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https://www.readbyqxmd.com/read/29786157/the-antioxidants-neopterin-7-8-dihydroneopterin-novel-biomarker-and-muscle-protectant-in-duchenne-muscular-dystrophy
#1
Peter J Houweling
No abstract text is available yet for this article.
May 22, 2018: Experimental Physiology
https://www.readbyqxmd.com/read/29786150/stem-cells-blood-vessels-and-angiogenesis-as-major-determinants-for-musculoskeletal-tissue-repair
#2
Johnny Huard
This manuscript summarizes 20 years of research from my laboratories at the University of Pittsburgh and, more recently, at the University of Texas Health Science Center at Houston and the Steadman Philippon Research Institute in Vail, Colorado. The discovery of muscle-derived stem cells (MDSCs) did not arise from a deliberate search to find a novel population of muscle cells with high regenerative potential, but instead was conceived in response to setbacks encountered while working in muscle cell transplantation for Duchenne muscular dystrophy (DMD)...
May 22, 2018: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/29783118/placenta-derived-mesenchymal-stromal-cells-and-their-exosomes-exert-therapeutic-effects-in-duchenne-muscular-dystrophy
#3
Ariel Bier, Peter Berenstein, Noam Kronfeld, Daria Morgoulis, Amotz Ziv-Av, Hodaya Goldstein, Gila Kazimirsky, Simona Cazacu, Rinat Meir, Rachela Popovtzer, Amir Dori, Chaya Brodie
Duchenne muscular dystrophy (DMD) is a degenerative lethal, X-linked disease of skeletal and cardiac muscles caused by mutations in the dystrophin gene. Cell therapy using different cell types, including mesenchymal stromal cells (MSCs), has been considered as a potential approach for the treatment of DMD. MSCs can be obtained from autologous sources such as bone marrow and adipose tissues or from allogeneic placenta and umbilical cord. The safety and therapeutic impact of these cells has been demonstrated in pre-clinical and clinical studies and their functions are attributed to paracrine effects that are mediated by secreted cytokines and extracellular vesicles...
May 3, 2018: Biomaterials
https://www.readbyqxmd.com/read/29783100/cd133-cells-derived-from-skeletal-muscles-of-duchenne-muscular-dystrophy-patients-have-a-compromised-myogenic-and-muscle-regenerative-capability
#4
Jinhong Meng, Francesco Muntoni, Jennifer Morgan
Cell-mediated gene therapy is a possible means to treat muscular dystrophies like Duchenne muscular dystrophy. Autologous patient stem cells can be genetically-corrected and transplanted back into the patient, without causing immunorejection problems. Regenerated muscle fibres derived from these cells will express the missing dystrophin protein, thus improving muscle function. CD133+ cells derived from normal human skeletal muscle contribute to regenerated muscle fibres and form muscle stem cells after their intra-muscular transplantation into an immunodeficient mouse model...
May 12, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29781327/the-progress-of-aav-mediated-gene-therapy-in-neuromuscular-disorders
#5
Sara Aguti, Alberto Malerba, Haiyan Zhou
The well-defined genetic causes and monogenetic nature of many neuromuscular disorders, including Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), present gene therapy as a prominent therapeutic approach. The novel variants of adeno-associated virus (AAV) can achieve satisfactory transduction efficiency of exogenous genes through the central nervous system and body-wide in skeletal muscle. Areas covered: In this review, we summarize the strategies of AAV gene therapy that are currently under preclinical and clinical evaluation for the treatment of degenerative neuromuscular disorders, with a focus on diseases such as DMD and SMA...
May 20, 2018: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29779439/descriptive-phenotype-of-obsessive-compulsive-symptoms-in-males-with-duchenne-muscular-dystrophy
#6
Angela J Lee, Edward T Buckingham, Aaron J Kauer, Katherine D Mathews
Increased rates of clinically significant internalizing disorders (obsessive compulsive disorder, anxiety, and depression) have been demonstrated in males with Duchenne muscular dystrophy, and a Duchenne muscular dystrophy neuropsychiatric syndrome has been suggested. Although symptoms of depression are widely recognized, some of the other internalizing symptoms are less frequently identified. Through a retrospective chart review of 107 males with Duchenne muscular dystrophy, we identified 15 patients with obsessive compulsive disorder spectrum symptoms; 11 of those also had anxiety symptoms...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29776718/high-urinary-ferritin-reflects-myoglobin-iron-evacuation-in-dmd-patients
#7
Jérémy Rouillon, Thibaud Lefebvre, Jérôme Denard, Vincent Puy, Raed Daher, Jérôme Ausseil, Aleksandar Zocevic, Paul Fogel, Katell Peoc'h, Brenda Wong, Laurent Servais, Thomas Voit, Herve Puy, Zoubida Karim, Fedor Svinartchouk
Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the dystrophin gene leading to the absence of the normal dystrophin protein. The efforts of many laboratories brought new treatments of DMD to the reality, but ongoing and forthcoming clinical trials suffer from absence of valuable biomarkers permitting to follow the outcome of the treatment day by day and to adjust the treatment if needed. In the present study the levels of 128 urinary proteins including growth factors, cytokines and chemokines were compared in urine of DMD patients and age related control subjects by antibody array approach...
March 20, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29774991/aggregate-mesenchymal-stem-cell-delivery-ameliorates-the-regenerative-niche-for-muscle-repair
#8
Marissa A Ruehle, Hazel Y Stevens, Aaron M Beedle, Robert E Guldberg, Jarrod A Call
Duchenne muscular dystrophy (DMD) is a severe muscle wasting disease due to the absence of the dystrophin protein from the muscle cell membrane which renders the muscle susceptible to continuous damage. In DMD patients, muscle weakness, together with cycles of degeneration/regeneration and replacement with non-contractile tissue, limit mobility and lifespan. Since the loss of dystrophin result in loss of polarity and a reduction in the number of self-renewing satellite cells, it is postulated that these patients could achieve an improved quality of life if delivered cells could restore satellite cell function...
May 18, 2018: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/29774392/cost-effectiveness-of-ventricular-assist-device-destination-therapy-for-advanced-heart-failure-in-duchenne-muscular-dystrophy
#9
Defne A Magnetta, JaHyun Kang, Peter D Wearden, Kenneth J Smith, Brian Feingold
Destination ventricular assist device therapy (DT-VAD) is well accepted in select adults with medically refractory heart failure (HF) who are not transplant candidates; however, its use in younger patients with progressive diseases is unclear. We sought to evaluate the cost-effectiveness of DT-VAD in Duchenne muscular dystrophy (DMD) patients with advanced HF. We created a Markov-state transition model (5-year horizon) to compare survival, costs, and quality of life (QOL) between medical management and DT-VAD in DMD with advanced HF...
May 17, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29774305/multi-slice-mri-reveals-heterogeneity-in-disease-distribution-along-the-length-of-muscle-in-duchenne-muscular-dystrophy
#10
Stephen M Chrzanowski, Celine Baligand, Rebecca J Willcocks, Jasjit Deol, Ilona Schmalfuss, Donovan J Lott, Michael J Daniels, Claudia Senesac, Glenn A Walter, Krista Vandenborne
Background: Duchenne muscular dystrophy (DMD) causes progressive pathologic changes to muscle secondary to a cascade of inflammation, lipid deposition, and fibrosis. Clinically, this manifests as progressive weakness, functional loss, and premature mortality. Though insult to whole muscle groups is well established, less is known about the relationship between intramuscular pathology and function. Objective: Differences of intramuscular heterogeneity across muscle length were assessed using an ordinal MRI grading scale in lower leg muscles of boys with DMD and correlated to patient's functional status...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29771942/antisense-pmo-cocktails-effectively-skip-dystrophin-exons-45-55-in-myotubes-transdifferentiated-from-dmd-patient-fibroblasts
#11
Joshua Lee, Yusuke Echigoya, William Duddy, Takashi Saito, Yoshitsugu Aoki, Shin'ichi Takeda, Toshifumi Yokota
Antisense-mediated exon skipping has made significant progress as a therapeutic platform in recent years, especially in the case of Duchenne muscular dystrophy (DMD). Despite FDA approval of eteplirsen-the first-ever antisense drug clinically marketed for DMD-exon skipping therapy still faces the significant hurdles of limited applicability and unknown truncated protein function. In-frame exon skipping of dystrophin exons 45-55 represents a significant approach to treating DMD, as a large proportion of patients harbor mutations within this "hotspot" region...
2018: PloS One
https://www.readbyqxmd.com/read/29771317/exon-skipping-advances-for-duchenne-muscular-dystrophy
#12
Lucía Echevarría, Philippine Aupy, Aurélie Goyenvalle
Duchenne muscular dystrophy (DMD) is a fatal genetic disorder characterized by progressive muscle wasting that has currently no cure. Exon-skipping strategy represents one of the most promising therapeutic approaches that aims to restore expression of a shorter but functional dystrophin protein. The antisense field has remarkably progress over the last years with recent accelerated approval of the first ASO-based therapy for DMD, Exondys 51, though the therapeutic benefit remains to be proven in patients. Despite clinical advances, the poor effective delivery to target all muscle remains the main hurdle for antisense drug therapy...
May 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29766838/dmd-mutation-and-ltbp4-haplotype-do-not-predict-onset-of-left-ventricular-dysfunction-in-duchenne-muscular-dystrophy
#13
Charlotte S Van Dorn, Michael D Puchalski, Hsin-Yi Weng, Steven B Bleyl, Russell J Butterfield, Richard V Williams
Cardiomyopathy develops in >90% of Duchenne muscular dystrophy (DMD) patients by the second decade of life. We assessed the associations between DMD gene mutations, as well as Latent transforming growth factor-beta-binding protein 4 (LTBP4) haplotypes, and age at onset of myocardial dysfunction in DMD. DMD patients with baseline normal left ventricular systolic function and genotyping between 2004 and 2013 were included. Patients were grouped in multiple ways: specific DMD mutation domains, true loss-of-function mutations (group A) versus possible residual gene expression (group B), and LTBP4 haplotype...
May 16, 2018: Cardiology in the Young
https://www.readbyqxmd.com/read/29759004/is-there-a-delay-in-diagnosis-of-duchenne-muscular-dystrophy-among-preterm-born-males
#14
Aida Soim, Michael G Smith, Jennifer M Kwon, Joshua R Mann, Shiny Thomas, Emma Ciafaloni
The objective of this study was to investigate whether males who were born preterm took longer to receive a Duchenne muscular dystrophy diagnosis than term males. Data for males with Duchenne muscular dystrophy identified through a population-based surveillance system were analyzed using a Kaplan-Meier estimator. The first signs and symptoms were noted at a median age of 2 years in both groups. Median age when first signs and symptoms prompted medical evaluation was 2.59 years among preterm and 4.01 years among term males...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29754258/glycerol-induced-injury-as-a-new-model-of-muscle-regeneration
#15
REVIEW
Mohamed A A Mahdy
Skeletal muscle regenerates efficiently following injuries and diseases. However, muscle regeneration is compromised in several conditions by adipocyte infiltration and excessive collagen deposition. Adipocyte infiltration is a characteristic feature of sarcopenia, diabetes, cachexia, muscular dystrophies and advanced cases of Duchenne muscular dystrophy (DMD), while excessive collagen deposition is a hallmark of muscular dystrophies and severe muscle injuries, such as lacerations, contusions and strains. Muscle adipogenesis and fibrosis are major causes of muscle weakness that impairs muscle function...
May 12, 2018: Cell and Tissue Research
https://www.readbyqxmd.com/read/29752426/protein-engineering-on-human-recombinant-follistatin-enhancing-pharmacokinetic-characteristics-for-therapeutic-application
#16
Chuan Shen, Andrea Iskenderian, Dianna Lundberg, Tao He, Kathleen Palmieri, Robert Crooker, Qingwei Deng, Matthew Traylor, Sheng Gu, Haojing Rong, David Ehmann, Brian Pescatore, Bettina Strack-Logue, Alla Romashko, George Baviello, John Gill, Bohong Zhang, Muthuraman Meiyappan, Clark Pan, Angela W Norton
Follistatin (FS) is an important regulatory protein, a natural antagonist for transforming growth factor beta family members activin and myostatin. The diverse biological roles of the activin and myostatin signaling pathways make FS a promising therapeutic target for treating human diseases exhibiting inflammation, fibrosis and muscle disorders, such as Duchenne muscular dystrophy. However, rapid heparin-mediated hepatic clearance of FS limits its therapeutic potential. We targeted the heparin binding loop of FS for site-directed mutagenesis to improve clearance parameters...
May 11, 2018: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/29752304/eteplirsen-treatment-for-duchenne-muscular-dystrophy-exon-skipping-and-dystrophin-production
#17
Jay S Charleston, Frederick J Schnell, Johannes Dworzak, Cas Donoghue, Sarah Lewis, Lei Chen, G David Young, Anthony J Milici, Jon Voss, Uditha DeAlwis, Bruce Wentworth, Louise R Rodino-Klapac, Zarife Sahenk, Diane Frank, Jerry R Mendell
OBJECTIVE: To describe the quantification of novel dystrophin production in patients with Duchenne muscular dystrophy (DMD) after long-term treatment with eteplirsen. METHODS: Clinical study 202 was an observational, open-label extension of the randomized, controlled study 201 assessing the safety and efficacy of eteplirsen in patients with DMD with a confirmed mutation in the DMD gene amenable to correction by skipping of exon 51. Patients received once-weekly IV doses of eteplirsen 30 or 50 mg/kg...
May 11, 2018: Neurology
https://www.readbyqxmd.com/read/29752302/dollars-and-antisense-for-duchenne-muscular-dystrophy-eteplirsen-and-dystrophin
#18
EDITORIAL
Carla D Zingariello, Peter B Kang
No abstract text is available yet for this article.
May 11, 2018: Neurology
https://www.readbyqxmd.com/read/29751322/gait-deviations-in-duchenne-muscular-dystrophy-part-2-statistical-non-parametric-mapping-to-analyze-gait-deviations-in-children-with-duchenne-muscular-dystrophy
#19
Marije Goudriaan, Marleen Van den Hauwe, Cristina Simon-Martinez, Catherine Huenaerts, Guy Molenaers, Nathalie Goemans, Kaat Desloovere
BACKGROUND: Prolonged ambulation is considered important in children with Duchenne muscular dystrophy (DMD). However, previous studies analyzing DMD gait were sensitive to false positive outcomes, caused by uncorrected multiple comparisons, regional focus bias, and inter-component covariance bias. Also, while muscle weakness is often suggested to be the main cause for the altered gait pattern in DMD, this was never verified. RESEARCH QUESTION: Our research question was twofold: 1) are we able to confirm the sagittal kinematic and kinetic gait alterations described in a previous review with statistical non-parametric mapping (SnPM)? And 2) are these gait deviations related to lower limb weakness? METHODS: We compared gait kinematics and kinetics of 15 children with DMD and 15 typical developing (TD) children (5-17 years), with a two sample Hotelling's T2 test and post-hoc two-tailed, two-sample t-test...
April 30, 2018: Gait & Posture
https://www.readbyqxmd.com/read/29744875/expression-of-pannexin-1-and-pannexin-3-during-skeletal-muscle-development-regeneration-and-duchenne-muscular-dystrophy
#20
Tammy L Pham, Marie-Eve St-Pierre, Aymeric Ravel-Chapuis, Tara E C Parks, Stéphanie Langlois, Silvia Penuela, Bernard J Jasmin, Kyle N Cowan
Pannexin 1 (Panx1) and Pannexin 3 (Panx3) are single membrane channels recently implicated in myogenic commitment, as well as myoblast proliferation and differentiation in vitro. However, their expression patterns during skeletal muscle development and regeneration had yet to be investigated. Here, we show that Panx1 levels increase during skeletal muscle development becoming highly expressed together with Panx3 in adult skeletal muscle. In adult mice, Panx1 and Panx3 were differentially expressed in fast- and slow-twitch muscles...
May 10, 2018: Journal of Cellular Physiology
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