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inclusive body myositis

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https://www.readbyqxmd.com/read/28915917/translocation-of-molecular-chaperones-to-the-titin-springs-is-common-in-skeletal-myopathy-patients-and-affects-sarcomere-function
#1
Andreas Unger, Lisa Beckendorf, Pierre Böhme, Rudolf Kley, Marion von Frieling-Salewsky, Hanns Lochmüller, Rolf Schröder, Dieter O Fürst, Matthias Vorgerd, Wolfgang A Linke
Myopathies encompass a wide variety of acquired and hereditary disorders. The pathomechanisms include structural and functional changes affecting, e.g., myofiber metabolism and contractile properties. In this study, we observed increased passive tension (PT) of skinned myofibers from patients with myofibrillar myopathy (MFM) caused by FLNC mutations (MFM-filaminopathy) and limb-girdle muscular dystrophy type-2A due to CAPN3 mutations (LGMD2A), compared to healthy control myofibers. Because the giant protein titin determines myofiber PT, we measured its molecular size and the titin-to-myosin ratio, but found no differences between myopathies and controls...
September 15, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28877943/systematic-review-of-the-evidence-on-orthotic-devices-for-the-management-of-knee-instability-related-to-neuromuscular-and-central-nervous-system-disorders
#2
Catriona McDaid, Debra Fayter, Alison Booth, Joanne O'Connor, Rocio Rodriguez-Lopez, Dorothy McCaughan, Roy Bowers, Cynthia P Iglesias, Simon Lalor, Rory J O'Connor, Margaret Phillips, Gita Ramdharry
OBJECTIVES: To assess the effectiveness of orthotic devices for the management of instability of the knee in adults with a neuromuscular disorder or central nervous system disorder. DESIGN: A systematic review of primary studies. SETTING: Community. PARTICIPANTS: Adults with a neuromuscular disorder or central nervous system disorder and impaired walking ability due to instability of the knee. INTERVENTIONS: Orthoses with the clinical aim of controlling knee instability, for example, knee-ankle-foot orthoses, ankle-foot orthoses and knee orthoses or mixed design with no restrictions in design or material...
September 5, 2017: BMJ Open
https://www.readbyqxmd.com/read/28870555/botulinum-toxin-alleviates-dysphagia-of-patients-with-inclusion-body-myositis
#3
Aleksi Schrey, Laura Airas, Manu Jokela, Jaakko Pulkkinen
OBJECTIVES: Oropharyngeal dysphagia is a disabling and undertreated symptom that often occurs in patients with sporadic inclusion body myositis (s-IBM). In this study, we examined the effect of botulinum neurotoxin A (BoNT-A) injections to the cricopharyngeus muscle (CPM) of patients with s-IBM and dysphagia. PATIENTS, MATERIALS AND METHODS: A single-center retrospective study involving 40 biopsy-proven s-IBM-patients treated in the District of Southwest Finland from 2000 to 2013...
September 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28857524/concomitant-occurrence-of-fxtas-and-clinically-defined-sporadic-inclusion-body-myositis-report-of-two-cases
#4
Mirna Lechpammer, Verónica Martínez Cerdeńo, Michael Ryan Hunsaker, Mina Hah, Hilary Gonzales, Steve Tisch, Ronald Joffe, Roger Pamphlett, Flora Tassone, Paul J Hagerman, Samuel J Bolitho, Randi J Hagerman
This report describes unique presentations of inclusion body myositis (IBM) in two unrelated patients, one male and one female, with genetically and histologically confirmed fragile X-associated tremor/ataxia syndrome (FXTAS). We summarize overlapping symptoms between two disorders, clinical course, and histopathological analyses of the two patients with FXTAS and sporadic IBM, clinically defined per diagnostic criteria of the European Neuromuscular Centre. In case 1, a post-mortem analysis of available brain and muscle tissues is also described...
August 31, 2017: Croatian Medical Journal
https://www.readbyqxmd.com/read/28855174/the-euromyositis-registry-an-international-collaborative-tool-to-facilitate-myositis-research
#5
James B Lilleker, Jiri Vencovsky, Guochun Wang, Lucy R Wedderburn, Louise Pyndt Diederichsen, Jens Schmidt, Paula Oakley, Olivier Benveniste, Maria Giovanna Danieli, Katalin Danko, Nguyen Thi Phuong Thuy, Monica Vazquez-Del Mercado, Helena Andersson, Boel De Paepe, Jan L deBleecker, Britta Maurer, Liza J McCann, Nicolo Pipitone, Neil McHugh, Zoe E Betteridge, Paul New, Robert G Cooper, William E Ollier, Janine A Lamb, Niels Steen Krogh, Ingrid E Lundberg, Hector Chinoy
AIMS: The EuroMyositis Registry facilitates collaboration across the idiopathic inflammatory myopathy (IIM) research community. This inaugural report examines pooled Registry data. METHODS: Cross-sectional analysis of IIM cases from 11 countries was performed. Associations between clinical subtypes, extramuscular involvement, environmental exposures and medications were investigated. RESULTS: Of 3067 IIM cases, 69% were female. The most common IIM subtype was dermatomyositis (DM) (31%)...
August 30, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28854220/automated-diagnosis-of-myositis-from-muscle-ultrasound-exploring-the-use-of-machine-learning-and-deep-learning-methods
#6
Philippe Burlina, Seth Billings, Neil Joshi, Jemima Albayda
OBJECTIVE: To evaluate the use of ultrasound coupled with machine learning (ML) and deep learning (DL) techniques for automated or semi-automated classification of myositis. METHODS: Eighty subjects comprised of 19 with inclusion body myositis (IBM), 14 with polymyositis (PM), 14 with dermatomyositis (DM), and 33 normal (N) subjects were included in this study, where 3214 muscle ultrasound images of 7 muscles (observed bilaterally) were acquired. We considered three problems of classification including (A) normal vs...
2017: PloS One
https://www.readbyqxmd.com/read/28834558/abstracts
#7
E Cotzomi, K D Petschke, K C O'Connor, A D Paltiel
INTRODUCTION: The Inclusion Body Myositis (IBM) Registry at Yale is the largest systematic categorization of IBM, consolidating demographic, natural history, and clinical management data collected from 916 patients via a self-reporting questionnaire. OBJECTIVE/METHODS: To expand and improve registry resources. The registry aims to inform patients about IBM using online tools and information disseminated via social media. For clinicians and researchers, this project aims to establish a platform for longitudinal data collection and a patient biorepository to support laboratory research...
August 23, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28832350/which-nonautoimmune-myopathies-are-most-frequently-misdiagnosed-as-myositis
#8
Andrew L Mammen
PURPOSE OF REVIEW: To discuss the spectrum of nonautoimmune myopathies that may be misdiagnosed as autoimmune myopathy. RECENT FINDINGS: Inherited myopathies, such as dysferlinopathy, calpainopathy, and facioscapulohumeral dystrophy may be misdiagnosed as autoimmune myopathy, especially when they have inflammatory muscle biopsies. Inclusion body myositis is frequently misdiagnosed as polymyositis when rimmed vacuoles are absent on muscle biopsy, and a careful neuromuscular evaluation is not performed...
August 19, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28832349/inclusion-body-myositis-advancements-in-diagnosis-pathomechanisms-and-treatment
#9
Karsten Schmidt, Jens Schmidt
PURPOSE OF REVIEW: To review new advances in inclusion body myositis (IBM) and discuss them in light of current knowledge on diagnosis, pathomechanisms, and treatment perspectives. RECENT FINDINGS: IBM is a treatment refractory inflammatory myopathy in middle-aged patients that leads to a slow, relentlessly progressive muscle weakness, and atrophy. Recent data collections suggest that mortality in IBM patients is somewhat elevated compared with the general population...
August 19, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28808260/transcriptional-profiling-identifies-differential-expression-of-long-non-coding-rnas-in-jo-1-associated-and-inclusion-body-myositis
#10
Philip D Hamann, Benoit T Roux, James A Heward, Seth Love, Neil J McHugh, Simon W Jones, Mark A Lindsay
Myositis is characterised by muscle inflammation and weakness. Although generally thought to be driven by a systemic autoimmune response, increasing evidence suggests that intrinsic changes in the muscle might also contribute to the pathogenesis. Long non-coding RNAs (lncRNAs) are a family of novel genes that regulate gene transcription and translation. To determine the potential role of lncRNAs, we employed next generation sequencing to examine the transcriptome in muscle biopsies obtained from two histologically distinct patient populations, inclusion body myositis (IBM) and anti-Jo-1-associated myositis (Jo-1)...
August 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28796006/novel-insights-of-disability-assessment-in-adult-myositis
#11
Hector Fabricio Espinosa-Ortega, Mariana Moreno-Ramirez, Helene Alexanderson
PURPOSE OF REVIEW: To review the novel development of standardized clinical outcome measures used in adult patients with idiopathic inflammatory myopathies (IIMs). A further aim was to determine what aspects of IIM are covered by these outcome measures according to the International Classification of Functioning, Disability and Health (ICF). RECENT FINDINGS: The sporadic inclusion body myositis functional assessment (sIFA) is the first diagnosis-specific patient-driven patient-reported outcome measure...
August 8, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28794251/clinicopathologic-features-of-myositis-patients-with-cd8-mhc-1-complex-pathology
#12
Chiseko Ikenaga, Akatsuki Kubota, Masato Kadoya, Kenichiro Taira, Naohiro Uchio, Ayumi Hida, Meiko Hashimoto Maeda, Yu Nagashima, Hiroyuki Ishiura, Kenichi Kaida, Jun Goto, Shoji Tsuji, Jun Shimizu
OBJECTIVE: To determine the clinical features of myositis patients with the histopathologic finding of CD8-positive T cells invading non-necrotic muscle fibers expressing major histocompatibility complex class 1 (CD8-MHC-1 complex), which is shared by polymyositis (PM) and inclusion body myositis (IBM), in relation to the p62 immunostaining pattern of muscle fibers. METHODS: All 93 myositis patients with CD8-MHC-1 complex who were referred to our hospital from 1993 to 2015 were classified on the basis of the European Neuromuscular Center (ENMC) diagnostic criteria for IBM (Rose, 2013) or PM (Hoogendijk, 2004) and analyzed...
September 5, 2017: Neurology
https://www.readbyqxmd.com/read/28780890/a-rare-association-of-anti-alanine-transfer-rna-synthetase-anti-pl12-syndrome-and-sporadic-inclusion-body-myositis
#13
M Giannini, L Macchia, A Amati, A Lia, F Girolamo, D D'Abbicco, M Trojano, F Iannone
No abstract text is available yet for this article.
August 5, 2017: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/28777108/genetics-in-inclusion-body-myositis
#14
Simon Rothwell, James B Lilleker, Janine A Lamb
PURPOSE OF REVIEW: To review the advances in our understanding of the genetics of inclusion body myositis (IBM) in the past year. RECENT FINDINGS: One large genetic association study focusing on immune-related genes in IBM has refined the association within the human leukocyte antigen (HLA) region to HLA-DRB1 alleles, and identified certain amino acid positions in HLA-DRB1 that may explain this risk. A suggestive association with CCR5 may indicate genetic overlap with other autoimmune diseases...
August 1, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28763333/recent-clinical-trials-in-idiopathic-inflammatory-myopathies
#15
Valérie Leclair, Ingrid E Lundberg
PURPOSE OF REVIEW: Idiopathic inflammatory myopathies (IIMs) are complex multisystemic autoimmune diseases. Glucocorticoids remain the cornerstone of treatment in IIM, and the benefit of additional immunosuppressors is still debated. A limited number of controlled clinical trials have been available to support treatment guidelines, but in the last year, several clinical trials have been published. In this review, the highlights of recently published and on-going clinical trials in IIM will be summarized and discussed...
July 29, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28738907/rig-i-expression-in-perifascicular-myofibers-is-a-reliable-biomarker-of-dermatomyositis
#16
Xavier Suárez-Calvet, Eduard Gallardo, Iago Pinal-Fernandez, Noemi De Luna, Cinta Lleixà, Jordi Díaz-Manera, Ricardo Rojas-García, Ivan Castellví, M Angeles Martínez, Josep M Grau, Albert Selva-O'Callaghan, Isabel Illa
BACKGROUND: Dermatomyositis (DM) is inflammatory myopathy or myositis characterized by muscle weakness and skin manifestations. In the differential diagnosis of DM the evaluation of the muscle biopsy is of importance among other parameters. Perifascicular atrophy in the muscle biopsy is considered a hallmark of DM. However, perifascicular atrophy is not observed in all patients with DM and, conversely, perifascicular atrophy can be observed in other myositis such as antisynthetase syndrome (ASS), complicating DM diagnosis...
July 24, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28726537/a-case-of-inclusion-body-myositis-complicated-by-microscopic-polyangiitis
#17
S Yamada, H Yamashita, K Taira, A Hida, N Arai, J Shimizu, Y Miyaji, M Sonoo, A Yashima, Y Takahashi, H Kaneko
No abstract text is available yet for this article.
July 20, 2017: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/28724966/acetylation-induced-tdp-43-pathology-is-suppressed-by-an-hsf1-dependent-chaperone-program
#18
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/28709849/effects-of-huperzin-a-on-the-beta-amyloid-accumulation-in-the-brain-and-skeletal-muscle-cells-of-a-rat-model-for-alzheimer-s-disease
#19
Cagatay Han Turkseven, Belgin Buyukakilli, Ebru Balli, Derya Yetkin, Mehmet Emin Erdal, Senay Gorucu Yilmaz, Leyla Sahin
AIMS: Alzheimer's Disease (AD) is characterized by a loss of cognitive function and also the accumulation of β-amyloid peptide (βAP) in the brain parenchyma, which plays an important role in this disease. However, it is often also associated with the non-cognitive symptoms such as loss of muscle function (Inclusion-Body Myositis-IBM). MAIN METHODS: Sprague-Dawley rats (13 weeks-n=68) were randomly assigned into five groups: Group C: Control; Group D: d-galactose; Group O+D: Bilateral oophorectomy+d-galactose; Group O: Bilateral oophorectomy; Group O+D+H: Bilateral oophorectomy+d-galactose+Hup-A...
September 1, 2017: Life Sciences
https://www.readbyqxmd.com/read/28687351/prevalence-of-anti-nt5c1a-antibodies-in-japanese-patients-with-autoimmune-rheumatic-diseases-in-comparison-with-other-patient-cohorts
#20
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
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