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Duchenne muscular dystrophy

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https://www.readbyqxmd.com/read/28734761/patients-with-duchenne-muscular-dystrophy-are-significantly-shorter-than-those-with-becker-muscular-dystrophy-with-the-higher-incidence-of-short-stature-in-dp71-mutated-subgroup
#1
Masaaki Matsumoto, Hiroyuki Awano, Tomoko Lee, Yasuhiro Takeshima, Masafumi Matsuo, Kazumoto Iijima
Duchenne and Becker muscular dystrophy (DMD/BMD) are caused by mutations in the dystrophin gene and are characterized by severe and mild progressive muscle wasting, respectively. Short stature has been reported as a feature of DMD in the Western hemisphere, but not yet confirmed in Orientals. Height of young BMD has not been fully characterized. Here, height of ambulant and steroid naive Japanese 179 DMD and 42 BMD patients between 4 and 10 years of age was retrospectively examined using height standard deviation score (SDS)...
June 19, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28733321/noninvasive-respiratory-care-received-by-individuals-with-duchenne-muscular-dystrophy-since-1979-reply
#2
Jennifer G Andrews, Aida Soim, Shree Pandya, Christina P Westfield, Emma Ciafaloni, Deborah J Fox, David J Birnkrant, Christopher M Cunniff, Daniel W Sheehan
No abstract text is available yet for this article.
August 2017: Respiratory Care
https://www.readbyqxmd.com/read/28728957/treatment-of-duchenne-muscular-dystrophy-first-small-steps
#3
Claire L Wood, Tim Cheetham
No abstract text is available yet for this article.
July 17, 2017: Lancet
https://www.readbyqxmd.com/read/28728956/ataluren-in-patients-with-nonsense-mutation-duchenne-muscular-dystrophy-act-dmd-a-multicentre-randomised-double-blind-placebo-controlled-phase-3-trial
#4
Craig M McDonald, Craig Campbell, Ricardo Erazo Torricelli, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Peter Heydemann, Anna Kaminska, Janbernd Kirschner, Francesco Muntoni, Andrés Nascimento Osorio, Ulrike Schara, Thomas Sejersen, Perry B Shieh, H Lee Sweeney, Haluk Topaloglu, Már Tulinius, Juan J Vilchez, Thomas Voit, Brenda Wong, Gary Elfring, Hans Kroger, Xiaohui Luo, Joseph McIntosh, Tuyen Ong, Peter Riebling, Marcio Souza, Robert J Spiegel, Stuart W Peltz, Eugenio Mercuri
BACKGROUND: Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of disease; therefore, mutation-specific therapies aimed at restoring dystrophin protein production are being explored. We aimed to assess the efficacy and safety of ataluren in ambulatory boys with nonsense mutation DMD. METHODS: We did this multicentre, randomised, double-blind, placebo-controlled, phase 3 trial at 54 sites in 18 countries located in North America, Europe, the Asia-Pacific region, and Latin America...
July 17, 2017: Lancet
https://www.readbyqxmd.com/read/28727929/na-h-exchanger-and-proton-channel-in-heart-failure-associated-with-becker-and-duchenne-muscular-dystrophy
#5
Ghassan Bkaily, Danielle Jacques
Cardiomyopathy is found in patients with Duchenne (DMD) and Becker (BMD) muscular dystrophies which are linked muscle diseases caused by mutations in the dystrophin gene. Dystrophin defects are not limited to DMD but are also present in mild BMD. The hereditary cardiomyopathic hamster of the UM-X7.1 strain is a particular experimental model of heart failure (HF) leading to early death in muscular dystrophy (dystrophin deficiency and sarcoglycan mutation) and heart disease (δ-sarcoglycan deficiency and dystrophin mutation) in human DMD...
July 20, 2017: Canadian Journal of Physiology and Pharmacology
https://www.readbyqxmd.com/read/28709001/ciliary-hedgehog-signaling-restricts-injury-induced-adipogenesis
#6
Daniel Kopinke, Elle C Roberson, Jeremy F Reiter
Injured skeletal muscle regenerates, but with age or in muscular dystrophies, muscle is replaced by fat. Upon injury, muscle-resident fibro/adipogenic progenitors (FAPs) proliferated and gave rise to adipocytes. These FAPs dynamically produced primary cilia, structures that transduce intercellular cues such as Hedgehog (Hh) signals. Genetically removing cilia from FAPs inhibited intramuscular adipogenesis, both after injury and in a mouse model of Duchenne muscular dystrophy. Blocking FAP ciliation also enhanced myofiber regeneration after injury and reduced myofiber size decline in the muscular dystrophy model...
July 13, 2017: Cell
https://www.readbyqxmd.com/read/28706537/can-human-embryonic-stem-cell-derived-stromal-cells-serve-a-starting-material-for-myoblasts
#7
Yu Ando, Marie Saito, Masakazu Machida, Chikako Yoshida-Noro, Hidenori Akutsu, Masataka Takahashi, Masashi Toyoda, Akihiro Umezawa
A large number of myocytes are necessary to treat intractable muscular disorders such as Duchenne muscular dystrophy with cell-based therapies. However, starting materials for cellular therapy products such as myoblasts, marrow stromal cells, menstrual blood-derived cells, and placenta-derived cells have a limited lifespan and cease to proliferate in vitro. From the viewpoints of manufacturing and quality control, cells with a long lifespan are more suitable as a starting material. In this study, we generated stromal cells for future myoblast therapy from a working cell bank of human embryonic stem cells (ESCs)...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28701169/comparison-between-semg-and-force-as-control-interfaces-to-support-planar-arm-movements-in-adults-with-duchenne-a-feasibility-study
#8
Joan Lobo-Prat, Kostas Nizamis, Mariska M H P Janssen, Arvid Q L Keemink, Peter H Veltink, Bart F J M Koopman, Arno H A Stienen
BACKGROUND: Adults with Duchenne muscular dystrophy (DMD) can benefit from devices that actively support their arm function. A critical component of such devices is the control interface as it is responsible for the human-machine interaction. Our previous work indicated that surface electromyography (sEMG) and force-based control with active gravity and joint-stiffness compensation were feasible solutions for the support of elbow movements (one degree of freedom). In this paper, we extend the evaluation of sEMG- and force-based control interfaces to simultaneous and proportional control of planar arm movements (two degrees of freedom)...
July 12, 2017: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/28692198/longitudinal-community-walking-activity-in-duchenne-muscular-dystrophy
#9
Eileen G Fowler, Loretta A Staudt, Kent R Heberer, Susan E Sienko, Cathleen E Buckon, Anita M Bagley, Michael D Sussman, Craig M McDonald
INTRODUCTION: Natural history studies for Duchenne muscular dystrophy (DMD) have not included measures of community ambulation. METHODS: Step activity (SA) monitors quantified community ambulation in 42 boys with DMD (4-16 years) with serial enrollment up to 5 years using a repeated measures mixed model. Additionally, data were compared to 10-meter walk/run (10mWR) speed to determine validity and sensitivity. RESULTS: There was a significant decline in average strides/day and all stride rates (low, moderate, high, pediatric high) as a function of age (P<0...
July 10, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28690647/the-evolution-of-electrocardiographic-changes-in-patients-with-duchenne-muscular-dystrophies
#10
Woo Hyun Yoo, Min-Jung Cho, Peter Chun, Kwang Hun Kim, Je Sang Lee, Yong Beom Shin
PURPOSE: Myocardial dysfunction and dysrhythmias are inevitable consequences of Duchenne muscular dystrophy. We aimed to evaluate specific trends of electrocardiographic changes that reflect the progress of cardiomyopathy in patients with Duchenne muscular dystrophy. METHODS: Fifty electrocardiograms (ECGs) of 30 patients (ages 1 to 27 years) who had not been prescribed medications for heart failure treatment at the time of examination were retrospectively analyzed and compared with 116 ECGs of age-matched healthy 116 controls...
June 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28690390/integrated-care-of-muscular-dystrophies-in-italy-part-1-pharmacological-treatment-and-rehabilitative-interventions
#11
Luisa Politano, Marianna Scutifero, Melania Patalano, Alessandra Sagliocchi, Antonella Zaccaro, Federica Civati, Erika Brighina, Gianluca Vita, Sonia Messina, Maria Sframeli, Maria Elena Lombardo, Roberta Scalise, Giulia Colia, Maria Catteruccia, Angela Berardinelli, Maria Chiara Motta, Alessandra Gaiani, Claudio Semplicini, Luca Bello, Guja Astrea, Giulia Ricci, Maria Grazia D'Angelo, Giuseppe Vita, Marika Pane, Adele D'Amico, Umberto Balottin, Corrado Angelini, Roberta Battini, Lorenza Magliano
This paper describes the pharmacological therapies and rehabilitative interventions received by 502 patients with Muscular Dystrophies, evaluated in relation to patient's socio-demographic and clinical variables, and geographical areas. Data were collected by the MD-Socio-Demographic and Clinical Schedule (MD-SC-CS) and by the Family Problems Questionnaire (FPQ). The most part of the enrolled patients were in drug treatment. The number of the medications increased in relation to patient's age, disability degree and duration of illness and was higher among patients with Duchenne Muscular Dystrophy (DMD) compared with Becker (BMD) or Limb-Girdle Muscular Dystrophies (LGMD)...
March 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28690388/-23-na-mri-and-myometry-to-compare-eplerenone-vs-glucocorticoid-treatment-in-duchenne-dystrophy
#12
Philip A Glemser, Heike Jaeger, Armin M Nagel, Andreas E Ziegler, David Simons, Heinz-Peter Schlemmer, Frank Lehmann-Horn, Karin Jurkat-Rott, Marc-André Weber
In this pilot study we tested whether a low dose application of a mild diuretic substance such as eplerenone is beneficial in early stages of Duchenne muscular dystrophy using (23)Na und (1)H imaging, myometry, and clinical testing versus the glucocorticoid gold standard. Two 7-years old patients with DMD were examined on a 3T MRI system. (1)H MRI and (23)Na density-adapted 3-dimensional radial MRI sequences were performed both before and 1, 3 and 6 months after therapy with eplerenone respectively cortisone...
March 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28687062/evaluation-of-hand-orthoses-in-duchenne-muscular-dystrophy
#13
Johanna Weichbrodt, Britt-Marie Eriksson, Anna-Karin Kroksmark
PURPOSE: The purpose of this study was to evaluate whether treatment of boys with Duchenne muscular dystrophy using hand orthoses could benefit joint mobility, grip strength, or fine motor function. METHOD: Eight boys with Duchenne muscular dystrophy were provided with individually customised rest orthoses. The results were analysed using single-subject design. The study included a baseline and an intervention phase. A follow-up examination was also performed. RESULTS: Boys with less than 50° passive wrist extension mobility were included...
July 7, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28684086/modifier-genes-moving-from-pathogenesis-to-therapy
#14
Edward R B McCabe
This commentary will focus on how we can use our knowledge about the complexity of human disease and its pathogenesis to identify novel approaches to therapy. We know that even for single gene Mendelian disorders, patients with identical mutations often have different presentations and outcomes. This lack of genotype-phenotype correlation led us and others to examine the roles of modifier genes in the context of biological networks. These investigations have utilized vertebrate and invertebrate model organisms...
May 30, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28680110/deletions-not-duplications-or-small-mutations-are-the-predominante-new-mutations-in-the-dystrophin-gene
#15
Janusz G Zimowski, Magdalena Pawelec, Joanna K Purzycka, Walentyna Szirkowiec, Jacek Zaremba
Examination of the carrier state was performed in 744 unrelated mothers of the Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) probands with identified mutations in the dystrophin gene. Owing to that it was possible to assess frequency and type of new mutations in the gene. Contrary to the Japanese observations of Lee et al. published in this journal, we did not find significant differences in the carrier frequency between mothers of DMD and BMD patients. However, we found that new mutations in patients with deletions were significantly more frequent than in those with duplications and small mutations: of 564 unrelated patients with deletions, 236 (41...
July 6, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28669118/quantifying-fat-replacement-of-muscle-by-quantitative-mri-in-muscular-dystrophy
#16
REVIEW
Jedrzej Burakiewicz, Christopher D J Sinclair, Dirk Fischer, Glenn A Walter, Hermien E Kan, Kieren G Hollingsworth
The muscular dystrophies are rare orphan diseases, characterized by progressive muscle weakness: the most common and well known is Duchenne muscular dystrophy which affects young boys and progresses quickly during childhood. However, over 70 distinct variants have been identified to date, with different rates of progression, implications for morbidity, mortality, and quality of life. There are presently no curative therapies for these diseases, but a range of potential therapies are presently reaching the stage of multi-centre, multi-national first-in-man clinical trials...
July 1, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28668906/a-current-approach-to-heart-failure-in-duchenne-muscular-dystrophy
#17
REVIEW
Domenico D'Amario, Antonio Amodeo, Rachele Adorisio, Francesco Danilo Tiziano, Antonio Maria Leone, Gianluigi Perri, Piergiorgio Bruno, Massimo Massetti, Alessandra Ferlini, Marika Pane, Giampaolo Niccoli, Italo Porto, Gianluca A D'Angelo, Josip Anđelo Borovac, Eugenio Mercuri, Filippo Crea
Duchenne muscular dystrophy (DMD) is a genetic, progressive neuromuscular condition that is marked by the long-term muscle deterioration with significant implications of pulmonary and cardiac dysfunction. As such, end-stage heart failure (HF) in DMD is increasingly becoming the main cause of death in this population. The early detection of cardiomyopathy is often challenging, due to a long subclinical phase of ventricular dysfunction and difficulties in assessment of cardiovascular symptomatology in these patients who usually loose ambulation during the early adolescence...
July 1, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28667314/evaluation-of-muscular-changes-by-ultrasound-nakagami-imaging-in-duchenne-muscular-dystrophy
#18
Wen-Chin Weng, Po-Hsiang Tsui, Chia-Wei Lin, Chun-Hao Lu, Chun-Yen Lin, Jeng-Yi Shieh, Frank Leigh Lu, Ting-Wei Ee, Kuan-Wen Wu, Wang-Tso Lee
Duchenne muscular dystrophy (DMD) is the most common debilitating muscular disorder. Developing a noninvasive measure for monitoring the progression of this disease is critical. The present study tested the effectiveness of using ultrasound Nakagami imaging to evaluate the severity of the dystrophic process. A total of 47 participants (40 with DMD and 7 healthy controls) were recruited. Patients were classified into stage 1 (presymptomatic and ambulatory), stage 2 (early nonambulatory), and stage 3 (late nonambulatory)...
June 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28665499/restoration-of-pharyngeal-dilator-muscle-force-in-dystrophin-deficient-mdx-mice-following-co-treatment-with-neutralising-il-6-receptor-antibodies-and-urocortin-2
#19
David P Burns, Jane Rowland, Leonie Canavan, Kevin H Murphy, Molly Brannock, Dervla O'Malley, Ken D O'Halloran, Deirdre Edge
The mdx mouse model of Duchenne muscular dystrophy (DMD) shows evidence of impaired pharyngeal dilator muscle function. We hypothesised that inflammatory and stress-related factors are implicated in airway dilator muscle dysfunction. Six week old mdx (n = 26) and wild-type (WT; n = 26) mice received either saline (0.9% w v(-1) ) or a co-administration of neutralising IL-6 receptor antibodies (xIL-6R; 0.2 mg kg(-1) ) and corticotrophin releasing factor receptor 2 agonist (Urocortin 2; 30 μg kg(-1) ) over 2 weeks...
June 30, 2017: Experimental Physiology
https://www.readbyqxmd.com/read/28661408/a-note-from-the-editor-duchenne-muscular-dystrophy-genetics-the-fda-and-drug-pricing
#20
Mark Terry
DMD is a muscle-wasting disease. It is caused by mutations in the dystrophin gene which is found on the X chromosome. It has an X-linked recessive inheritance pattern and is passed on by the mother (carrier). It is a progressive disease that usually causes death in early adulthood-often in the 20s, although there have been improvements in treatment, so some patients make it into their 30s and occasionally 40s. In addition to the muscle wasting aspects, serious complications include heart or respiratory-related problems...
2017: Journal of the Association of Genetic Technologists
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