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dystrophy duchenne

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https://www.readbyqxmd.com/read/27932677/suite-of-clinically-relevant-functional-assays-to-address-therapeutic-efficacy-and-disease-mechanism-in-the-dystrophic-mdx-mouse
#1
Yafeng Song, Shira Tziporah Rosenblum, Leon Morales, Mihail Petrov, Christopher Greer, Samantha Globerman, Hansell H Stedman
Duchenne muscular dystrophy (DMD) is a progressive primary myodegenerative disease caused by a genetic deficiency of the 427 KD cytoskeletal protein dystrophin. Despite its single-gene etiology, DMD's complex pathogenesis remains poorly understood, complicating the extrapolation from results of preclinical studies in genetic homologues to the design of informative clinical trials. Here we describe novel phenotypic assays which when applied to the mdx mouse resemble recently used primary endpoints for DMD clinical trials...
December 8, 2016: Journal of Applied Physiology
https://www.readbyqxmd.com/read/27931703/guidelines-for-the-perianesthesia-care-of-the-duchenne-muscular-dystrophy-becker-muscular-dystrophy-patient
#2
Barbara A Alliod, Rebecca A Ash
More patients suffering with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are presenting to perianesthesia settings for emergent and nonemergent treatment and care. A group of collaborative health care providers at Rush University Medical Center in Chicago developed a multidisciplinary DMD/BMD Task Force to study this disorder and create a set of guidelines to aid those engaging in the planning, execution of care, and recovery of this unique population in the perianesthesia setting...
December 2016: Journal of Perianesthesia Nursing: Official Journal of the American Society of PeriAnesthesia Nurses
https://www.readbyqxmd.com/read/27930565/a-case-report-with-the-peculiar-concomitance-of-2-different-genetic-syndromes
#3
Alberto Lerario, Irene Colombo, Donatella Milani, Lorenzo Peverelli, Luisa Villa, Roberto Del Bo, Monica Sciacco, Giacomo Pietro Comi, Susanna Esposito, Maurizio Moggio
RATIONALE: Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far. PATIENT CONCERNS: An 8-year-old boy with DS had a history of incidental finding of increased serum creatine kinase levels up to 1775 U/L (normal values 38-174 U/L). He presented no delay in motor development; at the neurological examination, no muscle weakness or fatigability was detected in 2 different evaluations performed over a 6-month period...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27929755/fda-approves-eteplirsen-for-duchenne-muscular-dystrophy-the-next-chapter-in-the-eteplirsen-saga
#4
Annemieke Aartsma-Rus, Arthur M Krieg
No abstract text is available yet for this article.
December 8, 2016: Nucleic Acid Therapeutics
https://www.readbyqxmd.com/read/27928452/evaluation-of-the-unit-rod-surgical-instrumentation-in-duchenne-scoliosis-a-retrospective-study
#5
Nedelcu T, Georgescu I
The article represents a retrospective clinical and radiological study. Objectives. Evaluating the safety and efficiency of the surgical treatment by using the Unit Rod for scoliosis in adolescents and children presenting Duchenne's muscular dystrophy. Summary. Surgical management of myopathic scoliosis still causes controversies regarding the timing of surgery (patient's age), the pelvic inclusion in the arthrodesis or the advantages of surgery over the conservatory treatment. The patients are very fragile and a long surgery with massive blood loss could lead to serious complications...
October 2016: Journal of Medicine and Life
https://www.readbyqxmd.com/read/27927941/a-population-based-epidemiologic-study-of-adult-neuromuscular-disease-in-the-republic-of-ireland
#6
Stela Lefter, Orla Hardiman, Aisling M Ryan
OBJECTIVE: To estimate the prevalence rates (PRs) of acquired and inherited neuromuscular diseases (NMD) in the adult Irish population, reflecting the burden of these conditions in a single country. METHODS: This population-based study was performed in the Republic of Ireland (RoI), with a PR estimated for December 2013. Multiple case ascertainment sources were utilized. Demographic and clinical information and relevant diagnostic results were registered. RESULTS: A total of 2,641 adults were identified, giving a PR of 62...
December 7, 2016: Neurology
https://www.readbyqxmd.com/read/27927595/decreased-cerebral-perfusion-in-duchenne-muscular-dystrophy-patients
#7
Nathalie Doorenweerd, Eve M Dumas, Eidrees Ghariq, Sophie Schmid, Chiara S M Straathof, Arno A W Roest, Beatrijs H Wokke, Erik W van Zwet, Andrew G Webb, Jos G M Hendriksen, Mark A van Buchem, Jan J G M Verschuuren, Iris Asllani, Erik H Niks, Matthias J P van Osch, Hermien E Kan
Duchenne muscular dystrophy is caused by dystrophin gene mutations which lead to the absence of the protein dystrophin. A significant proportion of patients suffer from learning and behavioural disabilities, in addition to muscle weakness. We have previously shown that these patients have a smaller total brain and grey matter volume, and altered white matter microstructure compared to healthy controls. Patients with more distal gene mutations, predicted to affect dystrophin isoforms Dp140 and Dp427, showed greater grey matter reduction...
October 17, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27926769/myocardial-fibrosis-progression-in-duchenne-and-becker-muscular-dystrophy-a-randomized-clinical-trial
#8
Marly Conceição Silva, Tiago Augusto Magalhães, Zilda Maria Alves Meira, Carlos Henrique Reis Esselin Rassi, Amanda Cristina de Souza Andrade, Paulo Sampaio Gutierrez, Clerio Francisco Azevedo, Juliana Gurgel-Giannetti, Mariz Vainzof, Mayana Zatz, Roberto Kalil-Filho, Carlos Eduardo Rochitte
Importance: In Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), interventions reducing the progression of myocardial disease could affect survival. Objective: To assess the effect of early angiotensin-converting enzyme (ACE) inhibitor therapy in patients with normal left ventricular function on the progression of myocardial fibrosis (MF) identified on cardiovascular magnetic resonance (CMR). Design, Setting, and Participants: A randomized clinical trial conducted in 2 centers included 76 male patients with DMD or BMD undergoing 2 CMR studies with a 2-year interval for ventricular function and MF assessment...
December 7, 2016: JAMA Cardiology
https://www.readbyqxmd.com/read/27924830/impaired-regenerative-capacity-and-lower-revertant-fibre-expansion-in-dystrophin-deficient-mdx-muscles-on-dba-2-background
#9
Merryl Rodrigues, Yusuke Echigoya, Rika Maruyama, Kenji Rowel Q Lim, So-Ichiro Fukada, Toshifumi Yokota
Duchenne muscular dystrophy, one of the most common lethal genetic disorders, is caused by mutations in the DMD gene and a lack of dystrophin protein. In most DMD patients and animal models, sporadic dystrophin-positive muscle fibres, called revertant fibres (RFs), are observed in otherwise dystrophin-negative backgrounds. RFs are thought to arise from skeletal muscle precursor cells and clonally expand with age due to the frequent regeneration of necrotic fibres. Here we examined the effects of genetic background on muscle regeneration and RF expansion by comparing dystrophin-deficient mdx mice on the C57BL/6 background (mdx-B6) with those on the DBA/2 background (mdx-DBA), which have a more severe phenotype...
December 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27923984/short-term-effect-of-volume-recruitment-derecruitment-manoeuvre-on-chest-wall-motion-in-duchenne-muscular-dystrophy
#10
Henri Meric, Line Falaize, Didier Pradon, Matthieu Lacombe, Michel Petitjean, David Orlikowski, Hélène Prigent, Frédéric Lofaso
Because progressive respiratory muscle weakness leads to decreased chest-wall motion with eventual ribcage stiffening, the purpose was to compare vital capacity (VC) and contributions of chest-wall compartments before and after volume recruitment-derecruitment manoeuvres (VRDM) in Duchenne muscular dystrophy (DMD). We studied nine patients with DMD and VC lower than 30% of predicted. VRDM was performed using 15 insufflations-exsufflations of +30 to -30 cmH2O. VC and three-dimensional chest-wall motion were measured, as well as oxygen saturation, transcutaneous partial pressure of carbon dioxide and the rapid shallow breathing index (respiratory rate/tidal volume) before (baseline) and immediately and 1 hour after VRDM...
December 6, 2016: Chronic Respiratory Disease
https://www.readbyqxmd.com/read/27923261/value-of-cardiac-t1-mapping-and-ecv-quantification-in-duchenne-muscular-dystrophy-dmd-case%C3%A2-report-typical-imaging-findings-and-review%C3%A2-of-the-literature
#11
Fritz Christian Roller, Sebastian Harth, Gabriele Anja Krombach
No abstract text is available yet for this article.
December 6, 2016: RöFo: Fortschritte Auf Dem Gebiete der Röntgenstrahlen und der Nuklearmedizin
https://www.readbyqxmd.com/read/27922502/the-limb-girdle-muscular-dystrophies-and-the-dystrophinopathies
#12
Stanley Jones P Iyadurai, John T Kissel
PURPOSE OF REVIEW: The classic approach to identifying and accurately diagnosing limb-girdle muscular dystrophies (LGMDs) relied heavily on phenotypic characterization and ancillary studies including muscle biopsy. Because of rapid advances in genetic sequencing methodologies, several additional LGMDs have been molecularly characterized, and the diagnostic approach to these disorders has been simplified. This article summarizes the epidemiology, clinical features, and genetic defects underlying the LGMDs...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27921261/attempting-to-compensate-for-reduced-neuronal-nitric-oxide-synthase-protein-with-nitrate-supplementation-cannot-overcome-metabolic-dysfunction-but-rather-has-detrimental-effects-in-dystrophin-deficient-mdx-muscle
#13
Cara A Timpani, Adam J Trewin, Vanesa Stojanovska, Ainsley Robinson, Craig A Goodman, Kulmira Nurgali, Andrew C Betik, Nigel Stepto, Alan Hayes, Glenn K McConell, Emma Rybalka
Duchenne muscular dystrophy arises from the loss of dystrophin and is characterized by calcium dysregulation, muscular atrophy, and metabolic dysfunction. The secondary reduction of neuronal nitric oxide synthase (nNOS) from the sarcolemma reduces NO production and bioavailability. As NO modulates glucose uptake, metabolism, and mitochondrial bioenergetics, we investigated whether an 8-week nitrate supplementation regimen could overcome metabolic dysfunction in the mdx mouse. Dystrophin-positive control (C57BL/10) and dystrophin-deficient mdx mice were supplemented with sodium nitrate (85 mg/l) in drinking water...
December 5, 2016: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/27916994/eteplirsen-approved-for-duchenne-muscular-dystrophy-the-fda-faces-a-difficult-choice
#14
EDITORIAL
Cy A Stein
No abstract text is available yet for this article.
November 2016: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/27916992/gene-editing-for-duchenne-muscular-dystrophy-using-the-crispr-cas9-technology-the-importance-of-fine-tuning-the-approach
#15
Jacques P Tremblay, Jean-Paul Iyombe-Engembe, Benjamin Duchêne, Dominique L Ouellet
No abstract text is available yet for this article.
November 2016: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/27913649/identification-and-function-of-fibrocytes-in-skeletal-muscle-injury-repair-and-muscular-dystrophy
#16
Xingyu Wang, Wanming Zhao, Richard M Ransohoff, Lan Zhou
We identified and characterized the function of CD45(+)/collagen I(+) fibrocytes in acutely injured skeletal muscle of wild-type (WT) and Ccr2(-/-) mice, and in quadriceps and diaphragm muscles of mdx(5cv) mice, a mouse model for Duchenne muscular dystrophy. Fibrocytes were not detected in peripheral blood of WT mice after acute muscle injury or mdx(5cv) mice. Fibrocytes were detected in acutely injured muscles and in mdx(5cv) quadriceps and diaphragm muscles. These cells expressed F4/80 and CCR2, and they were mostly Ly6C(lo) They expressed a low level of collagens but a high level of profibrotic growth factors as compared with i...
December 15, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/27911335/european-cross-sectional-survey-of%C3%A2-current-care-practices-for-duchenne-muscular-dystrophy-reveals-regional-and%C3%A2-age-dependent-differences
#17
Julia Vry, Kathrin Gramsch, Sunil Rodger, Rachel Thompson, Birgit F Steffensen, Jes Rahbek, Sam Doerken, Adrian Tassoni, María de Los Angeles Beytía, Velina Guergueltcheva, Teodora Chamova, Ivailo Tournev, Anna Kostera-Pruszczyk, Anna Kaminska, Anna Lusakowska, Lenka Mrazova, Lenka Pavlovska, Jana Strenkova, Petr Vondráček, Marta Garami, Veronika Karcagi, Ágnes Herczegfalvi, Katherine Bushby, Hanns Lochmüller, Janbernd Kirschner
BACKGROUND: Publication of comprehensive clinical care guidelines for Duchenne muscular dystrophy (DMD) in 2010 was a milestone for DMD patient management. Our CARE-NMD survey investigates the neuromuscular, medical, and psychosocial care of DMD patients in Europe, and compares it to the guidelines. METHODS: A cross-sectional survey of 1677 patients contacted via the TREAT-NMD patient registries was conducted using self-report questionnaires in seven European countries...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27908983/intra-arterial-transplantation-of-hla-matched-donor-mesoangioblasts-in-duchenne-muscular%C3%A2-dystrophy
#18
Giulio Cossu, Stefano C Previtali, Sara Napolitano, Maria Pia Cicalese, Francesco Saverio Tedesco, Francesca Nicastro, Maddalena Noviello, Urmas Roostalu, Maria Grazia Natali Sora, Marina Scarlato, Maurizio De Pellegrin, Claudia Godi, Serena Giuliani, Francesca Ciotti, Rossana Tonlorenzi, Isabella Lorenzetti, Cristina Rivellini, Sara Benedetti, Roberto Gatti, Sarah Marktel, Benedetta Mazzi, Andrea Tettamanti, Martina Ragazzi, Maria Adele Imro, Giuseppina Marano, Alessandro Ambrosi, Rossana Fiori, Maria Pia Sormani, Chiara Bonini, Massimo Venturini, Letterio S Politi, Yvan Torrente, Fabio Ciceri
No abstract text is available yet for this article.
December 1, 2016: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/27908661/uniform-low-level-dystrophin-expression-in-the-heart-partially-preserved-cardiac-function-in-an-aged-mouse-model-of-duchenne-cardiomyopathy
#19
Nalinda B Wasala, Yongping Yue, Jenna Vance, Dongsheng Duan
Dystrophin deficiency results in Duchenne cardiomyopathy, a primary cause of death in Duchenne muscular dystrophy (DMD). Gene therapy has shown great promise in ameliorating the cardiac phenotype in mouse models of DMD. However, it is not completely clear how much dystrophin is required to treat dystrophic heart disease. We and others have shown that mosaic dystrophin expression at the wild-type level, depending on the percentage of dystrophin positive cardiomyocytes, can either delay the onset of or fully prevent cardiomyopathy in dystrophin-null mdx mice...
November 28, 2016: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/27908613/sparc-interacts-with-actin-in-skeletal-muscle-in%C3%A2-vitro-and-in%C3%A2-vivo
#20
Louise H Jørgensen, Pia Lørup Jepsen, Anders Boysen, Line B Dalgaard, Lars G Hvid, Niels Ørtenblad, Dea Ravn, Jeeva Sellathurai, Jakob Møller-Jensen, Hanns Lochmüller, Henrik D Schrøder
The cytoskeleton is an integral part of skeletal muscle structure, and reorganization of the cytoskeleton occurs during various modes of remodeling. We previously found that the extracellular matrix protein secreted protein acidic and rich in cysteine (SPARC) is up-regulated and expressed intracellularly in developing muscle, during regeneration and in myopathies, which together suggests that SPARC might serve a specific role within muscle cells. Using co-immunoprecipitation combined with mass spectrometry and verified by staining for direct protein-protein interaction, we find that SPARC binds to actin...
November 28, 2016: American Journal of Pathology
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