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becker dystrophy

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https://www.readbyqxmd.com/read/29790927/syntrophin-binds-directly-to-multiple-spectrin-like-repeats-in-dystrophin-and-mediates-binding-of-nnos-to-repeats-16-17
#1
Marvin E Adams, Guy L Odom, Min Jeong Kim, Jeffrey S Chamberlain, Stanley C Froehner
Mutation of the gene encoding dystrophin leads to Duchenne and Becker muscular dystrophy (DMD and BMD). Currently, dystrophin is thought to function primarily as a structural protein, connecting the muscle cell actin cytoskeleton to the extra-cellular matrix. In addition to this structural role, dystrophin also plays an important role as a scaffold that organizes an array of signaling proteins including sodium, potassium, and calcium channels, kinases, and nitric oxide synthase (nNOS). Many of these signaling proteins are linked to dystrophin via syntrophin, an adapter protein that is known to bind directly to two sites in the carboxyl terminal region of dystrophin...
May 22, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29778277/interpretation-of-acid-%C3%AE-glucosidase-activity-in-creatine-kinase-elevation-a-case-of-becker-muscular-dystrophy
#2
Yoshiki Oitani, Akihiko Ishiyama, Motomichi Kosuga, Kentaro Iwasawa, Ayako Ogata, Fumiko Tanaka, Eri Takeshita, Yuko Shimizu-Motohashi, Hirofumi Komaki, Ichizo Nishino, Torayuki Okuyama, Masayuki Sasaki
BACKGROUND: Diagnosis of Pompe disease is sometimes challenging because it exhibits clinical similarities to muscular dystrophy. CASE: We describe a case of Becker muscular dystrophy (BMD) with a remarkable reduction in activity of the acid α-glucosidase (GAA) enzyme, caused by a combination of pathogenic mutation and polymorphism variants resulting in pseudodeficiency in GAA. The three-year-old boy demonstrated asymptomatic creatine kinase elevation. Neither exon deletion nor duplication was detected on multiplex ligation-dependent probe amplification (MLPA) of DMD...
May 16, 2018: Brain & Development
https://www.readbyqxmd.com/read/29713767/monitoring-skeletal-muscle-chronic-fatty-degenerations-with-fast-t1-mapping
#3
Benjamin Marty, Bertrand Coppa, Pierre G Carlier
OBJECTIVES: To develop a fast, high-resolution T1-mapping sequence dedicated to skeletal muscle imaging, and to evaluate the potential of T1 as a robust and sensitive biomarker for the monitoring of chronic fatty degenerations in a dystrophic disease. METHODS: The magnetic resonance imaging sequence consisted of the acquisition of a 1,000-radial-spokes FLASH echo-train following magnetisation inversion, resulting in 10s scan time per slice. Temporal image series were reconstructed using compressed sensing and T1 maps were computed using Bloch simulations...
April 30, 2018: European Radiology
https://www.readbyqxmd.com/read/29703249/mir-708-5p-and-mir-34c-5p-are-involved-in-nnos-regulation-in-dystrophic-context
#4
Marine Guilbaud, Christel Gentil, Cécile Peccate, Elena Gargaun, Isabelle Holtzmann, Carole Gruszczynski, Sestina Falcone, Kamel Mamchaoui, Rabah Ben Yaou, France Leturcq, Laurence Jeanson-Leh, France Piétri-Rouxel
BACKGROUND: Duchenne (DMD) and Becker (BMD) muscular dystrophies are caused by mutations in the DMD gene coding for dystrophin, a protein being part of a large sarcolemmal protein scaffold that includes the neuronal nitric oxide synthase (nNOS). The nNOS was shown to play critical roles in a variety of muscle functions and alterations of its expression and location in dystrophic muscle fiber leads to an increase of the muscle fatigability. We previously revealed a decrease of nNOS expression in BMD patients all presenting a deletion of exons 45 to 55 in the DMD gene (BMDd45-55), impacting the nNOS binding site of dystrophin...
April 27, 2018: Skeletal Muscle
https://www.readbyqxmd.com/read/29682908/tracking-disease-progression-non-invasively-in-duchenne-and-becker-muscular-dystrophies
#5
Pietro Spitali, Kristina Hettne, Roula Tsonaka, Mohammed Charrout, Janneke van den Bergen, Zaïda Koeks, Hermien E Kan, Melissa T Hooijmans, Andreas Roos, Volker Straub, Francesco Muntoni, Cristina Al-Khalili-Szigyarto, Marleen J A Koel-Simmelink, Charlotte E Teunissen, Hanns Lochmüller, Erik H Niks, Annemieke Aartsma-Rus
BACKGROUND: Analysis of muscle biopsies allowed to characterize the pathophysiological changes of Duchenne and Becker muscular dystrophies (D/BMD) leading to the clinical phenotype. Muscle tissue is often investigated during interventional dose finding studies to show in situ proof of concept and pharmacodynamics effect of the tested drug. Less invasive readouts are needed to objectively monitor patients' health status, muscle quality, and response to treatment. The identification of serum biomarkers correlating with clinical function and able to anticipate functional scales is particularly needed for personalized patient management and to support drug development programs...
April 16, 2018: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/29669172/the-cardiorespiratory-response-and-physiological-determinants-of-the-assisted-6-minute-handbike-cycle-test-in-adult-males-with-muscular-dystrophy
#6
Christopher I Morse, Emma L Bostock, Harriet M Twiss, Laura H Kapp, Paul Orme, Matthew F Jacques
INTRODUCTION: Assisted six-minute cycle test (A6MCT) distance was assessed in adults with muscular dystrophy (MD). METHODS: Forty-eight males, including Duchenne (DMD), limb-girdle (LGMD), fascioscapulohumeral (FSHD), Becker (BMD), and non-MD (CTRL), completed handgrip strength (HGS), lung function (FEV1, FVC), body fat and biceps thickness assessments. During the A6MCT, ventilation (VE), oxygen uptake (VO2 ), carbon dioxide (VCO2 ) and heart rate (HR) were recorded...
April 18, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29652985/-mutation-analysis-and-prenatal-diagnosis-for-50-pedigrees-affected-with-duchenne-becker-muscular-dystrophy
#7
Huanzheng Li, Chenyang Xu, Yijian Mao, Jinfang Lu, Yanbao Xiang, Xueqin Xu, Shaohua Tang
OBJECTIVE: To establish individualized prenatal diagnosis program for families affected with Duchenne/Becker muscular dystrophy (DMD/BMD) and different clinical background using a variety of methods. METHODS: Multiplex ligation-dependent probe amplification (MLPA) was performed on 50 patients suspected for DMD/BMD. For single exon deletions of the DMD gene, PCR was used for validating the results. For those without any deletion or duplication, Sanger sequencing was used to screen for DMD gene mutations in the children and their mothers...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29623241/collective-statement-regarding-patient-access-to-approved-therapies-from-the-center-directors-of-parent-project-muscular-dystrophy-s-certified-duchenne-care-centers
#8
Cristian Ionita, Kathi Kinnett, Katherine Mathews
The dystrophinopathies (Duchenne [DMD] and Becker muscular dystrophy) are progressive diseases that until recently had no specific treatments. New FDA pathways to drug approval in rare diseases have resulted in a dramatic increase in the number of treatment trials for DMD and recently, two approved drugs. Health insurance policies for DMD products have been constructed with limited input from neuromuscular specialists directly involved in patient care and without patient input. These policies often reflect a lack of understanding of the disease, clinical population or the treatment...
March 15, 2018: PLoS Currents
https://www.readbyqxmd.com/read/29614690/characteristics-of-japanese-patients-with-becker-muscular-dystrophy-and-intermediate-muscular-dystrophy-in-a-japanese-national-registry-of-muscular-dystrophy-remudy-heterogeneity-and-clinical-variation
#9
Madoka Mori-Yoshimura, Satomi Mitsuhashi, Harumasa Nakamura, Hirofumi Komaki, Kanako Goto, Naohiro Yonemoto, Fumi Takeuchi, Yukiko K Hayashi, Miho Murata, Yuji Takahashi, Ichizo Nishino, Shin'ichi Takeda, En Kimura
BACKGROUND: Obtaining an adequate number of patients to conduct a natural history study for rare diseases such as Becker muscular dystrophy (BMD) is difficult. OBJECTIVES: The present study used data from Remudy, a national registry for neuromuscular diseases in Japan, to conduct a phenotypic analysis of BMD. METHODS: We analyzed Remudy data of participants with dystrophinopathy. All participants who were aged 17 and older and were ambulant at age 13 were included in this study...
March 26, 2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29610182/unusual-presentations-of-dystrophinopathies-in-childhood
#10
Nicholas M Allen, Alice Ewer, Vasiliki Nakou, Ele Konstantoulaki, Elizabeth Wraige, Vasantha Gowda, Heinz Jungbluth
X-linked recessive mutations in the dystrophin gene are one of the most common causes of inherited neuromuscular disorders in humans. Duchenne muscular dystrophy, the most common phenotype, and Becker muscular dystrophy are often recognizable by certain clinical features; however, less frequent presentations require a higher degree of suspicion. In this article, we describe a series of 6 children (4 boys, 2 girls) referred to a tertiary pediatric neuromuscular clinic for isolated elevated creatine kinase levels (range: 720-7000 IU/L) identified on initial assessment for otherwise unexplained transaminase elevations ( n = 2), a social communication disorder ( n = 3), and exertional myalgia and/or rhabdomyolysis ( n = 1)...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29588625/duchenne-and-becker-muscular-dystrophy-in-adolescents-current-perspectives
#11
REVIEW
Jennifer G Andrews, Richard A Wahl
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are life-limiting and progressive neuromuscular conditions with significant comorbidities, many of which manifest during adolescence. BMD is a milder presentation of the condition and much less prevalent than DMD, making it less represented in the literature, or more severely affected individuals with BMD may be subsumed into the DMD population using clinical cutoffs. Numerous consensus documents have been published on the clinical management of DMD, the most recent of which was released in 2010...
2018: Adolescent Health, Medicine and Therapeutics
https://www.readbyqxmd.com/read/29581631/dystrophin-exon-29-nonsense-mutations-cause-a-variably-mild-phenotype
#12
Rebecca S Moore, Sandya Tirupathi, Brian Herron, Andrew Sands, Patrick J Morrison
Background: Nonsense mutations in the dystrophin gene usually result in a severe Duchenne muscular dystrophy phenotype. Findings: We describe a 7-year-old boy with a rare pathogenic mutation in exon 29 c.3940C>T p.(Arg1314Ter) resulting in exon skipping, in turn rescuing the phenotype from a severe Duchenne type to a milder Becker muscular dystrophy type. No adults have been described with this mutation to date. Conclusions: Exon skipping of exon 29 results in a higher level of functional dystrophin...
September 2017: Ulster Medical Journal
https://www.readbyqxmd.com/read/29579078/a-novel-high-throughput-immunofluorescence-analysis-method-for-quantifying-dystrophin-intensity-in-entire-transverse-sections-of-duchenne-muscular-dystrophy-muscle-biopsy-samples
#13
Valentina Sardone, Matthew Ellis, Silvia Torelli, Lucy Feng, Darren Chambers, Deborah Eastwood, Caroline Sewry, Rahul Phadke, Jennifer E Morgan, Francesco Muntoni
Clinical trials using strategies aimed at inducing dystrophin expression in Duchenne muscular dystrophy (DMD) are underway or at advanced planning stage, including splice switching antisense oligonucleotides (AON), drugs to induce read-through of nonsense mutations and viral mediated gene therapy. In all these strategies, different dystrophin proteins, often internally deleted, are produced, similar to those found in patients with the milder DMD allelic variant, Becker muscular dystrophy (BMD). The primary biological endpoint of these trials is to induce functional dystrophin expression...
2018: PloS One
https://www.readbyqxmd.com/read/29578119/molecular-analysis-based-genetic-characterization-of-a-cohort-of-patients-with-duchenne-and-becker-muscular-dystrophy-in-eastern-china
#14
Hui-Hui Zhao, Xue-Ping Sun, Ming-Chao Shi, Yong-Xiang Yi, Hong Cheng, Xing-Xia Wang, Qing-Cheng Xu, Hong-Ming Ma, Hao-Quan Wu, Qing-Wen Jin, Qi Niu
Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-linked recessive neuromuscular disorders caused by mutations in dystrophin gene. Multiplex polymerase chain reaction (multiplex PCR) and multiplex ligation-dependent probe amplification (MLPA) are the most common methods for detecting dystrophin gene mutations. This study aimed to contrast the two methods and discern the genetic characterization of patients with DMD/BMD in Eastern China. Methods: We collected 121 probands, 64 mothers of probands, and 15 fetuses in our study...
April 5, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29556875/the-process-of-disclosure-mothers-experiences-of-communicating-x-linked-carrier-risk-information-to-at-risk-daughters
#15
Amy Goldman, Alison Metcalfe, Rhona MacLeod
When a boy is diagnosed with an X-linked condition such as Duchenne or Becker muscular dystrophy (D/BMD), the mother learns not only of her own potential carrier risk but also that of her daughters. Before the daughters are seen in the Genetics Clinic, responsibility for disclosing carrier risk information falls mainly to their mothers. We know little about if when and how these daughters are being told about their risk, and how mothers find the experience. Should we be doing more to help and support them? Using qualitative methods, six mothers known to the Manchester Centre for Genomic Medicine were interviewed about the disclosure of D/BMD carrier risk information to their daughters...
March 19, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29535188/dystrophin-s-central-domain-forms-a-complex-filament-that-becomes-disorganized-by-in-frame-deletions
#16
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 severe Duchenne muscular dystrophy (DMD); in-frame internal deletions allow production of partly functional internally deleted dystrophin and result in 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...
May 4, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29529586/cost-effectiveness-analysis-of-diagnosis-of-duchenne-becker-muscular-dystrophy-in-colombia
#17
Sara C Atehortúa, Luz H Lugo, Mateo Ceballos, Esteban Orozco, Paula A Castro, Juan C Arango, Heidi E Mateus
OBJECTIVES: To determine the cost-effectiveness ratio of different courses of action for the diagnosis of Duchenne or Becker muscular dystrophy in Colombia. METHODS: The cost-effectiveness analysis was performed from the Colombian health system perspective. Decision trees were constructed, and different courses of action were compared considering the following tests: immunohistochemistry (IHC), Western blot (WB), multiplex polymerase chain reaction, multiplex ligation-dependent probe amplification (MLPA), and the complete sequencing of the dystrophin gene...
March 9, 2018: Value in Health Regional Issues
https://www.readbyqxmd.com/read/29526935/medical-attitudes-survey-for-female-dystrophinopathy-carriers-in-japan
#18
Michio Kobayashi, Tomoyuki Hatakeyama, Masatoshi Ishizaki, Katsuhito Adachi, Mizuki Morita, Naohiro Yonemoto, Tsuyoshi Matsumura, Itaru Toyoshima, En Kimura
Objective This study attempted to clarify the current status of female dystrophinopathy carriers, including the numbers of patients, the status of genetic screening, the status of counseling, physicians' understanding, and barriers to registration. Methods We sent out questionnaires to 402 physicians registered in the Remudy dystrophinopathy registry. The total number of responses received was 130 (response rate: 32%). Result In total, 1,212 cases of Duchenne muscular dystrophy, 365 cases of Becker muscular dystrophy, and 132 cases of female dystrophinopathy with a confirmed genetic mutation were encountered, and genetic testing was performed in the mother in 137, 23, and 12 cases, respectively...
March 9, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29526517/identification-of-sleep-hypoventilation-in-young-individuals-with-becker-muscular-dystrophy-a-pilot-study
#19
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
https://www.readbyqxmd.com/read/29497338/adult-patient-with-becker-dystrophy-undergoing-orthopedic-surgery-an-anesthesia-challenge
#20
Masoud Parish, Haleh Farzin
Muscular dystrophies are considered to be a series of neuromuscular diseases with genetic causes and are characterized by progressive muscle weakness and degeneration of the skeletal muscle. The case of an adult man with Becker dystrophy referred for repair of the patella tendon tearing and patella fracture is described. He underwent successful surgery using total intravenous anesthesia without any complications.
2018: International Medical Case Reports Journal
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