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https://www.readbyqxmd.com/read/28225046/erratum-validation-of-plasma-micrornas-as-biomarkers-for-myotonic-dystrophy-type-1
#1
A Perfetti, S Greco, R Cardani, B Fossati, G Cuomo, R Valaperta, F Ambrogi, A Cortese, A Botta, A Mignarri, M Santoro, C Gaetano, E Costa, M T Dotti, G Silvestri, R Massa, G Meola, F Martelli
No abstract text is available yet for this article.
February 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28221333/idiopathic-bilateral-profound-hypotony-in-an-unknown-progressive-neurodegenerative-disorder
#2
Lorraine M Provencher, Pamela C Carter, Wallace L M Alward
PURPOSE: To present a unique case of idiopathic bilateral hypotony in a patient with progressive, undiagnosed neurological decline, possibly due to mitochondrial disease, and to explore mechanisms of disease and potential treatment options. METHODS: This is a case report. PATIENT: A 17-year-old boy with a history of chronic progressive bilateral vision loss and hypotony in the setting of progressive gait abnormalities, lower extremity spasticity, nystagmus, and urinary retention starting around age 8...
February 17, 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28221312/what-s-in-the-literature
#3
David Lacomis, Nicholas J Silvestri, Edward J Fine, Gil I Wolfe
In this edition of this column, we review new studies concerning the pathophysiology, treatment, and outcomes of patients with necrotizing myopathy, genetic testing in congenital myopathies, and limb girdle muscular dystrophies, and the incidence of polyneuropathy in the myotonic dystrophies. Various studies in myasthenia gravis, including those concerning antibody testing, clinical features, and quality of life are also reviewed as are recent findings in congenital myasthenic syndromes. Finally, 2 studies concerning polyneuropathy are discussed, including one on the association of polyneuropathy in patients with the metabolic syndrome and one on laboratory testing in patients with otherwise idiopathic small fiber polyneuropathy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28213156/myotonic-dystrophy-disease-repeat-range-penetrance-age-of-onset-and-relationship-between-repeat-size-and-phenotypes
#4
REVIEW
Kevin Yum, Eric T Wang, Auinash Kalsotra
Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease primarily characterized by myotonia and progressive muscle weakness. The pathogenesis of DM involves microsatellite expansions in noncoding regions of transcripts that result in toxic RNA gain-of-function. Each successive generation of DM families carries larger repeat expansions, leading to an earlier age of onset with increasing disease severity. At present, diagnosis of DM is challenging and requires special genetic testing to account for somatic mosaicism and meiotic instability...
February 14, 2017: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/28211918/myotonic-dystrophy-type-1-patient-derived-ipscs-for-the-investigation-of-ctg-repeat-instability
#5
Junko Ueki, Masayuki Nakamori, Masahiro Nakamura, Misato Nishikawa, Yoshinori Yoshida, Azusa Tanaka, Asuka Morizane, Masayoshi Kamon, Toshiyuki Araki, Masanori P Takahashi, Akira Watanabe, Nobuya Inagaki, Hidetoshi Sakurai
Myotonic dystrophy type 1 (DM1) is an autosomal-dominant multi-system disease caused by expanded CTG repeats in dystrophia myotonica protein kinase (DMPK). The expanded CTG repeats are unstable and can increase the length of the gene with age, which worsens the symptoms. In order to establish a human stem cell system suitable for the investigation of repeat instability, DM1 patient-derived iPSCs were generated and differentiated into three cell types commonly affected in DM1, namely cardiomyocytes, neurons and myocytes...
February 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28209438/excessive-daytime-sleepiness-in-a-patient-with-coexisting-myotonic-dystrophy-type-1-myasthenia-gravis-and-graves-disease
#6
Katarzyna Kapica-Topczewska, Robert Pogorzelski, Joanna Tarasiuk, Wiesław Drozdowski, Piotr Lewczuk, Alina Kułakowska
A 41-year-old female with history of Graves' disease, bilateral cataract, paroxysmal atrial fibrillation was admitted because of muscle weakness, daytime sleepiness, fatigability, drowsiness, bilateral eyelid ptosis, descending of head and lower jaw. On neurological examination the patient was presented with muscle weakness, muscle atrophy (in face and sternocleidomastoid muscles), features of myotonia and apocamnosis (orbicular muscles). Electromyography revealed myopathic changes, myotonic and pseudomyotonic discharges, positive repetitive nerve stimulation test in proximal muscles...
February 3, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28201546/incidence-and-predictors-of-sudden-death-major-conduction-defects-and-sustained-ventricular-tachyarrhythmias-in-1388-patients-with-myotonic-dystrophy-type-1
#7
Karim Wahbi, Dominique Babuty, Vincent Probst, Ludivine Wissocque, Fabien Labombarda, Raphaël Porcher, Henri Marc Bécane, Arnaud Lazarus, Anthony Béhin, Pascal Laforêt, Tanya Stojkovic, Nicolas Clementy, Aurélie Pattier Dussauge, Jean Baptiste Gourraud, Yann Pereon, Arnaud Lacour, Françoise Chapon, Paul Milliez, Didier Klug, Bruno Eymard, Denis Duboc
No abstract text is available yet for this article.
December 9, 2016: European Heart Journal
https://www.readbyqxmd.com/read/28199958/toward-precision-medicine-in-myotonic-syndromes
#8
EDITORIAL
Michela De Bellis, Diana Conte Camerino, Jean-François Desaphy
No abstract text is available yet for this article.
10, 2017: Oncotarget
https://www.readbyqxmd.com/read/28194519/electromechanical-delays-during-a-fatiguing-exercise-and-recovery-in-patients-with-myotonic-dystrophy-type-1
#9
Fabio Esposito, Emiliano Cè, Susanna Rampichini, Elena Monti, Eloisa Limonta, Barbara Fossati, Giovanni Meola
PURPOSE: The partitioning of the electromechanical delay by an electromyographic (EMG), mechanomyographic (MMG) and force combined approach can provide further insight into the electrochemical and mechanical processes involved with skeletal muscle contraction and relaxation. The aim of the study was to monitor by this combined approach the changes in delays' electrochemical and mechanical components throughout a fatiguing task and during recovery in patients with myotonic dystrophy type 1 (DM1), who present at the skeletal muscle level fibres rearrangement, muscle weakness and myotonia, especially in the distal muscles...
February 14, 2017: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/28191665/apical-left-ventricular-myocardial-dysfunction-is-an-early-feature-of-cardiac-involvement-in-myotonic-dystrophy-type-1
#10
Rodrigue Garcia, Quentin Labarre, Bruno Degand, Pierre Ingrand, François Le Gal, Benjamin Bonnet, Anne Delaubier, Claire Guillou, Barnabas Gellen, Damien Coisne, Claire Bouleti, Luc Christiaens
INTRODUCTION: Left ventricular (LV) dysfunction is a major prognostic determinant in myotonic dystrophy type 1 (DM1). Therefore, markers of early-stage LV impairment may be useful. The aim of this study was to evaluate 2D echocardiographic LV strain in a cohort of DM1 patients with preserved left ventricular ejection fraction (LVEF) and to compare the results with matched controls. METHODS: This prospective single-center study included 33 consecutive DM1 patients between February 2014 and February 2015...
February 13, 2017: Echocardiography
https://www.readbyqxmd.com/read/28188264/immortalized-human-myotonic-dystrophy-muscle-cell-lines-to-assess-therapeutic-compounds
#11
Arandel Ludovic, Polay-Espinosa Micaela, Matloka Magdalena, Bazinet Audrey, De Dea Diniz Damily, Naouar Naïra, Rau Frédérique, Jollet Arnaud, Edom-Vovard Frédérique, Mamchaoui Kamel, Tarnopolsky Mark, Puymirat Jack, Battail Christophe, Boland Anne, Deleuze Jean-Francois, Mouly Vincent, Klein F Arnaud, Furling Denis
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant neuromuscular diseases caused by microsatellite expansions and belong to the family of RNA dominant disorders. Availability of cellular models in which the DM mutation is expressed within its natural context is essential to facilitate efforts to identify new therapeutic compounds. Here we generated immortalized DM1 and DM2 human muscle cell lines that display nuclear RNA-aggregates of expanded repeats, a hallmark of myotonic dystrophy. Selected clones of DM1 and DM2 immortalized myoblasts behave as parental primary myoblasts with a reduced fusion capacity of immortalized DM1 myoblasts when compared to control and DM2 cells...
February 10, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28181274/hereditary-myopathies-with-early-respiratory-insufficiency-in-adults
#12
Elie Naddaf, Margherita Milone
INTRODUCTION: Hereditary myopathies with early respiratory insufficiency as a predominant feature of the clinical phenotype are uncommon and underestimated in adults. METHODS: We reviewed the clinical and laboratory data of patients with hereditary myopathies that demonstrated early respiratory insufficiency prior to the need for ambulatory assistance. Only patients with disease-causing mutations or a specific histopathological diagnosis were included. Patients with cardiomyopathy were excluded...
February 9, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28181267/longitudinal-course-of-lung-function-in-myotonic-dystrophy-type-1
#13
Catherine Thil, Nelly Agrinier, Bruno Chenuel, Mathias Poussel
INTRODUCTION: Quality of life and prognosis among patients with myotonic dystrophy type 1 (DM1) depend on the degree of respiratory impairment. However the changes over time in pulmonary function in DM1 have not been clearly described. METHODS: We retrospectively reviewed pulmonary function tests of 80 DM1 patients followed for at least 5 years. RESULTS: During 9.02 ± 3.4 years of follow-up, the average annual changes were: forced vital capacity (FVC) -0...
February 9, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28168695/forensic-considerations-in-cases-of-myotonic-dystrophy-at-autopsy
#14
Kimberley J Omond, Roger W Byard
Myotonic dystrophy (DM) is a chronic, slowly progressive, autosomal-dominant disorder with delayed muscle relaxation after contraction, distal skeletal muscle weakness, and atrophy. It has a reduced life expectancy due predominantly to respiratory failure or sudden cardiac death. The mortality rate is approximately 7.3 times greater than the general population with a mean age at death of 53 years. Degeneration of the cardiac conduction system causes atrioventricular block, arrhythmias, and ventricular failure...
February 7, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28168524/functional-impairment-in-patients-with-myotonic-dystrophy-type-1-can-be-assessed-by-an-ataxia-rating-scale-sara
#15
Giovanni DiPaolo, Cecilia Jimenez-Moreno, Nikoletta Nikolenko, Antonio Atalaia, Darren G Monckton, Michela Guglieri, Hanns Lochmüller
Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying pathologies. This study aims to investigate the use of a scale previously described for the assessment and rating of ataxia (SARA) with the hypothesis that it could have utility in DM1 patients as a measure of disease severity and risk of falling. Data from 54 DM1 patients were pulled from the PHENO-DM1 natural history study for analysis...
February 6, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28164212/brain-involvement-in-myotonic-dystrophy-type-1-a-morphometric-and-diffusion-tensor-imaging-study-with-neuropsychological-correlation
#16
T Cabada, M Iridoy, I Jericó, P Lecumberri, R Seijas, A Gargallo, M Gomez
No abstract text is available yet for this article.
February 6, 2017: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/28152551/serum-response-factor-regulates-smooth-muscle-contractility-via-myotonic-dystrophy-protein-kinases-and-l-type-calcium-channels
#17
Moon Young Lee, Chanjae Park, Se Eun Ha, Paul J Park, Robyn M Berent, Brian G Jorgensen, Robert D Corrigan, Nathan Grainger, Peter J Blair, Orazio J Slivano, Joseph M Miano, Sean M Ward, Terence K Smith, Kenton M Sanders, Seungil Ro
Serum response factor (SRF) transcriptionally regulates expression of contractile genes in smooth muscle cells (SMC). Lack or decrease of SRF is directly linked to a phenotypic change of SMC, leading to hypomotility of smooth muscle in the gastrointestinal (GI) tract. However, the molecular mechanism behind SRF-induced hypomotility in GI smooth muscle is largely unknown. We describe here how SRF plays a functional role in the regulation of the SMC contractility via myotonic dystrophy protein kinase (DMPK) and L-type calcium channel CACNA1C...
2017: PloS One
https://www.readbyqxmd.com/read/28138246/association-of-peripheral-neuropathy-with-sleep-related-breathing-disorders-in-myotonic-dystrophies
#18
Marta Banach, Jakub Antczak, Rafał Rola
BACKGROUND: Myotonic dystrophy (DM) type 1 and type 2 are inherited diseases characterized by myotonia and myopathy. Additional symptoms include, among others, peripheral neuropathy and sleep-related breathing disorders (SRBDs). There is growing evidence for a complex association between DM1 and DM2, which was described in patients with diabetes mellitus and in the general population. In this study, we investigated whether there is an association between peripheral neuropathy and SRBDs also in the population of patients with DM...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28130447/pseudouridine-modification-inhibits-muscleblind-like-1-mbnl1-binding-to-ccug-repeats-and-minimally-structured-rna-through-reduced-rna-flexibility
#19
Elaine deLorimier, Melissa N Hinman, Jeremy Copperman, Kausiki Datta, Marina Guenza, J Andrew Berglund
Myotonic dystrophy type 2 is a genetic neuromuscular disease caused by the expression of expanded CCUG-repeat RNAs from the non-coding region of the CCHC-Type Zinc Finger Nucleic Acid Binding Protein (CNBP) gene. These CCUG repeats bind and sequester a family of RNA binding proteins known as Muscleblind-like 1, 2, and 3 (MBNL1, MBNL2, and MBNL3), and sequestration plays a significant role in pathogenicity. MBNL proteins are alternative splicing regulators that bind to the consensus RNA sequence YGCY (Y = pyrimidine)...
January 27, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28129347/the-celf1-rna-binding-protein-regulates-decay-of-signal-recognition-particle-mrnas-and-limits-secretion-in-mouse-myoblasts
#20
Joseph Russo, Jerome E Lee, Carolina M López, John Anderson, Thuy-Mi P Nguyen, Adam M Heck, Jeffrey Wilusz, Carol J Wilusz
We previously identified several mRNAs encoding components of the secretory pathway, including signal recognition particle (SRP) subunit mRNAs, among transcripts associated with the RNA-binding protein CELF1. Through immunoprecipitation of RNAs crosslinked to CELF1 in myoblasts and in vitro binding assays using recombinant CELF1, we now provide evidence that CELF1 directly binds the mRNAs encoding each of the subunits of the SRP. Furthermore, we determined the half-lives of the Srp transcripts in control and CELF1 knockdown myoblasts...
2017: PloS One
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