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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/28807665/a-comparative-study-of-care-practices-for-young-boys-with-duchenne-muscular-dystrophy-between-japan-and-european-countries-implications-of-early-diagnosis
#4
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
#5
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
#6
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/28802771/dmd-and-west-syndrome
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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/28790199/in-vivo-genome-editing-restores-dystrophin-expression-and-cardiac-function-in-dystrophic-mice
#13
Mona El Refaey, Li Xu, Yandi Gao, Benjamin D Canan, Tm A Adesanya, Sarah C Warner, Keiko Akagi, David E Symer, Peter J Mohler, Jianjie Ma, Paul M Janssen, Renzhi Han
Rationale: Duchenne muscular dystrophy (DMD) is a severe inherited form of muscular dystrophy caused by mutations in the reading frame of the dystrophin gene disrupting its protein expression. Dystrophic cardiomyopathy is a leading cause of death in DMD patients and currently no effective treatment exists to halt its progression. Recent advancement in genome editing technologies offers a promising therapeutic approach in restoring dystrophin protein expression. However, the impact of this approach on DMD cardiac function has yet to be evaluated...
August 8, 2017: Circulation Research
https://www.readbyqxmd.com/read/28777860/-unexpected-discovery-of-a-fetus-with-dmd-gene-deletion-using-single-nucleotide-polymorphism-array
#14
Shaobin Lin, Yu Zhou, Bingyi Zhou, Heng Gu
OBJECTIVE: To investigate the value of single nucleotide polymorphism array (SNP array) for the identification of de novo mutations in the DMD gene among fetuses. METHODS: G-banded karyotyping and SNP array were performed on a fetus with intrauterine growth restriction but without family history of Duchenne/Becker muscular dystrophy (DMD/BMD). Multiplex ligation-dependent probe amplification (MLPA) was subsequently applied on amniocytes and maternal peripheral blood sample to detect DMD gene deletion/duplication mutations...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28771244/de-novo-and-rare-inherited-copy-number-variations-in-the-hemiplegic-form-of-cerebral-palsy
#15
Mehdi Zarrei, Darcy L Fehlings, Karizma Mawjee, Lauren Switzer, Bhooma Thiruvahindrapuram, Susan Walker, Daniele Merico, Guillermo Casallo, Mohammed Uddin, Jeffrey R MacDonald, Matthew J Gazzellone, Edward J Higginbotham, Craig Campbell, Gabrielle deVeber, Pam Frid, Jan Willem Gorter, Carolyn Hunt, Anne Kawamura, Marie Kim, Anna McCormick, Ronit Mesterman, Dawa Samdup, Christian R Marshall, Dimitri J Stavropoulos, Richard F Wintle, Stephen W Scherer
PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs (<0...
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28763477/spatially-localized-phosphorous-metabolism-of-skeletal-muscle-in-duchenne-muscular-dystrophy-patients-24-month-follow-up
#16
M T Hooijmans, N Doorenweerd, C Baligand, J J G M Verschuuren, I Ronen, E H Niks, A G Webb, H E Kan
OBJECTIVES: To assess the changes in phosphodiester (PDE)-levels, detected by 31P magnetic resonance spectroscopy (MRS), over 24-months to determine the potential of PDE as marker for muscle tissue changes in Duchenne Muscular Dystrophy (DMD) patients. METHODS: Spatially resolved phosphorous datasets were acquired in the right lower leg of 18 DMD patients (range: 5-15.4 years) and 12 age-matched healthy controls (range: 5-14 years) at three time-points (baseline, 12-months, and 24-months) using a 7T MR-System (Philips Achieva)...
2017: PloS One
https://www.readbyqxmd.com/read/28762192/a-comprehensive-review-on-copemyl-%C3%A2
#17
REVIEW
Pietro Annovazzi, Antonio Bertolotto, Vincenzo Brescia Morra, Claudio Gasperini, Enrico Montanari, Pierluigi Navarra, Francesco Patti, Maria Pia Sormani, Angelo Ghezzi
Economic sustainability is of paramount importance in the rapidly evolving therapeutic scenario of multiple sclerosis (MS). Glatiramoids are a class of drugs whose forefather, glatiramer acetate, has been used as a disease modifying drug (DMD) in patients with MS for over 20 years. Its patent expired in 2015; new versions of such drug are nowadays available on the market, potentially contributing to lowering prices and enhancing a better allocation of economic resources. In this review, we analyze the recommendations underlying the approval of both generic drugs and biosimilars by regulatory authorities, and we provide methodological tools to contextualize the design of studies on these new classes of drugs...
July 31, 2017: Neurology and Therapy
https://www.readbyqxmd.com/read/28762167/elevated-myocardial-extracellular-volume-fraction-in-duchenne-muscular-dystrophy
#18
James J Starc, Ryan A Moore, Mantosh S Rattan, Chet R Villa, Zhiqian Gao, Wojciech Mazur, John L Jefferies, Michael D Taylor
Duchenne muscular dystrophy (DMD) is a genetic, X-linked recessive disease with an associated cardiomyopathy characterized by myocardial fibrosis leading to heart failure, arrhythmias, and death. Earlier detection and treatment of cardiac involvement in DMD hold potential to improve outcomes. Cardiovascular magnetic resonance (CMR) extracellular volume (ECV) quantification using T1 mapping is a histologically validated, non-invasive marker of diffuse fibrosis. This study aims to determine the ECV in a pediatric DMD population, and correlate it with metrics of left ventricular function...
July 31, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28758940/non-targeted-metabolomics-analysis-of-golden-retriever-muscular-dystrophy-affected-muscles-reveals-alterations-in-arginine-and-proline-metabolism-and-elevations-in-glutamic-and-oleic-acid-in-vivo
#19
Muhammad Abdullah, Joe N Kornegay, Aubree Honcoop, Traci L Parry, Cynthia J Balog-Alvarez, Sara K O'Neal, James R Bain, Michael J Muehlbauer, Christopher B Newgard, Cam Patterson, Monte S Willis
BACKGROUND: Like Duchenne muscular dystrophy (DMD), the Golden Retriever Muscular Dystrophy (GRMD) dog model of DMD is characterized by muscle necrosis, progressive paralysis, and pseudohypertrophy in specific skeletal muscles. This severe GRMD phenotype includes moderate atrophy of the biceps femoris (BF) as compared to unaffected normal dogs, while the long digital extensor (LDE), which functions to flex the tibiotarsal joint and serves as a digital extensor, undergoes the most pronounced atrophy...
July 29, 2017: Metabolites
https://www.readbyqxmd.com/read/28756052/proceedings-of-a-parent-project-muscular-dystrophy-bone-health-workshop-morbidity-due-to-osteoporosis-in-dmd-the-path-forward-may-12-13-2016-bethesda-maryland-usa
#20
Leanne M Ward, Kathi Kinnett, Lynda Bonewald
No abstract text is available yet for this article.
May 15, 2017: Neuromuscular Disorders: NMD
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