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https://www.readbyqxmd.com/read/28330959/predominantly-myalgic-phenotype-caused-by-the-c-3466g-a-p-a1156t-mutation-in-scn4a-gene
#1
Johanna Palmio, Satu Sandell, Michael G Hanna, Roope Männikkö, Sini Penttilä, Bjarne Udd
OBJECTIVE: To characterize the clinical phenotype in patients with p.A1156T sodium channel mutation. METHODS: Twenty-nine Finnish patients identified with the c.3466G>A p.A1156T mutation in the SCN4A gene were extensively examined. In a subsequent study, 63 patients with similar myalgic phenotype and with negative results in myotonic dystrophy type 2 genetic screening (DM2-neg group) and 93 patients diagnosed with fibromyalgia were screened for the mutation. Functional consequences of the p...
March 22, 2017: Neurology
https://www.readbyqxmd.com/read/28329537/multiple-pilomatricomas-in-the-setting-of-myotonic-dystrophy
#2
Joyce H Park, Vitaly Terushkin, Nooshin Brinster, Marie Leger, Nicholas A Soter
The association between multiple pilomatricomasand the autosomal dominant neurodegenerativedisorder myotonic dystrophy has been described inthe literature. Although the mechanism is unknown,it is hypothesized that the dystrophia myotonicaprotein kinase mutation in myotonic dystrophyaffects intracellular calcium levels, which alterproliferation and terminal differentiation that leads tocells that are observed in pilomatricomas. We presenta patient with multiple, symptomatic pilomatricomasand myotonic dystrophy, with a strong family historyof both of these rare disorders...
December 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28323905/elevated-plasma-levels-of-cardiac-troponin-i-predict-left-ventricular-systolic-dysfunction-in-patients-with-myotonic-dystrophy-type-1-a-multicentre-cohort-follow-up-study
#3
Mark J Hamilton, Yvonne Robb, Sarah Cumming, Helen Gregory, Alexis Duncan, Monika Rahman, Anne McKeown, Catherine McWilliam, John Dean, Alison Wilcox, Maria E Farrugia, Anneli Cooper, Josephine McGhie, Berit Adam, Richard Petty, Cheryl Longman, Iain Findlay, Alan Japp, Darren G Monckton, Martin A Denvir
OBJECTIVE: High sensitivity plasma cardiac troponin-I (cTnI) is emerging as a strong predictor of cardiac events in a variety of settings. We have explored its utility in patients with myotonic dystrophy type 1 (DM1). METHODS: 117 patients with DM1 were recruited from routine outpatient clinics across three health boards. A single measurement of cTnI was made using the ARCHITECT STAT Troponin I assay. Demographic, ECG, echocardiographic and other clinical data were obtained from electronic medical records...
2017: PloS One
https://www.readbyqxmd.com/read/28321519/cardiac-autonomic-function-in-type-1-and-type-2-myotonic-dystrophy
#4
Piotr Bienias, Anna Łusakowska, Michał Ciurzyński, Zuzanna Rymarczyk, Katarzyna Irzyk, Michał Konwerski, Kamil Ciąpała, Paweł Kowalski, Anna Kamińska, Piotr Pruszczyk
OBJECTIVE: The aim of this study was to evaluate cardiac autonomic nervous system function using Holter-derived and standard electrocardiographic parameters in patients with myotonic dystrophy (dystrophia myotonica, DM) and no clinically overt heart involvement. METHODS: Eighty-four DM patients without conditions potentially influencing cardiac autonomic function were enrolled in the study: 44 with DM type 1 and 40 with DM type 2 (mean age 34.9 ± 11.5 and 47...
March 20, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/28320135/further-evidence-for-the-reliability-and-validity-of-the-fatigue-and-daytime-sleepiness-scale
#5
Benjamin Gallais, Cynthia Gagnon, Geneviève Forgues, Isabelle Côté, Luc Laberge
BACKGROUND: Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disease causing, among other symptoms, fatigue and excessive daytime sleepiness, which are frequently undifferentiated by patients and/or clinicians. The Fatigue and Daytime Sleepiness Scale (FDSS) has been devised to measure these two overlapping symptoms as a single clinical entity. OBJECTIVE: To further examine the reliability and the construct validity of the FDSS in patients with DM1...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28317292/pigmentation-phenotype-photosensitivity-and-skin-neoplasms-in-patients-with-myotonic-dystrophy
#6
S M Gadalla, J E Hilbert, W B Martens, S Givens, R T Moxley, M H Greene
BACKGROUND AND PURPOSE: Recent studies have suggested a possible excess risk of skin neoplasms in patients with myotonic dystrophy (DM). Risk factors related to this observation have not been defined. METHOD: Information regarding personal history of skin tumors, pigmentation phenotype, and skin reaction to sun exposure were collected from 266 DM patients who were enrolled in the US National Institutes of Health National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members...
March 20, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28316843/anesthetic-considerations-in-a-patient-with-myotonic-dystrophy-for-hip-labral-repair
#7
Ramon Go, David Wang, Danielle Ludwin
Myotonic Dystrophy (DM) affects multiple organ systems. Disorders such as hyperthyroidism, progressive musculoskeletal weakness, cardiac dysrhythmias, hypoventilation, and cognitive-behavioral disorders may be present in these patients. Thorough preoperative assessment and anesthetic planning are required to minimize the risk of anesthetic complications. Patients with DM can exhibit exquisite sensitivity to sedatives, neuromuscular blocking agents, and volatile anesthetics, resulting in potential postoperative complications...
2017: Case Reports in Anesthesiology
https://www.readbyqxmd.com/read/28288466/quantitative-assessment-of-trunk-muscles-involvement-in-patients-with-myotonic-dystrophy-type-1-using-a-whole-body-muscle-magnetic-resonance-imaging
#8
Donghwi Park, Jin-Sung Park
OBJECTIVE: The aim of this study was to analyze the pattern of trunk muscles involvement through a muscle MRI, in relation to the clinical data of patients diagnosed with myotonic dystrophy type 1 (DM1). MATERIALS AND METHODS: Patients with DM1 who visited the neurology department were enrolled (n = 19). In all patients, the fatty degeneration of the muscle MRI in the lower cervical, upper thoracic, middle thoracic, and lumbosacral spine extensor muscle group and trunk flexor muscle group was evaluated...
March 14, 2017: European Neurology
https://www.readbyqxmd.com/read/28287465/serine-threonine-kinase-3-phosphoinositide-dependent-protein-kinase-1-pdk1-as-a-key-regulator-of-cell-migration-and-cancer-dissemination
#9
REVIEW
Laura Di Blasio, Paolo A Gagliardi, Alberto Puliafito, Luca Primo
Dissecting the cellular signaling that governs the motility of eukaryotic cells is one of the fundamental tasks of modern cell biology, not only because of the large number of physiological processes in which cell migration is crucial, but even more so because of the pathological ones, in particular tumor invasion and metastasis. Cell migration requires the coordination of at least four major processes: polarization of intracellular signaling, regulation of the actin cytoskeleton and membrane extension, focal adhesion and integrin signaling and contractile forces generation and rear retraction...
March 11, 2017: Cancers
https://www.readbyqxmd.com/read/28265148/the-effects-of-functional-electrical-stimulation-on-muscle-tone-and-stiffness-of-stroke-patients
#10
Sang-Hyun Moon, Jung-Hyun Choi, Si-Eun Park
[Purpose] The purpose of this study was to determine the effects of functional electrical stimulation on muscle tone and stiffness in stroke patients. [Subjects and Methods] Ten patients who had suffered from stroke were recruited. The intervention was functional electrical stimulation on ankle dorsiflexor muscle (tibialis anterior). The duration of functional electrical stimulation was 30 minutes, 5 times a week for 6 weeks. The Myoton was used a measure the muscle tone and stiffness of the gastrocnemius muscle (medial and lateral part) on paretic side...
February 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28257691/cpg-methylation-a-parent-of-origin-effect-for-maternal-biased-transmission-of-congenital-myotonic-dystrophy
#11
Lise Barbé, Stella Lanni, Arturo López-Castel, Silvie Franck, Claudia Spits, Kathelijn Keymolen, Sara Seneca, Stephanie Tomé, Ioana Miron, Julie Letourneau, Minggao Liang, Sanaa Choufani, Rosanna Weksberg, Michael D Wilson, Zdenek Sedlacek, Cynthia Gagnon, Zuzana Musova, David Chitayat, Patrick Shannon, Jean Mathieu, Karen Sermon, Christopher E Pearson
CTG repeat expansions in DMPK cause myotonic dystrophy (DM1) with a continuum of severity and ages of onset. Congenital DM1 (CDM1), the most severe form, presents distinct clinical features, large expansions, and almost exclusive maternal transmission. The correlation between CDM1 and expansion size is not absolute, suggesting contributions of other factors. We determined CpG methylation flanking the CTG repeat in 79 blood samples from 20 CDM1-affected individuals; 21, 27, and 11 individuals with DM1 but not CDM1 (henceforth non-CDM1) with maternal, paternal, and unknown inheritance; and collections of maternally and paternally derived chorionic villus samples (7 CVSs) and human embryonic stem cells (4 hESCs)...
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28249295/cutaneous-neoplasms-in-myotonic-dystrophy-type-1
#12
Joaquim Marcoval, Montserrat Olivé, Montserrat Bonfill-Ortí, Laura Martínez-Molina, Ana Talavera-Belmonte
BACKGROUND: The most frequent skin features associated with myotonic dystrophy type 1 (DM1) are frontal alopecia and pilomatrixomas. Several reports suggest that the incidence of basal cell carcinoma is increased in DM1. However, two recently published studies examining this topic have contradictory results. OBJECTIVE: To retrospectively study the incidence of cutaneous tumours in patients with DM1. METHODS: The clinical features of 102 Caucasian patients diagnosed with DM1 at Bellvitge Hospital in Barcelona, Spain, were retrospectively analysed...
March 2, 2017: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/28225046/erratum-validation-of-plasma-micrornas-as-biomarkers-for-myotonic-dystrophy-type-1
#13
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
No abstract text is available yet for this article.
February 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28221333/idiopathic-bilateral-profound-hypotony-in-an-unknown-progressive-neurodegenerative-disorder
#14
Lorraine M Provencher, Pamela C Carter, Wallace L M Alward
PURPOSE: To present a unique case of idiopathic bilateral hypotony in a patient with progressive, undiagnosed neurological decline, possibly due to mitochondrial disease, and to explore mechanisms of disease and potential treatment options. METHODS: This is a case report. PATIENT: A 17-year-old boy with a history of chronic progressive bilateral vision loss and hypotony in the setting of progressive gait abnormalities, lower extremity spasticity, nystagmus, and urinary retention starting around age 8...
February 17, 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28221312/what-s-in-the-literature
#15
David Lacomis, Nicholas J Silvestri, Edward J Fine, Gil I Wolfe
In this edition of this column, we review new studies concerning the pathophysiology, treatment, and outcomes of patients with necrotizing myopathy, genetic testing in congenital myopathies, and limb girdle muscular dystrophies, and the incidence of polyneuropathy in the myotonic dystrophies. Various studies in myasthenia gravis, including those concerning antibody testing, clinical features, and quality of life are also reviewed as are recent findings in congenital myasthenic syndromes. Finally, 2 studies concerning polyneuropathy are discussed, including one on the association of polyneuropathy in patients with the metabolic syndrome and one on laboratory testing in patients with otherwise idiopathic small fiber polyneuropathy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28213156/myotonic-dystrophy-disease-repeat-range-penetrance-age-of-onset-and-relationship-between-repeat-size-and-phenotypes
#16
REVIEW
Kevin Yum, Eric T Wang, Auinash Kalsotra
Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease primarily characterized by myotonia and progressive muscle weakness. The pathogenesis of DM involves microsatellite expansions in noncoding regions of transcripts that result in toxic RNA gain-of-function. Each successive generation of DM families carries larger repeat expansions, leading to an earlier age of onset with increasing disease severity. At present, diagnosis of DM is challenging and requires special genetic testing to account for somatic mosaicism and meiotic instability...
February 14, 2017: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/28211918/myotonic-dystrophy-type-1-patient-derived-ipscs-for-the-investigation-of-ctg-repeat-instability
#17
Junko Ueki, Masayuki Nakamori, Masahiro Nakamura, Misato Nishikawa, Yoshinori Yoshida, Azusa Tanaka, Asuka Morizane, Masayoshi Kamon, Toshiyuki Araki, Masanori P Takahashi, Akira Watanabe, Nobuya Inagaki, Hidetoshi Sakurai
Myotonic dystrophy type 1 (DM1) is an autosomal-dominant multi-system disease caused by expanded CTG repeats in dystrophia myotonica protein kinase (DMPK). The expanded CTG repeats are unstable and can increase the length of the gene with age, which worsens the symptoms. In order to establish a human stem cell system suitable for the investigation of repeat instability, DM1 patient-derived iPSCs were generated and differentiated into three cell types commonly affected in DM1, namely cardiomyocytes, neurons and myocytes...
February 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28209438/excessive-daytime-sleepiness-in-a-patient-with-coexisting-myotonic-dystrophy-type-1-myasthenia-gravis-and-graves-disease
#18
Katarzyna Kapica-Topczewska, Robert Pogorzelski, Joanna Tarasiuk, Wiesław Drozdowski, Piotr Lewczuk, Alina Kułakowska
A 41-year-old female with history of Graves' disease, bilateral cataract, paroxysmal atrial fibrillation was admitted because of muscle weakness, daytime sleepiness, fatigability, drowsiness, bilateral eyelid ptosis, descending of head and lower jaw. On neurological examination the patient was presented with muscle weakness, muscle atrophy (in face and sternocleidomastoid muscles), features of myotonia and apocamnosis (orbicular muscles). Electromyography revealed myopathic changes, myotonic and pseudomyotonic discharges, positive repetitive nerve stimulation test in proximal muscles...
February 3, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28201546/incidence-and-predictors-of-sudden-death-major-conduction-defects-and-sustained-ventricular-tachyarrhythmias-in-1388-patients-with-myotonic-dystrophy-type-1
#19
Karim Wahbi, Dominique Babuty, Vincent Probst, Ludivine Wissocque, Fabien Labombarda, Raphaël Porcher, Henri Marc Bécane, Arnaud Lazarus, Anthony Béhin, Pascal Laforêt, Tanya Stojkovic, Nicolas Clementy, Aurélie Pattier Dussauge, Jean Baptiste Gourraud, Yann Pereon, Arnaud Lacour, Françoise Chapon, Paul Milliez, Didier Klug, Bruno Eymard, Denis Duboc
No abstract text is available yet for this article.
December 9, 2016: European Heart Journal
https://www.readbyqxmd.com/read/28199958/toward-precision-medicine-in-myotonic-syndromes
#20
EDITORIAL
Michela De Bellis, Diana Conte Camerino, Jean-François Desaphy
No abstract text is available yet for this article.
February 10, 2017: Oncotarget
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