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https://www.readbyqxmd.com/read/28224701/pathogenic-role-of-anti-srp-and-anti-hmgcr-antibodies-in-necrotizing-myopathies-myofiber-atrophy-and-impairment-of-muscle-regeneration-in-necrotizing-autoimmune-myopathies
#1
Louiza Arouche-Delaperche, Yves Allenbach, Damien Amelin, Corinna Preusse, Vincent Mouly, Wladimir Mauhin, Gaelle Dzangue Tchoupou, Laurent Drouot, Olivier Boyer, Werner Stenzel, Gillian Butler-Browne, Olivier Benveniste
OBJECTIVE: Immune mediated necrotizing myopathies (IMNM) may be associated with either anti-SRP or anti-HMGCR antibodies (Abs) and the titer of these Abs is correlated with the disease activity. We investigated if anti-SRP and anti-HMGCR Abs could be involved in muscle damages. METHODS: Muscle biopsies of patients were analyzed for atrophy and regeneration, by measuring the fibers size and by performing immunostaining of neonatal myosin heavy chain. To further understand the role of the Abs in the pathology, we performed muscle cell co-culture with the Abs...
February 22, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28224639/rigid-spine-syndrome-associated-with-sensory-motor-axonal-neuropathy-resembling-charcot-marie-tooth-disease-is-characteristic-of-bag3-gene-mutations-even-without-cardiac-involvement
#2
Jean-Baptiste Noury, Thierry Maisonobe, Pascale Richard, Valérie Delague, Edoardo Malfatti, Tanya Stojkovic
INTRODUCTION: BAG3 (Bcl-2 associated athanogene-3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement and contractures and are associated with cardiac and respiratory impairment in the second decade. Axonal neuropathy has been documented, but usually not as a key clinical feature. METHODS: We report a 24-year-old woman with severe rigid spine syndrome and sensory-motor neuropathy resembling Charcot-Marie-Tooth disease (CMT)...
February 22, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28218388/the-new-neuromuscular-disease-related-with-defects-in-the-asc-1-complex-report-of-a-second-case-confirms-ascc1-involvement
#3
Jorge Oliveira, Márcia Martins, Rosário Pinto Leite, Mário Sousa, Rosário Santos
Next-generation sequencing technology aided the identification of the underlying genetic cause in a female newborn with a severe neuromuscular disorder. The patient presented generalized hypotonia, congenital bone fractures, lack of spontaneous movements and poor respiratory effort. She died within the first days of life. Karyotyping and screening for several genes related with neuromuscular diseases all tested negative. A male sibling was subsequently born with the same clinical presentation. Whole-exome sequencing was performed with variant filtering assuming a recessive disease model...
February 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28211977/1q21-3-deletion-involving-gatad2b-an-emerging-recurrent-microdeletion-syndrome
#4
Thipwimol Tim-Aroon, Natini Jinawath, Weerin Thammachote, Praweena Sinpitak, Anchalee Limrungsikul, Chaiyos Khongkhatithum, Duangrurdee Wattanasirichaigoon
GATAD2B gene is involved in chromatin modification and transcription activity. Loss-of-function mutations of GATAD2B have recently been defined to cause a recognizable syndrome with intellectual disability (ID). Human TPM3 gene encoding thin filament protein is associated with myopathies. Both genes are located on chromosome 1q21.3. We herein report an infant with feeding difficulty, developmental delay, hypotonia, and dysmorphic features including small palpebral fissures, telecanthus, sparse hair and eyebrow, cup-shaped ears, and clinodactyly...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28207435/statin-associated-immune-mediated-myopathy-biology-and-clinical-implications
#5
Lisa Christopher-Stine, Pari Basharat
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 disease associated with a genetic predisposition as well as potential risk factors including concomitant diseases and specific statins...
February 14, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28202739/anti-hmgcr-autoantibodies-in-juvenile-idiopathic-inflammatory-myopathies-identify-a-rare-but-clinically-important-subset-of-patients
#6
Sarah L Tansley, Zoe E Betteridge, Stefania Simou, Thomas S Jacques, Clarissa Pilkington, Mark Wood, Kishore Warrier, Lucy R Wedderburn, Neil J McHugh
OBJECTIVE: We aimed to establish the prevalence and clinical associations of anti-HMG-CoA-reductase (anti-HMGCR) in a large UK cohort with juvenile myositis. METHODS: There were 381 patients investigated for anti-HMGCR using ELISA. RESULTS: Anti-HMGCR autoantibodies were detected in 4 patients (1%). These children had no or minimal rash and significant muscle disease. Muscle biopsies were considered distinctive, with widespread variation in fiber size, necrotic fibers, and chronic inflammatory cell infiltrates; all had prolonged elevation of creatine kinase and all ultimately received biologic therapies...
February 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28190982/dermatomyositis-leading-to-necrotizing-vasculitis-a-perfect-response-to-applied-therapy
#7
Mahmood Akbaryan, Farideh Darabi, Zahra Soltani
Dermatomyositis is an idiopathic inflammatory myopathy that cause skin and muscle complications. The ethiology is not understood well yet. Released cytokines including interferon and interleukins are suggested to make inflammatory responses in the skin or muscle. Muscle weakness and skin lesions including heliotrope rash, shawl sign and Gottron's papules are the most common symptoms. A biopsy (muscle or skin) is always the most reliable method for diagnosis. Corticosteroids in association with immunosuppressive agents are used as standard treatment...
December 2016: International Journal of Biomedical Science: IJBS
https://www.readbyqxmd.com/read/28190645/pgm1-deficiency-substrate-use-during-exercise-and-effect-of-treatment-with-galactose
#8
N C Voermans, N Preisler, K L Madsen, M C H Janssen, B Kusters, N Abu Bakar, F Conte, V M L Lamberti, F Nusman, B G van Engelen, M van Scherpenzeel, J Vissing, D J Lefeber
Mutations in PGM1 (phosphoglucomutase 1) cause Glycogen Storage Disease type XIV, which is also a congenital disorder of protein N-glycosylation. It presents throughout life as myopathy with additional systemic symptoms. We report the effect of oral galactose treatment during five months in a patient with biochemically and genetically confirmed PGM1 deficiency. The 12-minute-walking distance increased by 225 m (65%) and transferrin glycosylation was restored to near-normal levels. The exercise assessments showed a severe exercise intolerance due to a block in skeletal muscle glycogenolytic capacity and that galactose treatment tended to normalize skeletal muscle substrate use from fat to carbohydrates during exercise...
January 19, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28185170/mechanisms-of-cardiomyocyte-proliferation-and-differentiation-in-development-and-regeneration
#9
REVIEW
Jessie Wettig Yester, Bernhard Kühn
PURPOSE OF REVIEW: Congenital heart disease is the most common birth defect and acquired heart disease is the leading cause of death in adults. Understanding the mechanisms that drive cardiomyocyte proliferation and differentiation has the potential to advance the understanding and potentially the treatment of different cardiac pathologies, ranging from myopathies and heart failure to myocardial infarction. This review focuses on studies aimed at elucidating signal transduction pathways and molecular mechanisms that promote proliferation, differentiation, and regeneration of differentiated heart muscle cells, cardiomyocytes...
February 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28183315/pyruvate-kinase-m2-and-the-mitochondrial-atpase-inhibitory-factor-1-provide-novel-biomarkers-of-dermatomyositis-a-metabolic-link-to-oncogenesis
#10
Fulvio Santacatterina, María Sánchez-Aragó, Marc Catalán-García, Glòria Garrabou, Cristina Nuñez de Arenas, Josep M Grau, Francesc Cardellach, José M Cuezva
BACKGROUND: Metabolic alterations play a role in the development of inflammatory myopathies (IMs). Herein, we have investigated through a multiplex assay whether proteins of energy metabolism could provide biomarkers of IMs. METHODS: A cohort of thirty-two muscle biopsies and forty plasma samples comprising polymyositis (PM), dermatomyositis (DM) and sporadic inclusion body myositis (sIBM) and control donors was interrogated with monoclonal antibodies against proteins of energy metabolism using reverse phase protein microarrays (RPPA)...
February 10, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28177127/emerging-roles-of-er-stress-and-unfolded-protein-response-pathways-in-skeletal-muscle-health-and-disease
#11
REVIEW
Kyle R Bohnert, Joseph D McMillan, Ashok Kumar
Skeletal muscle is the most abundant tissue in the human body and can adapt its mass as a consequence of physical activity, metabolism, growth factors, and disease conditions. Skeletal muscle contains an extensive network of endoplasmic reticulum (ER), called sarcoplasmic reticulum, which plays an important role in the regulation of proteostasis and calcium homeostasis. In many cell types, environmental and genetic factors that disrupt ER function cause an accumulation of misfolded and unfolded proteins in the ER lumen that ultimately leads to ER stress...
February 8, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28138246/association-of-peripheral-neuropathy-with-sleep-related-breathing-disorders-in-myotonic-dystrophies
#12
Marta Banach, Jakub Antczak, Rafał Rola
BACKGROUND: Myotonic dystrophy (DM) type 1 and type 2 are inherited diseases characterized by myotonia and myopathy. Additional symptoms include, among others, peripheral neuropathy and sleep-related breathing disorders (SRBDs). There is growing evidence for a complex association between DM1 and DM2, which was described in patients with diabetes mellitus and in the general population. In this study, we investigated whether there is an association between peripheral neuropathy and SRBDs also in the population of patients with DM...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28134641/craniofacial-manifestations-in-severe-nemaline-myopathy
#13
Yunfeng Xue, Pilar L Magoulas, John O Wirthlin, Edward P Buchanan
Nemaline myopathy (NM) is a rare congenital muscular disease characterized by the presence of rod (nemaline) bodies visualized on muscle biopsy. The disease is genetically and clinically heterogeneous, and the age of onset can vary from neonate to adult. Patients typically present initially with diffuse muscle weakness and hypotonia. The disease also afflicts facial musculature and can cause anomalous facial growth and development. The authors report a patient of early onset NM with significant craniofacial abnormalities...
January 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28129483/anti-3-hydroxy-3-methylglutaryl-coenzyme-a-reductase-autoantibodies-are-associated-with-drb1-07-01-and-severe-myositis-in-pediatric-myositis-patients
#14
Takayuki Kishi, Lisa G Rider, Katherine Pak, Lilliana Barillas-Arias, Michael Henrickson, Paul L McCarthy, Bracha Shaham, Pamela F Weiss, Iren Horkayne-Szakaly, Ira N Targoff, Frederick Miller, Andrew L Mammen
OBJECTIVE: Autoantibodies recognizing 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) are associated with statin exposure, the HLA allele DRB1*11:01, and necrotizing muscle biopsies in adult myositis patients. The aim of this study was to characterize the features of pediatric anti-HMGCR-positive myositis patients. METHODS: The sera of 440 juvenile myositis patients were screened for anti-HMGCR autoantibodies. Demographic and clinical features, responses to therapy, and HLA alleles were assessed...
January 27, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28129093/immune-mediated-muscle-diseases-of-the-horse
#15
S A Durward-Akhurst, S J Valberg
In horses, immune-mediated muscle disorders can arise from an overzealous immune response to concurrent infections or potentially from an inherent immune response to host muscle antigens. Streptococcus equi ss. equi infection or vaccination can result in infarctive purpura hemorrhagica (IPH) in which vascular deposition of IgA-streptococcal M protein complexes produces ischemia and complete focal infarction of skeletal muscle and internal organs. In Quarter Horse-related breeds with immune-mediated myositis, an apparent abnormal immune response to muscle antigens results in upregulation of major histocompatibility complex class (MHC) I and II on muscle cell membranes, lymphocytic infiltration of lumbar and gluteal myofibers, and subsequent gross muscle atrophy...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28127431/adult-onset-pompe-s-disease-presenting-with-insidious-hypercapnic-respiratory-failure
#16
Cara O'Callaghan, Robert Henderson, Philip Masel, George Tay, Benjamin Tsang
Orthopnoea is commonly attributed to heart failure but can be caused by diaphragm weakness, which, when severe, is often associated with hypercapnic respiratory failure. Bilateral diaphragm weakness is generally due to systemic nerve or muscle disease and usually occurs in the setting of severe generalized muscle weakness, but the diaphragm can be the initial or only muscle involved. Here, we report the case of a 39-year-old female who presented with slowly progressive orthopnoea and daytime somnolence. Pulmonary function studies and polysomnogram confirmed bilateral diaphragm weakness complicated by nocturnal hypoventilation and she was subsequently diagnosed with adult-onset Pompe's disease, a rare metabolic myopathy...
September 2016: Respirology Case Reports
https://www.readbyqxmd.com/read/28124283/a-critical-evaluation-of-liver-pathology-in-humans-with-danon-disease-and-experimental-correlates-in-a-rat-model-of-lamp-2-deficiency
#17
Lu Wang, Jingbo Wang, Weile Cai, Yongquan Shi, Xinmin Zhou, Guanya Guo, Changcun Guo, Xiaofeng Huang, Zheyi Han, Shuai Zhang, Shuoyi Ma, Xia Zhou, Daiming Fan, M Eric Gershwin, Ying Han
Danon disease is a genetic deficiency in lysosome-associated membrane protein 2 (LAMP-2), a highly glycosylated constituent of the lysosomal membrane and characterized by a cardiomyopathy, skeletal muscle myopathy, and cognitive impairment. Patients, however, often manifest hepatic abnormalities, but liver function has not been well evaluated and the syndrome is relatively uncommon. Hence, we have taken advantage of a rat that has been deleted of LAMP-2 to study the relative role of LAMP-2 on liver function...
January 26, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28120463/a-novel-variant-in-the-pygm-gene-causing-late-onset-limb-girdle-myopathy-ptosis-and-camptocormia
#18
Chrystel Chéraud, Roseline Froissart, Béatrice Lannes, Andoni Echaniz-Laguna
INTRODUCTION: McArdle disease is a glycogen storage disease caused by mutations in the PYGM gene encoding myophosphorylase. It manifests classically with childhood-onset exercise-induced pain. METHODS: We report the characteristics of 2 unrelated patients with a new homozygous mutation of the PYGM gene. RESULTS: Two patients, aged 76 and 79 years, presented with severe upper and lower limb atrophy and weakness. Additionally, 1 patient presented with bilateral ptosis, and the other with camptocormia...
January 24, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28112192/stac3-stably-interacts-through-its-c1-domain-with-cav1-1-in-skeletal-muscle-triads
#19
Marta Campiglio, Bernhard E Flucher
The adaptor protein STAC3 is essential for skeletal muscle excitation-contraction (EC) coupling and a mutation in the STAC3 gene has been linked to a severe muscle disease, Native American myopathy (NAM). However the function of STAC3, its interaction partner, and the mode of interaction within the EC-coupling complex remained elusive. Here we demonstrate that STAC3 forms a stable interaction with the voltage-sensor of EC-coupling, CaV1.1, and that this interaction depends on a hitherto unidentified protein-protein binding pocket in the C1 domain of STAC3...
January 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28111795/myopathology-in-times-of-modern-imaging
#20
Heinz 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...
January 23, 2017: Neuropathology and Applied Neurobiology
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