keyword
MENU ▼
Read by QxMD icon Read
search

Duchene muscular dystrophy

keyword
https://www.readbyqxmd.com/read/27916992/gene-editing-for-duchenne-muscular-dystrophy-using-the-crispr-cas9-technology-the-importance-of-fine-tuning-the-approach
#1
Jacques P Tremblay, Jean-Paul Iyombe-Engembe, Benjamin Duchêne, Dominique L Ouellet
No abstract text is available yet for this article.
November 2016: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/27854217/prevalence-and-genetic-profile-of-duchene-and-becker-muscular-dystrophy-in-puerto-rico
#2
Edwardo Ramos, José G Conde, Rafael Arias Berrios, Sherly Pardo, Omar Gómez, Manuel F Mas Rodríguez
BACKGROUND: Duchenne and Becker Muscular Dystrophy (DMD and BMD, respectively), are common forms of inherited muscle disease. Information regarding the epidemiology of these conditions, including genotype, is still sparse. OBJECTIVE: To establish the prevalence and genetic profile of DMD and BMD in Puerto Rico. METHODS: We collected data from medical records in all Muscular Dystrophy Association (MDA) clinics in Puerto Rico in order to estimate the prevalence of DMD and BMD and to describe the genotypic profile of these patients...
May 27, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27798264/nad-repletion-improves-muscle-function-in-muscular-dystrophy-and-counters-global-parylation
#3
Dongryeol Ryu, Hongbo Zhang, Eduardo R Ropelle, Vincenzo Sorrentino, Davi A G Mázala, Laurent Mouchiroud, Philip L Marshall, Matthew D Campbell, Amir Safi Ali, Gary M Knowels, Stéphanie Bellemin, Shama R Iyer, Xu Wang, Karim Gariani, Anthony A Sauve, Carles Cantó, Kevin E Conley, Ludivine Walter, Richard M Lovering, Eva R Chin, Bernard J Jasmin, David J Marcinek, Keir J Menzies, Johan Auwerx
Neuromuscular diseases are often caused by inherited mutations that lead to progressive skeletal muscle weakness and degeneration. In diverse populations of normal healthy mice, we observed correlations between the abundance of mRNA transcripts related to mitochondrial biogenesis, the dystrophin-sarcoglycan complex, and nicotinamide adenine dinucleotide (NAD(+)) synthesis, consistent with a potential role for the essential cofactor NAD(+) in protecting muscle from metabolic and structural degeneration. Furthermore, the skeletal muscle transcriptomes of patients with Duchene's muscular dystrophy (DMD) and other muscle diseases were enriched for various poly[adenosine 5'-diphosphate (ADP)-ribose] polymerases (PARPs) and for nicotinamide N-methyltransferase (NNMT), enzymes that are major consumers of NAD(+) and are involved in pleiotropic events, including inflammation...
October 19, 2016: Science Translational Medicine
https://www.readbyqxmd.com/read/27640799/-comparison-analysis-of-muscle-enzymes-in-children-with-myocarditis-and-duchene-becker-muscular-dystrophy
#4
Yali Zhang, Hong Wang, Xuexin Yu, Yanlin Xing, Ce Wang, Rong He
OBJECTIVE: To compare the changes in muscle enzyme between children with myocarditis and Duchene/Becker muscular dystrophy (DMD/BMD), and to seek the explanations for variation.
 METHODS: The retrospective analysis for 83 myocarditis children (myocarditis group) and 69 DMD/BMD children (DMD/BMD group), who were collected from Department of Pediatric of Shengjing Hospital affiliated to China Medical University since January 2008 to May 2015, was carried out. At the same time, 24 healthy children from the Department of Pediatric Development served as a control group...
September 28, 2016: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/27109386/muscular-dystrophy-in-a-dish-engineered-human-skeletal-muscle-mimetics-for-disease-modeling-and-drug-discovery
#5
REVIEW
Alec S T Smith, Jennifer Davis, Gabsang Lee, David L Mack, Deok-Ho Kim
Engineered in vitro models using human cells, particularly patient-derived induced pluripotent stem cells (iPSCs), offer a potential solution to issues associated with the use of animals for studying disease pathology and drug efficacy. Given the prevalence of muscle diseases in human populations, an engineered tissue model of human skeletal muscle could provide a biologically accurate platform to study basic muscle physiology, disease progression, and drug efficacy and/or toxicity. Such platforms could be used as phenotypic drug screens to identify compounds capable of alleviating or reversing congenital myopathies, such as Duchene muscular dystrophy (DMD)...
September 2016: Drug Discovery Today
https://www.readbyqxmd.com/read/26740235/next-generation-sequencing-discloses-a-nonsense-mutation-in-the-dystrophin-gene-from-long-preserved-dried-umbilical-cord-and-low-level-somatic-mosaicism-in-the-proband-mother
#6
Mariko Taniguchi-Ikeda, Yasuhiro Takeshima, Tomoko Lee, Masahiro Nishiyama, Hiroyuki Awano, Mariko Yagi, Ai Unzaki, Kandai Nozu, Hisahide Nishio, Masafumi Matsuo, Hiroki Kurahashi, Tatsushi Toda, Ichiro Morioka, Kazumoto Iijima
Duchene muscular dystrophy (DMD) is a progressive muscle wasting disease, caused by mutations in the dystrophin (DMD) on the X chromosome. One-third of patients are estimated to have de novo mutations. To provide in-depth genetic counseling, the comprehensive identification of mutations is mandatory. However, many DMD patients did not undergo genetic diagnosis because detailed genetic diagnosis was not available or their mutational types were difficult to identify. Here we report the genetic testing of a sporadic DMD boy, who died >20 years previously...
April 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/26642076/long-term-follow-up-of-pulmonary-function-and-scoliosis-in-patients-with-duchenne-s-muscular-dystrophy-and-spinal-muscular-atrophy
#7
Kenon Chua, Chin Yik Tan, Zhaojin Chen, Hee Kit Wong, Eng Hin Lee, Stacy K H Tay, Hian Tat Ong, Daniel Y T Goh, James H P Hui
BACKGROUND: Spine surgery for neuromuscular scoliosis in patients with Duchenne's Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA) remained controversial. This study aimed to review the long-term results of spine surgery and its effect on pulmonary function in these patients. METHODS: A retrospective review was conducted for the above patients who had undergone surgery from 1990 to 2006 in a tertiary hospital. Their yearly lung function tests, clinical records, and x-ray films before and after surgery were reviewed...
January 2016: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/26133377/antioxidant-properties-of-whole-body-periodic-acceleration-pgz
#8
Arkady Uryash, Jorge Bassuk, Paul Kurlansky, Francisco Altamirano, Jose R Lopez, Jose A Adams
The recognition that oxidative stress is a major component of several chronic diseases has engendered numerous trials of antioxidant therapies with minimal or no direct benefits. Nanomolar quantities of nitric oxide released into the circulation by pharmacologic stimulation of eNOS have antioxidant properties but physiologic stimulation as through increased pulsatile shear stress of the endothelium has not been assessed. The present study utilized a non-invasive technology, periodic acceleration (pGz) that increases pulsatile shear stress such that upregulation of cardiac eNOS occurs, We assessed its efficacy in normal mice and mouse models with high levels of oxidative stress, e...
2015: PloS One
https://www.readbyqxmd.com/read/26009153/mechanical-overloading-increases-maximal-force-and-reduces-fragility-in-hind-limb-skeletal-muscle-from-mdx-mouse
#9
Arnaud Ferry, Ara Parlakian, Pierre Joanne, Bodvael Fraysse, Takouhie Mgrditchian, Pauline Roy, Denis Furling, Gillian Butler-Browne, Onnik Agbulut
There is fear that mechanical overloading (OVL; ie, high-force contractions) accelerates Duchenne muscular dystrophy. Herein, we determined whether short-term OVL combined with wheel running, short-term OVL combined with irradiation, and long-term OVL are detrimental for hind limb mdx mouse muscle, a murine model of Duchene muscular dystrophy exhibiting milder dystrophic features. OVL was induced by the surgical ablation of the synergic muscles of the plantaris muscle, a fast muscle susceptible to contraction-induced muscle damage in mdx mice...
July 2015: American Journal of Pathology
https://www.readbyqxmd.com/read/25770062/structural-origin-of-the-drastic-modification-of-second-harmonic-generation-intensity-pattern-occurring-in-tail-muscles-of-climax-stages-xenopus-tadpoles
#10
Gaëlle Recher, Pascal Coumailleau, Denis Rouède, François Tiaho
Second harmonic generation (SHG) microscopy is a powerful tool for studying submicron architecture of muscles tissues. Using this technique, we show that the canonical single frequency sarcomeric SHG intensity pattern (SHG-IP) of premetamorphic xenopus tadpole tail muscles is converted to double frequency (2f) sarcomeric SHG-IP in metamorphic climax stages due to massive physiological muscle proteolysis. This conversion was found to rise from 7% in premetamorphic muscles to about 97% in fragmented muscular apoptotic bodies...
April 2015: Journal of Structural Biology
https://www.readbyqxmd.com/read/25767538/exon-deletion-pattern-in-duchene-muscular-dystrophy-in-north-west-of-iran
#11
Mohammad Barzegar, Parinaz Habibi, Mortaza Bonyady, Vahideh Topchizadeh, Shadi Shiva
OBJECTIVE: Duchene and Becker Muscular Dystrophy (DMD/ BMD) are x-linked disorders that both are the result of heterogeneous mutations in the dystrophin gene. The frequency and distribution of dystrophin gene deletions in DMD/ BMD patients show different patterns among different populations. This study investigates the deletion rate, type, and distribution of this gene in the Azeri Turk population of North West Iran. MATERIALS &METHODS: In this study, 110 patients with DMD/ BMD were studied for intragenic deletions in 24 exons and promoter regions of dystrophin genes by using multiplex PCR...
2015: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/25727481/smad3-and-sp1-sp3-transcription-factors-collaborate-to-regulate-connective-tissue-growth-factor-gene-expression-in-myoblasts-in-response-to-transforming-growth-factor-%C3%AE
#12
Gonzalo Córdova, Alice Rochard, Camilo Riquelme-Guzmán, Catalina Cofré, Daniel Scherman, Pascal Bigey, Enrique Brandan
Fibrotic disorders are characterized by an increase in extracellular matrix protein expression and deposition, Duchene Muscular Dystrophy being one of them. Among the factors that induce fibrosis are Transforming Growth Factor type β (TGF-β) and the matricellular protein Connective Tissue Growth Factor (CTGF/CCN2), the latter being a target of the TGF-β/SMAD signaling pathway and is the responsible for the profibrotic effects of TGF-β. Both CTGF and TGF are increased in tissues affected by fibrosis but little is known about the regulation of the expression of CTGF mediated by TGF-β in muscle cells...
September 2015: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/25110577/accumulation-of-oocytes-and-or-embryos-by-vitrification-a-new-strategy-for-managing-poor-responder-patients-undergoing-pre-implantation-diagnosis
#13
Alexia Chatziparasidou, Martine Nijs, Martha Moisidou, Oraiopoulou Chara, Christina Ioakeimidou, Christos Pappas, Nicos Christoforidis
BACKGROUND: Low (or poor) responder patients are women who require large doses of stimulation medications and produce less than an optimal number of oocytes during IVF cycles. Low responder patients produce few oocytes and embryos, which significantly reduces their chances for success in a preimplantation genetic diagnosis (PGD) cycle. Accumulation of vitrified oocytes or embryos before the actual PGD cycle is a possible strategy that might increase patient's chances for a healthy pregnancy...
2013: F1000Research
https://www.readbyqxmd.com/read/25102299/patient-tailored-application-for-duchene-muscular-dystrophy-on-mdx-mice-based-induced-mesenchymal-stem-cells
#14
Jaemin Jeong, Kyungshin Shin, Seung Bum Lee, Dong Ryul Lee, Heechung Kwon
Mesenchymal stem cells (MSCs) may be used as powerful tools for the repair and regeneration of damaged tissues. However, isolating tissue specific-derived MSCs may cause pain and increased infection rates in patients, and repetitive isolations may be required. To overcome these difficulties, we have examined alternative methods for MSC production. Here, we show that induced pluripotent stem cells (iPSCs) may be differentiated into mesenchymal stem cells (iMSCs) following exposure to SB431542. Purified iMSCs were administered to mdx mice to study skeletal muscle regeneration in a murine model of muscular dystrophy...
October 2014: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/24692912/evaluation-of-the-potential-therapeutic-use-of-immature-stem-cells-in-a-canine-model-for-duchene-muscular-dystrophy
#15
Ce Ambrosio, I Kerkis, Ds Martins, A Kerkis, Ma Miglino, M Zatz
No abstract text is available yet for this article.
2007: Journal of Stem Cells & Regenerative Medicine
https://www.readbyqxmd.com/read/24336167/loss-of-function-mutations-in-micu1-cause-a-brain-and-muscle-disorder-linked-to-primary-alterations-in-mitochondrial-calcium-signaling
#16
Clare V Logan, György Szabadkai, Jenny A Sharpe, David A Parry, Silvia Torelli, Anne-Marie Childs, Marjolein Kriek, Rahul Phadke, Colin A Johnson, Nicola Y Roberts, David T Bonthron, Karen A Pysden, Tamieka Whyte, Iulia Munteanu, A Reghan Foley, Gabrielle Wheway, Katarzyna Szymanska, Subaashini Natarajan, Zakia A Abdelhamed, Joanne E Morgan, Helen Roper, Gijs W E Santen, Erik H Niks, W Ludo van der Pol, Dick Lindhout, Anna Raffaello, Diego De Stefani, Johan T den Dunnen, Yu Sun, Ieke Ginjaar, Caroline A Sewry, Matthew Hurles, Rosario Rizzuto, Michael R Duchen, Francesco Muntoni, Eamonn Sheridan
Mitochondrial Ca(2+) uptake has key roles in cell life and death. Physiological Ca(2+) signaling regulates aerobic metabolism, whereas pathological Ca(2+) overload triggers cell death. Mitochondrial Ca(2+) uptake is mediated by the Ca(2+) uniporter complex in the inner mitochondrial membrane, which comprises MCU, a Ca(2+)-selective ion channel, and its regulator, MICU1. Here we report mutations of MICU1 in individuals with a disease phenotype characterized by proximal myopathy, learning difficulties and a progressive extrapyramidal movement disorder...
February 2014: Nature Genetics
https://www.readbyqxmd.com/read/23851606/initial-pulmonary-respiration-causes-massive-diaphragm-damage-and-hyper-ckemia-in-duchenne-muscular-dystrophy-dog
#17
Akinori Nakamura, Masanori Kobayashi, Mutsuki Kuraoka, Katsutoshi Yuasa, Naoko Yugeta, Takashi Okada, Shin'ichi Takeda
The molecular mechanism of muscle degeneration in a lethal muscle disorder Duchene muscular dystrophy (DMD) has not been fully elucidated. The dystrophic dog, a model of DMD, shows a high mortality rate with a marked increase in serum creatine kinase (CK) levels in the neonatal period. By measuring serum CK levels in cord and venous blood, we found initial pulmonary respiration resulted in massive diaphragm damage in the neonates and thereby lead to the high serum CK levels. Furthermore, molecular biological techniques revealed that osteopontin was prominently upregulated in the dystrophic diaphragm prior to the respiration, and that immediate-early genes (c-fos and egr-1) and inflammation/immune response genes (IL-6, IL-8, COX-2, and selectin E) were distinctly overexpressed after the damage by the respiration...
2013: Scientific Reports
https://www.readbyqxmd.com/read/23152054/autophagy-as-a-new-therapeutic-target-in-duchenne-muscular-dystrophy
#18
C De Palma, F Morisi, S Cheli, S Pambianco, V Cappello, M Vezzoli, P Rovere-Querini, M Moggio, M Ripolone, M Francolini, M Sandri, E Clementi
A resolutive therapy for Duchene muscular dystrophy, a severe degenerative disease of the skeletal muscle, is still lacking. Because autophagy has been shown to be crucial in clearing dysfunctional organelles and in preventing tissue damage, we investigated its pathogenic role and its suitability as a target for new therapeutic interventions in Duchenne muscular dystrophy (DMD). Here we demonstrate that autophagy is severely impaired in muscles from patients affected by DMD and mdx mice, a model of the disease, with accumulation of damaged organelles...
November 15, 2012: Cell Death & Disease
https://www.readbyqxmd.com/read/23140456/in-vivo-delivery-of-morpholino-oligos-by-cell-penetrating-peptides
#19
REVIEW
Hong M Moulton
Morpholino oligos (Morpholinos) are widely used tools for knocking down gene expression and are currently in a clinical trial for treatment of Duchene muscular dystrophy. A Morpholino analog has been in a clinical trial as a potential anti-bioterrorism agent for inhibiting replication of deadly Marburg viral infection. The cellular uptake of Morpholinos can been greatly increased by conjugation with cell-penetrating peptides (CPP). The use of the CPP-Morpholino conjugates (PPMOs) in vivo has been broadly demonstrated in viral, bacterial, genetic and other diseases...
2013: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/22137979/value-of-muscle-enzyme-measurement-in-evaluating-different-neuromuscular-diseases
#20
Yue Zhang, Jing-Jing Huang, Zhi-Qiang Wang, Ning Wang, Zhi-Ying Wu
BACKGROUND: Muscle enzymes sometimes can provide clues for many similar neuromuscular disorders. However literatures that described and compared the muscle enzyme levels among these diseases are few. We described their changes in a group of Chinese patients. METHODS: We reviewed creatine kinase (CK), lactate dehydrogenase (LDH), aspartate transaminase (AST) levels and CK/lDH in Chinese patients with Duchene/Becker muscular dystrophy (DMD/BMD), facioscapulohumeral muscular dystrophy (FSHD), limb-girdle muscular dystrophy (LGMD), polymyositis (PM), lipid storage myopathy (LSM), motor neuron disease (MND) and spinal muscular atrophy (SMA)...
February 18, 2012: Clinica Chimica Acta; International Journal of Clinical Chemistry
keyword
keyword
19338
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"