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https://www.readbyqxmd.com/read/28915272/receptor-and-post-receptor-abnormalities-contribute-to-insulin-resistance-in-myotonic-dystrophy-type-1-and-type-2-skeletal-muscle
#1
Laura Valentina Renna, Francesca Bosè, Sara Iachettini, Barbara Fossati, Lorenzo Saraceno, Valentina Milani, Roberto Colombo, Giovanni Meola, Rosanna Cardani
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant multisystemic disorders caused by expansion of microsatellite repeats. In both forms, the mutant transcripts accumulate in nuclear foci altering the function of alternative splicing regulators which are necessary for the physiological mRNA processing. Missplicing of insulin receptor (IR) gene (INSR) has been associated with insulin resistance, however, it cannot be excluded that post-receptor signalling abnormalities could also contribute to this feature in DM...
2017: PloS One
https://www.readbyqxmd.com/read/28914735/palliative-care-in-neuromuscular-diseases
#2
Marianne de Visser, David J Oliver
PURPOSE OF REVIEW: Palliative care is an approach that improves the quality of life of patients and their families facing the problem associated with life-threatening illness. Neuromuscular disorders (NMDs) are characterized by progressive muscle weakness, leading to pronounced and incapacitating physical disabilities. Most NMDs are not amenable to curative treatment and would thus qualify for palliative care. Amyotrophic lateral sclerosis is a relentlessly progressive disease, which leads to death about 2 years after onset due to respiratory muscle weakness...
September 13, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28910618/ran-translation-regulated-by-muscleblind-proteins-in-myotonic-dystrophy-type-2
#3
Tao Zu, John D Cleary, Yuanjing Liu, Monica Bañez-Coronel, Jodi L Bubenik, Fatma Ayhan, Tetsuo Ashizawa, Guangbin Xia, H Brent Clark, Anthony T Yachnis, Maurice S Swanson, Laura P W Ranum
Several microsatellite-expansion diseases are characterized by the accumulation of RNA foci and RAN proteins, raising the possibility of a mechanistic connection. We explored this question using myotonic dystrophy type 2, a multisystemic disease thought to be primarily caused by RNA gain-of-function effects. We demonstrate that the DM2 CCTG⋅CAGG expansion expresses sense and antisense tetrapeptide poly-(LPAC) and poly-(QAGR) RAN proteins, respectively. In DM2 autopsy brains, LPAC is found in neurons, astrocytes, and glia in gray matter, and antisense QAGR proteins accumulate within white matter...
September 13, 2017: Neuron
https://www.readbyqxmd.com/read/28892766/the-cognitive-profile-of-myotonic-dystrophy-type-1-%C3%A2-a-systematic-review-and-meta-analysis
#4
REVIEW
Kees Okkersen, Melanie Buskes, Johannes Groenewoud, Roy P C Kessels, Hans Knoop, Baziel van Engelen, Joost Raaphorst
OBJECTIVE: To examine the cognitive profile of patients with myotonic dystrophy type 1 (DM1) on the basis of a systematic review and meta-analysis of the literature. METHODS: Embase, Medline and PsycInfo were searched for studies reporting ≥1 neuropsychological test in both DM1 patients and healthy controls. Search, data extraction and risk of bias analysis were independently performed by two authors to minimize error. Neuropsychological tests were categorized into 12 cognitive domains and effect sizes (Hedges' g) were calculated for each domain and for tests administered in ≥5 studies...
August 16, 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/28890289/the-myotonic-dystrophy-health-index-italian-validation-of-a-disease-specific-outcome-measure
#5
Valeria A Sansone, Andrea Lizio, Lucia Greco, Gaia Gragnano, Alice Zanolini, Marco Gualandris, Marino Iatomasi, Chad Heatwole
The Myotonic Dystrophy Health Index (MDHI) is a disease-specific, self-reported outcome measure that assesses total disease burden and 17 areas of Myotonic Dystrophy type 1 (DM1) specific health. This study translated the MDHI into Italian and validated the instrument using a cohort of Italian DM1 patients. Italian DM1 patients were interviewed regarding the form and content of the instrument. Thirty-eight DM1 patients were subsequently recruited to test the reliability and concurrent validity of the instrument by serially completing the MDHI and a battery of clinical tests...
July 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28886202/fuchs-endothelial-corneal-dystrophy-and-rna-foci-in-patients-with-myotonic-dystrophy
#6
V Vinod Mootha, Brock Hansen, Ziye Rong, Pradeep P Mammen, Zhengyang Zhou, Chao Xing, Xin Gong
Purpose: The most common cause of Fuchs' endothelial corneal dystrophy (FECD) is an intronic CTG repeat expansion in TCF4. Expanded CUG repeat RNA colocalize with splicing factor, muscleblind-like 1 (MBNL1), in nuclear foci in endothelium as a molecular hallmark. Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in the 3'-untranslated region (UTR) of DMPK. In this study, we examine for RNA-MBNL1 foci in endothelial cells of FECD subjects with DM1, test the hypothesis that DM1 patients are at risk for FECD, and determine prevalence of TCF4 and DMPK expansions in a FECD cohort...
September 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28881011/sarcolemmal-excitability-in-the-myotonic-dystrophies
#7
Robert Boland-Freitas, James Lee, James Howells, Christina Liang, Alastair Corbett, Garth Nicholson, Karl Ng
INTRODUCTION: Chloride conductance disturbances contribute to sarcolemmal dysfunction in type 1 (DM1) and 2 (DM2) myotonic dystrophy. Studies using muscle velocity recovery cycles (MVRCs) suggest Na(+) /K(+) -ATPase activation becomes defective in advanced DM1. We used MVRCs to investigate muscle excitability in DM1 and DM2. METHODS: MVRCs were measured for patients with mild (n = 8) and advanced DM1 (n = 11), DM2 (n = 4) and normal controls (n = 30). RESULTS: Residual supernormality after multiple conditioning stimuli was increased in DM2 and advanced DM1...
September 7, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28879884/global-muscular-dystrophy-research-a-25-year-bibliometric-perspective
#8
REVIEW
Shri Ram
Muscular dystrophy is a genetic disorder leading to progressive weakness of muscles caused due to dysfunction in or lack of protein in muscle cells. The prevalence of muscular dystrophy has been observed globally and is becoming a critical area of study for better health services. The purpose of the study is to analyze the research strength of muscular dystrophy using bibliographic literature. A quantitative literature analysis was carried out on muscular dystrophy from 1991 to 2015 for assessing the global research trends...
September 2017: Neurology India
https://www.readbyqxmd.com/read/28877480/a-defective-mrna-cleavage-and-polyadenylation-complex-facilitates-expansions-of-transcribed-gaa-n-repeats-associated-with-friedreich-s-ataxia
#9
Ryan J McGinty, Franco Puleo, Anna Y Aksenova, Julia A Hisey, Alexander A Shishkin, Erika L Pearson, Eric T Wang, David E Housman, Claire Moore, Sergei M Mirkin
Expansions of microsatellite repeats are responsible for numerous hereditary diseases in humans, including myotonic dystrophy and Friedreich's ataxia. Whereas the length of an expandable repeat is the main factor determining disease inheritance, recent data point to genomic trans modifiers that can impact the likelihood of expansions and disease progression. Detection of these modifiers may lead to understanding and treating repeat expansion diseases. Here, we describe a method for the rapid, genome-wide identification of trans modifiers for repeat expansion in a yeast experimental system...
September 5, 2017: Cell Reports
https://www.readbyqxmd.com/read/28874395/celf1-mediates-connexin-43-mrna-degradation-in-dilated-cardiomyopathy
#10
Kuei-Ting Chang, Ching-Feng Cheng, Pei-Chih King, Shin-Yi Liu, Guey-Shin Wang
Rationale: Downregulation of connexin 43 (Cx43), the major cardiac gap junction protein, is often associated with arrhythmia, dilated cardiomyopathy (DCM) and heart failure. However, the cause of the reduced expression remains elusive. Re-induction of a nuclear RNA-binding protein CUGBP, Elav-like family member 1 (CELF1) in the adult heart has been implicated in the cardiac pathogenesis of myotonic dystrophy type 1 (DM1). However, how elevated CELF1 level leads to cardiac dysfunction, such as conduction defect, DCM and heart failure, remains unclear...
September 5, 2017: Circulation Research
https://www.readbyqxmd.com/read/28855409/high-frequency-of-gastrointestinal-manifestations-in-myotonic-dystrophy-type-1-and-type-2
#11
James E Hilbert, Richard J Barohn, Paula R Clemens, Elizabeth A Luebbe, William B Martens, Michael P McDermott, Amy L Parkhill, Rabi Tawil, Charles A Thornton, Richard T Moxley
OBJECTIVE: To analyze gastrointestinal (GI) manifestations, their progression over time, and medications being used to treat GI symptoms in a large cohort of patients with myotonic dystrophy types 1 (DM1) and 2 (DM2). METHODS: We analyzed patient-reported data and medical records in a national registry cohort at baseline and 5 years. RESULTS: At baseline, the majority of patients reported trouble swallowing in DM1 (55%; n = 499 of 913) and constipation in DM2 (53%; n = 96 of 180)...
August 30, 2017: Neurology
https://www.readbyqxmd.com/read/28853853/bna-nc-gapmers-revert-splicing-and-reduce-rna-foci-with-low-toxicity-in-myotonic-dystrophy-cells
#12
Kassie S Manning, Ashish N Rao, Miguel Castro, Thomas A Cooper
Myotonic dystrophy type 1 (DM1) is a multisystemic disease caused by an expanded CTG repeat in the 3' UTR of the dystrophia myotonica protein kinase (DMPK) gene. Short, DNA-based antisense oligonucleotides termed gapmers are a promising strategy to degrade toxic CUG expanded repeat (CUGexp) RNA. Nucleoside analogs are incorporated to increase gapmer affinity and stability; however, some analogs also exhibit toxicity. In this study, we demonstrate that the 2',4'-BNA(NC)[NMe] (BNA(NC)) modification is a promising nucleoside analog with high potency similar to 2',4'-LNA (LNA)...
September 5, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28844760/template-operated-mup-analysis-is-not-accurate-in-the-diagnosis-of-myopathic-or-neuropathic-changes-in-the-diaphragm
#13
Lea Leonardis, Simon Podnar
OBJECTIVES: The aim of this study was to evaluate the quantitative motor unit potential (MUP) analysis in the diagnosis of myopathy and neuropathy of the diaphragm. METHODS: Diaphragm template-operated quantitative EMG were performed in 30 patients with myotonic dystrophy type 1 (DM1), 17 with myotonic dystrophy type 2 (DM2) and 40 with amyotrophic lateral sclerosis (ALS). RESULTS: Low MUP amplitude precluded MUP analysis in 21% of DM1 patients...
August 24, 2017: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/28833464/inhibiting-persistent-inward-sodium-currents-prevents-myotonia
#14
Ahmed A Hawash, Andrew A Voss, Mark M Rich
OBJECTIVE: Patients with myotonia congenita have muscle hyperexcitability due to loss-of-function mutations in the ClC-1 chloride channel in skeletal muscle, which causes involuntary firing of muscle action potentials (myotonia), producing muscle stiffness. The excitatory events that trigger myotonic action potentials in the absence of stabilizing ClC-1 current are not fully understood. Our goal was to identify currents that trigger spontaneous firing of muscle in the setting of reduced ClC-1 current...
August 18, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28833235/abstracts
#15
M McIntyre, M Dixon, E M Pucillo, D DiBella, R Crockett, M Hung, J Bounsanga, R J Butterfield, C Campbell, N E Johnson
INTRODUCTION: Children with congenital myotonic dystrophy (CDM) have communication and motor delays. It's not well studied how communication delays affect performance on functional measures such as four-stair climb (4SC), rise from floor (RFF) and 10-meter run (10MR). METHODS: 49 participants with CDM were recruited in to three age-based cohorts. Motor performance was assessed in the two oldest cohorts using the 4SC, RFF and 10MR. Each participant's Age Equivalent Receptive Communication was calculated using the Vineland Adaptive Behavior Scales-II...
August 22, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28820792/corneal-endothelial-dystrophy-associated-with-myotonic-dystrophy-a-report-of-2-cases
#16
Julia Furtado Heringer, Ruth Miyuki Santo, Leonardo José Barbosa, Amaryllis Avakian, Pedro Carlos Carricondo
No abstract text is available yet for this article.
October 2017: Cornea
https://www.readbyqxmd.com/read/28810563/dystrophia-myotonica-type-1-presenting-with-dysarthria-a-case-report-and-literature-review
#17
Chunrong Li, Xiaoling Zhang, Chunkui Zhou, Lijun Zhu, Kangding Liu, Shaokuan Fang
Dystrophia myotonica (DM) type 1 is an autosomal dominant disorder, caused by a trinucleotide CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene (chromosome 19q13.3). The disorder affects different organ systems, including the skeletal muscles, ocular lens, lungs, heart and gastrointestinal tract, as well as the endocrine and central nervous systems. The skeletal muscles are most frequently involved, whereby the disorder manifests as myotonia, muscle weakness and amyotrophy...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28803727/elimination-of-toxic-microsatellite-repeat-expansion-rna-by-rna-targeting-cas9
#18
Ranjan Batra, David A Nelles, Elaine Pirie, Steven M Blue, Ryan J Marina, Harrison Wang, Isaac A Chaim, James D Thomas, Nigel Zhang, Vu Nguyen, Stefan Aigner, Sebastian Markmiller, Guangbin Xia, Kevin D Corbett, Maurice S Swanson, Gene W Yeo
Microsatellite repeat expansions in DNA produce pathogenic RNA species that cause dominantly inherited diseases such as myotonic dystrophy type 1 and 2 (DM1/2), Huntington's disease, and C9orf72-linked amyotrophic lateral sclerosis (C9-ALS). Means to target these repetitive RNAs are required for diagnostic and therapeutic purposes. Here, we describe the development of a programmable CRISPR system capable of specifically visualizing and eliminating these toxic RNAs. We observe specific targeting and efficient elimination of microsatellite repeat expansion RNAs both when exogenously expressed and in patient cells...
August 24, 2017: Cell
https://www.readbyqxmd.com/read/28799481/evolving-motivations-patients-and-caregivers-perceptions-about-seeking-myotonic-dystrophy-dm1-and-huntington-s-disease-care
#19
Kori A LaDonna, Christopher J Watling, Susan L Ray, Christine Piechowicz, Shannon L Venance
Patient-centered care provision is challenging under ideal circumstances; myotonic dystrophy (DM1) and Huntington's disease (HD) are examples of chronic, progressive health conditions that may challenge its limits. If we can understand how care unfolds in these conditions, health care providers may be better equipped to address patients' needs. Constructivist grounded theory informed data collection and analysis. Fourteen patients with DM1 or HD, and 10 caregivers participated in semistructured interviews. Constant comparative analysis was used to identify themes...
September 2017: Qualitative Health Research
https://www.readbyqxmd.com/read/28791262/clinical-characteristics-of-pregnancies-complicated-by-congenital-myotonic-dystrophy
#20
Cheonga Yee, Suk-Joo Choi, Soo-Young Oh, Chang-Seok Ki, Cheong-Rae Roh, Jong-Hwa Kim
OBJECTIVE: Although the conventional prevalence of myotonic dystrophy is 1:8,000, the prevalence in Korean population was recently reported as 1:1,245. With higher domestic result than expected, we aimed to investigate the clinical characteristics of pregnancies complicated by congenital myotonic dystrophy in our institution. METHODS: We have reviewed 11 paired cases of neonates diagnosed with congenital myotonic dystrophy and their mothers between July 2004 and May 2014, with clinical features including maternal history of infertility, prenatal ultrasonographic findings, and neonatal outcomes...
July 2017: Obstetrics & Gynecology Science
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