Results 11 to 20 of about 17,131 (226)
Anesthesia for a Patient with Myotonic Dystrophy
Haseki Tıp Bülteni, 2016 Myotonic dystrophy is the most common myotonic syndrome causing abnormalities of the skeletal and smooth muscles as well as problems related to the cardiac, gastrointestinal and endocrine systems. In affected people, reduced functional residual capacity,
Dilek Kalaycı +6 more
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Antenatal Indomethacin Treatment for Congenital Myotonic Dystrophy
Case Reports in Obstetrics and Gynecology, 2019 Myotonic dystrophy is an autosomal-dominant disorder. Its congenital type is the most severe form, with respiratory failure that can be a life-threatening event after birth. There are no antenatal treatments that can improve neonatal outcomes of myotonic
Kyohei Yamaguchi +5 more
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Targeting myotonic dystrophy by preimplantation genetic diagnosis-karyomapping
Taiwanese Journal of Obstetrics & Gynecology, 2019 Objective: To report a case with Myotonic dystrophy type I with successful preimplantation genetic diagnosis-karyomapping. Case report: A 34-year-old female carrier of myotonic dystrophy type I was treated at our clinic with a successful pregnancy after ...
Cheng-Wei Wang +2 more
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PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1
Revista Paulista de Pediatria, 2020 Objective: To present a case of bilateral gynecomastia in a prepubertal boy with autism spectrum disorder, diagnosed with myotonic dystrophy type 1. Case description: A 12-year-old boy with autism spectrum disorder presented at a follow-up visit with ...
Patrícia Sofia Ferreira Miranda +5 more
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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
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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 +6 more
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Pediatric Neurology Briefs, 1987 Ten infants with congenital myotonic dystrophy admitted to the Dept Pediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital, London, 1982-86, were investigated by ultrasonography or CT brain scans between 1 day and 2 ...
J Gordon Millichap
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Myotonic Dystrophy: An Anaesthetic Dilemma
Indian Journal of Anaesthesia, 2009 Myotonic dystrophy (dystrophia myotonica, DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age.
N Gupta +4 more
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Role of Myotonic Dystrophy Protein Kinase [DMPK] in Glucose Homeostasis and Muscle Insulin Action [PDF]
, 2007 Myotonic dystrophy 1 (DM1) is caused by a CTG expansion in the 3′-unstranslated region of the DMPK gene, which encodes a serine/threonine protein kinase. One of the common clinical features of DM1 patients is insulin resistance, which has been associated
Liesa Marc +49 more
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Myotonic dystrophy: genetics and clinical polymorphism
Анналы клинической и экспериментальной неврологии, 2019 Myotonic dystrophy is the most common form of hereditary progressive muscular dystrophy in adults. The disorder is characterized by progressive course, autosomal dominant inheritance and multisystem involvement (skeletal muscles, myocardium, endocrine ...
Ekaterina O. Ivanova +4 more
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