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1.
Clin Neurophysiol ; 154: 116-125, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37595481

RESUMEN

OBJECTIVE: To characterize ictal EEG change in the centromedian (CM) and anterior nucleus (AN) of the thalamus, using stereoelectroencephalography (SEEG) recordings. METHODS: Forty habitual seizures were analyzed in nine patients with pediatric-onset neocortical drug-resistant epilepsy who underwent SEEG (age 2-25 y) with thalamic coverage. Both visual and quantitative analysis was used to evaluate ictal EEG signal in the cortex and thalamus. The amplitude and cortico-thalamic latencies of broadband frequencies at ictal onset were measured. RESULTS: Visual analysis demonstrated consistent detection of ictal EEG changes in both the CM nucleus and AN nucleus with latency to thalamic ictal EEG changes of less than 400 ms in 95% of seizures, with low-voltage fast activity being the most common ictal pattern. Quantitative broadband amplitude analysis showed consistent power changes across the frequency bands, corresponding to ictal EEG onset, while while ictal EEG latency was variable from -18.0 seconds to 13.2 seconds. There was no significant difference between detection of CM and AN ictal activity on visual or amplitude analysis. Four patients with subsequent thalamic responsive neurostimulation (RNS) demonstrated ictal EEG changes consistent with SEEG findings. CONCLUSIONS: Ictal EEG changes were consistently seen at the CM and AN of the thalamus during neocortical seizures. SIGNIFICANCE: It may be feasible to use a closed-loop system in the thalamus to detect and modulate seizure activity for neocortical epilepsy.


Asunto(s)
Epilepsias Parciales , Epilepsia , Neocórtex , Niño , Humanos , Preescolar , Adolescente , Adulto Joven , Adulto , Epilepsias Parciales/diagnóstico , Epilepsia/diagnóstico , Convulsiones , Tálamo , Electroencefalografía
2.
Nat Genet ; 55(2): 209-220, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36635388

RESUMEN

Malformations of cortical development (MCD) are neurological conditions involving focal disruptions of cortical architecture and cellular organization that arise during embryogenesis, largely from somatic mosaic mutations, and cause intractable epilepsy. Identifying the genetic causes of MCD has been a challenge, as mutations remain at low allelic fractions in brain tissue resected to treat condition-related epilepsy. Here we report a genetic landscape from 283 brain resections, identifying 69 mutated genes through intensive profiling of somatic mutations, combining whole-exome and targeted-amplicon sequencing with functional validation including in utero electroporation of mice and single-nucleus RNA sequencing. Genotype-phenotype correlation analysis elucidated specific MCD gene sets associated with distinct pathophysiological and clinical phenotypes. The unique single-cell level spatiotemporal expression patterns of mutated genes in control and patient brains indicate critical roles in excitatory neurogenic pools during brain development and in promoting neuronal hyperexcitability after birth.


Asunto(s)
Epilepsia , Malformaciones del Desarrollo Cortical , Humanos , Multiómica , Encéfalo/metabolismo , Epilepsia/genética , Mutación , Malformaciones del Desarrollo Cortical/genética , Malformaciones del Desarrollo Cortical/metabolismo
3.
Clin Neurol Neurosurg ; 180: 97-100, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-30953974

RESUMEN

OBJECTIVES: Social media is evolving and growing at an exponential rate today. From a healthcare perspective, these platforms can be used to enhance professional networking, education, organizational promotion, patient care, patient education, and public health programs without the limitations of geographic and time-related access barriers. Given the possible importance of social media in medicine, and the conflicting reports in literature about its use in healthcare, it is important to identify its utility within the neurosurgical community. We set out to measure the use of social media platforms among neurosurgery faculty, fellows, and residents. PATIENTS AND METHODS: An online survey using the SurveyMonkey platform was sent to the program directors of 102 accredited neurosurgery programs across the United States. Program directors then distributed these surveys to the residents, fellows, and attendings at their respective institutions once each month between October 2017 and December 2017. Neurosurgeons participated anonymously, voluntarily, and received no compensation for their participation. Statistical analysis was performed using the IBM SPSS Statistics for Windows, Version 25 (IBM SPSS Statistics for Windows, IBM Corporation, Armonk, NY). RESULTS: 137 attendings, 96 residents, and 8 fellows responded to the survey (81% male). Most (70%) stated that they used social media for professional purposes. Sixty percent of all respondents believed that social media can be beneficial in terms of professional development. Younger neurosurgeons in training were more likely to read journal articles found via social media and were more likely to believe social media could be beneficial than older neurosurgeons at later stages in their career. CONCLUSIONS: Results point toward differences in social media use based on age or level of training. Further studies should include a larger sample cohort over a longer time period to determine whether these trends will change over time.


Asunto(s)
Neurocirujanos/estadística & datos numéricos , Neurocirugia/estadística & datos numéricos , Medios de Comunicación Sociales/estadística & datos numéricos , Adulto , Factores de Edad , Anciano , Actitud del Personal de Salud , Estudios de Cohortes , Femenino , Humanos , Internado y Residencia , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios , Estados Unidos
4.
J Clin Neurosci ; 21(4): 680-3, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24269552

RESUMEN

Antiphospholipid syndrome (APS) is an autoimmune condition involving arterial and venous thrombosis. An unusual APS variant, catastrophic antiphospholipid syndrome (CAPS), includes rapid multi-organ failure from widespread small vessel thrombosis. Central nervous system complications arise in one-third of CAPS patients. In rare cases, CAPS co-manifests with cerebellar hemorrhage presenting a neurosurgical emergency. We present a 65-year-old woman with CAPS-related cerebellar hematoma, co-morbid idiopathic thrombocytopenic purpura, deep vein thrombosis and altered mental status, with treatment complicated by thrombocytopenia. The patient suddenly deteriorated, secondary to a cerebellar subdural hematoma, and underwent decompression and excision of the hematoma. After recovery in the intensive care unit, she developed a new spontaneous epidural hematoma requiring additional surgery. Management of these patients is hematologically complex and often requires a multi-disciplinary team of physicians. This patient provides an important learning point for clinicians - consider CAPS when hemorrhage and thrombosis are present.


Asunto(s)
Síndrome Antifosfolípido/cirugía , Procedimientos Neuroquirúrgicos , Anciano , Síndrome Antifosfolípido/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Encéfalo/cirugía , Resultado Fatal , Femenino , Estudios de Seguimiento , Humanos , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
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