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1.
Pediatr Neurol ; 134: 52-58, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35835026

RESUMEN

BACKGROUND: Hypoxic-ischemic encephalopathy (HIE) occurs in 1-4:1000 live births. Although neonates with moderate-severe HIE have been studied over several decades, newborns with mild HIE remain understudied, including seizure occurrence, electroencephalography (EEG) characteristics, and outcome. METHODS: We conducted a retrospective cohort study of neonates ≥35 weeks of gestation with mild HIE who underwent therapeutic hypothermia to correlate the early EEG background pattern with clinical course and outcomes. RESULTS: Of the included 29 neonates, 10 infants had a moderately to severely abnormal EEG background and 19 had either a normal or a mildly abnormal background. Those with moderately to severely abnormal background also had more multiorgan dysfunction (90% vs 42%, P = 0.02) and a higher incidence of subdural and intraventricular hemorrhages (80% vs 26%, P = 0.02). The overall seizure incidence was 20.7% and was significantly higher in newborns with more severely abnormal background compared to neonates with less abnormal background (50% vs 5%; P = 0.01; relative risk, 9.5; 95% confidence interval, 1.28-70.6). Seizure onset was between 11 and 63 hours of life. Regardless of the EEG background pattern, seizures were brief with an overall low seizure burden. None of the newborns with normal or mildly abnormal background had a new onset of seizures after 24 hours of recording or developed epilepsy during infancy. CONCLUSIONS: In neonates with mild HIE, early moderately to severely abnormal EEG background is common and strongly associated with an increased risk for seizures.


Asunto(s)
Hipotermia Inducida , Hipoxia-Isquemia Encefálica , Electroencefalografía , Humanos , Hipotermia Inducida/efectos adversos , Lactante , Recién Nacido , Estudios Retrospectivos , Convulsiones/etiología
2.
Semin Pediatr Neurol ; 39: 100917, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34620465

RESUMEN

Pediatric epilepsy surgery is underutilized. Only 1%-11% of children with drug resistant epilepsy (DRE) undergo surgical treatment, or less than half of those estimated to benefit. We conducted a systematic review of articles published in PubMed, EMBASE, and Web of Science in order to study the factors related to surgery underutilization as well as the impact on both the individual and the healthcare system. Our review demonstrates multiple factors leading to underutilization, including family misconceptions about epilepsy surgery, lack of provider knowledge, as well as systemic health disparities. While the upfront cost of epilepsy surgery is significant, the long-term financial benefits and reduced health resource utilization tilt the economic advantage in favor of surgery in children with DRE. Additionally, timely interventions improve seizure and cognitive outcomes with low risk of complications. Further interventions are needed at the levels of family, provider, and the healthcare system to increase access to pediatric epilepsy surgery.


Asunto(s)
Epilepsia Refractaria , Epilepsia , Niño , Epilepsia Refractaria/diagnóstico , Epilepsia Refractaria/cirugía , Epilepsia/cirugía , Humanos , Convulsiones
3.
Pediatr Neurosurg ; 55(6): 351-358, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33260181

RESUMEN

INTRODUCTION: Preoperative functional MRI (fMRI) and intraoperative awake cortical mapping are established strategies to identify and preserve critical language structures during neurosurgery. There is growing appreciation for the need to similarly identify and preserve eloquent tissue critical for music production. CASE REPORT: A 19-year-old female musician, with a 3- to 4-year history of events concerning for musicogenic seizures, was found to have a right posterior temporal tumor, concerning for a low-grade glial neoplasm. Preoperative fMRI assessing passive and active musical tasks localized areas of activation directly adjacent to the tumor margin. Cortical stimulation during various musical tasks did not identify eloquent tissue near the surgical site. A gross total tumor resection was achieved without disruption of singing ability. At 9-month follow-up, the patient continued to have preserved musical ability with full resolution of seizures and without evidence of residual lesion or recurrence. CONCLUSION: A novel strategy for performing an awake craniotomy, incorporating preoperative fMRI data for music processing with intraoperative cortical stimulation, interpreted with the assistance of a musician expert and facilitated gross total resection of the patient's tumor without comprising her musical abilities.


Asunto(s)
Corteza Auditiva , Neoplasias Encefálicas , Música , Adulto , Corteza Auditiva/diagnóstico por imagen , Mapeo Encefálico , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/cirugía , Craneotomía , Femenino , Humanos , Imagen por Resonancia Magnética , Recurrencia Local de Neoplasia , Vigilia , Adulto Joven
4.
J Child Neurol ; 34(13): 830-836, 2019 11.
Artículo en Inglés | MEDLINE | ID: mdl-31339419

RESUMEN

Perinatal stroke is a significant cause of severe epilepsy, including epileptic spasms. Although epileptic spasms due to underlying structural lesion often respond poorly to treatment and evolve into drug-resistant epilepsy, outcomes are not uniformly poor, and predictors of outcomes are not well described. We performed a single-institution retrospective review of epileptic spasms following perinatal stroke to determine if outcome depended on vascular subtype. We identified 24 children with epileptic spasms due to perinatal ischemic stroke: 11 cases of perinatal arterial stroke and 13 cases of perinatal venous infarct. Initial response to treatment was similar between groups; however, although children with perinatal arterial stroke who responded to epileptic spasms therapy had high rates of seizure freedom, many children with perinatal venous infarct, regardless of initial response, had residual drug-resistant epilepsy. We consider whether the mechanism for epileptogenesis may be different between arterial and venous strokes, and whether these 2 groups should be monitored for epileptic spasms, and subsequent epilepsy, differently.


Asunto(s)
Espasmos Infantiles/diagnóstico , Espasmos Infantiles/etiología , Accidente Cerebrovascular/complicaciones , Encéfalo/diagnóstico por imagen , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Pronóstico , Estudios Retrospectivos , Espasmos Infantiles/tratamiento farmacológico , Accidente Cerebrovascular/diagnóstico
5.
Curr Gerontol Geriatr Res ; 2012: 463909, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22545043

RESUMEN

Down syndrome (DS) is a condition where a complete or segmental chromosome 21 trisomy causes variable intellectual disability, and progressive memory loss and neurodegeneration with age. Many research groups have examined development of the brain in DS individuals, but studies on age-related changes should also be considered, with the increased lifespan observed in DS. DS leads to pathological hallmarks of Alzheimer's disease (AD) by 40 or 50 years of age. Progressive age-related memory deficits occurring in both AD and in DS have been connected to degeneration of several neuronal populations, but mechanisms are not fully elucidated. Inflammation and oxidative stress are early events in DS pathology, and focusing on these pathways may lead to development of successful intervention strategies for AD associated with DS. Here we discuss recent findings and potential treatment avenues regarding development of AD neuropathology and memory loss in DS.

6.
J Child Neurol ; 27(6): 791-5, 2012 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-22190508

RESUMEN

Disruptions to LIS1 gene expression result in neuronal migration abnormalities. LIS1 heterozygosity is a significant cause of lissencephaly, while overexpression has recently been noted in cases of microcephaly, ventriculomegaly, and dysgenesis of the corpus callosum with normal cortical gyration. We report a partial LIS1 duplication in a child with microcephaly, neurodevelopmental delays, and profound white matter atrophy in the absence of overt lissencephaly. The duplicated genetic segment was contained entirely within the first intron of LIS1, a segment that often contains inducers of transcription. Normal gyral patterns with mild volume loss were observed at birth. Follow-up cranial imaging revealed further white matter loss, diminished sulcation, and ventriculomegaly, suggesting expanding hydrocephalus ex vacuo. The radiographic pattern has not been documented in the presence of a LIS1 gene abnormality, and suggests that altered expression of LIS1 has wider phenotypic manifestations than currently defined.


Asunto(s)
1-Alquil-2-acetilglicerofosfocolina Esterasa/genética , Lisencefalias Clásicas y Heterotopias Subcorticales en Banda/genética , Lisencefalias Clásicas y Heterotopias Subcorticales en Banda/fisiopatología , Genes Duplicados/genética , Proteínas Asociadas a Microtúbulos/genética , Fenotipo , Lisencefalias Clásicas y Heterotopias Subcorticales en Banda/diagnóstico por imagen , Lisencefalias Clásicas y Heterotopias Subcorticales en Banda/patología , Progresión de la Enfermedad , Estudios de Seguimiento , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Análisis por Micromatrices , Radiografía , Tomógrafos Computarizados por Rayos X
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