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https://www.readbyqxmd.com/read/28102838/autophagy-dysregulation-in-danon-disease
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
G Mazzanti, P A Moro, E Raschi, R Da Cas, F Menniti-Ippolito
BACKGROUND AND AIM: Red yeast rice (RYR) is contained in dietary supplements used in patients with dyslipidemia. RYR supplements contain monacolin K, which is chemically identical to lovastatin, a licensed drug with a well-known risk profile. We aimed 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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/28088340/the-role-of-magnetic-resonance-imaging-techniques-in-evaluation-and-management-of-the-idiopathic-inflammatory-myopathies
#15
REVIEW
Jessica Day, Sandy Patel, Vidya Limaye
Magnetic resonance imaging (MRI) is an important tool in the evaluation of neuromuscular disorders. MRI accurately demonstrates muscle oedema, atrophy, subcutaneous pathology and fatty infiltration and also highlights the distribution of muscle involvement. This review examines the role of MRI in evaluation of the idiopathic inflammatory myopathies (IIMs), a heterogeneous group of autoimmune conditions characterised by muscle inflammation and a variety of extra-muscular manifestations. MRI has a clear role in aiding diagnosis of these conditions, guiding muscle biopsy, differentiating subtypes of IIM using a pattern-based approach, and monitoring disease activity in a longitudinal fashion...
November 5, 2016: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28087121/upper-extremity-outcome-measures-for-collagen-vi-related-myopathy-and-lama2-related-muscular-dystrophy
#16
Roxanna M Bendixen, Jocelyn Butrum, Mina S Jain, Rebecca Parks, Bonnie Hodsdon, Carmel Nichols, Michelle Hsia, Leslie Nelson, Katherine C Keller, Michelle McGuire, Jeffrey S Elliott, Melody M Linton, Irene C Arveson, Fatou Tounkara, Ruhi Vasavada, Elizabeth Harnett, Monal Punjabi, Sandra Donkervoort, Jahannaz Dastgir, Meganne E Leach, Anne Rutkowski, Melissa Waite, James Collins, Carsten G Bönnemann, Katherine G Meilleur
Congenital muscular dystrophy (CMD) comprises a rare group of genetic muscle diseases that present at birth or early during infancy. Two common subtypes of CMD are collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). Traditional outcome measures in CMD include gross motor and mobility assessments, yet significant motor declines underscore the need for valid upper extremity motor assessments as a clinical endpoint. This study validated a battery of upper extremity measures in these two CMD subtypes for future clinical trials...
December 5, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28086790/rna-sequencing-for-global-gene-expression-associated-with-muscle-growth-in-a-single-male-modern-broiler-line-compared-to-a-foundational-barred-plymouth-rock-chicken-line
#17
Byung-Whi Kong, Nicholas Hudson, Dongwon Seo, Seok Lee, Bhuwan Khatri, Kentu Lassiter, Devin Cook, Alissa Piekarski, Sami Dridi, Nicholas Anthony, Walter Bottje
BACKGROUND: Modern broiler chickens exhibit very rapid growth and high feed efficiency compared to unselected chicken breeds. The improved production efficiency in modern broiler chickens was achieved by the intensive genetic selection for meat production. This study was designed to investigate the genetic alterations accumulated in modern broiler breeder lines during selective breeding conducted over several decades. METHODS: To identify genes important in determining muscle growth and feed efficiency in broilers, RNA sequencing (RNAseq) was conducted with breast muscle in modern pedigree male (PeM) broilers (n = 6 per group), and with an unselected foundation broiler line (Barred Plymouth Rock; BPR)...
January 13, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28079855/acute-sarcoid-myopathy-a-case-report-and-literature-review
#18
José Miguel Gómez-Verdú, Salvador Valero Cifuentes, Francisco Pastor Quirante, Francisco Román López-Andreu
Sarcoidosis is a worldwide spread disease with brad clinical spectrum, in which the pulmonary involvement is the main manifestation (more than 90% of cases); nevertheless, extrathoracic symptoms can predominate in the clinical picture and they may even be the first manifestation. One of them is the skeletal muscle involvement that normally is chronic and silent, with poor response to treatment with glucocorticoids. However, in some cases, it has an acute presentation. We present a case of a 61-year-old man with diagnosis of sarcoidosis whe were evaluated for proximal lower limb weakness within few days of evolution...
December 23, 2016: Sarcoidosis, Vasculitis, and Diffuse Lung Diseases: Official Journal of WASOG
https://www.readbyqxmd.com/read/28078562/myotonic-dystrophy-type-2-and-modifier-genes-an-update-on-clinical-and-pathomolecular-aspects
#19
REVIEW
Giovanni Meola, Rosanna Cardani
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. To date, two distinct forms caused by similar mutations in two different genes have been identified: myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2). Aberrant transcription and mRNA processing of multiple genes due to RNA-mediated toxic gain-of function has been suggested to cause the complex phenotype in DM1 and DM2. However, despite clinical and genetic similarities, DM1 and DM2 may be considered as distinct disorders...
January 11, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28078077/a-novel-method-for-the-quantification-of-fatty-infiltration-in-skeletal-muscle
#20
Nicole K Biltz, Gretchen A Meyer
BACKGROUND: Fatty infiltration of the skeletal muscle is a common but poorly understood feature of many myopathies. It is best described in human muscle, where non-invasive imaging techniques and representative histology have been optimized to view and quantify infiltrating fat. However, human studies are limited in their ability to identify cellular and molecular mechanisms regulating fatty infiltration, a likely prerequisite to developing targeted interventions. As mechanistic investigations move to small animals, studies may benefit from new or adapted imaging tools optimized for high resolution and whole muscle quantification...
2017: Skeletal Muscle
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