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Duchennes muscular dystrophy

A Nalini
No abstract text is available yet for this article.
March 2018: Neurology India
Maria Siemionow, Joanna Cwykiel, Ahlke Heydemann, Jesus Garcia, Enza Marchese, Krzysztof Siemionow, Erzsebet Szilagyi
Duchenne Muscular Dystrophy (DMD) is a progressive and lethal disease caused by mutations of the dystrophin gene. Currently no cure exists. Stem cell therapies targeting DMD are challenged by limited engraftment and rejection despite the use of immunosuppression. There is an urgent need to introduce new stem cell-based therapies that exhibit low allogenic profiles and improved cell engraftment. In this proof-of-concept study, we develop and test a new human stem cell-based approach to increase engraftment, limit rejection, and restore dystrophin expression in the mdx/scid mouse model of DMD...
March 15, 2018: Stem Cell Reviews
Shree Pandya, Katherine A James, Christina Westfield, Shiny Thomas, Deborah J Fox, Emma Ciafaloni, Richard T Moxley
INTRODUCTION: As the DMD population ages, it is essential that we understand the late stage health profile and provide appropriate care to this emerging population. METHODS: A descriptive study to document the health profile of a cohort of adults with DMD using data from the Muscular Dystrophy Surveillance Tracking and Research network (MD STARnet). Data included information collected from Arizona, Colorado, Iowa, Georgia and 12 counties in western New York on individuals born since January 1982 and followed through December 2012...
March 15, 2018: Muscle & Nerve
Mohammad Nauzef Mahmood, Laura H C Peeters, Micha Paalman, Gijsbertus J Verkerke, Idsart Kingma, Jaap H van Dieën
BACKGROUND: Patients with Duchenne muscular dystrophy gradually lose the ability to use different muscles of their body. Consequently, they lose the ability to stabilize their trunk against gravity. This hinders them to effectively perform different daily activities. In this paper, we describe the design, realization and evaluation of a trunk orthosis for these patients that should allow them to move their trunk and maintain stability. METHOD: This study aimed to primarily assess the effectiveness of the trunk support system in terms of unloading of trunk muscles, so only healthy participants were recruited for this phase of the study...
March 14, 2018: Journal of Neuroengineering and Rehabilitation
Olivier Delalande, Anne-Elisabeth Molza, Raphael Dos Santos-Morais, Angélique Chéron, Émeline Pollet, Céline Raguenes-Nicol, Christophe Tascon, Emmanuel Giudice, Marine Guilbaud, Aurélie Nicolas, Arnaud Bondon, France Leturcq, Nicolas Férey, Marc Baaden, Javier Perez, Pierre Roblin, France Piétri-Rouxel, Jean-François Hubert, Mirjam Czjzek, Elisabeth Le Rumeur
Dystrophin, encoded by the DMD gene, is critical for maintaining plasma membrane integrity during muscle contraction events. Mutations in the DMD gene disrupting the reading frame prevent dystrophin production and result in the high severe Duchenne muscular dystrophy (DMD); in-frame internal deletions allow production of partly functional internally deleted dystrophin and result in the less severe Becker muscular dystrophy (BMD). Many known BMD deletions occur in dystrophin's central domain, generally considered to be a monotonous rod-shaped domain based on the knowledge of spectrin-family proteins...
March 13, 2018: Journal of Biological Chemistry
Masae Kato
Globally, genomics research is expected to enhance the health of patients with intractable diseases such as Duchenne muscular dystrophy (DMD). But how do patients perceive medical and scientific attempts at creating drugs and finding cure, and why? Since the 1990s, a number of clinical trials for patients of DMD have been organized. Among them are a gene therapy and exon skipping, and they indicate the possibility of finding therapies for DMD patients. Since 2011, Japanese medical institutions have been participating in Global Clinical Trials so that Japanese DMD patients can have access to them once developed...
April 2018: Anthropology & Medicine
Mary Wang, David J Birnkrant, Dennis M Super, Irwin B Jacobs, Robert C Bahler
Objective: To describe the natural history of cardiomyopathy in patients with Duchenne muscular dystrophy (DMD) who are receiving contemporary therapies. Methods: This is a single-institution retrospective cohort study of 57 patients aged >15 years with DMD. Serial digital echocardiograms were performed over a median follow-up of 8 years. Left ventricular dysfunction (LVD) was defined as shortening fraction (SF) <29% plus focal wall motion abnormalities...
2018: Open Heart
Sara C Atehortúa, Luz H Lugo, Mateo Ceballos, Esteban Orozco, Paula A Castro, Juan C Arango, Heidi E Mateus
OBJECTIVES: To determine the cost-effectiveness ratio of different courses of action for the diagnosis of Duchenne or Becker muscular dystrophy in Colombia. METHODS: The cost-effectiveness analysis was performed from the Colombian health system perspective. Decision trees were constructed, and different courses of action were compared considering the following tests: immunohistochemistry (IHC), Western blot (WB), multiplex polymerase chain reaction, multiplex ligation-dependent probe amplification (MLPA), and the complete sequencing of the dystrophin gene...
March 9, 2018: Value in Health Regional Issues
Silvia Parolo, Luca Marchetti, Mario Lauria, Karla Misselbeck, Marie-Pier Scott-Boyer, Laura Caberlotto, Corrado Priami
Although the genetic basis of Duchenne muscular dystrophy has been known for almost thirty years, the cellular and molecular mechanisms characterizing the disease are not completely understood and an efficacious treatment remains to be developed. In this study we analyzed proteomics data obtained with the SomaLogic technology from blood serum of a cohort of patients and matched healthy subjects. We developed a workflow based on biomarker identification and network-based pathway analysis that allowed us to describe different deregulated pathways...
2018: PloS One
Michio Kobayashi, Tomoyuki Hatakeyama, Masatoshi Ishizaki, Katsuhito Adachi, Mizuki Morita, Naohiro Yonemoto, Tsuyoshi Matsumura, Itaru Toyoshima, En Kimura
Objective This study attempted to clarify the current status of female dystrophinopathy carriers, including the numbers of patients, the status of genetic screening, the status of counseling, physicians' understanding, and barriers to registration. Methods We sent out questionnaires to 402 physicians registered in the Remudy dystrophinopathy registry. The total number of responses received was 130 (response rate: 32%). Result In total, 1,212 cases of Duchenne muscular dystrophy, 365 cases of Becker muscular dystrophy, and 132 cases of female dystrophinopathy with a confirmed genetic mutation were encountered, and genetic testing was performed in the mother in 137, 23, and 12 cases, respectively...
March 9, 2018: Internal Medicine
A Nascimento Osorio, J Medina Cantillo, A Camacho Salas, M Madruga Garrido, J J Vilchez Padilla
INTRODUCTION: Duchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of approximately 0.5 cases per 10,000 male births. It is characterised by a progressive muscular weakness manifesting in early childhood, with the subsequent appearance of musculoskeletal, respiratory, and cardiac complications, causing disability, dependence, and premature death. Currently, DMD is mainly managed with multidisciplinary symptomatic treatment, with favourable results in terms of the progression of the disease...
March 8, 2018: Neurología: Publicación Oficial de la Sociedad Española de Neurología
Joyce C Ohiri, Elizabeth M McNally
With an increasing understanding of genetic defects leading to cardiomyopathy, focus is shifting to correcting these underlying genetic defects. One approach involves treating mutant RNA through antisense oligonucleotides; the first drug has received regulatory approval to treat specific mutations associated with Duchenne muscular dystrophy. Gene editing is being evaluated in the preclinical setting. For inherited cardiomyopathies, genetic correction strategies require tight specificity for the mutant allele...
April 2018: Heart Failure Clinics
William B Stoughton, Jianrong Li, Cindy Balog-Alvarez, Joe N Kornegay
Introduction Duchenne muscular dystrophy (DMD) and golden retriever muscular dystrophy (GRMD) are X-linked disorders caused by mutations in the DMD gene. Autophagy was recently identified as a secondary therapeutic target for DMD. We hypothesized that autophagy would be reduced in GRMD. Methods Autophagic gene and protein expression was assessed in normal and GRMD skeletal muscles and correlated with phenotypic biomarkers. Results Muscles were differentially affected. Autophagy gene levels were lower than normal in the GRMD cranial sartorius (CS) but similar in the vastus lateralis (VL)...
March 7, 2018: Muscle & Nerve
Sarah Morar Schneider, Vidya Sridhar, Amanda K Bettis, Heather Heath-Barnett, Cynthia J Balog-Alvarez, Lee-Jae Guo, Rachel Johnson, Scott Jaques, Stanislav Vitha, Alan C Glowcwski, Joe N Kornegay, Peter P Nghiem
PURPOSE: Metabolic dysfunction in Duchenne muscular dystrophy (DMD) is characterized by reduced glycolytic and oxidative enzymes, decreased and abnormal mitochondria, decreased ATP, and increased oxidative stress. We analyzed glucose metabolism as a potential disease biomarker in the genetically homologous golden retriever muscular dystrophy (GRMD) dog with molecular, biochemical, and in vivo imaging. PROCEDURES: Pelvic limb skeletal muscle and left ventricle tissue from the heart were analyzed by mRNA profiling, qPCR, western blotting, and immunofluorescence microscopy for the primary glucose transporter (GLUT4)...
March 5, 2018: Molecular Imaging and Biology: MIB: the Official Publication of the Academy of Molecular Imaging
Peter J Simm, Andrew Biggin, Margaret R Zacharin, Christine P Rodda, Elaine Tham, Aris Siafarikas, Craig Jefferies, Paul L Hofman, Diane E Jensen, Helen Woodhead, Justin Brown, Benjamin J Wheeler, Denise Brookes, Antony Lafferty, Craig F Munns
Bisphosphonate therapy is the mainstay of pharmacological intervention in young people with skeletal fragility. The evidence of its use in a variety of conditions remains limited despite over three decades of clinical experience. On behalf of the Australasian Paediatric Endocrine Group, this evidence-based consensus guideline presents recommendations and discusses the graded evidence (using the GRADE system) for these recommendations. Primary bone fragility disorders such as osteogenesis imperfecta are considered separately from osteoporosis secondary to other clinical conditions (such as cerebral palsy, Duchenne muscular dystrophy)...
March 2018: Journal of Paediatrics and Child Health
Pavithra S Iyer, Lionel O Mavoungou, Flavio Ronzoni, Joanna Zemla, Emanuel Schmid-Siegert, Stefania Antonini, Laurence A Neff, Olivier M Dorchies, Marisa Jaconi, Malgorzata Lekka, Graziella Messina, Nicolas Mermod
Duchenne muscular dystrophy (DMD) is a lethal muscle-wasting disease currently without cure. We investigated the use of the PiggyBac transposon for full-length dystrophin expression in murine mesoangioblast (MABs) progenitor cells. DMD murine MABs were transfected with transposable expression vectors for full-length dystrophin and transplanted intramuscularly or intra-arterially into mdx/SCID mice. Intra-arterial delivery indicated that the MABs could migrate to regenerating muscles to mediate dystrophin expression...
February 2, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
Claire Domenger, Marine Allais, Virginie François, Adrien Léger, Emilie Lecomte, Marie Montus, Laurent Servais, Thomas Voit, Philippe Moullier, Yann Audic, Caroline Le Guiner
Non-coding uridine-rich small nuclear RNAs (UsnRNAs) have emerged in recent years as effective tools for exon skipping for the treatment of Duchenne muscular dystrophy (DMD), a degenerative muscular genetic disorder. We recently showed the high capacity of a recombinant adeno-associated virus (rAAV)-U7snRNA vector to restore the reading frame of the DMD mRNA in the muscles of DMD dogs. We are now moving toward a phase I/II clinical trial with an rAAV-U7snRNA-E53, carrying an antisense sequence designed to hybridize exon 53 of the human DMD messenger...
March 2, 2018: Molecular Therapy. Nucleic Acids
Carl Baribault, Kenneth C Ehrlich, V K Chaithanya Ponnaluri, Sriharsa Pradhan, Michelle Lacey, Melanie Ehrlich
DNA methylation can affect tissue-specific gene transcription in ways that are difficult to discern from studies focused on genome-wide analyses of differentially methylated regions (DMRs). To elucidate the variety of associations between differentiation-related DNA hypermethylation and transcription, we used available epigenomic and transcriptomic profiles from 38 human cell/tissue types to focus on such relationships in 94 genes linked to hypermethylated DMRs in myoblasts (Mb). For 19 of the genes, promoter-region hypermethylation in Mb (and often a few heterologous cell types) was associated with gene repression but, importantly, DNA hypermethylation was absent in many other repressed samples...
March 2, 2018: Epigenetics: Official Journal of the DNA Methylation Society
Nathalie Doorenweerd, Ahmed Mahfouz, Maaike van Putten, Rajaram Kaliyaperumal, Peter A C T' Hoen, Jos G M Hendriksen, Annemieke M Aartsma-Rus, Jan J G M Verschuuren, Erik H Niks, Marcel J T Reinders, Hermien E Kan, Boudewijn P F Lelieveldt
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.
March 1, 2018: Scientific Reports
Robert G Barker, Barnaby P Frankish, Hongyang Xu, Robyn M Murphy
Duchenne muscular dystrophy (DMD) patients and the dystrophic mdx mouse have an elevated demand for ATP requiring processes, including Ca2+ regulation and skeletal muscle regeneration. As a key substrate for cellular ATP production, altered glycogen metabolism may contribute significantly to dystrophic pathology and explain reports of mild glucose intolerance. We compare the soleus and extensor digitorum longus (EDL) muscles of the mdx mouse during active muscle necrosis (at 28 days) and at 70 days where pathology is stable...
March 2018: Physiological Reports
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