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Duchenne muscular dystrophy

Kate Traynor
No abstract text is available yet for this article.
November 1, 2016: American Journal of Health-system Pharmacy: AJHP
Sally Lindsay, Laura McAdam, Tania Mahendiran
BACKGROUND: Young men with Duchenne muscular dystrophy (DMD) live into adulthood and need specialized care. However, services for adults are fragmented. We know little about young men's experiences, their parents, and clinicians who support them as they transition to adult care. OBJECTIVE: To explore the enablers and barriers of clinicians, young men, and parents as they transition from an adult DMD clinic within a pediatric hospital to an adult health facility...
October 11, 2016: Disability and Health Journal
Jeffrey J Widrick, Matthew Alexander, Benjamin Sanchez, Devin Gibbs, Genri Kawahara, Alan Beggs, Louis Kunkel
Sapje zebrafish lack the protein dystrophin and are the smallest vertebrate model of Duchenne muscular dystrophy (DMD). Their small size makes them ideal for large-scale drug discovery screens. However, the extent that sapje mimic the muscle dysfunction of higher vertebrate models of DMD is unclear. We used an optical birefringence assay to differentiate affected dystrophic sapje larvae from their unaffected siblings and then studied trunk muscle contractility at 4-7 days post fertilization. Preparation cross-sectional area (CSA) was similar for affected and unaffected larvae, yet tetanic forces of affected preparations were only 30-60% of normal...
October 7, 2016: Physiological Genomics
Amanda Faria Assoni, Giuliana Castello, Marcos Valadares, Melinda Beccari, Juliana Gomes, Mayra Pelatti, Miguel Mitne-Neto, Valdemir Melechco Carvalho, Mayana Zatz
Duchenne muscular dystrophy (DMD) is a lethal X-linked disorder caused by null mutations in the dystrophin gene. Although the primary defect is the deficiency of muscle dystrophin, secondary events, including chronic inflammation, fibrosis and muscle regeneration failure are thought to actively contribute to disease progression. Despite several advances, there is still no effective therapy for DMD. Therefore, the potential regenerative capacities, as well as immune-privileged properties of Mesenchymal Stromal Cells (MSCs), have been the focus of intense investigation in different animal models aiming the treatment of these disorders...
October 20, 2016: Stem Cells and Development
Thomas McCaffrey, Michela Guglieri, Alexander P Murphy, Katherine Md Bushby, Anna Johnson, John P Bourke
Introduction The significance of abnormal cardiac measures in asymptomatic females who harbor dystrophin gene mutations is controversial. Methods Echo-measures of ventricular function were compared with published norms in a cross-sectional study of 130 (age 39 ± 15.7 years) 'carriers' of Duchenne or Becker muscular dystrophy (DBMD). Correlations between cardiomyopathy (CM) and mutation, CK levels, age, and muscle symptoms were investigated. Results Depending on definition, CM prevalence was 3-33%. Ejection fraction (Simpson) was < 55% in 9 (13%) and < 40% in 2 (2...
October 19, 2016: Muscle & Nerve
Tara M Newcomb, Kevin M Flanigan
The cloning of the DMD gene, and the identifications of mutations in it as the cause of Duchenne muscular dystrophy (DMD), makes a compelling story that is aptly told elsewhere.(1) The locus-the largest in the human genome-consists of 79 exons, distributed over 2.5 million nucleotides on the X chromosome, which are assembled into a complementary DNA (cDNA) of around 14 kb encoding the predominant muscle isoform of the dystrophin protein.(2) The size of the gene, and the number of exons, had historically made mutation analysis challenging...
October 2016: Neurology. Genetics
Lauren Bogue, Sindhu Ramchandren
Carrier risk assessment for Duchenne muscular dystrophy (DMD) is necessary to counsel women at risks of developing cardiomyopathy and having a child with DMD. Comprehensive molecular testing for dystrophin gene mutations has only been available since 2003(1); women counseled earlier have outdated risk assessments. We present a 5-generation family in whom results of familial mutation testing for DMD newly identified 10 obligate carriers and 28 women at risk to be carriers for DMD.
October 2016: Neurology. Genetics
Cristina Dos Santos Cardoso de Sá, Iara Kristine Fagundes, Talita Bastos Araújo, Acary Souza Bulle Oliveira, Francis Meire Fávero
The aim was to describe trunk control in ambulant and non-ambulant patients with Duchenne muscular dystrophy (DMD). We conducted a cross-sectional analysis of a sample of 50 DMD patients, (M age = 16.7 years) who underwent the Segmental Assessment of Trunk Control (SATCo). A seven-level scale of trunk control was used (1: head control only; 7: control of entire trunk while unsupported). Static, active and reactive posture control were evaluated in ambulant and non-ambulant patients. Inter-rater reliability for all assessments was evaluated by calculating the kappa coefficient...
October 2016: Arquivos de Neuro-psiquiatria
Caroline E Brun, Nicolas A Dumont
No abstract text is available yet for this article.
October 2016: Médecine Sciences: M/S
James E Archer, Adrian C Gardner, Helen P Roper, Ashish A Chikermane, Andrew J Tatman
This study summaries the current management of scoliosis in patients with Duchenne Muscular Dystrophy. A literature review of Medline was performed and the collected articles critically appraised. This literature is discussed to give an overview of the current management of scoliosis within Duchenne Muscular Dystrophy. Importantly, improvements in respiratory care, the use of steroids and improving surgical techniques have allowed patients to maintain quality of life and improved life expectancy in this patient group...
September 2016: J Spine Surg
Hitoshi Suzuki, Yoshitsugu Aoki, Toshiki Kameyama, Takashi Saito, Satoru Masuda, Jun Tanihata, Tetsuya Nagata, Akila Mayeda, Shin'ichi Takeda, Toshifumi Tsukahara
Duchenne muscular dystrophy (DMD) is a severe muscular disorder. It was reported that multiple exon skipping (MES), targeting exon 45-55 of the DMD gene, might improve patients' symptoms because patients who have a genomic deletion of all these exons showed very mild symptoms. Thus, exon 45-55 skipping treatments for DMD have been proposed as a potential clinical cure. Herein, we detected the expression of endogenous exons 44-56 connected mRNA transcript of the DMD using total RNAs derived from human normal skeletal muscle by reverse transcription polymerase chain reaction (RT-PCR), and identified a total of eight types of MES products around the hotspot...
October 13, 2016: International Journal of Molecular Sciences
Y M Zheng, W Z Li, Z X Wang, W Zhang, H Lv, J X Xiao, Y Yuan
OBJECTIVE: To report thigh muscle magnetic resonance imaging (MRI) tests of four Chinese patients with dystrophinopathy with edema changes in adductor longus muscles that mimics adductor enthesopathy. METHODS: Four boys, who were from four unrelated families and aged from 5 to 11 years, were investigated because of the clinical manifestations including myalgia or muscle weakness or the incidental findings of elevated serum creatine kinase levels, and were diagnosed with dystrophinopathy by gene test of Duchenne muscular dystrophy (DMD)...
October 18, 2016: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
Jingzi Zhong, Tiantian Xu, Gang Chen, Haixia Liao, Jiapeng Zhang, Dan Lan
Introduction Duchenne and Becker muscular dystrophies (DMD and BMD) are X-linked myopathies caused by mutations of the dystrophin gene. Methods Multiplex ligation-dependent probe amplification (MLPA) combined with next-generation sequencing (NGS) of the exons of the dystrophin gene were performed in 92 suspected DMD/BMD patients. Patients with negative results were subjected to additional muscle diseases panel tests. Results DNA rearrangements were detected in 65(70.65%) patients using MLPA. The deletions primarily clustered at exons 45-55, followed by exons 2-19...
October 17, 2016: Muscle & Nerve
Tahnee L Kennedy, Kristy Swiderski, Kate T Murphy, Stefan M Gehrig, Claire L Curl, Chanchal Chandramouli, Mark A Febbraio, Lea M D Delbridge, René Koopman, Gordon S Lynch
Duchenne muscular dystrophy is a severe and progressive striated muscle wasting disorder that leads to premature death from respiratory and/or cardiac failure. We have previously shown that treatment of young dystrophic mdx and dystrophin/utrophin null (dko) mice with BGP-15, a coinducer of heat shock protein 72, ameliorated the dystrophic pathology. We therefore tested the hypothesis that later-stage BGP-15 treatment would similarly benefit older mdx and dko mice when the dystrophic pathology was already well established...
October 14, 2016: American Journal of Pathology
Harish Petnikota, Vrisha Madhuri, Sangeet Gangadharan, Indira Agarwal, Belavendra Antonisamy
BACKGROUND: Muscular dystrophies are inherited myogenic disorders characterized by progressive muscle wasting and weakness of variable distribution and severity. They are a heterogeneous group characterized by variable degree of skeletal and cardiac muscle involvement. The most common and the most severe form of muscular dystrophy is DMD. Currently, there is no curative treatment for muscular dystrophies. Several drugs have been studied to retard the progression of the muscle weakness...
September 2016: Indian Journal of Orthopaedics
Luca Bello, Kevin M Flanigan, Robert B Weiss, Pietro Spitali, Annemieke Aartsma-Rus, Francesco Muntoni, Irina Zaharieva, Alessandra Ferlini, Eugenio Mercuri, Sylvie Tuffery-Giraud, Mireille Claustres, Volker Straub, Hanns Lochmüller, Andrea Barp, Sara Vianello, Elena Pegoraro, Jaya Punetha, Heather Gordish-Dressman, Mamta Giri, Craig M McDonald, Eric P Hoffman
The expressivity of Mendelian diseases can be influenced by factors independent from the pathogenic mutation: in Duchenne muscular dystrophy (DMD), for instance, age at loss of ambulation (LoA) varies between individuals whose DMD mutations all abolish dystrophin expression. This suggests the existence of trans-acting variants in modifier genes. Common single nucleotide polymorphisms (SNPs) in candidate genes (SPP1, encoding osteopontin, and LTBP4, encoding latent transforming growth factor β [TGFβ]-binding protein 4) have been established as DMD modifiers...
October 12, 2016: American Journal of Human Genetics
Roxanna M Bendixen, Amy Houtrow
PURPOSE: Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease with no known cure. We sought to update over 30 years of research reporting on the diagnostic delays in DMD. METHODS: Through personal interviews, this study qualitatively explored parents' experiences regarding receipt of the DMD diagnosis and the guidance for care provided. Thematic analysis identified themes and provided answers to the research questions being addressed. RESULTS: Four themes emerged: (a) Dismissive illustrates little consideration of parent concern in the diagnostic process; (b) Limited Knowledge describes misunderstandings about clinical signs, recommended screenings, and testing to achieve a diagnosis of DMD; (c) Careless Delivery reports on the manner in which the diagnosis was given; and (d) Lack of Guidance describes the follow-up that occurred after the diagnosis...
October 12, 2016: Journal of Pediatric Health Care
Nathalie Goemans, Marleen Vanden Hauwe, James Signorovitch, Elyse Swallow, Jinlin Song
BACKGROUND: Deficits in ambulatory function progress at heterogeneous rates among individuals with Duchenne muscular dystrophy (DMD). The resulting inherent variability in ambulatory outcomes has complicated the design of drug efficacy trials and clouded the interpretation of trial results. We developed a prediction model for 1-year change in the six minute walk distance (6MWD) among DMD patients, and compared its predictive value to that of commonly used prognostic factors (age, baseline 6MWD, and steroid use)...
2016: PloS One
Christian M Lo Cascio, Oliver Goetze, Tsogyal D Latshang, Sena Bluemel, Thomas Frauenfelder, Konrad E Bloch
BACKGROUND: In adult patients with Duchenne muscular dystrophy (DMD) life-threatening constipation has been reported. Since gastrointestinal function in DMD has not been rigorously studied we investigated objective and subjective manifestations of gastrointestinal disturbances in DMD patients. METHODS: In 33 patients with DMD, age 12-41 years, eating behavior and gastrointestinal symptoms were evaluated by questionnaires. Gastric emptying half time (T1/2) and oro-cecal transit time (OCTT) were evaluated by analyzing 13CO2 exhalation curves after ingestion of 13C labeled test meals...
2016: PloS One
J Patrick Gonzalez, Sergii Kyrychenko, Victoria Kyrychenko, Joel S Schneider, Celine J Granier, Eric Himelman, Kevin Lahey, Qingshi Zhao, Ghassan Yehia, Yuan-Xiang Tao, Mantu Bhaumik, Natalia Shirokova, Diego Fraidenraich
Duchenne muscular dystrophy (DMD) is characterized by the loss of the protein dystrophin, leading to muscle fragility, progressive weakening, and susceptibility to mechanical stress. Although dystrophin-negative mdx mouse models have classically been used to study DMD, phenotypes appear mild compared to patients. As a result, characterization of muscle pathology, especially in the heart, has proven difficult. We report that injection of mdx embryonic stem cells (ESCs) into Wild Type (WT) blastocysts produces adult mouse chimeras with severe DMD phenotypes in the heart and skeletal muscle...
October 13, 2016: Stem Cells
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