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https://www.readbyqxmd.com/read/29346286/a-more-efficient-transportable-and-scalable-system-for-real-time-activities-and-exercises-recognition
#1
Kévin Chapron, Valère Plantevin, Florentin Thullier, Kévin Bouchard, Elise Duchesne, Sébastien Gaboury
Many people in the world are affected by muscle wasting, especially the population hits by myotonic dystrophy type 1 (DM1). Those people are usually given a program of multiple physical exercises to do. While DM1 and many other people have difficulties attending commercial centers to realize their program, a solution is to develop such a program completable at home. To this end, we developed a portable system that patients could bring home. This prototype is an improved version of the previous one using Wi-Fi, as this new prototype runs on BLE technology...
January 18, 2018: Sensors
https://www.readbyqxmd.com/read/29343751/altered-power-spectral-density-in-the-resting-state-sensorimotor-network-in-patients-with-myotonic-dystrophy-type-1
#2
Jin-Sung Park, Jeehye Seo, Hyunsil Cha, Hui-Jin Song, Sang-Hoon Lee, Kyung Eun Jang, Hui Joong Lee, Juyoung Park, Ho-Won Lee, Yongmin Chang
Myotonic dystrophy type 1 (DM1) is a multisystemic disease that involves the brain with several neurological symptoms. Although there were few imaging studies on DM1, no studies have investigated functional alterations in the sensorimotor network at rest in patients with DM1. In the current study, a power spectral density (PSD) analysis of resting-state fMRI data was performed to assess possible alteration in spontaneous neural activity of the sensorimotor network in patients with DM1. Compared to healthy controls, patients with DM1 showed higher PSD responses in the orbitofrontal cortex, parahippocampus and basal ganglia (corrected P < 0...
January 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29343467/hearing-impairment-in-patients-with-myotonic-dystrophy-type-2
#3
Judith van Vliet, Alide A Tieleman, Baziel G M van Engelen, Guillaume Bassez, Laurent Servais, Anthony Béhin, Tanya Stojkovic, Jan Meulstee, Joost A M Engel, George Lamas, Bruno Eymard, Wim I M Verhagen, Elisabeth Mamelle
OBJECTIVE: To systematically assess auditory characteristics of a large cohort of patients with genetically confirmed myotonic dystrophy type 2 (DM2). METHODS: Patients with DM2 were included prospectively in an international cross-sectional study. A structured interview about hearing symptoms was held. Thereafter, standardized otologic examination, pure tone audiometry (PTA; 0.25, 0.5, 1, 2, 4, and 8 kHz), speech audiometry, tympanometry, acoustic middle ear muscle reflexes, and brainstem auditory evoked potentials (BAEP) were performed...
January 17, 2018: Neurology
https://www.readbyqxmd.com/read/29342319/validation-of-the-individualized-neuromuscular-quality-of-life-in-japanese-patients-with-myotonic-dystrophy
#4
Haruo Fujino, Toshio Saito, Masanori P Takahashi, Hiroto Takada, Takahiro Nakayama, Katsuhisa Ogata, Michael R Rose, Osamu Imura, Tsuyoshi Matsumura
INTRODUCTION: The Individualized Neuromuscular Quality of Life (INQoL) is used to measure the quality of life (QoL) of patients with neuromuscular disease. We conducted this study to translate and validate the Japanese version of the INQoL in patients with myotonic dystrophy. METHODS: Forward and backward translation, patient testing, and psychometric validation were performed. We used the SF-36 Health Survey and the modified Rankin scale for concurrent validation...
January 17, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29334465/design-of-mini-nucleic-acid-probe-for-cooperative-binding-of-rna-repeated-transcript-associated-with-myotonic-dystrophy-type-1
#5
Wei-Che Hsieh, Raman Bahal, Shivaji Thadke, Kirti Bhatt, Krzysztof Sobczak, Charles A Thornton, Danith H Ly
Toxic RNAs containing expanded trinucleotide repeats are the cause of many neuromuscular disorders, one being myotonic dystrophy type 1 (DM1). DM1 is triggered by CTG-repeat expansion in the 3'-UTR of the DMPK gene, resulting in toxic-gain of RNA function through sequestration of MBNL1 protein, among others. Herein we report the development of a relatively short MPPNA probe, two triplet-repeats in length, containing terminal pyrene moieties, that is capable of binding rCUG-repeats in a sequence-specific and selective manner...
January 15, 2018: Biochemistry
https://www.readbyqxmd.com/read/29331264/altered-levels-of-the-splicing-factor-muscleblind-modifies-cerebral-cortical-function-in-mouse-models-of-myotonic-dystrophy
#6
Gang Chen, Russell E Carter, John D Cleary, Tammy S Reid, Laura P Ranum, Maurice S Swanson, Timothy J Ebner
Myotonic dystrophy (DM) is a progressive, multisystem disorder affecting skeletal muscle, heart, and central nervous system. In both DM1 and DM2, microsatellite expansions of CUG and CCUG RNA repeats, respectively, accumulate and disrupt functions of alternative splicing factors, including muscleblind (MBNL) proteins. Grey matter loss and white matter changes, including the corpus callosum, likely underlie cognitive and executive function deficits in DM patients. However, little is known how cerebral cortical circuitry changes in DM...
January 10, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29328504/myotonic-dystrophy-patient-preferences-in-patient-reported-outcome-measures
#7
Chad Heatwole, Nicholas Johnson, Jeanne Dekdebrun, Nuran Dilek, Kate Eichinger, James Hilbert, Elizabeth Luebbe, William Martens, Michael P McDermott, Charles Thornton, Richard Moxley
INTRODUCTION: In preparation for clinical trials in myotonic dystrophy type-1 (DM1), it is important to develop and identify patient-reported outcome measures with good measurement properties. METHODS: Fifty-two DM1 patients enrolled in two clinical studies completed the Myotonic Dystrophy Health Index (MDHI), SF-36v2, Individualized Neuromuscular Quality of Life questionnaire (NQoL), and a questionnaire comparing the relevance, usability, overall preference, and perceived responsiveness of each measure...
January 12, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29327796/speech-characteristics-in-the-congenital-and-childhood-onset-forms-of-myotonic-dystrophy-type-1
#8
Lotta Sjögreen, Åsa Mårtensson, Anne-Berit Ekström
BACKGROUND: Myotonic dystrophy type 1 (DM1) is a slowly progressive multi-systemic disease with an autosomal-dominant inheritance caused by a mutation on chromosome 19 (19q13.3). AIMS: To explore speech characteristics in a group of individuals with the congenital and childhood-onset forms of DM1 in terms of intelligibility, speech-sound production, nasality and compensatory articulation. A further aim was to analyse whether speech characteristics were correlated to subforms of DM1 and if speech outcome could be related to muscle strength...
January 12, 2018: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/29327083/r-loops-targets-for-nuclease-cleavage-and-repeat-instability
#9
REVIEW
Catherine H Freudenreich
R-loops form when transcribed RNA remains bound to its DNA template to form a stable RNA:DNA hybrid. Stable R-loops form when the RNA is purine-rich, and are further stabilized by DNA secondary structures on the non-template strand. Interestingly, many expandable and disease-causing repeat sequences form stable R-loops, and R-loops can contribute to repeat instability. Repeat expansions are responsible for multiple neurodegenerative diseases, including Huntington's disease, myotonic dystrophy, and several types of ataxias...
January 11, 2018: Current Genetics
https://www.readbyqxmd.com/read/29325606/repeat-expansion-diseases
#10
Henry Paulson
More than 40 diseases, most of which primarily affect the nervous system, are caused by expansions of simple sequence repeats dispersed throughout the human genome. Expanded trinucleotide repeat diseases were discovered first and remain the most frequent. More recently tetra-, penta-, hexa-, and even dodeca-nucleotide repeat expansions have been identified as the cause of human disease, including some of the most common genetic disorders seen by neurologists. Repeat expansion diseases include both causes of myotonic dystrophy (DM1 and DM2), the most common genetic cause of amyotrophic lateral sclerosis/frontotemporal dementia (C9ORF72), Huntington disease, and eight other polyglutamine disorders, including the most common forms of dominantly inherited ataxia, the most common recessive ataxia (Friedreich ataxia), and the most common heritable mental retardation (fragile X syndrome)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29323790/rna-templated-concatenation-of-triplet-nucleic-acid-probe
#11
Danith H Ly, Raman Bahal, Arunava Manna, Wei-Che Hsieh, Shivaji A Thadke, Gopalsamy Sureshkumar
Template-directed synthesis offers several distinct benefits over conventional laboratory creation, including unsurpassed reaction rate and selectivity. While it is central to many biological processes, such an approach has rarely been applied to the in-situ synthesis and recognition of biomedically relevant target. Towards this goal, we report the development of a three-codon nucleic acid probe containing C-terminal thioester and N-terminal cysteine that is capable of undergoing template-directed oligomerization in the presence of RNA target, and self-deactivation in its absence...
January 11, 2018: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/29311426/electrophysiological-and-histopathological-findings-of-muscular-disease-suspected-as-myotonic-dystrophy-in-a-shiba-dog
#12
Takanori Shiga, Seiichi Okuno, Kazuyuki Uchida, James K Chambers, Hiroyuki Nakayama
An 8-year-old male Japanese Shiba exhibited muscle wasting and a stiff gait. A low-amplitude myotonic discharge was recorded by needle electromyography (EMG). A histopathological examination on a tru-cut biopsy sample from the muscle revealed myofiber size variations. Internal nuclei and cytoplasmic vacuoles were observed in many fibers. A type 1 fiber predominance and many hybrid type fibers were observed immunohistochemically. On the basis of these EMG and histopathological findings, myotonic dystrophy (DM) was suspected as tentative diagnosis...
January 2, 2018: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/29306591/the-frequency-and-risk-factors-for-ischemic-stroke-in-myotonic-dystrophy-type-1-patients
#13
Kosuke Yoshida, Yoko Aburakawa, Yasuhiro Suzuki, Kenji Kuroda, Takashi Kimura
INTRODUCTION: Patients with myotonic dystrophy type 1 have several cardiac abnormalities, especially myocardial conduction disorders. Few studies have investigated cerebral infarction. We investigated the frequency of both symptomatic and asymptomatic ischemic strokes in patients with myotonic dystrophy type 1. METHODS: Patients who were diagnosed with myotonic dystrophy type 1 using genetic testing or clinical examinations at Asahikawa Medical Center were included...
January 3, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29296622/relationships-between-grip-strength-myotonia-and-ctg-expansion-in-myotonic-dystrophy-type-1
#14
Jean-Yves Hogrel, Gwenn Ollivier, Isabelle Ledoux, Luc J Hébert, Bruno Eymard, Jack Puymirat, Guillaume Bassez
In myotonic dystrophy type 1, several studies have suggested causal relationships between CTG repeat length and the severity of symptoms, such as weakness or myotonia. We aimed to explore these relationships in a large population of 144 DM1 patients. All patients underwent clinical and functional assessments using a standardized test for grip strength and myotonia assessment. Myotonia was assessed using a fully automatic software based on mathematical modeling of relaxation force curve. CTG repeat length was statistically correlated with both myotonia and grip strength, which are two major primary neuromuscular symptoms of DM1 patients...
December 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29289451/mitochondrial-dysfunction-in-myotonic-dystrophy-type-1
#15
Laura Ludovica Gramegna, Maria Pia Giannoccaro, David Neil Manners, Claudia Testa, Stefano Zanigni, Stefania Evangelisti, Claudio Bianchini, Federico Oppi, Roberto Poda, Patrizia Avoni, Raffaele Lodi, Rocco Liguori, Caterina Tonon
The pathophysiological mechanism linking the nucleotide expansion in the DMPK gene to the clinical manifestations of myotonic dystrophy type 1 (DM1) is still unclear. In vitro studies demonstrate DMPK involvement in the redox homeostasis of cells and the mitochondrial dysfunction in DM1, but in vivo investigations of oxidative metabolism in skeletal muscle have provided ambiguous results and have never been performed in the brain. Twenty-five DM1 patients (14M, 39 ± 11years) underwent brain proton MR spectroscopy (1H-MRS), and sixteen cases (9M, 40 ± 13 years old) also calf muscle phosphorus MRS (31P-MRS)...
November 14, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29278897/reliability-of-the-apathy-evaluation-scale-in-myotonic-dystrophy-type-1
#16
Benjamin Gallais
BACKGROUND: Apathy is a common debilitating symptom of myotonic dystrophy type 1 (DM1). The Apathy Evaluation Scale (AES) has been identified as a promising measurement instrument to be used in DM1 but its metrological properties must be further documented. OBJECTIVE: To determine the internal consistency of the Self (AES-S), Informant (AES-I), and Clinician (AES-C) versions of the AES and to assess the test-retest reliability, standard error of measurement, and minimal detectable change of the AES-S and AES-I in a sample of DM1 patients and their related informants...
December 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29274549/lymphoblastoids-cell-lines-derived-ipsc-line-from-a-26-year-old-myotonic-dystrophy-type-1-patient-carrying-ctg-200-expansion-in-the-dmpk-gene-chuqi001-a
#17
Laurie Martineau, Véronique Racine, Siham Ait Benichou, Jack Puymirat
Human immortalized Epstein-Barr virus (EBV) lymphoblastoids cells line (LCLs) from a 26-year- old male affected by an adult form of myotonic dystrophy type 1 (DM1) disease and carrying 200 CTG repeats mutation in the blood was used to generate induced pluripotent stem cells (iPSCs) using the Sendai virus expressing KLF4, OCT4, SOX2 and C-MYC. The resulting iPSCs were EBV free, expressed the pluripotency markers, could be differentiated into the three germ layers in vitro, had a normal karyotype, and retained the genetic DM1 mutation...
December 16, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29260836/responsiveness-of-performance-based-outcome-measures-for-mobility-balance-muscle-strength-and-manual-dexterity-in-adults-with-myotonic-dystrophy-type-1
#18
Marie Kierkegaard, Émilie Petitclerc, Luc J Hébert, Jean Mathieu, Cynthia Gagnon
OBJECTIVE: To assess changes and responsiveness in outcome measures of mobility, balance, muscle strength and manual dexterity in adults with myotonic dystrophy type 1. DESIGN: A 9-year longitudinal study conducted with 113 patients. METHODS: The responsiveness of the Timed Up and Go test, Berg Balance Scale, quantitative muscle testing, grip and pinch-grip strength, and Purdue Pegboard Test was assessed using criterion and construct approaches...
December 20, 2017: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29246312/crispr-cas9-mediated-deletion-of-ctg-expansions-recovers-normal-phenotype-in-myogenic-cells-derived-from-myotonic-dystrophy-1-patients
#19
Claudia Provenzano, Marisa Cappella, Rea Valaperta, Rosanna Cardani, Giovanni Meola, Fabio Martelli, Beatrice Cardinali, Germana Falcone
Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy, characterized by progressive myopathy, myotonia, and multi-organ involvement. This dystrophy is an inherited autosomal dominant disease caused by a (CTG)n expansion within the 3' untranslated region of the DMPK gene. Expression of the mutated gene results in production of toxic transcripts that aggregate as nuclear foci and sequester RNA-binding proteins, resulting in mis-splicing of several transcripts, defective translation, and microRNA dysregulation...
December 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/29242583/hybrid-splicing-minigene-and-antisense-oligonucleotides-as-efficient-tools-to-determine-functional-protein-rna-interactions
#20
Piotr Cywoniuk, Katarzyna Taylor, Łukasz J Sznajder, Krzysztof Sobczak
Alternative splicing is a complex process that provides a high diversity of proteins from a limited number of protein-coding genes. It is governed by multiple regulatory factors, including RNA-binding proteins (RBPs), that bind to specific RNA sequences embedded in a specific structure. The ability to predict RNA-binding regions recognized by RBPs using whole-transcriptome approaches can deliver a multitude of data, including false-positive hits. Therefore, validation of the global results is indispensable...
December 14, 2017: Scientific Reports
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