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1.
Int J Mol Sci ; 25(8)2024 Apr 14.
Artículo en Inglés | MEDLINE | ID: mdl-38673919

RESUMEN

Glioblastoma, a highly aggressive brain tumor, poses significant treatment challenges. A deeper investigation into its molecular complexity is essential for the identification of novel prognostic biomarkers and therapeutic strategies, potentially improving patient outcomes in terms of survival and quality of life. While nuclear DNA mutations have been extensively studied, the role of mitochondrial DNA (mtDNA) mutations, specifically in the D-loop region, remains poorly understood. This prospective case-control study aimed to assess the prognostic significance of the mtDNA D-loop m.16126T>C variant in glioblastoma patients. Immunohistochemistry and droplet digital PCR (ddPCR) were employed for mutation analysis, complemented by statistical analyses and a literature review. The study cohort comprised 22 glioblastoma patients (mean age 59.36 ± 14.17, 12 (54.55%) females), and 25 controls (59.48 ± 13.22, 12 (80%) females). The D-loop m.16126T>C variant was observed in four (18%) of the glioblastoma samples and was associated with shorter median survival (9.5 vs. 18 months; p = 0.016, log-rank test). This study underscores the importance of investigating mtDNA, especially D-loop variants, in glioblastoma, suggesting its potential as a prognostic biomarker and, therefore, its possible therapeutic targets, warranting further exploration.


Asunto(s)
Biomarcadores de Tumor , Neoplasias Encefálicas , ADN Mitocondrial , Glioblastoma , Mutación , Humanos , Glioblastoma/genética , Glioblastoma/mortalidad , Glioblastoma/patología , Femenino , Masculino , Persona de Mediana Edad , Pronóstico , ADN Mitocondrial/genética , Biomarcadores de Tumor/genética , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patología , Neoplasias Encefálicas/mortalidad , Anciano , Proyectos Piloto , Estudios de Casos y Controles , Estudios Prospectivos , Adulto
2.
World Neurosurg ; 161: e464-e472, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35176521

RESUMEN

BACKGROUND: Traumatic brain injury (TBI) poses a particular health risk for the elderly. The recently developed elderly TBI (eTBI) score combines the prognostic information of the risk factors characteristic of the geriatric population. We aimed to determine its validity and reliability on an independent sample. METHODS: We present a retrospective analysis of 506 consecutive patients after TBI aged ≥65 years. The previously described nomogram and the eTBI score were used. The primary outcome measure was mortality or vegetative state at 30 days after hospital admission. RESULTS: Mortality or vegetative state rate was 21.3%. The nomogram and eTBI Score showed similar predictive performance with accuracy of 83.8% (95% confidence interval 80.2%-87%) and 84.4% (95% confidence interval 80.8%-87.6%), respectively. On the basis of the Youden index and C4.5 algorithm, we divided patients according to the 3-tier pattern into low-, high-, and medium-risk groups. The outcome prediction in the first 2 groups was correct in 93.1% (survival in the low-risk group) and 94.4% (mortality in the high-risk group). Patients included in the medium-risk group usually required surgical treatment (85.3%) and were characterized by increased mortality or vegetative state (55%). Among patients with eTBI ≥5 (n = 221), there was no difference in outcome between those treated conservatively and surgically. CONCLUSIONS: This is the first study confirming the validity of the eTBI Score and its close association with outcome of geriatric population after TBI. The novel 3-tier risk stratification scheme was applicable to both conservatively and surgically treated patients.


Asunto(s)
Lesiones Traumáticas del Encéfalo , Estado Vegetativo Persistente , Anciano , Lesiones Traumáticas del Encéfalo/diagnóstico , Lesiones Traumáticas del Encéfalo/cirugía , Estudios de Casos y Controles , Humanos , Reproducibilidad de los Resultados , Estudios Retrospectivos
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