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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
#1
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
#2
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/28718293/functional-design-of-dielectric-metal-dielectric-based-thin-film-encapsulation-with-heat-transfer-and-flexibility-for-flexible-displays
#3
Jeong Hyun Kwon, Seungyeop Choi, Yongmin Jeon, Hyuncheol Kim, Ki Soo Chang, Kyung Cheol Choi
In this study, a new and efficient dielectric-metal-dielectric-based thin-film encapsulation (DMD-TFE) with an inserted Ag thin film is proposed to guarantee the reliability of flexible displays by improving the barrier properties, mechanical flexibility, and heat dissipation, considered as essential requirements for OLED encapsulation. The DMD-TFE, which is composed of Al2O3, Ag, and a silica nanoparticle-embedded sol-gel hybrid nanocomposite, shows a water vapor transmission rate of 8.70 × 10-6 g/m2/day and good mechanical reliability at a bending radius of 30 mm corresponding to 0...
July 18, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28717560/ultra-high-speed-digital-micro-mirror-device-based-ptychographic-iterative-engine-method
#4
Aihui Sun, Xiaoliang He, Yan Kong, Haoyang Cui, Xiaojun Song, Liang Xue, Shouyu Wang, Cheng Liu
To reduce the long data acquisition time of the common mechanical scanning based Ptychographic Iterative Engine (PIE) technique, the digital micro-mirror device (DMD) is used to form the fast scanning illumination on the sample. Since the transverse mechanical scanning in the common PIE is replaced by the on/off switching of the micro-mirrors, the data acquisition time can be reduced from more than 15 minutes to less than 20 seconds for recording 12 × 10 diffraction patterns to cover the same field of 147...
July 1, 2017: Biomedical Optics Express
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
#5
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/28695211/solving-protein-structures-using-short-distance-cross-linking-constraints-as-a-guide-for-discrete-molecular-dynamics-simulations
#6
Nicholas I Brodie, Konstantin I Popov, Evgeniy V Petrotchenko, Nikolay V Dokholyan, Christoph H Borchers
We present an integrated experimental and computational approach for de novo protein structure determination in which short-distance cross-linking data are incorporated into rapid discrete molecular dynamics (DMD) simulations as constraints, reducing the conformational space and achieving the correct protein folding on practical time scales. We tested our approach on myoglobin and FK506 binding protein-models for α helix-rich and β sheet-rich proteins, respectively-and found that the lowest-energy structures obtained were in agreement with the crystal structure, hydrogen-deuterium exchange, surface modification, and long-distance cross-linking validation data...
July 2017: Science Advances
https://www.readbyqxmd.com/read/28692198/longitudinal-community-walking-activity-in-duchenne-muscular-dystrophy
#7
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/28690390/integrated-care-of-muscular-dystrophies-in-italy-part-1-pharmacological-treatment-and-rehabilitative-interventions
#8
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
#9
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/28686420/mechanistic-insights-from-discrete-molecular-dynamics-simulations-of-pesticide-nanoparticle-interactions
#10
Nicholas K Geitner, Weilu Zhao, Feng Ding, Wei Chen, Mark R Wiesner
Nanoscale particles have the potential to modulate the transport, lifetimes, and ultimate uptake of pesticides that may otherwise be bound to agricultural soils. Engineered nanoparticles provide a unique platform for studying these interactions. In this study, we utilized discrete molecular dynamics (DMD) as a screening tool for examining nanoparticle-pesticide adsorptive interactions. As a proof-of-concept, we selected a library of 15 pesticides common in the United States and 4 nanomaterials with likely natural or incidental sources, and simulated all possible nanoparticle-pesticide pairs...
July 19, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28680110/deletions-not-duplications-or-small-mutations-are-the-predominante-new-mutations-in-the-dystrophin-gene
#11
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/28671580/design-and-parametric-study-of-the-magnetic-sensor-for-position-detection-in-linear-motor-based-on-nonlinear-parametric-model-order-reduction
#12
Sarbajit Paul, Junghwan Chang
This paper presents a design approach for a magnetic sensor module to detect mover position using the proper orthogonal decomposition-dynamic mode decomposition (POD-DMD)-based nonlinear parametric model order reduction (PMOR). The parameterization of the sensor module is achieved by using the multipolar moment matching method. Several geometric variables of the sensor module are considered while developing the parametric study. The operation of the sensor module is based on the principle of the airgap flux density distribution detection by the Hall Effect IC...
July 1, 2017: Sensors
https://www.readbyqxmd.com/read/28668906/a-current-approach-to-heart-failure-in-duchenne-muscular-dystrophy
#13
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
#14
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
#15
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/28663912/digital-micromirror-based-near-infrared-illumination-system-for-plasmonic-photothermal-neuromodulation
#16
Hyunjun Jung, Hongki Kang, Yoonkey Nam
Light-mediated neuromodulation techniques provide great advantages to investigate neuroscience due to its high spatial and temporal resolution. To generate a spatial pattern of neural activity, it is necessary to develop a system for patterned-light illumination to a specific area. Digital micromirror device (DMD) based patterned illumination system have been used for neuromodulation due to its simple configuration and design flexibility. In this paper, we developed a patterned near-infrared (NIR) illumination system for region specific photothermal manipulation of neural activity using NIR-sensitive plasmonic gold nanorods (GNRs)...
June 1, 2017: Biomedical Optics Express
https://www.readbyqxmd.com/read/28662635/an-alternative-technique-for-descemet-s-membrane-detachment-following-phacoemulsification-case-report-and-review-of-literature
#17
Yan Weng, Yu-Ping Ren, Li Zhang, Xiao-Dan Huang, Xing-Chao Shen-Tu
BACKGROUND: Descemet's membrane detachment (DMD) is one of the most serious complications of modern cataract surgery. We present an alternative technique for management of DMD with a review of the literature on current strategies for the treatment of DMD. CASE PRESENTATION: A 74-year-old woman developed DMD after phacoemulsification and failed the first descemetopexy with air tamponade. An alternative method was used to drain the pre-descematic fluid and reposition the detached Descemet's membrane in this rare case...
June 29, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28661408/a-note-from-the-editor-duchenne-muscular-dystrophy-genetics-the-fda-and-drug-pricing
#18
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
https://www.readbyqxmd.com/read/28653137/duchenne-muscular-dystrophy-a-practice-update
#19
Renu Suthar, Naveen Sankhyan
Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder caused by a deficient or defective synthesis of dystrophin protein. DMD is the most common form of muscular dystrophy with an incidence of about 1 in 5000 live boys. Though primarily resulting in progressive muscle weakness, it affects various other organs as well. Heart, brain and smooth muscles are commonly involved, because of expression of dystrophin in these organs. The management of DMD requires a multidisciplinary liaison, anticipatory management and prevention of the complications...
June 27, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28645460/associations-between-timing-of-corticosteroid-treatment-initiation-and-clinical-outcomes-in-duchenne-muscular-dystrophy
#20
Sunkyung Kim, Yong Zhu, Paul A Romitti, Deborah J Fox, Daniel W Sheehan, Rodolfo Valdez, Dennis Matthews, Brent J Barber
The long-term efficacy of corticosteroid treatment and timing of treatment initiation among Duchenne muscular dystrophy (DMD) patients is not well-understood. We used data from a longitudinal, population-based DMD surveillance program to examine associations between timing of treatment initiation (early childhood [before or at age 5 years], late childhood [after age 5 years], and naïve [not treated]) and five clinical outcomes (age at loss of ambulation; ages at onset of cardiomyopathy, scoliosis, and first fracture; and pulmonary function)...
June 5, 2017: Neuromuscular Disorders: NMD
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