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https://www.readbyqxmd.com/read/28716227/mitochondrial-trna-genes-are-hotspots-for-mutations-in-a-cohort-of-patients-with-exercise-intolerance-and-mitochondrial-myopathy
#1
Yuanyuan Lu, Danhua Zhao, Sheng Yao, Shiwen Wu, Daojun Hong, Qingqing Wang, Jing Liu, Jan A M Smeitink, Yun Yuan, Zhaoxia Wang
OBJECTIVE: Mitochondrial myopathy (MM) is a relatively rare type of mitochondrial disorder characterized by predominant skeletal muscle involvement. Both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) mutations have been reported as the genetic causes of this disease. Here, we described the clinical and genetic features of a cohort of patients with MM. METHODS: We conducted a retrospective, single center study enrolling 22 patients with clinically and myopathologically diagnosed MM...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28704562/cerebral-18f-fdg-pet-in-macrophagic-myofasciitis-an-individual-svm-based-approach
#2
Paul Blanc-Durand, Axel Van Der Gucht, Eric Guedj, Mukedaisi Abulizi, Mehdi Aoun-Sebaiti, Lionel Lerman, Antoine Verger, François-Jérôme Authier, Emmanuel Itti
INTRODUCTION: Macrophagic myofasciitis (MMF) is an emerging condition with highly specific myopathological alterations. A peculiar spatial pattern of a cerebral glucose hypometabolism involving occipito-temporal cortex and cerebellum have been reported in patients with MMF; however, the full pattern is not systematically present in routine interpretation of scans, and with varying degrees of severity depending on the cognitive profile of patients. Aim was to generate and evaluate a support vector machine (SVM) procedure to classify patients between healthy or MMF 18F-FDG brain profiles...
2017: PloS One
https://www.readbyqxmd.com/read/28687629/muscling-in-on-mitochondrial-sexual-dimorphism-role-of-mitochondrial-dimorphism-in-skeletal-muscle-health-and-disease
#3
COMMENT
Gareth A Nye, Giorgos K Sakellariou, Hans Degens, Adam P Lightfoot
Mitochondria are no longer solely regarded as the cellular powerhouse; instead, they are now implicated in mediating a wide-range of cellular processes, in the context of health and disease. A recent article in Clinical Science, Ventura-Clapier et al. highlights the role of sexual dimorphism in mitochondrial function in health and disease. However, we feel the authors have overlooked arguably one of the most mitochondria-rich organs in skeletal muscle. Many studies have demonstrated that mitochondria have a central role in mediating the pathogenesis of myopathologies...
August 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28677615/myopathology-of-adult-and-paediatric-mitochondrial-diseases
#4
REVIEW
Rahul Phadke
Mitochondria are dynamic organelles ubiquitously present in nucleated eukaryotic cells, subserving multiple metabolic functions, including cellular ATP generation by oxidative phosphorylation (OXPHOS). The OXPHOS machinery comprises five transmembrane respiratory chain enzyme complexes (RC). Defective OXPHOS gives rise to mitochondrial diseases (mtD). The incredible phenotypic and genetic diversity of mtD can be attributed at least in part to the RC dual genetic control (nuclear DNA (nDNA) and mitochondrial DNA (mtDNA)) and the complex interaction between the two genomes...
July 4, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28629674/cystinosis-distal-myopathy-novel-clinical-pathological-and-genetic-features
#5
Macarena Cabrera-Serrano, Reimar C Junckerstorff, Ali Alisheri, Alan Pestronk, Nigel G Laing, Conrad C Weihl, Phillipa J Lamont
Nephropathic cystinosis is an autosomal recessive lysosomal disease in which cystine cannot exit the lysosome to complete its degradation in the cytoplasm, thus accumulating in tissues. Some patients develop a distal myopathy involving mainly hand muscles. Myopathology descriptions from only 5 patients are available in the literature. We present a comprehensive clinical, pathological and genetic description of 3 patients from 2 families with nephropathic cystinosis. Intrafamiliar variability was detected in one family in which one sibling developed a severe distal myopathy while the other sibling did not show any signs of skeletal muscle involvement...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28602176/calpainopathy-with-macrophage-rich-regional-inflammatory-infiltrates
#6
Peter W Schutz, Renata S Scalco, Rita Barresi, Henry Houlden, Matthew Parton, Janice L Holton
Mutations in calpain-3 cause limb girdle muscular dystrophy 2A. Biopsy pathology is typically dystrophic, sometimes characterized by frequent lobulated fibres. More recently calpain mutations have been shown in association with eosinophilic myositis, suggesting that calpain mutations may render muscle susceptible to inflammatory change. We present the case of a 33-year old female with mild proximal muscle weakness and high CK levels (6698 IU/L at presentation). Muscle biopsy showed clusters of fibre necrosis associated with very dense macrophage infiltrates and small numbers of lymphocytes, raising the possibility of an inflammatory myopathy...
April 27, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28554942/msto1-is-a-cytoplasmic-pro-mitochondrial-fusion-protein-whose-mutation-induces-myopathy-and-ataxia-in-humans
#7
Aniko Gal, Peter Balicza, David Weaver, Shamim Naghdi, Suresh K Joseph, Péter Várnai, Tibor Gyuris, Attila Horváth, Laszlo Nagy, Erin L Seifert, Maria Judit Molnar, György Hajnóczky
The protein MSTO1 has been localized to mitochondria and linked to mitochondrial morphology, but its specific role has remained unclear. We identified a c.22G > A (p.Val8Met) mutation of MSTO1 in patients with minor physical abnormalities, myopathy, ataxia, and neurodevelopmental impairments. Lactate stress test and myopathological results suggest mitochondrial dysfunction. In patient fibroblasts, MSTO1 mRNA and protein abundance are decreased, mitochondria display fragmentation, aggregation, and decreased network continuity and fusion activity...
July 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28403181/mutational-spectrum-of-chinese-lgmd-patients-by-targeted-next-generation-sequencing
#8
Meng Yu, Yiming Zheng, Suqin Jin, Qiang Gang, Qingqing Wang, Peng Yu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang
This study aimed to study the diagnostic value of targeted next-generation sequencing (NGS) in limb-girdle muscular dystrophies (LGMDs), and investigate the mutational spectrum of Chinese LGMD patients. We performed targeted NGS covering 420 genes in 180 patients who were consecutively suspected of LGMDs and underwent muscle biopsies from January 2013 to May 2015. The association between genotype and myopathological profiles was analyzed in the genetically confirmed LGMD patients. With targeted NGS, one or more rare variants were detected in 138 patients, of whom 113 had causative mutations, 10 sporadic patients had one pathogenic heterozygous mutation related to a recessive pattern of LGMDs, and 15 had variants of uncertain significance...
2017: PloS One
https://www.readbyqxmd.com/read/28297097/recent-advances-in-myopathology
#9
EDITORIAL
Werner Stenzel, Hans-Hilmar Goebel
No abstract text is available yet for this article.
February 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28111795/myopathology-in-times-of-modern-imaging
#10
REVIEW
H Jungbluth
Over the last two decades, muscle (magnetic resonance) imaging has become an important complementary tool in the diagnosis and differential diagnosis of inherited neuromuscular disorders, particularly in conditions where the pattern of selective muscle involvement is often more predictive of the underlying genetic background than associated clinical and histopathological features. Following an overview of different imaging modalities, the present review will give a concise introduction to systematic image analysis and interpretation in genetic neuromuscular disorders...
February 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28009443/myopathology-in-the-times-of-modern-genetics
#11
REVIEW
M Schuelke, N C Øien, A Oldfors
The advent of Next Generation Sequencing (NGS) technologies has accelerated the rate of novel disease gene discovery. Analysis of the large datasets generated by whole exome sequencing, whole genome sequencing, and other NGS approaches poses a challenge to physicians and pathologists searching for disease causing variants amongst the 50 000-3 million polymorphisms typically seen in these datasets. This review describes strategies that successfully combine classical neuropathological investigation (e.g. histology, immunostaining and electron microscopy) with modern NGS technologies to pinpoint the underlying genetic cause of a disease...
February 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27976420/myopathology-in-congenital-myopathies
#12
REVIEW
C A Sewry, C Wallgren-Pettersson
Congenital myopathies are clinically and genetically a heterogeneous group of early onset neuromuscular disorders, characterized by hypotonia and muscle weakness. Clinical severity and age of onset are variable. Many patients are severely affected at birth while others have a milder, moderately progressive or nonprogressive phenotype. Respiratory weakness is a major clinical aspect that requires regular monitoring. Causative mutations in several genes have been identified that are inherited in a dominant, recessive or X-linked manner, or arise de novo...
February 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27692540/sporadic-inclusion-body-myositis-misdiagnosed-as-idiopathic-granulomatous-myositis
#13
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...
November 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27611456/clinicopathological-features-of-telbivudine-associated-myopathy
#14
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
https://www.readbyqxmd.com/read/27548653/the-role-of-myokines-in-muscle-health-and-disease
#15
REVIEW
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
https://www.readbyqxmd.com/read/27546599/a-novel-mutation-in-the-pdz-like-motif-of-zasp-causes-distal-zasp-related-myofibrillar-myopathy
#16
Junjun Zheng, Shuyun Chen, Yunqing Chen, Min Zhu, Daojun Hong 洪道俊
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...
February 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/27524195/-clinical-and-myopathological-features-of-jo-1-syndrome
#17
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]
https://www.readbyqxmd.com/read/27440146/neuromuscular-endplate-pathology-in-recessive-desminopathies-lessons-from-man-and-mice
#18
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
https://www.readbyqxmd.com/read/27439679/fkrp-mutations-including-a-founder-mutation-cause-phenotype-variability-in-chinese-patients-with-dystroglycanopathies
#19
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...
December 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/26821934/severe-sensory-neuropathy-in-patients-with-adult-onset-multiple-acyl-coa-dehydrogenase-deficiency
#20
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
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