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dystrophy duchenne

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https://www.readbyqxmd.com/read/28533764/serum-creatinine-distinguishes-duchenne-muscular-dystrophy-from-becker-muscular-dystrophy-in-patients-aged-%C3%A2-3-years-a-retrospective-study
#1
Liang Wang, Menglong Chen, Ruojie He, Yiming Sun, Juan Yang, Lulu Xiao, Jiqing Cao, Huili Zhang, Cheng Zhang
Here, we investigated correlations between serum creatinine (SCRN) levels and clinical phenotypes of dystrophinopathy in young patients. Sixty-eight patients with dystrophinopathy at the Neuromuscular Clinic, The First Affiliated Hospital, Sun Yat-sen University, were selected for this study. The diagnosis of dystrophinopathy was based on clinical manifestation, biochemical changes, and molecular analysis. Some patients underwent muscle biopsies; SCRN levels were tested when patients were ≤3 years old, and reading frame changes were analyzed...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28533404/repression-of-phosphatidylinositol-transfer-protein-%C3%AE-ameliorates-the-pathology-of-duchenne-muscular-dystrophy
#2
Natassia M Vieira, Janelle M Spinazzola, Matthew S Alexander, Yuri B Moreira, Genri Kawahara, Devin E Gibbs, Lillian C Mead, Sergio Verjovski-Almeida, Mayana Zatz, Louis M Kunkel
Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused by X-linked inherited mutations in the DYSTROPHIN (DMD) gene. Absence of dystrophin protein from the sarcolemma causes severe muscle degeneration, fibrosis, and inflammation, ultimately leading to cardiorespiratory failure and premature death. Although there are several promising strategies under investigation to restore dystrophin protein expression, there is currently no cure for DMD, and identification of genetic modifiers as potential targets represents an alternative therapeutic strategy...
May 22, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28532665/evaluation-of-the-behavioral-characteristics-of-the-mdx-mouse-model-of-duchenne-muscular-dystrophy-through-operant-conditioning-procedures
#3
Matthew Lewon, Christina M Peters, Pam M Van Ry, Dean J Burkin, Kenneth W Hunter, Linda J Hayes
The mdx mouse is an important nonhuman model for Duchenne muscular dystrophy (DMD) research. Characterizing the behavioral traits of the strain relative to congenic wild-type (WT) mice may enhance our understanding of the cognitive deficits observed in some humans with DMD and contribute to treatment development and evaluation. In this paper we report the results of a number of experiments comparing the behavior of mdx to WT mice in operant conditioning procedures designed to assess learning and memory. We found that mdx outperformed WT in all learning and memory tasks involving food reinforcement, and this appeared to be related to the differential effects of the food deprivation motivating operation on mdx mice...
May 19, 2017: Behavioural Processes
https://www.readbyqxmd.com/read/28531774/clinical-assessment-underestimates-fat-mass-and-overestimates-resting-energy-expenditure-in-children-with-neuromuscular-diseases
#4
Salesa Barja, Regina Pérez
BACKGROUND: Nutritional problems are frequent among patients with neuromuscular diseases, who consequently need an adequate evaluation. OBJECTIVE: to describe nutritional assessment and to estimate and measure body composition and energy requirement in children with neuromuscular diseases. SUBJECTS AND METHODS: We performed anthropometry, skinfold measurement and bioelectric impedance analysis (BIA) for estimate and measure, respectively, fat mass (FM)...
October 2016: Clinical Nutrition ESPEN
https://www.readbyqxmd.com/read/28530521/the-direct-cost-of-managing-a-rare-disease-assessing-medical-and-pharmacy-costs-associated-with-duchenne-muscular-dystrophy-in-the-united-states
#5
Sarah Thayer, Christopher Bell, Craig M McDonald
BACKGROUND: A Duchenne muscular dystrophy (DMD) cohort was identified using a claims-based algorithm to estimate health care utilization and costs for commercially insured DMD patients in the United States. Previous analyses have used broad diagnosis codes that include a range of muscular dystrophy types as a proxy to estimate the burden of DMD. OBJECTIVE: To estimate DMD-associated resource utilization and costs in a sample of patients identified via a claims-based algorithm using diagnosis codes, pharmacy prescriptions, and procedure codes unique to DMD management based on DMD clinical milestones...
June 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/28529527/skeletal-muscle-cell-induction-from-pluripotent-stem-cells
#6
REVIEW
Yusaku Kodaka, Gemachu Rabu, Atsushi Asakura
Embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) have the potential to differentiate into various types of cells including skeletal muscle cells. The approach of converting ESCs/iPSCs into skeletal muscle cells offers hope for patients afflicted with the skeletal muscle diseases such as the Duchenne muscular dystrophy (DMD). Patient-derived iPSCs are an especially ideal cell source to obtain an unlimited number of myogenic cells that escape immune rejection after engraftment. Currently, there are several approaches to induce differentiation of ESCs and iPSCs to skeletal muscle...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28526070/the-golden-retriever-model-of-duchenne-muscular-dystrophy
#7
REVIEW
Joe N Kornegay
Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the DMD gene and loss of the protein dystrophin. The absence of dystrophin leads to myofiber membrane fragility and necrosis, with eventual muscle atrophy and contractures. Affected boys typically die in their second or third decade due to either respiratory failure or cardiomyopathy. Despite extensive attempts to develop definitive therapies for DMD, the standard of care remains prednisone, which has only palliative benefits. Animal models, mainly the mdx mouse and golden retriever muscular dystrophy (GRMD) dog, have played a key role in studies of DMD pathogenesis and treatment development...
May 19, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28520860/growing-patients-with-duchenne-muscular-dystrophy-longitudinal-changes-in-their-dentofacial-morphology-and-orofacial-functional-capacities
#8
Fabienne Egli, Sébastien Botteron, Catherine Morel, Stavros Kiliaridis
Aim: The aim of this study was to describe the longitudinal changes in facial morphology, dental arch alterations and oral functional capacities that occur in growing patients with Duchenne muscular dystrophy (DMD) in order to identify the effects of the progression of the disease. Subjects and Methods: Twelve DMD patients (6.5-17.5 years of age) and 12 matched controls were screened on two different occasions (T1 and T2), 2 years apart. Dental casts, lateral cephalometric radiographs, maximal posterior bite force and labial force were measured to determine changes in their functional capacities and dentofacial morphology...
May 17, 2017: European Journal of Orthodontics
https://www.readbyqxmd.com/read/28513807/the-nuclear-pore-protein-nup153-associates-with-chromatin-and-regulates-cardiac-gene-expression-in-dystrophic-mdx-hearts
#9
Simona Nanni, Agnese Re, Cristian Ripoli, Aoife Gowran, Patrizia Nigro, Domenico D'Amario, Antonio Amodeo, Filippo Crea, Claudio Grassi, Alfredo Pontecorvi, Antonella Farsetti, Claudia Colussi
Aims: Beyond the control of nuclear-cytoplasmic trafficking nucleoporins regulate gene expression and are involved in cardiac diseases. Notably, a number of cardiovascular disorders have been linked to alterations in epigenetic mechanisms. Here we aimed to determine the contribution of Nup153 to the epigenetic alterations occurring in cardiomyopathy of dystrophin-deficient mdx mice (C57BL/10ScSn-Dmd mdx /J). Methods and results: Nup153 was lysine-acetylated and its expression was significantly increased at protein level in mdx hearts compared with controls...
November 1, 2016: Cardiovascular Research
https://www.readbyqxmd.com/read/28509411/variations-in-duchenne-muscular-dystrophy-course-in-a-multi-ethnic-uk-population-potential-influence-of-socio-economic-factors
#10
Margaret Hufton, Helen Roper
AIM: To explore variation in clinical course and steroid treatment in Duchenne muscular dystrophy (DMD) by ethnic origin and socio-economic status. METHOD: In this longitudinal cohort study, clinical outcome was defined as age at loss of ambulation (LOA). Ages are presented as months for accurate calculation. Steroid use was reviewed against national guidelines. Kaplan-Meier survival analysis was used to determine probabilities over time of LOA. Log-rank test was used to evaluate comparisons between ethnic and socio-economic groups...
May 16, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28505980/creation-of-a-novel-humanized-dystrophic-mouse-model-of-duchenne-muscular-dystrophy-and-application-of-a-crispr-cas9-gene-editing-therapy
#11
Courtney S Young, Ekaterina Mokhonova, Marbella Quinonez, April D Pyle, Melissa J Spencer
Duchenne muscular dystrophy is caused by mutations in DMD which disrupt the reading frame. Therapeutic strategies that restore DMD's reading frame, such as exon skipping and CRISPR/Cas9, need to be tested in the context of the human DMD sequence in vivo. We have developed a novel dystrophic mouse model by using CRISPR/Cas9 to delete exon 45 in the human DMD gene in hDMD mice, which places DMD out-of-frame. We have utilized this model to demonstrate that our clinically-relevant CRISPR/Cas9 platform, which targets deletion of human DMD exons 45-55, can be directly applied in vivo to restore dystrophin...
May 6, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28503465/correlation-of-serum-creatine-kinase-level-with-pulmonary-function-in-duchenne-muscular-dystrophy
#12
Eun Young Kim, Jang Woo Lee, Mi Ri Suh, Won Ah Choi, Seong Woong Kang, Hyeon Jun Oh
OBJECTIVE: To investigate the relationship between serum creatine kinase (CK) level and pulmonary function in Duchenne muscular dystrophy (DMD). METHODS: A total of 202 patients with DMD admitted to the Department of Rehabilitation Medicine, Gangnam Severance Hospital were enrolled from January 1, 1999 to March 31, 2015. Seventeen patients were excluded. Data collected from the 185 patients included age, height, weight, body mass index, pulmonary function tests including forced vital capacity (FVC), peak cough flow, maximal expiratory pressure (MEP), and maximal inspiratory pressure (MIP), and laboratory measurements (serum level of CK, CK-MB, troponin-T, and B-type natriuretic peptide)...
April 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28492933/myocardial-fibrosis-in-duchenne-and-becker-muscular-dystrophy-reply
#13
Marly Conceição Silva, Clerio Francisco Azevedo, Carlos Eduardo Rochitte
No abstract text is available yet for this article.
May 10, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28492916/myocardial-fibrosis-in-duchenne-and-becker-muscular-dystrophy
#14
Robert C Bahler
No abstract text is available yet for this article.
May 10, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28491099/induction-of-pluripotent-stem-cells-from-a-manifesting-carrier-of-duchenne-muscular-dystrophy-and-characterization-of-their-x-inactivation-status
#15
Yuko Miyagoe-Suzuki, Takashi Nishiyama, Miho Nakamura, Asako Narita, Fusako Takemura, Satoru Masuda, Narihiro Minami, Kumiko Murayama, Hirofumi Komaki, Yu-Ichi Goto, Shin'ichi Takeda
Three to eight percent of female carriers of Duchenne muscular dystrophy (DMD) develop dystrophic symptoms ranging from mild muscle weakness to a rapidly progressive DMD-like muscular dystrophy due to skewed inactivation of X chromosomes during early development. Here, we generated human induced pluripotent stem cells (hiPSCs) from a manifesting female carrier using retroviral or Sendai viral (SeV) vectors and determined their X-inactivation status. Although manifesting carrier-derived iPS cells showed normal expression of human embryonic stem cell markers and formed well-differentiated teratomas in vivo, many hiPS clones showed bi-allelic expression of the androgen receptor (AR) gene and loss of X-inactivation-specific transcript and trimethyl-histone H3 (Lys27) signals on X chromosomes, suggesting that both X chromosomes of the hiPS cells are in an active state...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28486179/pharmacological-advances-for-treatment-in-duchenne-muscular-dystrophy
#16
REVIEW
Simon Guiraud, Kay E Davies
Duchenne muscular dystrophy (DMD) is a lethal, X-linked muscle-wasting disease caused by lack of dystrophin, essential for muscle fibre integrity. Despite extensive pre-clinical studies, development of an effective treatment has proved challenging. More recently, significant progress has been made with the first drug approval using a genetic approach and the application of pharmacological agents which slow the progression of the disease. Drug development for DMD has mainly used two strategies: (1) the restoration of dystrophin expression or the expression of the compensatory utrophin protein as an efficient surrogate, and (2) the mitigation of secondary downstream pathological mechanisms...
May 6, 2017: Current Opinion in Pharmacology
https://www.readbyqxmd.com/read/28484312/genetic-diagnosis-as-a-tool-for-personalized-treatment-of-duchenne-muscular-dystrophy
#17
REVIEW
Luca Bello, Elena Pegoraro
Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between Duchenne, Becker, or intermediate muscular dystrophy is not obvious. As molecular treatments aimed at dystrophin restoration in DMD are increasingly available as commercialized drugs or within clinical trials, genetic diagnosis has become an indispensable tool in order to determine eligibility for these treatments...
December 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28481224/intermittent-glucocorticoid-steroid-dosing-enhances-muscle-repair-without-eliciting-muscle-atrophy
#18
Mattia Quattrocelli, David Y Barefield, James L Warner, Andy H Vo, Michele Hadhazy, Judy U Earley, Alexis R Demonbreun, Elizabeth M McNally
Glucocorticoid steroids such as prednisone are prescribed for chronic muscle conditions such as Duchenne muscular dystrophy, where their use is associated with prolonged ambulation. The positive effects of chronic steroid treatment in muscular dystrophy are paradoxical because these steroids are also known to trigger muscle atrophy. Chronic steroid use usually involves once-daily dosing, although weekly dosing in children has been suggested for its reduced side effects on behavior. In this work, we tested steroid dosing in mice and found that a single pulse of glucocorticoid steroids improved sarcolemmal repair through increased expression of annexins A1 and A6, which mediate myofiber repair...
May 8, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28472288/oxidative-stress-in-duchenne-muscular-dystrophy-focus-on-the-nrf2-redox-pathway
#19
Sara Petrillo, Laura Pelosi, Fiorella Piemonte, Lorena Travaglini, Laura Forcina, Michela Catteruccia, Stefania Petrini, Margherita Verardo, Adele D'Amico, Antonio Musarò, Enrico Bertini
Oxidative stress is involved in the pathogenesis of Duchenne muscular dystrophy (DMD), an X-linked genetic disorder caused by mutations in the dystrophin gene and characterized by progressive, lethal muscle degeneration and chronic inflammation. In this study, we explored the expression and signaling pathway of a master player of the anti-oxidant and anti-inflammatory response, namely NRF2, in muscle biopsies of DMD patients. We classified DMD patients in two age groups (Class I, 0-2 years and Class II, 2-9 years), in order to evaluate the antioxidant pathway expression during the disease progression...
May 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28469083/microrna-29-overexpression-by-adeno-associated-virus-suppresses-fibrosis-and-restores-muscle-function-in-combination-with-micro-dystrophin
#20
Kristin N Heller, Joshua T Mendell, Jerry R Mendell, Louise R Rodino-Klapac
Duchenne muscular dystrophy (DMD) is caused by dystrophin deficiency resulting in progressive muscle weakness and fibrotic scarring. Muscle fibrosis impairs blood flow, hampering muscle repair and regeneration. Irrespective of the success of gene restoration, functional improvement is limited without reducing fibrosis. The levels of miR-29c, a known regulator of collagen, are reduced in DMD. Our goal is to develop translational, antifibrotic therapy by overexpressing miR-29c. We injected the gastrocnemius muscle with either self-complementary AAV...
May 4, 2017: JCI Insight
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