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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
Tomica Ambang, Joo-San Tan, Sheila Ong, Kum-Thong Wong, Khean-Jin Goh
Telbivudine, a thymidine nucleoside analog, is a common therapeutic option for chronic hepatitis B infection. While raised serum creatine kinase is common, myopathy associated with telbivudine is rare. Reports on its myopathological features are few and immunohistochemical analyses of inflammatory cell infiltrates have not been previously described. We describe the clinical, myopathological and immunohistochemical features of four patients who developed myopathy after telbivudine therapy for chronic hepatitis B infection...
2016: PloS One
Adam P Lightfoot, Robert G Cooper
PURPOSE OF REVIEW: This article updates on the concept that muscle-derived cytokines (myokines) play important roles in muscle health and disease. RECENT FINDINGS: Interleukin-6 (IL-6) is released from normal skeletal muscle in response to exercise, mediating both anti-inflammatory responses and metabolic adaptations, actions contradictory to the prevailing view that IL-6 is a proinflammatory cytokine that is inducing and propagating disease. The anti-inflammatory effects of IL-6 result from its trans-membrane signalling capability, via membrane-bound receptors, whereas its proinflammatory effects result instead from signalling via the soluble IL-6 receptor and gp130...
November 2016: Current Opinion in Rheumatology
Junjun Zheng, Shuyun Chen, Yunqing Chen, Min Zhu, Daojun Hong
Mutations in the LDB3 gene have been identified in patients with Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP)-related myofibrillar myopathy (ZASP-MFM) characterized by late-onset distal myopathy with signs of cardiomyopathy and neuropathy. We describe an autosomal dominant inherited pedigree with ZASP-MFM that is in line with the typical phenotype of distal myopathy without cardiomyopathy and neuropathy, while mild asymmetrical muscle atrophy can be observed in some affected members...
August 21, 2016: Neuropathology: Official Journal of the Japanese Society of Neuropathology
L C Meng, Y Li, W Zhang, H J Hao, F Gao, Y Yuan
OBJECTIVE: To report the clinical and myopathological features of 16 patients with Jo-1 syndrome. METHODS: Sixteen patients were recruited in this study, who were diagnosed as Jo-1 syndrome in Department of Neurology of Peking University First Hospital from January, 2011 to July, 2015. The clinical data and myopathological data were analyzed. RESULTS: The mean onset age was 41±14 (21-68) years old. 87.5% was female. The median duration was 9...
August 2, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Hacer Durmuş, Özgecan Ayhan, Sebahattin Çırak, Feza Deymeer, Yeşim Parman, Andre Franke, Nane Eiber, Frederic Chevessier, Ursula Schlötzer-Schrehardt, Christoph S Clemen, Said Hashemolhosseini, Rolf Schröder, Georg Hemmrich-Stanisak, Aslıhan Tolun, Piraye Serdaroğlu-Oflazer
OBJECTIVE: To assess the clinical, genetic, and myopathologic findings in 2 cousins with lack of desmin, the response to salbutamol in one patient, and the neuromuscular endplate pathology in a knock-in mouse model for recessive desminopathy. METHODS: We performed clinical investigations in the patients, genetic studies for linkage mapping, exome sequencing, and qPCR for transcript quantification, assessment of efficacy of (3-month oral) salbutamol administration by muscle strength assessment, 6-minute walking test (6MWT), and forced vital capacity, analysis of neuromuscular endplate pathology in a homozygous R349P desmin knock-in mouse by immunofluorescence staining of the hind limb muscles, and quantitative 3D morphometry and expression studies of acetylcholine receptor genes by quantitative PCR...
August 23, 2016: Neurology
Xiaona Fu, Haipo Yang, Cuijie Wei, Hui Jiao, Shuo Wang, Yanling Yang, Chunxi Han, Xiru Wu, Hui Xiong
Mutations in the fukutin-related protein (FKRP) gene have been associated with dystroglycanopathies, which are common in Europe but rare in Asia. Our study aimed to retrospectively analyze and characterize the clinical, myopathological and genetic features of 12 Chinese patients with FKRP mutations. Three patients were diagnosed with congenital muscular dystrophy type 1C (MDC1C) and nine patients were diagnosed with limb girdle muscular dystrophy type 2I (LGMD2I). Three muscle biopsy specimens had dystrophic changes and reduced glycosylated α-dystroglycan staining, and two showed reduced expression of laminin α2...
July 21, 2016: Journal of Human Genetics
Zhaoxia Wang, Daojun Hong, Wei Zhang, Wurong Li, Xin Shi, Danhua Zhao, Xu Yang, He Lv, Yun Yuan
Multiple Acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid oxidation. Most patients with late-onset MADD are clinically characterized by lipid storage myopathy with dramatic responsiveness to riboflavin treatment. Abnormalities of peripheral neuropathy have rarely been reported in patients with late-onset MADD. We describe six patients who presented with proximal limb weakness and loss of sensation in the distal limbs. Muscle biopsy revealed typical myopathological patterns of lipid storage myopathy and blood acylcarnitine profiles showed a combined elevation of multiple acylcarnitines supporting the diagnosis of MADD...
February 2016: Neuromuscular Disorders: NMD
Laxmikanth Kollipara, Stephan Buchkremer, Joachim Weis, Eva Brauers, Mareike Hoss, Stephan Rütten, Pablo Caviedes, René P Zahedi, Andreas Roos
Studying (neuro)muscular disorders is a major topic in biomedicine with a demand for suitable model systems. Continuous cell culture (in vitro) systems have several technical advantages over in vivo systems and became widely used tools for discovering physiological/pathophysiological mechanisms in muscle. In particular, myoblast cell lines are suitable model systems to study complex biochemical adaptations occurring in skeletal muscle and cellular responses to altered genetic/environmental conditions. Whereas most in vitro studies use extensively characterized murine C2C12 cells, a comprehensive description of an equivalent human cell line, not genetically manipulated for immortalization, is lacking...
March 4, 2016: Journal of Proteome Research
Yung-Ting Kuo, Ping-Hsiao Shih, Shu-Huei Kao, Geng-Chang Yeh, Horng-Mo Lee
Denervation-mediated skeletal muscle atrophy results from the loss of electric stimulation and leads to protein degradation, which is critically regulated by the well-confirmed transcriptional co-activator peroxisome proliferator co-activator 1 alpha (PGC-1α). No adequate treatments of muscle wasting are available. Pyrroloquinoline quinone (PQQ), a naturally occurring antioxidant component with multiple functions including mitochondrial modulation, demonstrates the ability to protect against muscle dysfunction...
2015: PloS One
Cyril Gitiaux, Marie De Antonio, Jessie Aouizerate, Romain K Gherardi, Thomas Guilbert, Christine Barnerias, Christine Bodemer, Karine Brochard-Payet, Pierre Quartier, Lucile Musset, Bénédicte Chazaud, Isabelle Desguerre, Brigitte Bader-Meunier
OBJECTIVE: Outcome of JDM is highly heterogeneous. Our objective was to determine clinical and muscle biopsy features associated with poor outcome and response to treatment. METHODS: Clinical data and muscle biopsy were obtained from a monocentric cohort of 29 patients. Clinical subgroups were defined by latent class model analysis of initial and follow-up parameters. Myopathological features were analysed using validated scores. Capillary loss was determined on reconstructions of transversal sections and assessed in the different age groups to take into account variations of muscle capillarization during post-natal development...
March 2016: Rheumatology
Adam P Lightfoot, Kanneboyina Nagaraju, Anne McArdle, Robert G Cooper
PURPOSE OF REVIEW: Discussion of endoplasmic reticulum (ER) stress pathway activation in idiopathic inflammatory myopathies (IIM), and downstream mechanisms causative of muscle weakness. RECENT FINDINGS: In IIM, ER stress is an important pathogenic process, but how it causes muscle dysfunction is unknown. We discuss relevant pathways modified in response to ER stress in IIM: reactive oxygen species (ROS) generation and mitochondrial dysfunction, and muscle cytokine (myokine) generation...
November 2015: Current Opinion in Rheumatology
Ashling Holland, Sandra Murphy, Paul Dowling, Kay Ohlendieck
The gradual accumulation of collagen and associated proteins of the extracellular matrix is a crucial myopathological parameter of many neuromuscular disorders. Progressive tissue damage and fibrosis play a key pathobiochemical role in the dysregulation of contractile functions and often correlates with poor motor outcome in muscular dystrophies. Following a brief introduction into the role of the extracellular matrix in skeletal muscles, we review here the proteomic profiling of myofibrosis and its intrinsic role in X-linked muscular dystrophy...
January 2016: Proteomics
Yufen Peng, Min Zhu, Junjun Zheng, Yuanzhao Zhu, Xiaobing Li, Caixia Wei, Daojun Hong
BACKGROUND: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive inherited disease of metabolic dysfunction clinically characterized by fluctuating proximal muscle weakness, excise intolerance, and dramatic riboflavin responsiveness. Dropped head syndrome can occasionally be observed in some severe patients with late-onset MADD; however, bent spine syndrome as an initial symptom had not been reported in patients with late-onset MADD. CASE PRESENTATION: A 46-year-old man lost the ability to hold his trunk upright, and had difficulty in raising his head, but he had no obvious symptoms of limb weakness...
2015: BMC Neurology
Kenji Sakai, Yoshihisa Ikeda, Chiho Ishida, Yasuko Matsumoto, Kenjiro Ono, Kazuo Iwasa, Masahito Yamada
Inclusion body myositis is a form of inflammatory myopathy. We identified 4 cases of inclusion body myositis showing granuloma formation in muscle tissue and aimed to assess the features of this atypical form of inclusion body myositis. We retrospectively reviewed consecutive patients who satisfied European Neuromuscular Centre IBM Research Diagnostic Criteria 2011. Then, we assessed clinical profiles and pathological findings in patients with inclusion body myositis with granuloma and compared these findings with those of typical inclusion body myositis without granuloma...
September 2015: Neuromuscular Disorders: NMD
Dandan Tan, Haipo Yang, Yun Yuan, Carsten Bonnemann, Xingzhi Chang, Shuang Wang, Yuchen Wu, Xiru Wu, Hui Xiong
This study aimed to analyze the correlation between the phenotype and genotype of Chinese patients with early-onset lamin A (LMNA)-related muscular dystrophy (MD). The clinical and myopathological data of 21 Chinese pediatric patients with early-onset LMNA-related MD were collected and analyzed. LMNA gene mutation analysis was performed by direct sequencing of genomic DNA. Sublocalization of wild-type and mutant proteins were observed by immunofluorescence using cultured fibroblasts and human embryonic kidney 293 (HEK 293) cell...
2015: PloS One
Ali Alshehri, Rati Choksi, Robert Bucelli, Alan Pestronk
OBJECTIVE: To analyze clinical features and myopathology changes in muscle fibers, connective tissue, and vessels in 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibody-associated myopathies. METHODS: Retrospective review of records and myopathologic features of 49 consecutive patients with myopathies and serum HMGCR antibodies. RESULTS: Clinical features included onset age from 12 to 83 years, female predominance (67%), proximal, symmetric weakness (84%), muscle discomfort (78%), dysphagia (35%), systemic features, including skin rash and interstitial lung disease (37%), statin use (38%), and a high serum creatine kinase (83%)...
August 2015: Neurology® Neuroimmunology & Neuroinflammation
Adam P Lightfoot, Anne McArdle, Malcolm J Jackson, Robert G Cooper
The idiopathic inflammatory myopathies (IIMs) are a group of rare autoimmune disorders, collectively known as myositis. Affected patients present with proximal muscle weakness, which usually improves following treatment with immunosuppressants, but often incompletely so, thus many patients remain weak. IIMs are characterised histologically by inflammatory cell infiltrates into skeletal muscle and overexpression of major histocompatibility complex I on muscle cell surfaces. Although inflammatory cell infiltrates represent a major feature of myositis there is growing evidence that muscle weakness correlates only poorly with the degree of cellular infiltration, while weakness may in fact precede such infiltrations...
July 2015: Annals of the Rheumatic Diseases
Juan Zhao, Jing Liu, Jiangxi Xiao, Jing Du, Chengli Que, Xin Shi, Wei Liang, Weiping Sun, Wei Zhang, He Lv, Yun Yuan, Zhaoxia Wang
Oculopharyngodistal myopathy (OPDM) is an extremely rare, adult-onset hereditary muscular disease characterized by progressive external ocular, pharyngeal, and distal muscle weakness and myopathological rimmed vacuole changes. The causative gene is currently unknown; therefore, diagnosis of OPDM is based on clinical and histopathological features and genetic exclusion of similar conditions. Moreover, variable manifestations of this disorder are reported in terms of muscle involvement and severity. We present the clinical profile and magnetic resonance imaging (MRI) changes of lower limb muscles in 14 mainland Chinese patients with OPDM, emphasizing the role of muscle MRI in disease identification and differential diagnosis...
2015: PloS One
Gauthier Remiche, Hazim Kadhim, Marc Abramowicz, Nicolas Mavroudakis, Nicole Monnier, Joël Lunardi
We report a novel and particularly unusual type of mutation, namely, large deletion in the RYR1 gene, in a Belgian family with myopathy: Patients were found to be compound heterozygous and presented a clinico-pathological phenotype characterized by late-onset and recessive myopathy with cores. We depict the clinical, electrophysiological, pathological and molecular genetic characteristics of family members. To date, large deletions in the RYR1 gene have been reported in only two cases. Both involved different mutations and, in sharp contrast to our cases, presented with a very early-onset, neonatal, and a very severe or lethal phenotype...
May 2015: Neuromuscular Disorders: NMD
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