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https://www.readbyqxmd.com/read/28719515/anaesthetic-management-of-patients-with-myopathies
#1
Mark Schieren, Jerome Defosse, Andreas Böhmer, Frank Wappler, Mark U Gerbershagen
: The anaesthetic management of patients with myopathies is challenging. Considering the low incidence and heterogeneity of these disorders, most anaesthetists are unfamiliar with key symptoms, associated co-morbidities and implications for anaesthesia. The pre-anaesthetic assessment aims at the detection of potentially undiagnosed myopathic patients and, in case of known or suspected muscular disease, on the quantification of disease progression. Ancillary testing (e.g. echocardiography, ECG, lung function testing etc...
July 15, 2017: European Journal of Anaesthesiology
https://www.readbyqxmd.com/read/28718627/structural-basis-for-interaction-of-the-tandem-zinc-finger-domains-of-human-muscleblind-with-cognate-rna-from-human-cardiac-troponin-t
#2
Sangho Park, Priti Deka Phukan, Markus Zeeb, Maria A Martinez-Yamout, Helen Jane Dyson, Peter E Wright
The human muscleblind-like proteins (MBNL) regulate tissue-specific splicing by targeting cardiac troponin T and other pre-mRNAs; aberrant targeting of CUG and CCUG repeat expansions frequently accompanies the neuromuscular disease myotonic dystrophy. We show, using biolayer interferometry (Octet), and NMR spectroscopy, that the zinc finger domains of MBNL isoform 1 (MBNL1) are necessary and sufficient for binding CGCU sequences within the pre-mRNA of human cardiac troponin T (hcTnT). Protein constructs containing zinc fingers 1 and 2 (zf12) and zinc fingers 3 and 4 (zf34) of MBNL1 each fold into a compact globular tandem zinc finger structure that participates in RNA binding...
July 18, 2017: Biochemistry
https://www.readbyqxmd.com/read/28717044/congenital-myotonic-dystrophy-an-rna-mediated-disease-across-a-developmental-continuum
#3
REVIEW
Sujatha Jagannathan, Robert K Bradley
Thomas and colleagues (pp. 1122-1133) demonstrate severe dysregulation of developmentally regulated alternative splicing and polyadenylation in congenital myotonic dystrophy (CDM). In doing so, they also highlight the importance of these post-transcriptional processes during normal fetal muscle development. Finally, they generate and characterize a mouse model of CDM that lacks all three Muscleblind-like proteins.
June 1, 2017: Genes & Development
https://www.readbyqxmd.com/read/28715597/the-proposal-of-a-clinical-protocol-to-assess-central-and-peripheral-fatigue-in-myotonic-dystrophy-type-1
#4
S Baldanzi, G Ricci, M Bottari, L Chico, C Simoncini, G Siciliano
DM1 is an autosomal-dominant disorder characterized by muscle weakness, myotonia, and multisystemic involvement. According to current literature fatigue and daytime sleepiness are among the main symptoms of DM1. Oxidative stress has been proposed to be one of the pathogenic factors of fatigue consequent to DM1. In this study, we investigated the dimensions of experienced fatigue and  physiological fatigue in a sample of 26 DM1 patients (17 males, 9 females, mean age 41.6 years, SD±12.7); experienced fatigue has been studied through Fatigue Severity Scale (FSS), and physiological fatigue was measured through an intermittent incremental exercise of the forearm muscles using a myometer; oxidative stress balance markers trend during aerobic exercise test have been collected...
July 1, 2017: Archives Italiennes de Biologie
https://www.readbyqxmd.com/read/28702961/cutaneous-manifestations-in-steinert%C3%A2-s-disease-apropos-of-four-clinical-cases
#5
F Cona, J Lotti, M Fioranelli, M G Roccia, T Lotti, C Guarneri
Myotonic dystrophy type 1 (MD1) (OMIM 160900, Steinert disease) is the most common muscular disease, with an estimated worldwide prevalence ranging from 0.5 to 18/10,000 (1). MD1 is an autosomal dominant multisystem disorder that affects skeletal and smooth muscles as well as eyes, heart, endocrine system, and central nervous system. Available data on skin and adnexal involvement that has been demonstrated as a hallmark of the neurological disease are still poor. The aim of this case report-based, mini review on MD1 and skin is to highlight the importance of such superficial signs to be easily detected in the physical examination, and to evaluate the occurrence of these cutaneous manifestations in presence of various degrees of the disease and gene mutations...
July 13, 2017: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28698297/disrupted-prenatal-rna-processing-and-myogenesis-in-congenital-myotonic-dystrophy
#6
James D Thomas, Łukasz J Sznajder, Olgert Bardhi, Faaiq N Aslam, Zacharias P Anastasiadis, Marina M Scotti, Ichizo Nishino, Masayuki Nakamori, Eric T Wang, Maurice S Swanson
Myotonic dystrophy type 1 (DM1) is a CTG microsatellite expansion (CTG(exp)) disorder caused by expression of CUG(exp) RNAs. These mutant RNAs alter the activities of RNA processing factors, including MBNL proteins, leading to re-expression of fetal isoforms in adult tissues and DM1 pathology. While this pathogenesis model accounts for adult-onset disease, the molecular basis of congenital DM (CDM) is unknown. Here, we test the hypothesis that disruption of developmentally regulated RNA alternative processing pathways contributes to CDM disease...
June 1, 2017: Genes & Development
https://www.readbyqxmd.com/read/28690389/personality-traits-in-patients-with-myotonic-dystrophy-type-2
#7
Teodora Paunic, Stojan Peric, Aleksandra Parojcic, Dusanka Savic-Pavicevic, Milorad Vujnic, Jovan Pesovic, Ivana Basta, Dragana Lavrnic, Vidosava Rakocevic-Stojanovic
Myotonic dystrophy type 2 (DM2) is a multisystem disorder that affects many organs and systems, including the brain. The objective is to analyze personality patterns in myotonic dystrophy type 2 (DM2) compared to DM1 control group. The study comprised 27 consecutive genetically confirmed DM2 patients and control group of 44 DM1 patients. Personality traits were assessed with the Millon Multiaxial Clinical Inventory III (MMCI III). In DM2 group there were no scale with pathological scores, although compulsive and paranoid traits were the most prominent...
March 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28673557/long-term-follow-up-of-motor-function-and-muscle-strength-in-the-congenital-and-childhood-forms-of-myotonic-dystrophy-type-1
#8
Anna-Karin Kroksmark, Marie-Louise Stridh, Anne-Berit Ekström
The aims of this study were to explore how motor function and muscle strength change over time in the congenital and childhood forms of myotonic dystrophy type 1, further to investigate whether sex, age, disease severity or size of the mutation could explain these changes. Motor function and isometric muscle strength were evaluated at three occasions during 1999-2013 in 57 patients aged 0.7-28.9 years. Median time between first and last assessment was 11.5 years ranging from 9.6 to 13.3 years. The study shows that motor function improves during the first decade, is most pronounced during the first six years, reaches a plateau during adolescence and starts to deteriorate in the beginning of the second decade...
June 5, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28672420/-30-year-old-patient-with-suspected-marfan-syndrome-and-progressive-gait-disturbance
#9
Maryam Balke, Helmar C Lehmann, Gereon R Fink, Gilbert Wunderlich
History A 30-year-old man presented with a history of progressive muscle weakness, difficulty in concentrating, and a slender habitus since early childhood. Marfan syndrome was suspected since the age of 14. Examinations 13 years later he was examined by Marfan experts and by genetic testing and Marfan syndrome could not be confirmed. Further neurological examination revealed the suspected diagnosis of myotonic dystrophy type 1, which was confirmed by genetic testing. Treatment and course Similar to Marfan syndrome, myotonic dystrophy is a multisystemic disorder with the risk of cardiac arrythmias...
July 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28662944/skeletal-muscle-channelopathies-rare-disorders-with-common-pediatric-symptoms
#10
Emma Matthews, Arpana Silwal, Richa Sud, Michael G Hanna, Adnan Y Manzur, Francesco Muntoni, Pinki Munot
OBJECTIVE: To ascertain the presenting symptoms of children with skeletal muscle channelopathies to promote early diagnosis and treatment. STUDY DESIGN: Retrospective case review of 38 children with a skeletal muscle channelopathy attending the specialist pediatric neuromuscular service at Great Ormond Street Hospital over a 15-year period. RESULTS: Gait disorder and leg cramps are a frequent presentation of myotonic disorders (19 of 29). Strabismus or extraocular myotonia (9 of 19) and respiratory and/or bulbar symptoms (11 of 19) are common among those with sodium channelopathy...
June 26, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28662292/benign-and-malignant-tumors-in-the-uk-myotonic-dystrophy-patient-registry
#11
Rotana Alsaggaf, Youjin Wang, Chiara Marini-Bettolo, Libby Wood, Nikoletta Nikolenko, Hanns Lochmüller, Mark H Greene, Shahinaz M Gadalla
INTRODUCTION: In light of recent evidence that cancer is part of the myotonic dystrophy (DM) phenotype, we assessed the prevalence of benign and malignant tumors among 220 patients enrolled in the UK Myotonic Dystrophy Patient Registry, and evaluated factors associated with their development. METHODS: A survey was distributed to collect tumor history and lifestyle information. We used multinomial logistic regression for the analysis. RESULTS: Thirty-nine benign (30 patients), and 16 malignant (15 patients) tumors were reported...
June 29, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28660733/prospective-measurement-of-quality-of-life-in-myotonic-dystrophy-type-1
#12
S Peric, C Heatwole, E Durovic, A Kacar, A Nikolic, I Basta, A Marjanovic, Z Stevic, D Lavrnic, V Rakocevic Stojanovic
INTRODUCTION: Generic patient reported outcome measures have had varied success in tracking QoL in myotonic dystrophy type 1 (DM1). AIM: To analyze changes of Individualized Neuromuscular Quality of Life questionnaire (INQoL) scores in clinic patients with DM1 over a 6-year period. METHOD: Patients completed the INQoL at baseline and after a 6-year period through their attendance in a neurology outpatient clinic. Severity of muscular involvement in DM1 was analyzed using the Muscular Impairment Rating Scale (MIRS)...
June 28, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28658620/downregulation-of-the-glial-glt1-glutamate-transporter-and-purkinje-cell-dysfunction-in-a-mouse-model-of-myotonic-dystrophy
#13
Géraldine Sicot, Laurent Servais, Diana M Dinca, Axelle Leroy, Cynthia Prigogine, Fadia Medja, Sandra O Braz, Aline Huguet-Lachon, Cerina Chhuon, Annie Nicole, Noëmy Gueriba, Ruan Oliveira, Bernard Dan, Denis Furling, Maurice S Swanson, Ida Chiara Guerrera, Guy Cheron, Geneviève Gourdon, Mário Gomes-Pereira
Brain function is compromised in myotonic dystrophy type 1 (DM1), but the underlying mechanisms are not fully understood. To gain insight into the cellular and molecular pathways primarily affected, we studied a mouse model of DM1 and brains of adult patients. We found pronounced RNA toxicity in the Bergmann glia of the cerebellum, in association with abnormal Purkinje cell firing and fine motor incoordination in DM1 mice. A global proteomics approach revealed downregulation of the GLT1 glutamate transporter in DM1 mice and human patients, which we found to be the result of MBNL1 inactivation...
June 27, 2017: Cell Reports
https://www.readbyqxmd.com/read/28642828/surgical-orthodontic-treatment-of-a-patient-affected-by-type-1-myotonic-dystrophy-steinert-syndrome
#14
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
#15
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
#16
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, consequently 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
#17
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
#18
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
#19
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 consists of 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 29, 2017: Biochemistry
https://www.readbyqxmd.com/read/28611033/repeats-and-survival-in-myotonic-dystrophy-type-1
#20
EDITORIAL
Matthew T Wheeler
No abstract text is available yet for this article.
June 2017: Circulation. Cardiovascular Genetics
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