Results 31 to 40 of about 988,052 (165)

Carnitne Palmitoyltransferase II Defciency, a Rare Cause of Rhabdomyolysis: A Case Report

Case Reports in Clinical Practice, 2019
Introduction: Muscle weakness and rhabdomyolysis have a wide range of differential diagnosis. In many situations, they are induced by seizure, trauma, drugs, and toxins. They could also be due to inflammatory or metabolic myopathies.
Parisa Farshchi, Sahar Karimpour Reyhan, Mahsa Abbaszadeh, Shadi Shiva   +3 more
doaj   +1 more source

Carbamazepine for Chronic Muscle Pain: A Retrospective Assessment of Indications, Side Effects, and Treatment Response

Brain Sciences, 2023
Myopathies fall under the umbrella of rare diseases, however, muscle pain is a relevant, under-recognized symptom with limited treatment options. Carbamazepine is an oral sodium channel blocker approved for the treatment of seizures and neuropathic pain.
Tabea M. Dyong, Burkhard Gess, Christina Dumke, Roman Rolke, Maike F. Dohrn   +4 more
doaj   +1 more source

Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies

eLife, 2023
Skeletal muscles are a highly structured tissue responsible for movement and metabolic regulation, which can be broadly subdivided into fast and slow twitch muscles with each type expressing common as well as specific sets of proteins.
Jan Eckhardt, Alexis Ruiz, Stéphane Koenig, Maud Frieden, Hervé Meier, Alexander Schmidt, Susan Treves, Francesco Zorzato   +7 more
doaj   +1 more source

Metabolic myopathy presenting with polyarteritis nodosa: a case report

Journal of Medical Case Reports, 2011
Introduction To the best of our knowledge, we describe for the first time a patient in whom an unusual metabolic myopathy was identified after failure to respond to curative therapy for a systemic vasculitis, polyarteritis nodosa.
Elbalkhi Amro, Abdullah Mishal, Vishwanath Sahana, Ambrus Julian L   +3 more
doaj   +1 more source

Autophagy in muscle regeneration: potential therapies for myopathies

Journal of Cachexia, Sarcopenia and Muscle, 2022
Autophagy classically functions as a physiological process to degrade cytoplasmic components, protein aggregates, and/or organelles, as a mechanism for nutrient breakdown, and as a regulator of cellular architecture.
Wei Chen, Yushi Chen, Yuxi Liu, Xinxia Wang   +3 more
doaj   +1 more source

Adiponectin in Myopathies [PDF]

, 2019
In skeletal muscle, adiponectin has varied and pleiotropic functions, ranging from metabolic, anti-inflammatory, insulin-sensitizing to regenerative roles.
Magherini, Francesca, Tania Gamberi, Francesca Magherini, Gamberi, Tania, Tania Fiaschi, Fiaschi, Tania   +5 more
core   +1 more source

The Polyphenol Pterostilbene Ameliorates the Myopathic Phenotype of Collagen VI Deficient Mice via Autophagy Induction

Frontiers in Cell and Developmental Biology, 2020
The induction of autophagy, the catabolic pathway by which damaged or unnecessary cellular components are subjected to lysosome-mediated degradation and recycling, is impaired in Collagen VI (COL6) null mice and COL6-related myopathies.
Samuele Metti, Lisa Gambarotto, Martina Chrisam, Martina Baraldo, Paola Braghetta, Bert Blaauw, Bert Blaauw, Paolo Bonaldo, Paolo Bonaldo   +8 more
doaj   +1 more source

Case report: Rhabdomyolysis in children in acute and chronic disease—a challenging condition in pediatric emergency medicine

Frontiers in Pediatrics, 2023
Rhabdomyolysis is a challenging condition in pediatric emergency departments (PED): It ranges from asymptomatic illness with isolated elevation of creatine kinase (CK) levels to a life-threatening condition associated with extreme elevations in CK ...
N. Mand, C. Donath, A. Leonhardt, S. Weber, M. Kömhoff   +4 more
doaj   +1 more source

SEQUENCE VARIANTS IN THE RYR1 GENE AND GENETIC DISEASES: MALIGNANT HYPERTHERMIA AND CONGENITAL MYOPATHIES [PDF]

, 2009
This PhD thesis has been focused on the identification and functional characterization of sequence variants in the RYR1 gene, associated with Malignant hyperthermia (MH) and some congenital myopathies (CMs).
Perrotta, Giuseppa
core   +1 more source

Doenças neuromusculares Neuromuscular disorders

Jornal de Pediatria, 2002
Objetivo: apresentar os dados essenciais para o diagnóstico diferencial entre as principais doenças neuromusculares, denominação genérica sob a qual agrupam-se diferentes afecções, decorrentes do acometimento primário da unidade motora (motoneurônio ...
Umbertina C. Reed
doaj   +1 more source