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myopathies review

Solveig Baltzer Nielsen, Sharleny Stanislaus, Kari Saunamäki, Carsten Grøndahl, Jytte Banner, Martin Balslev Jørgensen
In this review it is discussed if acute stress can be fatal. The review is based on literature searches on PubMed, PsycINFO as well as Web of Science. Literature concerning the conditions excited delirium syndrome (ExDS), malignant catatonia, takotsubo cardiomyopathy (TCM), and capture myopathy (CM) is reviewed and compared. The aim of the article is to identify and discuss a possible fatalness as well as a common pathophysiology behind these conditions. This includes a deregulated autonomic nervous system, neurocardiac reasons for myocardial damage, and rhabdomyolysis...
February 15, 2019: Stress: the International Journal on the Biology of Stress
Júlio Brandão Guimarães, Marcelo A Nico, Alípio G Omond, Laís Uyeda Aivazoglou, Rafael Baches Jorge, Edmar Zanoteli, Artur R C Fernandes
PURPOSE OF REVIEW: The purpose of this review article is to highlight the current role of diagnostic imaging in the assessment of inflammatory myopathies. RECENT FINDINGS: Recent research demonstrates that imaging plays an important role in evaluating patients with symptoms of an inflammatory myopathy. In general, MRI is the pivotal imaging modality for assessing inflammatory myopathies, revealing precise anatomic details because of changes in the signal intensity of the muscles...
February 14, 2019: Current Rheumatology Reports
Stuart H Ralston, J Paul Taylor
Several rare inherited disorders have been described that show phenotypic overlap with Paget's disease of bone (PDB) and in which PDB is a component of a multisystem disorder affecting muscle and the central nervous system. These conditions are the subject of this review article. Insertion mutations within exon 1 of the TNFRSF11A gene, encoding the receptor activator of nuclear factor kappa B (RANK), cause severe PDB-like disorders including familial expansile osteolysis, early-onset familial PDB and expansile skeletal hyperphosphatasia...
February 13, 2019: Calcified Tissue International
N Ferdowsi, W Stevens, M Baron, M Nikpour
OBJECTIVE: To review the current literature, and evaluate the psychometric properties of disease damage indices in rheumatic diseases. METHODS: A search of Medline, EMBASE, and Cochrane Library databases was performed to June 2018 to identify damage indices in all systemic rheumatic diseases. Articles were included in a systematic review if indices were composite (multi-organ) in nature and if adequate detail on methodology was described. Articles pertaining to the validation of these indices were also reviewed in order to assess the psychometric properties of the indices using the Outcome Measures in Rheumatology Arthritis Clinical Trials (OMERACT) filter as a guide...
January 17, 2019: Seminars in Arthritis and Rheumatism
Shibani Kanungo, Kimberly Wells, Taylor Tribett, Areeg El-Gharbawy
Glucose is the main energy fuel for the human brain. Maintenance of glucose homeostasis is therefore, crucial to meet cellular energy demands in both - normal physiological states and during stress or increased demands. Glucose is stored as glycogen primarily in the liver and skeletal muscle with a small amount stored in the brain. Liver glycogen primarily maintains blood glucose levels, while skeletal muscle glycogen is utilized during high-intensity exertion, and brain glycogen is an emergency cerebral energy source...
December 2018: Annals of Translational Medicine
Henock G Yebyo, Hélène E Aschmann, Marco Kaufmann, Milo A Puhan
The current guidelines of statins for primary cardiovascular disease (CVD) prevention were based on results from systematic reviews and meta-analyses that suffer from limitations. METHODS: We searched in PubMed for existing systematic reviews and individual open-label or double-blinded randomized controlled trials that compared a statin with a placebo or another, which were published in English until January 01, 2018. We performed a random-effect pairwise meta-analysis of all statins as a class and network meta-analysis for the specific statins on different benefit and harm outcomes...
January 10, 2019: American Heart Journal
Massimiliano Filosto, Stefano Cotti Piccinelli, Costanza Lamperti, Tiziana Mongini, Serenella Servidei, Olimpia Musumeci, Paola Tonin, Filippo Maria Santorelli, Costanza Simoncini, Guido Primiano, Liliana Vercelli, Anna Rubegni, Anna Galvagni, Maurizio Moggio, Giacomo Pietro Comi, Valerio Carelli, Antonio Toscano, Alessandro Padovani, Gabriele Siciliano, Michelangelo Mancuso
Muscle pain may be part of many neuromuscular disorders including myopathies, peripheral neuropathies and lower motor neuron diseases. Although it has been reported also in mitochondrial diseases (MD), no extensive studies in this group of diseases have been performed so far. We reviewed clinical data from 1398 patients affected with mitochondrial diseases listed in the database of the "Nation-wide Italian Collaborative Network of Mitochondrial Diseases", to assess muscle pain and its features. Muscle pain was present in 164 patients (11...
February 2, 2019: Journal of Neurology
Yi Tang, Qi Qin, Yi Xing, Dongmei Guo, Li Di, Jianping Jia
BACKGROUND: Mutations in the mitochondrial alanyl-transfer (t)RNA synthetase 2 (AARS2,OMIM:612035) have been linked to leukoencephalopathy recently. Till now, there have been 19 cases reported so far. However, the clinical and genetic characteristics of this disease are not fully understood. We reported an adult-onset male leukoencephalopathy patient related to novel AARS2 gene mutations and reviewed all previous cases regarding the clinical and genetic features of AARS2 leukoencephalopathy...
January 31, 2019: Molecular Genetics & Genomic Medicine
Kazuhiko Kido, Austin A Oyen, Morgan A Beckmann, Sara D Brouse
Purpose: This article evaluates the musculoskeletal safety of concomitant therapy with daptomycin and Hydroxymethylglutaryl-coenzyme A (HMG CoA) reductase inhibitors (statins). Summary: Often indicated for severe gram-positive infections, daptomycin is commonly administered with statins but there is limited guidance on the appropriate management of concomitant therapy with daptomycin and statins. A narrative review was conducted to review contemporary clinical evidence of the safety of concomitant therapy with daptomycin and statins...
January 21, 2019: American Journal of Health-system Pharmacy: AJHP
Gerardo Gutiérrez Gutiérrez, Jordi Díaz-Manera, Míriam Almendrote, Sharona Azriel, José Eulalio Bárcena, Pablo Cabezudo García, Ana Camacho Salas, Carlos Casanova Rodríguez, Ana María Cobo Esteban, Patricia Díaz Guardiola, Roberto Fernández-Torrón, María Pía Gallano Petit, Pablo García Pavía, María Gómez Gallego, Antonio José Gutiérrez Martínez, Ivonne Jericó, Solange Kapetanovic García, Adolfo López de Munaín Arregui, Loreto Martorell, Germán Morís de la Tassa, Raúl Moreno Zabaleta, José Luis Muñoz-Blanco, Juana Olivar Roldán, Samuel Ignacio Pascual Pascual, Rafael Peinado Peinado, Helena Pérez, Juan José Poza Aldea, María Rabasa, Alba Ramos, Alfredo Rosado Bartolomé, Miguel Ángel Rubio Pérez, Jon Andoni Urtizberea, Gustavo Zapata-Wainberg, Eduardo Gutiérrez-Rivas
BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1...
January 23, 2019: Medicina Clínica
Stefan J Marciniak
This Special Issue comprises eleven excellent reviews that illustrate the role of ER stress in different human diseases, including myopathies and lung diseases, as well as in modulating liver dysfunction and inflammatory responses. These reviews also highlight the function of the UPR in neurodegenerative disorders and cancer, while discussing the potential benefits of targeting the UPR as a therapeutic approach. We hope you find these reviews interesting and informative and we thank the authors for these excellent contributions...
January 2019: FEBS Journal
Fernando Henrique Carlos de Souza, Daniel Brito de Araújo, Verônica Silva Vilela, Mailze Campos Bezerra, Ricardo Santos Simões, Wanderley Marques Bernardo, Renata Miossi, Bernardo Matos da Cunha, Samuel Katsuyuki Shinjo
BACKGROUND: Recommendations of the Myopathy Committee of the Brazilian Society of Rheumatology for the management and therapy of systemic autoimmune myopathies (SAM). MAIN BODY: The review of the literature was done in the search for the Medline (PubMed), Embase and Cochrane databases including studies published until June 2018. The Prisma was used for the systematic review and the articles were evaluated according to the levels of Oxford evidence. Ten recommendations were developed addressing the management and therapy of systemic autoimmune myopathies...
January 22, 2019: Advances in rheumatology
Diego Sales de Oliveira, Rafael Giovani Misse, Fernanda Rodrigues Lima, Samuel Katsuyuki Shinjo
Systemic autoimmune myopathies (SAMs) are a heterogeneous group of rare systemic autoimmune diseases that primarily affect skeletal muscles. Patients with SAMs show progressive skeletal muscle weakness and consequent functional disabilities, low health quality, and sedentary lifestyles. In this context, exercise training emerges as a non-pharmacological therapy to improve muscle strength and function as well as the clinical aspects of these diseases. Because many have feared that physical exercise exacerbates inflammation and consequently worsens the clinical manifestations of SAMs, it is necessary to evaluate the possible benefits and safety of exercise training among these patients...
May 24, 2018: Advances in rheumatology
Luisa Brites, Joana Ribeiro, Mariana Luis, Mariana Santiago, Luis Negrão, Catia Duarte
Primary biliary cholangitis (PBC) is a rare chronic disease, characterized by progressive cholestasis that could end in end-stage liver disease. Its diagnosis is based in the presence of a cholestatic pattern and antimitochondrial antibodies. Neurological complications of PBC are unusual, but there are descriptions of association with myopathies and neuropathies, being polymyositis the most frequent. We report two cases of patients with the diagnosis of PBC with neurologic complications: one case with asymptomatic PBC and myopathy and another one with demyelinating neuropathy...
October 2018: Acta Reumatológica Portuguesa
Céline Anquetil, Olivier Boyer, Nadège Wesner, Olivier Benveniste, Yves Allenbach
Over the past few years, myositis-specific autoantibodies played an increasing role in the inflammatory idiopathic myositis definition. They became the critical immunological marker for immune-mediated necrotizing myopathy diagnosis (IMNM) since the paradigm switch from histological to serological criteria. This review is focused on the key role of the anti-signal recognition particle (anti-SRP) and the anti-3-Hydroxy-3-MethylGlutaryl-Coenzyme A Reductase (anti-HMGCR) antibodies in immune-mediated necrotizing myopathy...
January 10, 2019: Autoimmunity Reviews
Jan Damoiseaux, Jean-Baptiste Vulsteke, Chih-Wei Tseng, Anouk C M Platteel, Yves Piette, Ora Shovman, Carolien Bonroy, Dörte Hamann, Ellen De Langhe, Lucille Musset, Yi-Hsing Chen, Yehuda Shoenfeld, Yves Allenbach, Xavier Bossuyt
Idiopathic inflammatory myopathies (IIM) are a group of diseases characterized by immune-mediated muscular lesions that may be associated with extra-muscular manifestations involving skin, lungs, heart or joints. Four main groups of IIM can be distinguished: dermatomyositis (DM), overlap myositis including mainly anti-synthetase syndrome (ASS), immune mediated necrotizing myopathy (IMNM), and inclusion body myositis (IBM). Myositis-specific autoantibodies (MSA) are increasingly recognized as valuable tools for diagnosis, classification and prognosis of IIM...
January 10, 2019: Autoimmunity Reviews
Araya Puwanant, Michael Isfort, David Lacomis, Saša A Živković
Cancer immunotherapy has transformed the field of oncology and enabled more effective management of previously refractory neoplasms by activation of the immune response. Upregulation of the immune response may also trigger autoimmune adverse events, including neuromuscular complications. We performed a systematic review of autoimmune neuromuscular complications following immune checkpoint blockade. We searched PubMed database and identified 81 cases described, including 30 cases of myasthenia gravis (MG), 29 cases of neuropathy and 22 cases of myopathy...
December 3, 2018: Neuromuscular Disorders: NMD
Kai-Ling Yong, Chiaw-Ling Chng, Nicole Ming Sie, Stephanie Lang, Morgan Yang, Audrey Looi, Chai-Teck Choo, Sunny Shen, Lay Leng Seah
PURPOSE: To compare the efficacy and safety of adjunctive oral methotrexate with intravenous pulsed methylprednisolone against methylprednisolone alone in the treatment of severe thyroid eye disease. METHODS: Retrospective review of clinical data of patients with severe sight-threatening thyroid eye disease with compressive optic neuropathy treated with methylprednisolone with and without methotrexate. Eye disease outcome measures (e.g., VISA inflammatory score and vision) at 0, 3, 6, 12, and 18 months were recorded...
January 7, 2019: Ophthalmic Plastic and Reconstructive Surgery
Boel De Paepe
The sporadic form of inclusion body myositis (IBM) is the most common late-onset myopathy. Its complex pathogenesis includes degenerative, inflammatory and mitochondrial aspects. However, which of those mechanisms are cause and which effect, as well as their interrelations, remain partly obscured to this day. In this review the nature of the mitochondrial dysregulation in IBM muscle is explored and comparison is made with other muscle disorders. Mitochondrial alterations in IBM are evidenced by histological and serum biomarkers...
January 7, 2019: Biomolecules
Fang Feng, Yue Li, Suqiong Ji, Qiong Wang, Bitao Bu
OBJECTIVES: To assess the efficacy and safety of tacrolimus in combination with corticosteroids in patients with immune-mediated necrotising myopathy. METHODS: The medical records of 20 hospitalised patients with immune-mediated necrotising myopathy (IMNM) who had received tacrolimus combined with oral prednisone from January 2014 to August 2017 were retrospectively reviewed. The recruited patients were shifted to the combined therapy because they failed to respond well to monotherapy with oral prednisone...
January 2, 2019: Clinical and Experimental Rheumatology
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