{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T00:18:00Z","timestamp":1707524280886},"reference-count":13,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,9,6]]},"DOI":"10.7759\/cureus.17761","type":"journal-article","created":{"date-parts":[[2021,9,6]],"date-time":"2021-09-06T18:34:27Z","timestamp":1630953267000},"source":"Crossref","is-referenced-by-count":1,"title":["MEGDEL Syndrome and Its Anesthetic Implications"],"prefix":"10.7759","author":[{"given":"Balazs","family":"Horvath","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathleen M","family":"Pfister","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexis","family":"Rupp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin","family":"Kloesel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.01.013","article-title":"Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation","volume":"88","author":"Wortmann S","year":"2006","unstructured":"Wortmann S, Rodenburg RJ, Huizing M, et al.. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Mol Genet Metab. 2006, 88:47-52. 10.1016\/j.ymgme.2006.01.013","journal-title":"Mol Genet Metab"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2325","article-title":"Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness","volume":"44","author":"Wortmann SB","year":"2012","unstructured":"Wortmann SB, Vaz FM, Gardeitchik T, et al.. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet. 2012, 44:797-802. 10.1038\/ng.2325","journal-title":"Nat Genet"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25110","article-title":"Progressive deafness-dystonia due to SERAC1 mutations: a study of 67 cases","volume":"82","author":"Maas RR","year":"2017","unstructured":"Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, et al.. Progressive deafness-dystonia due to SERAC1 mutations: a study of 67 cases. Ann Neurol. 2017, 82:1004-15. 10.1002\/ana.25110","journal-title":"Ann Neurol"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2020.03.009","article-title":"MEGDEL syndrome","volume":"110","author":"Finsterer J","year":"2020","unstructured":"Finsterer J, Scorza FA, Fiorini AC, Scorza CA. MEGDEL syndrome. Pediatr Neurol. 2020, 110:25-9. 10.1016\/j.pediatrneurol.2020.03.009","journal-title":"Pediatr Neurol"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9759-7","article-title":"Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids","volume":"38","author":"Wortmann SB","year":"2015","unstructured":"Wortmann SB, Espeel M, Almeida L, et al.. Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. J Inherit Metab Dis. 2015, 38:99-110. 10.1007\/s10545-014-9759-7","journal-title":"J Inherit Metab Dis"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.2174\/157488612802715681","article-title":"Effects of anesthetics on mitochondrial signaling and function","volume":"7","author":"La Monaca E","year":"2012","unstructured":"La Monaca E, Fodale V. Effects of anesthetics on mitochondrial signaling and function. Curr Drug Saf. 2012, 7:126-39. 10.2174\/157488612802715681","journal-title":"Curr Drug Saf"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1097\/00000542-200610000-00029","article-title":"Clinical implications of mitochondrial dysfunction","volume":"105","author":"Muravchick S","year":"2006","unstructured":"Muravchick S, Levy RJ. Clinical implications of mitochondrial dysfunction. Anesthesiology. 2006, 105:819-37. 10.1097\/00000542-200610000-00029","journal-title":"Anesthesiology"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1213\/ANE.0000000000000539","article-title":"Acute ketamine impairs mitochondrial function and promotes superoxide dismutase activity in the rat brain","volume":"120","author":"Ven\u00e2ncio C","year":"2015","unstructured":"Ven\u00e2ncio C, F\u00e9lix L, Almeida V, Coutinho J, Antunes L, Peixoto F, Summavielle T. Acute ketamine impairs mitochondrial function and promotes superoxide dismutase activity in the rat brain. Anesth Analg. 2015, 120:320-8. 10.1213\/ANE.0000000000000539","journal-title":"Anesth Analg"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1213\/ANE.0000000000000872","article-title":"Ketamine and mitochondrial function","volume":"122","author":"Morgan PG","year":"2016","unstructured":"Morgan PG, Sedensky MM, Kayser EB. Ketamine and mitochondrial function. Anesth Analg. 2016, 122:917-8. 10.1213\/ANE.0000000000000872","journal-title":"Anesth Analg"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1213\/ANE.0000000000001001","article-title":"In response","volume":"122","author":"Summavielle T","year":"2016","unstructured":"Summavielle T, Ven\u00e2ncio C, Antunes L. In response. Anesth Analg. 2016, 122:918-20. 10.1213\/ANE.0000000000001001","journal-title":"Anesth Analg"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1213\/ANE.0000000000005430","article-title":"Anesthetic hypersensitivity in a case-controlled series of patients with mitochondrial disease","author":"Hsieh VC","year":"2021","unstructured":"Hsieh VC, Niezgoda J, Sedensky MM, Hoppel CL, Morgan PG. Anesthetic hypersensitivity in a case-controlled series of patients with mitochondrial disease. Anesth Analg. 2021, 10.1213\/ANE.0000000000005430","journal-title":"Anesth Analg"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1177\/2326409817707770","article-title":"Mitochondrial disease and anesthesia","volume":"5","author":"Hsieh VC","year":"2017","unstructured":"Hsieh VC, Krane EJ, Morgan PG. Mitochondrial disease and anesthesia. J Inborn Errors Metab Screen. 2017, 5:10.1177\/2326409817707770","journal-title":"J Inborn Errors Metab Screen"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2016.6012","article-title":"Dexmedetomidine attenuates lipopolysaccharide-induced acute lung injury by inhibiting oxidative stress, mitochondrial dysfunction and apoptosis in rats","volume":"15","author":"Fu C","year":"2017","unstructured":"Fu C, Dai X, Yang Y, Lin M, Cai Y, Cai S. Dexmedetomidine attenuates lipopolysaccharide-induced acute lung injury by inhibiting oxidative stress, mitochondrial dysfunction and apoptosis in rats. Mol Med Rep. 2017, 15:131-8. 10.3892\/mmr.2016.6012","journal-title":"Mol Med Rep"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/69154-megdel-syndrome-and-its-anesthetic-implications","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T19:28:52Z","timestamp":1707506932000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/69154-megdel-syndrome-and-its-anesthetic-implications"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,6]]},"references-count":13,"URL":"https:\/\/doi.org\/10.7759\/cureus.17761","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2021,9,6]]}}}