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dystrophy duchenne

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https://www.readbyqxmd.com/read/29130550/-1-h-nmrs-of-carnosine-combined-with-31-p-nmrs-to-better-characterize-skeletal-muscle-ph-dysregulation-in-duchenne-muscular-dystrophy
#1
Harmen Reyngoudt, Suna Turk, Pierre G Carlier
In recent years, quantitative nuclear magnetic resonance imaging and spectroscopy (NMRI and NMRS) have been used more systematically as outcome measures in natural history and clinical trial studies for Duchenne muscular dystrophy (DMD). Whereas most of these studies have emphasized the evaluation of the fat fraction as an assessment for disease severity, less focus has been placed on metabolic indices measured by NMRS. (31) P NMRS in DMD reveals an alkaline inorganic phosphate (Pi ) pool, originating from either leaky dystrophic myocytes or an increased interstitial space...
November 12, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/29127875/derivation-of-the-duchenne-muscular-dystrophy-patient-derived-induced-pluripotent-stem-cell-line-lacking-dmd-exons-49-and-50-ccmi001dmd-a-3-%C3%A2-49-%C3%A2-50
#2
Gabriella Spaltro, Vera Vigorelli, Federica Casalnuovo, Pietro Spinelli, Elisa Castiglioni, Davide Rovina, Stefania Paganini, Marina Di Segni, Patrizia Nigro, Cristina Gervasini, Giulio Pompilio, Aoife Gowran
Duchenne muscular dystrophy (DMD) is caused by abnormalities in the dystrophin gene and is clinically characterised by childhood muscle degeneration and cardiomyopathy. We produced an induced pluripotent stem cell line from a DMD patient's dermal fibroblasts by electroporation with episomal vectors containing: hL-MYC, hLIN28, hSOX2, hKLF4, hOCT3/4. The resultant DMD iPSC line (CCMi001DMD-A-3) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal...
October 28, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29127365/the-primary-cilium-is-necessary-for-the-differentiation-and-the-maintenance-of-human-adipose-progenitors-into-myofibroblasts
#3
N Arrighi, K Lypovetska, C Moratal, S Giorgetti-Peraldi, C A Dechesne, C Dani, P Peraldi
The primary cilium is an organelle, present at the cell surface, with various biological functions. We, and others, have shown that it plays a role in the differentiation of adipose progenitors (APs) into adipocytes. APs can also differentiate into myofibroblasts when treated with TGF-β1. Several components of the TGF-β1 pathway are located within the cilium suggesting a function for this organelle in AP myofibrogenesis. We studied differentiation of APs into myofibroblasts in two human models: APs of the adipose tissue (aAPs) and APs resident in the skeletal muscles (mAPs)...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29125504/clinical-outcomes-in-duchenne-muscular-dystrophy-a-study-of-5345-patients-from-the-treat-nmd-dmd-global-database
#4
Zaïda Koeks, Catherine L Bladen, David Salgado, Erik van Zwet, Oksana Pogoryelova, Grace McMacken, Soledad Monges, Maria Foncuberta, Kyriaki Kekou, Konstantina Kosma, Hugh Dawkins, Leanne Lamont, Matthew I Bellgard, Anna J Roy, Teodora Chamova, Velina Guergueltcheva, Sophelia Chan, Lawrence Korngut, Craig Campbell, Yi Dai, Jen Wang, Nina Barišić, Petr Brabec, Jaana Lähdetie, Maggie C Walter, Olivia Schreiber-Katz, Veronika Karcagi, Marta Garami, Agnes Herczegfalvi, Venkatarman Viswanathan, Farhad Bayat, Filippo Buccella, Alessandra Ferlini, En Kimura, Janneke C van den Bergen, Miriam Rodrigues, Richard Roxburgh, Anna Lusakowska, Anna Kostera-Pruszczyk, Rosário Santos, Elena Neagu, Svetlana Artemieva, Vedrana Milic Rasic, Dina Vojinovic, Manuel Posada, Clemens Bloetzer, Andrea Klein, Jordi Díaz-Manera, Eduard Gallardo, A Ayşe Karaduman, Tunca Oznur, Haluk Topaloğlu, Rasha El Sherif, Angela Stringer, Andriy V Shatillo, Ann S Martin, Holly L Peay, Jan Kirschner, Kevin M Flanigan, Volker Straub, Kate Bushby, Christophe Béroud, Jan J Verschuuren, Hanns Lochmüller
BACKGROUND: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. In addition, as average life-expectancy increases, reliable data is required on clinical progression in the older DMD population. OBJECTIVE: To determine the effects of corticosteroids on major clinical outcomes of DMD in a large multinational cohort of genetically confirmed DMD patients...
November 10, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29125503/patient-preferences-for-treatments-of%C3%A2-neuromuscular-diseases-a-systematic-literature-review
#5
Erik Landfeldt, Josefin Edström, Peter Lindgren, Hanns Lochmüller
BACKGROUND: Treatment decisions of neuromuscular diseases involve weighing clinical benefits and risks, as well as impact on patient social life, work status, other activities of daily living, and health-related quality of life. OBJECTIVE: To conduct a systemic literature review of patient preferences for treatments of neuromuscular diseases. METHODS: We searched Embase, Web of Science, and PubMed for full-text articles reporting results from studies of patient preferences for treatments of neuromuscular diseases...
November 8, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29124971/motor-learning-from-virtual-reality-to-natural-environments-in-individuals-with-duchenne-muscular-dystrophy
#6
Virgínia Helena Quadrado, Talita Dias da Silva, Francis Meire Favero, James Tonks, Thais Massetti, Carlos Bandeira de Mello Monteiro
PURPOSE: To examine whether performance improvements in the virtual environment generalize to the natural environment. STUDY DESIGN: we had 64 individuals, 32 of which were individuals with DMD and 32 were typically developing individuals. METHODS: The groups practiced two coincidence timing tasks. In the more tangible button-press task, the individuals were required to 'intercept' a falling virtual object at the moment it reached the interception point by pressing a key on the computer...
November 10, 2017: Disability and Rehabilitation. Assistive Technology
https://www.readbyqxmd.com/read/29123500/efficacy-and-the-safety-of-granulocyte-colony-stimulating-factor-treatment-in-patients-with-muscular-dystrophy-a-non-randomized-clinical-trial
#7
Dorota Sienkiewicz, Wojciech Kułak, Bożena Okurowska-Zawada, Grażyna Paszko-Patej, Janusz Wojtkowski, Karolina Sochoń, Anna Kalinowska, Kamila Okulczyk, Jerzy Sienkiewicz, Edward McEachern
Introduction: The current standard treatment for patients with Duchenne muscular dystrophy (DMD) involves corticosteroids. Granulocyte colony-stimulating factor (G-CSF) induces the proliferation of satellite cells and myoblasts and, in turn, muscle regeneration. Beneficial effects of G-CSF were also described for skeletal muscle disorders. Aim: We assessed the safety and effects of using G-CSF to promote muscle strength in patients with DMD. Materials and methods: Inclusion criteria were as follows: patients aged 5-15 years with diagnosed with DMD confirmed by genetic test or biopsy...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29121992/a-mouse-anti-myostatin-antibody-increases-muscle-mass-and-improves-muscle-strength-and-contractility-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy-and-its-humanized-equivalent-domagrozumab-pf-06252616-increases-muscle-volume-in-cynomolgus-monkeys
#8
Michael St Andre, Mark Johnson, Prashant N Bansal, Jeremy Wellen, Andrew Robertson, Alan Opsahl, Peter M Burch, Peter Bialek, Carl Morris, Jane Owens
BACKGROUND: The treatments currently approved for Duchenne muscular dystrophy (DMD), a progressive skeletal muscle wasting disease, address the needs of only a small proportion of patients resulting in an urgent need for therapies that benefit all patients regardless of the underlying mutation. Myostatin is a member of the transforming growth factor-β (TGF-β) family of ligands and is a negative regulator of skeletal muscle mass. Loss of myostatin has been shown to increase muscle mass and improve muscle function in both normal and dystrophic mice...
November 9, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/29119577/enhancing-human-aspects-of-care-with-young-people-with-muscular-dystrophy-results-from-a-participatory-qualitative-study-with-clinicians
#9
J Setchell, P Thille, T Abrams, L C McAdam, B Mistry, B E Gibson
BACKGROUND: Most research into clinical care of Duchenne or Becker dystrophinopathies (MD) has focused on slowing progressive muscular weakness and extending lifespan. Scarce attention has been paid to the "human" aspects of care such as psychosocial health, living a fulfilling life, or dealing with disability stigma. This study partnered with clinicians to identify and address local and systemic barriers to these human aspects of care. METHODS: We employed a participatory qualitative design at a multidisciplinary MD clinic using 2 methods: (a) ethnographic observations over a 6-month period of clinic visits of children with MD and families, involving 12 clinicians, and (b) 3 "dialogues" (2-way discussions) with these clinicians to collaboratively analyze practices and co-produce recommendations for change...
November 8, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/29105153/making-sense-of-antisense-oligonucleotides-a-narrative-review
#10
REVIEW
Neelam Goyal, Pushpa Narayanaswami
Synthetic nucleic acid sequences that bind to ribonucleic acid (RNA) through Watson-Crick base pairing are known as antisense oligonucleotides (ASOs) because they are complementary to "sense strand" nucleic acids. ASOs bind to selected sequences of RNA and regulate the expression of genes by several mechanisms depending on their chemical properties and targets. They can be used to restore deficient protein expression, reduce the expression of a toxic protein, modify functional effects of proteins or reduce toxicity of mutant proteins...
November 3, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29103911/cyclic-peptides-to-improve-delivery-and-exon-skipping-of-antisense-oligonucleotides-in-a-mouse-model-for-duchenne-muscular-dystrophy
#11
Silvana M G Jirka, Peter A C 't Hoen, Valeriano Diaz Parillas, Christa L Tanganyika-de Winter, Ruurd C Verheul, Begona Aguilera, Peter C de Visser, Annemieke M Aartsma-Rus
Duchenne muscular dystrophy (DMD) is a severe, progressive muscle wasting disorder caused by reading frame disrupting mutations in the DMD gene. Exon skipping is a therapeutic approach for DMD. It employs antisense oligonucleotides (AONs) to restore the disrupted open reading frame, allowing the production of shorter, but partly functional dystrophin protein as seen in less severely affected Becker muscular dystrophy patients. To be effective, AONs need to be delivered and effectively taken up by the target cells, which can be accomplished by the conjugation of tissue-homing peptides...
October 12, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29101272/illness-associated-muscle-weakness-in-dystroglycanopathies
#12
Courtney R Carlson, Steven D McGaughey, Jamie M Eskuri, Carrie M Stephan, M Bridget Zimmerman, Katherine D Mathews
OBJECTIVE: To describe the phenomenon of acute illness-associated weakness (AIAW) in patients with dystroglycanopathy (DG), determine the frequency of this phenomenon in DGs, and compare it to the frequency in Duchenne-Becker muscular dystrophy (DBMD). METHODS: Patients enrolled in a DG natural history study provided medical history, including major illnesses or hospitalizations, at enrollment and annually. We noted a recurring syndrome of profound transient weakness in the setting of febrile illness...
November 3, 2017: Neurology
https://www.readbyqxmd.com/read/29099477/parents-reactions-to-the-diagnosis-of-duchenne-muscular-dystrophy-associations-between-resolution-family-functioning-and-child-behavior-problems
#13
Roberto Baiocco, Paola Castelli Gattinara, Giorgia Cioccetti, Salvatore Ioverno
BACKGROUND: Duchenne muscular dystrophy (DMD) is the most frequent inherited form of muscular dystrophy during childhood. DMD is a severe and progressive disease. Children initially have no symptoms, but the diagnosis is often delayed until the child is about 5 years old. PURPOSE: Although few studies have addressed parent reactions to DMD, parental reactions to other serious childhood conditions have been documented. This study aims to understand the resolution styles that parents use in the context of their children with DMD...
December 2017: Journal of Nursing Research: JNR
https://www.readbyqxmd.com/read/29097503/ryanodine-channel-complex-stabilizer-compound-s48168-arm210-as-a-disease-modifier-in-dystrophin-deficient-mdx-mice-proof-of-concept-study-and-independent-validation-of-efficacy
#14
Roberta Francesca Capogrosso, Paola Mantuano, Kitipong Uaesoontrachoon, Anna Cozzoli, Arcangela Giustino, Todd Dow, Sadish Srinivassane, Marina Filipovic, Christina Bell, Jack Vandermeulen, Ada Maria Massari, Michela De Bellis, Elena Conte, Sabata Pierno, Giulia Maria Camerino, Antonella Liantonio, Kanneboyina Nagaraju, Annamaria De Luca
Muscle fibers lacking dystrophin undergo a long-term alteration of Ca(2+) homeostasis, partially caused by a leaky Ca(2+) release ryanodine (RyR) channel. S48168/ARM210, an RyR calcium release channel stabilizer (a Rycal compound), is expected to enhance the rebinding of calstabin to the RyR channel complex and possibly alleviate the pathologic Ca(2+) leakage in dystrophin-deficient skeletal and cardiac muscle. This study systematically investigated the effect of S48168/ARM210 on the phenotype of mdx mice by means of a first proof-of-concept, short (4 wk), phase 1 treatment, followed by a 12 wk treatment (phase 2) performed in parallel by 2 independent laboratories...
November 2, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29095865/beneficial-effects-of-high-dose-taurine-treatment-in-juvenile-dystrophic-mdx-mice-are-offset-by-growth-restriction
#15
Jessica R Terrill, Gavin J Pinniger, Keshav V Nair, Miranda D Grounds, Peter G Arthur
Duchenne Muscular Dystrophy (DMD) is a fatal muscle wasting disease manifested in young boys, for which there is no current cure. We have shown that the amino acid taurine is safe and effective at preventing dystropathology in the mdx mouse model for DMD. This study aimed to establish if treating growing mdx mice with a higher dose of taurine was more effective at improving strength and reducing inflammation and oxidative stress. Mice were treated with a dose of taurine estimated to be 16 g/kg/day, in drinking water from 1-6 weeks of age, after which in vivo and ex vivo muscle strength was assessed, as were measures of inflammation, oxidative stress and taurine metabolism...
2017: PloS One
https://www.readbyqxmd.com/read/29095413/segmental-pedicle-screw-instrumentation-and-fusion-only-to-l5-in-the-surgical-treatment-of-flaccid-neuromuscular-scoliosis
#16
Masashi Takaso, Toshiyuki Nakazawa, Takayuki Imura, Michinari Fukuda, Kazuhisa Takahashi, Seiji Ohtori
STUDY DESIGN: A retrospective cohort study was performed. OBJECTIVE: The purpose of this study was to determine the efficacy and safety of stopping segmental pedicle screw instrumentation constructs at L5 in the treatment of neuromuscular scoliosis. SUMMARY OF BACKGROUND DATA: Duchenne muscular dystrophy and spinal muscular atrophy are flaccid neuromuscular disorders in which gradual deterioration is the hallmark and have a lot of characteristics in common despite differences in etiology...
October 31, 2017: Spine
https://www.readbyqxmd.com/read/29093790/perioperative-evaluation-of-respiratory-muscle-strength-after-scoliosis-correction-in-patients-with-duchenne-muscular-dystrophy
#17
Wataru Saito, Kosuke Mizuno, Gen Inoue, Takayuki Imura, Toshiyuki Nakazawa, Masayuki Miyagi, Eiki Shirasawa, Kentaro Uchida, Masashi Takaso
Study Design: Retrospective cohort study. Purpose: To investigate the effect of spinal correction on respiratory muscle strength in patients with Duchenne muscular dystrophy (DMD). Overview of Literature: Several studies have reported that scoliosis correction in patients with DMD does not improve pulmonary function. In these studies, pulmonary function was evaluated using the traditional spirometric values of percent vital capacity (%VC) and percent forced vital capacity (%FVC)...
October 2017: Asian Spine Journal
https://www.readbyqxmd.com/read/29079012/a-historical-and-current-review-of-newborn-screening-for-neuromuscular-disorders-from-around-the-world-lessons-for-the-united-states
#18
REVIEW
Lainie Friedman Ross, Angus John Clarke
BACKGROUND: We aimed to review the history of newborn screening for three neuromuscular disorders (Duchenne muscular dystrophy, Pompe disease, and spinal muscular atrophy [SMA]) to determine best practices. METHODS: The history of newborn screening for Duchenne muscular dystrophy began in 1975 with the measurement of creatinine kinase on newborn male blood spots from two Midwestern hospitals in the United States. Over the next 40 years, ten programs were implemented around the globe although none currently remain...
August 25, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29078808/treatment-with-the-anti-il-6-receptor-antibody-attenuates-muscular-dystrophy-via-promoting-skeletal-muscle-regeneration-in-dystrophin-utrophin-deficient-mice
#19
Eiji Wada, Jun Tanihata, Akira Iwamura, Shin'ichi Takeda, Yukiko K Hayashi, Ryoichi Matsuda
BACKGROUND: Chronic increases in the levels of the inflammatory cytokine interleukin-6 (IL-6) in serum and skeletal muscle are thought to contribute to the progression of muscular dystrophy. Dystrophin/utrophin double-knockout (dKO) mice develop a more severe and progressive muscular dystrophy than the mdx mice, the most common murine model of Duchenne muscular dystrophy (DMD). In particular, dKO mice have smaller body sizes and muscle diameters, and develop progressive kyphosis and fibrosis in skeletal and cardiac muscles...
October 27, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/29076660/recent-developments-in-duchenne-muscular-dystrophy-facts-and-numbers
#20
EDITORIAL
Maggie C Walter, Peter Reilich
No abstract text is available yet for this article.
October 2017: Journal of Cachexia, Sarcopenia and Muscle
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