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https://www.readbyqxmd.com/read/29305136/low-level-dystrophin-expression-attenuating-the-dystrophinopathy-phenotype
#1
Megan A Waldrop, Felecia Gumienny, Saleh El Husayni, Diane E Frank, Robert B Weiss, Kevin M Flanigan
The reading frame rule suggests that Duchenne muscular dystrophy (DMD) results from DMD mutations causing an out-of-frame transcript, whereas the milder Becker muscular dystrophy results from mutations causing an in-frame transcript. However, predicted nonsense mutations may instead result in altered splicing and an in-frame transcript. Here we report a 10-year-old boy with a predicted nonsense mutation in exon 42 who had a 6-minute walk time of 157% of that of age matched DMD controls, characterized as intermediate muscular dystrophy...
November 23, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29278724/perturbation-of-muscle-metabolism-in-patients-with-muscular-dystrophy-in-early-or-acute-phase-of-disease-in-vitro-high-resolution-nmr-spectroscopy-based-analysis
#2
Niraj Kumar Srivastava, Ramakant Yadav, Somnath Mukherjee, Neeraj Sinha
BACKGROUND: Muscular dystrophy is an inherited muscle disease, characterized by progressive muscle wasting and weakness of variable distribution and severity. METHODS: In vitro, high-resolution proton nuclear magnetic resonance (NMR) spectroscopy based analysis was performed on perchloric acid (PCA) extract of muscle specimens of patients suffering from various types of muscular dystrophies to identify alteration in hydrophilic low-molecular weight substances (aqueous metabolites) as compared to muscle of control subjects as well as in between the types of muscular dystrophy...
December 23, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29273555/novel-noncontiguous-duplications-identified-with-a-comprehensive-mutation-analysis-in-the-dmd-gene-by-dmd-gene-targeted-sequencing
#3
Yan Xu, Huanhuan Wang, Bing Xiao, Wei Wei, Yu Liu, Hui Ye, Xiao-Min Ying, Ying-Wei Chen, Xiao-Qing Liu, Xing Ji, Yu Sun
Genomic rearrangements, such as intragenic deletions and duplications, are the most prevalent types of mutation in the DMD gene, and DMD mutations underlie Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Using multiplex ligation dependent probe amplification (MLPA) and DMD gene-targeted sequencing, we performed a molecular characterization of two cases of complex noncontiguous duplication rearrangements that involved inverted duplications. The breakpoint sequences were analyzed to investigate the mechanisms of the rearrangement...
December 19, 2017: Gene
https://www.readbyqxmd.com/read/29260486/an-evidence-based-community-engaged-approach-to-develop-an-interactive-deliberation-tool-for-pediatric-neuromuscular-trials
#4
Rebecca R Moultrie, Megan A Lewis, Ryan S Paquin, Ann Lucas, Jill Jarecki, Holly L Peay
Duchenne/Becker muscular dystrophy (DBMD) and spinal muscular atrophy (SMA) are rare neuromuscular disorders that present challenges to therapeutic and clinical trial decision making. We developed an interactive, evidence-based online tool designed to encourage thoughtful deliberation of the pros and cons of trial participation and to inform meaningful discussions with healthcare providers. Prior research demonstrates the importance of tool availability at the time each family is considering trial participation, which may be prior to the informed consent process...
December 20, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29246534/next-generation-sequencing-approach-to-molecular-diagnosis-of-duchenne-muscular-dystrophy-identification-of-a-novel-mutation
#5
Reza Ebrahimzadeh-Vesal, Atieh Teymoori, Mohsen Aziminezhad, Forough Sadat Hosseini
Duchenne Muscular Dystrophy (DMD; MIM 310200) is one of the most common and severe type of hereditary muscular dystrophies. The disease is caused by mutations in the dystrophin gene. The dystrophin gene is associated with X-linked recessive Duchenne and Becker muscular dystrophy. This disease occurs almost exclusively in males. The clinical symptoms of muscle weakness usually begin at childhood. The main symptoms of this disorder are gradually muscular weakness. The affected patients have inability to standing up and walking...
December 12, 2017: Gene
https://www.readbyqxmd.com/read/29198644/the-diagnostic-usefulness-of-the-negative-electroretinogram
#6
C Fuente García, J J González-López, F J Muñoz-Negrete, G Rebolleda
The definition of the negative response of the full field electroretinogram is the presence of a b-wave with less amplitude than the a-wave (b/a ratio<1) in the combined response of cones and rods. The presence of this pattern reflects an alteration in the bipolar cells, the Müller cells, or in the transmission of the stimulus from the photoreceptors to the bipolar cells, with preserved photoreceptor function. This finding can be seen bilaterally and symmetrically in different hereditary conditions, such as congenital stationary night blindness, juvenile X-linked retinoschisis, and Duchenne and Becker muscular dystrophies...
November 30, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/29196072/social-involvement-issues-in-patients-with-becker-muscular-dystrophy-a-questionnaire-survey-of-subjects-from-a-patient-registry
#7
Madoka Mori-Yoshimura, Yukio Mizuno, Sumiko Yoshida, Narihiro Minami, Naohiro Yonemoto, Fumi Takeuchi, Ichizo Nishino, Miho Murata, Shin'ichi Takeda, Yuji Takahashi, En Kimura
BACKGROUND: Little is known about the relationship between Becker Muscular Dystrophy (BMD) and developmental problems, school life, employment, and mental problems. We aimed to clarify whether BMD is a risk factor for developmental disorders, problematic behavior, psychiatric diseases, and other social difficulties in school life and employment. METHODS: Adults with genetically or immunohistochemically confirmed BMD from the Registry of Muscular Dystrophy in Japan (REMUDY) were asked to complete a questionnaire regarding patient history, school life, employment, and mental problems...
November 29, 2017: Brain & Development
https://www.readbyqxmd.com/read/29194514/mouse-models-of-two-missense-mutations-in-actin-binding-domain-1-of-dystrophin-associated-with-duchenne-or-becker-muscular-dystrophy
#8
Jackie L McCourt, Dana M Talsness, Angus Lindsay, Robert W Arpke, Paul D Chatterton, D'anna M Nelson, Christopher M Chamberlain, John T Olthoff, Joseph J Belanto, Preston M McCourt, Michael Kyba, Dawn A Lowe, James M Ervasti
Missense mutations in the dystrophin protein can cause Duchenne (DMD) or Becker (BMD) muscular dystrophy through an undefined pathomechanism. In vitro studies suggest that missense mutations in the N-terminal actin binding domain (ABD1) cause protein instability, and cultured myoblast studies reveal decreased expression levels that can be restored to wild type with proteasome inhibitors. To further elucidate the pathophysiology of missense dystrophin in vivo, we generated two transgenic mdx mouse lines expressing L54R or L172H mutant dystrophin, which correspond to missense mutations identified in human patients with DMD or BMD, respectively...
November 28, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29167533/muscle-mri-and-functional-outcome-measures-in-becker-muscular-dystrophy
#9
Andrea Barp, Luca Bello, Luca Caumo, Paola Campadello, Claudio Semplicini, Annalisa Lazzarotto, Gianni Sorarù, Chiara Calore, Alessandro Rampado, Raffaella Motta, Roberto Stramare, Elena Pegoraro
Becker muscular dystrophy (BMD) is a neuromuscular disorder allelic to Duchenne muscular dystrophy (DMD), caused by in-frame mutations in the dystrophin gene, and characterized by a clinical progression that is both milder and more heterogeneous than DMD. Muscle magnetic resonance imaging (MRI) has been proposed as biomarker of disease progression in dystrophinopathies. Correlation with clinically meaningful outcome measures such as North Star Ambulatory Assessment (NSAA) and 6 minute walk test (6MWT) is paramount for biomarker qualification...
November 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29154419/clinical-profiles-and-prognosis-of-acute-heart-failure-in-adult-patients-with-dystrophinopathies-on-home-mechanical-ventilation
#10
Abdallah Fayssoil, Rabah Ben Yaou, Adam Ogna, France Leturcq, Olivier Nardi, Bernard Clair, Karim Wahbi, Frederic Lofaso, Pascal Laforet, Denis Duboc, David Orlikowski, Djillali Annane
AIMS: Duchenne muscular dystrophy (DMD) is characterized by respiratory and heart involvements. In the context of permanently wheelchair bound and on mechanical ventilation (MV) patients, the clinical presentation of acute heart failure (AHF) syndrome may be atypical. We sought to describe clinical and genetic profiles and to determine prognosis of DMD and Becker muscular dystrophy (BMD) patients on home MV (HMV), hospitalized for AHF. METHODS AND RESULTS: We included genetically proven DMD and BMD patients on HMV admitted for AHF...
November 2017: ESC Heart Failure
https://www.readbyqxmd.com/read/29125503/patient-preferences-for-treatments-of%C3%A2-neuromuscular-diseases-a-systematic-literature-review
#11
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/29119577/enhancing-human-aspects-of-care-with-young-people-with-muscular-dystrophy-results-from-a-participatory-qualitative-study-with-clinicians
#12
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/29103911/cyclic-peptides-to-improve-delivery-and-exon-skipping-of-antisense-oligonucleotides-in-a-mouse-model-for-duchenne-muscular-dystrophy
#13
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
#14
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/29067662/identification-of-splicing-factors-involved-in-dmd-exon-skipping-events-using-an-in-vitro-rna-binding-assay
#15
Julie Miro, Cyril F Bourgeois, Mireille Claustres, Michel Koenig, Sylvie Tuffery-Giraud
Mutation-induced exon skipping in the DMD gene can modulate the severity of the phenotype in patients with Duchenne or Becker Muscular Dystrophy. These alternative splicing events are most likely the result of changes in recruitment of splicing factors at cis-acting elements in the mutated DMD pre-mRNA. The identification of proteins involved can be achieved by an affinity purification procedure. Here, we provide a detailed protocol for the in vitro RNA binding assay that we routinely apply to explore molecular mechanisms underlying splicing defects in the DMD gene...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29067654/cardiac-involvement-in-duchenne-muscular-dystrophy-and-related-dystrophinopathies
#16
Sophie I Mavrogeni, George Markousis-Mavrogenis, Antigoni Papavasiliou, George Papadopoulos, Genovefa Kolovou
Dystrophinopathies include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XLCM), and facioscapulohumeral muscular dystrophy (FSHD). DMD/BMD are X-linked recessive disorders, related to the synthesis of dystrophin. Most of DMD after the third decade of their age develop cardiomyopathy that remains silent, due to relative physical inactivity. Cardiac disease in female carriers presents with hypertrophy, arrhythmias or dilated cardiomyopathy, clinically overt by increasing age...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28981144/screening-for-duchenne-muscular-dystrophy-in-germany-1977-2011-a-personal-story
#17
Günter Scheuerbrandt
This article by Dr. Günter Scheuerbrandt is a fascinating personal account and historical narrative of the birth and development of a screening program for Duchenne Muscular Dystrophy in Germany, beginning 40 years ago. As the author notes, approval of an institutional review board or ethics committee was not required for this type of scientific investigation in one's field at the time this program was begun, but we have removed all personal data from any of the materials presented in here in order to conform to current concepts of ethical publication...
October 5, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28974147/duchenne-and-becker-muscular-dystrophies-a-review-of-animal-models-clinical-end-points-and-biomarker-quantification
#18
Kristin Wilson, Crystal Faelan, Janet C Patterson-Kane, Daniel G Rudmann, Steven A Moore, Diane Frank, Jay Charleston, Jon Tinsley, G David Young, Anthony J Milici
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are neuromuscular disorders that primarily affect boys due to an X-linked mutation in the DMD gene, resulting in reduced to near absence of dystrophin or expression of truncated forms of dystrophin. Some newer therapeutic interventions aim to increase sarcolemmal dystrophin expression, and accurate dystrophin quantification is critical for demonstrating pharmacodynamic relationships in preclinical studies and clinical trials. Current challenges with measuring dystrophin include the variation in protein expression within individual muscle fibers and across whole muscle samples, the presence of preexisting dystrophin-positive revertant fibers, and trace amounts of residual dystrophin...
January 1, 2017: Toxicologic Pathology
https://www.readbyqxmd.com/read/28972564/exonization-of-an-intronic-line-1-element-causing-becker-muscular-dystrophy-as-a-novel-mutational-mechanism-in-dystrophin-gene
#19
Ana Gonçalves, Jorge Oliveira, Teresa Coelho, Ricardo Taipa, Manuel Melo-Pires, Mário Sousa, Rosário Santos
A broad mutational spectrum in the dystrophin (DMD) gene, from large deletions/duplications to point mutations, causes Duchenne/Becker muscular dystrophy (D/BMD). Comprehensive genotyping is particularly relevant considering the mutation-centered therapies for dystrophinopathies. We report the genetic characterization of a patient with disease onset at age 13 years, elevated creatine kinase levels and reduced dystrophin labeling, where multiplex-ligation probe amplification (MLPA) and genomic sequencing failed to detect pathogenic variants...
October 3, 2017: Genes
https://www.readbyqxmd.com/read/28943641/corrigendum-genetic-diagnosis-of-duchenne-becker-muscular-dystrophy-using-next-generation-sequencing-validation-analysis-of-dmd-mutations
#20
Mariko Okubo, Narihiro Minami, Kanako Goto, Yuichi Goto, Satoru Noguchi, Satomi Mitsuhashi, Ichizo Nishino
This corrects the article DOI: 10.1038/jhg.2016.7.
October 2017: Journal of Human Genetics
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