Results 61 to 70 of about 1,023,457 (221)
Hypothyroid Myopathy—A Rare Case from Paediatric Practice
ChildrenHypothyroid myopathy is uncommon in childhood. Severe hypothyroid myopathy observed in paediatric practice is a part of Kocher–Debré–Semelaigne syndrome (KDSS, OR-PHA:2349), a rare disorder characterised by muscular pseudohypertrophy and long-standing ...
Stanimira Elkina +3 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2015 Complex III deficiency due to a MT-CYB mutation has been reported in patients with myopathy. Here, we describe a 15-year-old boy who presented with metabolic acidosis, ketotic hypoglycemia and carnitine deficiency.
Mari Mori +5 more
doaj +1 more source
Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome
Annals of Neurology, EarlyView.Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca +24 more
wiley +1 more source
Heat Stress in Quail: Impacts on Health and Productivity, and Mitigation Strategies
Animal Research and One Health, EarlyView.Heat stress disrupts physiological homeostasis in quail, inducing oxidative stress, immune dysregulation, and metabolic imbalance, which impair growth, reproduction, product quality, and welfare. Integrating nutritional, environmental, and genetic–epigenetic strategies enhances thermotolerance, sustains productivity, and supports climate‐smart quail ...
T. A. Eletu +6 more
wiley +1 more source
Carnitine Deficiency Syndromes
Pediatric Neurology Briefs, 1990 Carnitine deficiency syndromes manifested as metabolic encephalopathy, lipid storage myopathy, or cardiomyopathy are reviewed from the Department of Pediatrics, Park Nicollet Medical Center, Minneapolis, MN.
J Gordon Millichap
doaj +1 more source
Arthritis &Rheumatology, EarlyView.Objective Tissue‐specific biomarkers that are reliable and associated with clinical manifestations of idiopathic inflammatory myopathy (IIM) are lacking. The blood circulation in individuals serves as a central conduit, allowing communication between tissues and facilitating clearance and recycling of tissue‐derived proteins.
Yue‐Bei Luo +23 more
wiley +1 more source
Autism Research, EarlyView.ABSTRACT Autism exhibits substantial phenotypic heterogeneity, yet age‐dependent variation in phenotypic profiles and onset timing remains poorly understood. We aimed to characterize stage‐specific phenotypes and temporal onset patterns of autism using longitudinal electronic health records (EHRs).
Fangyi Chen +9 more
wiley +1 more source
Cytoskeleton, EarlyView.ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen +3 more
wiley +1 more source
Value of serum muscle enzymes in the differential diagnosis of myopathies
Chinese Journal of Contemporary Neurology and Neurosurgery, 2019 Objective To explore the expression differences of serum muscle enzymes among different types of myopathies and viral hepatitis. Methods This study enrolled 578 patients with myopathies and 51 patients with viral hepatitis from January to September 2018.
Yuan-yuan MA +7 more
doaj
Free left ventricular wall rupter in a newborn. [PDF]
, 2015 Free left ventricular wall rupture is very rare but mostly fatal complication of acute myocardial infarction in the elderly. Without the presence of congenital heart disease, preceding cardiac surgery or an isolated ventricular diverticulum ...
Wagner, Bendicht Peter +9 more
core +1 more source