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Maria Siemionow, Joanna Cwykiel, Ahlke Heydemann, Jesus Garcia, Enza Marchese, Krzysztof Siemionow, Erzsebet Szilagyi
Duchenne Muscular Dystrophy (DMD) is a progressive and lethal disease caused by mutations of the dystrophin gene. Currently no cure exists. Stem cell therapies targeting DMD are challenged by limited engraftment and rejection despite the use of immunosuppression. There is an urgent need to introduce new stem cell-based therapies that exhibit low allogenic profiles and improved cell engraftment. In this proof-of-concept study, we develop and test a new human stem cell-based approach to increase engraftment, limit rejection, and restore dystrophin expression in the mdx/scid mouse model of DMD...
March 15, 2018: Stem Cell Reviews
Shree Pandya, Katherine A James, Christina Westfield, Shiny Thomas, Deborah J Fox, Emma Ciafaloni, Richard T Moxley
INTRODUCTION: As the DMD population ages, it is essential that we understand the late stage health profile and provide appropriate care to this emerging population. METHODS: A descriptive study to document the health profile of a cohort of adults with DMD using data from the Muscular Dystrophy Surveillance Tracking and Research network (MD STARnet). Data included information collected from Arizona, Colorado, Iowa, Georgia and 12 counties in western New York on individuals born since January 1982 and followed through December 2012...
March 15, 2018: Muscle & Nerve
Olivier Delalande, Anne-Elisabeth Molza, Raphael Dos Santos-Morais, Angélique Chéron, Émeline Pollet, Céline Raguenes-Nicol, Christophe Tascon, Emmanuel Giudice, Marine Guilbaud, Aurélie Nicolas, Arnaud Bondon, France Leturcq, Nicolas Férey, Marc Baaden, Javier Perez, Pierre Roblin, France Piétri-Rouxel, Jean-François Hubert, Mirjam Czjzek, Elisabeth Le Rumeur
Dystrophin, encoded by the DMD gene, is critical for maintaining plasma membrane integrity during muscle contraction events. Mutations in the DMD gene disrupting the reading frame prevent dystrophin production and result in the high severe Duchenne muscular dystrophy (DMD); in-frame internal deletions allow production of partly functional internally deleted dystrophin and result in the less severe Becker muscular dystrophy (BMD). Many known BMD deletions occur in dystrophin's central domain, generally considered to be a monotonous rod-shaped domain based on the knowledge of spectrin-family proteins...
March 13, 2018: Journal of Biological Chemistry
Masae Kato
Globally, genomics research is expected to enhance the health of patients with intractable diseases such as Duchenne muscular dystrophy (DMD). But how do patients perceive medical and scientific attempts at creating drugs and finding cure, and why? Since the 1990s, a number of clinical trials for patients of DMD have been organized. Among them are a gene therapy and exon skipping, and they indicate the possibility of finding therapies for DMD patients. Since 2011, Japanese medical institutions have been participating in Global Clinical Trials so that Japanese DMD patients can have access to them once developed...
April 2018: Anthropology & Medicine
Mary Wang, David J Birnkrant, Dennis M Super, Irwin B Jacobs, Robert C Bahler
Objective: To describe the natural history of cardiomyopathy in patients with Duchenne muscular dystrophy (DMD) who are receiving contemporary therapies. Methods: This is a single-institution retrospective cohort study of 57 patients aged >15 years with DMD. Serial digital echocardiograms were performed over a median follow-up of 8 years. Left ventricular dysfunction (LVD) was defined as shortening fraction (SF) <29% plus focal wall motion abnormalities...
2018: Open Heart
Paulus S Rommer, Uwe K Zettl
Multiple sclerosis (MS) is an immune-mediated and neurodegenerative disease with an unpredictable outcome. Immune-modulatory treatment aims at decreasing long-term disability. With the increasing number of treatment options, it is essential to fully digest the possible side effects of the available therapeutics and to monitor patients is essential. Areas covered: All approved disease-modifying drugs (DMD) for MS are discussed in this review. Mode of action, adverse effects, reported risks for infections and malignancies, and pregnancy related issues are discussed in the review...
March 12, 2018: Expert Opinion on Pharmacotherapy
Yuko Nakamura, Yoshiaki Saito, Norika Kubota, Wataru Matsumura, Chika Hosoda, Akiko Tamasaki-Kondo, Yoko Nishimura, Yoshihide Sunada, Masuyuki Fukada, Takako Ohno, Yoshihiro Maegaki, Masafumi Matsuo, Yasuko Tokita
AIM: To report on sleep hypercapnia in Becker muscular dystrophy (BMD) at earlier stages than ever recognized. SUBJECTS AND METHODS: This retrospective study examined nocturnal hypercapnia in six young Becker muscular dystrophy (BMD) patients with deletions of one or more exons of DMD gene. Clinical information, consecutive data on forced vital capacity (FVC%), forced expiratory volume in one second (FEV1%), peak expiratory flow (PEF%), peak cough flow (PCF), average PCO2 in all-night monitoring, and left ventricular ejection fraction (LVEF) were reviewed...
March 8, 2018: Brain & Development
A Nascimento Osorio, J Medina Cantillo, A Camacho Salas, M Madruga Garrido, J J Vilchez Padilla
INTRODUCTION: Duchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of approximately 0.5 cases per 10,000 male births. It is characterised by a progressive muscular weakness manifesting in early childhood, with the subsequent appearance of musculoskeletal, respiratory, and cardiac complications, causing disability, dependence, and premature death. Currently, DMD is mainly managed with multidisciplinary symptomatic treatment, with favourable results in terms of the progression of the disease...
March 8, 2018: Neurología: Publicación Oficial de la Sociedad Española de Neurología
Diana Ferraro, Valentina Camera, Eleonora Baldi, Veria Vacchiano, Erica Curti, Angelica Guareschi, Susanna Malagù, Sara Montepietra, Silvia Strumia, Mario Santangelo, Luisa Caniatti, Matteo Foschi, Alessandra Lugaresi, Franco Granella, Ilaria Pesci, Luisa Motti, Walter Neri, Paolo Immovilli, Enrico Montanari, Francesca Vitetta, Anna Maria Simone, Patrizia Sola
OBJECTIVE: The introduction of oral disease-modifying drugs (DMDs) in addition to the available, injectable, ones for Relapsing-Remitting Multiple Sclerosis (RRMS) could be expected to improve medication persistence due to a greater acceptability of the route of administration. Aim of the study was to compare the proportion of patients discontinuing injectable DMDs (interferon beta 1a/1b, pegylated interferon, glatiramer acetate) with those discontinuing oral DMDs (dimethylfumarate and teriflunomide) during an observation period of at least 12 months...
March 10, 2018: Current Medical Research and Opinion
Gilles Defer, Florian Le Caignec, Sophie Fedrizzi, François Montastruc, Damien Chevanne, Jean-Jacques Parienti, Laure Peyro-Saint-Paul
BACKGROUND: The reporting of adverse drug reactions (ADR) by patients represents an interesting challenge in the field of pharmacovigilance, but the reporting system is not adequately implemented in France. In 2015, only 20 MS patients in France reported ADR due to first-line disease-modifying drugs (DMD), while more than 3000 patients were initiated on DMD. The aim of this study is to validate a proof-of-concept as to whether the use of a mobile application (App) increases ADR reporting among patients with relapsing-remitting multiple sclerosis (RR-MS) receiving DMD...
March 9, 2018: Trials
Yu Yang, Ping He, Dong-Zhi Li
No abstract text is available yet for this article.
March 9, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Julien Fade, Estéban Perrotin, Jérôme Bobin
We propose an original concept of compressive sensing (CS) polarimetric imaging based on a digital micromirror (DMD) array and two single-pixel detectors, without using any polarizer. The polarimetric sensitivity of the proposed setup is due to the tiny difference in Fresnel's coefficients of reflecting mirrors, which is exploited here to form an original reconstruction problem including a CS problem and a source-separation task. We show that a two-step approach, tackling each problem successively, is outperformed by a dedicated combined reconstruction method, which is demonstrated in this paper and preferably implemented through a reweighted fast iterative shrinkage-thresholding algorithm...
March 1, 2018: Applied Optics
Daniel J Heath, James A Grant-Jacob, Robert W Eason, Ben Mills
Digital micromirror devices (DMDs) show great promise for use as intensity spatial light modulators. When used in conjunction with pulsed lasers of a timescale below the DMD pixel switching time, DMDs are generally only used as binary intensity masks (i.e., "on" or "off" intensity for each mask pixel). In this work, we show that by exploiting the numerical aperture of an optical system during the design of binary masks, near-continuous intensity control can be accessed, whilst still maintaining high-precision laser-machining resolution...
March 10, 2018: Applied Optics
Øivind Skare, Rolv T Lie, Øystein A Haaland, Miriam Gjerdevik, Julia Romanowska, Håkon K Gjessing, Astanand Jugessur
Background: Although both the mother's and father's alleles are present in the offspring, they may not operate at the same level. These parent-of-origin (PoO) effects have not yet been explored on the X chromosome, which motivated us to develop new methods for detecting such effects. Orofacial clefts (OFCs) exhibit sex-specific differences in prevalence and are examples of traits where a search for various types of effects on the X chromosome might be relevant. Materials and Methods: We upgraded our R-package Haplin to enable genome-wide analyses of PoO effects, as well as power simulations for different statistical models...
2018: Frontiers in Genetics
Toru Koda, Akiko Namba, Yuji Nakatsuji, Masaaki Niino, Yusei Miyazaki, Tomoyuki Sugimoto, Makoto Kinoshita, Kazushiro Takata, Kazuya Yamashita, Mikito Shimizu, Toshiyuki Fukazawa, Atsushi Kumanogoh, Hideki Mochizuki, Tatsusada Okuno
We previously demonstrated that patients with multiple sclerosis (MS) of high serum Sema4A levels are resistant to IFN-β therapy. To further elucidate the role of serum Sema4A as a biomarker for therapeutic stratification in MS patients, it is important to clarify the efficacy of other disease-modifying drugs (DMD) in those with high serum Sema4A levels. Thus, in this study we investigated whether fingolimod has beneficial effects on MS patients with high Sema4A levels. We retrospectively analyzed annualized relapse rate (ARR) and Expanded Disability Status Scale (EDSS) change in 56 relapsing-remitting multiple sclerosis (RRMS) patients who had been treated with fingolimod, including those who switched from IFN-β therapy...
2018: PloS One
Yana Fu, Wuying Zhou, Wei Li, Xiaolei Lin, Qi Dai
RATIONALE: The incidence of cornea disorders after laser peripheral iridotomy (LPI) is extremely low. However, cornea Descemet membrane detachment (DMD) combined with corneal decompensation after LPI could still occur. PATIENT CONCERNS: A 69-year-old Chinese woman presented with persistent widespread corneal edema and inferior bullous lesions in her right eye for half a year. She had undergone LPI in both eyes 10 years ago for a prophylactic treatment. The patient received a detailed examination of vivo corneal confocal microscopy and sept-source optical coherence tomography (SS-OCT)...
March 2018: Medicine (Baltimore)
Youngjun Na, Dong Hua Li, Yongjun Choi, Kyoung Hoon Kim, Sang Rak Lee
Objective: Two experiments were conducted to determine the effects of feeding level on nutrient digestibility and enteric methane (CH4) emissions in growing goats and Sika deer. Methods: Three growing male goats (initial BW of 22.4 ± 0.9 kg) and three growing male deer (initial BW of 20.2 ± 4.8 kg) were each allotted to a respiration-metabolism chamber for an adaptation period of 7 d and a data collection period of 3 d. An experimental diet was offered to each animal at one of three feeding levels (1...
March 2, 2018: Asian-Australasian Journal of Animal Sciences
William B Stoughton, Jianrong Li, Cindy Balog-Alvarez, Joe N Kornegay
Introduction Duchenne muscular dystrophy (DMD) and golden retriever muscular dystrophy (GRMD) are X-linked disorders caused by mutations in the DMD gene. Autophagy was recently identified as a secondary therapeutic target for DMD. We hypothesized that autophagy would be reduced in GRMD. Methods Autophagic gene and protein expression was assessed in normal and GRMD skeletal muscles and correlated with phenotypic biomarkers. Results Muscles were differentially affected. Autophagy gene levels were lower than normal in the GRMD cranial sartorius (CS) but similar in the vastus lateralis (VL)...
March 7, 2018: Muscle & Nerve
F J W C Schaafstra, D A van Doorn, J T Schonewille, E Roelfsema, C M Westermann, O Dansen, M Jacobs, J-Y Lee, E A Spronck, M C Blok, W H Hendriks
Exercise and physical training are known to affect gastrointestinal function and digestibility in horses and can lead to inaccurate estimates of nutrient and energy digestibility when markers are used. The effect of exercise on apparent nutrient digestibility and faecal recoveries of ADL and TiO2 was studied in six Welsh pony geldings subjected to either a low- (LI) or high-intensity (HI) exercise regime according to a cross-over design. Ponies performing LI exercise were walked once per day for 45 min in a horse walker (5 km/h) for 47 consecutive days...
March 7, 2018: Animal: An International Journal of Animal Bioscience
Sarah Morar Schneider, Vidya Sridhar, Amanda K Bettis, Heather Heath-Barnett, Cynthia J Balog-Alvarez, Lee-Jae Guo, Rachel Johnson, Scott Jaques, Stanislav Vitha, Alan C Glowcwski, Joe N Kornegay, Peter P Nghiem
PURPOSE: Metabolic dysfunction in Duchenne muscular dystrophy (DMD) is characterized by reduced glycolytic and oxidative enzymes, decreased and abnormal mitochondria, decreased ATP, and increased oxidative stress. We analyzed glucose metabolism as a potential disease biomarker in the genetically homologous golden retriever muscular dystrophy (GRMD) dog with molecular, biochemical, and in vivo imaging. PROCEDURES: Pelvic limb skeletal muscle and left ventricle tissue from the heart were analyzed by mRNA profiling, qPCR, western blotting, and immunofluorescence microscopy for the primary glucose transporter (GLUT4)...
March 5, 2018: Molecular Imaging and Biology: MIB: the Official Publication of the Academy of Molecular Imaging
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