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https://www.readbyqxmd.com/read/27908661/uniform-low-level-dystrophin-expression-in-the-heart-partially-preserved-cardiac-function-in-an-aged-mouse-model-of-duchenne-cardiomyopathy
#1
Nalinda B Wasala, Yongping Yue, Jenna Vance, Dongsheng Duan
Dystrophin deficiency results in Duchenne cardiomyopathy, a primary cause of death in Duchenne muscular dystrophy (DMD). Gene therapy has shown great promise in ameliorating the cardiac phenotype in mouse models of DMD. However, it is not completely clear how much dystrophin is required to treat dystrophic heart disease. We and others have shown that mosaic dystrophin expression at the wild-type level, depending on the percentage of dystrophin positive cardiomyocytes, can either delay the onset of or fully prevent cardiomyopathy in dystrophin-null mdx mice...
November 28, 2016: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/27906108/heme-oxygenase-and-carbon-monoxide-protect-from-muscle-dystrophy
#2
Mun Chun Chan, Olivia Ziegler, Laura Liu, Glenn C Rowe, Saumya Das, Leo E Otterbein, Zoltan Arany
BACKGROUND: Duchenne muscle dystrophy (DMD) is one of the most common lethal genetic diseases of children worldwide and is 100% fatal. Steroids, the only therapy currently available, are marred by poor efficacy and a high side-effect profile. New therapeutic approaches are urgently needed. METHODS: Here, we leverage PGC-1α, a powerful transcriptional coactivator known to protect against dystrophy in the mdx murine model of DMD, to search for novel mechanisms of protection against dystrophy...
November 28, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27906064/treatment-with-rgdf11-does-not-improve-the-dystrophic-muscle-pathology-of-mdx-mice
#3
Fabrizio Rinaldi, Yu Zhang, Ricardo Mondragon-Gonzalez, Jeffrey Harvey, Rita C R Perlingeiro
BACKGROUND: Duchenne muscular dystrophy (DMD) is an inherited lethal muscle wasting disease characterized by cycles of degeneration and regeneration, with no effective therapy. Growth differentiation factor 11 (GDF11), a member of the TGF-β superfamily and myostatin homologous, has been reported to have the capacity to reverse age-related skeletal muscle loss. These initial findings led us to investigate the ability of GDF11 to promote regeneration in the context of muscular dystrophy and determine whether it could be a candidate to slow down or reverse the disease progression in DMD...
June 14, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27863231/exon-skipping-therapy
#4
Courtney S Young, April D Pyle
Exondys 51 is the first therapy for Duchenne muscular dystrophy (DMD) to have been granted accelerated approval by the FDA. Approval was granted based on using dystrophin expression as a surrogate marker. Exondys 51 targets DMD exon 51 for skipping to restore the reading frame for 13% of Duchenne patients.
November 17, 2016: Cell
https://www.readbyqxmd.com/read/27859827/elevated-phosphodiester-and-t2-levels-can-be-measured-in-the-absence-of-fat-infiltration-in-duchenne-muscular-dystrophy-patients
#5
M T Hooijmans, E H Niks, J Burakiewicz, J J G M Verschuuren, A G Webb, H E Kan
Quantitative MRI and MRS are increasingly important as non-invasive outcome measures in therapy development for Duchenne muscular dystrophy (DMD). Many studies have focussed on individual measures such as fat fraction and metabolite levels in relation to age and functionality, but much less attention has been given to how these indices relate to each other. Here, we assessed spatially resolved metabolic changes in leg muscles of DMD patients, and classified muscles according to the degree of fat replacement compared with healthy controls...
November 17, 2016: NMR in Biomedicine
https://www.readbyqxmd.com/read/27854202/current-translational-research-and-murine-models-for-duchenne-muscular-dystrophy
#6
Merryl Rodrigues, Yusuke Echigoya, So-Ichiro Fukada, Toshifumi Yokota
Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder characterized by progressive muscle degeneration. Mutations in the DMD gene result in the absence of dystrophin, a protein required for muscle strength and stability. Currently, there is no cure for DMD. Since murine models are relatively easy to genetically manipulate, cost effective, and easily reproducible due to their short generation time, they have helped to elucidate the pathobiology of dystrophin deficiency and to assess therapies for treating DMD...
March 3, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27847715/analysis-of-pulmonary-function-test-in-korean-patients-with-duchenne-muscular-dystrophy-comparison-of-foreign-and-korean-reference-data
#7
Tae Sik Bang, Woo Hyuk Choi, Sang Hun Kim, Je-Sang Lee, Soo-Yeon Kim, Myung Jun Shin, Yong Beom Shin
OBJECTIVE: To determine the abnormal pulmonary function value in Korean Duchenne muscular dystrophy (DMD) patients, we performed a comparative analysis of the patients' pulmonary function value expressed as % of the overseas reference data and Korean healthy children and adolescent reference data. METHODS: We performed pulmonary function test (PFT) in a total of 27 DMD patients. We compared the patients' FVC% and FEV1% of the overseas reference data with those of the Korean children and adolescent reference data...
October 2016: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/27815032/pharmacological-therapy-for-the-prevention-and-management-of-cardiomyopathy-in-duchenne-muscular-dystrophy-a-systematic-review
#8
Basmah El-Aloul, Luis Altamirano-Diaz, Eugenio Zapata-Aldana, Rebecca Rodrigues, Monali S Malvankar-Mehta, Cam-Tu Nguyen, Craig Campbell
Cardiomyopathy is a major source of morbidity and mortality in Duchenne muscular dystrophy (DMD) patients now that respiratory care has improved. There is currently no definitive evidence guiding the management of DMD-associated cardiomyopathy (DMD-CM). The objective of this systematic review was to evaluate the effectiveness of pharmacotherapies for the prevention and/or management of DMD-CM and to determine the optimal timing to commence these interventions. A systematic search was conducted in January 2016 using MEDLINE, EMBASE and CINAHL databases and grey literature sources for studies evaluating the use of angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers, beta-blockers or aldosterone antagonists...
October 11, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27788681/native-t1-values-identify-myocardial-changes-and-stratify-disease-severity-in-patients-with-duchenne-muscular-dystrophy
#9
Laura J Olivieri, Peter Kellman, Robert J McCarter, Russell R Cross, Michael S Hansen, Christopher F Spurney
BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked, inherited disorder causing dilated cardiomyopathy with variable onset and progression. Currently we lack objective markers of the effect of therapies targeted towards preventing progression of subclinical cardiac disease. Thus, our aim was to compare the ability of native T1 and extracellular volume (ECV) measurements to differentiate risk of myocardial disease in DMD and controls. METHODS: Twenty boys with DMD and 16 age/gender-matched controls without history predisposing to cardiac fibrosis, but with a clinical indication for cardiovascular magnetic resonance (CMR) evaluation, underwent CMR with contrast...
October 28, 2016: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/27774565/the-time-to-and-determinants-of-first-fractures-in-boys-with-duchenne-muscular-dystrophy
#10
J Ma, H J McMillan, G Karagüzel, C Goodin, J Wasson, M A Matzinger, P DesClouds, D Cram, M Page, V N Konji, B Lentle, L M Ward
: Boys with vertebral fractures (VF) identified through routine spine radiographs had milder, less symptomatic, and fewer VF compared to those diagnosed with VF following consultation for back pain. Spontaneous (i.e., medication-unassisted) reshaping of fractured vertebral bodies was absent. Long bone fractures were present even before Duchenne muscular dystrophy (DMD) diagnosis in some boys. INTRODUCTION: The objective of the study was to determine the time to and characteristics of first fractures in Duchenne muscular dystrophy...
October 24, 2016: Osteoporosis International
https://www.readbyqxmd.com/read/27762666/different-donors-mesenchymal-stromal-cells-secretomes-reveal-heterogeneous-profile-of-relevance-for-therapeutic-use
#11
Amanda Faria Assoni, Giuliana Castello, Marcos Valadares, Melinda Beccari, Juliana Gomes, Mayra Pelatti, Miguel Mitne-Neto, Valdemir Melechco Carvalho, Mayana Zatz
Duchenne muscular dystrophy (DMD) is a lethal X-linked disorder caused by null mutations in the dystrophin gene. Although the primary defect is the deficiency of muscle dystrophin, secondary events, including chronic inflammation, fibrosis and muscle regeneration failure are thought to actively contribute to disease progression. Despite several advances, there is still no effective therapy for DMD. Therefore, the potential regenerative capacities, as well as immune-privileged properties of Mesenchymal Stromal Cells (MSCs), have been the focus of intense investigation in different animal models aiming the treatment of these disorders...
October 20, 2016: Stem Cells and Development
https://www.readbyqxmd.com/read/27735844/porcine-zygote-injection-with-cas9-sgrna-results-in-dmd-modified-pig-with-muscle-dystrophy
#12
Hong-Hao Yu, Heng Zhao, Yu-Bo Qing, Wei-Rong Pan, Bao-Yu Jia, Hong-Ye Zhao, Xing-Xu Huang, Hong-Jiang Wei
Dystrophinopathy, including Duchenne muscle dystrophy (DMD) and Becker muscle dystrophy (BMD) is an incurable X-linked hereditary muscle dystrophy caused by a mutation in the DMD gene in coding dystrophin. Advances in further understanding DMD/BMD for therapy are expected. Studies on mdx mice and dogs with muscle dystrophy provide limited insight into DMD disease mechanisms and therapeutic testing because of the different pathological manifestations. Miniature pigs share similar physiology and anatomy with humans and are thus an excellent animal model of human disease...
October 9, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27733450/new-function-of-the-myostatin-activin-type-i-receptor-alk4-as-a-mediator-of-muscle-atrophy-and-muscle-regeneration
#13
Svitlana Pasteuning-Vuhman, Johanna Boertje-van der Meulen, Maaike van Putten, Maurice Overzier, Peter Ten Dijke, Szymon M Kiełbasa, Wibowo Arindrarto, Ron Wolterbeek, Ksenia V Lezhnina, Ivan V Ozerov, Aleksandr M Aliper, Willem M Hoogaars, Annemieke Aartsma-Rus, Cindy J M Loomans
Skeletal muscle fibrosis and impaired muscle regeneration are major contributors to muscle wasting in Duchenne muscular dystrophy (DMD). Muscle growth is negatively regulated by myostatin (MSTN) and activins. Blockage of these pathways may improve muscle quality and function in DMD. Antisense oligonucleotides (AONs) were designed specifically to block the function of ALK4, a key receptor for the MSTN/activin pathway in skeletal muscle. AON-induced exon skipping resulted in specific Alk4 down-regulation, inhibition of MSTN activity, and increased myoblast differentiation in vitro Unexpectedly, a marked decrease in muscle mass (10%) was found after Alk4 AON treatment in mdx mice...
October 12, 2016: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/27677016/muscle-activations-during-gait-in-children-with-duchenne-muscular-dystrophy
#14
Juliette Ropars, Mathieu Lempereur, Sylvain Brochard, Carole Vuillerot, Vincent Tiffreau, Jean-Marie Cuisset, Yann Péréon, Fabien Leboeuf, Raphaël Gross, Ludovic Delporte, Yannick Delpierre
OBJECTIVE: The aim of this prospective study was to investigate changes in muscle activity during gait in children with Duchenne muscular Dystrophy (DMD). MATERIALS/PATIENTS AND METHODS: Dynamic surface electromyography recordings (EMGs) of 16 children with DMD and pathological gait were compared with those of 15 control children. The activity of the rectus femoris (RF), vastus lateralis (VL), medial hamstrings (HS), tibialis anterior (TA) and gastrocnemius soleus (GAS) muscles was recorded and analyzed quantitatively and qualitatively...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27677014/2005-2015-ten-years-clinical-experience-in-treating-dmd-patients-by-corticosteroids-in-lyon
#15
Stéphanie Fontaine Carbonnel, Pascal Rippert, Isabelle Poirot, Dominique Gachet, Capucine de Lattre, Carole Vuillerot
OBJECTIVE: Since 2005, in France, corticosteroid therapy is now widely used in Duchenne muscular dystrophy (DMD). This treatment has changed our practice of pediatric rehabilitation teams. We describe here our 10-year clinical experience in treating DMD patients by CS according to international guidelines i.e. prednisone 0.75mg/kg/day started from the plateau of motor function. MATERIALS/PATIENTS AND METHODS: We conducted a prospective study. Information was given on the expected effects and side effects...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27649492/upper-limb-evaluation-in-duchenne-muscular-dystrophy-fat-water-quantification-by-mri-muscle-force-and-function-define-endpoints-for-clinical-trials
#16
Valeria Ricotti, Matthew R B Evans, Christopher D J Sinclair, Jordan W Butler, Deborah A Ridout, Jean-Yves Hogrel, Ahmed Emira, Jasper M Morrow, Mary M Reilly, Michael G Hanna, Robert L Janiczek, Paul M Matthews, Tarek A Yousry, Francesco Muntoni, John S Thornton
OBJECTIVE: A number of promising experimental therapies for Duchenne muscular dystrophy (DMD) are emerging. Clinical trials currently rely on invasive biopsies or motivation-dependent functional tests to assess outcome. Quantitative muscle magnetic resonance imaging (MRI) could offer a valuable alternative and permit inclusion of non-ambulant DMD subjects. The aims of our study were to explore the responsiveness of upper-limb MRI muscle-fat measurement as a non-invasive objective endpoint for clinical trials in non-ambulant DMD, and to investigate the relationship of these MRI measures to those of muscle force and function...
2016: PloS One
https://www.readbyqxmd.com/read/27649378/patient-centered-benefit-risk-assessment-in-duchenne-muscular-dystrophy
#17
Ilene L Hollin, Holly Peay, Susan D Apkon, John Bridges
Objective This study quantifies caregiver and patient preferences for a therapeutic agent with demonstrated pulmonary benefits for Duchenne muscular dystrophy (DMD). Caregivers and patient differences are also explored. Methods A best-worst scaling survey (BWS) was administered to caregivers and patients. Across 9 profiles, respondents selected the best and worst attributes. Utility scores were estimated using mixed logistic regression. Results Respondents indicated greatest preference for therapies that maintain their current level of cough strength for 10 years or for 2 years...
September 20, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27622734/muscle-activation-during-gait-in-children-with-duchenne-muscular-dystrophy
#18
Juliette Ropars, Mathieu Lempereur, Carole Vuillerot, Vincent Tiffreau, Sylviane Peudenier, Jean-Marie Cuisset, Yann Pereon, Fabien Leboeuf, Ludovic Delporte, Yannick Delpierre, Raphaël Gross, Sylvain Brochard
The aim of this prospective study was to investigate changes in muscle activity during gait in children with Duchenne muscular Dystrophy (DMD). Dynamic surface electromyography recordings (EMGs) of 16 children with DMD and pathological gait were compared with those of 15 control children. The activity of the rectus femoris (RF), vastus lateralis (VL), medial hamstrings (HS), tibialis anterior (TA) and gastrocnemius soleus (GAS) muscles was recorded and analysed quantitatively and qualitatively. The overall muscle activity in the children with DMD was significantly different from that of the control group...
2016: PloS One
https://www.readbyqxmd.com/read/27621596/anti-inflammatory-drugs-for-duchenne-muscular-dystrophy-focus-on-skeletal-muscle-releasing-factors
#19
REVIEW
Shouta Miyatake, Yuko Shimizu-Motohashi, Shin'ichi Takeda, Yoshitsugu Aoki
Duchenne muscular dystrophy (DMD), an incurable and a progressive muscle wasting disease, is caused by the absence of dystrophin protein, leading to recurrent muscle fiber damage during contraction. The inflammatory response to fiber damage is a compelling candidate mechanism for disease exacerbation. The only established pharmacological treatment for DMD is corticosteroids to suppress muscle inflammation, however this treatment is limited by its insufficient therapeutic efficacy and considerable side effects...
2016: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/27616544/becker-muscular-dystrophy-due-to-an-intronic-splicing-mutation-inducing-a-dual-dystrophin-transcript
#20
Alice Todeschini, Francesca Gualandi, Cecilia Trabanelli, Annarita Armaroli, Anna Ravani, Marina Fanin, Silvia Rota, Luca Bello, Alessandra Ferlini, Elena Pegoraro, Alessandro Padovani, Massimiliano Filosto
We describe a 29-year-old patient who complained of left thigh muscle weakness since he was 23 and of moderate proximal weakness of both lower limbs with difficulty in climbing stairs and running since he was 27. Mild weakness of iliopsoas and quadriceps muscles and muscle atrophy of both the distal forearm and thigh were observed upon clinical examination. He harboured a novel c.1150-3C>G substitution in the DMD gene, affecting the intron 10 acceptor splice site and causing exon 11 skipping and an out-of-frame transcript...
October 2016: Neuromuscular Disorders: NMD
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