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Total 11221 results found since Jan 2013.
NEB‐related core‐rod myopathy with distinct clinical and pathological features
This article is protected by copyright. All rights reserved.
Source: Muscle and Nerve - November 12, 2015 Category: Internal Medicine Authors: Young‐Eun Park, Jin‐Hong Shin, Boram Kang, Chang‐Hoon Lee, Dae‐Seong Kim Tags: Case of the Month Source Type: research
Absence of anti‐HMG‐CoA reductase autoantibodies in severe self‐limited statin‐related myopathy
Conclusion: Anti‐HMGCR autoantibody testing can be used to help differentiate whether a patient has self‐limited myopathy due to cerivastatin or autoimmune statin‐associated myopathy; these findings may apply to other statins as well. This article is protected by copyright. All rights reserved.
Source: Muscle and Nerve - March 30, 2016 Category: Internal Medicine Authors: James S Floyd, Jennifer A Brody, Eleni Tiniakou, Bruce M Psaty, Andrew Mammen Tags: Short Reports Source Type: research
Absence of anti–HMG‐CoA reductase autoantibodies in severe self‐limited statin‐related myopathy
Conclusion: Anti‐HMGCR autoantibody testing can be used to help differentiate whether a patient has self‐limited myopathy due to cerivastatin or autoimmune statin‐associated myopathy; these findings may apply to other statins as well. Muscle Nerve 54: 142–144, 2016
Source: Muscle and Nerve - June 13, 2016 Category: Internal Medicine Authors: James S. Floyd, Jennifer A. Brody, Eleni Tiniakou, Bruce M. Psaty, Andrew Mammen Tags: Short Reports Source Type: research
Proton Pump Inhibitors: Risk for Myopathy?
CONCLUSION: A limited body of published data suggests that PPI use has been associated with myopathy-like symptoms without long-term effects following discontinuation. Although myopathy is a rare adverse effect observed with PPIs, it can be a serious side effect to be considered when starting a patient on acid suppression therapy.
PMID: 27539734 [PubMed - as supplied by publisher]
Source: The Annals of Pharmacotherapy - August 17, 2016 Category: Drugs & Pharmacology Authors: Colmenares EW, Pappas AL Tags: Ann Pharmacother Source Type: research
Cancer association as a risk factor for anti-HMGCR antibody-positive myopathy
Conclusions:
Patients with cancer association formed a large group with poor prognosis in our series of patients with anti-HMGCR Ab+ myopathy. The close synchronous occurrence of cancers and myopathies suggested that cancer association is one of the risk factors for developing anti-HMGCR Ab+ myopathy.
Source: Neurology Neuroimmunology and Neuroinflammation - October 6, 2016 Category: Neurology Authors: Kadoya, M., Hida, A., Hashimoto Maeda, M., Taira, K., Ikenaga, C., Uchio, N., Kubota, A., Kaida, K., Miwa, Y., Kurasawa, K., Shimada, H., Sonoo, M., Chiba, A., Shiio, Y., Uesaka, Y., Sakurai, Y., Izumi, T., Inoue, M., Kwak, S., Tsuji, S., Shimizu, J. Tags: Autoimmune diseases, Muscle disease Article Source Type: research
Anti-HMG-CoA reductase necrotizing myopathy: A report of 4 cases.
CONCLUSION: An early diagnosis of this myopathy is necessary in order to introduce an immunotherapy associated with a close monitoring. The therapeutic strategy (within which the stead of intravenous immunoglobulin seems increased) remains to be defined and long-term prospective studies are thus needed.
PMID: 27876175 [PubMed - as supplied by publisher]
Source: Revue de Medecine Interne - November 25, 2016 Category: Internal Medicine Tags: Rev Med Interne Source Type: research
Statin-associated immune-mediated myopathy: biology and clinical implications
Purpose of review: In the last 6 years, our understanding of statin-associated myopathy expanded to include not only a toxic myopathy with limited and reversible side-effects but also an autoimmune variety in which statins likely induce an autoimmune myopathy that is both associated with a specific autoantibody and responsive to immunosuppression and immune modulation. This review widens the reader's understanding of statin myopathy to include an autoimmune process.
Recent findings: Statin-associated immune-mediated myopathy provides an example of an environmental trigger (statins) directly implicated in an autoimmune dis...
Source: Current Opinion in Lipidology - March 10, 2017 Category: Lipidology Tags: GENETICS AND MOLECULAR BIOLOGY: Edited by Robert A. Hegele Source Type: research
Amyloid Myopathy as an Inclusion Body Myositis Mimic (P2.127)
Conclusions:Amyloid myopathy may clinically mimic IBM and manifest as the initial presentation of primary systemic amyloidosis. In the absence of clinical and electromyographic myotonia, muscle biopsy is of critical importance in the evaluation of patients with Myopathy Pattern 4.Disclosure: Dr. Hamasaki has nothing to disclose. Dr. Dimachkie has received personal compensation for activities with Pfizer, Depomed, Merck, CSL-Behring, Nufactor, Biomarin, Baxter and Catalyst as a consultant and/or speaker. Dr. Pasnoor has nothing to disclose. Dr. Statland has received personal compensation for activities with Sarepta, ATYR Br...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Hamasaki, A., Dimachkie, M., Pasnoor, M., Statland, J., Jawdat, O., Barohn, R., Glenn, M., Herbelin, L. Tags: Myopathies & amp;amp; Myasthenia Gravis II Source Type: research
Mitochondrial Skeletal and Cardiac Myopathy Responsive to Aggressive Immunosuppression in Rapidly Progressing Systemic Sclerosis (P5.077)
Conclusions:Perivascular epimysial inflammation is rarely seen in any disease. Mitochondrial myopathy without myositis has not been reported in systemic sclerosis. We propose that ischemia caused by vasculopathy and fibrosis in systemic sclerosis, together with subclinical mitochondrial pathology, severely affected skeletal and cardiac muscle due to their high metabolic demands. An unusual presentation of myopathy in autoimmune disease suggests an underlying latent pathology, such as mitochondrial myopathy. Rapidly progressing autoimmune disease necessitates aggressive immunosuppression.Disclosure: Dr. Yeo has nothing to d...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Yeo, C., Bunin, V., Jovan, P., Cykowski, M., Smith, R. Tags: Neuromuscular and Clinical Neurophysiology (EMG) ePoster Session Source Type: research
Phenotypic stratification and genotype –phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion
GNE myopathy has been originally described under several names: hereditary inclusion body myopathy (HIBM), distal myopathy with rimmed vacuoles (DMRV), quadriceps sparing myopathy (QSM) and Nonaka disease-reflecting clinical and biopsy presentation, genetic cause and history of discovery [1,2]. It is a rare autosomal recessive myopathy caused by bi-allelic mutations in the GNE gene (UDP-N-acetyl-2-epimerase/N-acetylmannosamine kinase). Recently, GNE myopathy is the agreed term to name the condition, and the longest transcript of the GNE gene (hGNE2) is used for variant and mutation annotation [3].
Source: Neuromuscular Disorders - November 14, 2017 Category: Neurology Authors: Oksana Pogoryelova, Phillip Cammish, Hank Mansbach, Zohar Argov, Ichizo Nishino, Alison Skrinar, Yiumo Chan, Shahriar Nafissi, Hosein Shamshiri, Emil Kakkis, Hanns Lochm üller Source Type: research
Polyneuropathy and myopathy in beta-thalassemia major patients
AbstractThe thalassemias are the most common single gene disorder in the world. Nowadays, the average life expectancy of patients in developed countries has increased significantly, while, there was an increase of complications. We aimed to investigate peripheral neuropathy and myopathy in this patient group using a neurophysiological study. We performed nerve conduction studies and electromyography of upper and lower extremities on 36 beta-thalassemia major ( β-thal) patients. The electrophysiological findings were correlated with demographic data and laboratory parameters of the disease. Patients with β-thal present po...
Source: Annals of Hematology - March 29, 2018 Category: Hematology Source Type: research
Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene
To date, more than 200 different pathogenic variants have been identified in the α-actin 1 gene (ACTA1). The vast majority, over 170 of these disease-causing variants, cause nemaline myopathy (NM), but variants in ACTA1 may cause a wide spectrum of myopathies, clinically varying from lethal fetal akinesia to disorders with mild muscle weakness [1,2]. In addition to NM, ACTA1 my opathies include actin myopathy, cap myopathy, congenital fibre-type disproportion, core-rod myopathy, intranuclear rod myopathy, zebra body myopathy, and progressive scapuloperoneal myopathy.
Source: Neuromuscular Disorders - December 25, 2017 Category: Neurology Authors: Vilma-Lotta Lehtokari, Maria Gardberg, Katarina Pelin, Carina Wallgren-Pettersson Tags: Case report Source Type: research
Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.
This study not only broadens allelic spectrum of pathogenic COL6A3 variants in myopathy, but also gives an additional support to Ullrich congenital muscular dystrophy Bethlem myopathy clinical continuum.
PMID: 29894794 [PubMed - as supplied by publisher]
Source: Gene - June 9, 2018 Category: Genetics & Stem Cells Authors: Marakhonov AV, Tabakov VY, Zernov NV, Dadali EL, Sharkova IV, Skoblov MY Tags: Gene Source Type: research
Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.
This study aimed to identify the disease-causing mutation in a three-generation Han-Chinese family with members who have been diagnosed with myopathy. A homozygous missense mutation, c.1627G>A (p.V543M) in the GNE gene co-segregates with the myopathy present in this family. A GNE myopathy diagnosis is evidenced by characteristic clinical manifestations, rimmed vacuoles in muscle biopsies and the presence of biallelic GNE mutations. This finding broadens the GNE gene mutation spectrum and extends the GNE myopathy phenotype spectrum.
PMID: 30160005 [PubMed - as supplied by publisher]
Source: J Cell Mol Med - August 29, 2018 Category: Molecular Biology Authors: Wu Y, Yuan L, Guo Y, Lu A, Zheng W, Xu H, Yang Y, Hu P, Gu S, Wang B, Deng H Tags: J Cell Mol Med Source Type: research
Effect of Transcutaneous Electrical Neuromuscular Stimulation on Myopathy in Intensive Care Patients.
CONCLUSION: TENMS had no significant impact on myopathy in the critically ill patients in this study.
PMID: 30385541 [PubMed - in process]
Source: American Journal of Critical Care - November 1, 2018 Category: Nursing Authors: Koutsioumpa E, Makris D, Theochari A, Bagka D, Stathakis S, Manoulakas E, Sgantzos M, Zakynthinos E Tags: Am J Crit Care Source Type: research
