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https://www.readbyqxmd.com/read/27911744/dysregulation-of-mrna-localization-and-translation-in-genetic-disease
#1
Eric T Wang, J Matthew Taliaferro, Ji-Ann Lee, Indulekha P Sudhakaran, Wilfried Rossoll, Christina Gross, Kathryn R Moss, Gary J Bassell
RNA-binding proteins (RBPs) acting at various steps in the post-transcriptional regulation of gene expression play crucial roles in neuronal development and synaptic plasticity. Genetic mutations affecting several RBPs and associated factors lead to diverse neurological symptoms, as characterized by neurodevelopmental and neuropsychiatric disorders, neuromuscular and neurodegenerative diseases, and can often be multisystemic diseases. We will highlight the physiological roles of a few specific proteins in molecular mechanisms of cytoplasmic mRNA regulation, and how these processes are dysregulated in genetic disease...
November 9, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27911338/sleepiness-and-sleep-related-breathing-disorders-in-myotonic-dystrophy-and-responses-to-treatment-a-prospective-cohort-study
#2
Sophie D West, Hanns Lochmüller, Joan Hughes, Antonio Atalaia, Chiara Marini-Bettolo, Simon V Baudouin, Kirstie N Anderson
OBJECTIVE: We conducted prospective assessments in people with myotonic dystrophy type 1 (DM1) with daytime sleepiness, provided targeted therapies and assessed response. METHODS: Patients had overnight sleep assessments. Treatment with continuous positive airway pressure (CPAP) for OSA, non-invasive ventilation (NIV) for respiratory failure, modafinil for excessive daytime sleepiness were commenced. RESULTS: 120 people were studied: mean age 46...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27905532/validation-of-plasma-micrornas-as-biomarkers-for-myotonic-dystrophy-type-1
#3
A Perfetti, S Greco, R Cardani, B Fossati, G Cuomo, R Valaperta, F Ambrogi, A Cortese, A Botta, A Mignarri, M Santoro, C Gaetano, E Costa, M T Dotti, G Silvestri, R Massa, G Meola, F Martelli
Non-invasive and simple to measure biomarkers are still an unmet need for myotonic dystrophy type 1 (DM1). Indeed, muscle biopsies can be extremely informative, but their invasive nature limits their application. Extracellular microRNAs are emerging humoral biomarkers and preliminary studies identified a group of miRNAs that are deregulated in the plasma or serum of small groups of DM1 patients. Here we adopted very stringent selection and normalization criteria to validate or disprove these miRNAs in 103 DM1 patients and 111 matched controls...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27904823/expression-of-gp91phox-and-p22phox-catalytic-subunits-of-nadph-oxidase-on-microglia-in-nasu-hakola-disease-brains
#4
Jun-Ichi Satoh, Yoshihiro Kino, Motoaki Yanaizu, Youhei Tosaki, Kenji Sakai, Tusyoshi Ishida, Yuko Saito
The superoxide-producing nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex of phagocytes (phox) plays a key role in production of reactive oxygen species (ROS) by microglia. The catalytic subunits of the NADPH oxidase are composed of p22phox and gp91phox. Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder caused by a loss-of-function mutation of either TYROBP (DAP12) or TREM2. Pathologically, the brains of NHD patients exhibit extensive demyelination designated leukoencephalopathy, astrogliosis, accumulation of axonal spheroids, and remarkable activation of microglia predominantly in the white matter of frontal and temporal lobes...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27903900/autoregulation-of-mbnl1-function-by-exon-1-exclusion-from-mbnl1-transcript
#5
Patryk Konieczny, Ewa Stepniak-Konieczna, Katarzyna Taylor, Łukasz J Sznajder, Krzysztof Sobczak
Muscleblind-like proteins (MBNLs) are regulators of RNA metabolism. During tissue differentiation the level of MBNLs increases, while their functional insufficiency plays a crucial role in myotonic dystrophy (DM). Deep sequencing of RNA molecules cross-linked to immunoprecipitated protein particles (CLIP-seq) revealed that MBNL1 binds to MBNL1 exon 1 (e1) encoding both the major part of 5'UTR and an amino-terminal region of MBNL1 protein. We tested several hypotheses regarding the possible autoregulatory function of MBNL1 binding to its own transcript...
November 29, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27899419/progressive-cl-channel-defects-reveal-disrupted-skeletal-muscle-maturation-in-r6-2-huntington-s-mice
#6
Daniel R Miranda, Monica Wong, Shannon H Romer, Cynthia McKee, Gabriela Garza-Vasquez, Alyssa C Medina, Volker Bahn, Andrew D Steele, Robert J Talmadge, Andrew A Voss
Huntington's disease (HD) patients suffer from progressive and debilitating motor dysfunction. Previously, we discovered reduced skeletal muscle chloride channel (ClC-1) currents, inwardly rectifying potassium (Kir) channel currents, and membrane capacitance in R6/2 transgenic HD mice. The ClC-1 loss-of-function correlated with increased aberrant mRNA processing and decreased levels of full-length ClC-1 mRNA (Clcn1 gene). Physiologically, the resulting muscle hyperexcitability may help explain involuntary contractions of HD...
November 29, 2016: Journal of General Physiology
https://www.readbyqxmd.com/read/27896491/clusters-of-cognitive-impairment-among-different-phenotypes-of-myotonic-dystrophy-type-1-and-type-2
#7
Stojan Peric, Vidosava Rakocevic Stojanovic, Gorana Mandic Stojmenovic, Vera Ilic, Masa Kovacevic, Aleksandra Parojcic, Jovan Pesovic, Milija Mijajlovic, Dusanka Savic-Pavicevic, Giovanni Meola
Neuropsychological examinations in myotonic dystrophy (DM) patients show a great variability of results from a condition of intellectual disability to the subtle cognitive impairments. It is unclear if different clusters of neuropsychological deficits appear in different phenotypes of DM, or if there are patients with no cognitive deficit at all. The aim of this study is to assess cognitive impairments among patients with different phenotypes of DM type 1 (DM1) and type 2 (DM2), and to potentially define cognitive clusters in these disorders...
November 28, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27879482/unusual-structures-of-cctg-repeats-and-their-participation-in-repeat-expansion
#8
Pei Guo, Sik Lok Lam
CCTG repeat expansion in intron 1 of the cellular nucleic acid-binding protein (CNBP) gene has been identified to be the genetic cause of myotonic dystrophy type 2 (DM2). Yet the underlying reasons for the genetic instability in CCTG repeats remain elusive. In recent years, CCTG repeats have been found to form various types of unusual secondary structures including mini-dumbbell (MDB), hairpin and dumbbell, revealing that there is a high structural diversity in CCTG repeats intrinsically. Upon strand slippage, the formation of unusual structures in the nascent strand during DNA replication has been proposed to be the culprit of CCTG repeat expansions...
November 23, 2016: Biomolecular Concepts
https://www.readbyqxmd.com/read/27876818/identification-and-characterization-of-5-ccg-interruptions-in-complex-dmpk-expanded-alleles
#9
Annalisa Botta, Giulia Rossi, Marzia Marcaurelio, Luana Fontana, Maria Rosaria D'Apice, Francesco Brancati, Roberto Massa, Darren G Monckton, Federica Sangiuolo, Giuseppe Novelli
Myotonic dystrophy type 1 is a multisystemic autosomal dominant disorder caused by the expansion of (CTG) n triplets in the 3'UTR of the DMPK gene, on chromosome 19q13.3. In the last years, few DM1 patients with different patterns of CCG/CTC interruptions at the 3' end of the DMPK expanded tract have been described. However, the role of these interruptions in DM1 pathogenesis is still unclear. To study the frequency, stability and the structure of DMPK variant expanded alleles in the Italian population, we have re-evaluated 254 Italian DM1 patients using triplet-primed PCR (TP-PCR), at both the 3' and 5' ends of the CTG expansion...
November 23, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27862031/a-review-of-patient-reported-outcome-measures-for-use-in-dm1-patients
#10
Tara Symonds, Jason A Randall, Patrick Campbell
INTRODUCTION: The heterogeneity of symptoms experienced by Myotonic Dystrophy type 1 (DM1) patients means patient reported outcome (PRO) assessments are uniquely suited to address this through questionnaires. METHOD: A structured literature review of PRO measures used in DM1 populations, comparing psychometric data from this population was undertaken. RESULTS: One health status measure, 3 activities of daily living scales, 3 health-related quality of life (HRQOL) assessments, and 5 sleep and fatigue measures have validity and reliability information from DM1 populations...
November 11, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27862025/a-review-of-muscle-and-performance-based-assessment-instruments-in-dm1
#11
Tara Symonds, Patrick Campbell, Jason A Randall
INTRODUCTION: Many outcome assessments used in myotonic dystrophy type 1 (DM1) were developed in other populations. Therefore, reliability and validity of these must be established in DM1 populations. METHODS: A structured literature review was conducted to identify muscle strength and performance-based functional outcome assessments used in DM1 and to review the DM1-specific reliability and validity evidence for those outcome assessments. RESULTS: Eighteen articles met inclusion criteria and were included in the review...
November 11, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27859917/current-evidence-for-the-use-of-sugammadex-in-children
#12
REVIEW
Joseph D Tobias
Sugammadex is a novel pharmacologic agent, which reverses neuromuscular blockade with a mechanism that differs from the commonly used, acetylcholinesterase inhibitors. Although sugammadex has not received approval from the United States Food & Drug administration in children, its use has already been reported to reverse neuromuscular blockade in several clinical scenarios in the pediatric population including the 'cannot intubate-cannot ventilate' scenario. To date, there remains limited data from prospective trials in the pediatric-aged patient...
November 17, 2016: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/27859360/physical-function-and-mobility-in-children-with-congenital-myotonic-dystrophy
#13
Evan M Pucillo, Deanna L DiBella, Man Hung, Jerry Bounsanga, Becky Crockett, Melissa Dixon, Russell J Butterfield, Craig Campbell, Nicholas E Johnson
INTRODUCTION: Congenital Myotonic Dystrophy (CDM) occurs when symptoms of myotonic dystrophy present at birth. This study evaluated the relationship between physical function, muscle mass, and age to provide an assessment of the disease and help prepare for therapeutic trials. METHODS: CDM participants performed timed functional tests (TFTs), The first 2 minutes of the 6-minute walk test (2/6MWT), myometry, and dual-energy x-ray absorption (DEXA) scans. Healthy controls (HC) performed TFTs, 6MWT, and myometry...
November 18, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27857801/schwartz-jampel-syndrome-with-gastroduodenal-bleeding
#14
İpek Polat, Pakize Karaoğlu, Uluç Yiş, Semra Hız Kurul
Schwartz-Jampel syndrome is a rare autosomal recessive disorder with joint contractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. The patients with Schwartz-Jampel syndrome have muscle stiffness and electromyography reveals complex, repetitive discharges as myotonic discharges. It is unusual for a Schwartz-Jampel syndrome case to have recurrent gastrointestinal bleeding episodes. The stable endothelial barrier is provided by perlecan which is an important component of vascular structures...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27857755/can-long-term-thiamine-treatment-improve-the-clinical-outcomes-of-myotonic-dystrophy-type-1
#15
Antonio Costantini, Erika Trevi, Maria Immacolata Pala, Roberto Fancellu
Myotonic dystrophy type 1, also known as Steinert's disease, is an autosomal dominant disorder with multisystemic clinical features affecting the skeletal and cardiac muscles, the eyes, and the endocrine system. Thiamine (vitamin B1) is a cofactor of fundamental enzymes involved in the energetic cell metabolism; recent studies described its role in oxidative stress, protein processing, peroxisomal function, and gene expression. Thiamine deficiency is critical mainly in the central and peripheral nervous system, as well as in the muscular cells...
September 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/27854230/developmental-milestones-and-quality-of-life-assessment-in-a-congenital-myotonic-dystrophy-cohort
#16
Madhavi Prasad, Rhiannon Hicks, Melissa MacKay, Cam-Tu Nguyen, Craig Campbell
BACKGROUND: Congenital myotonic dystrophy (CDM) is a neuromuscular disorder caused by a CTG triplet repeat expansion in the DMPK gene. In addition to the expected motor delay, affected children often have significant developmental disability in language and cognitive realms, which ultimately impacts on quality of life. OBJECTIVE: In a prospective cohort of children with CDM to 1) present the profile of language and motor developmental milestones, and 2) describe their early childhood health related quality of life (HRQOL)...
August 30, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27854227/do-psychosocial-interventions-improve-quality-of-life-and-wellbeing-in-adults-with-neuromuscular-disorders-a-systematic-review-and-narrative-synthesis
#17
Elaine Walklet, Kate Muse, Jane Meyrick, Tim Moss
Quality of life and well-being are frequently restricted in adults with neuromuscular disorders. As such, identification of appropriate interventions is imperative. The objective of this paper was to systematically review and critically appraise quantitative studies (RCTs, controlled trials and cohort studies) of psychosocial interventions designed to improve quality of life and well-being in adults with neuromuscular disorders. A systematic review of the published and unpublished literature was conducted. Studies meeting inclusion criteria were appraised using a validated quality assessment tool and results presented in a narrative synthesis...
August 30, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27854224/can-human-pluripotent-stem-cell-derived-cardiomyocytes-advance-understanding-of-muscular-dystrophies
#18
Spandan Kalra, Federica Montanaro, Chris Denning
Muscular dystrophies (MDs) are clinically and molecularly a highly heterogeneous group of single-gene disorders that primarily affect striated muscles. Cardiac disease is present in several MDs where it is an important contributor to morbidity and mortality. Careful monitoring of cardiac issues is necessary but current management of cardiac involvement does not effectively protect from disease progression and cardiac failure. There is a critical need to gain new knowledge on the diverse molecular underpinnings of cardiac disease in MDs in order to guide cardiac treatment development and assist in reaching a clearer consensus on cardiac disease management in the clinic...
August 30, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27837184/mri-findings-and-cognitive-functions-in-a-small-cohort-of-myotonic-dystrophy-type-1-retrospective-analyses
#19
Arsida Bajrami, Filiz Azman, Vildan Yayla, Sultan Cagirici, Cahit Keskinkiliç, Nejla Sozer
Myotonic dystrophy type 1 (DM1) is a progressive multisystemic disease with common cognitive deficits and potential brain involvement in addition to the cardinal muscular and systemic symptoms. Impaired mental function associated with nonspecific pathological findings such as white-matter hyperintense lesions (WMHLs), ventricular enlargement and brain atrophy on brain MRI have been previously reported in DM1 patients. While some studies showed correlation of brain morphological changes with neuropsychological and clinical parameters including CTG repeat sizes and disease severity scales in DM1, others failed...
November 11, 2016: Neuroradiology Journal
https://www.readbyqxmd.com/read/27830345/subperiosteal-new-bone-and-callus-formations-in-neonates-with-femoral-shaft-fracture-at-birth
#20
Takahiro Hosokawa, Yoshitake Yamada, Yumiko Sato, Yutaka Tanami, Eiji Oguma
To compare the timing of subperiosteal new bone formation (SPNBF) and callus formation in femoral shaft fractures that occurred at birth between neonates with and without an underlying disease, we retrospectively evaluated the radiographs of 12 neonates with femoral fractures on birth day. Seven had no underlying disease, 3 had osteogenesis imperfecta, 1 had myotonic dystrophy, and 1 had arthrogryposis. We evaluated the timing of initial SPNBF/soft callus/hard callus formation. In neonates without an underlying disease, SPNBF and callus formation were not detected by day 6 on radiographs; SPNBF/soft callus/hard callus formation was first observed at day 14...
November 9, 2016: Emergency Radiology
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