Seguridad en Pediatría

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An adult case of acute encephalopathy associated with general anaesthesia and the m.11232T>C MT-ND4 variant

Revista Española de Anestesiología y Reanimación (English Edition), Corrected proof, 502103. doi:10.1016/j.redare.2026.502103
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An adult case of acute encephalopathy associated with general anaesthesia ans the m 11232T CMT ND4 variant.pdf
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3 MB
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An adult case of acute encephalopathy associated with general anaesthesia and the m.11232T>C MT-ND4 variant

Effects of a Mitochondrial Genetic Variant on Sevoflurane Hypersensitivity

DOI: 10.1097/ALN.0000000000006029 Anesthesiology, Volume. 144, Issue. 6, Abstract Background: Recently, various anesthesiology societies have reported cases involving pediatric patients of Venezuelan origin who underwent surgery under general anesthesia and subsequently developed serious neurologic impairment or died. However, the cause of this condition was unknown. Methods: Clinical and genetic studies were conducted on seven patients who experienced severe acute neurologic deterioration after the administration of general anesthetics during predominantly minor surgical procedures. Genetic–molecular, biochemical, and cellular studies were also performed on fibroblasts and cybrids treated with general anesthetics. Results: In our cohort, acute perioperative events were observed in temporal association with anesthetic exposure. No adverse events were observed in a subset of the same individuals when only intravenous anesthesia was used. All patients shared a mitochondrial DNA haplotype that includes the m.11232T>C genetic variant, which results in the substitution of proline for leucine at position 158 (L158P) of the ND4 subunit of respiratory complex I in the electron transport chain. In vitro studies showed that sevoflurane exposure in cells carrying this genetic variant induces a pronounced suppression of mitochondrial oxygen consumption, with prominent effects on complex I–dependent respiratory pathways. In contrast, propofol did not elicit a differential effect in cells harboring this genetic variant. Conclusions: These findings suggest that individuals carrying the m.11232T>C mitochondrial DNA variant may be at increased risk of severe neurologic deterioration after exposure to anesthetic agents. Further studies are needed to define the underlying mechanisms and to determine anesthetic-specific risks. These results have important implications for improving the safety of surgical interventions and open new avenues in the field of mitochondrial pharmacogenetics of general anesthesia. (Anesthesiology 2026; 144:1286–98)
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Anesthesiology Effects of a Mitochondrial Genetic Variant on Sevofluorane Hypersensitivity.pdf
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1 MB
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Effects of a Mitochondrial Genetic Variant on Sevoflurane Hypersensitivity

Classical mitochondrial phenotypes Neurology 2003

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Classical mitochondrial phenotypes Neurology 2003.pdf
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190 KB
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Classical mitochondrial phenotypes Neurology 2003

Anesthesia-Related Neurologic Risk in Patients of Venezuelan Descent: Implications for Ophthalmology

American Journal of Ophthalmology, 289 (2026) 129-133. doi:10.1016/j.ajo.2026.05.004
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Diehl Case Summaries AJO 2026.pdf
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Anesthesia-Related Neurologic Risk in Patients of Venezuelan Descent: Implications for Ophthalmology

Ancient Mitochondrial Genetic Variant, Modern-day Pandora's Box

DOI: 10.1097/ALN.0000000000006030 Anesthesiology, Volume. XXX, Issue. 00,
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Levy Morgan Ancient Mitochondrial Genetic Variant, Modern-day Pandora’s Box Anesthesiology Editorial 202.pdf
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Ancient Mitochondrial Genetic Variant, Modern-day Pandora's Box

Potential Mitochondrial Pharmacogenetic Susceptibility to Severe Neurologic Events after General Anesthesia: Report from the Chilean Ministry of Health

DOI: 10.1097/ALN.0000000000005935 Anesthesiology, Volume. XXX, Issue. 00,
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Potential Mitochondrial Pharmacogenetic Susceptibility to Severe Neurologic Events after General Anesthesia Report from the Chilean Minist.pdf
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Potential Mitochondrial Pharmacogenetic Susceptibility to Severe Neurologic Events after General Anesthesia: Report from the Chilean Ministry of Health


Sociedad Espanola de Anestesia (SEDAR) Comunicado Alerta Mitocondrial

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Sociedad Espanola de Anestesia (SEDAR) Comunicado Alerta Mitocondrial.pdf
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Sociedad Espanola de Anestesia (SEDAR) Comunicado Alerta Mitocondrial