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https://www.readbyqxmd.com/read/28095296/diverse-role-of-survival-motor-neuron-protein
#1
REVIEW
Ravindra N Singh, Matthew D Howell, Eric W Ottesen, Natalia N Singh
The multifunctional Survival Motor Neuron (SMN) protein is required for the survival of all organisms of the animal kingdom. SMN impacts various aspects of RNA metabolism through the formation and/or interaction with ribonucleoprotein (RNP) complexes. SMN regulates biogenesis of small nuclear RNPs, small nucleolar RNPs, small Cajal body-associated RNPs, signal recognition particles and telomerase. SMN also plays an important role in DNA repair, transcription, pre-mRNA splicing, histone mRNA processing, translation, selenoprotein synthesis, macromolecular trafficking, stress granule formation, cell signaling and cytoskeleton maintenance...
January 14, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28076913/use-of-intravenous-immunoglobulin-therapy-for-myositis-an-audit-in-south-australian-patients
#2
Caroline Foreman, Paul Russo, Noelene Davies, Pravin Hissaria, Susanna Proudman, Tiffany Hughes, Vidya Limaye
In South Australia, between 2000 and 2014, 57 patients with idiopathic inflammatory myositis (IIM) were treated with intravenous immunoglobulin (IVIg). We reviewed disease characteristics to determine predictors of response to therapy and IVIg dosing and duration to identify opportunities to rationalise IVIg use. Patients with dermatomyositis/polymyositis had a response rate of 77% and were more likely than inclusion body myositis to respond to therapy. Consideration should be given to the use of the lowest possible dose of IVIg and to the undertaking of trials of cessation of IVIg in patients with stable IIM...
January 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28076378/p62-pathology-model-in-the-rat-substantia-nigra-with-filamentous-inclusions-and-progressive-neurodegeneration
#3
Kasey L Jackson, Wen-Lang Lin, Sumitra Miriyala, Robert D Dayton, Manikandan Panchatcharam, Kevin J McCarthy, Monica Castanedes-Casey, Dennis W Dickson, Ronald L Klein
One of the proteins most frequently found in neuropathological lesions is the ubiquitin binding protein p62 (sequestosome 1). Post-mortem analysis of p62 is a defining diagnostic marker in several neurodegenerative diseases including amyotrophic lateral sclerosis and inclusion body myositis. Since p62 functions in protein degradation pathways including autophagy, the build-up of p62-positive inclusions suggests defects in protein clearance. p62 was expressed unilaterally in the rat substantia nigra with an adeno-associated virus vector (AAV9) in order to study p62 neuropathology...
2017: PloS One
https://www.readbyqxmd.com/read/28042944/comparison-of-serum-raav-serotype-specific-antibodies-in-patients-with-duchenne-muscular-dystrophy-becker-muscular-dystrophy-inclusion-body-myositis-or-gne-myopathy
#4
Deborah Zygmunt, Kelly E Crowe, Kevin Flanigan, Paul T Martin
Recombinant Adeno-associated virus (rAAV) is a commonly used gene therapy vector for the delivery of therapeutic transgenes in a variety of human diseases, but pre-existing serum antibodies to viral capsid proteins can greatly inhibit rAAV transduction of tissues. We have assayed serum from patients with Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (DMD), Inclusion Body Myositis (IBM), and GNE myopathy (GNE). These were compared to serum from otherwise normal human subjects to determine the extent of pre-existing serum antibodies to rAAVrh74, rAAV1, rAAV2, rAAV6, rAAV8 and rAAV9...
January 2, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28039312/sarcoplasmic-mxa-expression-a-valuable-marker-of-dermatomyositis
#5
Akinori Uruha, Atsuko Nishikawa, Rie S Tsuburaya, Kohei Hamanaka, Masataka Kuwana, Yurika Watanabe, Shigeaki Suzuki, Norihiro Suzuki, Ichizo Nishino
OBJECTIVE: To evaluate the diagnostic value of myxovirus resistance A (MxA) expression in the cytoplasm of myofibers in the diagnosis of dermatomyositis (DM). METHODS: We assessed the sensitivity and specificity of the sarcoplasmic expression of MxA in muscles with DM by immunohistochemistry in consecutive cases of DM (n = 34) and other idiopathic inflammatory myopathies (n = 120: 8 with polymyositis, 16 with anti-tRNA-synthetase antibody-associated myositis, 46 with immune-mediated necrotizing myopathy, and 50 with inclusion body myositis) and compared them with conventional pathologic hallmarks of DM, including perifascicular atrophy (PFA) and membrane attack complex (MAC) deposition on endomysial capillaries...
December 30, 2016: Neurology
https://www.readbyqxmd.com/read/28009083/proteomics-of-rimmed-vacuoles-define-new-risk-allele-in-inclusion-body-myositis
#6
Anne-Katrin Güttsches, Stefen Brady, Kathryn Krause, Alexandra Maerkens, Julian Uszkoreit, Martin Eisenacher, Anja Schreiner, Sara Galozzi, Janine Mertens-Rill, Martin Tegenthoff, Janice L Holton, Matthew B Harms, Thomas E Lloyd, Matthias Vorgerd, Conrad C Weihl, Katrin Marcus, Rudolf A Kley
OBJECTIVE: Sporadic inclusion body myositis (sIBM) pathogenesis is unknown; however, rimmed vacuoles (RVs) are a constant feature. We propose to identify proteins that accumulate within RVs. METHODS: RVs and intact myofibers were laser microdissected from skeletal muscle of 18 sIBM patients and analyzed by a sensitive mass spectrometry approach using label-free spectral count-based relative protein quantification. Whole exome sequencing was performed on 62 sIBM patients...
December 23, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27939356/the-origins-of-rimmed-vacuoles-and-granulovacuolar-degeneration-bodies-are-associated-with-the-wnt-signaling-pathway
#7
Yukari Murata-Shinozaki, Tetsuya Takahashi, Tomoyasu Matsubara, Hirofumi Maruyama, Yuishin Izumi, Masayasu Matsumoto
Inclusion-body myositis (IBM) and Alzheimer's disease (AD) are biochemically characterized by the presence of aggregated β-amyloid protein and tau protein. In addition, both diseases are pathologically characterized by vacuolar changes, including rimmed vacuoles (RVs) in IBM and granulovacuolar degeneration (GVD) in AD. Previously, we demonstrated that RVs and GVD bodies are associated with a set of common molecules, leading us to speculate that both RVs and GVD bodies originate from similar structures on the plasma membrane of muscle cells and neuronal cells, namely, the neuromuscular junction (NMJ) and the postsynaptic spine especially in terms of Wnt signaling pathway...
December 7, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27927941/a-population-based-epidemiologic-study-of-adult-neuromuscular-disease-in-the-republic-of-ireland
#8
Stela Lefter, Orla Hardiman, Aisling M Ryan
OBJECTIVE: To estimate the prevalence rates (PRs) of acquired and inherited neuromuscular diseases (NMD) in the adult Irish population, reflecting the burden of these conditions in a single country. METHODS: This population-based study was performed in the Republic of Ireland (RoI), with a PR estimated for December 2013. Multiple case ascertainment sources were utilized. Demographic and clinical information and relevant diagnostic results were registered. RESULTS: A total of 2,641 adults were identified, giving a PR of 62...
December 7, 2016: Neurology
https://www.readbyqxmd.com/read/27922498/inclusion-body-myositis
#9
Steven A Greenberg
PURPOSE OF REVIEW: Inclusion body myositis (IBM) is an enigmatic progressive disease of skeletal muscle. This review provides a summary of the clinical and pathophysiologic aspects of IBM. RECENT FINDINGS: The development of diagnostic blood testing for IBM followed from the discovery of a B-cell pathway in IBM muscle and circulating autoantibodies against NT5C1A, further establishing IBM's status as an autoimmune disease. The key role of cytotoxic T cells in IBM is further supported by the identification of a link between IBM and T-cell large granular lymphocytic leukemia...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27916754/-autoantibodies-of-inflammatory-myopathies-update
#10
Shigeaki Suzuki
Inflammatory myopathies are a heterogeneous group of immune-mediated diseases that involve the skeletal muscle as well as many other organs. In addition to a histological diagnosis at muscle biopsy, the clinical phenotypes of inflammatory myopathies can be defined by the presence of various autoantibodies that are originally detected by RNA or protein immunoprecipitation. However, the correlation between histological features and autoantibodies has not been fully elucidated. Immune-mediated necrotizing myopathy (IMNM), which is characterized by significant necrotic and regeneration muscle fibers with minimal or no inflammatory cell infiltration, is associated with the presence of autoantibodies...
December 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/27916753/-diagnosis-of-idiopathic-inflammatory-myopathy-a-muscle-pathology-perspective
#11
Michio Inoue, Ichizo Nishino
Idiopathic inflammatory myopathies are historically classified into polymyositis and dermatomyositis based on the presence or absence of skin lesions. Recently, however, a more histology-oriented classification into 6 subtypes has been proposed. The subtypes include dermatomyositis, polymyositis, inclusion body myositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, and non-specific myositis. With strict criteria applied, polymyositis is now extremely rare, while immune-mediated necrotizing myopathy is the most common among all inflammatory myopathies and is often associated with autoantibodies including those for signal recognition particle (SRP) or 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR)...
December 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/27908312/calcinosis-in-poly-dermatomyositis-clinical-and-laboratory-predictors-and-treatment-options
#12
Micaela Fredi, Francesca Bartoli, Ilaria Cavazzana, Angela Cerebelli, Nice Carabellese, Angela Tincani, Minoru Satoh, Franco Franceschini
OBJECTIVES: We aimed to identify the possible clinical and laboratory predictors of calcinosis in a cohort of patients with a diagnosis of polymyositis (PM) and dermatomyositis (DM). METHODS: We carried out a retrospective analysis of a cohort of myositis patients attending our clinic between January 2013 and May 2014. RESULTS: 74 patients (58 females, 16 males) with PM (30 cases), DM (30 cases), overlap syndrome (13 cases) and inclusion body myositis (1 case) were enrolled...
November 14, 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27904121/sporadic-inclusion-body-myositis-manifesting-as-isolated-muscle-weakness-of-the-finger-flexors-three-years-after-disease-onset
#13
Yuichi Suwa, Naoki Suzuki, Temma Soga, Ryuhei Harada, Aya Shibui, Hiroshi Kuroda, Rumiko Izumi, Maki Tateyama, Ichiro Nakashima, Masahiro Sonoo, Masashi Aoki
Sporadic inclusion body myositis (sIBM) is a chronic progressive myopathy characterized by muscle weakness of both the quadriceps femoris and finger flexors. We herein present the case of a typical male patient with sIBM, which manifested as the isolated weakness of the finger flexors three years after the disease onset. We have identified several patients with sIBM in our cohort with muscle weakness of the flexors but not the quadriceps femoris. Examination of the flexor digitorum profundus muscle is important for the early and proper diagnosis of sIBM, even if a patient only presents with isolated finger flexor muscle weakness...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27889862/erratum-to-botulinum-toxin-and-rehabilitation-treatment-in-inclusion-body-myositis-for-severe-oropharyngeal-dysphagia
#14
Chiara Di Pede, Stefano Masiero, Valentina Bonsangue, Rosario Marchese-Ragona, Alessandra Del Felice
No abstract text is available yet for this article.
November 26, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27861218/inclusion-body-myositis-what-most-impacts-patients-lives
#15
Cynthia Gibson, Nicholas E Johnson, Eileen Eastwood, Chad Heatwole
OBJECTIVE: Inclusion body myositis (IBM) is the most common form of idiopathic inflammatory myopathy in adults older than 50 years. Few studies have focused on the functional, physical, and social limitations of this disease. This study identifies pertinent symptoms that impact the health and daily function of patients with IBM. METHODS: We used semistructured interviews with 10 biopsy-confirmed adults with IBM to identify the psychological, physical, and functional limitations that have the greatest impact on the lives of patients with IBM...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27858337/development-and-evaluation-of-a-standardized-elisa-for-the-determination-of-autoantibodies-against-cn-1a-mup44-nt5c1a-in-sporadic-inclusion-body-myositis
#16
Sabine L Kramp, Dmitry Karayev, Guo Shen, Allan L Metzger, Robert I Morris, Eugene Karayev, Yvonne Lam, Richard M Kazdan, Ger J M Pruijn, Sandra Saschenbrecker, Cornelia Dähnrich, Wolfgang Schlumberger
PURPOSE: Sporadic inclusion body myositis (sIBM) is an autoimmune degenerative disease of the muscle, with inflammatory infiltrates and inclusion vacuoles. Its pathogenesis is not fully understood and the diagnosis is hampered by its imprecise characteristics, at times indistinguishable from other idiopathic inflammatory myopathies such as polymyositis and dermatomyositis. The diagnosis may be assisted by the detection of autoantibodies targeting Mup44, a skeletal muscle antigen identified as cytosolic 5'-nucleotidase 1A (cN-1A, NT5C1A)...
December 2016: Auto- Immunity Highlights
https://www.readbyqxmd.com/read/27854211/n-terminal-%C3%AE-dystroglycan-%C3%AE-dg-n-a%C3%A2-potential-serum-biomarker-for-duchenne-muscular-dystrophy
#17
Kelly E Crowe, Guohong Shao, Kevin M Flanigan, Paul T Martin
BACKGROUND: Duchenne Muscular Dystrophy (DMD) is a severe, progressive, neuromuscular disorder of childhood. While a number of serum factors have been identified as potential biomarkers of DMD, none, as yet, are proteins within the dystrophin-associated glycoprotein (DAG) complex. OBJECTIVE: We have developed an immobilized serum ELISA assay to measure the expression of a constitutively cleaved and secreted component of the DAG complex, the N-terminal domain of α dystroglycan (αDG-N), and assayed relative expression in serum from muscular dystrophy patients and normal controls...
May 27, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27854208/mortality-and-causes-of-death-in-patients-with-sporadic-inclusion-body-myositis-survey-study-based-on-the-clinical-experience-of-specialists-in-australia-europe-and-the-usa
#18
Mark A Price, Victoria Barghout, Olivier Benveniste, Lisa Christopher-Stine, Alastair Corbett, Marianne de Visser, David Hilton-Jones, John T Kissel, Thomas E Lloyd, Ingrid E Lundberg, Francis Mastaglia, Tahseen Mozaffar, Merrilee Needham, Jens Schmidt, Kumaraswamy Sivakumar, Carla DeMuro, Brian S Tseng
BACKGROUND: There is a paucity of data on mortality and causes of death (CoDs) in patients with sporadic inclusion body myositis (sIBM), a rare, progressive, degenerative, inflammatory myopathy that typically affects those aged over 50 years. OBJECTIVE: Based on patient records and expertise of clinical specialists, this study used questionnaires to evaluate physicians' views on clinical characteristics of sIBM that may impact on premature mortality and CoDs in these patients...
March 3, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27821140/multicenter-questionnaire-survey-for-sporadic-inclusion-body-myositis-in-japan
#19
Naoki Suzuki, Madoka Mori-Yoshimura, Satoshi Yamashita, Satoshi Nakano, Ken-Ya Murata, Yukie Inamori, Naoko Matsui, En Kimura, Hirofumi Kusaka, Tomoyoshi Kondo, Itsuro Higuchi, Ryuji Kaji, Maki Tateyama, Rumiko Izumi, Hiroya Ono, Masaaki Kato, Hitoshi Warita, Toshiaki Takahashi, Ichizo Nishino, Masashi Aoki
BACKGROUND: Sporadic inclusion body myositis (sIBM) is the most prevalent acquired muscle disease in the elderly. sIBM is an intractable and progressive disease of unknown cause and without effective treatment. The etiology of sIBM is still unknown; however, genetic factors, aging, lifestyles, and environmental factors may be involved. The purpose of this study is to elucidate the cross-sectional profile of patients affected by sIBM in Japan. METHODS: We surveyed patient data for 146 cases diagnosed at a number of centers across Japan...
November 8, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27799074/activation-of-the-keap1-nrf2-stress-response-pathway-in-autophagic-vacuolar-myopathies
#20
Steve Duleh, Xianhong Wang, Allison Komirenko, Marta Margeta
Nrf2 (nuclear factor [erythroid-derived 2]-like 2; the transcriptional master regulator of the antioxidant stress response) is regulated through interaction with its cytoplasmic inhibitor Keap1 (Kelch-like ECH-associated protein 1), which under basal conditions targets Nrf2 for proteasomal degradation. Sequestosome 1 (SQSTM1)/p62-a multifunctional adapter protein that accumulates following autophagy inhibition and can serve as a diagnostic marker for human autophagic vacuolar myopathies (AVMs)-was recently shown to compete with Nrf2 for Keap1 binding, resulting in activation of the Nrf2 pathway...
October 31, 2016: Acta Neuropathologica Communications
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