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https://www.readbyqxmd.com/read/29136408/fuchs-endothelial-and-myotonic-dystrophies-corneal-dystrophy-in-myotonic-patients
#1
Maddalena De Bernardo, Nicola Rosa
No abstract text is available yet for this article.
November 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29121498/cardiac-involvement-in-myotonic-dystrophy-the-role-of-troponins-and-n-terminal-pro-b-type-natriuretic-peptide
#2
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/29120897/corneal-endothelial-and-myotonic-dystrophy
#3
Maddalena De Bernardo, Nicola Rosa
No abstract text is available yet for this article.
November 8, 2017: Cornea
https://www.readbyqxmd.com/read/29116570/mri-hydrographic-3d-sequences-myotonic-dystrophy-type-1-meets-cadasil
#4
Dimitri Renard, Nicolas Menjot de Champfleur
No abstract text is available yet for this article.
November 7, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29114849/risk-of-skin-cancer-among-patients-with-myotonic-dystrophy-type-1-based-on-primary-care-physician-data-from-the-united-kingdom-clinical-practice-research-datalink
#5
Youjin Wang, Ruth M Pfeiffer, Rotana Alsaggaf, Wilhelmine Meeraus, Julia C Gage, Lesley A Anderson, Renée C Bremer, Nikoletta Nikolenko, Hanns Lochmuller, Mark H Greene, Shahinaz M Gadalla
Myotonic dystrophy type 1 (DM1) is an inherited multisystem neuromuscular disorder caused by a CTG trinucleotide repeat expansion in the DMPK gene. Recent evidence documents that DM1 patients have an increased risk of certain cancers, but whether skin cancer risks are elevated is unclear. Using the U.K. Clinical Practice Research Datalink (CPRD), we identified 1,061 DM1 patients and 15,119 DM1-free individuals matched on gender, birth year (±2 years), attending practice, and registration year (±1 year). We calculated the hazard ratios (HRs) and 95% confidence intervals (CIs) for the association of DM1 diagnosis with skin cancer risk using Cox proportional hazards models, for all skin cancers combined and by histological subtype...
November 7, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29113982/nanopore-sequencing-of-complex-genomic-rearrangements-in-yeast-reveals-mechanisms-of-repeat-mediated-double-strand-break-repair
#6
Ryan J McGinty, Rachel G Rubinstein, Alexander J Neil, Margaret Dominska, Denis Kiktev, Thomas D Petes, Sergei M Mirkin
Improper DNA double-strand break (DSB) repair results in complex genomic rearrangements (CGRs) in many cancers and various congenital disorders in humans. Trinucleotide repeat sequences, such as (GAA)n repeats in Friedreich's ataxia, (CTG)n repeats in myotonic dystrophy and (CGG)n repeats in fragile X syndrome, are also subject to double strand breaks within the repetitive tract followed by DNA repair. Mapping the outcomes of CGRs is important for understanding their causes and potential phenotypic effects...
November 7, 2017: Genome Research
https://www.readbyqxmd.com/read/29095898/brain-gray-matter-structural-network-in-myotonic-dystrophy-type-1
#7
Atsuhiko Sugiyama, Daichi Sone, Noriko Sato, Yukio Kimura, Miho Ota, Norihide Maikusa, Tomoko Maekawa, Mikako Enokizono, Madoka Mori-Yoshimura, Yasushi Ohya, Satoshi Kuwabara, Hiroshi Matsuda
This study aimed to investigate abnormalities in structural covariance network constructed from gray matter volume in myotonic dystrophy type 1 (DM1) patients by using graph theoretical analysis for further clarification of the underlying mechanisms of central nervous system involvement. Twenty-eight DM1 patients (4 childhood onset, 10 juvenile onset, 14 adult onset), excluding three cases from 31 consecutive patients who underwent magnetic resonance imaging in a certain period, and 28 age- and sex- matched healthy control subjects were included in this study...
2017: PloS One
https://www.readbyqxmd.com/read/29091763/aberrant-myokine-signaling-in-congenital-myotonic-dystrophy
#8
Masayuki Nakamori, Kohei Hamanaka, James D Thomas, Eric T Wang, Yukiko K Hayashi, Masanori P Takahashi, Maurice S Swanson, Ichizo Nishino, Hideki Mochizuki
Myotonic dystrophy types 1 (DM1) and 2 (DM2) are dominantly inherited neuromuscular disorders caused by a toxic gain of function of expanded CUG and CCUG repeats, respectively. Although both disorders are clinically similar, congenital myotonic dystrophy (CDM), a severe DM form, is found only in DM1. CDM is also characterized by muscle fiber immaturity not observed in adult DM, suggesting specific pathological mechanisms. Here, we revealed upregulation of the interleukin-6 (IL-6) myokine signaling pathway in CDM muscles...
October 31, 2017: Cell Reports
https://www.readbyqxmd.com/read/29088983/what-the-internist-should-know-about-hereditary-muscle-channelopathies
#9
Véronique Bissay, Sophie C H Van Malderen
OBJECTIVES: Non-dystrophic myotonia, periodic paralysis and, to a certain extent, myotonic dystrophies are rare hereditary skeletal muscle channelopathies, charactarized by myotonia or episodic muscle weakness. This review highlights the diagnostic challenges and treatment options. RESULTS: Some of these rare skeletal muscle disorders are associated with a broad range of systemic and nonspecific muscle symptoms. Consequently, patients are often referred to the internist before seeing a neurologist...
October 31, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29079470/small-molecule-alteration-of-rna-sequence-in-cells-and-animals
#10
Lirui Guan, Yiling Luo, William W Ja, Matthew D Disney
RNA regulation and maintenance are critical for proper cell function. Small molecules that specifically alter RNA sequence would be exceptionally useful as probes of RNA structure and function or as potential therapeutics. Here, we demonstrate a photochemical approach for altering the trinucleotide expanded repeat causative of myotonic muscular dystrophy type 1 (DM1), r(CUG)(exp). The small molecule, 2H-4-Ru, binds to r(CUG)(exp) and converts guanosine residues to 8-oxo-7,8-dihydroguanosine upon photochemical irradiation...
October 18, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/29075942/dna-mismatch-repair-in-trinucleotide-repeat-instability
#11
REVIEW
Jinzhen Guo, Luping Chen, Guo-Min Li
Trinucleotide repeat expansions cause over 30 severe neuromuscular and neurodegenerative disorders, including Huntington's disease, myotonic dystrophy type 1, and fragile X syndrome. Although previous studies have substantially advanced the understanding of the disease biology, many key features remain unknown. DNA mismatch repair (MMR) plays a critical role in genome maintenance by removing DNA mismatches generated during DNA replication. However, MMR components, particularly mismatch recognition protein MutSβ and its interacting factors MutLα and MutLγ, have been implicated in trinucleotide repeat instability...
October 24, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/29072789/abnormally-invasive-placentation-in-a-woman-with-congenital-myotonic-dystrophy
#12
Lise-Marie Dorcier, Frédéric Coatleven, Hugo Madar, Loïc Sentilhes
The present report describes the case of a woman with myotonic dystrophy aged 32 years, with a gravidity of 1, whose spontaneous pregnancy was complicated by vaginal bleeding at 36 weeks. The patient's medical history was unremarkable except for the myotonic dystrophy. Ultrasonography revealed a low-lying posterior placenta. This article is protected by copyright. All rights reserved.
October 26, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29066035/lower-limb-muscle-magnetic-resonance-imaging-in-myotonic-dystrophy-type-1-correlates-with-the-six-minute-walk-test-and-ctg-repeats
#13
Donghwi Park, Sang-Hoon Lee, Jin-Hong Shin, Jin-Sung Park
The aim of this study was to elucidate correlations among clinical, genetic, and magnetic resonance imaging (MRI) data of muscles in myotonic dystrophy type 1 (DM1). We retrospectively reviewed the medical records and images of nineteen patients with DM1 from different families. We retrieved the genetic data (CTG repeats) and the clinical data, which included disease duration, creatine kinase level, sum score of manual muscle testing, modified Medical Research Council sum score, and the six-minute walk test results (6MWT)...
August 24, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29056323/impeding-transcription-of-expanded-microsatellite-repeats-by-deactivated-cas9
#14
Belinda S Pinto, Tanvi Saxena, Ruan Oliveira, Héctor R Méndez-Gómez, John D Cleary, Lance T Denes, Ona McConnell, Juan Arboleda, Guangbin Xia, Maurice S Swanson, Eric T Wang
Transcription of expanded microsatellite repeats is associated with multiple human diseases, including myotonic dystrophy, Fuchs endothelial corneal dystrophy, and C9orf72-ALS/FTD. Reducing production of RNA and proteins arising from these expanded loci holds therapeutic benefit. Here, we tested the hypothesis that deactivated Cas9 enzyme impedes transcription across expanded microsatellites. We observed a repeat length-, PAM-, and strand-dependent reduction of repeat-containing RNAs upon targeting dCas9 directly to repeat sequences; targeting the non-template strand was more effective...
November 2, 2017: Molecular Cell
https://www.readbyqxmd.com/read/29056268/successful-treatment-of-a-patient-with-statin-induced-myopathy-and-myotonic-dystrophy-type-ii-with-proprotein-convertase-subtilisin-kexin-type-9-inhibitor-alirocumab-praluent
#15
Mohamed K M Shakir, Terry Shin, Thanh D Hoang, Vinh Q Mai
Presently there are limited treatment options for hypercholesterolemia in patients with statin intolerance and myotonic dystrophy. A 74 year-old male presented to endocrine clinic with hypercholesterolemia (serum LDL-C 210 mg/dL), hypogonadism, insulin-controlled type 2 diabetes mellitus, and minimally elevated serum creatine kinase (CK) levels (184 U/L, ref. range 38-174). Shortly after simvastatin treatment, patient developed severe myalgias in the proximal lower and upper extremities; and serum CK increased to 317 U/L...
September 4, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29054426/origin-of-the-myotonic-dystrophy-type-1-mutation-in-mexican-population-and-influence-of-amerindian-ancestry-on-ctg-repeat-allelic-distribution
#16
N M Murillo-Melo, L C Márquez-Quiróz, R Gómez, L Orozco, E Mendoza-Caamal, Y S Tapia-Guerrero, R Camacho-Mejorado, H Cortés, A López-Reyes, C Santana, G Noris, O Hernández-Hernández, B Cisneros, J J Magaña
Myotonic dystrophy type 1 is caused by expansion of a CTG trinucleotide repeat situated in the DMPK gene. Worldwide genetic studies suggest a single or limited number of mutational events cause the disease. However, distribution of CTG alleles and disease incidence varies among ethnicities. Due to the great ethnic diversity of the Mexican population, the present study was aimed at analyzing the impact of different lineages in shaping the CTG-repeat allelic distribution in the contemporary Mexican-Mestizo population as well as to shed light on the DM1 ancestral origin...
September 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29053894/french-translation-and-cross-cultural-adaptation-of-the-myotonic-dystrophy-health-index-mdhi
#17
Cynthia Gagnon, Marjolaine Tremblay, Isabelle Côté, Chad Heatwole
INTRODUCTION: Validation studies of disease-specific instruments for myotonic dystrophy type-1 (DM1) are required prior to their global use in clinical trials involving different cultures and countries. Here we translate and culturally adapt the Myotonic Dystrophy Health Index (MDHI), a disease-specific patient reported outcome measure, for a French DM1 population. METHOD: Using the ISPOR Task Force method for translation and adaptation of patient-reported outcome questionnaires, we created a French translation of the MDHI...
October 20, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29050397/the-antimyotonic-effect-of-lamotrigine-in-non-dystrophic-myotonias-a-double-blind-randomized-study
#18
RANDOMIZED CONTROLLED TRIAL
Grete Andersen, Gitte Hedermann, Nanna Witting, Morten Duno, Henning Andersen, John Vissing
Mexiletine is the only drug with proven effect for treatment of non-dystrophic myotonia, but mexiletine is expensive, has limited availability and several side effects. There is therefore a need to identify other pharmacological compounds that can alleviate myotonia in non-dystrophic myotonias. Like mexiletine, lamotrigine is a sodium channel blocker, but unlike mexiletine, lamotrigine is available, inexpensive, and well tolerated. We investigated the potential of using lamotrigine for treatment of myotonia in patients with non-dystrophic myotonias...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29043641/measuring-dynamic-behavior-of-trinucleotide-repeat-tracts-in-vivo-in-saccharomyces-cerevisiae
#19
Gregory M Williams, Jennifer A Surtees
Trinucleotide repeat (TNR) tracts are inherently unstable during DNA replication, leading to repeat expansions and/or contractions. Expanded tracts are the cause of over 40 neurodegenerative and neuromuscular diseases. In this chapter, we focus on the (CNG)n repeat sequences that, when expanded, lead to Huntington's disease (HD), myotonic dystrophy type 1 (DM1), and a number of other neurodegenerative diseases. We describe a series of in vivo assays, using the model system Saccharomyces cerevisiae, to determine and characterize the dynamic behavior of TNR tracts that are in the early stages of expansion, i...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29036654/detection-of-expanded-rna-repeats-using-thermostable-group-ii-intron-reverse-transcriptase
#20
Samuel T Carrell, Zhenzhi Tang, Sabine Mohr, Alan M Lambowitz, Charles A Thornton
Cellular accumulation of repetitive RNA occurs in several dominantly-inherited genetic disorders. Expanded CUG, CCUG or GGGGCC repeats are expressed in myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2), or familial amyotrophic lateral sclerosis, respectively. Expanded repeat RNAs (ER-RNAs) exert a toxic gain-of-function and are prime therapeutic targets in these diseases. However, efforts to quantify ER-RNA levels or monitor knockdown are confounded by stable structure and heterogeneity of the ER-RNA tract and background signal from non-expanded repeats...
October 3, 2017: Nucleic Acids Research
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