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https://www.readbyqxmd.com/read/28915335/ecm-related-myopathies-and-muscular-dystrophies-pros-and-cons-of-protein-therapies
#1
Pam M Van Ry, Tatiana M Fontelonga, Pamela Barraza-Flores, Apurva Sarathy, Andreia M Nunes, Dean J Burkin
Extracellular matrix (ECM) myopathies and muscular dystrophies are a group of genetic diseases caused by mutations in genes encoding proteins that provide critical links between muscle cells and the extracellular matrix. These include structural proteins of the ECM, muscle cell receptors, enzymes, and intracellular proteins. Loss of adhesion within the myomatrix results in progressive muscle weakness. For many ECM muscular dystrophies, symptoms can occur any time after birth and often result in reduced life expectancy...
September 12, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28914735/palliative-care-in-neuromuscular-diseases
#2
Marianne de Visser, David J Oliver
PURPOSE OF REVIEW: Palliative care is an approach that improves the quality of life of patients and their families facing the problem associated with life-threatening illness. Neuromuscular disorders (NMDs) are characterized by progressive muscle weakness, leading to pronounced and incapacitating physical disabilities. Most NMDs are not amenable to curative treatment and would thus qualify for palliative care. Amyotrophic lateral sclerosis is a relentlessly progressive disease, which leads to death about 2 years after onset due to respiratory muscle weakness...
September 13, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28905130/clinico-serologic-features-of-statin-induced-necrotising-autoimmune-myopathy-in-a-single-centre-cohort
#3
Michael J Waters, Vidya Limaye
Statin-induced necrotising autoimmune myopathy (NAM) is a rare but disabling complication of statin therapy. Data regarding treatment and outcomes in these patients is sparse. We retrospectively identified those patients with a diagnosis of statin-induced NAM who were managed in a single-tertiary referral centre from January 2014 to January 2017. Data regarding clinical features, serology, antibody status and functional outcome was collected. We identified 16 patients diagnosed with statin-induced NAM. Truncal weakness was present in 9/16 patients, of which one patient presented with camptocormia...
September 13, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28900936/metabolic-disorders-and-cancer-store-operated-ca-2-entry-in-cancer-focus-on-ip3r-mediated-ca-2-release-from-intracellular-stores-and-its-role-in-migration-and-invasion
#4
Abigaël Ritaine, George Shapovalov, Natalia Prevarskaya
Store-operated calcium entry (SOCE) plays important roles in a multitude of cellular processes, from muscle contraction to cellular proliferation and migration. Dysregulation of SOCE is responsible for the advancement of multiple diseases, ranging from immune diseases, myopathies, to terminal ones like cancer. Naturally, SOCE has been a focus of many studies and review papers which, however, primarily concentrated on the principal players localized to the plasma membrane and responsible for Ca(2+) entry into the cell...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28895244/identification-and-characterization-of-three-novel-mutations-in-the-casq1-gene-in-four-patients-with-tubular-aggregate-myopathy
#5
Virginia Barone, Valeria Del Re, Alessandra Gamberucci, Valentina Polverino, Lucia Galli, Daniela Rossi, Elisa Costanzi, Luana Toniolo, Gianna Berti, Alessandro Malandrini, Giulia Ricci, Gabriele Siciliano, Gaetano Vattemi, Giuliano Tomelleri, Enrico Pierantozzi, Simone Spinozzi, Nila Volpi, Rosella Fulceri, Roberto Battistutta, Carlo Reggiani, Vincenzo Sorrentino
Here we report the identification of three novel missense mutations in the calsequestrin-1 (CASQ1) gene in four patients with tubular aggregate myopathy. These CASQ1 mutations affect conserved amino acids in position 44 (p.(Asp44Asn)), 103 (p.(Gly103Asp)) and 385 (p.(Ile385Thr)). Functional studies, based on turbidity and dynamic light scattering measurements at increasing Ca(2+) concentrations, showed a reduced Ca(2+) -dependent aggregation for the CASQ1 protein containing p.Asp44Asn and p.Gly103Asp mutations and a slight increase in Ca(2+) -dependent aggregation for the p...
September 11, 2017: Human Mutation
https://www.readbyqxmd.com/read/28894550/evaluation-prevalence-of-pompe-disease-in-iranian-patients-with-myopathies-of-unknown-etiology
#6
Khadijeh Haji Naghi Tehrani, Elmira Sakhaeyan, Elnaz Sakhaeyan
BACKGROUND: Pompe disease is a rare but potentially treatable metabolic disorder having an estimated worldwide incidence of one in forty thousand live births. While the introduction of enzyme replacement therapy (ERT) has considerably increased the awareness of the disease, the delay in diagnosis is still consistent and most patients go undetected. OBJECTIVE: This study aimed to determine the prevalence of late-onset Pompe disease (LOPD) in a high-risk population, using dried blood spot (DBS) as a main screening tool...
July 2017: Electronic Physician
https://www.readbyqxmd.com/read/28893408/inflammatory-myopathy-associated-with-antimitochondrial-antibodies-a-distinct-phenotype-with-cardiac-involvement
#7
Jemima Albayda, Aamna Khan, Livia Casciola-Rosen, Andrea M Corse, Julie J Paik, Lisa Christopher-Stine
OBJECTIVE: In the context of clinical evaluations performed on our prospective myositis cohort, we noted a striking association of severe cardiac disease in myositis patients with antimitochondrial antibodies. We sought to review all cases of antimitochondrial antibody (AMA) associated myositis in our cohort to describe the clinical features of this disease subset. METHODS: We identified 7 patients with confirmed antimitochondrial antibodies who presented as an inflammatory myopathy...
June 13, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28889642/treating-pediatric-neuromuscular-disorders-the-future-is-now
#8
REVIEW
James J Dowling, Hernan D Gonorazky, Ronald D Cohn, Craig Campbell
Pediatric neuromuscular diseases encompass all disorders with onset in childhood and where the primary area of pathology is in the peripheral nervous system. These conditions are largely genetic in etiology, and only those with a genetic underpinning will be presented in this review. This includes disorders of the anterior horn cell (e.g., spinal muscular atrophy), peripheral nerve (e.g., Charcot-Marie-Tooth disease), the neuromuscular junction (e.g., congenital myasthenic syndrome), and the muscle (myopathies and muscular dystrophies)...
September 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28884981/ultrastructural-changes-in-skeletal-muscle-of-infants-with-mitochondrial-respiratory-chain-complex-i-defects
#9
Ji Young Mun, Min Kyo Jung, Se Hoon Kim, Soyong Eom, Sung Sik Han, Young Mock Lee
BACKGROUND AND PURPOSE: The pathogenesis of mitochondrial disease (MD) involves the disruption of cellular energy metabolism, which results from defects in the mitochondrial respiratory chain complex (MRC). We investigated whether infants with MRC I defects showed ultrastructural changes in skeletal muscle. METHODS: Twelve infants were enrolled in this study. They were initially evaluated for unexplained neurodegenerative symptoms, myopathies, or other progressive multiorgan involvement, and underwent muscle biopsies when MD was suspected...
September 4, 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28881388/autosomal-dominant-calpainopathy-due-to-heterozygous-capn3-c-643_663del21
#10
Jennifer M Martinez-Thompson, Zhiyv Niu, Jennifer A Tracy, Steven A Moore, Andrea Swenson, Eric D Wieben, Margherita Milone
INTRODUCTION: A calpain-3 (CAPN3) gene heterozygous deletion (c.643_663del21) was recently linked to autosomal dominant (AD) limb girdle muscular dystrophy. However, the possibility of digenic disease was raised. We describe three families with AD calpainopathy carrying this isolated mutation. METHODS: Probands heterozygous for CAPN3 c.643_663del21 were identified by targeted next generation or whole exome sequencing. Clinical findings were collected for probands and families...
September 7, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28879684/epigenetic-regulation-of-sirt1-induced-skeletal-muscle-mass-exercise-and-heart-diseases
#11
Tiago Fernandes, João Lucas P Gomes, André C Silveira
Skeletal myopathy is commonly recognized as a major cause of exercise intolerance in cardiac diseases such as chronic heart failure; which contributes to increased morbidity and mortality. This article is protected by copyright. All rights reserved.
September 6, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28860475/long-term-pgc1%C3%AE-overexpression-leads-to-apoptosis-autophagy-and-muscle-wasting
#12
Danesh H Sopariwala, Vikas Yadav, Pierre-Marie Badin, Neah Likhite, Megha Sheth, Sabina Lorca, Isabelle K Vila, Eun Ran Kim, Qingchun Tong, Min Sup Song, George G Rodney, Vihang A Narkar
Skeletal muscle wasting is prevalent in many chronic diseases, necessitating inquiries into molecular regulation of muscle mass. Nuclear receptor co-activator peroxisome proliferator-activated receptor co-activator 1 alpha (PGC1α) and its splice variant PGC1α4 increase skeletal muscle mass. However, the effect of the other PGC1 sub-type, PGC1β, on muscle size is unclear. In transgenic mice selectively over-expressing PGC1β in the skeletal muscle, we have found that PGC1β progressively decreases skeletal muscle mass predominantly associated with loss of type 2b fast-twitch myofibers...
August 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28857949/immune-mediated-necrotizing-myopathy-associated-with-statins-history-and-recent-developments
#13
Eleni Tiniakou, Lisa Christopher-Stine
PURPOSE OF REVIEW: The use of statins has increased exponentially over the last 2 decades. Consequently, side effects have also increased, with muscle-related side effects commonly reported. RECENT FINDINGS: Although once thought to be only associated with self-limited direct myotoxicity, statins have recently been described in association with an autoimmune myopathy in association with antibodies directed against 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), the rate limiting enzyme in cholesterol synthesis and the pharmacologic target of statins...
August 28, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28855175/infections-and-respiratory-tract-disease-as-risk-factors-for-idiopathic-inflammatory-myopathies-a-population-based-case-control-study
#14
John Svensson, Marie Holmqvist, Ingrid E Lundberg, Elizabeth V Arkema
OBJECTIVES: To investigate the association between infection or respiratory tract disease and future risk of developing idiopathic inflammatory myopathy (IIM). METHODS: A case-control study was performed using Swedish nationwide registers. Adults with newly diagnosed IIM were identified (2002-2011) from the National Patient Register (NPR) and the Swedish Rheumatology Register (n=957). Controls were matched by age, sex and place of residence (n=9476). Outpatient visits and hospitalisations preceding IIM diagnosis indicating infection or respiratory disease were identified from NPR...
August 30, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28846683/acylcarnitines-profile-best-predicts-survival-in-horses-with-atypical-myopathy
#15
François Boemer, Johann Detilleux, Christophe Cello, Hélène Amory, Christel Marcillaud-Pitel, Eric Richard, Gaby van Galen, Gunther van Loon, Laurence Lefère, Dominique-Marie Votion
Equine atypical myopathy (AM) is caused by hypoglycin A intoxication and is characterized by a high fatality rate. Predictive estimation of survival in AM horses is necessary to prevent unnecessary suffering of animals that are unlikely to survive and to focus supportive therapy on horses with a possible favourable prognosis of survival. We hypothesized that outcome may be predicted early in the course of disease based on the assumption that the acylcarnitine profile reflects the derangement of muscle energetics...
2017: PloS One
https://www.readbyqxmd.com/read/28842446/a-natural-history-study-of-x-linked-myotubular-myopathy
#16
Kimberly Amburgey, Etsuko Tsuchiya, Sabine de Chastonay, Michael Glueck, Rachel Alverez, Cam-Tu Nguyen, Anne Rutkowski, Joseph Hornyak, Alan H Beggs, James J Dowling
OBJECTIVE: To define the natural history of X-linked myotubular myopathy (MTM). METHODS: We performed a cross-sectional study that included an online survey (n = 35) and a prospective, 1-year longitudinal investigation using a phone survey (n = 33). RESULTS: We ascertained data from 50 male patients with MTM and performed longitudinal assessments on 33 affected individuals. Consistent with existing knowledge, we found that MTM is a disorder associated with extensive morbidities, including wheelchair (86...
August 25, 2017: Neurology
https://www.readbyqxmd.com/read/28841698/long-term-follow-up-of-mri-changes-in-thigh-muscles-of-patients-with-facioscapulohumeral-dystrophy-a-quantitative-study
#17
Farzad Fatehi, Emmanuelle Salort-Campana, Arnaud Le Troter, Emilie Lareau-Trudel, Mark Bydder, Alexandre Fouré, Maxime Guye, David Bendahan, Shahram Attarian
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common hereditary muscular disorders. Currently FSHD has no known effective treatment and detailed data on the natural history are lacking. Determination of the efficacy of a given therapeutic approach might be difficult in FSHD given the slow and highly variable disease progression. Magnetic resonance imaging (MRI) has been widely used to qualitatively and quantitatively evaluate in vivo the muscle alterations in various neuromuscular disorders...
2017: PloS One
https://www.readbyqxmd.com/read/28841590/cardiovascular-involvement-in-myositis
#18
Louise P Diederichsen
PURPOSE OF REVIEW: The purpose of this review is to provide an update on cardiovascular involvement in idiopathic inflammatory myopathy (IIM). Studies from the past 18 months are identified and reviewed. Finally, the clinical impact of these findings is discussed. RECENT FINDINGS: Epidemiological studies have revealed an increased risk of myocardial infraction and venous thromboembolism (VTE) - including deep venous thrombosis and pulmonary embolism - in adults with polymyositis or dermatomyositis compared to the general population, even after adjustment for potential confounders...
August 24, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28837505/diagnostic-criteria-of-pediatric-intestinal-myopathies
#19
Laura Lombardi, Elisabeth Bruder, Luca Pio, Paolo Nozza, Elena Thai, Margherita Lerone, Carmine Del Rossi, Girolamo Mattioli, Enrico Maria Silini, Irene Paraboschi, Giuseppe Martucciello
The authors aim to identify criteria for the diagnosis of Intestinal Visceral Myopathy (IVM), results were compared with ultrastructural studies (US). Six IVM patients and 7 paediatric control cases (without gastrointestinal diseases) were studied. One case was a typical Megacystis-Mycrocolon-Intestinal Hypoperistalsis Syndrome (MMIHS). The diagnostic path included: Rectal Suction Biopsy, One-Trocar Transumbilical Laparoscopic intestinal full-thickness Biopsy technique (OTTLB). Pathological analysis included anti-alpha smooth muscle actin staining, and US study of intestinal biopsies...
August 23, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28832912/screening-for-late-onset-pompe-disease-in-western-denmark
#20
J S Hansen, E G Pedersen, D Gaist, F W Bach, O J Vilholm, B Sandal, L Weitemeyer, K Nielsen, F E Schlesinger, N Preisler, J Vissing, H Andersen
OBJECTIVE: Late-onset Pompe disease (LOPD) is a rare autosomal recessively inherited metabolic myopathy caused by reduced activity of the lysosomal enzyme alpha-glucosidase. In a previous screening study at two large neuromuscular university clinics in Denmark, three patients with LOPD were identified out of 103 patients screened. No systematic screening has been performed at the other neurological departments in the western part of Denmark. Thus, patients with a diagnosis of unspecified myopathy were screened for LOPD...
August 22, 2017: Acta Neurologica Scandinavica
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