کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6041216 | 1189276 | 2016 | 21 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study
ترجمه فارسی عنوان
بیماری های عضلانی مرتبط با هیپرترمی بدخیم در بیماران کودکان: یک مطالعه گذشته نگر 25 ساله
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
چکیده انگلیسی
Malignant Hyperthermia (MH) is a rare pharmacogenetic syndrome that can be fatal and the risk of MH in non RYR1-related disorders is unknown. We conducted a retrospective study to determine the prevalence of neuromuscular disorders among patients with MH at our centre. Patients who were admitted to the Hospital for Sick Children during the study period of January 1, 1990 to April 1, 2015 with a CK levelâ>â8000âIU/L, or who received dantrolene, or who had a clinical diagnosis of MH were included. Medical records of 166 patients who met the inclusion criteria were reviewed and 13 patients were identified with MH-like reactions. Nine patients were classified as having true MH after review of the anaesthesia record and genetic testing results were available for 7 patients, 5 of whom had mutations in RYR1. Of the four patients who had severe reactions to anaesthesia but did not meet the criteria for true MH, two had Duchenne muscular dystrophy (DMD). In this retrospective study over 25 years, RYR1 mutations were the most common cause of MH in our cohort, and of these, one third had an underlying neuromuscular diagnosis. Genetic testing of RYR1 is indicated for all patients with MH, and anaesthetic precautions should be considered for any child with symptoms of neuromuscular disease.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 26, Issue 3, March 2016, Pages 201-206
Journal: Neuromuscular Disorders - Volume 26, Issue 3, March 2016, Pages 201-206
نویسندگان
Ahmed K. Bamaga, Sheila Riazi, Kimberly Amburgey, Shaun Ong, William Halliday, Phedias Diamandis, Anne-Marie Guerguerian, James J. Dowling, Grace Yoon,