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https://www.readbyqxmd.com/read/28879884/global-muscular-dystrophy-research-a-25-year-bibliometric-perspective
#1
REVIEW
Shri Ram
Muscular dystrophy is a genetic disorder leading to progressive weakness of muscles caused due to dysfunction in or lack of protein in muscle cells. The prevalence of muscular dystrophy has been observed globally and is becoming a critical area of study for better health services. The purpose of the study is to analyze the research strength of muscular dystrophy using bibliographic literature. A quantitative literature analysis was carried out on muscular dystrophy from 1991 to 2015 for assessing the global research trends...
September 2017: Neurology India
https://www.readbyqxmd.com/read/28878337/precise-mapping-of-17-deletion-breakpoints-within-the-central-hotspot-deletion-region-introns-50-and-51-of-the-dmd-gene
#2
Gabriella Esposito, Maria Roberta Tremolaterra, Evelina Marsocci, Igor Cm Tandurella, Tiziana Fioretti, Maria Savarese, Antonella Carsana
Exon deletions in the human DMD gene, which encodes the dystrophin protein, are the molecular defect in 50-70% of cases of Duchenne/Becker muscular dystrophies. Deletions are preferentially clustered in the 5' (exons 2-20) and the central (exons 45-53) region of DMD, likely because local DNA structure predisposes to specific breakage or recombination events. Notably, innovative therapeutic strategies may rescue dystrophin function by homology-based specific targeting of sequences within the central DMD hot spot deletion region...
September 7, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28867298/transcriptional-and-epigenetic-analyses-of-the-dmd-locus-reveal-novel-cis%C3%A2-acting-dna-elements-that-govern-muscle-dystrophin-expression
#3
Samuele Gherardi, Matteo Bovolenta, Chiara Passarelli, Maria Sofia Falzarano, Paolo Pigini, Chiara Scotton, Marcella Neri, Annarita Armaroli, Hana Osman, Rita Selvatici, Francesca Gualandi, Alessandra Recchia, Marina Mora, Pia Bernasconi, Lorenzo Maggi, Lucia Morandi, Alessandra Ferlini, Giovanni Perini
The dystrophin gene (DMD) is the largest gene in the human genome, mapping on the Xp21 chromosome locus. It spans 2.2Mb and accounts for approximately 0,1% of the entire human genome. Mutations in this gene cause Duchenne and Becker Muscular Dystrophy, X-linked Dilated Cardiomyopathy, and other milder muscle phenotypes. Beside the remarkable number of reports describing dystrophin gene expression and the pathogenic consequences of the gene mutations in dystrophinopathies, the full scenario of the DMD transcription dynamics remains however, poorly understood...
August 31, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28859693/comprehensive-analysis-for-genetic-diagnosis-of-dystrophinopathies-in-japan
#4
Mariko Okubo, Kanako Goto, Hirofumi Komaki, Harumasa Nakamura, Madoka Mori-Yoshimura, Yukiko K Hayashi, Satomi Mitsuhashi, Satoru Noguchi, En Kimura, Ichizo Nishino
BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common disease in children caused by mutations in the DMD gene, and DMD and Becker muscular dystrophy (BMD) are collectively called dystrophinopathies. Dystrophinopathies show a complex mutation spectrum. The importance of mutation databases, with clinical phenotypes and protein studies of patients, is increasingly recognized as a reference for genetic diagnosis and for the development of gene therapy. METHODS: We used the data from the Japanese Registry of Muscular Dystrophy (Remudy) compiled during from July 2009 to March 2017, and reviewed 1497 patients with dystrophinopathies...
August 31, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28834590/abstracts
#5
Megan A Waldrop, Felecia Gumienny, Robert B Weiss, Kevin M Flanigan
INTRODUCTION: 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 in-frame transcripts. CASE REPORT: 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...
August 23, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28808269/delivery-of-large-transgene-cassettes-by-foamy-virus-vector
#6
Nathan Paul Sweeney, Jinhong Meng, Hayley Patterson, Jennifer E Morgan, Myra McClure
Viral vectors are effective tools in gene therapy, but their limited packaging capacity can be restrictive. Larger clinically-relevant vectors are needed. Foamy viruses have the largest genomes among mammalian retroviruses and their vectors have shown potential for gene therapy in preclinical studies. However, the effect of vector genome size on titre has not been determined. We inserted increasing lengths of the dystrophin open reading frame in a foamy virus vector and quantified packaged vector RNA and integrated DNA...
August 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28805065/neurohormonal-modulation-for-treatment-of-cardiac-involvement-in-dystrophinopathies-and-mitochondrial-disease
#7
Alberto Aimo, Alberto Giannoni, Vincenzo Castiglione, Michelangelo Mancuso, Gabriele Siciliano, Massimo F Piepoli, Claudio Passino, Michele Emdin
Mutations in either the nuclear or the mitochondrial genome can lead to structural and functional changes within the skeletal muscles. These genetic skeletal myopathies are rare, although not infrequent when their cumulative incidence is considered. Dystrophinopathies (Duchenne and Becker muscular dystrophies) and mitochondrial disease are some of the most frequent clinical entities, and those developing heart failure more frequently. Neurohormonal antagonism represents the cornerstone of heart failure management, even though its role in the prevention and treatment of heart failure in patients with dystrophinopathies or mitochondrial disorders remains undefined...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28803420/psychosocial-needs-and-facilitators-of-mothers-caring-for-children-with-duchenne-becker-muscular-dystrophy
#8
Holly L Peay, Bettina Meiser, Kathleen Kinnett, Aad Tibben
Care guidelines for Duchenne/Becker muscular dystrophy (DBMD) include recommendations for assessment of caregivers of patients with DBMD followed by proactive psychosocial interventions. To inform clinical assessment, this study described appraisals of psychosocial needs and caregiving facilitators of mothers of individuals with DBMD. Two hundred and five mothers completed an online survey. More than 50% endorsed unmet needs for managing uncertainty about the future and managing DBMD fears. Higher levels of unmet need were associated with less disease progression/earlier stage of DBMD (rho = -0...
August 12, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28777860/-unexpected-discovery-of-a-fetus-with-dmd-gene-deletion-using-single-nucleotide-polymorphism-array
#9
Shaobin Lin, Yu Zhou, Bingyi Zhou, Heng Gu
OBJECTIVE: To investigate the value of single nucleotide polymorphism array (SNP array) for the identification of de novo mutations in the DMD gene among fetuses. METHODS: G-banded karyotyping and SNP array were performed on a fetus with intrauterine growth restriction but without family history of Duchenne/Becker muscular dystrophy (DMD/BMD). Multiplex ligation-dependent probe amplification (MLPA) was subsequently applied on amniocytes and maternal peripheral blood sample to detect DMD gene deletion/duplication mutations...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28746422/patients-with-duchenne-and-becker-muscular-dystrophies-are-not-more-asymmetrical-than-healthy-controls-on-timed-performance-of-upper-limb-tasks
#10
M C Artilheiro, C S C Sá, F M Fávero, F A Caromano, M C Voos
This study aimed to investigate possible asymmetries and relationships between performance of dominant and non-dominant upper limbs (UL) in patients with Duchenne and Becker muscular dystrophies (DMD/BMD), to compare UL performance of patients and healthy subjects and to investigate the relationship between timed performance of UL and age, motor function and muscle strength in DMD/BMD patients. Sixteen patients with DMD and 3 with BMD were evaluated with Jebsen-Taylor Test (timed performance), Vignos scale and Dimension 3 of Motor Function Measure (motor function), and Medical Research Council scale (muscle strength) on a single session...
July 24, 2017: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/28745468/short-stature-and-high-serum-transaminase-levels-growth-hormone-deficiency-in-a-child-with-becker-muscular-dystrophy
#11
Rossella Gaudino, Claudia Piona, Grazia Morandi, Evelina Maines, Claudia Banzato, Paola Tonin, Mauro Scarpelli, Paolo Cavarzere, Franco Antoniazzi
No abstract text is available yet for this article.
October 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28738778/cardiac-profile-of-asymptomatic-children-with-becker-and-duchenne-muscular-dystrophy-under-treatment-with-steroids-and-with-without-perindopril
#12
Sophie Mavrogeni, Aikaterini Giannakopoulou, Antigoni Papavasiliou, George Markousis-Mavrogenis, Roser Pons, Evangelos Karanasios, Michel Noutsias, Genovefa Kolovou, George Papadopoulos
BACKGROUND: To evaluate cardiovascular function in boys with Duchenne (DMD) and Becker (BMD) muscular dystrophy, using cardiac magnetic resonance (CMR). METHODS: This is a single point cross sectional study of twenty-four boys with genetically ascertained DMD, and 10 with BMD, aged 10.5 ± 1.5 years (range 9-13), were prospectively evaluated by a 1.5 T system and compared with those of age-sex matched controls. The DMD patients were divided in 2 groups. Group A (N = 12) were under treatment with both deflazacort and perindopril, while Group B (n = 12) were under treatment with deflazacort, only...
July 24, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28734761/patients-with-duchenne-muscular-dystrophy-are-significantly-shorter-than-those-with-becker-muscular-dystrophy-with-the-higher-incidence-of-short-stature-in-dp71-mutated-subgroup
#13
Masaaki Matsumoto, Hiroyuki Awano, Tomoko Lee, Yasuhiro Takeshima, Masafumi Matsuo, Kazumoto Iijima
Duchenne and Becker muscular dystrophy (DMD/BMD) are caused by mutations in the dystrophin gene and are characterized by severe and mild progressive muscle wasting, respectively. Short stature has been reported as a feature of DMD in the Western hemisphere, but not yet confirmed in Orientals. Height of young BMD has not been fully characterized. Here, height of ambulant and steroid naive Japanese 179 DMD and 42 BMD patients between 4 and 10 years of age was retrospectively examined using height standard deviation score (SDS)...
June 19, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28727929/na-h-exchanger-and-proton-channel-in-heart-failure-associated-with-becker-and-duchenne-muscular-dystrophies
#14
Ghassan Bkaily, Danielle Jacques
Cardiomyopathy is found in patients with Duchenne (DMD) and Becker (BMD) muscular dystrophies, which are linked muscle diseases caused by mutations in the dystrophin gene. Dystrophin defects are not limited to DMD but are also present in mild BMD. The hereditary cardiomyopathic hamster of the UM-X7.1 strain is a particular experimental model of heart failure (HF) leading to early death in muscular dystrophy (dystrophin deficiency and sarcoglycan mutation) and heart disease (δ-sarcoglycan deficiency and dystrophin mutation) in human DMD...
July 20, 2017: Canadian Journal of Physiology and Pharmacology
https://www.readbyqxmd.com/read/28690390/integrated-care-of-muscular-dystrophies-in-italy-part-1-pharmacological-treatment-and-rehabilitative-interventions
#15
Luisa Politano, Marianna Scutifero, Melania Patalano, Alessandra Sagliocchi, Antonella Zaccaro, Federica Civati, Erika Brighina, Gianluca Vita, Sonia Messina, Maria Sframeli, Maria Elena Lombardo, Roberta Scalise, Giulia Colia, Maria Catteruccia, Angela Berardinelli, Maria Chiara Motta, Alessandra Gaiani, Claudio Semplicini, Luca Bello, Guja Astrea, Giulia Ricci, Maria Grazia D'Angelo, Giuseppe Vita, Marika Pane, Adele D'Amico, Umberto Balottin, Corrado Angelini, Roberta Battini, Lorenza Magliano
This paper describes the pharmacological therapies and rehabilitative interventions received by 502 patients with Muscular Dystrophies, evaluated in relation to patient's socio-demographic and clinical variables, and geographical areas. Data were collected by the MD-Socio-Demographic and Clinical Schedule (MD-SC-CS) and by the Family Problems Questionnaire (FPQ). The most part of the enrolled patients were in drug treatment. The number of the medications increased in relation to patient's age, disability degree and duration of illness and was higher among patients with Duchenne Muscular Dystrophy (DMD) compared with Becker (BMD) or Limb-Girdle Muscular Dystrophies (LGMD)...
March 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28680110/deletions-not-duplications-or-small-mutations-are-the-predominante-new-mutations-in-the-dystrophin-gene
#16
Janusz G Zimowski, Magdalena Pawelec, Joanna K Purzycka, Walentyna Szirkowiec, Jacek Zaremba
Examination of the carrier state was performed in 744 unrelated mothers of the Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) probands with identified mutations in the dystrophin gene. Owing to that it was possible to assess frequency and type of new mutations in the gene. Contrary to the Japanese observations of Lee et al. published in this journal, we did not find significant differences in the carrier frequency between mothers of DMD and BMD patients. However, we found that new mutations in patients with deletions were significantly more frequent than in those with duplications and small mutations: of 564 unrelated patients with deletions, 236 (41...
July 6, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28610567/mlpa-identification-of-dystrophin-mutations-and-in-silico-evaluation-of-the-predicted-protein-in-dystrophinopathy-cases-from-india
#17
Sekar Deepha, Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Atchayaram Nalini, Narayanappa Gayathri, Meera Purushottam
BACKGROUND: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the DMD gene. The aim of this study was to predict the effect of gene mutations on the dystrophin protein and study its impact on clinical phenotype. METHODS: In this study, 415 clinically diagnosed patients were tested for mutations by Multiplex ligation dependent probe amplification (MLPA). Muscle biopsy was performed in 34 patients with negative MLPA...
June 13, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28597072/normal-and-altered-pre-mrna-processing-in-the-dmd-gene
#18
REVIEW
Sylvie Tuffery-Giraud, Julie Miro, Michel Koenig, Mireille Claustres
Splicing of pre-mRNA is a crucial regulatory stage in the pathway of gene expression controlled by multiple post- and co-transcriptional mechanisms. The large Duchenne muscular dystrophy gene encoding the protein dystrophin provides a striking example of the complexity of human pre-mRNAs. In this review, we summarize the current state of knowledge about canonical and non-canonical splicing in the DMD pre-mRNA, with a focus on mechanisms that take place in the full-length transcript isoform expressed in human skeletal muscle...
June 9, 2017: Human Genetics
https://www.readbyqxmd.com/read/28580208/heart-transplantation-in-patients-with-dystrophinopathic-cardiomyopathy-review-of-the-literature-and-personal-series
#19
REVIEW
Andrea Antonio Papa, Paola D'Ambrosio, Roberta Petillo, Alberto Palladino, Luisa Politano
Cardiomyopathy associated with dystrophinopathies [Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XL-dCM) and cardiomyopathy of Duchenne/Becker (DMD/BMD) carriers] is an increasing recognized manifestation of these neuromuscular disorders and notably contributes to their morbidity and mortality. Dystrophinopathic cardiomyopathy (DCM) is the result of the dystrophin protein deficiency at the myocardium level, parallel to the deficiency occurring at the skeletal muscle level...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28576279/-atypical-reaction-to-anesthesia-in-duchenne-becker-muscular-dystrophy
#20
Helga Cristina Almeida da Silva, Marcia Hiray, Mariz Vainzof, Beny Schmidt, Acary Souza Bulle Oliveira, José Luiz Gomes do Amaral
BACKGROUND AND OBJECTIVES: Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of this report is to describe the investigation and diagnosis of a patient with Becker muscular dystrophy and review the care required in anesthesia. CASE REPORT: Male patient, 14 years old, referred for hyperCKemia (chronic increase of serum creatine kinase levels - CK), with CK values of 7,779-29,040IU...
May 30, 2017: Revista Brasileira de Anestesiologia
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