Results 161 to 170 of about 1,023,457 (221)

Mitochondrial Dysfunction Across Multiple Organs in Broilers Exhibiting Wooden Breast Myopathy. [PDF]

Animals (Basel)
Shakeri M, Chatterjee D, Rafieian-Naeini HR, Kim WK, Kong B, Bowker B.   +5 more
europepmc   +1 more source

Therapeutic Reversal of Severe Neuropsychiatric Symptoms in Wilson's Disease: A Case Report

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT Wilsons disease is an autosomal recessive genetic disorder of copper metabolism that results in copper accumulation in liver and other organs. Hepatic manifestation tends to occur earlier than the neurological manifestation. We present a case with psychiatric presentation.
Tshering Penjor, Sangay Dorji, Sonam Wangchuk   +2 more
wiley   +1 more source

Hypoxic Exercise Alleviates Diabetic Skeletal Myopathy in Zebrafish in Association with Hif1a/Foxo3a Signaling and Mitochondrial Quality Control. [PDF]

Int J Mol Sci
Li H, Chen Z, Deng Q, Zou Y, Huang S, Wang B, Zeng Y, Zheng L, Tang C, Zhou Z, Chen Y, Peng X.   +11 more
europepmc   +1 more source

Rapidly Progressing Interstitial Fibrosis and Glomerulonephritis due to Granulomatosis With Polyangiitis Presenting With Calf Pain

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT We describe a 51‐year‐old male presenting with bilateral calf pain and found to have rapidly progressing pulmonary‐renal syndrome due to GPA vasculitis, despite completing an empiric course of steroids for a gout flare. This case underscores the heterogeneous nature of GPA and the importance of early strong immunosuppressive therapy.
Lily Gupta (Allison), Yingxue Wang, Eugenia Chen   +2 more
wiley   +1 more source

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

The Impact of Cardiovascular Health and Welfare on Meat Quality in Modern Broiler Chickens: An Integrated Approach to Poultry Production. [PDF]

Animals (Basel)
Kościów W, Lisiecka E, Łukasiewicz Mierzejewska M.   +2 more
europepmc   +1 more source

Genotype and Phenotype Description in Individuals With GYG1 Variants—A Case Report and Systematic Review

JIMD Reports, Volume 67, Issue 6, November 2026.
ABSTRACT Glycogen Storage Disease Type XV (GSD XV) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in GYG1, encoding glycogenin‐1. Although primarily a myopathic disease, cardiac involvement is increasingly recognized and overlapping features with other neuromuscular disorders contribute to underdiagnosis.
M. Schadeck, A. Tankeu, J. Elmers, E. Hewer, F. Maurer, P. Monney, M. Théaudin, C. Tran   +7 more
wiley   +1 more source

Lightning Strikes Twice in the Same Place: Mitochondrial Myopathy and Malignant Hyperthermia-A Case Report. [PDF]

Case Rep Neurol Med
de Melo RSES, Mitsunaga Júnior JK, da Silva AMS, Souza BW, Santos JM, Andrade PV, Oliveira ASB, Sobreira CFDR, Vainzof M, da Silva HCA.   +9 more
europepmc   +1 more source

Hypertransaminasemia in hospitalized children: Insights from a national multicenter study by the Italian Society of Pediatric Gastroenterology, Hepatology, and Nutrition

Journal of Pediatric Gastroenterology and Nutrition, Volume 83, Issue 5, Page 841-848, November 2026.
Abstract Objectives Hypertransaminasemia is a frequent finding in hospitalized children with common pediatric illnesses, often considered a transitory phenomenon associated with systemic inflammation/injury. This study aims to assess the prevalence and causes of incidentally detected hypertransaminasemia in children admitted to general pediatric units ...
Angelo Di Giorgio, Giusy Ranucci, Pietro Aliberti, Carmela Pia Senatore, Camilla Calì, Angelo Mazza, Francesca Sbravati, Patrizia Alvisi, Maurizio Giuseppe Fuoti, Ilaria Rochira, Antonio Marseglia, Maria Rosa Pastore, Annalisa Madeo, Alessandro La Rosa, Federica Ferrari, Fortunata Sabrina Civitelli, Valentina Maffini, Icilio Dodi, Serena della Femina, Andrea Colangelo, Lorenzo D'Antiga, Claudia Mandato   +21 more
wiley   +1 more source

Assessment of Lectin Staining Biomarkers for GNE Myopathy Gene Therapy

Muscle &Nerve, Volume 74, Issue 5, Page 1456-1470, November 2026.
ABSTRACT Introduction/Aims GNE myopathy (GNEM) is a rare, autosomal recessive disorder caused by mutations in the UDP‐N‐acetylglucosamine (GlcNAc) 2‐epimerase/N‐acetylmannosamine (ManNAc) kinase (GNE) gene, which encodes a required enzyme for sialic acid (SA) biosynthesis.
Kristina M. Sattler, Brian J. Paleo, Mackenzie N. Roth, Kara E. Bradley, Megan N. Winkler, Wakako Yoshioka, Ichizo Nishino, Christoph Lepper, Kelly E. Crowe   +8 more
wiley   +1 more source