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Muscular myopathy

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https://www.readbyqxmd.com/read/28338606/dystrophic-cardiomyopathy-potential-role-of-calcium-in-pathogenesis-treatment-and-novel-therapies
#1
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/28335860/-muscling-throughout-life-integrating-studies-of-muscle-development-homeostasis-and-disease-in-zebrafish
#2
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
#3
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/28325824/persistence-of-myopathy-in-cushing-s-syndrome-evaluation-of-the-german-cushing-s-registry
#4
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/28315611/added-value-of-electromyography-in-the-diagnosis-of-myopathy-a-consensus-exercise
#5
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/28302902/risk-of-febuxostat-associated-myopathy-in-patients-with-ckd
#6
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
https://www.readbyqxmd.com/read/28281460/necrotising-myopathy-associated-with-anti-signal-recognition-particle-anti-srp-antibody
#7
Fernando Henrique Carlos De Souza, Renata Miossi, Samuel Katsuyuki Shinjo
OBJECTIVES: Prompted by the few studies available in the literature, we analysed patients with necrotising myopathy associated with anti-signal recognition particle (anti-SRP). METHODS: We conducted a retrospective, single-centre cohort study involving 14 patients with anti-SRP antibody followed between 2001 and 2016. RESULTS: Patients had a mean age at disease onset of 40.7 years and were predominantly female and of white ethnicity. At disease onset, all patients had limb muscle weakness with median serum of creatine phosphokinase level of 8080U/L, 64...
March 3, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28280999/histomorphologic-and-ultrastructural-recovery-of-myopathy-in-rats-treated-with-low-level-laser-therapy
#8
Natalia Servetto, David Cremonezzi, Juan Carlos Simes, Antonio Di Pietro, Vilma R Campana
The purpose of the present work was to study the effect of low-level laser therapy (LLLT): helium-neon (He-Ne) and gallium arsenide (Ga-As) laser on the histomorphology of muscle and mitochondria in experimental myopathy in rats. Thirty Suquía strain female rats were distributed in groups: (A) control (intact), (B) injured, (C) injured and treated with He-Ne laser, (D) injured and treated with Ga-As laser, (E) irradiated with He-Ne laser on the non-injured muscle, and (F) irradiated with Ga-As laser on the non-injured muscle...
March 9, 2017: Lasers in Medical Science
https://www.readbyqxmd.com/read/28279643/follistatin-gene-therapy-for-sporadic-inclusion-body-myositis-improves-functional-outcomes
#9
Jerry R Mendell, Zarife Sahenk, Samiah Al-Zaidy, Louise R Rodino-Klapac, Linda P Lowes, Lindsay N Alfano, Katherine Berry, Natalie Miller, Mehmet Yalvac, Igor Dvorchik, Melissa Moore-Clingenpeel, Kevin M Flanigan, Kathleen Church, Kim Shontz, Choumpree Curry, Sarah Lewis, Markus McColly, Mark J Hogan, Brian K Kaspar
Sporadic inclusion body myositis, a variant of inflammatory myopathy, has features distinct from polymyositis/dermatomyositis. The disease affects men more than women, most commonly after age 50. Clinical features include weakness of the quadriceps, finger flexors, ankle dorsiflexors, and dysphagia. The distribution of weakness is similar to Becker muscular dystrophy, where we previously reported improvement following intramuscular injection of an isoform of follistatin (FS344) by AAV1. For this clinical trial, rAAV1...
March 6, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28277555/frequency-and-causes-of-hypotonia-in-neonatal-period-with-the-gestational-age-of-more-than-36-weeks-in-nicu-of-mofid-children-hospital-tehran-iran-during-2012-2014
#10
Nosratollah Seyed Shahabi, Hossain Fakhraee, Mohammad Kazemian, Abolfazl Afjeh, Minoo Fallahi, Maryam Shariati, Fatemeh Gorji
OBJECTIVE: Hypotonia is a serious neurologic problem in neonatal period. Although hypotonia is a nonspecific clinical finding but it is the most common motor disorder in the newborn. The objective of this study was to determine the frequency of neonatal hypotonia then to ascertain of the most common causes. MATERIALS & METHODS: This cross -sectional prospective study was carried out on the 3281 term infants hospitalized in conventional and NICU of Mofid Children Hospital, Tehran, Iran during 2012-2014...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28277227/-red-yeast-rice-induced-muscular-injuries-analysis-of-french-pharmacovigilance-database-and-literature-review
#11
Christelle Philibert, Virginie Bres, Marie-Josèphe Jean-Pastor, Claire Guy, Bénédicte Lebrun-Vignes, Perrine Robin, Véronique Pinzani, Dominique Hillaire-Buys
Red yeast rice (RYR) is a dietary supplement containing monacolins obtained by fermentation of Monascus purpureus strains. Because of its structural homology with lovastatin, monacolin K inhibits HMG-CoA reductase and shows hypocholesterolemic properties comparable to synthetic statins. We studied all cases of myopathy involving RYR reported in the French national pharmacovigilance database (6 cases) and in scientific literature (9 cases). Among these cases, 9 showed elevated creatine kinase, 3 rhabdomyolysis and 2 myalgia...
October 27, 2016: Thérapie
https://www.readbyqxmd.com/read/28273791/antisense-oligonucleotides-used-to-target-the-dux4-mrna-as-therapeutic-approaches-in-faciosscapulohumeral-muscular-dystrophy-fshd
#12
Eugénie Ansseau, Céline Vanderplanck, Armelle Wauters, Scott Q Harper, Frédérique Coppée, Alexandra Belayew
FacioScapuloHumeral muscular Dystrophy (FSHD) is one of the most prevalent hereditary myopathies and is generally characterized by progressive muscle atrophy affecting the face, scapular fixators; upper arms and distal lower legs. The FSHD locus maps to a macrosatellite D4Z4 repeat array on chromosome 4q35. Each D4Z4 unit contains a DUX4 gene; the most distal of which is flanked by a polyadenylation site on FSHD-permissive alleles, which allows for production of stable DUX4 mRNAs. In addition, an open chromatin structure is required for DUX4 gene transcription...
March 3, 2017: Genes
https://www.readbyqxmd.com/read/28269794/myofibrillar-myopathies-new-perspectives-from-animal-models-to-potential-therapeutic-approaches
#13
Sabrina Batonnet-Pichon, Anthony Behin, Eva Cabet, Florence Delort, Patrick Vicart, Alain Lilienbaum
Myofibrillar myopathies (MFMs) are muscular disorders involving proteins that play a role in the structure, maintenance processes and protein quality control mechanisms closely related to the Z-disc in the muscular fibers. MFMs share common histological characteristics including progressive disorganization of the interfibrillar network and protein aggregation. Currently no treatment is available. In this review, we describe first clinical symptoms associated with mutations of the six genes (DES, CRYAB, MYOT, ZASP, FLNC and BAG3) primary involved in MFM and defining the origin of this pathology...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28240307/new-targets-to-alleviate-skeletal-muscle-inflammation-role-of-micrornas-regulated-by-adiponectin
#14
Raphaël Boursereau, Michel Abou-Samra, Sophie Lecompte, Laurence Noel, Sonia M Brichard
Muscle inflammation worsens metabolic disorders as well as devastating myopathies. The hormone adiponectin (ApN) has emerged has a master regulator of inflammation/immunity in several tissues including the skeletal muscle. In this work, we explore whether microRNAs regulated by ApN may represent novel mechanisms for controlling muscle inflammation. By screening arrays, we found miR-711 as a strong candidate for mediating ApN action. Thus, ApN-knockout mice showed decreased muscular expression of miR-711 together with enhanced inflammation/oxidative stress markers, while mice overexpressing ApN showed increased miR-711 levels...
February 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28224104/exertional-rhabdomyolysis-and-heat-stroke-beware-of-volatile-anesthetic-sedation
#15
REVIEW
Karel Heytens, Jan De Bleecker, Walter Verbrugghe, Jonathan Baets, Luc Heytens
In view of the enormous popularity of mass sporting events such as half-marathons, the number of patients with exertional rhabdomyolysis or exercise-induced heat stroke admitted to intensive care units (ICUs) has increased over the last decade. Because these patients have been reported to be at risk for malignant hyperthermia during general anesthesia, the intensive care community should bear in mind that the same risk of life-threatening rhabdomyolysis is present when these patients are admitted to an ICU, and volatile anesthetic sedation is chosen as the sedative technique...
February 4, 2017: World Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/28221312/what-s-in-the-literature
#16
David Lacomis, Nicholas J Silvestri, Edward J Fine, Gil I Wolfe
In this edition of this column, we review new studies concerning the pathophysiology, treatment, and outcomes of patients with necrotizing myopathy, genetic testing in congenital myopathies, and limb girdle muscular dystrophies, and the incidence of polyneuropathy in the myotonic dystrophies. Various studies in myasthenia gravis, including those concerning antibody testing, clinical features, and quality of life are also reviewed as are recent findings in congenital myasthenic syndromes. Finally, 2 studies concerning polyneuropathy are discussed, including one on the association of polyneuropathy in patients with the metabolic syndrome and one on laboratory testing in patients with otherwise idiopathic small fiber polyneuropathy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28219093/-impact-of-vitamin-d-in-sports-does-vitamin-d-insufficiency-compromise-athletic-performance
#17
Sebastian Butscheidt, Tim Rolvien, Peter Ueblacker, Michael Amling, Florian Barvencik
Introduction Vitamin D is essential for calcium homeostasis and regulates the expression of over 900 genes. It thereby influences musculoskeletal health and function. Additionally, multiple other effects were observed through the detection of vitamin D receptors (VDR) in numerous tissues of the human body. Material and Methods We reviewed the literature regarding evidence of the impact of vitamin D on musculoskeletal health and peak athletic performance. Results and Discussion It is well known that there is a high prevalence of vitamin D deficiency in the average European population...
February 20, 2017: Sportverletzung Sportschaden: Organ der Gesellschaft Für Orthopädisch-Traumatologische Sportmedizin
https://www.readbyqxmd.com/read/28218388/the-new-neuromuscular-disease-related-with-defects-in-the-asc-1-complex-report-of-a-second-case-confirms-ascc1-involvement
#18
Jorge Oliveira, Márcia Martins, Rosário Pinto Leite, Mário Sousa, Rosário Santos
Next-generation sequencing technology aided the identification of the underlying genetic cause in a female newborn with a severe neuromuscular disorder. The patient presented generalized hypotonia, congenital bone fractures, lack of spontaneous movements and poor respiratory effort. She died within the first days of life. Karyotyping and screening for several genes related with neuromuscular diseases all tested negative. A male sibling was subsequently born with the same clinical presentation. Whole-exome sequencing was performed with variant filtering assuming a recessive disease model...
February 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28217183/affection-of-the-respiratory-muscles-in-combined-complex-i-and-iv-deficiency
#19
Josef Finsterer, Helmut Rauschka, Liane Segal, Gabor G Kovacs, Boris Rolinski
OBJECTIVES: Combined complex I+IV deficiency has rarely been reported to manifest with the involvement of the respiratory muscles. CASE REPORT: A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy...
2017: Open Neurology Journal
https://www.readbyqxmd.com/read/28210319/physiology-of-respiratory-disturbances-in-muscular-dystrophies
#20
Antonella Lo Mauro, Andrea Aliverti
Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e. when the respiratory system fails in its gas exchange functions, is a common feature in muscular dystrophy, being the main cause of death, and it is a consequence of lung failure, pump failure or a combination of the two. The former is due to recurrent aspiration, the latter to progressive weakness of respiratory muscles and an increase in the load against which they must contract...
December 2016: Breathe
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