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https://www.readbyqxmd.com/read/28318817/clinical-and-mutational-characteristics-of-duchenne-muscular-dystrophy-patients-based-on-a-comprehensive-database-in-south-china
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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/28294390/combined-xil-6r-and-urocortin-2-treatment-restores-mdx-diaphragm-muscle-force
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28279570/the-100-meter-timed-test-normative-data-in-healthy-males-and-comparative-pilot-outcome-data-for-use-in-duchenne-muscular-dystrophy-clinical-trials
#14
Lindsay N Alfano, Natalie F Miller, Katherine M Berry, Han Yin, Kimberly E Rolf, Kevin M Flanigan, Jerry R Mendell, Linda P Lowes
Timed walking tests are often used to measure function in boys with Duchenne muscular dystrophy (DMD). Our objective was to evaluate the 100 meter timed test (100m), a fixed distance test of maximal performance, for use in DMD. To this end, we sought to establish normative 100m performance in healthy controls, compare DMD performance to controls, and evaluate the reliability of 100m. Seventy-two boys with DMD (18 steroid-naïve, 54 on steroids) and 599 controls (4-14 years) completed the 100m as speedily as possible on a 25-meter track...
February 17, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28274975/deflazacort-approved-for-duchenne-muscular-dystrophy
#15
Kate Traynor
No abstract text is available yet for this article.
March 15, 2017: American Journal of Health-system Pharmacy: AJHP
https://www.readbyqxmd.com/read/28272972/a-feasibility-study-using-solution-focused-coaching-for-health-promotion-in-children-and-young-people-with-duchenne-muscular-dystrophy
#16
Amy C McPherson, Laura McAdam, Sarah Keenan, Heidi Schwellnus, Elaine Biddiss, Andrea DeFinney, Kirsten English
PURPOSE: To evaluate the feasibility and acceptability of a coaching intervention (Solution-Focused Coaching in pediatric rehabilitation [SFC-Peds]) related to physical activity and diet in males with Duchenne muscular dystrophy. METHODS: A pre-post design was employed. Participants had five coaching sessions over 8 weeks. The first session was face-to-face, followed by four virtual sessions. Feasibility criteria included recruitment rates, attrition, and intervention fidelity...
March 8, 2017: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/28269793/proton-magnetic-resonance-spectroscopy-indicates-preserved-cerebral-biochemical-composition-in-duchenne-muscular-dystrophy-patients
#17
Nathalie Doorenweerd, Melissa Hooijmans, Stephanie A Schubert, Andrew G Webb, Chiara S M Straathof, Erik W van Zwet, Mark A van Buchem, Jan J G M Verschuuren, Jos G M Hendriksen, Erik H Niks, Hermien E Kan
BACKGROUND: Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin. DMD is associated with specific learning and behavioural disabilities. In the brain, dystrophin is associated with GABAA receptors and aquaporin-4 in neurons and astrocytes, respectively, but little is known about its function. OBJECTIVE AND METHODS: In this study we aimed to compare the biochemical composition between patients and healthy controls in brain regions that are naturally rich in dystrophin using magnetic resonance spectroscopy...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269790/cardiac-involvement-classification-and-therapeutic-management-in-patients-with-duchenne-muscular-dystrophy
#18
Abdallah Fayssoil, Soumeth Abasse, Katy Silverston
Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. The clinical picture included peripheral muscle weakness, cardiomyopathy and chronic respiratory insufficiency. In this paper, the authors review cardiac involvement in patients with DMD, propose a cardiac impairment classification and discuss therapeutic management options.
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269180/localized-mri-and-histological-image-correlation-in-a-canine-model-of-duchenne-muscular-dystrophy
#19
A Eresen, S McConnell, S M Birch, J F Griffin, J N Kornegay, J X Ji
Duchenne Muscular Dystrophy (DMD) is a fatal X-linked disorder. Therapeutic assessments currently require muscle biopsy to ascertain information about the status of disease progression. MRI shows potential to be used in place of muscle biopsy for therapeutic assessments. In this work, localized histological data and various MRI parameters were correlated in a canine model of DMD. The results indicate several MRI parameters may be useful as biomarkers of disease progression.
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28262469/diagnosis-of-duchenne-muscular-dystrophy-in-italy-in-the-last-decade-critical-issues-and-areas-for-improvements
#20
Adele D'Amico, Michela Catteruccia, Giovanni Baranello, Luisa Politano, Alessandra Govoni, Stefano Carlo Previtali, Marika Pane, Maria Grazia D'Angelo, Claudio Bruno, Sonia Messina, Federica Ricci, Elena Pegoraro, Antonella Pini, Angela Berardinelli, Ksenjia Gorni, Roberta Battini, Gianluca Vita, Federica Trucco, Marianna Scutifero, Roberta Petillo, Paola D'Ambrosio, Anna Ardissone, Barbara Pasanisi, Giuseppe Vita, Tiziana Mongini, Maurizio Moggio, Giacomo Pietro Comi, Eugenio Mercuri, Enrico Bertini
Despite all the advances in diagnosis and management of Duchenne muscular dystrophy over the past 50 years, the average age at diagnosis in most countries in the world around is still around 4-5 years. This retrospective study investigates the age at diagnosis in Italy in the past 10 years. We report findings from 384 boys who were diagnosed with DMD from 2005 to 2014. The mean age at first medical contact, which raised the suspicion of DMD, was 31 months. The mean age at diagnosis was 41 months. The finding that more frequently brought to suspect a DMD was the incidental finding of consistent elevated creatine kinase serum level detected during routine assessments in children undergoing general anesthesia or with intercurrent illness...
February 14, 2017: Neuromuscular Disorders: NMD
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