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Total 11221 results found since Jan 2013.
Cutting-edge regenerative therapy for Hirschsprung disease and its allied disorders
AbstractHirschsprung disease (HSCR) and its associated disorders (AD-HSCR) often result in severe hypoperistalsis caused by enteric neuropathy, mesenchymopathy, and myopathy. Notably, HSCR involving the small intestine, isolated hypoganglionosis, chronic idiopathic intestinal pseudo-obstruction, and megacystis-microcolon-intestinal hypoperistalsis syndrome carry a poor prognosis. Ultimately, small-bowel transplantation (SBTx) is necessary for refractory cases, but it is highly invasive and outcomes are less than optimal, despite advances in surgical techniques and management. Thus, regenerative therapy has come to light as...
Source: Surgery Today - September 5, 2023 Category: Surgery Source Type: research
Insights into the mechanisms of telbivudine-induced myopathy associated with mitochondrial dysfunction
In conclusion, our study provides compelling evidence suggesting that telbivudine-induced myopathy is associated with mitochondrial toxicity and impaired energy metabolism. The observed muscle pathology, depletion of mtDNA, elevation of oxidative stress and altered mitochondrial function support the hypothesis that telbivudine disrupts mitochondrial homeostasis, ultimately leading to muscle damage. This may be also a common mechanism for NAs to cause neuromyopathy.PMID:37659625 | DOI:10.1016/j.cbi.2023.110692
Source: Chemico-Biological Interactions - September 2, 2023 Category: Molecular Biology Authors: Wenfei Yu Zhuxvn Li Wenjing Wu Dandan Zhao Chuanzhu Yan Pengfei Lin Source Type: research
Immune ‐mediated necrotizing myopathy with concomitant development of Kikuchi–Fujimoto disease
AbstractImmune-mediated necrotizing myopathy (IMNM) is a distinct type of idiopathic inflammatory myositis, pathologically characterized by myofiber necrosis and degeneration in the absence of lymphocyte infiltration. Herein, we present a case of IMNM with concomitant development of Kikuchi –Fujimoto disease (KFD), characterized by histiocytic necrotizing lymphadenitis, in a 36-year-old woman who had a treatment history for rheumatoid arthritis (RA). Treatment with oral prednisolone and tacrolimus as immunosuppressants resulted in the remission of the skeletomuscular involvement and lymphadenopathy. To the best of our kn...
Source: International Journal of Rheumatic Diseases - September 1, 2023 Category: Rheumatology Authors: Takanori Ichikawa,
Ryo Furukawa,
Yasuhiro Shimojima,
Yumi Hoshino,
Dai Kishida,
Yoshiki Sekijima Tags: CASE REPORT Source Type: research
Pharmacogenetic analysis of inter-ethnic variability in the uptake transporter SLCO1B1 gene in Colombian, Mozambican, and Portuguese populations
Statin-induced myopathy is reported to be associated with the solute carrier organic anion transporter family member 1B1 gene single nucleotide polymorphism, c.521 T > C. There is no epidemiologic data on this...
Source: BMC Medical Genomics - September 1, 2023 Category: Genetics & Stem Cells Authors: Mulata Haile Nega, Derbew Fikadu Berhe and Vera Ribeiro Tags: Research Source Type: research
Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey
ConclusionThis study highlights that clinical recognition of congenital myasthenic syndrome and knowledge of related genes will aid the rapid diagnosis and treatment of these rare neuromuscular disorders. Findings in the juvenile myasthenia gravis group demonstrate the impact of pubertal development and the need for timely and appropriate active therapy, including thymectomy, to improve prognosis.
Source: Acta Neurologica Belgica - September 1, 2023 Category: Neurology Source Type: research
Hypoglycin A in Acer genus plants
Toxicon. 2023 Aug 29:107271. doi: 10.1016/j.toxicon.2023.107271. Online ahead of print.ABSTRACTHypoglycin A (HGA) is an amino acid occuring in the Sapindaceae family. Ingestion of certain Acer genus plants belonging to this family has been connected with atypical myopathy (AM) or seasonal pasture myopathy (SPM). To date, all cases of AM/SPM have been associated with sycamore (Acer pseudoplatanus) and boxelder maple (Acer negundo). The aim of this work was to determine and compare HGA in sycamore, boxelder and silver maple (Acer saccharinum), the trees known for HGA content, whose occurence is quite common in the Czech Repu...
Source: Toxicon - August 31, 2023 Category: Toxicology Authors: Tereza Novotn á Petr Jahn Eva Šamonilová Michaela Kabe šová Sabina Posp íšilová Petr Mar šálek Source Type: research
Two cases of dermatomyositis associated with neuroendocrine tumors
AbstractDermatomyositis is an idiopathic inflammatory myopathy with cutaneous manifestations, which is associated with several types of malignancies, yet it has been rarely linked to neuroendocrine tumors (NETs). Here we report two cases of dermatomyositis associated with NETs of differing primary sites. Case 1: A 46-year-old female presented with a facial rash and proximal muscle weakness of both extremities. Investigations revealed elevated creatine kinase (CK) and positive anti-transcriptional intermediary factor 1- γ antibody (TIF1γ). The patient had been diagnosed with dermatomyositis and underwent a total body CT s...
Source: International Cancer Conference Journal - August 31, 2023 Category: Cancer & Oncology Source Type: research
Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function
Stem Cell Res. 2023 Aug 22;71:103186. doi: 10.1016/j.scr.2023.103186. Online ahead of print.ABSTRACTDysfunction of visceral smooth muscle ("visceral myopathy") impairs bowel, bladder, and uterine function. Symptoms of this life-threatening condition include massive intestinal distension with slow transit, vomiting, feeding intolerance, growth failure, poor bladder emptying, and difficult vaginal delivery. The most common genetic cause of visceral myopathy is a heterozygous point mutation (R257C) in gamma smooth muscle actin (ACTG2). We genetically modified the WAe0009-A human embryonic stem cell line to carry the c.769C>...
Source: Cell Research - August 29, 2023 Category: Cytology Authors: Sohaib K Hashmi Sabine Schneider Alyssa L Gagne Jean Ann Maguire Sierra Anderson Paul Gadue Robert O Heuckeroth Deborah L French Source Type: research
WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy
Ann Clin Transl Neurol. 2023 Aug 25. doi: 10.1002/acn3.51884. Online ahead of print.ABSTRACTOBJECTIVE: We created WiTNNess as a hybrid prospective/cross-sectional observational study to simulate a clinical trial for infantile-onset TNNT1 myopathy. Our aims were to identify populations for future trial enrollment, rehearse outcome assessments, specify endpoints, and refine trial logistics.METHODS: Eligible participants had biallelic pathogenic variants of TNNT1 and infantile-onset proximal weakness without confounding conditions. The primary endpoint was ventilator-free survival. "Thriving" was a secondary endpoint defined ...
Source: Cancer Control - August 26, 2023 Category: Cancer & Oncology Authors: Kevin A Strauss Vincent J Carson Emilienne Bolettieri Mariah Everett Ashton Bollinger Lauren E Bowser Keturah Beiler Millie Young Simon Edvardson Nitay Fraenkel Adele D'Amico Enrico Bertini Lokesh Lingappa Devyani Chowdhury Linda P Lowes Megan Iammarino L Source Type: research
Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line
Stem Cell Res. 2023 Aug 22;71:103188. doi: 10.1016/j.scr.2023.103188. Online ahead of print.ABSTRACTVariants in CRYAB can lead to desmin-related (cardio-)myopathy (DRM), a genetic muscle disorder with no curative treatment available. We introduced a homozygous CRYAB c.358G > A (p.Arg120Gly) mutation, which is established for the study of DRM in mice, into a donor human induced pluripotent stem cell (hiPSC) line. Control and mutant hiPSCs were tested for karyotype integrity and pluripotency marker expression. HiPSCs could be differentiated into endoderm, ectoderm and cardiomyocytes as a mesodermal derivative in vitro. CR...
Source: Cell Research - August 26, 2023 Category: Cytology Authors: Niels Pietsch Jiancheng Cheng Antonietta Fazio Leonie Ewald Erda Alizoti Elisabeth Kr ämer Ellen Orthey Lucie Carrier Sonia R Singh Source Type: research
GNE Myopathy: Can homozygous asymptomatic subjects give a clue for the identification of protective factors?
GNE myopathy is caused by bi allelic recessive mutations in the GNE gene, which encodes a bifunctional enzyme in the metabolic pathway of sialic acid synthesis. The product of the GNE gene is UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (UDP-GlcNAc 2-epimerase/ManNAc kinase, GNE), a 753 amino acid highly conserved protein in mammals. GNE myopathy is a rare worldwide neuromuscular disease, usually manifesting with slowly progressive distal muscle weakness in early adulthood, and a typical muscle pathology [1,2].
Source: Neuromuscular Disorders - August 26, 2023 Category: Neurology Authors: Stella Mitrani-Rosenbaum, Ruben Attali, Zohar Argov Source Type: research
Statins and immune-mediated necrotizing myopathy: Variability in the risk
CONCLUSION: Atorvastatin presents the highest risk of IMNM. Our data suggest that the occurrence of IMNM is a class effect.PMID:37625939 | DOI:10.1016/j.therap.2023.07.005
Source: Therapie - August 25, 2023 Category: Psychiatry & Psychology Authors: Thierry Trenque Jed Hadjoudj Agathe Trenque Federica Tralongo Salom é Martin Brahim Azzouz Source Type: research
