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https://www.readbyqxmd.com/read/28228973/duchenne-regulatory-science-consortium-meeting-on-disease-progression-modeling-for-duchenne-muscular-dystrophy
#1
Jane Larkindale, Richard Abresch, Enrique Aviles, Abby Bronson, Janice Chin, Pat Furlong, Heather Gordish-Dressman, Elizabeth Habeeb-Louks, Erik Henricson, Hans Kroger, Charles Lynn, Stephen Lynn, Dana Martin, Glen Nuckolls, William Rooney, Klaus Romero, Lee Sweeney, Krista Vandenborne, Glenn Walter, Jodi Wolff, Brenda Wong, Craig M McDonald, Members Of The Duchenne Regulatory Science Consortium Imaging-Dmd Consortium And The Cinrg Investigators
The Duchenne Regulatory Science Consortium (D-RSC) was established to develop tools to accelerate drug development for DMD.  The resulting tools are anticipated to meet validity requirements outlined by qualification/endorsement pathways at both the U.S. Food and Drug Administration (FDA) and European Medicines Administration (EMA), and will be made available to the drug development community. The initial goals of the consortium include the development of a disease progression model, with the goal of creating a model that would be used to forecast changes in clinically meaningful endpoints, which would inform clinical trial protocol development and data analysis...
January 12, 2017: PLoS Currents
https://www.readbyqxmd.com/read/28227410/localized-mri-and-histological-image-correlation-in-a-canine-model-of-duchenne-muscular-dystrophy
#2
A Eresen, S McConnell, S M Birch, J F Griffin, J N Kornegay, J X Ji, A Eresen, S McConnell, S M Birch, J F Griffin, J N Kornegay, J X Ji, J X Ji, J F Griffin, S McConnell, S M Birch, A Eresen, J N Kornegay
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/28227116/force-controlled-ultrasound-to-measure-passive-mechanical-properties-of-muscle-in-duchenne-muscular-dystrophy
#3
Anne J Pigula, Jim S Wu, Matthew W Gilbertson, Basil T Darras, Seward B Rutkove, Brian W Anthony, Anne J Pigula, Jim S Wu, Matthew W Gilbertson, Basil T Darras, Seward B Rutkove, Brian W Anthony, Anne J Pigula, Brian W Anthony, Seward B Rutkove, Basil T Darras, Jim S Wu, Matthew W Gilbertson
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/28224104/exertional-rhabdomyolysis-and-heat-stroke-beware-of-volatile-anesthetic-sedation
#4
REVIEW
Karel Heytens, Jan De Bleecker, Walter Verbrugghe, Jonathan Baets, Luc Heytens
In view of the enormous popularity of mass sporting events such as half-marathons, the number of patients with exertional rhabdomyolysis or exercise-induced heat stroke admitted to intensive care units (ICUs) has increased over the last decade. Because these patients have been reported to be at risk for malignant hyperthermia during general anesthesia, the intensive care community should bear in mind that the same risk of life-threatening rhabdomyolysis is present when these patients are admitted to an ICU, and volatile anesthetic sedation is chosen as the sedative technique...
February 4, 2017: World Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/28219442/eplerenone-for-early-cardiomyopathy-in-duchenne-muscular-dystrophy-results-of-a-two-year-open-label-extension-trial
#5
Subha V Raman, Kan N Hor, Wojciech Mazur, Xin He, John T Kissel, Suzanne Smart, Beth McCarthy, Sharon L Roble, Linda H Cripe
BACKGROUND: Cardiomyopathy is a leading cause of morbidity and mortality in boys with Duchenne muscular dystrophy (DMD). We recently showed in a 12-month double-blind randomized controlled trial that adding eplerenone to background medical therapy was cardioprotective in this population. The objective of this study was to evaluate the safety and efficacy of longer-term eplerenone therapy in boys with DMD. RESULTS: Eleven subjects (phase 1 baseline median [range] age: 13 [7 - 25] years) from the original 12-month trial at a single participating center were enrolled...
February 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28219397/immunohistochemistry-of-sarcolemmal-membrane-associated-proteins-in-formalin-fixed-and-paraffin-embedded-skeletal-muscle-tissue-a-promising-tool-for-the-diagnostic-evaluation-of-common-muscular-dystrophies
#6
Chinnawut Suriyonplengsaeng, Charungthai Dejthevaporn, Chaiyos Khongkhatithum, Suda Sanpapant, Nattha Tubthong, Koset Pinpradap, Nippa Srinark, Jariya Waisayarat
BACKGROUND: The analysis of fresh frozen muscle specimens is standard following routine muscle biopsy, but this service is not widely available in countries with limited medical facilities, such as Thailand. Nevertheless, immunohistochemistry (IHC) analysis is essential for the diagnosis of patients with a strong clinical suspicion of muscular dystrophy, in the absence of mutations detected by molecular genetics. As the successful labelling of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded (FFPE) muscle sections using IHC staining has rarely been described, this study aimed to develop a reproducible IHC method for such an analysis...
February 20, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28214339/turner-syndrome-and-duchenne-muscular-dystrophy
#7
Sumit Verma, Parul Goyal, Charlotte Beam, Durga Shah
No abstract text is available yet for this article.
February 18, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28209627/characterization-of-a-blood-spot-creatine-kinase-skeletal-muscle-isoform-immunoassay-for-high-throughput-newborn-screening-of-duchenne-muscular-dystrophy
#8
Stuart J Moat, Teemu Korpimäki, Petra Furu, Harri Hakala, Hanna Polari, Liisa Meriö, Pauliina Mäkinen, Ian Weeks
BACKGROUND: Duchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder with an average worldwide incidence of 1:5000. Blood spot creatine kinase (CK) enzyme assays previously used in newborn screening programs for DMD are nonspecific because measured CK enzyme activity is attributable to 3 isoenzyme forms of CK (CK-MM, CK-MB, and CK-BB) and it is the CK-MM isoform that is found predominantly in skeletal muscle. CK-MM is increased in boys with DMD owing to muscle damage...
February 16, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28208626/2-o-methyl-rna-ethylene-bridged-nucleic-acid-chimera-antisense-oligonucleotides-to-induce-dystrophin-exon-45-skipping
#9
REVIEW
Tomoko Lee, Hiroyuki Awano, Mariko Yagi, Masaaki Matsumoto, Nobuaki Watanabe, Ryoya Goda, Makoto Koizumi, Yasuhiro Takeshima, Masafumi Matsuo
Duchenne muscular dystrophy (DMD) is a fatal muscle-wasting disease characterized by dystrophin deficiency from mutations in the dystrophin gene. Antisense oligonucleotide (AO)-mediated exon skipping targets restoration of the dystrophin reading frame to allow production of an internally deleted dystrophin protein with functional benefit for DMD patients who have out-of-frame deletions. After accelerated US approval of eteplirsen (Exondys 51), which targets dystrophin exon 51 for skipping, efforts are now focused on targeting other exons...
February 10, 2017: Genes
https://www.readbyqxmd.com/read/28195574/muscle-specific-crispr-cas9-dystrophin-gene-editing-ameliorates-pathophysiology-in-a-mouse-model-for-duchenne-muscular-dystrophy
#10
Niclas E Bengtsson, John K Hall, Guy L Odom, Michael P Phelps, Colin R Andrus, R David Hawkins, Stephen D Hauschka, Joel R Chamberlain, Jeffrey S Chamberlain
Gene replacement therapies utilizing adeno-associated viral (AAV) vectors hold great promise for treating Duchenne muscular dystrophy (DMD). A related approach uses AAV vectors to edit specific regions of the DMD gene using CRISPR/Cas9. Here we develop multiple approaches for editing the mutation in dystrophic mdx(4cv) mice using single and dual AAV vector delivery of a muscle-specific Cas9 cassette together with single-guide RNA cassettes and, in one approach, a dystrophin homology region to fully correct the mutation...
February 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/28192862/long-term-dietary-quercetin-enrichment-as-a-cardioprotective-countermeasure-in-mdx-mice
#11
Christopher Ballmann, Thomas Denney, Ronald J Beyers, Tiffany Quindry, Matthew Romero, Joshua T Selsby, John C Quindry
Duchenne Muscular Dystrophy (DMD) causes declines in cardiac health resulting in premature mortality. As a potential countermeasure, quercetin is a polyphenol possessing inherent anti-inflammatory and antioxidant effects that activate proliferator-activated γ coactivator 1α (PGC-1α) increasing mitochondrial biogenesis protein abundance. We investigated the extent to which lifelong 0.2% dietary quercetin enrichment attenuates dystrophic cardiopathology in mdx mice. Dystrophic animals were fed quercetin or control diet for 12 months while control C57 mice were fed a control diet...
February 13, 2017: Experimental Physiology
https://www.readbyqxmd.com/read/28188344/skeletal-muscle-secretome-in-duchenne-muscular-dystrophy-a-pivotal-anti-inflammatory-role-of-adiponectin
#12
S Lecompte, M Abou-Samra, R Boursereau, L Noel, S M Brichard
BACKGROUND: Persistent inflammation exacerbates the progression of Duchenne muscular dystrophy (DMD). The hormone, adiponectin (ApN), which is decreased in the metabolic syndrome, exhibits anti-inflammatory properties on skeletal muscle and alleviates the dystrophic phenotype of mdx mice. Here, we investigate whether ApN retains its anti-inflammatory action in myotubes obtained from DMD patients. We unravel the underlying mechanisms by studying the secretome and the early events of ApN...
February 10, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28187773/perceived-quality-of-life-among-caregivers-of-children-with-a-childhood-onset-dystrophinopathy-a-double-abcx-model-of-caregiver-stressors-and-perceived-resources
#13
Natalia Frishman, Kristin Caspers Conway, Jennifer Andrews, Jacob Oleson, Katherine Mathews, Emma Ciafaloni, Joyce Oleszek, Molly Lamb, Dennis Matthews, Pangaja Paramsothy, Lowell McKirgan, Paul Romitti
BACKGROUND: Duchenne and Becker muscular dystrophies, collectively referred to as dystrophinopathies, are recessive X-linked disorders characterized by progressive muscle weakness and ultimately cardiac and respiratory failure. Immediate family members are often primary caregivers of individuals with a dystrophinopathy. METHODS: We explored the impact of this role by inviting primary caregivers (n = 209) of males diagnosed with childhood-onset dystrophinopathy who were identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) to complete a mailed questionnaire measuring perceived social support and stress, spirituality, and family quality of life (FQoL)...
February 10, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28181689/prenatal-diagnosis-of-duchenne-muscular-dystrophy-in-131-chinese-families-with-dystrophinopathy
#14
Huanhuan Wang, Yan Xu, Xiaoqing Liu, Lei Wang, Wenting Jiang, Bing Xiao, Wei Wei, Yingwei Chen, Weiping Ye, Xing Ji
OBJECTIVES: To report 6-year clinical prenatal diagnosis experience of Duchenne muscular dystrophy (DMD)-affected families evaluated at a single prenatal diagnosis center in China and establish a reliable and rational prenatal diagnosis procedure for DMD families. METHODS: The prenatal diagnosis data of 146 at-risk pregnancies in 131 DMD families referred to our center from 2010 to 2016 were retrospectively reviewed. RESULTS: The mutation detection rate of the probands was greater than 99%...
February 9, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28175989/predictors-of-health-related-quality-of-life-in-boys-with-duchenne-muscular-dystrophy-from-six-european-countries
#15
Christiane Otto, Birgit F Steffensen, Ann-Lisbeth Højberg, Claus Barkmann, Jes Rahbek, Ulrike Ravens-Sieberer, Annette Mahoney, Julia Vry, Kathrin Gramsch, Rachel Thompson, Sunil Rodger, Kate Bushby, Hanns Lochmüller, Janbernd Kirschner
Duchenne muscular dystrophy (DMD) is a progressive, genetically determined neuromuscular disease that affects males and leads to severe physical disability in early teenage years. Over the last decades, patient-reported outcomes such as Health-Related Quality of Life (HRQoL) gained great interest in clinical research. However, little is known about factors affecting HRQoL in boys with DMD. Data from the multi-center CARE-NMD project of boys with DMD from six European countries collected between 2011 and 2012 were analyzed (8-17 years old; n = 321)...
February 7, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28169120/comparison-of-ambulatory-capacity-and-disease-progression-of-duchenne-muscular-dystrophy-subjects-enrolled-in-the-drisapersen-dmd114673-study-with-a-matched-natural-history-cohort-of-subjects-on-daily-corticosteroids
#16
Nathalie Goemans, Mar Tulinius, Anna-Karin Kroksmark, Rosamund Wilson, Marleen van den Hauwe, Giles Campion
Duchenne muscular dystrophy is a rare genetic disorder with life-limiting pathology. Drisapersen induces exon 51 skipping, thereby producing a shorter but functional dystrophin protein. The longest available data are from an open-label extension study (PRO051-02) treating 12 boys with drisapersen (6 mg/kg/week subcutaneously). The median change (range) from baseline to week 177 in six-minute walking distance (6MWD) was 8 (-263, 163) metres. The current analysis aimed to put the results from PRO051-02 in the context of natural progression by comparing the functional trajectory of drisapersen-treated subjects to a matched natural history (NH) cohort, treated by standard of care...
March 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28161362/ngf-dependent-axon-growth-and-regeneration-are-altered-in-sympathetic-neurons-of-dystrophic-mdx-mice
#17
Loredana Lombardi, Irene Persiconi, Alessandra Gallo, Casper C Hoogenraad, Maria Egle De Stefano
Duchenne muscular dystrophy (DMD) is a lethal disease, determined by lack of dystrophin (Dp427), a muscular cytoskeletal protein also expressed by selected neuronal populations. Consequently, besides muscular wasting, both human patients and DMD animal models suffer several neural disorders. In previous studies on the superior cervical ganglion (SCG) of wild type and dystrophic mdx mice (Lombardi et al. 2008), we hypothesized that Dp427 could play some role in NGF-dependent axonal growth, both during development and adulthood...
February 2, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/28161094/effects-of-duchenne-muscular-dystrophy-on-muscle-stiffness-and-response-to-electrically-induced-muscle-contraction-a-12-month-follow-up
#18
Lilian Lacourpaille, Raphaël Gross, François Hug, Arnaud Guével, Yann Péréon, Armelle Magot, Jean-Yves Hogrel, Antoine Nordez
The present study aimed to assess the ability of muscle stiffness (shear modulus) and response to electrically-induced muscle contraction to detect changes in muscle properties over a 12-month period in children with Duchenne muscular dystrophy (DMD). Ten children with DMD and nine age-matched healthy male controls participated in two experimental sessions (T0 and T+12months) separated by 12.4 ± 0.9 months. Two contractions of the biceps brachii were electrically-induced during which an ultrasound probe was placed over the muscle...
March 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28152980/dmdtoolkit-a-tool-for-visualizing-the-mutated-dystrophin-protein-and-predicting-the-clinical-severity-in-dmd
#19
Jiapeng Zhou, Jing Xin, Yayun Niu, Shiwen Wu
BACKGROUND: Dystrophinopathy is one of the most common human monogenic diseases which results in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Mutations in the dystrophin gene are responsible for both DMD and BMD. However, the clinical phenotypes and treatments are quite different in these two muscular dystrophies. Since early diagnosis and treatment results in better clinical outcome in DMD it is essential to establish accurate early diagnosis of DMD to allow efficient management...
February 2, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28152217/advances-in-the-treatment-of-duchenne-muscular-dystrophy-new-and-emerging-pharmacotherapies
#20
Andrea M Reinig, Sara Mirzaei, Daniel J Berlau
Duchenne muscular dystrophy (DMD) is a genetic, neuromuscular disease that primarily affects young males. Patients with DMD are unable to produce dystrophin, a crucial protein found in myocytes, leading to a loss of muscle support and integrity. Corticosteroids are the standard supportive treatment for DMD; however, there is a high demand to expand the number of safe, effective pharmacological options. Recently there has been a surge of new therapeutics for DMD, offering hope to patients. A variety of these new medications, such as stop codon readthrough agents, exon-skipping agents, and utrophin modulators aim to replace dystrophin in myocytes...
February 2, 2017: Pharmacotherapy
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