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Inflammatory myositis

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https://www.readbyqxmd.com/read/28724966/acetylation-induced-tdp-43-pathology-is-suppressed-by-an-hsf1-dependent-chaperone-program
#1
Ping Wang, Connor M Wander, Chao-Xing Yuan, Michael S Bereman, Todd J Cohen
TDP-43 pathology marks a spectrum of multisystem proteinopathies including amyotrophic lateral sclerosis, frontotemporal lobar degeneration, and sporadic inclusion body myositis. Surprisingly, it has been challenging to recapitulate this pathology, highlighting an incomplete understanding of TDP-43 regulatory mechanisms. Here we provide evidence supporting TDP-43 acetylation as a trigger for disease pathology. Using cultured cells and mouse skeletal muscle, we show that TDP-43 acetylation-mimics promote TDP-43 phosphorylation and ubiquitination, perturb mitochondria, and initiate degenerative inflammatory responses that resemble sporadic inclusion body myositis pathology...
July 19, 2017: Nature Communications
https://www.readbyqxmd.com/read/28720599/hyperacute-muscle-weakness-in-an-unusual-coexistence-of-antisignal-recognition-particle-and-anti-mi-2-antibodies
#2
Richard Oluyinka Akintayo, Olanrewaju Festus Agbola, Abiodun Waliyullah Adeyemo, Olufemi Adelowo
Idiopathic inflammatory myopathies are a heterogeneous group of systemic diseases characterised by variable phenotypes of chronic progressive muscle weakness. Myositis-specific antibodies (MSAs) include antibodies to cytoplasmic signal recognition particle (SRP) and various tRNA synthetases as well as the nuclear helicase protein Mi-2. These antibodies are typically found only in a fraction of true myositis cases and they tend to be mutually exclusive. Few cases of coexistence of two MSAs in the same patient have been reported and these cases all involve an antisynthetase antibody coexisting with either anti-SRP or anti-Mi-2 antibody...
July 18, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28687351/prevalence-of-anti-nt5c1a-antibodies-in-japanese-patients-with-autoimmune-rheumatic-diseases-in-comparison-with-other-patient-cohorts
#3
Yoshinao Muro, Hirotaka Nakanishi, Masahisa Katsuno, Michihiro Kono, Masashi Akiyama
BACKGROUND: Sporadic inclusion body myositis (sIBM) is usually classified as an idiopathic inflammatory myopathies. Although the diagnosis of sIBM is sometimes challenging, recent studies have shown that the autoantibodies against cytosolic 5'-nucleotidase 1A (NT5C1A) are the possible diagnostic biomarker for sIBM. Few reports have shown the frequencies of anti-NT5C1A antibodies in systemic autoimmune rheumatic diseases (SARDs) using large cohorts of SARDs. METHODS: Serum samples obtained from 314 patients including dermatomyositis (DM) (n=144), systemic lupus erythematosus (SLE) (n=50), systemic sclerosis (SSc) (n=50), Sjögren's syndrome (SS) (n=50), polymyositis (PM) (n=10) and mixed connective tissue disease (n=10), and healthy controls (n=42) in addition to 10 patients with typical sIBM were analysed for the presence of autoantibodies using full-length recombinant NT5C1A ELISA...
July 4, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28679511/traumatic-myositis-ossificans-circumscripta-moc
#4
Manel Landolsi, Tej Mrad
We report a case of a 29-year-old man who had been a victim of a public road accident. Four weeks later, the patient developed an isolated right thigh mass located ventrally in the distal one-third of the thigh. The mass was painful and associated with fever and inflammatory syndrome. Plain radiographs showed a bilateral calcified thickening of soft tissues with well-defined bony margins. Ultrasound objectified diffuse calcifications of soft tissues.CT scan-confirmed the diagnosis of myositis ossificans circumscripta, showing a bilateral thickening of the vastus intermedius chief of the quadriceps dotted with calcifications, extending along the femur axis...
July 5, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28673815/autoantibodies-to-su-argonaute-2-in-japanese-patients-with-inflammatory-myopathy
#5
Mariko Ogawa-Momohara, Yoshinao Muro, Minoru Satoh, Masashi Akiyama
BACKGROUND: Anti-Su antibodies are found in 5-20% of cases of various systemic autoimmune rheumatic diseases and in 5-10% of dermatomyositis (DM)/polymyositis (PM) patients. In 2006, the 100kDa Su antigen was identified as argonaute2 (Ago2), and it was found to play a major role in RNA interference. However, immunoprecipitation (IP) remains the main method for detecting anti-Su and the clinical significance of the antibodies is uncertain. METHODS: Sera from patients with DM/PM (n=224) were screened by an ELISA that uses recombinant biotinylated Ago2 protein...
June 30, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28668260/-amyopathic-dermatomyositis-dm-with-anti-mda5-antibodies-associated-with-bullous-pemphigoid-sj%C3%A3-gren-syndrome-and-gastric-malt-lymphoma
#6
B Garcia, F Dabouz, L Pascal, M Gillard, P Modiano
BACKGROUND: The inflammatory myopathies are a heterogeneous group of muscle diseases and comprise polymyositis, dermatomyositis (DM), myopathies associated with cancers, necrotising myositis and inclusion body myositis. DM occasionally exhibits few or no muscular signs: i.e. hypomyopathic/amyopathic DM. Anti-MDA5 dermatomyositis (DM) is a rare form of dermatomyositis that is frequently amyopathic; the prognosis is linked mainly to pulmonary involvement. PATIENTS AND METHODS: A 69-year-old woman treated for mucosa-associated lymphoid tissue (MALT) gastric lymphoma was referred for a bullous eruption...
June 28, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28646319/presence-of-enthesopathy-in-patients-with-primary-sjogren-s-syndrome-ultrasonographic-study-of-a-local-cohort
#7
Sinem Sag, Mustafa Serdar Sag, Ibrahim Tekeoglu, Ayhan Kamanlı, Kemal Nas
BACKGROUND: Musculoskeletal findings in Sjögren's syndrome are arthralgia, arthritis, myalgia, myositis, fibromyalgia, and chronic fatigue. Enthesis zones are important in the formation of pain in the musculoskeletal system. Musculoskeletal ultrasound (US) may show subclinical enthesitis in the synovial joints and in the axial skeleton before joint swelling in inflammatory diseases characterized by arthritis. OBJECTIVE: In this study, we aimed to determine the presence of enthesopathy using the Madrid sonographic enthesitis index (MASEI) in patients with primary Sjögren's syndrome (PSS)...
June 23, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/28623559/ifn-%C3%AE-induced-reactive-oxygen-species-and-mitochondrial-damage-contribute-to-muscle-impairment-and-inflammation-maintenance-in-dermatomyositis
#8
Alain Meyer, Gilles Laverny, Yves Allenbach, Elise Grelet, Vanessa Ueberschlag, Andoni Echaniz-Laguna, Béatrice Lannes, Ghada Alsaleh, Anne Laure Charles, François Singh, Joffrey Zoll, Evelyne Lonsdorfer, François Maurier, Olivier Boyer, Jacques-Eric Gottenberg, Anne Sophie Nicot, Jocelyn Laporte, Olivier Benveniste, Daniel Metzger, Jean Sibilia, Bernard Geny
Dermatomyositis (DM) is an autoimmune disease associated with enhanced type I interferon (IFN) signalling in skeletal muscle, but the mechanisms underlying muscle dysfunction and inflammation perpetuation remain unknown. Transcriptomic analysis of early untreated DM muscles revealed that the main cluster of down-regulated genes was mitochondria-related. Histochemical, electron microscopy, and in situ oxygraphy analysis showed mitochondrial abnormalities, including increased reactive oxygen species (ROS) production and decreased respiration, which was correlated with low exercise capacities and a type I IFN signature...
June 16, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28619061/rituximab-versus-cyclophosphamide-for-the-treatment-of-connective-tissue-disease-associated-interstitial-lung-disease-recital-study-protocol-for-a-randomised-controlled-trial
#9
Peter Saunders, Vicky Tsipouri, Gregory J Keir, Deborah Ashby, Marcus D Flather, Helen Parfrey, Daphne Babalis, Elisabetta A Renzoni, Christopher P Denton, Athol U Wells, Toby M Maher
BACKGROUND: Interstitial lung disease (ILD) frequently complicates systemic autoimmune disorders resulting in considerable morbidity and mortality. The connective tissue diseases (CTDs) most frequently resulting in ILD include: systemic sclerosis, idiopathic inflammatory myositis (including dermatomyositis, polymyositis and anti-synthetase syndrome) and mixed connective tissue disease. Despite the development, over the last two decades, of a range of biological therapies which have resulted in significant improvements in the treatment of the systemic manifestations of CTD, the management of CTD-associated ILD has changed little...
June 15, 2017: Trials
https://www.readbyqxmd.com/read/28610606/biologic-therapies-for-refractory-juvenile-dermatomyositis-five-years-of-experience-of-the-childhood-arthritis-and-rheumatology-research-alliance-in-north-america
#10
C H Spencer, K Rouster-Stevens, H Gewanter, G Syverson, R Modica, K Schmidt, H Emery, C Wallace, S Grevich, K Nanda, Y D Zhao, S Shenoi, S Tarvin, S Hong, C Lindsley, J E Weiss, M Passo, K Ede, A Brown, K Ardalan, W Bernal, M L Stoll, B Lang, R Carrasco, C Agaiar, L Feller, H Bukulmez, R Vehe, H Kim, H Schmeling, D Gerstbacher, M Hoeltzel, B Eberhard, R Sundel, S Kim, A M Huber, A Patwardhan
BACKGROUND: The prognosis of children with juvenile dermatomyositis (JDM) has improved remarkably since the 1960's with the use of corticosteroid and immunosuppressive therapy. Yet there remain a minority of children who have refractory disease. Since 2003 the sporadic use of biologics (genetically-engineered proteins that usually are derived from human genes) for inflammatory myositis has been reported. In 2011-2016 we investigated our collective experience of biologics in JDM through the Childhood Arthritis and Rheumatology Research Alliance (CARRA)...
June 13, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28602176/calpainopathy-with-macrophage-rich-regional-inflammatory-infiltrates
#11
Peter W Schutz, Renata S Scalco, Rita Barresi, Henry Houlden, Matthew Parton, Janice L Holton
Mutations in calpain-3 cause limb girdle muscular dystrophy 2A. Biopsy pathology is typically dystrophic, sometimes characterized by frequent lobulated fibres. More recently calpain mutations have been shown in association with eosinophilic myositis, suggesting that calpain mutations may render muscle susceptible to inflammatory change. We present the case of a 33-year old female with mild proximal muscle weakness and high CK levels (6698 IU/L at presentation). Muscle biopsy showed clusters of fibre necrosis associated with very dense macrophage infiltrates and small numbers of lymphocytes, raising the possibility of an inflammatory myopathy...
April 27, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28589389/-safety-and-efficacy-of-off-label-use-of-biologic-therapies-in-patients-with-inflammatory-rheumatic-diseases-refractory-to-standard-of-care-therapy-data-from-a%C3%A2-nationwide-german-registry-graid2
#12
F Proft, H Schulze-Koops, M Grunke, E Schrezenmeier, F Halleck, J Henes, L Unger, E Schmidt, C Fiehn, A Jacobi, C Iking-Konert, C Kneitz, R E Schmidt, B Bannert, R E Voll, R Fischer-Betz, I Kötter, H P Tony, J Holle, M Aringer, A Erler, F Behrens, G R Burmester, T Dörner
BACKGROUND: The German Registry of Autoimmune Diseases 2 (GRAID2) is a retrospective, non-interventional, multicenter registry study collecting data from patients with inflammatory, mainly rheumatic diseases refractory to standard of care therapy and treated with an off-label biologic therapy. The retrospective documentation comprised case history, diagnosis, course of disease (including safety and global efficacy). The objective was to evaluate the global clinical outcome and safety of off-label biologic therapy in clinical practice...
June 6, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28589170/immune-and-myodegenerative-pathomechanisms-in-inclusion-body-myositis
#13
REVIEW
Christian W Keller, Jens Schmidt, Jan D Lünemann
Inclusion Body Myositis (IBM) is a relatively common acquired inflammatory myopathy in patients above 50 years of age. Pathological hallmarks of IBM are intramyofiber protein inclusions and endomysial inflammation, indicating that both myodegenerative and inflammatory mechanisms contribute to its pathogenesis. Impaired protein degradation by the autophagic machinery, which regulates innate and adaptive immune responses, in skeletal muscle fibers has recently been identified as a potential key pathomechanism in IBM...
June 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28587920/-what-would-you-do-with-an-adult-patient-who-consults-due-to-head-muscle-weakness-and-has-dropped-head
#14
L Paino, N Blasco
The dropped head syndrome, whether due to muscle weakness, rigidity, or ankylosis, is not uncommon in the elderly. It is characterised by a "chin-on-chest" reducible kyphosis, which is secondary to head muscle debility. It may be associated with a neuromuscular group of diseases such as polymyositis, chronic Inflammatory demyelinating polyneuropathy, myasthenia gravis, amyotrophic lateral sclerosis, and inclusion-body myositis. Some cases associated with hypothyroidism and hyperparathyroidism have also been described...
June 3, 2017: Semergen
https://www.readbyqxmd.com/read/28586844/skeletal-muscle-involvement-in-antisynthetase-syndrome
#15
Eri Noguchi, Akinori Uruha, Shigeaki Suzuki, Kohei Hamanaka, Yuko Ohnuki, Jun Tsugawa, Yurika Watanabe, Jin Nakahara, Takashi Shiina, Norihiro Suzuki, Ichizo Nishino
Importance: Antisynthetase syndrome, characterized by myositis, interstitial lung disease, skin rash, arthropathy, and Raynaud phenomenon, is a clinical entity based on the presence of aminoacyl transfer RNA synthetase (ARS) antibodies in patients' serum. However, antisynthetase syndrome is not included in the histological subsets of idiopathic inflammatory myopathies. Objective: To elucidate the clinical features of myositis in patients with antisynthetase syndrome...
June 5, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28572050/myocarditis-in-auto-immune-or-auto-inflammatory-diseases
#16
REVIEW
Cloé Comarmond, Patrice Cacoub
Myocarditis is a major cause of heart disease in young patients and a common precursor of heart failure due to dilated cardiomyopathy. Some auto-immune and/or auto-inflammatory diseases may be accompanied by myocarditis, such as sarcoidosis, Behçet's disease, eosinophilic granulomatosis with polyangiitis, myositis, and systemic lupus erythematosus. However, data concerning myocarditis in such auto-immune and/or auto-inflammatory diseases are sparse. New therapeutic strategies should better target the modulation of the immune system, depending on the phase of the disease and the type of underlying auto-immune and/or auto-inflammatory disease...
May 29, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28567235/investigating-idiopathic-inflammatory-myopathy-initial-cross-speciality-experience-with-use-of-the-extended-myositis-antibody-panel
#17
Antoinette O'Connor, Jennifer Mulhall, Sinead M J Harney, John G Ryan, Grainne Murphy, Michael T Henry, Peter Annis, Vincent Tormey, Aisling M Ryan
The discovery of unique autoantibodies has informed and altered our approach to the diagnosis and management of the inflammatory myopathies. This study reports the initial clinical experience of use of the Extended Myositis Antibody (EMA) panel in the largest university teaching hospital in Ireland. We conducted a retrospective review of all patients who had serum samples tested for myositis specific antibodies and myositis associated antibodies from April 2014 to March 2015. A positive EMA panel was of significant clinical utility in facilitating decisions on appropriate investigations, and need for onward referral to other physicians...
April 6, 2017: Clinics and Practice
https://www.readbyqxmd.com/read/28550457/treatment-of-juvenile-dermatomyositis-an-update
#18
REVIEW
Charalampia Papadopoulou, Lucy R Wedderburn
The idiopathic inflammatory myopathies of childhood consist of a heterogeneous group of autoimmune diseases characterised by proximal muscle weakness and pathognomonic skin rashes. The overall prognosis of juvenile myositis has improved significantly over recent years, but the long-term outcome differs substantially from patient to patient, suggestive of distinct clinical phenotypes with variable responses to treatment. High doses of corticosteroids remain the cornerstone of therapy along with other immunosuppressant therapies depending on disease severity and response...
May 26, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28542661/-benign-acute-childhood-myositis-clinical-series-and-literature-review
#19
Felipe Cavagnaro S M, Alejandra Aird G, Ingrid Harwardt R, Carmen Gloria Marambio Q
Benign acute childhood myositis (BACM) is a rare clinical condition that mainly affects pre-school and school age-children. It is usually preceded by a viral illness, particularly influenza virus infection. OBJECTIVE: To describe a cluster of BACM cases that were seen in a paediatric unit. PATIENTS AND METHODS: A retrospective series of cases that presented with a clinical picture suggestive of BACM between August and November 2012 in the paediatric emergency department of a private clinic...
April 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28524083/idiopathic-inflammatory-myopathies-a-review-of-the-classification-and-impact-of-pathogenesis
#20
REVIEW
Dana E Mandel, Charles J Malemud, Ali D Askari
Idiopathic inflammatory myopathies (IIMs) are a group of autoimmune muscle diseases with significant morbidity and mortality. This review details and updates the pathogenesis and emerging importance of myositis-specific antibodies in the development of IIMs. An increase in the understanding of how these myositis-specific antibodies play a role in IIMs has led to the further categorization of IIMs from the traditional polymyositis versus dermatomyositis, to additional subcategories of IIMs such as necrotizing autoimmune myositis (NAM)...
May 18, 2017: International Journal of Molecular Sciences
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