RESUMO
PURPOSE: Diffuse Brainstem Glioma (DBG) is a catastrophic brain tumor with a survival rate of less than 10% two years after diagnosis despite the existence of different treatment protocols. Among the devices that use magnetic fields generated by Magnetic Resonance Imaging is Quantum Magnetic Resonance Therapy (QMRT). METHODS: Five children diagnosed with DBG in our institution in Mexico City underwent treatment of compassionate use with QMRT between December 2018 and July 2019. A survival analysis was performed with previously reported historical data (n = 15). RESULTS: Two patients (40%) survived after three years of follow-up; the log-rank test showed a statistically significant difference in overall survival between both groups (p = 0.032). All patients tolerated the treatment adequately without reporting any severe clinical or neuroradiological adverse effects. Of the patients included, all showed a decrease in the tumor one month after the end of the treatment, although there was great variability in the response and the difference was not statistically significant (p = 0.06). CONCLUSIONS: Although future investigations are needed to confirm the findings reported in the present study, the improvement in survival is promising for a group of patients whose prognosis has been catastrophic over the years. Trial registration NCT03577600.
Assuntos
Neoplasias do Tronco Encefálico , Glioma , Neoplasias do Tronco Encefálico/diagnóstico por imagem , Neoplasias do Tronco Encefálico/radioterapia , Criança , Ensaios de Uso Compassivo , Glioma/tratamento farmacológico , Glioma/terapia , Humanos , Campos Magnéticos , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , MéxicoRESUMO
There is no evidence that prolonged pre diagnostic symptomatic intervals (PSI) increases the risk of death in pediatric brain tumors. When investigating the role of time previous research had not controlled for confounding variables or measured the pretreatment interval (PTI). We use the term global delay interval (GDI) to describe the sum of PSI and PTI. The aim of this research was to evaluate whether there was a decrease in the probability of survival in children with brain tumors due to a prolonged PSI, PTI and GDI, using a multivariate survival analysis. We retrospective review 127 clinical records labeled with the diagnosis of CNS tumors attended at a specialized pediatric center in Mexico City from January 2008 to December 2012. Patients with PSI and GDI diagnosed between 3 and 6 months showed statistical lower probability of surviving that those with intervals <3 months even when adjusting for age, sex, localization and tumor grade. When stratified for the place of residency and adjusted for sex, age, localization, grade of tumor, type of surgery and coadjuvant therapy, a GDI between 3 and 6 months showed to be a risk factor for the overall survival of brain tumors compared with an interval < 3 months. When analyzing the interaction, high grade tumors are at more risk of dying when GDI was between 3 and 6 months compared to <3 months. Prolonged PSI and GDI showed to be a potential prognostic factor for survival in CNS tumors, especially in high grade tumors. Future prospective research should measure the PSI, PTI and GDI and adjust for covariates in order to properly infer the effect of time in pediatric brain tumors.
Assuntos
Neoplasias Encefálicas/mortalidade , Diagnóstico Tardio/estatística & dados numéricos , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/terapia , Criança , Pré-Escolar , Terapia Combinada , Feminino , Seguimentos , Humanos , Masculino , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Taxa de Sobrevida , Fatores de TempoRESUMO
Abstract Background From the first reports of the linguist Noam Chomsky it has become clear that the development of language has an important genetic component. Several reports in families have shown the relationship between language disorders and genetic polymorphisms. The FOXP2 gene has been a fundamental piece for the understanding of language development. This gene codes for a transcription factor containing a forkhead domain of DNA binding and participates in the regulation of the expression of a large number of genes involved in the embryonic development of fundamental neuronal structures needed for the development of speech and language. Objective To present an updated view of the relationship between FOXP2 and language alterations in psychiatric pathology. Method Narrative review of information reported in databases on the recent advances supporting genetic participation in language disorders of psychiatric illness. Results Update of content related to FOXP2 and its participation in language alterations in psychiatric diseases. Discussion and conclusion Advances in the genetic study of language disorders in psychiatric pathology open up new avenues of investigation that allow us to explore how language emerged and how it evolved, as well as to carry out comparative studies on the structure and functioning of genes to approach the understanding of this complex characteristic that makes us human.
Resumen Antecedentes Desde los primeros reportes del lingüista Noam Chomsky ha quedado claro que el desarrollo del lenguaje tiene un importante componente genético. Diversos reportes en familias han mostrado la relación entre los trastornos del lenguaje y ciertos marcadores genéticos. El gen FOXP2 ha sido una pieza fundamental para entender el desarrollo del lenguaje. Se trata de un gen que codifica para un factor de transcripción con un dominio forkhead de unión al DNA y que participa en la regulación de la expresión de un gran número de genes durante el desarrollo embrionario de estructuras neuronales fundamentales para el desarrollo del habla y el lenguaje. Objetivo Presentar un panorama actualizado de la relación del gen FOXP2 en las alteraciones del lenguaje en la patología psiquiátrica. Método Revisión narrativa de la información reportada en diversas bases de datos sobre los recientes avances que soportan la participación genética en las alteraciones del lenguaje presentes en enfermedades psiquiátricas. Resultados Actualización del contenido relacionado con el gen FOXP2 y su participación en las alteraciones del lenguaje en las enfermedades psiquiátricas. Discusión y conclusión Los avances en el estudio genético de las alteraciones del lenguaje en la patología psiquiátrica abren nuevos caminos de investigación que permiten explorar cómo surgió y cómo ha evolucionado el lenguaje, así como para llevar a cabo estudios comparativos sobre la estructura y el funcionamiento de genes para aproximarse al entendimiento de esta compleja característica que nos hace humanos.