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Myotonic dystrophy

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https://www.readbyqxmd.com/read/28642828/surgical-orthodontic-treatment-of-a-patient-affected-by-type-1-myotonic-dystrophy-steinert-syndrome
#1
Laura Cacucci, Beatrice Ricci, Maria Moretti, Giulio Gasparini, Sandro Pelo, Cristina Grippaudo
Myotonic dystrophy, or Steinert's disease, is the most common form of muscular dystrophy that occurs in adults. This multisystemic form involves the skeletal muscles but affects also the eye, the endocrine system, the central nervous system, and the cardiac system. The weakness of the facial muscles causes a characteristic facial appearance frequently associated with malocclusions. Young people with myotonic dystrophy, who also have severe malocclusions, have bad oral functions such as chewing, breathing, and phonation...
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/28637233/identification-of-exosomal-muscle-specific-mirnas-in-serum-of-myotonic-dystrophy-patients-relating-to-muscle-disease-progress
#2
Andrie Koutsoulidou, Marinos Photiades, Tassos C Kyriakides, Kristia Georgiou, Marianna Prokopi, Konstantinos Kapnisis, Anna Lusakowska, Marianna Nearchou, Yiolanda Christou, George K Papadimas, Andreas Anayiotos, Kyriakos Kyriakou, Evangelia Kararizou, Eleni Zamba Papanicolaou, Leonidas A Phylactou
Myotonic dystrophy type 1 (DM1) is the most common form of adult-onset muscular dystrophy, which is characterised by progressive muscle wasting and the discovery of reliable blood-based biomarkers could be useful for the disease progress monitoring. There have been some reports showing that the presence of specific miRNAs in blood correlate with DM1. In one of these, our group identified four muscle-specific miRNAs, miR-1, miR-133a, miR-133b and miR-206, which correlated with the progression of muscle wasting observed in DM1 patients...
June 16, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28630007/rna-localization-making-its-way-to-the-center-stage
#3
REVIEW
Ashley Chin, Eric Lécuyer
Cells are highly organized entities that rely on intricate addressing mechanisms to sort their constituent molecules to precise subcellular locations. These processes are crucial for cells to maintain their proper organization and carry out specialized functions in the body, while genetic perturbations that clog up these addressing systems can contribute to disease aetiology. The trafficking of RNA molecules represents an important layer in the control of cellular organization, a process that is both highly prevalent and for which features of the regulatory machineries have been deeply conserved evolutionarily...
June 16, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28624222/targeting-dmpk-with-antisense-oligonucleotide-improves-muscle-strength-in-myotonic-dystrophy-type-1-mice
#4
Dominic Jauvin, Jessina Chrétien, Sanjay K Pandey, Laurie Martineau, Lucille Revillod, Guillaume Bassez, Aline Lachon, A Robert McLeod, Geneviève Gourdon, Thurman M Wheeler, Charles A Thornton, C Frank Bennett, Jack Puymirat
Myotonic dystrophy type 1 (DM1), a dominant hereditary muscular dystrophy, is caused by an abnormal expansion of a (CTG)n trinucleotide repeat in the 3' UTR of the human dystrophia myotonica protein kinase (DMPK) gene. As a consequence, mutant transcripts containing expanded CUG repeats are retained in nuclear foci and alter the function of splicing regulatory factors members of the MBNL and CELF families, resulting in alternative splicing misregulation of specific transcripts in affected DM1 tissues. In the present study, we treated DMSXL mice systemically with a 2'-4'-constrained, ethyl-modified (ISIS 486178) antisense oligonucleotide (ASO) targeted to the 3' UTR of the DMPK gene, which led to a 70% reduction in CUG(exp) RNA abundance and foci in different skeletal muscles and a 30% reduction in the heart...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28623239/-ccug-n-rna-toxicity-in-a-drosophila-model-for-myotonic-dystrophy-type-2-dm2-activates-apoptosis
#5
Vildan Betul Yenigun, Mario Sirito, Alla Amcheslavky, Tomek Czernuszewicz, Jordi Colonques-Bellmunt, Irma García-Alcover, Marzena Wojciechowska, Clare Bolduc, Zhihong Chen, Arturo López Castel, Ralf Krahe, Andreas Bergmann
The myotonic dystrophies are prototypic toxic RNA gain-of-function diseases. Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are caused by different unstable, noncoding microsatellite repeat expansions -- (CTG)DM1 in DMPK and (CCTG)DM2 in CNBP Although transcription of mutant repeats into (CUG)DM1 or (CCUG)DM2 appears to be necessary and sufficient to cause disease, their pathomechanisms remain incompletely understood. To study the mechanisms of (CCUG)DM2 toxicity and develop a convenient model for drug screening, we generated a transgenic DM2 model in the fruit fly Drosophila melanogaster with (CCUG)n repeats of variable length (n=16 and 106)...
June 16, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28617590/structure-and-dynamics-of-rna-repeat-expansions-that-cause-huntington-s-disease-and-myotonic-dystrophy-type-1
#6
Jonathan L Chen, Damian M VanEtten, Matthew A Fountain, Ilyas Yildirim, Matthew D Disney
RNA repeat expansions cause a host of incurable, genetically-defined diseases. The most common class of RNA repeats are trinucleotide repeats. These long, repeating transcripts fold into hairpins containing 1 × 1 internal loops that can mediate disease via a variety of mechanism(s) in which RNA is the central player. Two of these disorders are Huntington's disease and myotonic dystrophy type 1, which are caused by r(CAG) and r(CUG) repeats, respectively. We report the structures of two RNA constructs containing three copies of a r(CAG) [r(3×CAG)] or r(CUG) [r(3×CUG)] motif that were modeled with nuclear magnetic resonance spectroscopy and simulated annealing with restrained molecular dynamics...
June 15, 2017: Biochemistry
https://www.readbyqxmd.com/read/28611033/repeats-and-survival-in-myotonic-dystrophy-type-1
#7
EDITORIAL
Matthew T Wheeler
No abstract text is available yet for this article.
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28611030/association-between-mutation-size-and-cardiac-involvement-in-myotonic-dystrophy-type-1-an-analysis-of-the-dm1-heart-registry
#8
Caroline Chong-Nguyen, Karim Wahbi, Vincent Algalarrondo, Henri Marc Bécane, Hélène Radvanyi-Hoffman, Pauline Arnaud, Denis Furling, Arnaud Lazarus, Guillaume Bassez, Anthony Béhin, Abdallah Fayssoil, Pascal Laforêt, Tanya Stojkovic, Bruno Eymard, Denis Duboc
BACKGROUND: In myotonic dystrophy type 1, the association between mutation size (CTG expansion) and the severity of cardiac involvement is controversial. METHODS AND RESULTS: We selected 855 patients with myotonic dystrophy type 1 (women, 51%; median age, 37 years), with genetic testing performed at the moment of their initial cardiac evaluation, out of 1014 patients included in the Myotonic Dystrophy Type 1-Heart Registry between January 2000 and December 2015...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28601625/routine-echocardiography-in-patients-with-myotonic-dystrophy-type-1
#9
Teodora Paunic, Stojan Peric, Edita Cvitan, Srdjan Raspopovic, Marina Peric, Gorana Mandic Stojmenovic, Vidosava Rakocevic Stojanovic
BACKGROUND: Myotonic dystrophy type 1 (DM1) is an autosomal-dominant disease. One third of DM1 patients die suddenly, most of them due to the heart conduction abnormalities and arrhythmias. The aim of this study was to analyze echocardiographic findings in a large cohort of DM1 patients. METHODS: This retrospective study comprised 111 patients and 71 healthy controls (HCs) matched for gender and age. RESULTS: Mitral valve (MV) prolapse was observed in 23% of our DM1 patients vs...
June 7, 2017: Journal of the Chinese Medical Association: JCMA
https://www.readbyqxmd.com/read/28600825/temporomandibular-dysfunction-in-adult-patients-with-myotonic-dystrophy-dm1
#10
REVIEW
C Mejersjö, S Kiliaridis
Myotonic muscle dystrophy is a systemic disease with early engagement of the facial muscles. Our aim was to study dysfunction of the temporomandibular system in patients with 'classic' dystrophia myotonica (DM1) and compare it with TMD patients and healthy controls. The study included 27 referred patients with DM1, 18 women and 9 men, aged 30-62 years, and two matched control groups: patients with temporomandibular disorders symptoms (TMD) and healthy controls, both groups were consecutive patients. The patients answered questions regarding facial pain, jaw function and dysfunction...
June 10, 2017: Journal of Oral Rehabilitation
https://www.readbyqxmd.com/read/28598855/risk-for-complications-after-pacemaker-or-cardioverter-defibrillator-implantations-in-patients-with-myotonic-dystrophy-type-1
#11
Maximilien Sochala, Karim Wahbi, Emmanuel Sorbets, Arnaud Lazarus, Henri-Marc Bécane, Tanya Stojkovic, Abdallah Fayssoil, Pascal Laforêt, Anthony Béhin, Marjorie Sroussi, Bruno Eymard, Denis Duboc, Christophe Meune
BACKGROUND: Pacemakers (PM) and implantable cardioverter defibrillators (ICD) may be indicated for sudden death prevention in myotonic dystrophy type 1 (DM1), however the risk of complications after the placement of these devices is unknown. OBJECTIVE: To compare the rate of device-related complications between PM and ICD implantations in patients with DM1. METHODS: Among 914 patients with DM1 included in the DM1 Heart Registry between January 2000 and January 2010, we retrospectively selected 23 patients who were implanted with an ICD and matched them to 46 controls with a PM on age, gender, and year of device placement...
June 6, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28597104/-upper-abdominal-pain-nausea-and-vomiting-in-a-63-year-old-woman
#12
S Schwarzer, K Rapis
We present a case of myotonic dystrophy type I and its complications including cholangitis and cardiac arrhythmias. The therapy options focus on the consequences of the disease and result in an endoscopic retrograde cholangiography (ERC) and implantation of an implantable cardioverter-defibrillator (ICD). Myotonic dystrophy is a disease which results in a loss of smooth and skeletal muscle cells leading to multiple consequences such as gastrointestinal symptoms and cardiac manifestations.
June 8, 2017: Der Internist
https://www.readbyqxmd.com/read/28594857/noninvasive-assessment-of-respiratory-muscle-strength-and-activity-in-myotonic-dystrophy
#13
Morgana de Araújo Evangelista, Fernando Augusto Lavezzo Dias, Mário Emílio Teixeira Dourado Júnior, George Carlos do Nascimento, Antonio Sarmento, Lucien Peroni Gualdi, Andrea Aliverti, Vanessa Resqueti, Guilherme Augusto de Freitas Fregonezi
OBJECTIVE: To evaluate sensitivity/specificity of the maximum relaxation rate (MRR) of inspiratory muscles, amplitude of electromyographic activity of the sternocleidomastoid (SCM), scalene (SCA), parasternal (2ndIS) and rectus abdominis (RA) muscles; lung function and respiratory muscle strength in subjects with Myotonic dystrophy type 1 (DM1) compared with healthy subjects. DESIGN AND METHODS: Quasi-experimental observational study with control group. MRR of inspiratory muscles, lung function and amplitude of the electromyographic activity of SCM, SCA, 2ndIS and RA muscles during maximum inspiratory pressure (PImax), maximum expiratory pressure (PEmax) and sniff nasal inspiratory pressure (SNIP) tests were assessed in eighteen DM1 subjects and eleven healthy...
2017: PloS One
https://www.readbyqxmd.com/read/28591397/ophthalmological-findings-in-myotonic-dystrophy
#14
Maddalena De Bernardo, Valeria Russo, Nicola Rosa
No abstract text is available yet for this article.
May 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28588248/expanded-ccug-repeat-rna-expression-in-drosophila-heart-and-muscle-trigger-myotonic-dystrophy-type-1-like-phenotypes-and-activate-autophagocytosis-genes
#15
Estefania Cerro-Herreros, Mouli Chakraborty, Manuel Pérez-Alonso, Rubén Artero, Beatriz Llamusí
Myotonic dystrophies (DM1-2) are neuromuscular genetic disorders caused by the pathological expansion of untranslated microsatellites. DM1 and DM2, are caused by expanded CTG repeats in the 3'UTR of the DMPK gene and CCTG repeats in the first intron of the CNBP gene, respectively. Mutant RNAs containing expanded repeats are retained in the cell nucleus, where they sequester nuclear factors and cause alterations in RNA metabolism. However, for unknown reasons, DM1 is more severe than DM2. To study the differences and similarities in the pathogenesis of DM1 and DM2, we generated model flies by expressing pure expanded CUG ([250]×) or CCUG ([1100]×) repeats, respectively, and compared them with control flies expressing either 20 repeat units or GFP...
June 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28582438/in-silico-discovery-of-substituted-pyrido-2-3-d-pyrimidines-and-pentamidine-like-compounds-with-biological-activity-in-myotonic-dystrophy-models
#16
Àlex L González, Piotr Konieczny, Beatriz Llamusi, Estefanía Delgado-Pinar, José I Borrell, Jordi Teixidó, Enrique García-España, Manuel Pérez-Alonso, Roger Estrada-Tejedor, Rubén Artero
Myotonic dystrophy type 1 (DM1) is a rare multisystemic disorder associated with an expansion of CUG repeats in mutant DMPK (dystrophia myotonica protein kinase) transcripts; the main effect of these expansions is the induction of pre-mRNA splicing defects by sequestering muscleblind-like family proteins (e.g. MBNL1). Disruption of the CUG repeats and the MBNL1 protein complex has been established as the best therapeutic approach for DM1, hence two main strategies have been proposed: targeted degradation of mutant DMPK transcripts and the development of CUG-binding molecules that prevent MBNL1 sequestration...
2017: PloS One
https://www.readbyqxmd.com/read/28566162/brain-positron-emission-tomography-in-patients-with-myotonic-dystrophy-type-1-and-type-2
#17
Stojan Peric, Leposava Brajkovic, Bozidar Belanovic, Vera Ilic, Biljana Salak-Djokic, Ivana Basta, Vidosava Rakocevic Stojanovic
AIM: To determine regions of reduced brain metabolism in patients with myotonic dystrophy type 1 (DM1) and type 2 (DM2) using 18F-fluoro-2-deoxy-d-glucose positron emission tomography (FDG-PET), and to analyse their potential association with cognitive deficit. METHOD: Study included 29 patients (16 DM1 and 13 DM2). FDG-PET and detailed neuropsychological testing were performed in both groups. RESULTS: The most common cognitive findings were executive, visuospatial, and naming dysfunction in DM1, and executive and naming dysfunction in DM2...
July 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28561926/quantitative-sonographic-assessment-of-myotonia
#18
Alon Abraham, Ari Breiner, Carolina Barnett, Vera Bril, Hans D Katzberg
INTRODUCTION: The goal of this study was to explore ultrasound imaging for qualitative and quantitative assessment of myotonia. METHODS: 16 patients with myotonia and 16 controls underwent sonographic evaluation of the thenar eminence muscles to assess the relaxation time after muscle percussion. RESULTS: The mean time for complete muscle relaxation in patients with myotonia was longer than that of controls. A cut-off of >0.9 seconds for myotonia detection had a sensitivity of 88% and a specificity of 100%...
May 31, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28557061/classification-of-involuntary-movements-in-dogs-myoclonus-and-myotonia
#19
REVIEW
M Lowrie, L Garosi
Myoclonus is a sudden brief, involuntary muscle jerk. Of all the movement disorders, myoclonus is the most difficult to encapsulate into any simple framework. On the one hand, a classification system is required that is clinically useful to aid in guiding diagnosis and treatment. On the other hand, there is need for a system that organizes current knowledge regarding biological mechanisms to guide scientific research. These 2 needs are distinct, making it challenging to develop a robust classification system suitable for all purposes...
May 30, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28550978/left-ventricular-longitudinal-strain-impairment-predicts-cardiovascular-events-in-asymptomatic-type-1-myotonic-dystrophy
#20
Rodrigue Garcia, Michaela Rehman, Cyril Goujeau, Bruno Degand, François Le Gal, Benjamin Stordeur, Quentin Labarre, Luc Christiaens, Claire Bouleti
BACKGROUND: Type 1 myotonic dystrophy (DM1) patients' prognosis is very poor. Up until now, only a few prognostic factors for cardiovascular events have been identified, and they are predictive of end-stage disease. The aim was to assess the prognostic value of global longitudinal strain (GLS) for cardiovascular events in asymptomatic DM1 patients. METHODS: DM1 patients were included between 2011 and 2015 and followed up until January 2016. Patients underwent a transthoracic echocardiography at inclusion...
May 19, 2017: International Journal of Cardiology
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