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becker dystrophy

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
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
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
Hong-Hao Yu, Heng Zhao, Yu-Bo Qing, Wei-Rong Pan, Bao-Yu Jia, Hong-Ye Zhao, Xing-Xu Huang, Hong-Jiang Wei
Dystrophinopathy, including Duchenne muscle dystrophy (DMD) and Becker muscle dystrophy (BMD) is an incurable X-linked hereditary muscle dystrophy caused by a mutation in the DMD gene in coding dystrophin. Advances in further understanding DMD/BMD for therapy are expected. Studies on mdx mice and dogs with muscle dystrophy provide limited insight into DMD disease mechanisms and therapeutic testing because of the different pathological manifestations. Miniature pigs share similar physiology and anatomy with humans and are thus an excellent animal model of human disease...
October 9, 2016: International Journal of Molecular Sciences
Anna Petryk, Lynda E Polgreen, Molly Grames, Dawn A Lowe, James S Hodges, Peter Karachunski
INTRODUCTION: Dystrophinopathies are X-linked muscle degenerative disorders that result in progressive muscle weakness complicated by bone loss. This study's goal was to evaluate feasibility and tolerability of whole body low intensity vibration (WBLIV) and its potential effects on muscle and bone in patients with Duchenne or Becker muscular dystrophy. METHODS: This 12-month pilot study included 5 patients (age 5.9-21.7 years) who used a low-intensity Marodyne LivMD plate vibrating at 30-90 Hz for 10 minutes/day for the first 6 months...
October 8, 2016: Muscle & Nerve
Ilene L Hollin, Caroline Young, Caroline Hanson, John F P Bridges, Holly Peay
OBJECTIVES: To provide a community-engaged process to inform the design of a stated-preferences experiment. The process involved integrating patients and caregivers of people with Duchenne/Becker muscular dystrophy, advocates, clinicians, and the sponsor in conceptualizing and developing a benefit-risk survey on the basis of phase III trial results. METHODS: Our community-engagement process for the development of a stated-preference survey included a set of five guiding principles with a foundation in the principles of community-engaged research...
September 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
Federica Trucco, Marina Pedemonte, Chiara Fiorillo, Paola Tacchetti, Giacomo Brisca, Claudio Bruno, Carlo Minetti
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant inherited disorder characterized by selective weakness of face and upper arms and girdle. Respiratory involvement in FSHD has been described mainly in the most severely affected patients. In this work we tested the respiratory function by spirometry in 12 patients affected by FSHD with onset before 18 years. Spirometry results were correlated with motor involvement and compared to aged matched group of Becker patients. Of note FSHD patients present a peculiar pattern characterized by a flat shape in flow-volume loop...
October 2016: Respiratory Medicine
Yali Zhang, Hong Wang, Xuexin Yu, Yanlin Xing, Ce Wang, Rong He
OBJECTIVE: To compare the changes in muscle enzyme between children with myocarditis and Duchene/Becker muscular dystrophy (DMD/BMD), and to seek the explanations for variation.
 METHODS: The retrospective analysis for 83 myocarditis children (myocarditis group) and 69 DMD/BMD children (DMD/BMD group), who were collected from Department of Pediatric of Shengjing Hospital affiliated to China Medical University since January 2008 to May 2015, was carried out. At the same time, 24 healthy children from the Department of Pediatric Development served as a control group...
September 28, 2016: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
Alice Todeschini, Francesca Gualandi, Cecilia Trabanelli, Annarita Armaroli, Anna Ravani, Marina Fanin, Silvia Rota, Luca Bello, Alessandra Ferlini, Elena Pegoraro, Alessandro Padovani, Massimiliano Filosto
We describe a 29-year-old patient who complained of left thigh muscle weakness since he was 23 and of moderate proximal weakness of both lower limbs with difficulty in climbing stairs and running since he was 27. Mild weakness of iliopsoas and quadriceps muscles and muscle atrophy of both the distal forearm and thigh were observed upon clinical examination. He harboured a novel c.1150-3C>G substitution in the DMD gene, affecting the intron 10 acceptor splice site and causing exon 11 skipping and an out-of-frame transcript...
October 2016: Neuromuscular Disorders: NMD
Koichi Kimura, Hiroyuki Morita, Akinori Nakamura, Katsu Takenaka, Masao Daimon
No abstract text is available yet for this article.
September 28, 2016: International Heart Journal
Anna Cho, Moon-Woo Seong, Byung Chan Lim, Hwa Jeen Lee, Jung Hye Byeon, Seung Soo Kim, Soo Yeon Kim, Sun Ah Choi, Ai-Lynn Wong, Jeongho Lee, Jon Soo Kim, Hye Won Ryu, Jin Sook Lee, Hunmin Kim, Hee Hwang, Ji Eun Choi, Ki Joong Kim, Young Seung Hwang, Ki Ho Hong, Seungman Park, Sung Im Cho, Seung Jun Lee, Hyunwoong Park, Soo Hyun Seo, Sung Sup Park, Jong Hee Chae
Introduction Duchenne and Becker muscular dystrophies (DMD and BMD) are allelic X-linked recessive muscle diseases caused by mutations in the large and complex dystrophin gene. Methods We analyzed the dystrophin gene in 507 Korean DMD/BMD patients by multiple ligation-dependent probe amplification (MLPA) and direct sequencing. Results Overall, 117 different deletions, 48 duplications, and 90 pathogenic sequence variations, including 30 novel variations, were identified. Deletions and duplications accounted for 65...
September 4, 2016: Muscle & Nerve
Luca Bello, Paola Campadello, Andrea Barp, Marina Fanin, Claudio Semplicini, Gianni Sorarù, Luca Caumo, Chiara Calore, Corrado Angelini, Elena Pegoraro
We performed a 1-year longitudinal study of Six Minute Walk Test (6MWT), North Star Ambulatory Assessment (NSAA), and timed function tests in Becker muscular dystrophy (BMD). Skeletal muscle dystrophin was quantified by immunoblot. We grouped deletions ending on exon 45 ("del 45-x", n = 28) or 51 ("del x-51", n = 10); isolated exon 48 deletion ("del 48", n = 10); and other mutations (n = 21). Only patients in the "del 45-x" or "other" groups became non-ambulatory (n = 5, log-rank p = n...
2016: Scientific Reports
Laura A Bertrand, Eric J Askeland, Katherine D Mathews, Bradley A Erickson, Christopher S Cooper
INTRODUCTION: Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy (BMD) are characterized by progressive muscle weakness and eventual loss of ambulation, and result from mutations in the dystrophin gene. Dystrophin is essential for skeletal muscle functioning but its role in smooth muscle function is not as well established. In a retrospective review, our group previously demonstrated that roughly half of these patients have at least one documented urologic diagnosis, most commonly being lower urinary tract symptoms (LUTS) and nephrolithiasis...
July 12, 2016: Journal of Pediatric Urology
Gulshara Abildinova, Zhanara Abdrakhmanova, Helena Tuchinsky, Elimelech Nesher, Albert Pinhasov, Leon Raskin
The routine detection of large and medium copy number variants (CNVs) is well established. Hemizygotic deletions or duplications in the large Duchenne muscular dystrophy DMD gene responsible for Duchenne and Becker muscular dystrophies are routinely identified using multiple ligation probe amplification and array-based comparative genomic hybridization. These methods only map deleted or duplicated exons, without providing the exact location of breakpoints. Commonly used methods for the detection of CNV breakpoints include long-range PCR and primer walking, their success being limited by the deletion size, GC content and presence of DNA repeats...
July 2016: Genetics and Molecular Biology
Makiko Nakamura, Osahiko Sunagawa, Ryo Hokama, Hiroyuki Tsuchiya, Takafumi Miyara, Yoji Taba, Takashi Touma
The patient was a 26 year-old man who was referred to our hospital in June 2011 because of severe heart failure. At age 24 years, he was found to have Becker muscular dystrophy. He received enalapril for cardiac dysfunction; however, he had worsening heart failure and was thus referred to our hospital. Echocardiography showed enlargement of the left ventricle, with a diastolic dimension of 77 mm and ejection fraction of 19%. His condition improved temporarily after an infusion of dobutamine and milrinone. He was then administered amiodarone for ventricular tachycardia; however, he subsequently developed hemoptysis...
September 28, 2016: International Heart Journal
Abdallah Fayssoil, Arnaud Lazarus, Karim Wahbi, Adam Ogna, Olivier Nardi, Frederic Lofaso, Bernard Clair, David Orlikowski, Djillali Annane
BACKGROUND/OBJECTIVES: Muscular dystrophies are genetic muscle disorders, in which heart involvement and chronic respiratory impairment affect survival. Cardiac conduction disturbances require implantable cardiac pacemaker. Implantable defibrillators may also be necessary to prevent cardiac sudden death. The safety and risk of cardiac electronic devices' implantation are not known in patients with muscular dystrophy. We aimed to assess the risks related to cardiac implantable electronic devices (CIED) in muscular dystrophy patients ventilated by tracheostomy...
November 1, 2016: International Journal of Cardiology
Mirella Meregalli, Simona Maciotta, Valentina Angeloni, Yvan Torrente
BACKGROUND: The dystrophin gene is the one of the largest described in human beings and mutations associated to this gene are responsible for Duchenne or Becker muscular dystrophies. CASE PRESENTATION: Here we describe a nucleotide substitution in the acceptor splice site of intron 26 (c.3604-1G > C) carried by a 6-year-old boy who presented with a history of progressive proximal muscle weakness and elevated serum creatine kinase levels. RNA analysis showed that the first two nucleotides of the mutated intron 26 (AC) were not recognized by the splicing machinery and a new splicing site was created within exon 27, generating a premature stop codon and avoiding protein translation...
2016: BMC Medical Genetics
Jennifer G Andrews, Aida Soim, Shree Pandya, Christina P Westfield, Emma Ciafaloni, Deborah J Fox, David J Birnkrant, Christopher M Cunniff, Daniel W Sheehan
BACKGROUND: Duchenne muscular dystrophy (DMD) causes progressive respiratory muscle weakness and decline in function, which can go undetected without monitoring. DMD respiratory care guidelines recommend scheduled respiratory assessments and use of respiratory assist devices. To determine the extent of adherence to these guidelines, we evaluated respiratory assessments and interventions among males with DMD in the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) from 2000 to 2011...
October 2016: Respiratory Care
Ulrich Lindberg, Nanna Witting, Stine Lundgaard Jørgensen, John Vissing, Egill Rostrup, Henrik Bo Wiberg Larsson, Christina Kruuse
Patients suffering from Becker muscular dystrophy (BMD) have dysfunctional dystrophin proteins and are deficient in neuronal nitric oxide synthase (nNOS) in muscles. This causes functional ischemia and contributes to muscle wasting. Similar functional ischemia may be present in brains of patients with BMD, who often have mild cognitive impairment, and nNOS may be important for the regulation of the microvascular circulation in the brain. We hypothesized that treatment with sildenafil, a phosphodiesterase type 5 inhibitor that potentiates nitric oxide responses, would augment both the blood oxygen level-dependent (BOLD) response and cerebral blood flow (CBF) in patients with BMD...
August 2, 2016: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
Caterina Tramonti, Bruno Rossi, Carmelo Chisari
Low-intensity aerobic training seems to have positive effects on muscle strength, endurance and fatigue in Becker Muscular Dystrophy (BMD) patients. We describe the case of a 33-year old BMD man, who performed a four-week aerobic training. Extensive functional evaluations were executed to monitor the efficacy of the rehabilitative treatment. Results evidenced an increased force exertion and an improvement in muscle contraction during sustained exercise. An improvement of walk velocity, together with agility, endurance capacity and oxygen consumption during exercise was observed...
June 13, 2016: European Journal of Translational Myology
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