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Myopathies

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https://www.readbyqxmd.com/read/28340105/morin-stain-detects-aluminum-containing-macrophages-in-macrophagic-myofasciitis-and-vaccination-granuloma-with-high-sensitivity-and-specificity
#1
Rati Chkheidze, Dennis K Burns, Charles L White, Diana Castro, Julie Fuller, Chunyu Cai
Macrophagic myofasciitis (MMF) is an inflammatory condition associated with the intramuscular (i.m.) injection of aluminum adjuvant-containing vaccines. It is clinically characterized by myalgia, weakness, and chronic fatigue and histologically by aggregates of cohesive macrophages with abundant basophilic, periodic acid-Schiff (PAS)-positive, diastase-resistant granules that percolate through the peri- and endomysium without eliciting substantial myofiber damage. The definitive diagnosis of MMF requires demonstration of aluminum within these macrophages...
March 15, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28338606/dystrophic-cardiomyopathy-potential-role-of-calcium-in-pathogenesis-treatment-and-novel-therapies
#2
REVIEW
Victoria P A Johnstone, Helena M Viola, Livia C Hool
Duchenne muscular dystrophy (DMD) is caused by defects in the DMD gene and results in progressive wasting of skeletal and cardiac muscle due to an absence of functional dystrophin. Cardiomyopathy is prominent in DMD patients, and contributes significantly to mortality. This is particularly true following respiratory interventions that reduce death rate and increase ambulation and consequently cardiac load. Cardiomyopathy shows an increasing prevalence with age and disease progression, and over 95% of patients exhibit dilated cardiomyopathy by the time they reach adulthood...
March 24, 2017: Genes
https://www.readbyqxmd.com/read/28337975/a-chemical-chaperone-improves-muscle-function-in-mice-with-a-ryr1-mutation
#3
Chang Seok Lee, Amy D Hanna, Hui Wang, Adan Dagnino-Acosta, Aditya D Joshi, Mark Knoblauch, Yan Xia, Dimitra K Georgiou, Jianjun Xu, Cheng Long, Hisayuki Amano, Corey Reynolds, Keke Dong, John C Martin, William R Lagor, George G Rodney, Ergun Sahin, Caroline Sewry, Susan L Hamilton
Mutations in the RYR1 gene cause severe myopathies. Mice with an I4895T mutation in the type 1 ryanodine receptor/Ca(2+) release channel (RyR1) display muscle weakness and atrophy, but the underlying mechanisms are unclear. Here we show that the I4895T mutation in RyR1 decreases the amplitude of the sarcoplasmic reticulum (SR) Ca(2+) transient, resting cytosolic Ca(2+) levels, muscle triadin content and calsequestrin (CSQ) localization to the junctional SR, and increases endoplasmic reticulum (ER) stress/unfolded protein response (UPR) and mitochondrial ROS production...
March 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/28337173/twenty-year-clinical-progression-of-dysferlinopathy-in-patients-from-dagestan
#4
Zoya R Umakhanova, Sergei N Bardakov, Mikhail O Mavlikeev, Olga N Chernova, Raisat M Magomedova, Patimat G Akhmedova, Ivan A Yakovlev, Gimat D Dalgatov, Valerii P Fedotov, Artur A Isaev, Roman V Deev
To date, over 30 genes with mutations causing limb-girdle muscle dystrophy have been described. Dysferlinopathies are a form of limb-girdle muscle dystrophy type 2B with an incidence ranging from 1:1,300 to 1:200,000 in different populations. In 1996, Dr. S. N. Illarioshkin described a family from the Botlikhsky district of Dagestan, where limb-girdle muscle dystrophy type 2B and Miyoshi myopathy were diagnosed in 12 members from three generations of a large Avar family. In 2000, a previously undescribed mutation in the DYSF gene (c...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28337097/neuromuscular-disease-mimicking-myasthenia-gravis-in-a-nigerian-female-adolescent-could-this-be-nemaline-rod-disease
#5
O A Oyinlade, I A Lagunju, B E Adebayo
BACKGROUND: Nemaline rod disease is a congenital myopathy, presentation of which may mimic myasthenia gravis. METHOD: We report a suspected case of nemaline rod disease in a female adolescent who presented with features similar to myasthenia gravis but failed to respond effectively to its conventional management. She had features of respiratory failure and cardiomyopathy. RESULTS: Patient had a turbulent clinical course and finally succumbed to illness on the fifth day of admission...
December 2016: Annals of Ibadan Postgraduate Medicine
https://www.readbyqxmd.com/read/28336318/concentric-muscle-involvement-in-polg-related-distal-myopathy
#6
Giorgio Tasca, Mauro Monforte, Claudia Nesti, Filippo Maria Santorelli, Gabriella Silvestri, Enzo Ricci
No abstract text is available yet for this article.
March 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28335860/-muscling-throughout-life-integrating-studies-of-muscle-development-homeostasis-and-disease-in-zebrafish
#7
Michelle F Goody, Erin V Carter, Elisabeth A Kilroy, Lisa Maves, Clarissa A Henry
The proper development and function of skeletal muscle is vital for health throughout the lifespan. Skeletal muscle function enables posture, breathing, and locomotion; and also impacts systemic processes-such as metabolism, thermoregulation, and immunity. Diseases of skeletal muscle (myopathies, muscular dystrophies) and even some neurological, age-related, and metabolic diseases compromise muscle function and negatively affect health span and quality of life. There have been numerous, recent examples of studies on skeletal muscle development with exciting, therapeutic implications for muscle diseases...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28333717/effect-of-resistance-exercise-on-muscle-metabolism-and-autophagy-in-sibm
#8
Jae-Hoon Jeong, Dae-Seung Yang, Dong-Ju Hwang, Joon-Yong Cho, Eun-Bum Kang
PURPOSE: Sporadic inclusion body myositis (sIBM), a muscular degenerative disease in the elderly, is an inflammatory myopathy characterized by muscle weakness in the wrist flexor, quadriceps, and tibialis anterior muscles. We aimed to identify the therapeutic effect of resistance exercise (RE) in improving sIBM symptoms in an sIBM animal model. METHODS: Six-week-old male Wistar rats were divided into a sham group (sham, n = 12), chloroquine-control group (CQ-con, n = 12), and chloroquine-RE group (CQ-RE, n = 12)...
March 23, 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28330871/human-mitochondrial-cytochrome-c-oxidase-assembly-factor-cox18-acts-transiently-as-a-membrane-insertase-within-the-subunit-2-maturation-module
#9
Myriam Bourens, Antoni Barrientos
Defects in mitochondrial cytochrome c oxidase or respiratory chain complex IV (CIV) assembly are a frequent cause of human mitochondrial disorders. Specifically, mutations in four conserved assembly factors impinging the biogenesis of the mitochondrion-encoded catalytic core subunit 2 (COX2) result in myopathies. These factors afford stability of newly-synthesized COX2 (the dystonia-ataxia syndrome protein COX20), a protein with two transmembrane domains, and maturation of its copper center CuA (cardiomyopathy proteins SCO1, SCO2 and COA6)...
March 22, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28330496/calcium-dysregulation-functional-calpainopathy-and-endoplasmic-reticulum-stress-in-sporadic-inclusion-body-myositis
#10
David R Amici, Iago Pinal-Fernandez, Davi A G Mázala, Thomas E Lloyd, Andrea M Corse, Lisa Christopher-Stine, Andrew L Mammen, Eva R Chin
Sporadic inclusion body myositis (IBM) is the most common primary myopathy in the elderly, but its pathoetiology is still unclear. Perturbed myocellular calcium (Ca(2+)) homeostasis can exacerbate many of the factors proposed to mediate muscle degeneration in IBM, such as mitochondrial dysfunction, protein aggregation, and endoplasmic reticulum stress. Ca(2+) dysregulation may plausibly be initiated in IBM by immune-mediated membrane damage and/or abnormally accumulating proteins, but no studies to date have investigated Ca(2+) regulation in IBM patients...
March 22, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28325824/persistence-of-myopathy-in-cushing-s-syndrome-evaluation-of-the-german-cushing-s-registry
#11
Christina Maria Berr, Mareike R Stieg, Timo Deutschbein, Marcus Quinkler, Ralf Schmidmaier, Andrea Osswald, Nicole Reisch, Katrin Ritzel, Christina Dimopoulou, Julia Fazel, Stefanie Hahner, Gunter K Stalla, Felix Beuschlein, Martin Reincke
BACKGROUND: Cushing's syndrome (CS) is characterized by an excessive secretion of glucocorticoids that results in a characteristic clinical phenotype. One feature of clinical hypercortisolism is breakdown of protein metabolism translating into clinical consequences including glucocorticoid induced myopathy. While surgery is effective in control of cortisol excess, the effect of biochemical remission on muscular function is yet unclear. METHODS: In a cross-sectional study we analyzed 47 patients with CS during the florid phase (ActiveCS)...
March 21, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28325301/increased-expression-of-laminin-subunit-alpha-1-chain-by-dcas9-vp160
#12
Arnaud Perrin, Joël Rousseau, Jacques P Tremblay
Laminin-111 protein complex links the extracellular matrix to integrin α7β1 in sarcolemma, thus replacing in dystrophic muscles links normally insured by the dystrophin complex. Laminin-111 injection in mdx mouse stabilized sarcolemma, restored serum creatine kinase to wild-type levels, and protected muscles from exercised-induced damages. These results suggested that increased laminin-111 is a potential therapy for DMD. Laminin subunit beta 1 and laminin subunit gamma 1 are expressed in adult human muscle, but laminin subunit alpha 1 (LAMA1) gene is expressed only during embryogenesis...
March 17, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28324239/mtdna-maintenance-defects-syndromes-and-genes
#13
Carlo Viscomi, Massimo Zeviani
A large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic progressive external ophthalmoplegia (CPEOs), are inherited as Mendelian disorders characterized by disturbed mitochondrial DNA (mtDNA) maintenance. These errors of nuclear-mitochondrial intergenomic signaling may lead to mtDNA depletion, accumulation of mtDNA multiple deletions, or both, in critical tissues. The genes involved encode proteins belonging to at least three pathways: mtDNA replication and maintenance, nucleotide supply and balance, and mitochondrial dynamics and quality control...
March 21, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28322724/valosin-containing-protein-vcp-p97-inhibitors-relieve-mitofusin-dependent-mitochondrial-defects-due-to-vcp-disease-mutants
#14
Ting Zhang, Prashant Mishra, Bruce A Hay, David Chan, Ming Guo
Missense mutations of valosin-containing protein (VCP) cause an autosomal dominant disease known as inclusion body myopathy, Paget disease with frontotemporal dementia (IBMPFD) and other neurodegenerative disorders. The pathological mechanism of IBMPFD is not clear and there is no treatment. We show that endogenous VCP negatively regulates Mitofusin, which is required for outer mitochondrial membrane fusion. Because 90% of IBMPFD patients have myopathy, we generated an in vivo IBMPFD model in adult Drosophila muscle, which recapitulates disease pathologies...
March 21, 2017: ELife
https://www.readbyqxmd.com/read/28321307/a-cola-induced-hypokalemic-rhabdomyolysis-with-electromyographic-evaluation-a-case-report
#15
Davide Ferrazzoli, Annarita Sabetta, Grazia Palamara, Luca Caremani, Marina Capobianco, Pietro Balbi, Giuseppe Frazzitta
OBJECTIVE: To report a rare case of hypokalemic rhabdomyolysis induced by the heavy and prolonged ingestion of cola-based beverages, and its uneventful recovery after kalemia normalization. METHODS: We report a 38-year-old Caucasian male presented in our emergency room with a recent and progressive weakness of the lower limbs proximal muscles. RESULTS: A dietary history revealed a prolonged ingestion of cola-based beverages. Blood tests showed severe hypokalemia and marked increase in serum creatine phosphokinase...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28318037/deoxycytidine-and-deoxythymidine-treatment-for-thymidine-kinase-2-deficiency
#16
Carlos Lopez-Gomez, Rebecca J Levy, Maria J Sanchez-Quintero, Marti Juanola-Falgarona, Emanuele Barca, Beatriz Garcia-Diaz, Saba Tadesse, Caterina Garone, Michio Hirano
OBJECTIVE: Thymidine kinase 2 (TK2), a critical enzyme in the mitochondrial pyrimidine salvage pathway, is essential for mitochondrial DNA (mtDNA) maintenance. Mutations in the nuclear gene TK2 cause TK2 deficiency, which manifests predominantly in children as myopathy with mtDNA depletion. Molecular bypass therapy with the TK2 products, dCMP and dTMP, prolongs the lifespan of Tk2-deficient (Tk2(-/-) ) mice by 2-3 fold. Because we observed rapid catabolism of the deoxynucleoside monophosphates to deoxythymidine (dT) and deoxycytidine (dC), we hypothesized that: 1) deoxynucleosides might be the major active agents and 2) inhibition of deoxycytidine deamination might enhance dTMP+dCMP therapy...
March 20, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28316293/acute-extremity-compartment-syndrome-secondary-to-statin-induced-myopathy
#17
Zachary E Stiles, Dorothy A Sparks
No abstract text is available yet for this article.
March 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/28315611/added-value-of-electromyography-in-the-diagnosis-of-myopathy-a-consensus-exercise
#18
K Pugdahl, B Johnsen, H Tankisi, J P Camdessanché, M de Carvalho, P R W Fawcett, A Labarre-Vila, R Liguori, W Nix, I Schofield, A Fuglsang-Frederiksen
OBJECTIVE: Currently, neurologists may primarily rely on blood biomarkers, muscle biopsy, MRI, and genetics in the diagnostic work-up of suspected myopathy. Using expert consensus as diagnostic reference standard, this study addressed the added value of electrodiagnostic medicine (EDX) in diagnosis of myopathies. METHODS: One hundred ninety-four EDX evaluations of patients with a peer-review consensus diagnosis of myopathy were collected by seven European centres...
February 15, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28303975/a-conserved-inter-domain-communication-mechanism-regulates-the-atpase-activity-of-the-aaa-protein-drg1
#19
Michael Prattes, Mathias Loibl, Gertrude Zisser, Daniel Luschnig, Lisa Kappel, Ingrid Rössler, Manuela Grassegger, Altijana Hromic, Elmar Krieger, Karl Gruber, Brigitte Pertschy, Helmut Bergler
AAA-ATPases fulfil essential roles in different cellular pathways and often act in form of hexameric complexes. Interaction with pathway-specific substrate and adaptor proteins recruits them to their targets and modulates their catalytic activity. This substrate dependent regulation of ATP hydrolysis in the AAA-domains is mediated by a non-catalytic N-terminal domain. The exact mechanisms that transmit the signal from the N-domain and coordinate the individual AAA-domains in the hexameric complex are still the topic of intensive research...
March 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28302902/risk-of-febuxostat-associated-myopathy-in-patients-with-ckd
#20
Chung-Te Liu, Chun-You Chen, Chien-Yi Hsu, Po-Hsun Huang, Feng-Yen Lin, Jaw-Wen Chen, Shing-Jong Lin
BACKGROUND AND OBJECTIVES: Febuxostat, a nonpurine xanthine oxidase inhibitor, is widely used to treat hyperuricemia. Although febuxostat-associated rhabdomyolysis was reported in some patients with CKD, the association between CKD and febuxostat-associated myopathy remains uncertain. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Our retrospective cohort study included 1332 patients using febuxostat in Taipei Medical University-Wanfang Hospital from February of 2014 to January of 2016...
March 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
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