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Duchenne muscular dystrophy

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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
#1
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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/27906462/histopathological-evaluation-of-skeletal-muscle-with-specific-reference-to-mouse-models-of-muscular-dystrophy
#5
Rebecca L Terry, Dominic J Wells
The muscular dystrophies are a diverse group of degenerative diseases for which many mouse models are available. These models are frequently used to assess potential therapeutic interventions and histological evaluation of multiple muscles is an important part of this assessment. Histological evaluation is especially useful when combined with tests of muscle function. This unit describes a protocol for necropsy, processing, cryosectioning, and histopathological evaluation of murine skeletal muscles, which is applicable to both models of muscular dystrophy and other neuromuscular conditions...
December 1, 2016: Current Protocols in Mouse Biology
https://www.readbyqxmd.com/read/27906113/dystrophin-restoration-therapy-improves-both-the-reduced-excitability-and-the-force-drop-induced-by-lengthening-contractions-in-dystrophic-mdx-skeletal-muscle
#6
Pauline Roy, Fredérique Rau, Julien Ochala, Julien Messéant, Bodvael Fraysse, Jeanne Lainé, Onnik Agbulut, Gillian Butler-Browne, Denis Furling, Arnaud Ferry
BACKGROUND: The greater susceptibility to contraction-induced skeletal muscle injury (fragility) is an important dystrophic feature and tool for testing preclinic dystrophin-based therapies for Duchenne muscular dystrophy. However, how these therapies reduce the muscle fragility is not clear. METHODS: To address this question, we first determined the event(s) of the excitation-contraction cycle which is/are altered following lengthening (eccentric) contractions in the mdx muscle...
July 20, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27906101/characterization-of-a-dmd-egfp-reporter-mouse-as-a-tool-to-investigate-dystrophin-expression
#7
Mina V Petkova, Susanne Morales-Gonzales, Karima Relizani, Esther Gill, Franziska Seifert, Josefine Radke, Werner Stenzel, Luis Garcia, Helge Amthor, Markus Schuelke
BACKGROUND: Dystrophin is a rod-shaped cytoplasmic protein that provides sarcolemmal stability as a structural link between the cytoskeleton and the extracellular matrix via the dystrophin-associated protein complex (DAPC). Mutations in the dystrophin-encoding DMD gene cause X-linked dystrophinopathies with variable phenotypes, the most severe being Duchenne muscular dystrophy (DMD) characterized by progressive muscle wasting and fibrosis. However, dystrophin deficiency does not only impair the function of skeletal and heart muscle but may also affect other organ systems such as the brain, eye, and gastrointestinal tract...
July 5, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27906064/treatment-with-rgdf11-does-not-improve-the-dystrophic-muscle-pathology-of-mdx-mice
#8
Fabrizio Rinaldi, Yu Zhang, Ricardo Mondragon-Gonzalez, Jeffrey Harvey, Rita C R Perlingeiro
BACKGROUND: Duchenne muscular dystrophy (DMD) is an inherited lethal muscle wasting disease characterized by cycles of degeneration and regeneration, with no effective therapy. Growth differentiation factor 11 (GDF11), a member of the TGF-β superfamily and myostatin homologous, has been reported to have the capacity to reverse age-related skeletal muscle loss. These initial findings led us to investigate the ability of GDF11 to promote regeneration in the context of muscular dystrophy and determine whether it could be a candidate to slow down or reverse the disease progression in DMD...
June 14, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27885178/-changes-in-cytosolic-ca-2-dynamics-associated-with-muscular-dystrophy
#9
Jun Tanihata, Shin'ichi Takeda
Duchenne muscular dystrophy(DMD)is X-linked genetic disorder caused by a lack of the membrane-associated protein dystrophin. DMD is characterized by progressive muscle wasting secondary to repeated muscle damage and inadequate repair. The mechanisms underlying the functional impairments in dystrophic muscle have not yet been fully determined. However, several recent studies indicate that elevated intracellular Ca(2+)homeostasis is a cause or facilitator of the development of muscle weakness in muscular dystrophy...
2016: Clinical Calcium
https://www.readbyqxmd.com/read/27881412/renin-angiotensin-aldosterone-system-inhibitors-improve-membrane-stability-and-change-gene-expression-profiles-in-dystrophic-skeletal-muscles
#10
Jessica A Chadwick, Sayak Bhattacharya, Jeovanna Lowe, Noah Weisleder, Jill A Rafael-Fortney
Angiotensin-converting enzyme inhibitors and mineralocorticoid receptor (MR) antagonists are FDA approved drugs that inhibit the renin-angiotensin-aldosterone system (RAAS) and are used to treat heart failure. Combined treatment with the angiotensin-converting enzyme inhibitor lisinopril and the non-specific MR antagonist spironolactone surprisingly improves skeletal muscle, in addition to heart function and pathology in a Duchenne muscular dystrophy mouse model. We recently demonstrated that MR is present in all limb and respiratory muscles and functions as a steroid hormone receptor in differentiated normal human skeletal muscle fibers...
November 23, 2016: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/27872312/exon-skipping-of-fc%C3%AE%C2%B5ri%C3%AE-eliminates-expression-of-the-high-affinity-ige-receptor-in-mast-cells-with-therapeutic-potential-for-allergy
#11
Glenn Cruse, Yuzhi Yin, Tomoki Fukuyama, Avanti Desai, Greer K Arthur, Wolfgang Bäumer, Michael A Beaven, Dean D Metcalfe
Allergic diseases are driven by activation of mast cells and release of mediators in response to IgE-directed antigens. However, there are no drugs currently available that can specifically down-regulate mast cell function in vivo when chronically administered. Here, we describe an innovative approach for targeting mast cells in vitro and in vivo using antisense oligonucleotide-mediated exon skipping of the β-subunit of the high-affinity IgE receptor (FcεRIβ) to eliminate surface high-affinity IgE receptor (FcεRI) expression and function, rendering mast cells unresponsive to IgE-mediated activation...
November 21, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27863875/knowledge-of-carrier-status-and-barriers-to-testing-among-mothers-of-sons-with-duchenne-or-becker-muscular-dystrophy
#12
Lauren Bogue, Holly Peay, Ann Martin, Ann Lucas, Sindhu Ramchandren
Our study objective was to survey female carriers for Duchenne and Becker muscular dystrophy to identify barriers to carrier testing and the impact of carrier risk knowledge on cardiac and reproductive health management. We surveyed women who have or had biological sons with Duchenne or Becker muscular dystrophy and were enrolled in the US DuchenneConnect patient registry, with questions assessing knowledge of carrier status and recurrence risk, knowledge of care standards for carriers, and barriers to testing...
September 16, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27863231/exon-skipping-therapy
#13
Courtney S Young, April D Pyle
Exondys 51 is the first therapy for Duchenne muscular dystrophy (DMD) to have been granted accelerated approval by the FDA. Approval was granted based on using dystrophin expression as a surrogate marker. Exondys 51 targets DMD exon 51 for skipping to restore the reading frame for 13% of Duchenne patients.
November 17, 2016: Cell
https://www.readbyqxmd.com/read/27859917/current-evidence-for-the-use-of-sugammadex-in-children
#14
REVIEW
Joseph D Tobias
Sugammadex is a novel pharmacologic agent, which reverses neuromuscular blockade with a mechanism that differs from the commonly used, acetylcholinesterase inhibitors. Although sugammadex has not received approval from the United States Food & Drug administration in children, its use has already been reported to reverse neuromuscular blockade in several clinical scenarios in the pediatric population including the 'cannot intubate-cannot ventilate' scenario. To date, there remains limited data from prospective trials in the pediatric-aged patient...
November 17, 2016: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/27859827/elevated-phosphodiester-and-t2-levels-can-be-measured-in-the-absence-of-fat-infiltration-in-duchenne-muscular-dystrophy-patients
#15
M T Hooijmans, E H Niks, J Burakiewicz, J J G M Verschuuren, A G Webb, H E Kan
Quantitative MRI and MRS are increasingly important as non-invasive outcome measures in therapy development for Duchenne muscular dystrophy (DMD). Many studies have focussed on individual measures such as fat fraction and metabolite levels in relation to age and functionality, but much less attention has been given to how these indices relate to each other. Here, we assessed spatially resolved metabolic changes in leg muscles of DMD patients, and classified muscles according to the degree of fat replacement compared with healthy controls...
November 17, 2016: NMR in Biomedicine
https://www.readbyqxmd.com/read/27859236/postnatal-hyperplasic-effects-of-actriib-blockade-in-a-severely-dystrophic-muscle
#16
C Nielsen, R M Potter, C Borowy, K Jacinto, R Kumar, C G Carlson
The efficacy of two ActRIIB ligand trapping agents (RAP-031, RAP-435) in treating muscular dystrophy was examined by determining their morphological effects on the severely dystrophic triangularis sterni (TS) muscle of the mdx mouse, a model for Duchenne muscular dystrophy. These agents trap all endogenous ligands to the ActRIIB receptor and thereby block myostatin signaling in a highly selective manner. Short (1 month) and long term (3 months) in vivo treatment of 1 month old mdx mice increased myonuclei and fiber cross section (FCS) density but did not alter individual fiber size...
November 18, 2016: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/27857122/eteplirsen-therapy-for-duchenne-muscular-dystrophy-skipping-to-the-front-of-the-line
#17
James J Dowling
No abstract text is available yet for this article.
November 18, 2016: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/27856129/-the-certified-duchenne-care-center-program
#18
Kathi Kinnett, James J Dowling, Jerry R Mendell
Variations in the implementation of the Center for Disease Control care guidelines have resulted in discrepancies in Duchenne care across the United States. These discrepancies have led to patients with matched baseline characteristics having markedly different clinical outcomes, confounded interpretation of clinical trial results and delayed drug development for Duchenne. In order to identify gaps and determine the components necessary for comprehensive Duchenne care, Parent Project Muscular Dystrophy developed and launched the Transforming Duchenne Care Initiative...
September 19, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27854224/can-human-pluripotent-stem-cell-derived-cardiomyocytes-advance-understanding-of-muscular-dystrophies
#19
Spandan Kalra, Federica Montanaro, Chris Denning
Muscular dystrophies (MDs) are clinically and molecularly a highly heterogeneous group of single-gene disorders that primarily affect striated muscles. Cardiac disease is present in several MDs where it is an important contributor to morbidity and mortality. Careful monitoring of cardiac issues is necessary but current management of cardiac involvement does not effectively protect from disease progression and cardiac failure. There is a critical need to gain new knowledge on the diverse molecular underpinnings of cardiac disease in MDs in order to guide cardiac treatment development and assist in reaching a clearer consensus on cardiac disease management in the clinic...
August 30, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27854222/enhancement-of-satellite-cell-transplantation-efficiency-by-leukemia-inhibitory-factor
#20
N Ito, N Shimizu, H Tanaka, S Takeda
BACKGROUND AND OBJECTIVES: Cell transplantation is a promising therapy for several muscle diseases, including Duchenne muscular dystrophy. Satellite cells are stem cells in skeletal muscle that provide an important cell source for transplantation therapy. However, culture of satellite cells in vitro causes them to lose their undifferentiated state, associated with reduced transplantation efficiency. It is therefore necessary to develop optimal culture conditions for maintaining the undifferentiated state of satellite cells...
May 27, 2016: Journal of Neuromuscular Diseases
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