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https://www.readbyqxmd.com/read/28334037/ang1-treatment-reduces-muscle-pathology-and-prevents-a-decline-in-perfusion-in-dmd-mice
#1
Kelly M Gutpell, Nikola Tasevski, Boaz Wong, William Thomas Hrinivich, Feng Su, Jennifer Hadway, Lise Desjardins, Ting-Yim Lee, Lisa Marie Hoffman
Vascular endothelial growth factor (VEGF) and other pro-angiogenic growth factors have been investigated to enhance muscle tissue perfusion and repair in Duchenne muscular dystrophy (DMD). Current understanding is limited by a lack of functional data following in vivo delivery of these growth factors. We previously used dynamic contrast-enhanced computed tomography to monitor disease progression in murine models of DMD, but no study to date has utilized this imaging technique to assess vascular therapy in a preclinical model of DMD...
2017: PloS One
https://www.readbyqxmd.com/read/28332368/multiplex-ligation-dependent-probe-amplification-in-x-linked-recessive-muscular-dystrophy-in-korean-subjects
#2
Mi Ri Suh, Kyung A Lee, Eun Young Kim, Jiho Jung, Won Ah Choi, Seong Woong Kang
PURPOSE: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are similar genetic disorders whose patterns of mutation and disease phenotypes might be expected to show differences among different countries. We analyzed multiplex ligation-dependent probe amplification (MLPA) data in a large number of Korean patients with DMD/BMD. MATERIALS AND METHODS: We obtained 130 positive MLPA results (86 DMD, 27 BMD, and 17 female carriers) from 272 candidates (237 clinically suspected patients and 35 possible female carriers) who took part in this study...
May 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28325281/systemic-antisense-therapeutics-for-dystrophin-and-myostatin-exon-splice-modulation-improve-muscle-pathology-of-adult-mdx-mice
#3
Ngoc Lu-Nguyen, Alberto Malerba, Linda Popplewell, Fred Schnell, Gunnar Hanson, George Dickson
Antisense-mediated exon skipping is a promising approach for the treatment of Duchenne muscular dystrophy (DMD), a rare life-threatening genetic disease due to dystrophin deficiency. Such an approach can restore the disrupted reading frame of dystrophin pre-mRNA, generating a truncated form of the protein. Alternatively, antisense therapy can be used to induce destructive exon skipping of myostatin pre-mRNA, knocking down myostatin expression to enhance muscle strength and reduce fibrosis. We have reported previously that intramuscular or intraperitoneal antisense administration inducing dual exon skipping of dystrophin and myostatin pre-mRNAs was beneficial in mdx mice, a mouse model of DMD, although therapeutic effects were muscle type restricted, possibly due to the delivery routes used...
March 17, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28324973/force-controlled-ultrasound-to-measure-passive-mechanical-properties-of-muscle-in-duchenne-muscular-dystrophy
#4
Anne J Pigula, Jim S Wu, Matthew W Gilbertson, Basil T Darras, Seward B Rutkove, Brian W Anthony
The purpose of this study is to assess differences in skeletal muscle compressibility between patients with Duchenne muscular dystrophy (DMD) and normal subjects. The transverse passive mechanical properties of muscle, particularly those related to stiffness and elasticity, can be measured using force-controlled ultrasound. We acquired ultrasound videos of muscle compression under known pressures in the biceps and quadriceps in 23 boys with DMD and 20 age-matched healthy controls. We calculated the bulk linear spring constant, nonlinear stress-strain response, and average Young's modulus for each...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28324076/first-corticosteroid-approved-for-duchenne-muscular-dystrophy
#5
Rebecca Voelker
No abstract text is available yet for this article.
March 21, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28318817/clinical-and-mutational-characteristics-of-duchenne-muscular-dystrophy-patients-based-on-a-comprehensive-database-in-south-china
#6
Dan-Ni Wang, Zhi-Qiang Wang, Lei Yan, Jin He, Min-Ting Lin, Wan-Jin Chen, Ning Wang
The development of clinical trials for Duchenne muscular dystrophy (DMD) in China faces many challenges due to limited information about epidemiological data, natural history and clinical management. To provide these detailed data, we developed a comprehensive database based on registered DMD patients from South China and analysed their clinical and mutational characteristics. The database included DMD registrants confirmed by clinical presentation, family history, genetic detection, prognostic outcome, and/or muscle biopsy...
February 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28316128/skewed-x-chromosome-inactivation-plays-a-crucial-role-in-the-onset-of-symptoms-in-carriers-of-becker-muscular-dystrophy
#7
Emanuela Viggiano, Esther Picillo, Manuela Ergoli, Alessandra Cirillo, Stefania Del Gaudio, Luisa Politano
BACKGROUND: Becker muscular dystrophy (BMD) is an X-linked recessive disorder affecting about 1:18,000 male births. Female carriers are usually asymptomatic, but 2.5-18% may present muscle or heart symptoms. In the present work the role of the X chromosome inactivation (XCI) on the onset of symptoms in BMD carriers was analysed and compared with the pattern observed in Duchenne muscular dystrophy (DMD) carriers. METHODS: XCI was determined on the lymphocytes of 36 BMD carriers - both symptomatic and not symptomatic - from 11 families requiring genetic advice at the Cardiomyology and Medical Genetics of the Second University of Naples, through the AR methylation-based assay...
March 18, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28315675/low-intensity-training-and-the-c5a-complement-antagonist-nox-d21-rescue-the-mdx-phenotype-through-modulation-of-inflammation
#8
Janek Hyzewicz, Jun Tanihata, Mutsuki Kuraoka, Yuko Nitahara-Kasahara, Teiva Beylier, Urs T Ruegg, Axel Vater, Shin'ichi Takeda
Inflammatory events occurring in dystrophic muscles contribute to the progression of Duchenne muscular dystrophy (DMD). Low-intensity training (LIT) attenuates the phenotype of mdx mice, an animal model for DMD. Therefore, we postulated that LIT could have anti-inflammatory properties. We assessed levels of inflammatory cytokines and infiltrated immune cells in gastrocnemius muscle of mdx mice after LIT. We detected high levels of complement component C5a, chemokine ligand (CCL) 2, CD68(+) monocytes/macrophages, and proinflammatory M1 macrophages in muscles of mdx mice...
March 15, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28303972/lentiviral-vectors-can-be-used-for-full-length-dystrophin-gene-therapy
#9
John R Counsell, Zeinab Asgarian, Jinhong Meng, Veronica Ferrer, Conrad A Vink, Steven J Howe, Simon N Waddington, Adrian J Thrasher, Francesco Muntoni, Jennifer E Morgan, Olivier Danos
Duchenne Muscular Dystrophy (DMD) is caused by a lack of dystrophin expression in patient muscle fibres. Current DMD gene therapy strategies rely on the expression of internally deleted forms of dystrophin, missing important functional domains. Viral gene transfer of full-length dystrophin could restore wild-type functionality, although this approach is restricted by the limited capacity of recombinant viral vectors. Lentiviral vectors can package larger transgenes than adeno-associated viruses, yet lentiviral vectors remain largely unexplored for full-length dystrophin delivery...
March 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28302391/non-uniform-muscle-fat-replacement-along-the-proximodistal-axis-in-duchenne-muscular-dystrophy
#10
M T Hooijmans, E H Niks, J Burakiewicz, C Anastasopoulos, S I van den Berg, E van Zwet, A G Webb, J J G M Verschuuren, H E Kan
The progressive replacement of muscle tissue by fat in Duchenne muscular dystrophy (DMD) has been studied using quantitative MRI between, but not within, individual muscles. We studied fat replacement along the proximodistal muscle axis using the Dixon technique on a 3T MR scanner in 22 DMD patients and 12 healthy controls. Mean fat fractions per muscle per slice for seven lower and upper leg muscles were compared between and within groups assuming a parabolic distribution. Average fat fraction for a small central slice stack and a large coverage slice stack were compared to the value when the stack was shifted one slice (15 mm) up or down...
February 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28302142/maximum-inspiratory-pressure-as-a-clinically-meaningful-trial-endpoint-for-neuromuscular-diseases-a-comprehensive-review-of-the-literature
#11
REVIEW
Benedikt Schoser, Edward Fong, Tarekegn Geberhiwot, Derralynn Hughes, John T Kissel, Shyam C Madathil, David Orlikowski, Michael I Polkey, Mark Roberts, Harm A W M Tiddens, Peter Young
Respiratory muscle strength is a proven predictor of long-term outcome of neuromuscular disease (NMD), including amyotrophic lateral sclerosis, Duchenne muscular dystrophy, and spinal muscular atrophy. Maximal inspiratory pressure (MIP), a sensitive measure of respiratory muscle strength, one of several useful tests of respiratory muscle strength, is gaining interest as a therapeutic clinical trial endpoint for NMD. In this comprehensive review we investigate the use of MIP as a measure of respiratory muscle strength in clinical trials of therapeutics targeting respiratory muscle, examine the correlation of MIP with survival, quality of life, and other measures of pulmonary function, and outline the role of MIP as a clinically significantly meaningful outcome measure...
March 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28300461/evaluation-of-serial-casting-for-boys-with-duchenne-muscular-dystrophy-a-case-report
#12
Kate Carroll, Katy de Valle, Andrew Kornberg, Monique Ryan, Rachel Kennedy
AIM: To report the effects of below-knee serial casting in two boys with Duchenne muscular dystrophy who presented with well-preserved strength and calf shortening. METHODS: Bilateral below-knee serial casts were applied over two weeks with follow-up of daily stretching and wearing of customized night splints. Outcome measures were performed at baseline, 1, 3, 6, and 12 months post-casting. These included measures of calf length, leg strength, motor function, endurance, and spatio-temporal gait parameters...
March 16, 2017: Physical & Occupational Therapy in Pediatrics
https://www.readbyqxmd.com/read/28298286/echo-parameters-for-differential-diagnosis-in-cardiac-amyloidosis-a-head-to-head-comparison-of-deformation-and-nondeformation-parameters
#13
Efstathios D Pagourelias, Oana Mirea, Jürgen Duchenne, Johan Van Cleemput, Michel Delforge, Jan Bogaert, Tatyana Kuznetsova, Jens-Uwe Voigt
BACKGROUND: A plethora of echo parameters has been suggested for distinguishing cardiac amyloidosis (CA) from other causes of myocardial thickening with, however, scarce data on their head-to-head comparison. This study aimed at comparing the diagnostic accuracy of various deformation and conventional echo parameters in differentiating CA from other hypertrophic substrates, especially in the gray zone of mild hypertrophy (maximum wall thickness ≤16 mm) or normal ejection fraction (EF)...
March 2017: Circulation. Cardiovascular Imaging
https://www.readbyqxmd.com/read/28296032/right-ventricular-remodelling-after-transcatheter-pulmonary-valve-implantation
#14
Efstathios D Pagourelias, Ana M Daraban, Razvan O Mada, Jürgen Duchenne, Oana Mirea, Bjorn Cools, Ruth Heying, Derize Boshoff, Jan Bogaert, Werner Budts, Marc Gewillig, Jens-Uwe Voigt
OBJECTIVES: To define the optimal timing for percutaneous pulmonary valve implantation (PPVI) in patients with severe pulmonary regurgitation (PR) after Fallot's Tetralogy (ToF) correction. BACKGROUND: PPVI among the aforementioned patients is mainly driven by symptoms or by severe right ventricular (RV) dilatation/dysfunction. The optimal timing for PPVI is still disputed. METHODS: Twenty patients [age 13.9 ± 9.2 years, (range 4.3-44...
March 15, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28294390/combined-xil-6r-and-urocortin-2-treatment-restores-mdx-diaphragm-muscle-force
#15
Jennifer Manning, Maria M Buckley, Ken D O'Halloran, Dervla O'Malley
Introduction Duchenne muscular dystrophy (DMD) is characterized by progressive muscle degeneration leading to immobility, respiratory failure and premature death. As chronic inflammation and stress are implicated in DMD pathology, the efficacy of an anti-inflammatory and anti-stress intervention strategy in ameliorating diaphragm dysfunction was investigated. Methods Diaphragm muscle contractile function was compared in wild-type and dystrophin-deficient mdx mice treated with saline, anti-IL-6R antibodies (xIL-6R), the corticotrophin-releasing factor receptor 2 (CRFR2) agonist, urocortin 2 or both xIL-6R and urocortin 2...
March 13, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28288529/a-comparison-of-swallowing-dysfunction-in-becker-muscular-dystrophy-and-duchenne-muscular-dystrophy
#16
Yuka Yamada, Michiyuki Kawakami, Ayako Wada, Tomoyoshi Otsuka, Kaori Muraoka, Meigen Liu
PURPOSE: Swallowing dysfunction has been reported in Duchenne muscular dystrophy (DMD), but has not been studied in Becker muscular dystrophy (BMD). The aims of this study were to report the characteristics of swallowing dysfunction in BMD compared with DMD. MATERIALS AND METHODS: The study participants were 18 patients with BMD and 18 patients with DMD. All the patients were examined using videofluorography during swallowing of 5 mL of fluid. The penetration-aspiration scale (P-A scale) and the videofluorographic dysphagia scale (VDS) were used to evaluate dysphagia...
March 13, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28288228/-upper-limb-functional-assessment-scale-for-children-with-duchenne-muscular-dystrophy-and-spinal-muscular-atrophy
#17
Raúl G Escobar, Nayadet Lucero, Carmen Solares, Victoria Espinoza, Odalie Moscoso, Polín Olguín, Karin T Muñoz, Ricardo Rosas
Duchenne muscular dystrophy (DMD) and Spinal muscular atrophy (SMA) causes significant disability and progressive functional impairment. Readily available instruments that assess functionality, especially in advanced stages of the disease, are required to monitor the progress of the disease and the impact of therapeutic interventions. OBJECTIVE: To describe the development of a scale to evaluate upper limb function (UL) in patients with DMD and SMA, and describe its validation process, which includes self-training for evaluators...
February 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28284874/corrigendum-to-categorizing-natural-history-trajectories-of-ambulatory-function-measured-by-the-6-minute-walk-distance-in-patients-with-duchenne-muscular-dystrophy-neuromuscular-disorders-26-9-2016-576-583
#18
Eugenio Mercuri, James Edward Signorovitch, Elyse Swallow, Jinlin Song, Susan J Ward
No abstract text is available yet for this article.
March 8, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28281577/potent-pro-inflammatory-and-pro-fibrotic-molecules-osteopontin-and-galectin-3-are-not-major-disease-modulators-of-laminin-%C3%AE-2-chain-deficient-muscular-dystrophy
#19
Kinga I Gawlik, Johan Holmberg, Martina Svensson, Mikaela Einerborg, Bernardo M S Oliveira, Tomas Deierborg, Madeleine Durbeej
A large number of human diseases are caused by chronic tissue injury with fibrosis potentially leading to organ failure. There is a need for more effective anti-fibrotic therapies. Congenital muscular dystrophy type 1A (MDC1A) is a devastating form of muscular dystrophy caused by laminin α2 chain-deficiency. It is characterized with early inflammation and build-up of fibrotic lesions, both in patients and MDC1A mouse models (e.g. dy(3K)/dy(3K)). Despite the enormous impact of inflammation on tissue remodelling in disease, the inflammatory response in MDC1A has been poorly described...
March 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28280301/eteplirsen-in-the-treatment-of-duchenne-muscular-dystrophy
#20
REVIEW
Kenji Rowel Q Lim, Rika Maruyama, Toshifumi Yokota
Duchenne muscular dystrophy is a fatal neuromuscular disorder affecting around one in 3,500-5,000 male births that is characterized by progressive muscular deterioration. It is inherited in an X-linked recessive fashion and is caused by loss-of-function mutations in the DMD gene coding for dystrophin, a cytoskeletal protein that stabilizes the plasma membrane of muscle fibers. In September 2016, the US Food and Drug Administration granted accelerated approval for eteplirsen (or Exondys 51), a drug that acts to promote dystrophin production by restoring the translational reading frame of DMD through specific skipping of exon 51 in defective gene variants...
2017: Drug Design, Development and Therapy
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