Results 61 to 70 of about 419,034 (232)

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Case report: perioperative management of caesarean section for a parturient with mitochondrial myopathy

BMC Anesthesiology, 2017
Background Mitochondrial myopathies represent a group of disorders caused by mitochondrial defects that disrupt energy production. Most patients have issues from infancy to early childhood.
Qiang Zheng, Penghui Wei, Jinfeng Zhou, Haipeng Zhou, Fucheng Ji, Wenxi Tang, Jianjun Li   +6 more
doaj   +1 more source

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

Developmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard, Lauren Clarissa Tang, Beatrix Ueberheide, Lisa A. Taneyhill   +3 more
wiley   +1 more source

Role of selenium in the pathophysiology of cardiorenal anaemia syndrome

ESC Heart Failure, Volume 12, Issue 2, Page 770-780, April 2025.
Abstract Chronic kidney disease (CKD) and cardiovascular disease (CVD) have multiple bidirectional mechanisms, and anaemia is one of the critical factors that are associated with the progression of the two disorders [referred to as cardiorenal anaemia syndrome (CRAS)].
Shigeyuki Arai, Minoru Yasukawa, Shigeru Shibata   +2 more
wiley   +1 more source

Commonalities of platelet dysfunction in heart failure with preserved ejection fraction and underlying comorbidities

ESC Heart Failure, Volume 12, Issue 2, Page 1013-1028, April 2025.
Abstract Heart failure with preserved ejection fraction (HFpEF) is characterized by a lack of a specific targeted treatment and a complex, partially unexplored pathophysiology. Common comorbidities associated with HFpEF are hypertension, atrial fibrillation, obesity and diabetes.
Giorgia D'Italia, Blanche Schroen, Judith M.E.M. Cosemans   +2 more
wiley   +1 more source

Obstetric anesthesia considerations in Kearns-Sayre syndrome: a case report [PDF]

Korean Journal of Anesthesiology, 2014
Kearns-Sayre syndrome (KSS) is a rare mitochondrial myopathy that usually develops before 20 years of age. It demonstrates multisystemic involvement with a triad of cardinal features: progressive ophthalmoplegia, pigmentary retinopathy, and cardiac ...
Ali S Faris, Qutaiba A Tawfic, Leo Jeyaraj   +2 more
doaj   +1 more source

Research progress of electrophysiology for the diagnosis of metabolic myopathy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
Metabolic myopathies comprise a group of diverse disorders characterized by defects ofn energy metabolism in skeletal muscle cells, including glycogen storage disease (GSD), lipid storage myopathy (LSM) and mitochondrial myopathy.
Lei ZHAO, Li⁃ying CUI
doaj  

Linezolid Toxicity and Mitochondrial Susceptibility: A Novel Neurological Complication in a Lebanese Patient

Frontiers in Pharmacology, 2016
The recent rise in the use of linezolid to treat a variety of resistant pathogens has uncovered many side effects. Some patients develop lactic acidosis, myelosuppression, optic or peripheral neuropathies and myopathies.
Ossama K. Abou Hassan, Mohamad Karnib, Riyad El-Khoury, Georges Nemer, Mamdouha Ahdab-Barmada, Pierre Boukhalil   +5 more
doaj   +1 more source

Construct Validity and Reliability of the OMNI Scale in Children and Adolescents With Neuromuscular Diseases. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Children and adolescents with neuromuscular diseases often demonstrate muscle weakness and mobility limitations, which may increase perceived exertion during functional tasks. The OMNI scale was developed to assess perceived exertion in pediatric populations; however, its measurement properties in neuromuscular conditions ...
Cardoso J, Tonoli CC, Buzzetti BP, Davoli GB, Mattiello-Sverzut AC.   +4 more
europepmc   +2 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source