Enfermedad de MELAS en Latinoamérica: revisión temática

Wilfor Aguirre-Quispe; Mariana Valdez-Taboada; Luis Urbina-Ramírez; Andrea Rivera-Valdivia; Elison Sarapura-Castro; Julio Montoya; Mario Cornejo-Olivas

doi:10.20453/RNP.V84I4.4137

Enfermedad de MELAS en Latinoamérica: revisión temática

Wilfor Aguirre-Quispe, Mariana Valdez-Taboada, Luis Urbina-Ramírez, Andrea Rivera-Valdivia, Elison Sarapura-Castro, Julio Montoya, Mario Cornejo-Olivas

Producción científica: Contribución a una revista › Artículo de revisión › revisión exhaustiva

1 Cita (Scopus)

Resumen

A thematic review on MELAS in Latin America between 1990 and 2021 was conducted through a systematic literature search on LILACs, Scielo, PubMed/Medline and Scopus databases. Nineteen case reports/series out of 966 publications were selected and included 51 patients, 42 of them with genetic diagnosis reported in eight Latin American countries. The m.3243A> G variant was the most frequently reported, the mean age at onset being 12 ± 9.7 years, with a mild female predominance. The most frequent neurological features were stroke-like episodes and seizures. Neuroimaging tests highlighted ischemic stroke-like lesions as well as calcified lesions in the basal ganglia.

Título traducido de la contribución	MELAS in Latin America
Idioma original	Español
Páginas (desde-hasta)	316-332
Número de páginas	17
Publicación	Revista de Neuro-Psiquiatria
Volumen	84
N.º	4
DOI	https://doi.org/10.20453/RNP.V84I4.4137
Estado	Publicada - oct. 2021
Publicado de forma externa	Sí

Palabras clave

MELAS syndrome
Mitochondrial diseases
Mitochondrial encephalomyopathies
Mitochondrial genes

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10.20453/RNP.V84I4.4137

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title = "Enfermedad de MELAS en Latinoam{\'e}rica: revisi{\'o}n tem{\'a}tica",

abstract = "A thematic review on MELAS in Latin America between 1990 and 2021 was conducted through a systematic literature search on LILACs, Scielo, PubMed/Medline and Scopus databases. Nineteen case reports/series out of 966 publications were selected and included 51 patients, 42 of them with genetic diagnosis reported in eight Latin American countries. The m.3243A> G variant was the most frequently reported, the mean age at onset being 12 ± 9.7 years, with a mild female predominance. The most frequent neurological features were stroke-like episodes and seizures. Neuroimaging tests highlighted ischemic stroke-like lesions as well as calcified lesions in the basal ganglia.",

keywords = "MELAS syndrome, Mitochondrial diseases, Mitochondrial encephalomyopathies, Mitochondrial genes",

author = "Wilfor Aguirre-Quispe and Mariana Valdez-Taboada and Luis Urbina-Ram{\'i}rez and Andrea Rivera-Valdivia and Elison Sarapura-Castro and Julio Montoya and Mario Cornejo-Olivas",

year = "2021",

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doi = "10.20453/RNP.V84I4.4137",

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AU - Urbina-Ramírez, Luis

AU - Rivera-Valdivia, Andrea

AU - Sarapura-Castro, Elison

AU - Montoya, Julio

AU - Cornejo-Olivas, Mario

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Enfermedad de MELAS en Latinoamérica: revisión temática

Resumen

Palabras clave

ODS de las Naciones Unidas

Acceder al documento

Otros archivos y enlaces

Huella

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