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https://www.readbyqxmd.com/read/27871083/work-of-breathing-in-fixed-and-pressure-relief-continuous-positive-airway-pressure-c-flex%C3%A2-a-post-hoc-analysis
#1
Lukas Jerrentrup, Sebastian Canisius, Susanne Wilhelm, Karl Kesper, Thomas Ploch, Claus Vogelmeier, Timm Greulich, Heinrich F Becker
BACKGROUND: Expiratory pressure relief continuous positive airway pressure (pressure relief CPAP; C-Flex™) causes increases in inspiratory duty cycle and shortening of expiratory time. It has been suggested that these changes are caused by an increase in work of breathing. OBJECTIVES: We studied the effects of C-Flex on work of breathing and intrinsic positive end-expiratory pressure as compared to fixed CPAP. METHODS: Work of breathing was analyzed in 24 patients with obstructive sleep apnea during treatment with fixed CPAP and C-Flex with 3 different pressure relief settings in a randomized order during rapid-eye-movement (REM) and non-REM sleep...
November 22, 2016: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/27863875/knowledge-of-carrier-status-and-barriers-to-testing-among-mothers-of-sons-with-duchenne-or-becker-muscular-dystrophy
#2
Lauren Bogue, Holly Peay, Ann Martin, Ann Lucas, Sindhu Ramchandren
Our study objective was to survey female carriers for Duchenne and Becker muscular dystrophy to identify barriers to carrier testing and the impact of carrier risk knowledge on cardiac and reproductive health management. We surveyed women who have or had biological sons with Duchenne or Becker muscular dystrophy and were enrolled in the US DuchenneConnect patient registry, with questions assessing knowledge of carrier status and recurrence risk, knowledge of care standards for carriers, and barriers to testing...
September 16, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27854217/prevalence-and-genetic-profile-of-duchene-and-becker-muscular-dystrophy-in-puerto-rico
#3
Edwardo Ramos, José G Conde, Rafael Arias Berrios, Sherly Pardo, Omar Gómez, Manuel F Mas Rodríguez
BACKGROUND: Duchenne and Becker Muscular Dystrophy (DMD and BMD, respectively), are common forms of inherited muscle disease. Information regarding the epidemiology of these conditions, including genotype, is still sparse. OBJECTIVE: To establish the prevalence and genetic profile of DMD and BMD in Puerto Rico. METHODS: We collected data from medical records in all Muscular Dystrophy Association (MDA) clinics in Puerto Rico in order to estimate the prevalence of DMD and BMD and to describe the genotypic profile of these patients...
May 27, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27854211/n-terminal-%C3%AE-dystroglycan-%C3%AE-dg-n-a%C3%A2-potential-serum-biomarker-for-duchenne-muscular-dystrophy
#4
Kelly E Crowe, Guohong Shao, Kevin M Flanigan, Paul T Martin
BACKGROUND: Duchenne Muscular Dystrophy (DMD) is a severe, progressive, neuromuscular disorder of childhood. While a number of serum factors have been identified as potential biomarkers of DMD, none, as yet, are proteins within the dystrophin-associated glycoprotein (DAG) complex. OBJECTIVE: We have developed an immobilized serum ELISA assay to measure the expression of a constitutively cleaved and secreted component of the DAG complex, the N-terminal domain of α dystroglycan (αDG-N), and assayed relative expression in serum from muscular dystrophy patients and normal controls...
May 27, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27845387/adenoviral-vectors-encoding-crispr-cas9-multiplexes-rescue-dystrophin-synthesis-in-unselected-populations-of-dmd-muscle-cells
#5
Ignazio Maggio, Jin Liu, Josephine M Janssen, Xiaoyu Chen, Manuel A F V Gonçalves
Mutations disrupting the reading frame of the ~2.4 Mb dystrophin-encoding DMD gene cause a fatal X-linked muscle-wasting disorder called Duchenne muscular dystrophy (DMD). Genome editing based on paired RNA-guided nucleases (RGNs) from CRISPR/Cas9 systems has been proposed for permanently repairing faulty DMD loci. However, such multiplexing strategies require the development and testing of delivery systems capable of introducing the various gene editing tools into target cells. Here, we investigated the suitability of adenoviral vectors (AdVs) for multiplexed DMD editing by packaging in single vector particles expression units encoding the Streptococcus pyogenes Cas9 nuclease and sequence-specific gRNA pairs...
November 15, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27761893/cardiac-involvement-in-female-carriers-of-duchenne-or-becker-muscular-dystrophy
#6
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
https://www.readbyqxmd.com/read/27750387/genetic-analysis-of-the-dystrophin-gene-in-children-with-duchenne-and-becker-muscular-dystrophies
#7
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
https://www.readbyqxmd.com/read/27746500/retrospective-cohort-study-comparing-the-efficacy-of-prednisolone-and-deflazacort-in-children-with-muscular-dystrophy-a-6-years-experience-in-a-south-indian-teaching-hospital
#8
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
https://www.readbyqxmd.com/read/27735844/porcine-zygote-injection-with-cas9-sgrna-results-in-dmd-modified-pig-with-muscle-dystrophy
#9
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
https://www.readbyqxmd.com/read/27718512/feasibility-and-tolerability-of-low-intensity-whole-body-vibration-and-its-effects-on-muscle-function-and-bone-in-patients-with-dystrophinopathies-a-pilot-study
#10
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
https://www.readbyqxmd.com/read/27712702/developing-a-patient-centered-benefit-risk-survey-a-community-engaged-process
#11
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
https://www.readbyqxmd.com/read/27692152/respiratory-pattern-in-a-fshd-pediatric-population
#12
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
https://www.readbyqxmd.com/read/27640799/-comparison-analysis-of-muscle-enzymes-in-children-with-myocarditis-and-duchene-becker-muscular-dystrophy
#13
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
https://www.readbyqxmd.com/read/27616544/becker-muscular-dystrophy-due-to-an-intronic-splicing-mutation-inducing-a-dual-dystrophin-transcript
#14
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
https://www.readbyqxmd.com/read/27593540/therapeutic-strategy-for-heart-failure-in-becker-muscular-dystrophy
#15
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
https://www.readbyqxmd.com/read/27593222/consecutive-analysis-of-mutation-spectrum-in-the-dystrophin-gene-of-507-korean-boys-with-duchenne-becker-muscular-dystrophy-in-a-single-center
#16
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
https://www.readbyqxmd.com/read/27582364/functional-changes-in-becker-muscular-dystrophy-implications-for-clinical-trials-in-dystrophinopathies
#17
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
https://www.readbyqxmd.com/read/27567595/prevalence-and-bother-of-patient-reported-lower-urinary-tract-symptoms-in-the-muscular-dystrophies
#18
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
https://www.readbyqxmd.com/read/27560363/fast-detection-of-deletion-breakpoints-using-quantitative-pcr
#19
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
https://www.readbyqxmd.com/read/27535714/a-case-of-refractory-heart-failure-in-becker-muscular-dystrophy-improved-with-corticosteroid-therapy
#20
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
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