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Yoshiki Oitani, Akihiko Ishiyama, Motomichi Kosuga, Kentaro Iwasawa, Ayako Ogata, Fumiko Tanaka, Eri Takeshita, Yuko Shimizu-Motohashi, Hirofumi Komaki, Ichizo Nishino, Torayuki Okuyama, Masayuki Sasaki
BACKGROUND: Diagnosis of Pompe disease is sometimes challenging because it exhibits clinical similarities to muscular dystrophy. CASE: We describe a case of Becker muscular dystrophy (BMD) with a remarkable reduction in activity of the acid α-glucosidase (GAA) enzyme, caused by a combination of pathogenic mutation and polymorphism variants resulting in pseudodeficiency in GAA. The three-year-old boy demonstrated asymptomatic creatine kinase elevation. Neither exon deletion nor duplication was detected on multiplex ligation-dependent probe amplification (MLPA) of DMD...
May 16, 2018: Brain & Development
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
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
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
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
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
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
Takenori Shimo, Keisuke Tachibana, Satoshi Obika
Splice-switching oligonucleotides (SSOs) that can modulate RNA splicing are used for the treatment of many genetic disorders. To enhance the efficacy of modulating splicing, it is important to optimize SSOs with regard to target sites, GC content, melting temperature (Tm value), chemistries, and lengths. Thus, in vitro assay systems that allow for the rapid and simple screening of SSOs are essential for optimizing SSO design. In this study, we established a novel tri-chromatic reporter cell line for SSO screening...
2018: PloS One
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
Camille Scotté, Hilton B de Aguiar, Didier Marguet, Ellen Marie Green, Pascaline Bouzy, Sébastien Vergnole, Charles Peter Winlove, Nicholas Stone, Herve Rigneault
We experimentally implement a compressive Raman technology (CRT) that incorporates chemometric analysis directly into the spectrometer hardware by means of a digital micromirror device (DMD). The DMD is a programmable optical filter on which optimized binary filters are displayed. The latter are generated with an algorithm based on the Cramer-Rao lower bound. We com-pared the developed CRT microspectrometer with two conventional state-of-the-art Raman hyperspectral imaging systems on samples mimicking microcalcifications relevant for breast cancer diagnosis...
May 15, 2018: Analytical Chemistry
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
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
Ge Zhu, Xu-Ri Yao, Zhi-Bin Sun, Peng Qiu, Chao Wang, Guang-Jie Zhai, Qing Zhao
This paper reports an efficient method for sound extraction from high-speed light spot videos reconstructed from the coded light spot images captured with a low-speed camera based on compressive sensing, but at the expense of consuming time. The proposed method first gets the high-speed video of the light spot that is illuminated on the vibrating target caused by sound. Then the centroid of the light spot is used to recover the sound. Simulations of the proposed method are carried out and experimental results are demonstrated...
May 11, 2018: Sensors
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
Harneet Arora, Rebecca J Willcocks, Donovan J Lott, Ann T Harrington, Claudia R Senesac, Kirsten L Zilke, Michael J Daniels, Dandan Xu, Gihan I Tennekoon, Erika L Finanger, Barry S Russman, Richard S Finkel, William T Triplett, Barry J Byrne, Glenn A Walter, H Lee Sweeney, Krista Vandenborne
INTRODUCTION: Tests of ambulatory function are common clinical trial endpoints in Duchenne muscular dystrophy (DMD). The ImagingDMD study has generated a large data set using these tests, which can describe the contemporary natural history of DMD in 5-12.9 year olds. METHODS: 92 corticosteroid treated boys with DMD and 45 controls participated in this longitudinal study. Subjects performed the 6 minute walk test (6MWT) and timed function tests (TFTs: 10m walk/run, 4 stairs, supine to stand)...
May 9, 2018: Muscle & Nerve
Sang Hun Kim, Ji Ho Song, Ki Tae Jung
Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy that anesthesiologists can encounter in the operation room, and patients with DMD are susceptible to complications such as rhabdomyolysis, hyperkalemic cardiac arrest, and hyperthermia during the perioperative period. Acute onset of hyperkalemic cardiac arrest is a crisis because of the difficulty in achieving satisfactory resuscitation owing to the sustained hyperkalemia accompanied by rhabdomyolysis. We here report a case of a 13-year-old boy who had multiple leg fractures and other trauma after a car accident and who had suffered from acute hyperkalemic cardiac arrest...
May 9, 2018: Korean Journal of Anesthesiology
Abhinandan Batra, Ann Harrington, Donovan J Lott, Rebecca Willcocks, Claudia Senesac, William McGehee, Dandan Xu, Sunita Mathur, Michael J Daniels, William D Rooney, Sean C Forbes, William Triplett, Jasjit K Deol, Ishu Arpan, Roxanne Bendixen, Richard Finkel, Erika Finanger, Gihan Tennekoon, Barry Byrne, Barry Russman, Lee H Sweeney, Glenn Walter, Krista Vandenborne
OBJECTIVE: The main objective of this study were to examine the effect of disease on strength in two functionally important lower limb muscles over a period of two-years in children with Duchene Muscular Dystrophy (DMD). DESIGN: Seventy-Seven DMD children participated in this study. Plantar flexors (PF), knee extensors (KE) strength and performance on timed tests (Six-min walk, 4-stairs, 10m-walk, supine-up) was assessed yearly over two-years. Multivariate normal regression was used to assess changes in strength over time in the DMD group...
May 2, 2018: American Journal of Physical Medicine & Rehabilitation
Melissa L Rice, Brenda Wong, Paul S Horn, Michael B Yang
PURPOSE: To evaluate the development of cataracts or ocular hypertension in patients with Duchenne muscular dystrophy (DMD) on long-term GC treatment. METHODS: The medical records of DMD patients evaluated from 2010 to 2015 at a single center were reviewed retrospectively. The main outcome measures were prevalence of cataracts and ocular hypertension, age of first detection of cataract, time from initial steroid use to first detection of cataract, and relative risk of cataract development for deflazacort versus prednisone treatment...
May 4, 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Yuchen Nan, Yan-Jin Zhang
Phosphorodiamidate morpholino oligomers (PMO) are short single-stranded DNA analogs that are built upon a backbone of morpholine rings connected by phosphorodiamidate linkages. As uncharged nucleic acid analogs, PMO bind to complementary sequences of target mRNA by Watson-Crick base pairing to block protein translation through steric blockade. PMO interference of viral protein translation operates independently of RNase H. Meanwhile, PMO are resistant to a variety of enzymes present in biologic fluids, a characteristic that makes them highly suitable for in vivo applications...
2018: Frontiers in Microbiology
Taeyoung Koo, Ngoc B Lu-Nguyen, Alberto Malerba, Eunji Kim, Daesik Kim, Ornella Cappellari, Hee-Yeon Cho, George Dickson, Linda Popplewell, Jin-Soo Kim
Duchenne muscular dystrophy (DMD) is a fatal, X-linked muscle-wasting disease caused by mutations in the DMD gene. In 51% of DMD cases, a reading frame is disrupted because of deletion of several exons. Here, we show that CjCas9 derived from Campylobacter jejuni can be used as a gene-editing tool to correct an out-of-frame Dmd exon in Dmd knockout mice. Herein, we used Cas9 derived from S. pyogenes to generate Dmd knockout mice with a frameshift mutation in Dmd gene. Then, we expressed CjCas9, its single-guide RNA, and the EGFP gene in the tibialis anterior muscle of the Dmd knockout mice using an all-in-one adeno-associated virus (AAV) vector...
March 30, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
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