glove Sensors for Medical Care Applications
Advanced Robotics Research, EarlyView.This study presents a novel textile‐based sensory glove–actuator system for remote medical care, explored through finite element simulations. By integrating capacitive sensors, pneumatic actuators, and machine learning, the system models real‐time hand movement control.
Bahman Taherkhani, Mahdi Bodaghi
wiley +1 more source
, 2019 AIM We want to evaluate the relationship of self-assessed experience and proficiency, manual dexterity and visual-spatial ability with surgical performance.
Hämmerle, Christoph H F +2 more
core +1 more source
Effects of caffeine and anxiety level on psychomotor performance
, 2017 The study investigated the effects of caffeine and anxiety level on psychomotor performance. Sixty-eight (68) volunteer male and female students who were randomly selected from different academic faculties at the University of Lagos participated in this ...
Idowu Michael Ogunkuade
core +2 more sources
Inhibitory Decay and Supercritical Brain Dynamics During Sleep Deprivation
Advanced Science, EarlyView.Sleep deprivation progressively shifts human brain dynamics from near‐critical toward supercritical states, as revealed by neuronal avalanche analysis of resting‐state fMRI. These changes track subjective sleep pressure rather than vigilance lapses and show marked network heterogeneity. A circuit model suggests that reduced inhibitory efficacy provides
Dai Zhang +6 more
wiley +1 more source
Relationship between Sprint, lower limb power, and change of direction speed in adolescents
Motriz: Revista de Educacao Fisica, 2021 Aim: The purpose of this study is to verify the association between sprint, lower limb power, and change of direction speed in schoolchildren. Method: This is a cross-sectional school-based study with a probabilistic sample (n=1455) of adolescents aged ...
Júlio Brugnara Mello +3 more
doaj +1 more source
Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle +10 more
wiley +1 more source