Results 41 to 50 of about 31,854 (258)

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 [PDF]

, 2017
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).
A Hammerer-Lercher, Alan Japp, Alexis Duncan, Alison Wilcox, Anne McKeown, Anneli Cooper, AS Jaffe, AS Shah, AS Shah, AS Shah, B Udd, Berit Adam, C Gagnon, C Turner, Catherine McWilliam, CE Jackson, Cheryl Longman, CR deFilippi, D Bhakta, D Bhakta, Darren G. Monckton, DG Monckton, EM Hoogerwaard, F Morales, F Morales, FM Cox, FS Apple, GS Bodor, H Baum, H Petri, Helen Gregory, I Thorsteinsdottir, Iain Findlay, J De Pooter, J Hoff, J Mathieu, J Mladenovic, JA de Lemos, JK Lau, John Dean, Josephine McGhie, JT Saunders, KM Eggers, L De Ambroggi, M Biener, Maria E. Farrugia, Mark J. Hamilton, Martin A. Denvir, MC Hermans, Monika Rahman, NA Sorensen, P Choudhary, P Kaminsky, R Aggarwal, R Carda, R Valaperta, Richard Petty, Ruben Artero, S Morner, Sarah Cumming, T Matsumura, T Matsumura, T Omland, T Zeller, TC Aw, TJ Wang, V Rakocevic Stojanovic, W Reardon, WJ Groh, WJ Groh, Yvonne Robb   +70 more
core   +18 more sources

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

Changes in pain-related beliefs, coping, and catastrophizing predict changes in pain intensity, pain interference, and psychological functioning in individuals with myotonic muscular dystrophy and facioscapulohumeral dystrophy [PDF]

, 2011
The primary aim of this study was to test hypothesized associations between changes in psychological variables (i.e., pain beliefs, catastrophizing and coping strategies) and changes in pain intensity and related adjustment (i.e., pain interference and ...
Jensen, Mark P., Miró Martínez, Jordi, Nieto Luna, Rubén, Raichle, Katherine A.   +3 more
core   +1 more source

Myotonic Dystrophy: Severity and Maternal Age

Pediatric Neurology Briefs, 1992
The severity of myotonic dystrophy in 17 affected sibling pairs from 15 families in which 2 or more affected children were born to mothers with myotonic dystrophy is reported from the Hospital for Sick Children, London and the Prince of Wales Children’s ...
J Gordon Millichap
doaj   +1 more source

Remimazolam for a patient with myotonic dystrophy type 1 who underwent endoscopic retrograde cholangiopancreatography under general anesthesia: a case report

JA Clinical Reports, 2021
Background Remimazolam is a benzodiazepine receptor agonist with an ultra-short-acting anesthetic effect. We used remimazolam for anesthesia in a patient with myotonic dystrophy type 1 who underwent endoscopic retrograde cholangiopancreatography (ERCP ...
Masakazu Fukuda, Shunsuke Tachibana, Noriaki Nishihara, Michiaki Yamakage   +3 more
doaj   +1 more source

Pulmonary thromboembolism in a patient with myotonic dystrophy type 1

Annals of Indian Academy of Neurology, 2012
Thromboembolism is a rare complication in patients with myotonic dystrophy. While immobilization of patients with advanced disease predisposes to high risk for venous thromboembolism, hypercoagulability could account for venous thromboembolism in ...
Joong-Yang Cho, So-Young Seo, Yong-Jin Cho, Keun-Sik Hong, Hee Kyung Park, Ju Hyun Lee, Sung-Soon Lee   +6 more
doaj   +1 more source

Fuchs' Endothelial and Myotonic Dystrophies: Corneal Dystrophy in Myotonic Patients [PDF]

Investigative Opthalmology & Visual Science, 2017
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De Bernardo, Maddalena, Rosa, Nicola
openaire   +4 more sources

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

Anesthetic management for a patient with myotonic dystrophy with remimazolam

JA Clinical Reports, 2021
Background Patients with myotonic dystrophy may have increased sensitivity to drugs used for anesthesia. We successfully managed general anesthesia in a patient with myotonic dystrophy using a novel intravenous anesthetic, remimazolam.
Yasuhiro Morimoto, Aya Yoshimatsu, Manabu Yoshimura   +2 more
doaj   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source