Αρχειοθήκη ιστολογίου

Αλέξανδρος Γ. Σφακιανάκης
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5
Άγιος Νικόλαος Κρήτη 72100
2841026182
6032607174

Κυριακή 6 Μαΐου 2018

General Anesthetic Use in Fragile X Spectrum Disorders

The fragile X premutation is characterized by a repeat expansion mutation (between 55 to 200 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene, which leads to RNA toxicity at the cellular level. This may cause patients with the premutation to be particularly susceptible to environmental toxins, which could manifest clinically as new or worsening ataxia and memory loss. Multiple published case reports have also suggested general anesthetics as a potential toxin leading to negative side effects when used in patients with fragile X- associated disorders. However, at this time, there have been no formal research studies regarding cellular changes or long-term clinical manifestations after general anesthetic use in this population. This review aims to highlight previous case reports regarding sequelae related to general anesthetic use in fragile X-associated disorders. New case reports related to this phenomenon are also included. Supported through NICHD grant HD036071, the MIND Institute Intellectual and Developmental Disabilities Research Center (grant U54 HD079125) and the National Center for Advancing Translational Sciences and National Institutes of Health (grant UL1 TR001860). The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. R.H. has received support from Novartis, Alcobra, Neuren, and Marinus for studies in fragile X syndrome. She has also consulted with Zynerba, Fulcrum, and Ovid regarding studies in fragile X syndrome. The remaining authors have no conflicts of interest to disclose. Address correspondence to: Randi Hagerman, MD, MIND Institute, UCDMC, 2825 50th Street, Sacramento, CA 95817 (e-mail: rjhagerman@ucdavis.edu). Received August 23, 2017 Accepted April 10, 2018 Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved

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