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Muscular dystrophy

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https://www.readbyqxmd.com/read/29139382/-episodes-of-recurrent-pneumothorax-in-a-patient-with-collagen-vi-related-congenital-muscular-dystrophy
#1
Rémi Bellance, Rudy Valentino, Bruno Sanchez, Octavio Labrada-Blanco, Linda Manere, J Andoni Urtizberea, Elisabeth Sarrazin
No abstract text is available yet for this article.
November 2017: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/29138090/novel-de-novo-dysferlin-gene-mutations-in-a-patient-with-miyoshi-myopathy
#2
Yi-Ying Hu, Ya-Jun Lian, Hong-Liang Xu, Ya-Ke Zheng, Chen-Fei Li, Ji-Wei Zhang, Shu-Ping Yan
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF), a 150-kb gene on chromosome 2p13 that contains 55 coding exons. Many patients with MM harbour mutations in the DYSF gene, and most of these mutations are inherited from the patients' parents. Recently, we encountered novel, de novo mutations in the DYSF gene in a patient with MM. DYSF gene analysis was performed by targeted next-generation sequencing, and we found that the patient had compound heterozygous mutations, including a de novo mutation (c...
November 11, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29134705/a-dystroglycan-mutation-p-cys667phe-associated-to-muscle-eye-brain-disease-with-multicystic-leucodystrophy-results-in-er-retention-of-the-mutant-protein
#3
Giulia Signorino, Sonia Covaceuszach, Manuela Bozzi, Wolfgang Hubner, Viola Mönkemöller, Petr V Konarev, Alberto Cassetta, Andrea Brancaccio, Francesca Sciandra
Dystroglycan (DG) is a cell adhesion complex composed by two subunits, the highly glycosylated α-DG and the transmembrane β-DG. In skeletal muscle, DG is involved in dystroglycanopathies, a group of heterogeneous muscular dystrophies characterized by a reduced glycosylation of α-DG. The genes mutated in secondary dystroglycanopathies are involved in the synthesis of O-mannosyl glycans and in the O-mannosylation pathway of α-DG. Mutations in the DG gene (DAG1), causing primary dystroglycanopathies, destabilize the α-DG core protein influencing its binding to modifying enzymes...
November 13, 2017: Human Mutation
https://www.readbyqxmd.com/read/29130550/-1-h-nmrs-of-carnosine-combined-with-31-p-nmrs-to-better-characterize-skeletal-muscle-ph-dysregulation-in-duchenne-muscular-dystrophy
#4
Harmen Reyngoudt, Suna Turk, Pierre G Carlier
In recent years, quantitative nuclear magnetic resonance imaging and spectroscopy (NMRI and NMRS) have been used more systematically as outcome measures in natural history and clinical trial studies for Duchenne muscular dystrophy (DMD). Whereas most of these studies have emphasized the evaluation of the fat fraction as an assessment for disease severity, less focus has been placed on metabolic indices measured by NMRS. (31) P NMRS in DMD reveals an alkaline inorganic phosphate (Pi ) pool, originating from either leaky dystrophic myocytes or an increased interstitial space...
November 12, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/29130502/cardiac-involvement-in-the-muscular-dystrophies
#5
REVIEW
Nicholas J Silvestri, Haisam Ismail, Peter Zimetbaum, Elizabeth M Raynor
Cardiac disease is a common clinical manifestation present in a variety of neuromuscular disorders, most notably the muscular dystrophies. Heart disease may produce the presenting or predominant symptoms in these disorders but more often does not result in clinical features at the time of initial presentation. Cardiac involvement in the muscular dystrophies results from pathologic changes in the myocardium and the cardiac conduction system, leading to cardiomyopathy and/or rhythm disturbances including supraventricular arrhythmias, life-threatening ventricular arrhythmias, and sudden cardiac death...
November 11, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29129380/evaluation-of-activities-of-daily-living-in-patients-with-slowly-progressive-neuromuscular-diseases
#6
Katarzyna Bienias, Joanna Ścibek, Joanna Cegielska, Jan Kochanowski
Slowly progressive neuromuscular diseases include but are not limited to: facioscapulohumeral muscular dystrophy (FSHD) and limb-girdle muscular dystrophy (LGMD), hereditary motor and sensory neuropathy (HMSN) and spinal muscular atrophy type III (SMA3). The purpose of this study is to present an evaluation of basic and complex activities of daily living in patients suffering from these diseases. The study was conducted on a group of 58 Polish patients: 25 patients with HMSN, 19 with LGMD and FSHD and 14 with SMA3...
October 27, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29129153/skin-biopsy-for-diagnosis-of-ullrich-congenital-muscular-dystrophy-an-observational-study
#7
Biswaroop Chakrabarty, M C Sharma, Sheffali Gulati, Chitra Sarkar
The gold standard diagnostic test for Ullrich congenital muscular dystrophy (UCMD) is molecular testing for COL6 mutation. The facility for genetic testing is sparingly available and it is usually diagnosed by muscle biopsy. The latter is an invasive procedure requiring expertise and sedation. Skin biopsy has shown promise as a simpler diagnostic modality. Eleven and 7 cases, respectively, of phenotypically suspected Ullrich congenital muscular dystrophy and dystrophinopathy underwent simultaneous skin and muscle biopsies, which were subjected to hematoxylin and eosin (H&E) and immunohistochemistry staining for collagen VI and dystrophin 1, 2, and 3...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29127875/derivation-of-the-duchenne-muscular-dystrophy-patient-derived-induced-pluripotent-stem-cell-line-lacking-dmd-exons-49-and-50-ccmi001dmd-a-3-%C3%A2-49-%C3%A2-50
#8
Gabriella Spaltro, Vera Vigorelli, Federica Casalnuovo, Pietro Spinelli, Elisa Castiglioni, Davide Rovina, Stefania Paganini, Marina Di Segni, Patrizia Nigro, Cristina Gervasini, Giulio Pompilio, Aoife Gowran
Duchenne muscular dystrophy (DMD) is caused by abnormalities in the dystrophin gene and is clinically characterised by childhood muscle degeneration and cardiomyopathy. We produced an induced pluripotent stem cell line from a DMD patient's dermal fibroblasts by electroporation with episomal vectors containing: hL-MYC, hLIN28, hSOX2, hKLF4, hOCT3/4. The resultant DMD iPSC line (CCMi001DMD-A-3) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal...
October 28, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29127365/the-primary-cilium-is-necessary-for-the-differentiation-and-the-maintenance-of-human-adipose-progenitors-into-myofibroblasts
#9
N Arrighi, K Lypovetska, C Moratal, S Giorgetti-Peraldi, C A Dechesne, C Dani, P Peraldi
The primary cilium is an organelle, present at the cell surface, with various biological functions. We, and others, have shown that it plays a role in the differentiation of adipose progenitors (APs) into adipocytes. APs can also differentiate into myofibroblasts when treated with TGF-β1. Several components of the TGF-β1 pathway are located within the cilium suggesting a function for this organelle in AP myofibrogenesis. We studied differentiation of APs into myofibroblasts in two human models: APs of the adipose tissue (aAPs) and APs resident in the skeletal muscles (mAPs)...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29125995/a-human-ips-cell-myogenic-differentiation-system-permitting-high-throughput-drug-screening
#10
Tomoya Uchimura, Jun Otomo, Masae Sato, Hidetoshi Sakurai
Muscular dystrophy is a disease characterized by progressive muscle weakness and degeneration. There are currently no available treatments for most muscular diseases, such as muscular dystrophy. Moreover, current therapeutics are focused on improving the quality of life of patients by relieving the symptoms or stress caused by the disease. Although the causative genes for many muscular diseases have been identified, the mechanisms underlying their pathogenesis remain unclear. Patient-derived induced pluripotent stem cells (iPSCs) have become a powerful tool for understanding the pathogenesis of intractable diseases, as well as for phenotype screening, which can serve as the basis for developing new drugs...
October 28, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29125504/clinical-outcomes-in-duchenne-muscular-dystrophy-a-study-of-5345-patients-from-the-treat-nmd-dmd-global-database
#11
Zaïda Koeks, Catherine L Bladen, David Salgado, Erik van Zwet, Oksana Pogoryelova, Grace McMacken, Soledad Monges, Maria Foncuberta, Kyriaki Kekou, Konstantina Kosma, Hugh Dawkins, Leanne Lamont, Matthew I Bellgard, Anna J Roy, Teodora Chamova, Velina Guergueltcheva, Sophelia Chan, Lawrence Korngut, Craig Campbell, Yi Dai, Jen Wang, Nina Barišić, Petr Brabec, Jaana Lähdetie, Maggie C Walter, Olivia Schreiber-Katz, Veronika Karcagi, Marta Garami, Agnes Herczegfalvi, Venkatarman Viswanathan, Farhad Bayat, Filippo Buccella, Alessandra Ferlini, En Kimura, Janneke C van den Bergen, Miriam Rodrigues, Richard Roxburgh, Anna Lusakowska, Anna Kostera-Pruszczyk, Rosário Santos, Elena Neagu, Svetlana Artemieva, Vedrana Milic Rasic, Dina Vojinovic, Manuel Posada, Clemens Bloetzer, Andrea Klein, Jordi Díaz-Manera, Eduard Gallardo, A Ayşe Karaduman, Tunca Oznur, Haluk Topaloğlu, Rasha El Sherif, Angela Stringer, Andriy V Shatillo, Ann S Martin, Holly L Peay, Jan Kirschner, Kevin M Flanigan, Volker Straub, Kate Bushby, Christophe Béroud, Jan J Verschuuren, Hanns Lochmüller
BACKGROUND: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. In addition, as average life-expectancy increases, reliable data is required on clinical progression in the older DMD population. OBJECTIVE: To determine the effects of corticosteroids on major clinical outcomes of DMD in a large multinational cohort of genetically confirmed DMD patients...
November 10, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29125503/patient-preferences-for-treatments-of%C3%A2-neuromuscular-diseases-a-systematic-literature-review
#12
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/29124971/motor-learning-from-virtual-reality-to-natural-environments-in-individuals-with-duchenne-muscular-dystrophy
#13
Virgínia Helena Quadrado, Talita Dias da Silva, Francis Meire Favero, James Tonks, Thais Massetti, Carlos Bandeira de Mello Monteiro
PURPOSE: To examine whether performance improvements in the virtual environment generalize to the natural environment. STUDY DESIGN: we had 64 individuals, 32 of which were individuals with DMD and 32 were typically developing individuals. METHODS: The groups practiced two coincidence timing tasks. In the more tangible button-press task, the individuals were required to 'intercept' a falling virtual object at the moment it reached the interception point by pressing a key on the computer...
November 10, 2017: Disability and Rehabilitation. Assistive Technology
https://www.readbyqxmd.com/read/29123500/efficacy-and-the-safety-of-granulocyte-colony-stimulating-factor-treatment-in-patients-with-muscular-dystrophy-a-non-randomized-clinical-trial
#14
Dorota Sienkiewicz, Wojciech Kułak, Bożena Okurowska-Zawada, Grażyna Paszko-Patej, Janusz Wojtkowski, Karolina Sochoń, Anna Kalinowska, Kamila Okulczyk, Jerzy Sienkiewicz, Edward McEachern
Introduction: The current standard treatment for patients with Duchenne muscular dystrophy (DMD) involves corticosteroids. Granulocyte colony-stimulating factor (G-CSF) induces the proliferation of satellite cells and myoblasts and, in turn, muscle regeneration. Beneficial effects of G-CSF were also described for skeletal muscle disorders. Aim: We assessed the safety and effects of using G-CSF to promote muscle strength in patients with DMD. Materials and methods: Inclusion criteria were as follows: patients aged 5-15 years with diagnosed with DMD confirmed by genetic test or biopsy...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29121992/a-mouse-anti-myostatin-antibody-increases-muscle-mass-and-improves-muscle-strength-and-contractility-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy-and-its-humanized-equivalent-domagrozumab-pf-06252616-increases-muscle-volume-in-cynomolgus-monkeys
#15
Michael St Andre, Mark Johnson, Prashant N Bansal, Jeremy Wellen, Andrew Robertson, Alan Opsahl, Peter M Burch, Peter Bialek, Carl Morris, Jane Owens
BACKGROUND: The treatments currently approved for Duchenne muscular dystrophy (DMD), a progressive skeletal muscle wasting disease, address the needs of only a small proportion of patients resulting in an urgent need for therapies that benefit all patients regardless of the underlying mutation. Myostatin is a member of the transforming growth factor-β (TGF-β) family of ligands and is a negative regulator of skeletal muscle mass. Loss of myostatin has been shown to increase muscle mass and improve muscle function in both normal and dystrophic mice...
November 9, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/29121498/cardiac-involvement-in-myotonic-dystrophy-the-role-of-troponins-and-n-terminal-pro-b-type-natriuretic-peptide
#16
Rea Valaperta, Claudia De Siena, Rosanna Cardani, Fortunata Lombardia, Edina Cenko, Benedetta Rampoldi, Barbara Fossati, Elisa Brigonzi, Roberta Rigolini, Paola Gaia, Giovanni Meola, Elena Costa, Raffaele Bugiardini
BACKGROUND AND AIMS: Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are dominant inherited muscular dystrophies with multiple systemic involvement, often producing cardiac injury. This study sought to determine the clinical significance of elevated high sensitivity cardiac troponin T and I (hs-cTnT and hs-cTnI), and N-terminal pro B-type natriuretic peptide (NT-pro-BNP) in this population. METHODS: Sixty DM patients (35 men and 25 women; mean age: 45.1 years, range: 12-73 years) underwent clinical cardiac investigations and measurements of serum hs-cTnT, hs-cTnI, creatine kinase (CK), and NT-proBNP...
October 21, 2017: Atherosclerosis
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
#17
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/29116571/quality-of-life-in-adult-patients-with-limb-girdle-muscular-dystrophies
#18
Marina Peric, Stojan Peric, Jelena Stevanovic, Sara Milovanovic, Ivana Basta, Ana Nikolic, Aleksandra Kacar, Vidosava Rakocevic-Stojanovic
Although limb-girdle muscular dystrophies (LGMD) can cause permanent disability, to date there are no studies that examined quality of life (QoL) in these patients. Our aim was to evaluate QoL in patients with LGMD, and to identify the most significant predictors of QoL. The study comprised 46 patients with diagnosis of limb-girdle muscular weakness. QoL in patients was evaluated using two scales-SF-36 questionnaire and the Individualized Neuromuscular Quality of Life questionnaire (INQoL). Following scales were also applied: Epworth Sleepiness Scale (ESS), Hamilton Scale for Depression (HamD), and Krupp's Fatigue Severity Scale (FSS)...
November 7, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29112784/clinical-and-genetic-features-of-patients-with-facial-sparing-facioscapulohumeral-muscular-dystrophy
#19
J-J He, X-D Lin, F Lin, G-R Xu, L-Q Xu, W Hu, D-N Wang, H-X Lin, M-T Lin, N Wang, Z-Q Wang
BACKGROUND AND PURPOSE: Facial-sparing scapular myopathy (SHD) is the most common atypical form of facioscapulohumeral muscular dystrophy (FSHD), clinically defined as those without apparent facial muscle weakness on neurologic examination. The clinical profiles and genetic features of SHD are limited. METHODS: A cohort of 21 Chinese patients with SHD were confirmed by PFGE-based molecular genetic analysis. The clinical assessments and methylation analysis were noted...
November 7, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29109789/nucleic-acid-based-theranostics-for-tackling-alzheimer-s-disease
#20
REVIEW
Madhuri Chakravarthy, Suxiang Chen, Peter R Dodd, Rakesh N Veedu
Nucleic acid-based technologies have received significant interest in recent years as novel theranostic strategies for various diseases. The approval by the United States Food and Drug Administration (FDA) of Nusinersen, an antisense oligonucleotide drug, for the treatment of spinal muscular dystrophy highlights the potential of nucleic acids to treat neurological diseases, including Alzheimer's disease (AD). AD is a devastating neurodegenerative disease characterized by progressive impairment of cognitive function and behavior...
2017: Theranostics
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