Results 111 to 120 of about 42,806 (266)

Association between serum bicarbonate and low mid‐upper arm circumference in patients with non‐dialysis‐dependent chronic kidney disease: A cross‐sectional study

Nutrition in Clinical Practice, EarlyView.
Abstract Background Although previous experimental studies showed that metabolic acidosis promoted muscle catabolism and impaired protein synthesis, few epidemiological studies reported an independent association between serum bicarbonate levels and muscle atrophy in patients with chronic kidney disease (CKD).
Nobuhisa Morimoto, Shintaro Mandai, Tamami Fujiki, Fumiaki Ando, Takayasu Mori, Koichiro Susa, Shotaro Naito, Eisei Sohara, Tatsuhiko Anzai, Kunihiko Takahashi, Wataru Akita, Akihito Ohta, Shinichi Uchida, Soichiro Iimori   +13 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

A Case Report of Inflammatory Myopathy and Sideroblastic Anemia

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2007
Mitochondrial myopathy, lactic acidosis, and siderobastic anemia (MLA SA) syndrome is one of the newly reported mitochondrial diseases, seven cases of which have been reported. We report a child with inflammatory myopathy, sideroblastic anemia and lactic
F Binesh, M Mortazavi Zadeh, R Fallah
doaj  

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

Characteristics of metabolic myopathies among Egyptian patients

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Background Metabolic Myopathies are characterized by defect in muscle energy production. The main symptoms are exercise intolerance, fatigue, myalgias, rhabdomyolysis and \or weakness, they present with episodic or fixed manifestations.
Mennat-Allah M. Elgamal, Hebatallah Rashed, Maha Nada, Hossam Sakr, Nagia Fahmy   +4 more
doaj   +1 more source

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

Brain Pathology, EarlyView.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos   +17 more
wiley   +1 more source

Interactions of mitochondrial and skeletal muscle biology in mitochondrial myopathy. [PDF]

Biochem J, 2023
Di Leo V, Bernardino Gomes TM, Vincent AE.   +2 more
europepmc   +1 more source

ER proteostasis meets mitochondrial function: contact sites as hubs of communication and therapeutic targets

The FEBS Journal, EarlyView.
Proteostasis ensures proper protein folding, modification, and degradation, while its impairment triggers ER stress. Chronic ER stress and maladaptive UPR via the CHOP–ERO1 axis remodel ERMCs, altering calcium signaling and mitochondrial metabolism.
Giorgia Maria Renna, Alessandro Cherubini, Ersilia Varone, Serena Germani, Alice Marrazza, Ester Zito   +5 more
wiley   +1 more source

Autosomal Recessive Mitochondrial Myopathy due to MICU-1 Variants. [PDF]

Ann Indian Acad Neurol, 2023
Finsterer J.
europepmc   +1 more source

PGC-1a in muscle links metabolism to inflammation [PDF]

, 2009
1. In higher eukaryotes, metabolism and immunity are tightly coupled. However, whereas in evolutionary terms, a compromised immune response due to undernourishment has been the predominant problem, the inflammatory response to obesity and other life ...
Handschin, C.
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