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https://www.readbyqxmd.com/read/29125503/patient-preferences-for-treatments-of%C3%A2-neuromuscular-diseases-a-systematic-literature-review
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28937030/a-de-novo-mutation-in-dystrophin-causing-muscular-dystrophy-in-a-female-patient
#11
Hao Yu, Yu-Chao Chen, Gong-Lu Liu, Zhi-Ying Wu
BACKGROUND: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular diseases resulting from dystrophin (DMD) gene mutations. It has been known that the carrier of DMD mutations may also have symptoms of the disease. While de novo mutation is quite common in BMD/DMD patients, it is rarely reported in the female carriers. METHODS: Two sporadic Chinese patients with progressive muscular dystrophy and their familial members were recruited...
October 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28879884/global-muscular-dystrophy-research-a-25-year-bibliometric-perspective
#12
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
#13
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
#14
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...
November 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28859693/comprehensive-analysis-for-genetic-diagnosis-of-dystrophinopathies-in-japan
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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