Epilepsia do lobo temporal com esclerose hipocampal mesial / Temporal lobe epilepsy with mesial hippocampal sclerosis / Epilepsia del lóbulo temporal con esclerosis del hipocampo mesial

Objetivo:Compreender o cenário atual da ELT-HS, caracterizado por sua fisiopatologia, manifestações clínicas, métodos diagnósticos e tratamentos. Método:Trata-se de uma revisão integrativa da literatura, com caráter descritivo, de artigos indexados no Sistema de Análise e Recuperação da Literatura Médica Online MEDLINE/Pubmed, Literatura Latino-Americana e do Caribe em Ciências da Saúde LILACS, e nas bases de dados Científicas Electronic Library Online (SciELO), pesquisados na período compreendido entre outubro de 2022 e março de 2023. Foram incluídos artigos em português e inglês que contemplassem os objetivos da revisão, publicados nos últimos dez anos (2011-2021).Resultados: Inicialmente foram encontrados 144 artigos nas bases de dados, que após a leitura, foramselecionados na pesquisa 40 artigos que correspondiam ao objetivo proposto. Os artigos analisados correspondem aos anos de 2011 a 2021. Conclusão:O tratamento cirúrgico da ELT-HS tem se mostrado eficaz para resolução completa das crises na maioria dos pacientes. O conhecimento sobre sua fisiopatologia, manifestações clínicas, diagnóstico e tratamentos são de fundamental importância para os médicos que atendem pacientes com epilepsia.

Objective: To understand the current scenario of TLE-HS, characterized by its pathophysiology, clinical manifestations, diagnostic methods and treatments. Method:This is an integrative literature review with descriptive character, of articles indexed in the Medical Literature Analysis And Retrieval System Online MEDLINE/Pubmed, Latin American and Caribbean Literature in Health Sciences LILACS, and Scientic databases Electronic Library Online (SciELO), researched in the period between october 2022 and march 2023. Articles in Portuguese and English that contemplated the objectives of the review, published in the last ten years (2011-2021), were included. Results:Initially, 144 articles were found in the databases, which after reading, 40 articles were selected in the research that corresponded to the proposed objective. The articles analyzed are equivalent to the years 2011 to 2021. Conclusion:The surgical treatment of TLE-HS has been shown to be effective for the complete resolution of crises in most patients. Knowledge about its pathophysiology, clinical manifestations, diagnosis and treatments are of fundamental importance for physicians who treat patients with epilepsy

Objetivo: Comprender el escenario actual de la TLE-HS, caracterizado por su fisiopatología, manifestaciones clínicas, métodos diagnósticos y tratamientos. Método: Se trata de una revisión bibliográfica integradora con carácter descriptivo, de artículos indexados en el Sistema de Análisis y Recuperación de Literatura Médica en Línea MEDLINE/Pubmed, Literatura Latinoamericana y del Caribe en Ciencias de la Salud LILACS, y bases de datos Scientic Electronic Library Online (SciELO), investigados en el período comprendido entre octubre de 2022 y marzo de 2023. Se incluyeron artículos en portugués e inglés que contemplaran los objetivos de la revisión, publicados en los últimos diez años (2011-2021). Resultados:Inicialmente se encontraron 144 artículos en las bases de datos, de los cuales luego de la lectura se seleccionaron 40 artículos en la investigación que correspondía al objetivo propuesto. Los artículos analizadoscorresponden a los años 2011 a 2021. Conclusión:El tratamiento quirúrgico del ELT-HS se ha mostrado eficaz para la resolución completa de las crisis en la mayoría de los pacientes. El conocimiento sobre su fisiopatología, manifestaciones clínicas, diagnóstico y tratamientos es de fundamental importancia para los médicos que tratan pacientes con epilepsia

Phytochemical and anticonvulsant screening of three medicinal plants used in the treatment of epilepsy in the south-western part of Nigeria

The burden of epilepsy in developing countries made medicinal plants like Xylopia aethiopica fruit; Khaya grandifoliola, Alstonia boonei etc an alternative source in epilepsy management in the south-western part of Nigeria. The aim of the study was to provide pharmacological rationale for the ethnomedicinal use of the plants in epilepsy management. The oral medial lethal dose of methanol stem bark extracts of Alstonia boonei (MEAB) and Khaya grandifoliola (MEKG) and methanol fruit extract of Xylopia aethiopica (MEXAF) were done in accordance with the Organization for Economic Cooperation Development guideline. Quantitative and qualitative phytochemical profiling of the extracts was done. Anticonvulsant screening was carried out on the extracts (doses: 75, 150 and 300 mg/kg) using the pentylenetetrazole (PTZ)-induced seizure and maximum electroshock tests (MEST). Results showed that the MEXAF has the highest amount of phytochemicals except for saponins in MEKG; and MEAB with the least amount (but higher alkaloid) than MEKG. The TLC showed different bands of spots of the extracts. In the PTZ test, MEXAF showed 100 % protection against mortality at 300 mg/kg; MEAB with 66.67 % protection at 75 mg/kg and MEKG 0 % protection. MEAB, MEKG and MEXAF nonsignificantly increased the onset of seizure and latency to death. In the MEST, MEXAF, MEKG and MEAB at 75 mg/kg protected 50, 33.3 and 16.67% of the animals against tonic hind limb extension respectively and nonsignificantly (p˃0.05) decreased the recovery time at a dose of 75 mg/kg. It was concluded that the extracts possess anticonvulsant activities hence, the pharmacological credence for the ethnomedicinal use of these plants in treating epilepsy.

Theta Oscillations Support Prefrontal-hippocampal Interactions in Sequential Working Memory / 神经科学通报·英文版

The prefrontal cortex and hippocampus may support sequential working memory beyond episodic memory and spatial navigation. This stereoelectroencephalography (SEEG) study investigated how the dorsolateral prefrontal cortex (DLPFC) interacts with the hippocampus in the online processing of sequential information. Twenty patients with epilepsy (eight women, age 27.6 ± 8.2 years) completed a line ordering task with SEEG recordings over the DLPFC and the hippocampus. Participants showed longer thinking times and more recall errors when asked to arrange random lines clockwise (random trials) than to maintain ordered lines (ordered trials) before recalling the orientation of a particular line. First, the ordering-related increase in thinking time and recall error was associated with a transient theta power increase in the hippocampus and a sustained theta power increase in the DLPFC (3-10 Hz). In particular, the hippocampal theta power increase correlated with the memory precision of line orientation. Second, theta phase coherences between the DLPFC and hippocampus were enhanced for ordering, especially for more precisely memorized lines. Third, the theta band DLPFC → hippocampus influence was selectively enhanced for ordering, especially for more precisely memorized lines. This study suggests that theta oscillations may support DLPFC-hippocampal interactions in the online processing of sequential information.

Correlation of early neurodevelopmental features of children with SYNGAP1 variants and their genotypes / 中华医学遗传学杂志

OBJECTIVE@#To explore the early neurodevelopmental features of young children with SYNGAP1 variants and their genotype-phenotype correlation.@*METHODS@#Young children with neurodevelopmental disorders (NDDs) (< 5 years old) who were referred to the Children's Hospital Affiliated to the Capital Institute of Pediatrics between January 2019 and July 2022 were selected as the study subjects. All children had undergone whole-exome sequencing, comprehensive pediatric neuropsychological assessment, familial segregation analysis, and pathogenicity classification. Meanwhile, young Chinese NDD children (< 5 years old) with pathogenic/likely pathogenic SYNGAP1 variants were retrieved from the literature, with information including detailed clinical and genetic testing, neurodevelopmental quotient (DQ) of the Children Neuropsychological and Behavior Scale-Revision 2016 (CNBS-R2016). Children who did not have a detailed DQ but had their developmental status assessed by a medical professional were also included. The correlation between neurodevelopmental severity, comorbidity and SYNGAP1 variants were summarized.@*RESULTS@#Four young NDD children carrying SYNGAP1 variants were recruited (1 male and 3 females, with a mean age of 34.0 ± 18.2 months), among whom one harboring a novel variant (c.437C>G, p.S146*). Combined with 19 similar cases retrieved from the literature, 23 Chinese NDD young children were included in our study (8 males and 10 females, 5 with unknown sex, with a mean age of 37.1 ± 14.2 months). A loss of function (LOF) variant was found in 19 (82.6%) children. All of the children had presented global developmental delay (GDD) before the age of two. In addition, 16 (69.6%) had seizure/epilepsy at the age of 27.0 ± 12.1 months, among whom 15 had occurred independent of the global developmental delay. Myoclonic and absence were common types of seizures. Compared with those with variants of exons 8 to 15, the severity of developmental delay was milder among children with variants in exons 1 to 5.@*CONCLUSION@#The early neurodevelopment features of the SYNGAP1 variants for young children (< 5 years old) have included global developmental delay and seizure/epilepsy. All of the children may present GDD before the age of two. The severity of developmental delay may be related to the type and location of the SYNGAP1 variants.

Síndrome de apnea del sueño en población colombiana con epilepsia empleando la escala de apnea del sueño del cuestionario de trastornos del sueño / Sleep apnea syndrome in a Colombian population with epilepsy using the Sleep Apnea Scale of the Sleep Disorders Questionnaire

Introducción: La epilepsia es un desorden caracterizado por la predisposición a generar crisis epilépticas, mientras que el síndrome de apnea del sueño (SAOS) ha sido reconocido como un desorden crónico de colapso intermitente de la vía aérea que genera hipoxia recurrente. En este trabajo se aplicó la escala de trastornos del sueño (Sleep Apnea Scale of the Sleep Disorders Questionnaire SA-SDQ), previamente validada en inglés para pacientes con epilepsia, a fin de determinar su capacidad para detectar apnea de sueño en nuestra población. Materiales y métodos: En una primera etapa se realizó la adaptación transcultural de la escala SA-SDQ en castellano, provista por los autores, al español colombiano. Luego se recopiló la información de los pacientes en quienes se realizó polisomnografía entre mayo y agosto del 2022 y se determinó el valor de corte para diagnosticar SAOS con la escala SA-SDQ. Resultados: Cuarenta pacientes pudieron realizarse la polisomnografía, de los cuales 30 (75 %) tuvieron índices de apnea-hipopnea superiores a 5, lo que indica SAOS. El área bajo la curva fue 0,790 y la puntuación SA-SDQ de 21 proporcionó una sensibilidad del 73,3 % (IC 53,83-87,02 %) y una especificidad del 80 % (IC 44,2-96,5 %). La consistencia interna fue aceptable (α = 0,713). Conclusiones: La escala SA-SDQ es un instrumento útil para tamizar SAOS en la población colombiana que padece epilepsia. Nuestros resultados indican que los puntos de corte sugeridos anteriormente (2936 para hombres y 26-32 para mujeres) pueden ser demasiado altos para nuestra población. Sugerimos un punto de corte de 21 para ambos.

Introduction: Epilepsy is a disorder characterized by a predisposition to have epileptic seizures, while sleep apnea syndrome (OSAS) has been recognized as a chronic disorder of intermittent collapse of the airway that generates recurrent hypoxia. In this work, the sleep disorders scale (SA-SDQ) previously validated in English for patients with epilepsy was applied to determine its ability to detect sleep apnea in our population. Materials and methods: In the first stage, the cross-cultural adaptation of the SA-SDQ scale in Spanish provided by the authors was carried out into Colombian Spanish. then the information of the patients in whom polysomnography was performed between May and August 2022 was collected and the cut-off value was determined to diagnose OSAS with the SA-SDQ scale. Results: 40 patients were able to undergo polysomnography, of which 30 (75 %) had apnea-hypopnea indices greater than five, indicating OSAS. The area under the curve was 0.790 and the SA-SDQ score of 21 provided a sensitivity of 73.3 % (CI 53.83-87.02 %) and a specificity of 80 % (CI 44.2-96, 5 %). The internal consistency was acceptable (α = 0.713). Conclusions: The SA-SDQ scale is a useful instrument for screening OSAS in the Colombian population suffering from epilepsy. Our results indicate that the previously suggested cut-off points (29-36 for men and 26-32 for women) may be too high in our population. We suggest a cutoff of 21 for both.

Síndrome de Ramsay Hunt en paciente epiléptico en Santander, Colombia: Reporte de caso / Ramsay Hunt Syndrome in an epileptic patient in Santander, Colombia: Case report

El Síndrome de Ramsay Hunt es una entidad infrecuente, con una incidencia de 5 por cada 100.000 personas por año. Esta condición se caracteriza por una reactivación del virus de la varicela-zoster en el nervio facial. Su diagnóstico implica un reto para el médico puesto que suele ser netamente clínico, con la aparición de una triada consistente en: otalgia, parálisis facial ipsilateral y vesículas en el canal auditivo. El objetivo del artículo es presentar el caso de una mujer de 49 años de edad, con antecedente de epilepsia en tratamiento anticonvulsivante, quien ingresa con la triada clínica antes descrita, asociada a visión borrosa derecha y vértigo. La paciente fue tratada con antivirales y corticoides orales, presentando una resolución clínica favorable dado una reducción de más del 50% de las lesiones cutáneas. No se identificaron diferencias respecto a la presentación clínica de este síndrome al compararse con pacientes no epilépticos.

Ramsay Hunt Syndrome is a rare entity, with an incidence of 5 per 100,000 people per year. This condition is characterized by a reactivation of the varicella-zoster virus in the facial nerve. Its diagnosis implies a challenge for the physician since it is usually a clinical diagnosis, with the appearance of a clinical triad consisting of: otalgia, ipsilateral facial paralysis and vesicles in the ear canal. The objective of the article is to present the case of a 49-year-old woman, with a history of epilepsy receiving anticonvulsant treatment, who was admitted with the aforementioned clinical triad, associated with blurred right vision and vertigo. The patient was treated with oral antiviral management and oral corticosteroids, presenting a favorable clinical resolution given a reduction of more than 50% of the skin lesions. No differences were identified regarding the clinical presentation of this syndrome when compared with non-epileptic patients.

Predictive factors for successful vagus nerve stimulation in patients with refractory epilepsy: real-life insights from a multicenter study

Vagus nerve stimulation (VNS) therapy is an established treatment for patients with drug-resistant epilepsy that reduces seizure frequency by at least 50% in approximately half of patients; however, the characteristics of the patients with the best response have not yet been identified. Thus, it is important to identify the profile of patients who would have the best response to guide early indications and better patient selection.

A terapia com estimulação do nervo vago (ENV) é um tratamento estabelecido para pacientes com epilepsia resistente a medicamentos que reduz a frequência de crises em pelo menos 50% em aproximadamente metade dos pacientes; entretanto, as características dos pacientes com melhor resposta ainda não foram identificadas. Assim, é importante identificar o perfil de pacientes que teriam melhor resposta para orientar indicações precoces e melhor seleção de pacientes.

Contracepção em situações especiais / Contraception in special situations

A decisão de escolha do método contraceptivo em situações clínicas especiais é desafiadora tanto para médicos quanto para pacientes. Em parte, isso se deve às contraindicações reais que alguns contraceptivos apresentam. Porém, há uma estreita relação com a falta de conhecimento e medo de muitos profissionais em prescrever métodos que, na realidade, são seguros. A má escolha do método contraceptivo para pacientes portadoras de condições específicas pode levar a diversos desfechos ruins, como piora da condição de base, ocorrência de eventos adversos indesejáveis e preveníveis e ocorrência de gravidez de alto risco indesejada. Dessa forma, foi realizada uma revisão na literatura com o objetivo de auxiliar profissionais médicos na decisão contraceptiva de pacientes portadoras de doenças reumatológicas e musculoesqueléticas, epilepsia, esclerose múltipla, transtornos alimentares, anemia falciforme e obesidade, e que já foram submetidas a cirurgia bariátrica.(AU)

The decision to choose the contraceptive method in special clinical situations is challenging for both physicians and patients. In part, this is due to the real contraindications that some contraceptives present. However, there is a close relationship with the lack of knowledge and fear of many professionals in prescribing methods that are actually safe. The poor choice of contraceptive method in patients with specific conditions can lead to several bad outcomes, such as worsening of the baseline condition, occurrence of undesirable and preventable adverse events and occurrence of an unwanted high-risk pregnancy. Thus, a literature review was carried out in order to assist medical professionals in the contraceptive decision of patients with rheumatological and musculoskeletal diseases, epilepsy, multiple sclerosis, eating disorders, sickle cell anemia, obesity and who have already undergone bariatric surgery.(AU)

Neurocisticercosis y epilepsia en un hospital universitario de Popayán, Colombia: una serie de casos / Neurocysticercosis and epilepsy in a university hospital in Popayán, Colombia: A case series

RESUMEN INTRODUCCIÓN: La neurocisticercosis es una infección del sistema nervioso central causada por el estadio larvario del cestodo Taenia solium, y se estima que puede ocasionar hasta 30% de los casos de epilepsia en los países donde esta parasitosis es endémica. El objetivo de este estudio fue determinar la frecuencia de pacientes que presentaron epilepsia como secuela de neurocisticercosis en un hospital universitario en Popayán. MATERIALES Y MÉTODOS: Se realizó un estudio retrospectivo con todos los pacientes con diagnóstico de neurocisticercosis que ingresaron al Hospital Universitario San José entre enero 2014 y diciembre 2018 que cumplieron los criterios de inclusión. RESULTADOS: Se encontraron 50 pacientes, de estos, 40 (80%) reingresaron, encontrándose que 37 (74%) presentaron epilepsia como secuela. Las edades más afectadas fueron la de 41 a 60 años; 48 (96%) provenían del departamento del Cauca en especial de Mercaderes, y 33 (66%) de área rural. El síndrome convulsivo fue la manifestación clínica de ingreso más frecuente. La TAC fue la técnica de imagen de elección. CONCLUSIÓN: El departamento del Cauca se considera como una de las áreas endémicas para neurocisticercosis en Colombia, y la epilepsia secundaria es un secuela común.

ABSTRACT INTRODUCTION: Neurocysticercosis is an infection of the central nervous system caused by the larval stage of the cestode Taenia solium, it has been estimated to produce up to 30% of the cases in countries where this parasitosis is endemic. The objective of this study was to determine the frequency of patients who presented epilepsy as a sequel of neurocysticercosis in a university hospital in Popayán. MATERIALS AND METHODS: A retrospective study was conducted with all patients with a diagnosis of neurocysticercosis who were admitted to the Hospital Universitario San José between January 2014 and December 2018 who met the inclusion criteria. RESULTS: We found 50 patients, 40 (80%) of which were readmitted and 37 (74%) presented epilepsy as sequela. The most affected age-group was 41 to 60 years; 48 (96%) were from the department of Cauca, especially Mercaderes, and 33 (66%) from rural areas. Convulsive syndrome was the most frequent clinical manifestation on admission. CT was the imaging technique of choice. CONCLUSION: The department of Cauca is considered as an endemic area for neurocysticercosis, and secondary epilepsy was a common consequence.

Historia de la Liga Chilena contra la Epilepsia (LICHE). Conmemorando sus 70 años / History of the Chilean League against Epilepsy. 70 anniversary

La Liga Chilena contra la Epilepsia (LICHE), es una corporación sin fines de lucro, dedicada a apoyar a los pacientes con epilepsia y su entorno, educar en epilepsia, solidarizar con ellos en los aspectos psicosociales y socioeconómicos, procurándoles una mejor calidad de vida. Es parte del capítulo del International Bureau for Epilepsy (IBE). Cumple 70 años de labor y en este artículo se expone su historia y trayectoria, siendo un ejemplo mundial de manejo integral de pacientes con epilepsia y el impacto en la comunidad.

The Chilean League against Epilepsy (LICHE), a non-profit corporation, dedicated to supporting patients with epilepsy and their environment, educating in epilepsy, solidarity with them in psychosocial and socioeconomic aspects, worrying about a better quality of life. It is part of the chapter of the International Bureau for Epilepsy (IBE). It celebrates 70 years of work and this article exposes its history and trajectory, being a world example of integral management of patients with epilepsy and the impact on the community

Deficiencia del transportador de glucosa tipo 1: aspectos clínicos, diagnóstico y terapéutica / Glucose transporter type 1 deficiency syndrome: clinical aspects, diagnosis, and treatment

El síndrome de deficiencia del transportador de glucosa tipo 1 es una enfermedad de causa genética, que involucra el gen SLC2A1. En general, se presenta durante los primeros años de vida con retraso en la adquisición de pautas madurativas, epilepsia farmacorresistente y desórdenes del movimiento. La clínica y la disminución de glucosa en líquido cefalorraquídeo permiten sospechar el diagnóstico, el cual debe ser confirmado mediante el estudio molecular del gen SLC2A1. Debido a que se trata de una enfermedad poco frecuente y de expresión clínica variable, el diagnóstico precoz suele representar un desafío para los equipos de salud. Este es importante, ya que la implementación de la terapia cetogénica logra controlar las manifestaciones clínicas y mejora el pronóstico a largo plazo. Presentamos una revisión sobre el déficit del transportador de glucosa tipo 1, que abarca sus características clínicas, bioquímicas, moleculares y terapéuticas.

Glucose transporter type 1 deficiency with a typical onset is a genetic disorder associated with the SLC2A1 gene. Usually appears during the first years of life with severe developmental delay, drugresistant epilepsy, and movement disorders. Diagnosis is suspected based on clinical manifestations and a low glucose level in cerebrospinal fluid, and should be confirmed by the molecular genetic study of the SLC2A1 gene. As it is a rare disease with variable clinical expression, early diagnosis is often challenging for the healthcare team. Nevertheless, this is important because early implementation of ketogenic therapy will lead to control of the clinical manifestations and a better long-term prognosis. Here we review the glucose transporter type 1 deficiency syndrome focusing on its clinical, biochemical, molecular, and therapeutic characteristics.

Implicações odontológicas do consumo da dieta cetogênica para tratamento da epilepsia / Dental implications of the consumption of a ketogenic diet for the treatment of epilepsy

A epilepsia configura-se como sendo uma patologia crónica oriunda de manifestação elétrica cerebral de caráter anormal, que ocasiona repercussões neurológicas. O tratamento da epilepsia emprega a administração medicamentosa e também pode utilizar o recurso da dieta cetogénica. Sabe-se que o recurso da utilização da dieta cetogênica para enfrentamento da epilepsia promove repercussões a nível da saúde bucal dos enfermos em tratamento. O objetivo deste artigo foi evidenciar como o emprego da dieta cetogênica na terapia utilizada para enfrentamento da epilepsia pode influenciar na saúde bucal dos indivíduos em tratamento. O tratamento medicamentoso da epilepsia emprega anticonvulsivantes e muitas vezes requer o uso de mais de um medicamento para tratamento, o que pode acarretar efeitos adversos a nível sistêmico e oral. Merecem atenção e cuidados odontológicos comumente o tratamento com fármacos por intermédio da administração da fenitoína, geralmente utilizada para tratamento da epilepsia, que pode trazer repercussões odontológicas e alterações periodontais, como a hiperplasia gengival. O conhecimento e a conscientização por parte dos cirurgiões dentistas acerca dos cuidados odontológicos que devem ser adotados para esses pacientes especiais portadores de epilepsia são de suma importância para realização de uma abordagem odontológica. Concluiu-se que as repercussões bucais oriundas da epilepsia devem ser identificadas e tratadas imediatamente, ao passo que o cirurgião dentista contata os pacientes enfermos, uma vez que caso contrário pode-se conviver com agravantes e piora no quadro odontológico apresentado, portanto deve-se primar por impedir a evolução desfavorável do estado de saúde bucal dos pacientes.

Epilepsy is a chronic pathology arising from an abnormal electrical brain manifestation, which causes neurological repercussions. The treatment of epilepsy employs drug administration and can also use the ketogenic diet. It is known that the use of the ketogenic diet to cope with epilepsy promotes repercussions in terms of the oral health of patients undergoing treatment. The objective of this article was to show how the use of the ketogenic diet in the therapy used to cope with epilepsy can influence the oral health of individuals undergoing treatment. Drug treatment of epilepsy uses anticonvulsants and often requires the use of more than one drug for treatment, which can lead to adverse systemic and oral effects. Treatment with drugs through the administration of phenytoin, generally used for the treatment of epilepsy, which can bring dental repercussions and periodontal changes, such as gingival hyperplasia, deserves attention and dental care. Knowledge and awareness on the part of dental surgeons about the dental care that should be adopted for these special patients with epilepsy are of paramount importance for carrying out a dental approach. It was concluded that the oral repercussions arising from epilepsy should be identified and treated immediately, while the dental surgeon contacts sick patients, since otherwise one can live with aggravating factors and worsening of the dental condition presented, therefore, one should excel in preventing the unfavorable evolution of the patients' oral health status.

Hallazgos de autopsias en la muerte súbita en epilepsia. Revisión bibliográfica y reporte de casos / Autopsy findings in Sudden Death in Epilepsy. Bibliographic review and case repo

Introducción: La muerte súbita en epilepsia, es la complicación más temida de la epilepsia y se reconoce como una de las principales causas de muerte prematura en adultos jóvenes con epilepsia; sin embargo, aún es poco reconocida, informada y escasamente investigada por los profesionales de la salud, lo que ha condicionado al escaso progreso en su detección y prevención. Metodología: Se realizó una revisión narrativa mediante la búsqueda de artículos, en Pubmed, Google académico y Lilacs; utilizando las palabras clave en inglés y español: SUDEP, epilepsia, autopsia, autopsia molecular y sus combinaciones. Además, se analizaron cinco expedientes de la base de datos de la Dirección de Medicina Forense de Tegucigalpa, consignados como SUDEP. Resultados: De los cinco casos analizados, cuatro (80%) eran mujeres y uno hombre; cuatro (80%) no fueron presenciados y ocurrieron durante el sueño. El 80 % (4) de los casos eran menores de 40 años, los hallazgos de autopsia tanto macroscópicos, como microscópicos son similares a los reportado por otros autores. En el análisis de 28 artículos se encontró que el diagnostico de la SUDEP, aun representa un desafío. Conclusión: Pese a que hay avances significativos en la comprensión de los mecanismos y factores de riesgo que contribuyen a la SUDEP, aún es necesario realizar más investigación...(AU)

Evolución clínica, cognitiva y calidad de vida posquirúrgica en un caso con síndrome de Lennox Gastaut / Clinical and Cognitive Evolution and Postoperative Quality of Life in a Case with Lennox Gastaut Syndrome

Introducción: El síndrome de Lennox Gastaut se considera una encefalopatía epiléptica. Las anomalías epileptiformes en este síndrome contribuyen a la discapacidad intelectual gradual, a las comorbilidades psiquiátricas y alteraciones conductuales. En la práctica clínica aparecen atipicidades del síndrome, con focalización funcional cuyo tratamiento constituye un desafío. Objetivo: Describir la evolución clínica, cognitiva y calidad de vida en un caso con síndrome de Lennox Gastaut antes, y después del tratamiento quirúrgico. Presentación del caso: Paciente masculino de 16 años con síndrome de Lennox Gastaut. Se revisó la historia clínica y se tomaron en consideración, los resultados del video-electroencefalograma, de la resonancia magnética nuclear y de la tomografía computarizada por emisión de fotón único. Se evaluó, además, el proceder quirúrgico, la evaluación clínica y neuropsicológica. Se realizó una descripción cualitativa de la evolución del paciente a los 6 meses y al año de la intervención quirúrgica. Conclusiones: el paciente con síndrome de Lennox Gastaut presentó una evolución favorable después del tratamiento quirúrgico, lo cual se reflejó en una disminución en la frecuencia de las crisis. mejoría cognitiva, conductual y mejor calidad de vida(AU)

Introduction: Lennox Gastaut syndrome is considered an epileptic encephalopathy. Epileptiform abnormalities in this syndrome contribute to gradual intellectual disability, psychiatric comorbidities and behavioral disturbances. In clinical practice, atypicalities of the syndrome appear with functional focalization whose treatment constitutes a challenge. Objective: To describe the clinical and cognitive evolution and quality of life in a case with Lennox Gastaut syndrome before and after surgical treatment. Case presentation: A 16-year-old male patient with Lennox Gastaut syndrome. The clinical history was reviewed and the results of the video-electroencephalogram, nuclear magnetic resonance and single photon emission computed tomography were taken into consideration. The surgical procedure, clinical and neuropsychological evaluation were also evaluated. A qualitative description of the patient's evolution past 6 months and one year after surgery was prepared. Conclusions: the patient with Lennox Gastaut syndrome has a favorable evolution after surgical treatment, which is reflected in a decrease in seizure frequency, cognitive and behavioral improvement and better quality of life(AU)

Conectividad funcional a partir de la perfusión cerebral en pacientes epilépticos y con enfermedad de Parkinson / Functional connectivity from cerebral perfusion in patients with epilepsy and Parkinson's disease

Introducción: La epilepsia y la enfermedad de Parkinson han sido descritos como trastornos de redes neurales. El estudio de la conectividad por modalidades moleculares puede ser más relevante fisiológicamente que los basados en señales hemodinámicas. Objetivo: Proponer una metodología para la descripción de patrones de conectividad funcional a partir de la perfusión cerebral por tomografía por emisión de fotón único. Métodos: La metodología incluye cuatro pasos principales: preprocesamiento espacial, corrección del volumen parcial, cálculo del índice de perfusión y obtención de la matriz de conectividad funcional mediante el coeficiente de correlación de Pearson. Se implementó en 25 pacientes con distintos trastornos neurológicos: 15 con epilepsia farmacorresistente y 10 con enfermedad de Parkinson. Resultados: Se encontraron diferencias significativas entre los índice de perfusión de varias regiones de los hemisferios ipsilateral y contralateral tanto en pacientes con epilepsia del lóbulo frontal como en pacientes con epilepsia del lóbulo temporal. Igual resultado se obtuvo en los pacientes con enfermedad de Parkinson con distintos estadios de la enfermedad. Para cada grupo se identificaron patrones de conectividad funcional que involucran a regiones relacionadas con la patología en estudio. Conclusiones: Con el desarrollo de esta metodología se ha demostrado que la tomografía por emisión de fotón único aporta información valiosa para estudiar la organización de las redes funcionales del cerebro. Futuras investigaciones con mayor número de pacientes contribuirían a hacer inferencias sobre los correlatos neurales de los distintos trastornos cerebrales(AU)

Introduction: Epilepsy and Parkinson's disease have been described as disorders of neural networks. The study of connectivity by molecular modalities may be more physiologically relevant than those based on hemodynamic signals. Aim: The aim of the present work is to propose a methodology for the description of functional connectivity patterns from brain perfusion by single photon emission tomography. Methods: The methodology includes four main steps: spatial preprocessing, partial volume correction, calculation of the perfusion index and obtaining the functional connectivity matrix using Pearson's correlation coefficient. It was implemented in 25 patients with different neurological disorders: 15 with drug-resistant epilepsy and 10 suffering Parkinson's disease. Results: Significant differences were found between the perfusion indexes of various regions of the ipsilateral and contralateral hemispheres in both patients with frontal lobe epilepsy and patients with temporal lobe epilepsy. The same result was obtained in Parkinson's disease patients with different stages of the disease. For each group, functional connectivity patterns involving regions related to the pathology under study were identified. Conclusions: With the development of this methodology, it has been demonstrated that single photon emission tomography provides valuable information to study the organization of functional brain networks. Future research with a larger number of patients would contribute to make inferences about the neural correlates of the different brain disorders(AU)

Registro de epilepsias na gravidez, complicações obstétricas e fetais e o uso de drogas antiepilépticas em Alagoas-BR / Registry of epilepsy during pregnancy, obstetric and fetal complications and the use of antiepileptic drugs in Alagoas-BR

Objetivos: artigo 1: Descrever a prevalência das nas mulheres gestantes com epilepsia (MGCE), perfil sociodemográfico e desfechos obstétricos e analisar associação dessas variáveis com a doença. Artigo 2: Descrever o perfil de MAC (medicação anticrise) e tipos de crises e analisar a associação desses perfis com a incidência de complicações maternas e fetais nas MGCE. Artigo 3: Descrever a prevalência, perfil sociodemográfico e clínico, perfil de MAC, tipos de crises e analisar a associação da incidência de complicações maternas e fetais com essas variáveis nas MGCE. Métodos: Artigos 1 e 2: coortes retrospectivas com 234 MGCE e 492 MGSE. Artigo 3 coorte prospectiva coletou dados de 95 MGCE e 380 sem epilepsia (MGSE). Ambas as coortes com idade 40 anos em prontuários e entrevistas em 4 maternidades de alto risco em Alagoas no período de 2008 a 2021 na coorte retrospectiva e 2021 e 2022 na prospectiva. Resultados: A prevalência de MGCE nas coortes retrospectiva e prospectiva foi de 0,49% (n = 224/44917) e 0,53% (n = 105/19.624) com médias de idade (24,94 ± 6,25 e 23,98 ± 6,89); (24,42 ± 5,64 e 24,42 ± 5,62) anos. MGCE procederam da zona rural (58,2%; 64,2%), eram de cor parda (88,6%;98%), (7%; 3,2%) analfabetas e com ensino fundamental (40%; 52,1%), solteiras (47,3%; 49,5%) e (76,9%; 78,9%) donas de casa, respectivamente. Em relação a partos, a maioria (60,3%; 54,8%) eram multíparas, (74,6%; 70,8%) tiveram parto cesáreo, respectivamente. Na coorte prospectiva 15,8% sem renda, 54,7% com menos de 1 salário mínimo, 44,2% eram de religião católica e 87.4% não planejou a gravidez. A análise dos desfechos obstétricos e neonatais mostrou um risco maior nas MGCE para hipertensão relacionada à gravidez (HRG) (OR =6.29; 95% CI =3.50-11.30), pré-eclâmpsia (OR=8.04; 95% CI=2.22-29.10) na coorte retrospectiva, e em ambas coortes um risco de sangramento vaginal (OR=2.54; 95% CI=1.15-5.59);(OR=4.13; 95% CI=1.45-9.11), aborto espontâneo (OR=1.75; 95% CI=1.16-2.63); (OR=1.50; 95% CI=1.00-2.22) e natimorto (OR=11,16; 95% CI=2.22-29.10); (OR=5.27; 95% CI=2.29-10.30). Nas coortes retrospectiva e prospectiva (14%; 14,7%) não usaram MAC, (50,2%; 85,3%) monoterapia (35,8%; 12,6%) politerapia, respectivamente. O fenobarbital foi o MAC mais prescrito seguido pela carbamazepina em ambas coortes. Na prospectiva MGCE que usaram MAC e em politerapia tiveram maior risco de hemorragia vaginal, admissão em UTI materna e natimorto. Analisando os tipos de epilepsia a maioria 40% tinha o tipo generalizada. A respeito do tipo de crise, a maioria 53,3% apresentou crise focal na coorte retrospectiva, enquanto na prospectiva a maioria delas 48,4% teve CTCG e 19% estado de mal epiléptico associados a desfechos obstétricos e neonatais adversos. Conclusão: Ambos os estudos relatam um perfil sociodemográfico da MGCE de alta vulnerabilidade social e alto risco de desfechos obstétricos e neonatais adversos, provavelmente devido à procedência de uma região pobre do Brasil. Foi constatado algumas limitações na distribuição de MACs apropriados para essa população.

Objectives: article 1: To describe the prevalence of epilepsy in pregnant women, sociodemographic profile and obstetric outcomes and analyze the association of these variables with a disease. Article 2: Describe the profile of ASM (anti-crisis medication) and types of seizures and analyze the association of these profiles with the incidence of maternal and fetal complications in pregnat women with epilepsy (PWWE). Article 3: Describe the prevalence, sociodemographic and clinical profile, types of ASM used and seizures and analyze the association of the incidence of maternal and fetal complications with these variables in PWWE. Methods: Articles 1 and 2: retrospective cohorts with 234 PWWE and 492 pregnant women without epilepsy (PWNE). Article 3 prospective cohort collected data from 95 PWWE and 380 PWNE. Both cohorts aged 40 years in medical records and interviews from four high-risk maternity hospitals in Alagoas. The period from 2008 to 2021 in the cohort retrospective and 2021 and 2022 in the prospective. Results of the articles: The prevalence of PWWE in the retrospective and prospective cohorts were 0.49% (n = 224/44917) and 0.53% (n = 105/19,624) with mean ages (24.94 ± 6.25 and 23 .98 ± 6.89); (24.42 ± 5.64 and 24.42 ± 5.62) years, respectively. PWWE came from the countryside (58.2%; 64.2%), had brown skin (88.6%; 98%), illiterate (7%; 3.2%) and had primary education (40%; 52 .1%), single (47.3%; 49.5%) and (76.9%; 78.9%) homemakers, respectively. Regarding deliveries, the most of them (60.3%; 54.8%) were multiparous, (74.6%; 70.8%) had cesarean delivery, respectively. In the prospective cohort, 15.8% had no income, 54.7% earned less than 1 minimum wage, 44.2% were Catholic religious and 87.4% had not planned the pregnancy. Analysis of obstetric and neonatal outcomes showed a higher risk in PWWE for pregnancy-related hypertension (PrH) (OR=6.29; 95% CI=3.50-11.30), preeclampsia OR=8.04; 95% CI=2.22-29.10) in the retrospective cohort, and in the retrospective and prospective cohorts a risk of vaginal bleeding (OR=2.54; 95% CI=1.15-5.59);(OR=4.13; 95% CI=1.45-9.11), miscarriage (OR=1.75; 95% CI=1.16-2.63); (OR=1.50; 95% CI=1.00-2.22) and stillbirth (OR=11.16; 95% CI=2.22-29.10); (OR=5.27; 95% CI=2.29-10.30), respectively. In both cohorts (14%; 14.7%) they did not use MAC, (50.2%; 85.3%) monotherapy (35.8%; 12.6%) polytherapy, respectively. Phenobarbital was the most prescribed ASM followed by carbamazepine in both cohorts. In prospective PWWE who used ASM and polytherapy had a higher risk of vaginal bleeding, maternal ICU admission and stillbirth. Analyzing the types of epilepsy, most of them 40% had the generalized type. Regarding the type of seizure, most 53.3% had focal seizures in the retrospective cohort, while in the prospective cohort, most of them 48.4% had GTCS (tonic-clonic generalized) and 19% had status epilepticus, associated with adverse obstetric and neonatal outcomes. Conclusion: Both studies report a sociodemographic profile of PWWE with high social vulnerability and higher risk of adverse obstetric and neonatal outcomes, probably due to the origin of a poor region of Brazil. Some limitations were found in the distribution of appropriate ASM for this population

Levetiracetam plus Oxcarbazepine Combination Treatment Downregulates Serum Multidrug Resistance Protein 1 Levels and Upregulates Neuropeptide Y Levels in Children with Epilepsy

Abstract The aim of the present study was to investigate the usefulness of multidrug resistance protein 1 (MDR1) and neuropeptide Y (NPY) levels in predicting the efficacy of levetiracetam (LEV) plus oxcarbazepine (OXC) treatment administered to children with epilepsy and to determine their prognosis. Overall, 193 children with epilepsy admitted to the hospital were enrolled and randomly divided into two groups according to different treatment methods: group A (n = 106, treated with LEV plus OXC combination) and group B (n = 87, treated with OXC only). After treatment, compared with group B, group A exhibited a remarkably higher total effective rate and a significantly lower total adverse reaction rate. Areas under the curve for MDR1 and NPY for predicting ineffective treatment were 0.867 and 0.834, whereas those for predicting epilepsy recurrence were 0.916 and 0.829, respectively. Electroencephalography abnormalities, intracranial hemorrhage, neonatal convulsion, premature delivery, and MDR1 and NPY levels were independent risk factors for poor prognosis in children with epilepsy. Serum MDR1 and NPY levels exhibited a high predictive value for early epilepsy diagnosis, treatment efficacy assessment, and prognostication in children with epilepsy treated with LEV plus OXC combination.

The utility of mobile telephone-recorded videos as adjuncts to the diagnosis of seizures and paroxysmal events in children with suspected epileptic seizures

Background. Epilepsy is often diagnosed through clinical description, but inter-observer interpretations can be diverse and misleading. Objective. To assess the utility of smartphone videos in the diagnosis of paediatric epilepsy.Methods. The literature was reviewed for evidence to support the use of smartphone videos, inclusive of advantages, ethical practice and potential disadvantages. An existing adult-based quality of video (QOV) scoring tool was adapted for use in children. A pilot study used convenience sampling of videos from 25 patients, which were reviewed to assess the viability of the adapted QOV tool against the subsequent diagnosis for the patients with videos. The referral mechanism of the videos was reviewed for the source and consent processes followed. Results. A total of 14 studies were identified. Methodologies varied; only three focused on videos of children, and QOV was formally scored in three. Studies found that smartphone videos of good quality assisted the differentiation of epilepsy from non-epileptic events, especially with accompanying history and with more experienced clinicians. The ethics and risks of circulation of smartphone videos were briefly considered in a minority of the reports. The pilot study found that the adapted QOV tool correlated with videos of moderate and high quality and subsequent diagnostic closure.Conclusions. Data relating to the role of smartphone video of events in children is lacking, especially from low- and middle-income settings. Guidelines for caregivers to acquire good-quality videos are not part of routine practice. The ethical implications of transfer of sensitive material have not been adequately addressed for this group. Prospective multicentre studies are needed to formally assess the viability of the adapted QOV tool for paediatric videos.

Physical activity in adults with epilepsy: clinical aspects and relationship with cognition and quality of life / Atividade física em pessoas adultas com epilepsia: aspectos clínicos e as relações com a cognição e a qualidade de vida

ABSTRACT There are several factors associated with lower participation in regular physical activity (PA) in adult patients with epilepsy (PWEs). Objective: To assess the relationship between the regular practice of PA with clinical and cognitive variables and quality of life (QoL) in PWEs. Methods: Habitual Physical Activity Questionnaire (HPAQ) was related to clinical variables, scores on the Mini-Mental State Examination (MMSE), on the Brief Cognitive Battery-Edu (BCB-Edu), on the Satisfaction Scale for Physical Activity (SSPA), and on the Quality of Life in Epilepsy Inventory (QOLIE)-31 in 60 PWEs, with a significance level of p<0.05. Results: The PWEs had a mean age of 42.4±13.6 years, 50% of whom were female. Longer length of epilepsy correlated with lower PA in leisure time (Pearson correlation [r]= -0.276; p-value [p]=0.036). The occupational physical activity scores of the HPAQ correlated positively with perception (r=0.300; p=0.021), memory (r=0.381; p=0.003), semantic verbal fluency test (SVF) (r=0.427; p=0.001), and with the total score in the MMSE (r=0.327; p=0.012). The total HPAQ score correlated with the SVF (r=0.336; p=0.009) and with the MMSE (r=0.254; p=0.049). There was no correlation among the QOLIE-31, the HPAQ, and the SSPA. Conclusions: Longer duration of epilepsy was associated with the lower practice of PA. Physical activity was associated with better performance in aspects of cognition. There was no relationship between QoL and practice and satisfaction with PA, suggesting different psychosocial aspects involved.

RESUMO Existem vários fatores associados à menor participação em atividade física regular (AF) em pacientes adultos com epilepsia (PCE). Objetivo: Avaliar em PCEs a relação entre a prática regular de AF com as variáveis clínicas e cognitivas e com a qualidade de vida (QV). Métodos: Foi relacionado o Habitual Physical Activity Questionnaire (HPAQ) com as variáveis clínicas, escores no Mini-Mental State Examination (MMSE), no Brief Cognitive Battery-Edu (BCB-Edu), Satisfaction Scale for Physical Activity (SSPA) e no Quality of Life in Epilepsy Inventory (QOLIE-31) de 60 PCE, com nível de significância p<0,05. Resultados: Idade média 42,4±13,6 anos, 50% do sexo feminino. O maior tempo de epilepsia correlacionou-se com a menor prática de AF no lazer (Correlação de Person, r= -0,276; p=0,036). Escores da AF ocupacional do HPAQ correlacionaram-se positivamente com a percepção (r=0,300; p=0,021) e a memória (r=0,381; p=0,003) no teste de fluência verbal (SVF); (r=0,427; p=0,001) e com o escore total no MMSE (r=0,327; p=0,012). O escore total do HPAQ correlacionou-se com o SVF (r=0,336; p=0,009) e com o MMSE (r=0,254; p=0,049). Não houve correlação entre o QOLIE-31 com o HPAQ e a SSPA. Conclusão: A maior duração da epilepsia associou-se com a menor prática de AF. A AF associou-se com o melhor desempenho em aspectos da cognição. Não houve relação entre QV com a prática e a satisfação e a AF, sugerindo diferentes aspectos psicossociais envolvidos.

Simultaneous Estimation and Validation of Four Antiepileptic Drugs from Bulk and Formulations Using Reverse Phase HPLC

Abstract Epilepsy is a disorder of the central nervous system, in which the nerve cell activity in the brain is disturbed causing seizures. The objective was to develop an RP-HPLC method for consistent simultaneous quantitation of four antiepileptic drugs Levetiracetam (LVT), Lamotrigine (LTG), Phenobarbital (PBT) and Phenytoin (PTY). An isocratic method was developed on C18 column in JASCO HPLC using 5 mM potassium phosphate buffer (pH 6) and acetonitrile as the mobile phase at a flow rate of 1ml/min and detected at 230 nm using UV detector. The mean retention time for LVT, LTG, PBT and PTY were found as 2.55, 3.55, 4.65 and 5.99 minutes respectively. The method was validated as per ICH guidelines and was found to be acceptable. The %RSD value was <2.0 % thus stating the developed method was precise for the drugs in the given range. The accuracy values were within 85-115% of the recovery range. The specificity of the method was evaluated by an assay of marketed formulation, and it showed a percent content between 90-110% w/w for all the four drugs. The proposed analytical method was simple, accurate and robust and was precisely able to resolve the four major antiepileptic drugs. Hence, the current method can be applied successfully for routine examination of these drugs