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https://www.readbyqxmd.com/read/29235020/do-gstm1-and-gstt1-polymorphisms-influence-the-risk-of-developing-mitochondrial-diseases-in-a-tunisian-population
#1
Raouia Ghorbel, Ghada Ben Salah, Rania Ghorbel, Afif Ben Mahmoud, Imen Chamkha, Emna Mkaouar-Rebai, Leila Ammar-Keskes, Faiza Fakhfakh
Mitochondria play an essential role to supply the cell with metabolic energy in the form of adenosine triphosphate (ATP) through oxidative phosphorylation (OXPHOS). As a consequence, they are also the primary source of cellular reactive oxygen species (ROS) which can cause oxidative damage of individual respiratory chain complexes. Indeed, affected OXPHOS subunits result in decreases in ATP production and increases in ROS formation which generate oxidative phosphorylation deficiency leading to mitochondrial dysfunctions...
December 12, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/29231968/value-of-magnetic-resonance-imaging-for-evaluating-muscle-inflammation-insights-from-a-new-mouse-model-of-myositis
#2
Gwladys Bourdenet, Benjamin Dubourg, Lionel Nicol, Paul Mulder, Jérémie Martinet, Yves Allenbach, Christian Boitard, Olivier Boyer
Inflammatory myopathies or myositides represent a group of severe skeletal muscle diseases characterized by muscle weakness, elevation of serum creatine kinase levels and muscle inflammatory cell infiltrates. Despite the contribution of a growing number of myositis-specific autoantibodies and the existence of characteristic dermatological features in dermatomyositis, the definitive diagnosis of myositis requires pathological examination of a muscle biopsy [1, 2]. To limit false negatives, this biopsy should be performed in an area of active disease [2]...
December 12, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29230129/paraneoplastic-cardiac-involvement-in-renal-cell-carcinoma-with-dermatomyositis-sine-dermatitis
#3
Htoo Kyaw, Atif Z Shaikh, Cesar Ayala-Rodriguez, Misra Deepika
Background: Dermatomyositis is an idiopathic inflammatory myopathy that has been established as one of the many paraneoplastic phenomena. Cardiac involvement can occur with dermatomyositis but has rarely been reported in the literature because symptoms are usually subclinical. Case Report: A 72-year-old female presented with generalized weakness for 1 month after a recent diagnosis of renal cell carcinoma. Her weakness was attributed to a myopathic process that was identified as dermatomyositis after muscle biopsy...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/29228356/dietary-intervention-rescues-myopathy-associated-with-neurofibromatosis-type-1
#4
Matthew A Summers, Thusitha Rupasinghe, Emily R Vasiljevski, Frances J Evesson, Kathy Mikulec, Lauren Peacock, Kate Gr Quinlan, Sandra T Cooper, Ute Roessner, David A Stevenson, David G Little, Aaron Schindeler
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with complex symptomology. In addition to a predisposition to tumors, children with NF1 can present with reduced muscle mass, global muscle weakness, and impaired motor skills, which can have a significant impact on quality of life. Genetic mouse models have shown a lipid storage disease phenotype may underlie muscle weakness in NF1. Herein we confirm that biopsy specimens from six individuals with NF1 similarly manifest features of a lipid storage myopathy, with marked accumulation of intramyocellular lipid, fibrosis, and mononuclear cell infiltrates...
December 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29228135/reply-dguok-recessive-mutations-in-patients-with-cpeo-mitochondrial-myopathy-parkinsonism-and-mtdna-deletions
#5
Dario Ronchi, Daniela Piga, Stefano Lamberti, Monica Sciacco, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Giacomo Pietro Comi
No abstract text is available yet for this article.
December 8, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29228108/dguok-recessive-mutations-in-patients-with-cpeo-mitochondrial-myopathy-parkinsonism-and-mtdna-deletions
#6
Leonardo Caporali, Luca Bello, Francesca Tagliavini, Chiara La Morgia, Alessandra Maresca, Lidia Di Vito, Rocco Liguori, Maria Lucia Valentino, Diego Cecchin, Elena Pegoraro, Valerio Carelli
No abstract text is available yet for this article.
December 8, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29224958/renal-involvement-in-neuropathy-ataxia-retinitis-pigmentosa-narp-syndrome-a-case-report
#7
Sandrine Lemoine, Marine Panaye, Maud Rabeyrin, Elisabeth Errazuriz-Cerda, Bénédicte Mousson de Camaret, Philippe Petiot, Laurent Juillard, Fitsum Guebre-Egziabher
We report a case of a patient who had the mitochondrial cytopathy complex of neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome diagnosed at age 11 years with a biopsy-proven kidney involvement that progressed to end-stage renal disease at age 21 years. Mutations of mitochondrial DNA (mtDNA) are maternally inherited and lead to mitochondrial cytopathies with predominant neurologic manifestations: psychomotor retardation, epilepsy, ataxia, neuropathy, and myopathy. Given the ubiquitous nature of mitochondria, cellular dysfunction can also appear in tissues with high metabolic turnover; thus, there can be cardiac, digestive, ophthalmologic, and kidney complications...
December 7, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29224337/spermidine-activated-satellite-cells-are-associated-with-hypoacetylation-in-acvr2b-and-smad3-binding-to-myogenic-genes-in-mice
#8
Luchu Zhang, Huiying Gong, Qinwei Sun, Ruqian Zhao, Yimin Jia
Spermidine is an acetyltransferase inhibitor and a specific inducer of autophagy. Recently, spermidine is identified as a potential therapeutic agent for age-related muscle atrophy and inherited myopathies. However, the effect of spermidine on non-pathological skeletal muscle remains unclear. In this study, long-term spermidine administration in mice lowered the mean cross-sectional area of the gastrocnemius muscle, and reduced the expression of myosin heavy chain isoforms in the muscle, which was associated with ubiquitination...
December 10, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/29223996/metabolic-myopathies-a-practical-approach
#9
REVIEW
James B Lilleker, Yann Shern Keh, Federico Roncaroli, Reena Sharma, Mark Roberts
Metabolic myopathies are a diverse group of rare genetic disorders and their associated muscle symptoms may be subtle. Patients may present with indolent myopathic features, exercise intolerance or recurrent rhabdomyolysis. Diagnostic delays are common and clinicians need a high index of suspicion to recognise and differentiate metabolic myopathies from other conditions that present in a similar fashion. Standard laboratory tests may be normal or non-specific, particularly between symptomatic episodes. Targeted enzyme activity measurement and next-generation genetic sequencing are increasingly used...
December 9, 2017: Practical Neurology
https://www.readbyqxmd.com/read/29222707/quantitative-3d-scintigraphy-shows-increased-muscular-uptake-of-pyrophosphate-in-idiopathic-inflammatory-myopathy
#10
Karin Folmer Thøgersen, Jane Angel Simonsen, Svend Hvidsten, Oke Gerke, Søren Jacobsen, Poul Flemming Høilund-Carlsen, Karen Middelbo Buch-Olsen, Louise Pyndt Diederichsen
BACKGROUND: Nuclear imaging is increasingly being used in the diagnostic work-up of idiopathic inflammatory myopathy (IIM). Increased muscular uptake of technetium-99m-pyrophosphate (99mTc-PYP) has hitherto been assessed qualitatively by planar scintigraphy. We set out to perform quantitative tomographic scintigraphy in IIM. RESULTS: Ninety IIM patients and 48 control subjects underwent 99mTc-PYP single-photon emission computed tomography (SPECT)/CT of the upper and lower body...
December 8, 2017: EJNMMI Research
https://www.readbyqxmd.com/read/29221629/224th-enmc-international-workshop-clinico-sero-pathological-classification-of-immune-mediated-necrotizing-myopathies-zandvoort-the-netherlands-14-16-october-2016
#11
Yves Allenbach, Andrew L Mammen, Werner Stenzel, Olivier Benveniste
No abstract text is available yet for this article.
October 23, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29218707/food-effect-on-rosuvastatin-disposition-and-low-density-lipoprotein-cholesterol
#12
Cheynne C McLean, Wendy A Teft, Bridget L Morse, Steven E Gryn, Robert A Hegele, Richard B Kim
Rosuvastatin is commonly prescribed for the treatment of hypercholesterolemia and hepatic transporter-mediated accumulation in the liver enhances its efficacy. Current guidelines indicate no preference for fed or fasted rosuvastatin administration. We investigated the association between food intake and rosuvastatin disposition in healthy subjects and low-density lipoprotein cholesterol (LDL-C) lowering effects among patients taking rosuvastatin. We demonstrate administration with food resulted in a near 40% reduction of rosuvastatin exposure in healthy Asian (n=12) and Caucasian (n=11) subjects...
December 8, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/29217291/pregnancy-outcomes-in-adult-patients-with-dermatomyositis-and-polymyositis
#13
Kathleen D Kolstad, David Fiorentino, Shufeng Li, Eliza F Chakravarty, Lorinda Chung
OBJECTIVE: The idiopathic inflammatory myopathies dermatomyositis (DM) and polymyositis (PM) are autoimmune diseases that can affect females of childbearing potential. We assessed pregnancy outcomes in DM and PM patients compared with the general obstetric population. METHODS: The Nationwide Inpatient Sample (NIS) (1993-2007) was used to identify delivery-associated hospitalizations in women with DM or PM (DM/PM, n = 853). Controls were from the general obstetric population delivery-associated hospitalizations matched to each case by year of delivery...
November 20, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/29215735/vacuolated-pas-positive-lymphocytes-as-an-hallmark-of-pompe-disease-and-other-myopathies-related-to-impaired-autophagy
#14
Angelo Pascarella, Chiara Terracciano, Olimpia Farina, Luca Lombardi, Teresa Esposito, Filomena Napolitano, Giuseppina Franzese, Giovanni Panella, Francesco Tuccillo, Giancarlo la Marca, Sergio Bernardini, Silvia Boffo, Antonio Giordano, Mariarosa Anna Beatrice Melone, Giuseppe Di Iorio, Simone Sampaolo
Autosomal recessive Pompe disease is a lysosomal disorder caused by mutations of the acid-α-glucosidase (GAA) gene. Deficiency of GAA enzyme leads to glycogen accumulation and autophagy impairment in cardiac and skeletal muscles, but also in lymphocytes. Since an effective therapy is available, a rapid, sensitive and specific test is crucial to early identify affected subjects. Number of lymphocytes containing PAS-positive vacuoles was evaluated on blood films from 72 consecutive adult patients with hyperckemia and/or muscle weakness, 13 genetically confirmed late-onset-Pompe-disease (LOPD) and 13 of their offspring...
December 7, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29212896/the-novel-desmin-mutation-p-glu401asp-impairs-filament-formation-disrupts-cell-membrane-integrity-and-causes-severe-arrhythmogenic-left-ventricular-cardiomyopathy-dysplasia
#15
Francisco José Bermúdez-Jiménez, Víctor Carriel, Andreas Brodehl, Miguel Alaminos, Antonio Campos, Ilona Schirmer, Hendrik Milting, Beatriz Álvarez Abril, Miguel Álvarez, Silvia López-Fernández, Diego García-Giustiniani, Lorenzo Monserrat, Luis Tercedor, Juan Jiménez-Jáimez
Background -Desmin (DES) mutations cause severe skeletal and cardiac muscle disease with heterogeneous phenotypes. Recently, DES mutations were described in patients with inherited arrhythmogenic right ventricular cardiomyopathy/dysplasia (iARVC/D), although their cellular and molecular pathomechanisms are not precisely known. Our aim is to describe clinically and functionally the novel DES-p.Glu401Asp mutation as a cause of inherited left ventricular arrhythmogenic cardiomyopathy/dysplasia (iLVAC/D). Methods -We identified the novel DES mutation p...
December 6, 2017: Circulation
https://www.readbyqxmd.com/read/29211919/myofibrillar-myopathy-due-to-dominant-lmna-mutations-a-report-of-two-cases
#16
Priya S Dhawan, Teerin Liewluck, Joseph Knapik, Margherita Milone
No abstract text is available yet for this article.
December 6, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29209666/novel-duplication-mutation-of-the-dysf-gene-in-a-pakistani-family-with-miyoshi-myopathy
#17
Muhammad I Ullah, Arsalan Ahmad, Milena Zarkovic, Syed S Shah, Abdul Nasir, Saqib Mahmood, Wasim Ahmad, Christian A Hubner, Muhammad J Hassan
To identify the underlying gene mutation in a large consanguineous Pakistani family.  Methods: This is an observational descriptive study carried out at the Department of Biochemistry, Shifa International Hospital, Quaid-i-Azam University, and Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, Pakistan from 2013-2016. Genomic DNA of all recruited family members was extracted and the Trusight one sequencing panel was used to assess genes associated with a neuro-muscular phenotype...
December 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/29205400/severe-asymmetric-muscle-weakness-revealing-glycogenin-1-polyglucosan-body-myopathy
#18
Tanya Stojkovic, Anaïs Chanut, Pascal Laforêt, Angeline Madelaine, François Petit, Norma B Romero, Edoardo Malfatti
No abstract text is available yet for this article.
December 5, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29203713/therapeutic-potential-of-heat-shock-protein-induction-for-muscular-dystrophy-and-other-muscle-wasting-conditions
#19
REVIEW
Savant S Thakur, Kristy Swiderski, James G Ryall, Gordon S Lynch
Duchenne muscular dystrophy is the most common and severe of the muscular dystrophies, a group of inherited myopathies caused by different genetic mutations leading to aberrant expression or complete absence of cytoskeletal proteins. Dystrophic muscles are prone to injury, and regenerate poorly after damage. Remorseless cycles of muscle fibre breakdown and incomplete repair lead to progressive and severe muscle wasting, weakness and premature death. Many other conditions are similarly characterized by muscle wasting, including sarcopenia, cancer cachexia, sepsis, denervation, burns, and chronic obstructive pulmonary disease...
January 19, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29200081/pd-1-inhibitor-associated-myopathies-emerging-immune-mediated-myopathies
#20
Teerin Liewluck, Justin C Kao, Michelle L Mauermann
Programmed death-1 (PD-1) inhibitors are increasingly used in cancer immunotherapy. Various immune-related adverse events are reported, including infrequent individual case reports of myositis or rhabdomyolysis. The frequency and diagnostic spectrum of immune-related adverse events affecting skeletal muscle in PD-1 inhibitor-treated patients are unknown. We searched the Mayo Clinic Pharmacy database (2014-2016) to identify patients who developed myopathies during or after PD-1 inhibitor therapy. Among 654 cancer patients received PD-1 inhibitors (pembrolizumab=389; nivolumab=264; both=1), we identified 5 patients (pembrolizumab=5) with biopsy-proven myopathies (2 necrotizing myopathy, 1 early dermatomyositis, and 2 nonspecific myopathy)...
December 1, 2017: Journal of Immunotherapy
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