Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source
Upper-Body Neuromechanical Coordination Strategies During Fatiguing Sustained Dead Hangs in Climbers. [PDF]
Eur J Sport SciExel J +5 more
europepmc +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
A Wearable System for Remote Wrist Skin Temperature Monitoring to Assess Skin Thermal Response to Extreme Cold: A Case Study. [PDF]
Sensors (Basel)Janowicz J, Wiczyński G.
europepmc +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen +5 more
wiley +1 more source
Quantifying Upper Limb Movement During Naturalistic Driving: A Clinically Informed Ecological Approach. [PDF]
Sensors (Basel)Rankin CR +7 more
europepmc +1 more source
Equine models in translational medicine: A comparative approach to human health
Animal Models and Experimental Medicine, EarlyView.This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh +1 more
wiley +1 more source
Predicting poor wrist function recovery after internal fixation of distal radius fractures: A retrospective study based on multivariate analysis and machine learning models. [PDF]
Medicine (Baltimore)Deng LP, Li J, Ma T, Deng Y.
europepmc +1 more source
Daily‐Life, Sensor‐Derived Tremor Measures Are Sensitive to Progression in Early Parkinson's Disease
Annals of Neurology, EarlyView.Objective Sensitive outcome measures are critical for evaluating the efficacy of novel treatments for Parkinson's disease (PD). In this study, we assess the sensitivity to change of sensor‐derived daily‐life tremor measures over 2 years in unmedicated and medicated persons with early PD.
Nienke A. Timmermans +10 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract Scientists have been captivated by the ability to regenerate, focusing on uncovering the mechanisms of epimorphic regeneration and applying them to human medicine. The axolotl (Ambystoma mexicanum) has become the most intensively studied model in tetrapod regeneration research, particularly concerning limb regeneration.
Vivien Bothe, Nadia Fröbisch
wiley +1 more source