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https://www.readbyqxmd.com/read/29330543/cugc-for-duchenne-muscular-dystrophy-dmd
#1
David J Coote, Mark R Davis, Macarena Cabrera, Merrilee Needham, Nigel G Laing, Kristen J Nowak
No abstract text is available yet for this article.
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29328319/dynamic-spatial-filtering-using-a-digital-micromirror-device-for-high-speed-optical-diffraction-tomography
#2
Di Jin, Renjie Zhou, Zahid Yaqoob, Peter T C So
Optical diffraction tomography (ODT) is an emerging microscopy technique for three-dimensional (3D) refractive index (RI) mapping of transparent specimens. Recently, the digital micromirror device (DMD) based scheme for angle-controlled plane wave illumination has been proposed to improve the imaging speed and stability of ODT. However, undesired diffraction noise always exists in the reported DMD-based illumination scheme, which leads to a limited contrast ratio of the measurement fringe and hence inaccurate RI mapping...
January 8, 2018: Optics Express
https://www.readbyqxmd.com/read/29328187/kilohertz-binary-phase-modulator-for-pulsed-laser-sources-using-a-digital-micromirror-device
#3
Maximilian Hoffmann, Ioannis N Papadopoulos, Benjamin Judkewitz
The controlled modulation of an optical wavefront is required for aberration correction, digital phase conjugation, or patterned photostimulation. For most of these applications, it is desirable to control the wavefront modulation at the highest rates possible. The digital micromirror device (DMD) presents a cost-effective solution to achieve high-speed modulation and often exceeds the speed of the more conventional liquid crystal spatial light modulator but is inherently an amplitude modulator. Furthermore, spatial dispersion caused by DMD diffraction complicates its use with pulsed laser sources, such as those used in nonlinear microscopy...
January 1, 2018: Optics Letters
https://www.readbyqxmd.com/read/29322964/natural-history-of-a-cohort-of-duchenne-muscular-dystrophy-children-seen-between-1998-and-2014-an-observational-study-from-south-india
#4
Ravinder-Jeet Singh, Mahadevappa Manjunath, Veeramani Preethish-Kumar, Kiran Polavarapu, Seena Vengalil, Priya T Thomas, Kandavel Thennarasu, Narayanappa Gayathri, Deepha Sekar, Saraswati Nashi, Atchayaram Nalini
BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy. There are no large studies describing its natural course from India. MATERIALS AND METHODS: Immunohistochemically/genetically confirmed DMD patients diagnosed between 1998 and 2014 were ambispectively included. The main aim was to study the natural course of motor milestones, i.e., age at onset of wheelchair status, bedbound state, and age at death, which were considered as primary outcome measures...
January 2018: Neurology India
https://www.readbyqxmd.com/read/29320561/%C3%AE-smooth-muscle-actin-is-not-a-marker-of-fibrogenic-cell-activity-in-skeletal-muscle-fibrosis
#5
Wanming Zhao, Xingyu Wang, Kai-Hui Sun, Lan Zhou
α-Smooth muscle actin (α-SMA) is used as a marker for a subset of activated fibrogenic cells, myofibroblasts, which are regarded as important effector cells of tissue fibrogenesis. We address whether α-SMA-expressing myofibroblasts are detectable in fibrotic muscles of mdx5cv mice, a mouse model for Duchenne muscular dystrophy (DMD), and whether the α-SMA expression correlates with the fibrogenic function of intramuscular fibrogenic cells. α-SMA immunostaining signal was not detected in collagen I (GFP)-expressing cells in fibrotic muscles of ColI-GFP/mdx5cv mice, but it was readily detected in smooth muscle cells lining intramuscular blood vessel walls...
2018: PloS One
https://www.readbyqxmd.com/read/29317080/effective-regeneration-of-dystrophic-muscle-using-autologous-ipsc-derived-progenitors-with-crispr-cas9-mediated-precise-correction
#6
Mackenzie Hagan, Muhammad Ashraf, Il-Man Kim, Neal L Weintraub, Yaoliang Tang
Duchenne muscular dystrophy (DMD) is a lethal muscle wasting disease caused by a lack of dystrophin, which eventually leads to apoptosis of muscle cells and impaired muscle contractility. Clustered Regularly Interspaced Short Palindromic Repeats/CRISPR associated protein 9 (CRISPR/Cas9) gene editing of induced pluripotent stem cells (IPSC) offers the potential to correct the DMD gene defect and create healthy IPSC for autologous cell transplantation without causing immune activation. However, IPSC carry a risk of tumor formation, which can potentially be mitigated by differentiation of IPSC into myogenic progenitor cells (MPC)...
January 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29316663/modulation-of-protein-quality-control-and-proteasome-to-autophagy-switch-in-immortalized-myoblasts-from-duchenne-muscular-dystrophy-patients
#7
Marion Wattin, Loïc Gaweda, Pascale Muller, Mathieu Baritaud, Charlotte Scholtes, Chloé Lozano, Kathrin Gieseler, Carole Kretz-Remy
The maintenance of proteome integrity is of primary importance in post-mitotic tissues such as muscle cells; thus, protein quality control mechanisms must be carefully regulated to ensure their optimal efficiency, a failure of these processes being associated with various muscular disorders. Duchenne muscular dystrophy (DMD) is one of the most common and severe forms of muscular dystrophies and is caused by mutations in the dystrophin gene. Protein quality control modulations have been diversely observed in degenerating muscles of patients suffering from DMD or in animal models of the disease...
January 7, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29306518/brain-related-comorbidities-in-boys-and-men-with-duchenne-muscular-dystrophy-a-descriptive-study
#8
Ruben G F Hendriksen, Johan S H Vles, Marlien W Aalbers, Richard F M Chin, Jos G M Hendriksen
AIM: Duchenne Muscular Dystrophy (DMD) is more than a muscle disease since there is a higher prevalence of neuropsychological comorbidities. Similarly, the prevalence of epilepsy is increased. Given the nowadays-increasing interest in brain-related comorbidities in DMD, this study aimed to evaluate the relationship between DMD, epilepsy, and associated neurodevelopmental disorders in an international sample of DMD patients. METHOD: Using a questionnaire-based study we investigated the occurrence of self/by-proxy reported brain-related comorbidities in a group of 228 DMD patients...
December 18, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29305755/creation-of-dystrophin-expressing-chimeric-cells-of-myoblast-origin-as-a-novel-stem-cell-based-therapy-for-duchenne-muscular-dystrophy
#9
M Siemionow, J Cwykiel, A Heydemann, J Garcia-Martinez, K Siemionow, E Szilagyi
Over the past decade different stem cell (SC) based approaches were tested to treat Duchenne Muscular Dystrophy (DMD), a lethal X-linked disorder caused by mutations in dystrophin gene. Despite research efforts, there is no curative therapy for DMD. Allogeneic SC therapies aim to restore dystrophin in the affected muscles; however, they are challenged by rejection and limited engraftment. Thus, there is a need to develop new more efficacious SC therapies. Chimeric Cells (CC), created via ex vivo fusion of donor and recipient cells, represent a promising therapeutic option for tissue regeneration and Vascularized Composite Allotransplantation (VCA) due to tolerogenic properties that eliminate the need for lifelong immunosuppression...
January 5, 2018: Stem Cell Reviews
https://www.readbyqxmd.com/read/29305608/disease-course-and-treatment-responses-in-children-with-relapsing-myelin-oligodendrocyte-glycoprotein-antibody-associated-disease
#10
Yael Hacohen, Yu Yi Wong, Christian Lechner, Maciej Jurynczyk, Sukhvir Wright, Bahadir Konuskan, Judith Kalser, Anne Lise Poulat, Helene Maurey, Esther Ganelin-Cohen, Evangeline Wassmer, Chery Hemingway, Rob Forsyth, Eva Maria Hennes, M Isabel Leite, Olga Ciccarelli, Banu Anlar, Rogier Hintzen, Romain Marignier, Jacqueline Palace, Matthias Baumann, Kevin Rostásy, Rinze Neuteboom, Kumaran Deiva, Ming Lim
Importance: Myelin oligodendrocyte glycoprotein antibodies (MOG-Abs) are consistently identified in a range of demyelinating disorders in adults and children. Current therapeutic strategies are largely center specific, and no treatments have been formally evaluated. Objective: To examine the clinical phenotypes, treatment responses, and outcomes of children with relapsing MOG-Ab-associated disease. Design, Setting, and Participants: This study prospectively collected demographic, clinical, and radiologic data from 102 patients from 8 countries of the EU Paediatric Demyelinating Disease Consortium from January 1, 2014, through December 31, 2016...
January 5, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29305136/low-level-dystrophin-expression-attenuating-the-dystrophinopathy-phenotype
#11
Megan A Waldrop, Felecia Gumienny, Saleh El Husayni, Diane E Frank, Robert B Weiss, Kevin M Flanigan
The reading frame rule suggests that Duchenne muscular dystrophy (DMD) results from DMD mutations causing an out-of-frame transcript, whereas the milder Becker muscular dystrophy results from mutations causing an in-frame transcript. However, predicted nonsense mutations may instead result in altered splicing and an in-frame transcript. Here we report a 10-year-old boy with a predicted nonsense mutation in exon 42 who had a 6-minute walk time of 157% of that of age matched DMD controls, characterized as intermediate muscular dystrophy...
November 23, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29304097/left-bundle-branch-block-in-duchenne-muscular-dystrophy-prevalence-genetic-relationship-and-prognosis
#12
Abdallah Fayssoil, Rabah Ben Yaou, Adam Ogna, Cendrine Chaffaut, France Leturcq, Olivier Nardi, Karim Wahbi, Denis Duboc, Frederic Lofaso, Helene Prigent, Bernard Clair, Pascal Crenn, Guillaume Nicolas, Pascal Laforet, Anthony Behin, Sylvie Chevret, David Orlikowski, Djillali Annane
BACKGROUND: Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. We designed this study to determine the prevalence of left bundle branch block (LBBB), whether there is a relationship between LBBB and genetic pattern, and to assess predictive factors for acute cardiac events and mortality in adult DMD patients. METHODS: We reviewed the charts of DMD followed at the Home Mechanical Ventilation Unit of the Raymond Poincare University Hospital...
2018: PloS One
https://www.readbyqxmd.com/read/29301272/skipping-multiple-exons-to-treat-dmd-promises-and-challenges
#13
REVIEW
Tejal Aslesh, Rika Maruyama, Toshifumi Yokota
Duchenne muscular dystrophy (DMD) is a lethal disorder caused by mutations in the DMD gene. Antisense-mediated exon-skipping is a promising therapeutic strategy that makes use of synthetic nucleic acids to skip frame-disrupting exon(s) and allows for short but functional protein expression by restoring the reading frame. In 2016, the U.S. Food and Drug Administration (FDA) approved eteplirsen, which skips DMD exon 51 and is applicable to approximately 13% of DMD patients. Multiple exon skipping, which is theoretically applicable to 80-90% of DMD patients in total, have been demonstrated in animal models, including dystrophic mice and dogs, using cocktail antisense oligonucleotides (AOs)...
January 2, 2018: Biomedicines
https://www.readbyqxmd.com/read/29298901/five-year-follow-up-and-outcomes-of-noninvasive-ventilation-in-subjects-with-neuromuscular-diseases
#14
Mi Ri Suh, Won Ah Choi, Dong Hyun Kim, Jang Woo Lee, Eun Young Kim, Seong-Woong Kang
INTRODUCTION: The purpose of this study was to investigate the 5-year outcomes of noninvasive ventilation (NIV) application in different neuromuscular disease (NMD) groups. METHODS: We categorized 180 subjects who had initiated NIV between March 2001 and August 2009 into 4 groups and followed them for > 5 y. The NIV maintenance rate and average duration, applying time, and forced vital capacity (FVC) were investigated at the time NIV was initiated and 5 y after NIV initiation in each group...
January 3, 2018: Respiratory Care
https://www.readbyqxmd.com/read/29286888/a-study-of-sexual-relationship-power-among-young-women-who-inject-drugs-and-their-sexual-partners
#15
Meghan D Morris, Martha E Montgomery, Alya Briceno, Jennifer L Evans, Erin V W Andrew, Kimberly Page, Judith A Hahn
BACKGROUND: To date, research applying the Sexual Relationship Power Scale (SRPS) has been limited to sexual risk behaviors. OBJECTIVE: We measured levels of sexual relationship power and examined associations between sexual relationship power and injecting and sexual behaviors that place women at increased risk for blood borne infections. METHODS: Using data from a cross-sectional study of young women who inject drugs (WWID) in San Francisco, USA, logistic regression analysis identified independent associations between SRPS and subscale scores (relationship control [RC] and decision making dominance [DMD]) and injecting and sexual behaviors...
December 29, 2017: Substance Use & Misuse
https://www.readbyqxmd.com/read/29278896/long-term-pulmonary-function-in-duchenne-muscular-dystrophy-comparison-of-eteplirsen-treated-patients-to-natural-history
#16
T Bernard Kinane, Oscar H Mayer, Petra W Duda, Linda P Lowes, Stephanie L Moody, Jerry R Mendell
BACKGROUND: Duchenne muscular dystrophy (DMD) is a rare, degenerative, X-linked genetic disease that results in progressive muscle loss and premature death, most commonly from respiratory or cardiac failure. DMD is primarily caused by whole exon deletions, resulting in a shift of the dystrophin mRNA reading frame that prevents production of functional dystrophin protein. Eteplirsen, a phosphorodiamidate morpholino oligomer (PMO), is designed to skip exon 51, restore the reading frame, and induce production of internally shortened dystrophin in patients with mutations amenable to such treatment...
December 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29278724/perturbation-of-muscle-metabolism-in-patients-with-muscular-dystrophy-in-early-or-acute-phase-of-disease-in-vitro-high-resolution-nmr-spectroscopy-based-analysis
#17
Niraj Kumar Srivastava, Ramakant Yadav, Somnath Mukherjee, Neeraj Sinha
BACKGROUND: Muscular dystrophy is an inherited muscle disease, characterized by progressive muscle wasting and weakness of variable distribution and severity. METHODS: In vitro, high-resolution proton nuclear magnetic resonance (NMR) spectroscopy based analysis was performed on perchloric acid (PCA) extract of muscle specimens of patients suffering from various types of muscular dystrophies to identify alteration in hydrophilic low-molecular weight substances (aqueous metabolites) as compared to muscle of control subjects as well as in between the types of muscular dystrophy...
December 23, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29276972/identification-of-plasma-interleukins-as-biomarkers-for-deflazacort-and-omega-3-based-duchenne-muscular-dystrophy-therapy
#18
Samara Camaçari de Carvalho, Cintia Yuri Matsumura, Humberto Santo Neto, Maria Julia Marques
Duchenne muscular dystrophy (DMD) is a progressive and fatal disease, characterized by the absence of dystrophin, muscle degeneration and cardiorespiratory failure. Creatine kinase is the classic marker to screen for DMD. However, other markers are needed to follow disease progression and to evaluate the response to therapy over longer periods. In the present study, we aim to identify interleukins in the plasma of the mdx mice model of DMD that could serve as biomarkers to monitor dystrophy progression, at distinct stages of the disease (1, 3 and 8 months of age)...
December 22, 2017: Cytokine
https://www.readbyqxmd.com/read/29275006/altered-myofilament-structure-and-function-in-dogs-with-duchenne-muscular-dystrophy-cardiomyopathy
#19
Younss Ait Mou, Alain Lacampagne, Thomas Irving, Valérie Scheuermann, Stéphane Blot, Bijan Ghaleh, Pieter P de Tombe, Olivier Cazorla
AIM: Duchenne Muscular Dystrophy (DMD) is associated with progressive depressed left ventricular (LV) function. However, DMD effects on myofilament structure and function are poorly understood. Golden Retriever Muscular Dystrophy (GRMD) is a dog model of DMD recapitulating the human form of DMD. OBJECTIVE: The objective of this study is to evaluate myofilament structure and function alterations in GRMD model with spontaneous cardiac failure. METHODS AND RESULTS: We have employed synchrotron X-rays diffraction to evaluate myofilament lattice spacing at various sarcomere lengths (SL) on permeabilized LV myocardium...
December 21, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29273555/novel-noncontiguous-duplications-identified-with-a-comprehensive-mutation-analysis-in-the-dmd-gene-by-dmd-gene-targeted-sequencing
#20
Yan Xu, Huanhuan Wang, Bing Xiao, Wei Wei, Yu Liu, Hui Ye, Xiao-Min Ying, Ying-Wei Chen, Xiao-Qing Liu, Xing Ji, Yu Sun
Genomic rearrangements, such as intragenic deletions and duplications, are the most prevalent types of mutation in the DMD gene, and DMD mutations underlie Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Using multiplex ligation dependent probe amplification (MLPA) and DMD gene-targeted sequencing, we performed a molecular characterization of two cases of complex noncontiguous duplication rearrangements that involved inverted duplications. The breakpoint sequences were analyzed to investigate the mechanisms of the rearrangement...
December 19, 2017: Gene
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