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https://www.readbyqxmd.com/read/28813989/quantification-of-information-transfer-rate-of-the-human-hand-during-a-mouse-clicking-task-with-healthy-adults-and-one-adult-with-duchenne-muscular-dystrophy
#1
Kostas Nizamis, Wouter Schutte, Jasper Goseling, Bart F J M Koopman
Duchenne muscular Dystrophy (DMD) Is a progressive muscle degenerative disease. Active hand assistive devices, can improve the quality of life of people with DMD. Such devices show a rejection rate due to complexity. Our hypothesis is, that a simple orthosis might prove more functional and realistic in assisting people with DMD. To investigate, we developed a portable setup that provides various visual stimuli and records the response of the subjects' fingers through a mouse clicking task. Six LEDs served as visual stimuli...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28813090/brazilian-consensus-on-duchenne-muscular-dystrophy-part-1-diagnosis-steroid-therapy-and-perspectives
#2
Alexandra P Q C Araujo, Alzira A S de Carvalho, Eduardo B U Cavalcanti, Jonas Alex M Saute, Elmano Carvalho, Marcondes C França, Alberto R M Martinez, Monica de M M Navarro, Anamarli Nucci, Maria Bernadete D de Resende, Marcus Vinicius M Gonçalves, Juliana Gurgel-Giannetti, Rosana H Scola, Cláudia F da R Sobreira, Umbertina C Reed, Edmar Zanoteli
Significant advances in the understanding and management of Duchenne muscular dystrophy (DMD) took place since international guidelines were published in 2010. Our objective was to provide an evidence-based national consensus statement for multidisciplinary care of DMD in Brazil. A combination of the Delphi technique with a systematic review of studies from 2010 to 2016 was employed to classify evidence levels and grade of recommendations. Our recommendations were divided in two parts. We present Part 1 here, where we describe the guideline methodology and overall disease concepts, and also provide recommendations on diagnosis, steroid therapy and new drug treatment perspectives for DMD...
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28813086/translation-and-validation-of-the-life-satisfaction-index-for-adolescents-scale-with-neuromuscular-disorders-lsi-a-brazil
#3
Valdecir Antonio Simon, Edmar Zanoteli, Margarete Andreozzi Vaz Pereira Simon, Maria Bernadete Dutra de Resende, Umbertina Conti Reed
Objective: To validate the Life Satisfaction Index for Adolescents (LSI-A) scale, parent version and patient version, for Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA) and limb-girdle muscular dystrophy (LGMD). Methods: The parent version of the instrument was divided into Groups A, B, C and D; and the patient version, divided into B, C and D. For the statistical calculation, the following tests were used: Cronbach's α, ICC, Pearson and the ROC Curve...
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28813077/duchenne-muscular-dystrophy-classical-and-new-therapeutic-purposes-and-future-perspectives
#4
EDITORIAL
Paulo Victor Sgobbi de Souza, Fernando George Monteiro Naylor, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
No abstract text is available yet for this article.
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28808339/direct-reprogramming-of-fibroblasts-into-skeletal-muscle-progenitor-cells-by-transcription-factors-enriched-in-undifferentiated-subpopulation-of-satellite-cells
#5
Naoki Ito, Isao Kii, Noriaki Shimizu, Hirotoshi Tanaka, Takeda Shin'ichi
Satellite cells comprise a functionally heterogeneous population of stem cells in skeletal muscle. Separation of an undifferentiated subpopulation and elucidation of its molecular background are necessary to identify the reprogramming factors to induce skeletal muscle progenitor cells. In this study, we found that intracellular esterase activity distinguishes a subpopulation of cultured satellite cells with high stemness using esterase-sensitive cell staining reagent, calcein-AM. Gene expression analysis of this subpopulation revealed that defined combinations of transcription factors (Pax3, Mef2b, and Pitx1 or Pax7, Mef2b, and Pitx1 in embryonic fibroblasts, and Pax7, Mef2b and MyoD in adult fibroblasts) reprogrammed fibroblasts into skeletal muscle progenitor cells...
August 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28808269/delivery-of-large-transgene-cassettes-by-foamy-virus-vector
#6
Nathan Paul Sweeney, Jinhong Meng, Hayley Patterson, Jennifer E Morgan, Myra McClure
Viral vectors are effective tools in gene therapy, but their limited packaging capacity can be restrictive. Larger clinically-relevant vectors are needed. Foamy viruses have the largest genomes among mammalian retroviruses and their vectors have shown potential for gene therapy in preclinical studies. However, the effect of vector genome size on titre has not been determined. We inserted increasing lengths of the dystrophin open reading frame in a foamy virus vector and quantified packaged vector RNA and integrated DNA...
August 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28807723/identifying-consistent-disease-subnetworks-using-dnet
#7
Jiajie Peng, Junya Lu, Xuequn Shang, Jin Chen
It is critical to identify disease-specific subnetworks from the vastly available genome-wide gene expression data for elucidating how genes perform high-level biological functions together. Various algorithms have been developed for disease gene identification. However, the topological structure of the disease networks (or even the fraction of the networks) has been left largely unexplored. In this article, we present DNet, a method for the identification of significant disease subnetworks by integrating both the network structure and gene expression information...
August 11, 2017: Methods: a Companion to Methods in Enzymology
https://www.readbyqxmd.com/read/28807665/a-comparative-study-of-care-practices-for-young-boys-with-duchenne-muscular-dystrophy-between-japan-and-european-countries-implications-of-early-diagnosis
#8
Fumi Takeuchi, Hirofumi Komaki, Zentaro Yamagata, Kazushi Maruo, Sunil Rodger, Janbernd Kirschner, Takeo Kubota, En Kimura, Shin'ichi Takeda, Kathrin Gramsch, Julia Vry, Kate Bushby, Hanns Lochmüller, Keiji Wada, Harumasa Nakamura
Early diagnosis of Duchenne muscular dystrophy (DMD) is widely advocated to initiate proactive interventions and genetic counselling. Genetic testing now allows the diagnosis of DMD even prior to the onset of symptoms. However, little is known about care practices and their impact on young DMD boys and families after receiving an early diagnosis. We analysed 64 young boys (Japan, 19; the United Kingdom, 10; Germany, 18; Hungary, 6; Poland, 5; and the Czech Republic, 6) aged <5 years and diagnosed at ≤2 years old among the participants of the cross-sectional study about care practice in DMD...
July 6, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28806929/myelination-is-delayed-during-postnatal-brain-development-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy
#9
Azeez Aranmolate, Nathaniel Tse, Holly Colognato
BACKGROUND: In Duchenne muscular dystrophy (DMD), the loss of the dystrophin component of the dystrophin-glycoprotein complex (DGC) compromises plasma membrane integrity in skeletal muscle, resulting in extensive muscle degeneration. In addition, many DMD patients exhibit brain deficits in which the cellular etiology remains poorly understood. We recently found that dystroglycan, a receptor component of the DGC that binds intracellularly to dystrophin, regulates the development of oligodendrocytes, the myelinating glial cells of the brain...
August 14, 2017: BMC Neuroscience
https://www.readbyqxmd.com/read/28806325/parents-reactions-to-the-diagnosis-of-duchenne-muscular-dystrophy-associations-between-resolution-family-functioning-and-child-behavior-problems
#10
Roberto Baiocco, Paola Castelli Gattinara, Giorgia Cioccetti, Salvatore Ioverno
BACKGROUND: Duchenne muscular dystrophy (DMD) is the most frequent inherited form of muscular dystrophy during childhood. DMD is a severe and progressive disease. Children initially have no symptoms, but the diagnosis is often delayed until the child is about 5 years old. PURPOSE: Although few studies have addressed parent reactions to DMD, parental reactions to other serious childhood conditions have been documented. This study aims to understand the resolution styles that parents use in the context of their children with DMD...
August 12, 2017: Journal of Nursing Research: JNR
https://www.readbyqxmd.com/read/28805065/neurohormonal-modulation-for-treatment-of-cardiac-involvement-in-dystrophinopathies-and-mitochondrial-disease
#11
Alberto Aimo, Alberto Giannoni, Vincenzo Castiglione, Michelangelo Mancuso, Gabriele Siciliano, Massimo F Piepoli, Claudio Passino, Michele Emdin
Mutations in either the nuclear or the mitochondrial genome can lead to structural and functional changes within the skeletal muscles. These genetic skeletal myopathies are rare, although not infrequent when their cumulative incidence is considered. Dystrophinopathies (Duchenne and Becker muscular dystrophies) and mitochondrial disease are some of the most frequent clinical entities, and those developing heart failure more frequently. Neurohormonal antagonism represents the cornerstone of heart failure management, even though its role in the prevention and treatment of heart failure in patients with dystrophinopathies or mitochondrial disorders remains undefined...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28803420/psychosocial-needs-and-facilitators-of-mothers-caring-for-children-with-duchenne-becker-muscular-dystrophy
#12
Holly L Peay, Bettina Meiser, Kathleen Kinnett, Aad Tibben
Care guidelines for Duchenne/Becker muscular dystrophy (DBMD) include recommendations for assessment of caregivers of patients with DBMD followed by proactive psychosocial interventions. To inform clinical assessment, this study described appraisals of psychosocial needs and caregiving facilitators of mothers of individuals with DBMD. Two hundred and five mothers completed an online survey. More than 50% endorsed unmet needs for managing uncertainty about the future and managing DBMD fears. Higher levels of unmet need were associated with less disease progression/earlier stage of DBMD (rho = -0...
August 12, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28803268/proteomic-profiling-of-the-dystrophin-complex-and-membrane-fraction-from-dystrophic-mdx-muscle-reveals-decreases-in-the-cytolinker-desmoglein-and-increases-in-the-extracellular-matrix-stabilizers-biglycan-and-fibronectin
#13
Sandra Murphy, Heinrich Brinkmeier, Mirjam Krautwald, Michael Henry, Paula Meleady, Kay Ohlendieck
The almost complete loss of the membrane cytoskeletal protein dystrophin and concomitant drastic reduction in dystrophin-associated glycoproteins are the underlying mechanisms of the highly progressive neuromuscular disorder Duchenne muscular dystrophy. In order to identify new potential binding partners of dystrophin or proteins in close proximity to the sarcolemmal dystrophin complex, proteomic profiling of the isolated dystrophin-glycoprotein complex was carried out. Subcellular membrane fractionation and detergent solubilisation, in combination with ion exchange, lectin chromatography and density gradient ultracentrifugation, was performed to isolate a dystrophin complex-enriched fraction...
August 12, 2017: Journal of Muscle Research and Cell Motility
https://www.readbyqxmd.com/read/28802771/dmd-and-west-syndrome
#14
Ruxandra Cardas, Catrinel Iliescu, Nina Butoianu, Andreea Seferian, Svetlana Gataullina, Elena Gargaun, Juliette Nectoux, Thierry Bienvenu, Dana Craiu, Teresa Gidaro, Laurent Servais
Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in childhood, with a worldwide incidence of one in 5000 live male births. It is due to mutations in the dystrophin gene leading to absence of full-length dystrophin protein. Central nervous system involvement is well-known in Duchenne Muscular Dystrophy. The multiple dystrophin isoforms expressed in brain have important roles in cerebral development and functioning. The association of Duchenne Muscular Dystrophy with seizures has been reported, and there is a higher prevalence of epilepsy in Duchenne Muscular Dystrophy patients (between 6...
July 19, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28800336/development-of-a-new-self-reporting-instrument-measuring-benefits-and-side-effects-of-corticosteroids-in-duchenne-muscular-dystrophy-report-from-a-pilot-study
#15
Ruben G F Hendriksen, Judith M Lionarons, Jos G M Hendriksen, Johan S H Vles, Laura C McAdam, W Douglas Biggar
BACKGROUND: There is no cure for Duchenne Muscular Dystrophy (DMD); treatment is symptomatic and corticosteroids slow the progression. Side effects of corticosteroids - especially the physical effects - have been described, however patients' and caregivers perception on chronic corticosteroid treatment and their side effects is less well known, in particular with regards to cognition, behaviour, and emotional functioning. OBJECTIVE: The primary aim of this pilot study was to (i) construct a self-report questionnaire to assess the perceived benefits and side effects of corticosteroids for patients with DMD and their parents...
August 11, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28798156/phosphodiesterase-4-inhibitor-and-phosphodiesterase-5-inhibitor-combination-therapy-has-antifibrotic-and-anti-inflammatory-effects-in-mdx-mice-with-duchenne-muscular-dystrophy
#16
Yasunori Nio, Masayuki Tanaka, Yoshihiko Hirozane, Yo Muraki, Mitsugi Okawara, Masatoshi Hazama, Takanori Matsuo
Duchenne muscular dystrophy (DMD) is the most common inherited muscular dystrophy. Patients experience DMD in their 20s from cardiac or respiratory failure related to progressive muscle wasting. Currently, the only treatments for the symptoms of DMD are available. Muscle fibrosis, a DMD feature, leads to reduced muscle function and muscle mass, and hampers pharmaceutical therapeutic efficacy. Although antifibrotic agents may be useful, none is currently approved. Phosphodiesterase (PDE)-4 inhibitors have exhibited antifibrotic effects in human and animal models...
August 10, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28796573/development-of-exon-skipping-therapies-for-duchenne-muscular-dystrophy-a-critical-review-and-a-perspective-on-the-outstanding-issues
#17
Annemieke Aartsma-Rus, Volker Straub, Robert Hemmings, Manuel Haas, Gabriele Schlosser-Weber, Violeta Stoyanova-Beninska, Eugenio Mercuri, Francesco Muntoni, Bruno Sepodes, Elizabeth Vroom, Pavel Balabanov
Duchenne muscular dystrophy (DMD) is a rare, severe, progressive muscle-wasting disease leading to disability and premature death. Patients lack the muscle membrane-stabilizing protein dystrophin. Antisense oligonucleotide (AON)-mediated exon skipping is a therapeutic approach that aims to induce production of partially functional dystrophins. Recently, an AON targeting exon 51 became the first of its class to be approved by the United States regulators [Food and Drug Administration (FDA)] for the treatment of DMD...
August 10, 2017: Nucleic Acid Therapeutics
https://www.readbyqxmd.com/read/28793824/dual-therapy-deflazacort-doxycyclyne-is-better-than-deflazacort-monotherapy-to-alleviate-cardiomyopathy-in-dystrophin-deficient-mdx-mice
#18
Juliano Alves Pereira, Adriana Fogagnolo Mauricio, Maria Julia Marques, Humberto Santo Neto
Cardiomyopathy related to the absence of dystrophin is an important feature in Duchenne muscular dystrophy (DMD) and in the mdx mouse. Doxycycline (DOX) could be a potential therapy for mdx skeletal muscles dystrophy. We investigated whether the corticoid deflazacort (DFZ) plus DOX could improve cardiac mdx dystrophy better than DFZ alone, later (17 months) in dystrophy. Mdx mice (8 months old) received DFZ/DOX or DFZ for 9 months. The combined therapy was greater than DFZ in reducing fibrosis (60% decrease with DFZ/DOX and 40% with DFZ alone) in the right ventricle and transforming growth factor β levels (6...
September 2017: Journal of Cardiovascular Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28793798/dual-aav-gene-therapy-for-duchenne-muscular-dystrophy-with-a-7-kb-mini-dystrophin-gene-in-the-canine-model
#19
Kasun Kodippili, Chady Hakim, Xiufang Pan, Hsiao T Yang, Yongping YUe, Yadong Zhang, Jin-Hong Shin, Nora N Yang, Dongsheng Duan
Dual adeno-associated virus (AAV) technology was developed in 2000 to double the packaging capacity of the AAV vector. The proof-of-principle has been demonstrated in various mouse models. Yet, pivotal evidence is lacking in large animal models of human diseases. Here we report expression of a 7-kb canine ∆H2-R15 mini-dystrophin gene using a pair of dual AAV vectors in the canine model of Duchenne muscular dystrophy (DMD). The ∆H2-R15 minigene is by far the most potent synthetic dystrophin gene engineered for DMD gene therapy...
August 10, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28792777/pulmonary-endpoints-in-duchenne-muscular-dystrophy-look-at-the-respiratory-muscles-structure-and-function-with-echography
#20
Abdallah Fayssoil
No abstract text is available yet for this article.
August 9, 2017: American Journal of Respiratory and Critical Care Medicine
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