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https://www.readbyqxmd.com/read/27916754/-autoantibodies-of-inflammatory-myopathies-update
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/27797863/neuromuscular-ultrasound-in-the-evaluation-of-inclusion-body-myositis
#12
Quang Vu, Michael Cartwright
This case report illustrates the role of using neuromuscular ultrasound to diagnose inclusion body myositis (IBM) in a patient who was previously diagnosed with polymyositis. Emerging studies have demonstrated the accuracy of MRI in detecting the selective involvement of the flexor digitorum profundus muscle in those with IBM. However, there have been only few reports on the use of ultrasound in diagnosing this condition. Our case demonstrates the benefit of using this ultrasonographic approach, which is simple, clear, inexpensive, painless and radiation-free, and provides another modality to assist in the evaluation of this sometimes difficult to diagnose condition...
October 20, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27793724/sensitivity-analysis-of-gene-ranking-methods-in-phenotype-prediction
#13
Enrique J deAndrés-Galiana, Juan L Fernández-Martínez, Stephen T Sonis
INTRODUCTION: It has become clear that noise generated during the assay and analytical processes has the ability to disrupt accurate interpretation of genomic studies. Not only does such noise impact the scientific validity and costs of studies, but when assessed in the context of clinically translatable indications such as phenotype prediction, it can lead to inaccurate conclusions that could ultimately impact patients. We applied a sequence of ranking methods to damp noise associated with microarray outputs, and then tested the utility of the approach in three disease indications using publically available datasets...
December 2016: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/27770070/evaluation-of-dysphagia-by-novel-real-time-mri
#14
Arno Olthoff, Per-Ole Carstens, Shuo Zhang, Eva von Fintel, Tim Friede, Joachim Lotz, Jens Frahm, Jens Schmidt
OBJECTIVE: To assess safety and feasibility of real-time (RT) MRI for evaluation of dysphagia and to compare this technique to standard assessment by flexible endoscopic evaluation of swallowing (FEES) and videofluoroscopy (VF) in a cohort of patients with inclusion body myositis (IBM). METHODS: Using RT-MRI, FEES, and VF, an unselected cohort of 20 patients with IBM was studied as index disease with a uniform dysphagia. Symptoms of IBM and dysphagia were explored by standardized tools including Swallowing-Related Quality of Life Questionnaire (SWAL-QoL), IBM Functional Rating Scale, Patient-Reported Functional Assessment, and Medical Research Council Scale...
November 15, 2016: Neurology
https://www.readbyqxmd.com/read/27752355/cardiac-involvement-in-adult-and-juvenile-idiopathic-inflammatory-myopathies
#15
REVIEW
Thomas Schwartz, Louise Pyndt Diederichsen, Ingrid E Lundberg, Ivar Sjaastad, Helga Sanner
Idiopathic inflammatory myopathies (IIM) include the main subgroups polymyositis (PM), dermatomyositis (DM), inclusion body myositis (IBM) and juvenile DM (JDM). The mentioned subgroups are characterised by inflammation of skeletal muscles leading to muscle weakness and other organs can also be affected as well. Even though clinically significant heart involvement is uncommon, heart disease is one of the major causes of death in IIM. Recent studies show an increased prevalence of traditional cardiovascular risk factors in JDM and DM/PM, which need attention...
2016: RMD Open
https://www.readbyqxmd.com/read/27692540/sporadic-inclusion-body-myositis-misdiagnosed-as-idiopathic-granulomatous-myositis
#16
Monica Lavian, Namita Goyal, Tahseen Mozaffar
We present a case of a 65-year-old woman who was previously diagnosed with idiopathic granulomatous myositis and treated with immunosuppressive therapy for the next 10 years before a clinical diagnosis of inclusion body myositis was made. A review of the previously performed muscle biopsy showed most of the cardinal myopathologic features of sporadic inclusion body myositis, in addition to the granuloma. Her clinical course was strongly suggestive of inclusion body myositis with selective asymmetric weakness of forearm flexor muscles and quadriceps...
September 13, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27667295/-insight-into-the-training-of-patients-with-idiopathic-inflammatory-myopathy
#17
Andrea Váncsa
Using current recommended treatment, a majority of patients with idiopathic inflammatory myopathy develop muscle impairment and poor health. Beneficial effects of exercise have been reported on muscle performance, aerobic capacity and health in chronic polymyositis and dermatomyositis, as well as in active disease and inclusion body myositis to some extent. Importantly, randomized controlled trials indicate that improved health and decreased clinical disease activity could be mediated through increased aerobic capacity...
September 2016: Orvosi Hetilap
https://www.readbyqxmd.com/read/27651398/thigh-muscle-mri-in-immune-mediated-necrotising-myopathy-extensive-oedema-early-muscle-damage-and-role-of-anti-srp-autoantibodies-as-a-marker-of-severity
#18
Iago Pinal-Fernandez, Maria Casal-Dominguez, John A Carrino, Arash H Lahouti, Pari Basharat, Jemima Albayda, Julie J Paik, Shivani Ahlawat, Sonye K Danoff, Thomas E Lloyd, Andrew L Mammen, Lisa Christopher-Stine
OBJECTIVES: The aims of this study were to define the pattern of muscle involvement in patients with immune-mediated necrotising myopathy (IMNM) relative to those with other inflammatory myopathies and to compare patients with IMNM with different autoantibodies. METHODS: All Johns Hopkins Myositis Longitudinal Cohort subjects with a thigh MRI (tMRI) who fulfilled criteria for IMNM, dermatomyositis (DM), polymyositis (PM), inclusion body myositis (IBM) or clinically amyopathic DM (CADM) were included in the study...
September 20, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27623743/transforming-growth-factor-%C3%AE-signaling-is-upregulated-in-sporadic-inclusion-body-myositis
#19
Seiya Noda, Haruki Koike, Shinya Maeshima, Hirotaka Nakanishi, Masahiro Iijima, Koji Matsuo, Seigo Kimura, Masahisa Katsuno, Gen Sobue
Introduction We examined whether transforming growth factor-β (TGF-β) signaling is dysregulated in sporadic inclusion body myositis (sIBM) muscle samples. Methods We examined TGF-β signaling markers in muscle samples from 24 sIBM patients and compared them with those from 10 dermatomyositis (DM) patients using immunohistochemistry and western blot analyses. Results Compared with the DM muscle fibers, the sIBM muscle fibers exhibited greater TGF-β, TGF-β receptor type I (TβRI), and TGF-β receptor type II (TβRII) immunoreactivity in the cytoplasm, as well as greater phosphorylated Smad2 (pSmad2) immunoreactivity in the myonuclei...
September 14, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27616487/sporadic-inclusion-body-myositis-recent-advances-and-the-state-of-the-art-in-2016
#20
L Gallay, P Petiot
Sporadic inclusion-body myositis (sIBM) is the most frequent myopathy after 50 years of age. As the clinical presentation may often be typical, pathological confirmation by muscle biopsy appears necessary, but sometimes difficult. Further delineation of the framework of this particular disease, especially during its early-onset stage, appears to be challenging. New classification of diagnostic criteria as well as the identification of new diagnostic hallmarks appear to be the two main tools towards to achieve this purpose...
October 2016: Revue Neurologique
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