Antecedentes familiares en epilepsias refractarias al tratamiento

Alonso-Cerezo, Concepción; Herrera-Peco, Iván; Fernández-Millares, Víctor; Pastor, Jesús; Palacios-Espichan, Jorge; Hernando‐Requejo, Virgilio; Ortega, Guillermo; Sola, Rafael G.

doi:10.33588/rn.5209.2010728

Cited by 7 publications

(1 citation statement)

References 18 publications

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“…Respecto al tipo de epilepsia la mas predominante fue el de tipo focal 44% seguido de epilepsia de tipo generalizada en el 33% lo cualno coincide con la literatura internacional pues la reportada con mas frecuente es la focal como se describe en el estudio de Alonso et al, además se reporto un 30% de sindrome espilépticos predominante Ausencias Infantiles seguido síndrome de Doose,Lennox Gastaut en menor porcentaje de Síndrome Doose y Landau Klefnner. La etiología de la epilepsia en el 44% fue de tipo estructural (12,13). Durante décadas la concepción del neurodesarrollo, su abordaje y evaluación se basaban en 4 áreas: motora fina, motora gruesa, social y lenguaje pero en los últimos años se han propuestos nuevos modelos como el socio-ecológico en cual trata de integrar la capacidad adaptativa con pilar fundamental del desarrollo del niño y basado en este concepto se utilizó en nuestro estudio la Escala PEDI-CAT que en la cual se evalúo 4 dominios : actividades diarias, movilidad, social cognitiva y responsabilidad (14)(15)(16).…”

Section: Resultsunclassified

Aplicación De Escala De Evaluación Pediátrica Del Inventario De Discapacidad-Prueba Adaptativa Por Computadora (Pedi-Cat) en Pacientes Con Epilepsia.

Quintana¹,

Pérez²,

Alvarez-Amado³

et al. 2022

Enferm. investig.

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Introducción: La epilepsia representa una de las principales causas de morbilidad en neuropediatría. El inicio temprano de las crisis epilépticas, se relaciona con menor desempeño intelectual a largo plazo, y alteraciones en las habilidades adaptativas. Objetivo: Aplicar escala de evaluación pediátrica del inventario de discapacidad-prueba adaptativa por computadora (PEDI-CAT) en pacientes pediátricos con epilepsia. Métodos: Se realizó un estudio de nivel descriptivo, tipo observacional, prospectivo, trasversal y analítico, realizado el Departamento de Neurología Pediátrica del Hospital Infantil de México Federico Gómez, en la Ciudad de México. El reclutamiento de los pacientes fue durante abril y diciembre de 2020. Resultados: los pacientes con epilepsia presentaron un percentil <5 en sus habilidades de movilidad 22 (35,4%), actividades diarias 19(30,6%), social-cognitivas 19(30,6%), lo que significa que están por debajo de rango normal comparado con niños de su edad. Conclusiones: los pacientes con epilepsia presentaron un percentil <5 en el dominio de actividades diarias, movilidad y social-cognitiva, lo que significa que están por debajo de rango normal comparado con niños de su edad. Por tanto, la epilepsia debe ser considerado un trastorno que afecta la capacidad adaptativa de los pacientes y no sólo una patología cuya manifestación son las crisis, su detección temprano con el uso de escalas como PEDI-CAT se traduce en la identificación y planificación de estrategias terapéuticas eficaces para mejorar calidad de vida de los pacientes Palabras Clave: Epilepsia, Conducta Adaptativa, Trastornos del Neurodesarrollo. ABSTRACT Introduction: Epilepsy represents one of the main causes of morbidity in pediatric neurology. The early onset of epileptic seizures is related to lower long-term intellectual performance, and alterations in adaptive skills. Objective: To apply the Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT) report in pediatric patients with epilepsy. Methods: A descriptive, observational, prospective, cross-sectional and analytical study was carried out in the Department of Pediatric Neurology at Hospital Infantil de México Federico Gómez, in Mexico City. Patient recruitment took place between April and December 2020. Results: patients with epilepsy presented a <5 percentile in their mobility skills 22 (35.4%), daily activities19 (30.6%), social-cognitive 19 (30.6%), which means that they are below of normal range compared to children his age. Conclusions: patients with epilepsy presented a <5 percentile in the domain of daily activities, mobility and social-cognitive, which means that they are below the normal range compared to children of their age. Therefore, epilepsy should be considered a disorder that affects the adaptive capacity of patients and not just a pathology whose manifestation is seizures, its early detection with the use of scales such as PEDI-CAT translates into the identification and planning of strategies effective therapeutics to improve the quality of life of patients Keywords: Epilepsy, Adaptation, Psychological, Neurodevelopmental Disorders.

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Section: Resultsunclassified

Aplicación De Escala De Evaluación Pediátrica Del Inventario De Discapacidad-Prueba Adaptativa Por Computadora (Pedi-Cat) en Pacientes Con Epilepsia.

Quintana¹,

Pérez²,

Alvarez-Amado³

et al. 2022

Enferm. investig.

View full text Add to dashboard Cite

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CYP3A5*3 and C3435T MDR1 Polymorphisms in Prognostication of Drug-Resistant Epilepsy in Children and Adolescents

Emich-Widera

Likus

Kazek

et al. 2013

BioMed Research International

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Drug-resistant epilepsies still remain one of the most profound problems of contemporary epileptology. Several mechanisms of drug resistance are possible; among them, genetic factors have a prominent place. Much importance is attached to genes, which encode enzymes that metabolize antiepileptic drugs CYP 3A, which belong to the family of cytochromes P450 and the genome of multidrug resistance, such as multidrug resistance 1 (MDR1) that expresses P-glycoprotein (P-gp), a drug transporter protein. The aim of the study was to assess the relation between polymorphism of gene CYP3A5 and polymorphism C3435T of MDR1 gene with the occurrence of focal, drug-resistant epilepsy in children and youths up to 18 years of age. The study comprised 85 patients, and their age range was from 33 months to 18 years of age, suffering from epilepsy, partly responding well to treatment, partly drug resistant. The polymorphism of both genes has been analysed using the PCR-RFLP method. The study failed to corroborate association between polymorphism CYP3A5∗3 and C3435T polymorphism in MDR1 gene and pharmacoresistant epilepsy. The results of our research do not confirm the prognostic value of the polymorphisms examined in the prognostication of drug resistance in epilepsies.

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Identifying and Analyzing Novel Epilepsy-Related Genes Using Random Walk with Restart Algorithm

Guo

Shang

Cao

et al. 2017

BioMed Research International

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As a pathological condition, epilepsy is caused by abnormal neuronal discharge in brain which will temporarily disrupt the cerebral functions. Epilepsy is a chronic disease which occurs in all ages and would seriously affect patients' personal lives. Thus, it is highly required to develop effective medicines or instruments to treat the disease. Identifying epilepsy-related genes is essential in order to understand and treat the disease because the corresponding proteins encoded by the epilepsy-related genes are candidates of the potential drug targets. In this study, a pioneering computational workflow was proposed to predict novel epilepsy-related genes using the random walk with restart (RWR) algorithm. As reported in the literature RWR algorithm often produces a number of false positive genes, and in this study a permutation test and functional association tests were implemented to filter the genes identified by RWR algorithm, which greatly reduce the number of suspected genes and result in only thirty-three novel epilepsy genes. Finally, these novel genes were analyzed based upon some recently published literatures. Our findings implicate that all novel genes were closely related to epilepsy. It is believed that the proposed workflow can also be applied to identify genes related to other diseases and deepen our understanding of the mechanisms of these diseases.

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Antecedentes familiares en epilepsias refractarias al tratamiento

Cited by 7 publications

References 18 publications

Aplicación De Escala De Evaluación Pediátrica Del Inventario De Discapacidad-Prueba Adaptativa Por Computadora (Pedi-Cat) en Pacientes Con Epilepsia.

Aplicación De Escala De Evaluación Pediátrica Del Inventario De Discapacidad-Prueba Adaptativa Por Computadora (Pedi-Cat) en Pacientes Con Epilepsia.

CYP3A5*3 and C3435T MDR1 Polymorphisms in Prognostication of Drug-Resistant Epilepsy in Children and Adolescents

Identifying and Analyzing Novel Epilepsy-Related Genes Using Random Walk with Restart Algorithm

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