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https://www.readbyqxmd.com/read/28108547/characterising-the-difference-in-electrophysiological-substrate-and-outcomes-between-heart-failure-and-non-heart-failure-patients-with-persistent-atrial-fibrillation
#1
Shouvik K Haldar, David G Jones, Habib Khan, Sandeep Panikker, Julian W E Jarman, Charlie Butcher, Eric Lim, Gareth Wynn, Dhiraj Gupta, Wajid Hussain, Vias Markides, Tom Wong
AIMS: Characterizing the differences in substrate and clinical outcome between heart failure (HF) and non-heart failure (non-HF) patients undergoing persistent atrial fibrillation (AF) ablation. METHODS AND RESULTS: Using complex fractionated electrograms (CFE) as a surrogate marker of substrate complexity, we compared the bi-atrial substrate in patients with persistent AF with and without HF, at baseline and after ablation, to determine its impact on clinical outcome...
January 20, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28106831/ablation-of-protein-kinase-ck2%C3%AE-in-skeletal-muscle-fibers-interferes-with-their-oxidative-capacity
#2
Nane Eiber, Luca Simeone, Said Hashemolhosseini
The tetrameric protein kinase CK2 was identified playing a role at neuromuscular junctions by studying CK2β-deficient muscle fibers in mice, and in cultured immortalized C2C12 muscle cells after individual knockdown of CK2α and CK2β subunits. In muscle cells, CK2 activity appeared to be at least required for regular aggregation of nicotinic acetylcholine receptors, which serves as a hallmark for the presence of a postsynaptic apparatus. Here, we set out to determine whether any other feature accompanies CK2β-deficient muscle fibers...
January 19, 2017: Pharmaceuticals
https://www.readbyqxmd.com/read/28106564/andersen-tawil-syndrome-with-early-onset-myopathy-2-cases
#3
Gokcen Oz Tuncer
No abstract text is available yet for this article.
January 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28106121/endoplasmic-reticulum-oxidative-stress-triggers-tgf-beta-dependent-muscle-dysfunction-by-accelerating-ascorbic-acid-turnover
#4
Diego Pozzer, Mariagrazia Favellato, Marco Bolis, Roberto William Invernizzi, Francesca Solagna, Bert Blaauw, Ester Zito
Endoplasmic reticulum (ER) and oxidative stress are two related phenomena that have important metabolic consequences. As many skeletal muscle diseases are triggered by oxidative stress, we explored the chain of events linking a hyperoxidized ER (which causes ER and oxidative stress) with skeletal muscle dysfunction. An unbiased exon expression array showed that the combined genetic modulation of the two master ER redox proteins, selenoprotein N (SEPN1) and endoplasmic oxidoreductin 1 (ERO1), led to an SEPN1-related myopathic phenotype due to excessive signalling of transforming growth factor (TGF)-beta...
January 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28104817/dysferlin-mediates-membrane-tubulation-and-links-t-tubule-biogenesis-to-muscular-dystrophy
#5
Julia Hofhuis, Kristina Bersch, Ronja Büssenschütt, Marzena Drzymalski, David Liebetanz, Viacheslav O Nikolaev, Stefan Wagner, Lars S Maier, Jutta Gärtner, Lars Klinge, Sven Thoms
The multi-C2 domain protein dysferlin localizes to the plasma membrane and the T-tubule system in skeletal muscle, however, its physiological mode of action is unknown. Mutations in the DYSF gene lead to autosomal recessive limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Here we show that dysferlin has membrane tubulating capacity and that it shapes the T-tubule system. Dysferlin tubulates liposomes, generates a T-tubule-like membrane system in non-muscle cells, and links the recruitment of phosphatidylinositol 4,5-bisphosphate to the biogenesis of the T-tubule system...
January 19, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28104788/myo18b-is-essential-for-sarcomere-assembly-in-fast-skeletal-muscle
#6
Joachim Berger, Silke Berger, Mei Li, Peter D Currie
Congenital myopathies are muscle degenerative disorders with a broad clinical spectrum. A number of myopathies have been associated with molecular defects within sarcomeres, the force-generating component of the muscle cell. Whereas the highly regular organization of the myofibril has been studied in detail, in vivo assembly of sarcomeres remains a poorly understood process. Therefore, a more detailed knowledge of sarcomere assembly is crucial to better understand the pathogenic mechanisms within myopathies...
January 18, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28102838/autophagy-dysregulation-in-danon-disease
#7
Anna Chiara Nascimbeni, Marina Fanin, Corrado Angelini, Marco Sandri
The autophagy-lysosome system is critical for muscle homeostasis and defects in lysosomal function result in a number of inherited muscle diseases, generally referred to as autophagic vacuolar myopathies (AVMs). Among them, Danon Disease (DD) and glycogen storage disease type II (GSDII) are due to primary lysosomal protein defects. DD is characterized by mutations in the lysosome-associated membrane protein 2 (LAMP2) gene. The DD mouse model suggests that inefficient lysosome biogenesis/maturation and impairment of autophagosome-lysosome fusion contribute to the pathogenesis of muscle wasting...
January 19, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28102454/muscle-mri-in-pediatrics-clinical-pathological-and-genetic-correlation
#8
Claudia P Cejas, Maria M Serra, David F Gonzalez Galvez, Eliana A Cavassa, Ana L Taratuto, Gabriel A Vazquez, Mario E L Massaro, Angeles V Schteinschneider
Pediatric myopathies comprise a very heterogeneous group of disorders that may develop at different ages and affect different muscle groups. Its diagnosis is sometimes difficult and must be confirmed by muscle biopsy and/or genetic analysis. In recent years, muscle involvement patterns observed on MRI have become a valuable tool, aiding clinical diagnosis and enriching pathological and genetic assessments. We selected eight myopathy cases from our institutional database in which the pattern of muscle involvement observed on MRI was almost pathognomonic and could therefore contribute to establishing diagnosis...
January 19, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28101185/hypokalemic-myopathy-in-primary-aldosteronism-a-case-report
#9
Chuifen Wu, Jun Xin, Minghua Xin, Hai Zou, Lie Jing, Caoyong Zhu, Wenhui Lei
Primary aldosteronism (PA) is a rare disorder. The majority of patients with PA present with typical features and are easily diagnosed. This disorder is usually diagnosed with hypokalemia, hypertension or an adrenal mass. However, patients with atypical symptoms may present a challenge for diagnosis and treatment. In the present study, a case of PA is described that presented with hypokalemic myopathy simulating polymyositis. The patient was a 44-year-old woman who presented with weakness and difficulty walking...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28101144/histopathological-findings-in-systemic-sclerosis-related-myopathy-fibrosis-and-microangiopathy-with-lack-of-cellular-inflammation
#10
Claudio Corallo, Maurizio Cutolo, Nila Volpi, Daniela Franci, Margherita Aglianò, Antonio Montella, Chiara Chirico, Stefano Gonnelli, Ranuccio Nuti, Nicola Giordano
OBJECTIVES: The objective of this study was to identify specific histopathological features of skeletal muscle involvement in systemic sclerosis (SSc) patients. METHODS: A total of 35 out of 112 SSc-patients (32%, including 81% female and 68% diffuse scleroderma) presenting clinical, biological and electromyographic (EMG) features of muscle weakness, were included. Patients underwent vastus lateralis biopsy, assessed for individual pathologic features including fibrosis [type I collagen (Coll-I), transforming growth factor β (TGF-β)], microangiopathy [cluster of differentiation 31 (CD31), pro-angiogenic vascular endothelial growth factor A (VEGF-A), anti-angiogenic VEGF-A165b], immune/ inflammatory response [CD4, CD8, CD20, human leucocyte antigens ABC (HLA-ABC)], and membranolytic attack complex (MAC)...
January 2017: Therapeutic Advances in Musculoskeletal Disease
https://www.readbyqxmd.com/read/28099567/muscle-biopsy-with-dystrophic-pattern-and-rimmed-vacuoles-gne-myopathy-in-a-brazilian-patient
#11
Eduardo de Paula Estephan, Cristiane Araújo Martins Moreno, André Macedo Serafim da Silva, Rodrigo de Holanda Mendonça, Osório Abath, Patrícia Yoshi Nishimura, Layla Testa Galindo, Edmar Zanoteli
No abstract text is available yet for this article.
January 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28099331/atorvastatin-induced-necrotizing-autoimmune-myositis-an-emerging-dominant-entity-in-patients-with-autoimmune-myositis-presenting-with-a-pure-polymyositis-phenotype
#12
Yves Troyanov, Océane Landon-Cardinal, Marvin J Fritzler, José Ferreira, Ira N Targoff, Eric Rich, Michelle Goulet, Jean-Richard Goulet, Josiane Bourré-Tessier, Yves Robitaille, Julie Drouin, Alexandra Albert, Jean-Luc Senécal
The general aim of this study was to evaluate the disease spectrum in patients presenting with a pure polymyositis (pPM) phenotype. Specific objectives were to characterize clinical features, autoantibodies (aAbs), and membrane attack complex (MAC) in muscle biopsies of patients with treatment-responsive, statin-exposed necrotizing autoimmune myositis (NAM). Patients from the Centre hospitalier de l'Université de Montréal autoimmune myositis (AIM) Cohort with a pPM phenotype, response to immunosuppression, and follow-up ≥3 years were included...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28097933/inflammatory-myopathy-in-a-patient-with-collagen-vi-mutations
#13
R Papa, C Fiorillo, C Malattia, F Minoia, R Caorsi, S Assereto, M Iacomino, M Savarese, V Nigro, C Bruno, C Minetti, P Picco
No abstract text is available yet for this article.
January 18, 2017: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/28096458/more-severe-disease-and-slower-recovery-in-younger-patients-with-anti-3-hydroxy-3-methylglutaryl-coenzyme-a-reductase-associated-autoimmune-myopathy
#14
Eleni Tiniakou, Iago Pinal-Fernandez, Thomas E Lloyd, Jemima Albayda, Julie Paik, Jessie L Werner, Cassie A Parks, Livia Casciola-Rosen, Lisa Christopher-Stine, Andrew L Mammen
OBJECTIVE: To study disease severity and response to therapy in a large cohort of patients with anti-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR)-associated myositis. METHODS: Muscle strength, creatine kinase levels and treatments were assessed in anti-HMGCR-positive patients at each clinical visit. Univariate and multivariate analyses were used to analyse the influence of clinical characteristics on strength and the change in strength over time. Whole exome sequencing was performed in a subset of patients...
January 17, 2017: Rheumatology
https://www.readbyqxmd.com/read/28093797/adverse-reactions-to-dietary-supplements-containing-red-yeast-rice-assessment-of-cases-from-the-italian-surveillance-system
#15
Gabriela Mazzanti, Paola Angela Moro, Emanuel Raschi, Roberto Da Cas, Francesca Menniti-Ippolito
AIMS: Red yeast rice (RYR) is contained in dietary supplements for patients with dyslipidemia. RYR supplements contain monacolin K, which is chemically identical to lovastatin, a licensed drug with a well-known risk profile. We aim to describe the safety profile of RYR by analysing spontaneous reports of suspected adverse reactions (ARs). METHODS: Within the Italian Surveillance System of Natural Health Products, suspected ARs were collected and evaluated by a multidisciplinary group of experts to assess causality using the WHO-UMC system or the CIOMS/RUCAM score, for hepatic reactions...
January 17, 2017: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28092275/mechanistic-insights-from-combining-genomics-with-metabolomics
#16
Fotios Drenos
PURPOSE OF REVIEW: Metabolomics directly measure substrates and products of biological processes and pathways. Based on instrumentation and throughput advances, the use of metabolomics has only recently become feasible at the population level. This has led to an intense interest in using the new information in combination with genomics, and other omics technologies, to give biological context to the rapidly accumulating associations between genes and diseases or their risk factors. RECENT FINDINGS: The use of metabolomics-genomic associations for the metabolic characterization of genes of interest has confirmed known pathways and permitted the identification of new ones...
January 13, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28091404/left-atrial-mechanical-function-and-aortic-stiffness-in-middle-aged-patients-with-the-first-episode-of-atrial-fibrillation
#17
Alev Kilicgedik, Suleyman Ç Efe, Ahmet S Gürbüz, Emrah Acar, Mehmet F Yılmaz, Aslan Erdoğan, Gökhan Kahveci, Ibrahim A Izgi, Cevat Kirma
BACKGROUND: In the early stages of atrial remodeling, aortic stiffness might be an indication of an atrial myopathy, in particular, atrial fibrosis. This study aimed to investigate the association between left atrial (LA) mechanical function, assessed by two-dimensional speckle tracking echocardiography, and aortic stiffness in middle-aged patients with the first episode of nonvalvular atrial fibrillation (AF). METHODS: This prospective study included 34 consecutive patients with the first episode of AF, who were admitted to Kartal Koşuyolu Research and Training Hospital between May 2013 and October 2015, and 31 age- and gender-matched healthy controls...
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28091345/propofol-as-a-risk-factor-for-icu-acquired-weakness-in-septic-patients-with-acute-respiratory-failure
#18
Peter A Abdelmalik, Goran Rakocevic
BACKGROUND: Critical illness polyneuropathy (CIN) and critical illness myopathy (CIM), together "ICU-Acquired weakness (ICUAW)," occur frequently in septic patients. One of the proposed mechanisms for ICUAW includes prolonged inactivation of sodium channels. Propofol, used commonly in patients with acute respiratory failure (ARF), primarily acts via enhancement of GABAergic transmission but may also increase sodium channel inactivation, suggesting a potential interaction. METHODS: Electronic medical records and EMG reports of patients with ICUAW and a diagnosis of either sepsis, septicaemia, severe sepsis, or septic shock, concurrent with a diagnosis of acute respiratory failure (ARF), were retrospectively analyzed in a single center university hospital...
January 16, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28090731/addition-of-ezetimibe-to-statins-for-patients-at-high-cardiovascular-risk-systematic-review-of-patient-important-outcomes
#19
REVIEW
Yutong Fei, Gordon Henry Guyatt, Paul Elias Alexander, Regina El Dib, Reed A C Siemieniuk, Per Olav Vandvik, Mark E Nunnally, Huda Gomaa, Rebecca L Morgan, Arnav Agarwal, Ying Zhang, Neera Bhatnagar, Frederick A Spencer
Ezetimibe is widely used in combination with statins to reduce low-density lipoprotein. We sought to examine the impact of ezetimibe when added to statins on patient-important outcomes. Medline, EMBASE, CINAHL, and CENTRAL were searched through July, 2016. Randomized controlled trials (RCTs) of ezetimibe combined with statins versus statins alone that followed patients for at least 6 months and reported on at least one of all-cause mortality, cardiovascular deaths, non-fatal myocardial infarctions (MI), and non-fatal strokes were included...
January 16, 2017: Journal of Evaluation in Clinical Practice
https://www.readbyqxmd.com/read/28089741/inflammatory-myopathy-in-a-patient-with-aicardi-gouti%C3%A3-res-syndrome
#20
Birutė Tumienė, Norine Voisin, Eglė Preikšaitienė, Donatas Petroška, Jurgita Grikinienė, Rūta Samaitienė, Algirdas Utkus, Alexandre Reymond, Vaidutis Kučinskas
Aicardi-Goutières syndrome (AGS) is an inflammatory disorder belonging to the recently characterized group of type I interferonopathies. The most consistently affected tissues in AGS are the central nervous system and skin, but various organ systems and tissues have been reported to be affected, pointing to the systemic nature of the disease. Here we describe a patient with AGS due to a homozygous p.Arg114His mutation in the TREX1 gene. The histologically proven inflammatory myopathy in our patient expands the range of clinical features of AGS...
January 9, 2017: European Journal of Medical Genetics
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