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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
#1
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
#2
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
#3
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
#4
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
#5
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/28181689/prenatal-diagnosis-of-duchenne-muscular-dystrophy-in-131-chinese-families-with-dystrophinopathy
#6
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
#7
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/28162170/-effects-of-different-sulfonylureas-on-the-warm-up-phenomenon-in-diabetes-patients-with-coronary-artery-disease
#8
M Zheng, L Z Li, Z A Jiang, L H Li, Y G Feng, X H Fu
Objective: To explore the different effects of chronic treatment with glibenclamide and gliclazide on the warm-up phenomenon in diabetes patients with coronary artery disease. Methods: A total of seventy-one patients with chronic stable angina and diabetes who were positive for exercise test and was proven that the stenosis degree was 70%-90% in at least one major branch through coronary angiogram were included into the study.They were divided into three groups, diet control group (DMD), glibenclamide group (DMG1) and gliclazide group (DMG2), according to the treatment of diabetes...
January 17, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28161362/ngf-dependent-axon-growth-and-regeneration-are-altered-in-sympathetic-neurons-of-dystrophic-mdx-mice
#9
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
#10
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...
January 6, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28157327/discrete-molecular-dynamics-approach-to-the-study-of-disordered-and-aggregating-proteins
#11
Agustí Emperador, Modesto Orozco
We present a refinement of the Coarse Grained PACSAB force field for Discrete Molecular Dynamics (DMD) simulations of proteins in aqueous conditions. As the original version, the refined method provides good representation of the structure and dynamics of folded proteins but provides much better representations of a variety of unfolded proteins, including some very large, impossible to analyze by atomistic simulation methods. The PACSAB/DMD method also reproduces accurately aggregation properties, providing good pictures of the structural ensembles of proteins showing a folded core and an intrinsically disordered region...
February 15, 2017: Journal of Chemical Theory and Computation
https://www.readbyqxmd.com/read/28152980/dmdtoolkit-a-tool-for-visualizing-the-mutated-dystrophin-protein-and-predicting-the-clinical-severity-in-dmd
#12
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
#13
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
https://www.readbyqxmd.com/read/28147695/note-suppression-of-khz-frequency-switching-noise-in-digital-micro-mirror-devices
#14
Klaus Hueck, Anton Mazurenko, Niclas Luick, Thomas Lompe, Henning Moritz
High resolution digital micro-mirror devices (DMDs) make it possible to produce nearly arbitrary light fields with high accuracy, reproducibility, and low optical aberrations. However, using these devices to trap and manipulate ultracold atomic systems for, e.g., quantum simulation is often complicated by the presence of kHz-frequency switching noise. Here we demonstrate a simple hardware extension that solves this problem and makes it possible to produce truly static light fields. This modification leads to a 47 fold increase in the time that we can hold ultracold (6)Li atoms in a dipole potential created with the DMD...
January 2017: Review of Scientific Instruments
https://www.readbyqxmd.com/read/28139640/evidence-for-actn3-as-a-genetic-modifier-of-duchenne-muscular-dystrophy
#15
Marshall W Hogarth, Peter J Houweling, Kristen C Thomas, Heather Gordish-Dressman, Luca Bello, Elena Pegoraro, Eric P Hoffman, Stewart I Head, Kathryn N North
Duchenne muscular dystrophy (DMD) is characterized by muscle degeneration and progressive weakness. There is considerable inter-patient variability in disease onset and progression, which can confound the results of clinical trials. Here we show that a common null polymorphism (R577X) in ACTN3 results in significantly reduced muscle strength and a longer 10 m walk test time in young, ambulant patients with DMD; both of which are primary outcome measures in clinical trials. We have developed a double knockout mouse model, which also shows reduced muscle strength, but is protected from stretch-induced eccentric damage with age...
January 31, 2017: Nature Communications
https://www.readbyqxmd.com/read/28118369/autonomic-modulation-in-duchenne-muscular-dystrophy-during-a-computer-task-a-prospective-control-trial
#16
Mayra Priscila Boscolo Alvarez, Talita Dias da Silva, Francis Meire Favero, Vitor Engrácia Valenti, Rodrigo Daminello Raimundo, Luiz Carlos Marques Vanderlei, David M Garner, Carlos Bandeira de Mello Monteiro
INTRODUCTION: Duchenne Muscular Dystrophy (DMD) is characterized by progressive muscle weakness that can lead to disability. Owing to functional difficulties faced by individuals with DMD, the use of assistive technology is essential to provide or facilitate functional abilities. In DMD, cardiac autonomic dysfunction has been reported in addition to musculoskeletal impairment. Consequently, the objective was to investigate acute cardiac autonomic responses, by Heart Rate Variability (HRV), during computer tasks in subjects with DMD...
2017: PloS One
https://www.readbyqxmd.com/read/28118087/identification-of-a-peptide-for-systemic-brain-delivery-of-a-morpholino-oligonucleotide-in-mouse-models-of-spinal-muscular-atrophy
#17
Fazel Shabanpoor, Suzan M Hammond, Frank Abendroth, Gareth Hazell, Matthew J A Wood, Michael J Gait
Splice-switching antisense oligonucleotides are emerging treatments for neuromuscular diseases, with several splice-switching oligonucleotides (SSOs) currently undergoing clinical trials such as for Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA). However, the development of systemically delivered antisense therapeutics has been hampered by poor tissue penetration and cellular uptake, including crossing of the blood-brain barrier (BBB) to reach targets in the central nervous system (CNS)...
January 24, 2017: Nucleic Acid Therapeutics
https://www.readbyqxmd.com/read/28117876/interventions-to-prevent-and-treat-corticosteroid-induced-osteoporosis-and-prevent-osteoporotic-fractures-in-duchenne-muscular-dystrophy
#18
REVIEW
Jennifer M Bell, Michael D Shields, Janet Watters, Alistair Hamilton, Timothy Beringer, Mark Elliott, Rosaline Quinlivan, Sandya Tirupathi, Bronagh Blackwood
BACKGROUND: Corticosteroid treatment is considered the 'gold standard' for Duchenne muscular dystrophy (DMD); however, it is also known to induce osteoporosis and thus increase the risk of vertebral fragility fractures. Good practice in the care of those with DMD requires prevention of these adverse effects. Treatments to increase bone mineral density include bisphosphonates and vitamin D and calcium supplements, and in adolescents with pubertal delay, testosterone. Bone health management is an important part of lifelong care for patients with DMD...
January 24, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28117478/mouthpiece-ventilation-in-duchenne-muscular-dystrophy-a-rescue-strategy-for-noncompliant-patients
#19
Giuseppe Fiorentino, Anna Annunziata, Rosa Cauteruccio, Gianfranco Scotto di Frega, Antonio Esquinas
Objective: To evaluate mouthpiece ventilation (MPV) in patients with Duchenne muscular dystrophy (DMD) who are noncompliant with noninvasive ventilation (NIV). Methods: We evaluated four young patients with DMD who had previously refused to undergo NIV. Each patient was reassessed and encouraged to try MPV. Results: The four patients tolerated MPV well and were compliant with NIV at home. MPV proved to be preferable and more comfortable than NIV with any other type of interface...
November 2016: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
https://www.readbyqxmd.com/read/28116794/genetic-profile-of-brazilian-patients-with-dystrophinopathies
#20
Paula Abreu Ducceschi de Almeida, Marcela Câmara Machado-Costa, Gabrielle Novais Manzoli, Leticia Sauma Ferreira, Maria do Carmo de Souza Rodrigues, Larissa Souza Mario Bueno, Jonas Alex Morales Saute, Filippo Pinto Vairo, Ursula da Silveira Matte, Marina Siebert, Silvia Liliana Cossio, Gabriel S Macedo, Pablo Brea Winckler, Michele Michelin Becker, Lucas Vilas Boas Magalhães, Marcus Vinicius Magno Gonçalves, Carlo Domenico Marrone, Anamarli Nucci, Marcondes C França
Different types of mutations in the DMD gene underlie Duchenne (DMD) and Becker (BMD) muscular dystrophies. Large deletions and duplications are the most frequent causative genetic alterations worldwide, but little is known about DMD/BMD genetic profile in Brazil. Hence, we recruited patients with DMD and BMD from 8 neuromuscular reference centers along the country, and performed a comprehensive molecular investigation that included MLPA and NGS analyses. We evaluated 199 patients from 177 unrelated families: 166 with DMD, 32 with BMD and one 1...
January 24, 2017: Clinical Genetics
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