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https://www.readbyqxmd.com/read/29451848/mr-imaging-of-atraumatic-muscle-disorders
#1
Edward Smitaman, Dyan V Flores, Catalina Mejía Gómez, Mini N Pathria
Atraumatic disorders of skeletal muscles include congenital variants; inherited myopathies; acquired inflammatory, infectious, or ischemic disorders; neoplastic diseases; and conditions leading to muscle atrophy. These have overlapping appearances at magnetic resonance (MR) imaging and are challenging for the radiologist to differentiate. The authors organize muscle disorders into four MR imaging patterns: (a) abnormal anatomy with normal signal intensity, (b) edema/inflammation, (c) mass, and (d) atrophy, highlighting each of their key clinical and imaging findings...
February 16, 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29448015/irregularity-and-lack-of-p-waves-in-short-tachycardia-episodes-predict-atrial-fibrillation-and-ischemic-stroke
#2
Linda S B Johnson, Anders P Persson, Per Wollmer, Steen Juul-Möller, Tord Juhlin, Gunnar Engström
BACKGROUND: Atrial fibrillation (AF) is defined as an irregular supraventricular tachycardia (SVT) without p-waves, with a duration >30s. It is not known whether AF characteristics in shorter SVT episodes predict AF and stroke. OBJECTIVES: To determine if irregularity and lack of p-waves, alone or in combination, at short SVT episodes increased the risk of incident AF and ischemic stroke. METHODS: The population-based Malmö Diet and Cancer study includes 24hECG screening of 377 AF-free individuals (mean age 64...
February 12, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29444278/effectiveness-of-modified-oral-steroid-administration-for-preventing-esophageal-stricture-after-entire-circumferential-endoscopic-submucosal-dissection
#3
T Iizuka, D Kikuchi, S Hoteya, M Kaise
Esophageal stricture occurs at a high rate after endoscopic submucosal dissection, especially after entire circumferential dissection, leading to poor quality of life. This retrospective cohort study evaluated the stricture rate in circumferential mucosal defect cases following modified steroid administration. We enrolled 22 consecutive patients who underwent entire circumferential endoscopic submucosal dissection for superficial esophageal cancer between April 2010 and April 2015 at our hospital. Until January 2013, a systemic steroid-prednisolone-was administered at 30 mg/day and tapered over 8 weeks in the original method group (original group)...
February 9, 2018: Diseases of the Esophagus: Official Journal of the International Society for Diseases of the Esophagus
https://www.readbyqxmd.com/read/29442027/the-effect-of-slco1b1-polymorphism-on-the-pharmacokinetics-of-atorvastatin-and-2-hydroxyatorvastatin-in-healthy-chinese-people
#4
Yaqin Wang, Yingying Tian, Peiyu Lv, Lulu Chen, Wei Luo, Xian Jing, Hui Li, Zhirong Tan, Yicheng Wang, Honghao Zhou, Dong-Sheng Ouyang
The pharmacokinetics of statins show substantial inter-subject variability. Increasing systemic exposure of statins may lead to adverse drug reactions such as myopathy. The variation in statin pharmacokinetics is partly explained by genetic factors. OATP1B1, coded by SLCO1B1 transports a large number of therapeutic drugs, such as atorvastatin. Here we investigated the effect of SLCO1B1 polymorphism on the pharmacokinetics of atorvastatin and its metabolites. Two pharmacokinetic studies were conducted in Chinese Han volunteers and 132 volunteers were enrolled in our study as 72 in trial 1 and 60 in trial 2...
June 1, 2017: Die Pharmazie
https://www.readbyqxmd.com/read/29439058/autoimmune-necrotising-myopathy-and-hmgcr-antibodies
#5
Kushan Karunaratne, Dimitri Amiras, Matthew C Pickering, Monika Hofer, Stuart Viegas
Statins lower serum cholesterol concentrations by inhibiting the enzyme 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR). Muscle side effects are relatively common and include asymptomatic elevation of serum creatine kinase (CK), myalgia, proximal muscle weakness and rhabdomyolysis. More recently, a subset of cases of immune-mediated necrotising myopathy has been found to have antibodies against HMGCR. It is often an aggressive and debilitating myopathy and has a complex pathogenesis characterised by fibre necrosis, usually with minimal associated inflammation...
February 8, 2018: Practical Neurology
https://www.readbyqxmd.com/read/29437287/novel-mutations-in-dnajb6-cause-lgmd1d-and-distal-myopathy-in-french-families
#6
Per H Jonson, Johanna Palmio, Mridul Johari, Sini Penttilä, Anni Evilä, Isabelle Nelson, Gisèle Bonne, Nicolas Wiart, Vincent Meyer, Anne Boland, Jean-François Deleuze, Cécile Masson, Tanya Stojkovic, Françoise Chapon, Norma B Romero, Guilhem Solé, Xavier Ferrer, Ana Ferreiro, Peter Hackman, Isabelle Richard, Bjarne Udd
BACKGROUND AND PURPOSE: To determine the genetic background of unknown muscular dystrophy in five French families. METHODS: Twelve patients with limb girdle muscular dystrophy or distal myopathy were clinically evaluated. Gene mutations were identified using targeted exon sequencing and mutated DNAJB6 was tested in vitro. RESULTS: Five patients presented with distal lower limb weakness while others had proximal presentation with variable rate of progression starting at the median age of 34...
February 13, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29437241/tenotomy-of-the-semitendinosus-muscle-under-standing-sedation-versus-general-anesthesia-outcomes-in-20-horses-with-fibrotic-myopathy
#7
David G Suarez-Fuentes, Dane M Tatarniuk, Stephanie S Caston, Kevin D Kersh, Alex M Gillen, Ashley M Hays
OBJECTIVE: To compare outcomes after semitendinosus tenotomy performed under standing sedation versus general anesthesia. STUDY DESIGN: Retrospective case series. SAMPLE POPULATION: 20 horses with fibrotic myopathy of the semitendinosus muscle. METHODS: Medical records (2002-2015) of horses undergoing tenotomy of the semitendinosus muscle for the treatment of fibrotic myopathy were reviewed. Signalment, history, affected muscles, restrain method, surgical procedures, and short-term outcome as well as complications were retrieved from records...
February 13, 2018: Veterinary Surgery: VS
https://www.readbyqxmd.com/read/29436205/fat1-gene-alteration-in-facioscapulohumeral-muscular-dystrophy-type-1
#8
Hyung Jun Park, Wookjae Lee, Se Hoon Kim, Jung Hwan Lee, Ha Young Shin, Seung Min Kim, Kee Duk Park, Ji Hyun Lee, Young Chul Choi
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array. Recent studies revealed that the FAT1 expression is associated with disease activity of FSHD, and the FAT1 alterations result in myopathy with a FSHD-like phenotype. We describe a 59-year-old woman with both contracted D4Z4 repeat units and a FAT1 mutation. Shoulder girdle muscle weakness developed at the age of 56 years, and was followed by proximal leg weakness. When we examined her at 59 years of age, she displayed asymmetric and predominant weakness of facial and proximal muscles...
March 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29435968/-a-new-phenotype-of-infantile-onset-pompe-disease
#9
A Nascimento, E Villalobos-Pinto
INTRODUCTION: Infantile-onset Pompe disease is a kind of glycogenosis resulting from a deficit of the enzyme acid alpha-glucosidase. Before specific enzyme replacement therapy (ERT) became available, the classic form was fatal during the first two years of life. ERT increases survival and improves cardiac, respiratory and motor functioning. CASE REPORTS: Case 1: 2-month-old infant with predominantly axial hypotonia who required the use of a nasogastric tube as a result of difficulties in sucking and swallowing...
February 16, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29435569/interpreting-genetic-variants-in-titin-in-patients-with-muscle-disorders
#10
Marco Savarese, Lorenzo Maggi, Anna Vihola, Per Harald Jonson, Giorgio Tasca, Lucia Ruggiero, Luca Bello, Francesca Magri, Teresa Giugliano, Annalaura Torella, Anni Evilä, Giuseppina Di Fruscio, Olivier Vanakker, Sara Gibertini, Liliana Vercelli, Alessandra Ruggieri, Carlo Antozzi, Helena Luque, Sandra Janssens, Maria Barbara Pasanisi, Chiara Fiorillo, Monika Raimondi, Manuela Ergoli, Luisa Politano, Claudio Bruno, Anna Rubegni, Marika Pane, Filippo M Santorelli, Carlo Minetti, Corrado Angelini, Jan De Bleecker, Maurizio Moggio, Tiziana Mongini, Giacomo Pietro Comi, Lucio Santoro, Eugenio Mercuri, Elena Pegoraro, Marina Mora, Peter Hackman, Bjarne Udd, Vincenzo Nigro
Importance: Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The interpretation of the numerous rare variants identified in TTN is a difficult challenge given its large size. Objective: To identify genetic variants in titin in a cohort of patients with muscle disorders. Design, Setting, and Participants: In this case series, 9 patients with titinopathy and 4 other patients with possibly disease-causing variants in TTN were identified...
February 12, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29434898/abt-737-and-pictilisib-synergistically-enhance-pitavastatin-induced-apoptosis-in-ovarian-cancer-cells
#11
Elizabeth De Wolf, Christopher De Wolf, Alan Richardson
There is considerable interest in redeploying drugs for use in combination with other oncology therapeutics. The single-agent activity of statins in ovarian cancer has been widely reported, however the drug concentration required to cause cell death is considerably higher than that achieved in patients receiving statin treatment for hypercholesterolemia. Unfortunately, statins can cause myopathy when administered in high doses. One solution to this is to identify drugs that could be used in combination with statins to reduce the dose required and those that may potentially reduce the incidence of adverse side effects...
February 2018: Oncology Letters
https://www.readbyqxmd.com/read/29433794/clinically-variable-nemaline-myopathy-in-a-three-generation-family-caused-by-mutation-of-the-skeletal-muscle-alpha-actin-gene
#12
Vilma-Lotta Lehtokari, Maria Gardberg, Katarina Pelin, Carina Wallgren-Pettersson
We present here a Finnish nemaline myopathy family with a dominant mutation in the skeletal muscle α-actin gene, p.(Glu85Lys), segregating in three generations. The index patient, a 5-year-old boy, had the typical form of nemaline myopathy with congenital muscle weakness and motor milestones delayed but reached, while his mother never had sought medical attention for her very mild muscle weakness, and his maternal grandmother had been misdiagnosed as having myotonic dystrophy. This illustrates the clinical variability in nemaline myopathy...
December 25, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29431050/tdp-43-post-translational-modifications-in-health-and-disease
#13
Emanuele Buratti
Nuclear factor TDP-43 is a ubiquitously expressed RNA binding protein that plays a key causative role in several neurodegenerative diseases, especially in the ALS/FTD spectrum. In addition, its aberrant aggregation and expression has been recently observed in other type of diseases, such as myopathies and Niemann-Pick C, a lysosomal storage disease. Areas Covered. This review aims to specifically cover the post-translational modifications (PTMs) that can affect TDP-43 function and cellular status both in health and disease...
February 10, 2018: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/29430446/models-of-disuse-muscle-atrophy-therapeutic-implications-in-critically-ill-patients
#14
REVIEW
Esther Barreiro
Skeletal muscle weakness is common in the intensive care units (ICU). Approximately 50% of patients under mechanical ventilation for more than 7 days show signs of ICU-acquired muscle weakness. In these patients, muscle weakness may be the result of axonal polyneuropathy, myopathy or a combination of both. The commonest risk factors in patients with ICU-acquired weakness (AW) are the severity and duration of the systemic inflammatory response, duration of the stay in the ICU and of mechanical ventilation, hyperglycemia, hypoalbuminemia, parenteral nutrition, and administration of corticosteroids and of neuromuscular blocking agents...
January 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/29429407/non-invasive-differentiation-of-idiopathic-inflammatory-myopathy-with-cardiac-involvement-from-acute-viral-myocarditis-using-cardiovascular-magnetic-resonance-imaging-t1-and-t2-mapping
#15
Adrian T Huber, Marine Bravetti, Jérôme Lamy, Tania Bacoyannis, Charles Roux, Alain de Cesare, Aude Rigolet, Olivier Benveniste, Yves Allenbach, Mathieu Kerneis, Philippe Cluzel, Nadjia Kachenoura, Alban Redheuil
BACKGROUND: Idiopathic inflammatory myopathy (IIM) is a group of autoimmune diseases with systemic myositis which may involve the myocardium. Cardiac involvement in IIM, although often subclinical, may mimic clinical manifestations of acute viral myocarditis (AVM). Our aim was to investigate the usefulness of the combined analysis of cardiovascular magnetic resonance (CMR) T1 and T2 mapping parameters measured both in the myocardium and in the thoracic skeletal muscles to differentiate AVM from IIM cardiac involvement...
February 12, 2018: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/29427184/polyneuropathy-and-myopathy-in-beta-thalassemia-major-patients
#16
P Nemtsas, M Arnaoutoglou, V Perifanis, E Koutsouraki, G Spanos, N Arnaoutoglou, P Chalkia, D Pantelidou, A Orologas
The thalassemias are the most common single gene disorder in the world. Nowadays, the average life expectancy of patients in developed countries has increased significantly, while, there was an increase of complications. We aimed to investigate peripheral neuropathy and myopathy in this patient group using a neurophysiological study. We performed nerve conduction studies and electromyography of upper and lower extremities on 36 beta-thalassemia major (β-thal) patients. The electrophysiological findings were correlated with demographic data and laboratory parameters of the disease...
February 9, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29424099/analysis-of-slco1b1-and-apoe-genetic-polymorphisms-in-a-large-ethnic-hakka-population-in-southern-china
#17
Zhixiong Zhong, Heming Wu, Bin Li, Cunren Li, Zhidong Liu, Min Yang, Qifeng Zhang, Wei Zhong, Pingsen Zhao
OBJECTIVE: Statins are the most widely used lipid-lowering drugs, which have a significant effect on the inhibition of cardiovascular disease. The efficacy and side effects of statins are associated with the polymorphisms of SLCO1B1 and APOE genes. The purpose of this study was to analyze the SLCO1B1 and APOE gene polymorphisms in the Hakka population of southern China. METHODS: A total of 3249 subjects including 2019 males and 1230 females participated in this study...
February 9, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29424033/mitochondrial-dysfunction-in-human-skeletal-muscle-biopsies-of-lipid-storage-disorder
#18
B Debashree, Manish Kumar, T S Keshava Prasad, Archana Natarajan, Rita Christopher, A Nalini, P S Bindu, N Gayathri, M M Srinivas Bharath
Mitochondria regulate the balance between lipid metabolism and storage in the skeletal muscle. Altered lipid transport, metabolism and storage influence the bioenergetics, redox status and insulin signalling contributing to cardiac and neurological diseases. Lipid storage disorders (LSDs) are neurological disorders which entail intramuscular lipid accumulation and impaired mitochondrial bioenergetics in the skeletal muscle causing progressive myopathy with muscle weakness. However, the mitochondrial changes including molecular events associated with impaired lipid storage have not been completely understood in the human skeletal muscle...
February 9, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29422440/gyg1-causing-progressive-limb-girdle-myopathy-with-onset-during-teenage-years-polyglucosan-body-myopathy-2
#19
Mahalekshmi Desikan, Renata Siciliani Scalco, Andreea Manole, Alice R Gardiner, Anthony H Schapira, Robin H Lachmann, Henry Houlden, Janice L Holton, Rahul Phadke, Ros Quinlivan
An 84-year-old lady with slowly progressive limb and axial muscle weakness with onset in her teens was referred for genetic investigations. Targeted next generation sequencing (NGS) revealed a homozygous mutation GYG1 in exon5:c.487delG:p.D163fs, confirming the diagnosis of Polyglucosan Body Myopathy 2 (PGBM2). Retrospective review of muscle pathology revealed a florid vacuolar myopathy with histochemical and ultrastructural features consistent with a polyglucosan storage myopathy. No cardiac symptoms were reported...
January 10, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29420541/genetic-compensation-triggered-by-actin-mutation-prevents-the-muscle-damage-caused-by-loss-of-actin-protein
#20
Tamar E Sztal, Emily A McKaige, Caitlin Williams, Avnika A Ruparelia, Robert J Bryson-Richardson
The lack of a mutant phenotype in homozygous mutant individuals' due to compensatory gene expression triggered upstream of protein function has been identified as genetic compensation. Whilst this intriguing process has been recognized in zebrafish, the presence of homozygous loss of function mutations in healthy human individuals suggests that compensation may not be restricted to this model. Loss of skeletal ∞-actin results in nemaline myopathy and we have previously shown that the pathological symptoms of the disease and reduction in muscle performance are recapitulated in a zebrafish antisense morpholino knockdown model...
February 8, 2018: PLoS Genetics
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