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Myotonic dystrophy

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https://www.readbyqxmd.com/read/29445282/orexin-hypocretin-levels-in-the-cerebrospinal-fluid-and-characteristics-of-patients-with-myotonic-dystrophy-type-1-with-excessive-daytime-sleepiness
#1
Yuki Omori, Takashi Kanbayashi, Aya Imanishi, Ko Tsutsui, Yohei Sagawa, Yuka S Kikuchi, Masahiro Takeshima, Kazuhisa Yoshizawa, Sachiko Uemura, Tetsuo Shimizu
Purpose: Myotonic dystrophy type 1 (DM1) is often characterized by excessive daytime sleepiness (EDS) and sleep-onset rapid eye movement periods caused by muscleblind-like protein 2. The EDS tends to persist even after treatment of sleep apnea. We measured the cerebrospinal fluid (CSF) orexin levels in DM1 patients with EDS and compared the clinical characteristics with narcolepsy type 1 and idiopathic hypersomnia (IHS) patients. Patients and methods: We measured the CSF orexin levels in 17 DM1 patients with EDS and evaluated subjective sleepiness using the Epworth Sleepiness Scale (ESS), objective sleepiness using mean sleep latency (MSL), and sleep apnea using apnea-hypopnea index (AHI)...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29441734/cross-sectional-serum-metabolomic-study-of-multiple-forms-of-muscular-dystrophy
#2
Pietro Spitali, Kristina Hettne, Roula Tsonaka, Ekrem Sabir, Alexandre Seyer, Jesse B A Hemerik, Jelle J Goeman, Esther Picillo, Manuela Ergoli, Luisa Politano, Annemieke Aartsma-Rus
Muscular dystrophies are characterized by a progressive loss of muscle tissue and/or muscle function. While metabolic alterations have been described in patients'-derived muscle biopsies, non-invasive readouts able to describe these alterations are needed in order to objectively monitor muscle condition and response to treatment targeting metabolic abnormalities. We used a metabolomic approach to study metabolites concentration in serum of patients affected by multiple forms of muscular dystrophy such as Duchenne and Becker muscular dystrophies, limb-girdle muscular dystrophies type 2A and 2B, myotonic dystrophy type 1 and facioscapulohumeral muscular dystrophy...
February 14, 2018: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29436800/comprendre-les-personnes-atteintes-de-la-maladie-de-steinert-pour-mieux-les-soigner
#3
Didier Lecordier, Emmanuelle Cartron, Ljiljana Jovic
INTRODUCTION: the lifestyles of people with myotonic dystrophy type 1 (DM1) are poorly understood and yet their consideration is essential for effective long-term care. The nursing care provided in the reference centers integrates the diversity clinic of this disease in interdisciplinary care, but it is more complicated from a relational point of view. The objective of this qualitative study was to understand the ways of living for a person with DM1, his body and the coping strategies developed...
February 2, 2018: Recherche en Soins Infirmiers
https://www.readbyqxmd.com/read/29435927/gene-silencing-in-vitro-and-in-vivo-using-intronic-micrornas
#4
Shi-Lung Lin, Shao-Yao Ying
MicroRNAs (miRNAs), small single-stranded regulatory RNAs capable of interfering with intracellular messenger RNAs (mRNAs) that contain either complete or partial complementarity, are useful for the design of new therapies against cancer polymorphism and viral mutation. Numerous miRNAs have been reported to induce RNA interference (RNAi), a post-transcriptional gene-silencing mechanism. Recent evidence also indicates that they are involved in the transcriptional regulation of genome activities. They were first discovered in Caenorhabditis elegans as native RNA fragments that modulate a wide range of genetic regulatory pathways during embryonic development, and are now recognized as small gene silencers transcribed from the noncoding regions of a genome...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29433794/clinically-variable-nemaline-myopathy-in-a-three-generation-family-caused-by-mutation-of-the-skeletal-muscle-alpha-actin-gene
#5
Vilma-Lotta Lehtokari, Maria Gardberg, Katarina Pelin, Carina Wallgren-Pettersson
We present here a Finnish nemaline myopathy family with a dominant mutation in the skeletal muscle α-actin gene, p.(Glu85Lys), segregating in three generations. The index patient, a 5-year-old boy, had the typical form of nemaline myopathy with congenital muscle weakness and motor milestones delayed but reached, while his mother never had sought medical attention for her very mild muscle weakness, and his maternal grandmother had been misdiagnosed as having myotonic dystrophy. This illustrates the clinical variability in nemaline myopathy...
December 25, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29428949/elevated-global-dna-methylation-is-not-exclusive-to-amyotrophic-lateral-sclerosis-and-is-also-observed-in-spinocerebellar-ataxia-types-1-and-2
#6
Hamid Hamzeiy, Doruk Savaş, Ceren Tunca, Nesli Ece Şen, Aslı Gündoğdu Eken, Irmak Şahbaz, Daniela Calini, Cinzia Tiloca, Nicola Ticozzi, Antonia Ratti, Vincenzo Silani, A Nazlı Başak
Adult-onset neurological disorders are caused and influenced by a multitude of different factors, including epigenetic modifications. Here, using an ELISA kit selected upon careful testing, we investigated global 5-methylcytosine (5-mC) levels in sporadic and familial amyotrophic lateral sclerosis (sALS and fALS), spinocerebellar ataxia types 1 and 2 (SCA1 and SCA2), Huntington's disease, Friedreich's ataxia, and myotonic dystrophy type 1. We report a significant elevation in global 5-mC levels of about 2-7% on average for sALS (p < 0...
February 9, 2018: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29427099/rna-related-pathology-in-huntington-s-disease
#7
Andreas Neueder, Gillian P Bates
This chapter summarises research investigating the expression of huntingtin sense and anti-sense transcripts, the effect of the mutation on huntingtin processing as well as the more global effect of the mutation on the coding and non-coding transcriptomes. The huntingtin gene is ubiquitously expressed, although expression levels vary between tissues and cell types. A SNP that affects NF-ĸB binding in the huntingtin promoter modulates the expression level of huntingtin transcripts and is associated with the age of disease onset...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29420722/craniofacial-morphology-and-growth-in-young-patients-with-congenital-or-childhood-onset-myotonic-dystrophy
#8
Clara Fontinha, Monica Engvall, Lotta Sjögreen, Stavros Kiliaridis
Background/objectives: This study investigated the craniofacial morphology of young individuals with congenital or childhood onset myotonic dystrophy type 1 (DM1) compared to healthy subjects. The study also followed growth changes in their facial morphology over a 5-year period. Materials/methods: Lateral cephalograms of the 26 subjects (young patients with DM1 from west and south Sweden) were taken at baseline and after a 5-year period. These radiographs were compared with normal standards based on healthy individuals from the Michigan Growth Study, according to their age and sex, using paired t-tests (P < 0...
February 6, 2018: European Journal of Orthodontics
https://www.readbyqxmd.com/read/29404559/development-and-validation-of-a-new-scoring-system-to-predict-survival-in-patients-with-myotonic-dystrophy-type-1
#9
Karim Wahbi, Raphaël Porcher, Pascal Laforêt, Abdallah Fayssoil, Henri Marc Bécane, Arnaud Lazarus, Maximilien Sochala, Tanya Stojkovic, Anthony Béhin, Sarah Leonard-Louis, Pauline Arnaud, Denis Furling, Vincent Probst, Dominique Babuty, Sybille Pellieux, Nicolas Clementy, Guillaume Bassez, Yann Péréon, Bruno Eymard, Denis Duboc
Importance: Life expectancy is greatly shortened in patients presenting with myotonic dystrophy type 1 (DM1), the most common neuromuscular disease. A reliable prediction of survival in patients with DM1 is critically important to plan personalized health supervision. Objective: To develop and validate a prognostic score to predict 10-year survival in patients with DM1. Design, Setting, and Participants: In this longitudinal cohort study, between January 2000 and November 2014, we enrolled 1296 adults referred to 4 tertiary neuromuscular centers in France for management of genetically proven DM1, including 1066 patients in the derivation cohort and 230 in the validation cohort...
February 5, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29400682/swallowing-impairments-in-amyotrophic-lateral-sclerosis-and-myotonic-dystrophy-type-1-looking-for-the-portrait-of-dysphagic-patient-in-neuromuscular-diseases
#10
Elisa Andrenelli, Federica Lucia Galli, Rosaria Gesuita, Edlira Skrami, Francesco Ottavio Logullo, Leandro Provinciali, Marianna Capecci, Maria Gabriella Ceravolo, Michela Coccia
BACKGROUND: Dysphagia is a critical symptom of Neuromuscular Diseases and is often associated with considerable morbidity and mortality. OBJECTIVE: This study is designed to investigate the prevalence of dysphagia and to identify different clinical profiles of swallowing disorders in Myotonic Dystrophy type 1 (DM1) and Amyotrophic Lateral Sclerosis (ALS), the most common Neuromuscular Diseases in the adult age. METHODS: Consecutive DM1 and ALS patients from 2013 to 2015 referred to a Centre for Neuromuscular Disease were enrolled...
2018: NeuroRehabilitation
https://www.readbyqxmd.com/read/29398295/genotype-and-other-determinants-of-respiratory-function-in-myotonic-dystrophy-type-1
#11
Ghilas Boussaïd, Karim Wahbi, Pascal Laforet, Bruno Eymard, Tanya Stojkovic, Anthony Behin, Annane Djillali, David Orlikowski, Hélène Prigent, Frédéric Lofaso
New treatments are being developed for myotonic dystrophy type 1 (DM1). To evaluate their efficacy, knowledge about the natural history of respiratory dysfunction and its relationship with the genotype will be crucial. Also needed is information on factors predicting the time-course of respiratory function in DM1. Using data from 283 patients, we built a segmented linear mixed-effects regression model to assess respiratory function changes over time. Respiratory variables associated with the CTG repeat number were identified by multivariate linear regression analysis...
December 26, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29394960/increased-eeg-theta-spectral-power-in-sleep-in-myotonic-dystrophy-type-1
#12
Joseph Cheung, Chad Ruoff, Hyatt Moore, Katharine A Hagerman, Jennifer Perez, Sarada Sakamuri, Simon C Warby, Emmanuel Mignot, John Day, Jacinda Sampson
STUDY OBJECTIVES: Myotonic dystrophy type 1 (DM1) is a multisystemic disorder that involves the central nervous system (CNS). Individuals with DM1 commonly present with sleep dysregulation, including excessive daytime sleepiness and sleep-disordered breathing. We aim to characterize electroencephalogram (EEG) power spectra from nocturnal polysomnography (PSG) in patients with DM1 compared to matched controls to better understand the potential CNS sleep dysfunction in DM1. METHODS: A retrospective, case-control (1:2) chart review of patients with DM1 (n = 18) and matched controls (n = 36) referred for clinical PSG at the Stanford Sleep Center was performed...
January 30, 2018: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/29383602/recurrence-of-gastric-masses-in-a-neonate-with-congenital-myotonic-dystrophy
#13
Pooja Shivananda Siddhi, Imogen Storey
No abstract text is available yet for this article.
January 31, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29382705/discovery-of-potent-and-selective-mrck-inhibitors-with-therapeutic-effect-on-skin-cancer
#14
Mathieu Unbekandt, Simone Belshaw, Justin Bower, Maeve Clarke, Jacqueline Cordes, Diane Crighton, Daniel R Croft, Martin J Drysdale, Mathew J Garnett, Kathryn Gill, Christopher Gray, David A Greenhalgh, James Am Hall, Jennifer Konczal, Sergio Lilla, Duncan McArthur, Patricia McConnell, Laura McDonald, Lynn McGarry, Heather McKinnon, Carol McMenemy, Mokdad Mezna, Nicholas A Morrice, June Munro, Gregory Naylor, Nicola Rath, Alexander W Schüttelkopf, Mairi Sime, Michael F Olson
The myotonic dystrophy-related Cdc42-binding kinases MRCKα and MRCKβ contribute to the regulation of actin-myosin cytoskeleton organization and dynamics, acting in concert with the Rho-associated coiled-coil kinases ROCK1 and ROCK2. The absence of highly potent and selective MRCK inhibitors has resulted in relatively little knowledge of the potential roles of these kinases in cancer. Here we report the discovery of the azaindole compounds BDP8900 and BDP9066 as potent and selective MRCK inhibitors that reduce substrate phosphorylation, leading to morphological changes in cancer cells along with inhibition of their motility and invasive character...
January 30, 2018: Cancer Research
https://www.readbyqxmd.com/read/29381813/clinical-neuropsychology-in-the-management-of-myotonic-dystrophy
#15
EDITORIAL
Christopher D Graham, Steven Kemp, Ratko Radakovic, Narinder Kapur
No abstract text is available yet for this article.
January 30, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29381654/macroscopic-and-microscopic-diversity-of-missplicing-in-the-central-nervous-system-of-patients-with-myotonic-dystrophy-type-1
#16
Mitsuru Furuta, Takashi Kimura, Masayuki Nakamori, Tsuyoshi Matsumura, Harutoshi Fujimura, Kenji Jinnai, Masanori P Takahashi, Hideki Mochizuki, Hiroo Yoshikawa
Myotonic dystrophy type I (DM1) is a multiorgan disease caused by CTG-repeat expansion in the DMPK gene. Sequestration of the splicing factor MBNL1 results in aberrant splicing in many genes in DM1 skeletal muscle, whereas MBNL2 plays a leading role in missplicing in the central nervous system (CNS) of patients with DM1. Splicing misregulation of most MBNL2-regulated genes occurs in the temporal cortex but not in the cerebellum of autopsied patients with DM1. To understand the diversity at macroscopic and microscopic levels in CNS of patients with DM1...
February 7, 2018: Neuroreport
https://www.readbyqxmd.com/read/29369170/five-year-serial-follow-up-of-muscle-mri-in-adult-onset-myotonic-dystrophy-type-1-a-case-report
#17
Jin-Sung Park, Donghwi Park
RATIONALE: Although several studies have described the involvement pattern of myotonic dystrophy type 1 (DM1) using muscle MRI, most of these studies have limitations as cross-sectional studies. To the best of our knowledge, there have been no reports of longitudinal studies describing muscle involvement patterns in patients with DM1 via serial MRI. PATIENT CONCERNS: Progressive weakness of both lower extremities. DIAGNOSIS: Two patients with DM1...
January 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29367875/myotonic-dystrophy-type-1-with-diabetes-mellitus-mixed-hypogonadism-and-adrenal-insufficiency
#18
Ken Takeshima, Hiroyuki Ariyasu, Tatsuya Ishibashi, Shintaro Kawai, Shinsuke Uraki, Jinsoo Koh, Hidefumi Ito, Takashi Akamizu
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disease affecting muscles, the eyes and the endocrine organs. Diabetes mellitus and primary hypogonadism are endocrine manifestations typically seen in patients with DM1. Abnormalities of hypothalamic-pituitary-adrenal (HPA) axis have also been reported in some DM1 patients. We present a case of DM1 with a rare combination of multiple endocrinopathies; diabetes mellitus, a combined form of primary and secondary hypogonadism, and dysfunction of the HPA axis...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29361396/childhood-onset-form-of-myotonic-dystrophy-type-1-and-autism-spectrum-disorder-is-there-comorbidity
#19
N Angeard, E Huerta, A Jacquette, D Cohen, J Xavier, M Gargiulo, L Servais, B Eymard, D Héron
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder with neuromuscular symptoms and brain dysfunctions. Depending on the phenotypic expression, the degree of cognitive impairment remains heterogeneous, ranging from moderate to severe intellectual disability in the congenital form, to executive, visuospatial and personality dysfunction in the adult-onset form. Studies exploring the cognitive or psychiatric impairments in the childhood form of DM1, characterized by an age of onset between one and ten years, uneventful pre and post natal history and normal development the first year of life, are scarce and show conflicting results in regard to a comorbid diagnosis of Autism Spectrum Disorder (ASD)...
December 15, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29361394/falls-and-resulting-fractures-in-myotonic-dystrophy-results-from-a-multinational-retrospective-survey
#20
A C Jiménez-Moreno, J Raaphorst, H Babačić, L Wood, B van Engelen, H Lochmüller, B Schoser, S Wenninger
Myotonic Dystrophy type 1 multisystem involvement leads to functional impairment with an increased risk of falling. This multinational study estimates the prevalence of falls and fall-associated fractures. A web-based survey among disease-specific registries (Germany, UK and The Netherlands) was carried out among DM1 ambulant adults with a total of 573 responses retrieved. Results provided a risk ratio estimation of 30%-72% for falls and of 11%-17% for associated fractures. There was no significant difference for falls between male and female, but there was for fall-related fractures with a higher prevalence in women...
December 27, 2017: Neuromuscular Disorders: NMD
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