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Copyright of Arquivos Brasileiros de Oftalmologia is the property of Arquivos Brasileiros de Oftalmologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Medicina (Buenos Aires) is the property of Medicina (Buenos Aires) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Medicina (Buenos Aires) is the property of Medicina (Buenos Aires) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Medicina (Buenos Aires) is the property of Medicina (Buenos Aires) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Medicina (Buenos Aires) is the property of Medicina (Buenos Aires) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

OBJECTIVE: To characterize patients with infective endocarditis and ischemic stroke. PATIENTS AND METHODS: An observational, descriptive study was carried out, including patients over 18 years of age treated at the San Rafael Hospital, Tunja, Colombia, from January 2010 to January 2019 with a confirmed diagnosis of infective endocarditis. The dependent variable was the presence of ischemic stroke, while the independent variables were sociodemographic data (age, sex and comorbidities), test data (blood count, acute phase reactants, electrolytes, liver and kidney function) and imaging data. RESULTS: There were included 87 patients with confirmed diagnosis of infective endocarditis. The prevalence of stroke was 33.7%. The variables urban residence, diabetes mellitus, cardiac arrhythmias and epilepsy increased the probability that a patient with bacterial endocarditis would suffer an ischemic stroke. CONCLUSIONS: The history of diabetes, epilepsy, cardiac arrhythmias, and urban residence are correlated to the presence of ischemic stroke in this population. Most of these events occurr in people under 35 years of age, unlike other populations worldwide, which makes it pertinent to suspect infective endocarditis in young patients who present with cerebrovascular accidents. [ABSTRACT FROM AUTHOR]

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

La displasia septo-óptica es una afección neurológica congénita de etiología multifactorial caracterizada por agenesia del septum pellucidum, disgenesia del cuerpo calloso o ambas, hipoplasia del quiasma o nervios ópticos y disfunción hormonal con alteraciones hipofisiarias o hipotalámicas. Para hacer el diagnóstico se requieren dos de estos criterios y la resonancia magnética es el examen de elección. La mayoría de los casos se presentan con anomalías del desarrollo cortical en la forma conocida como displasia septo-óptica plus. Si bien las convulsiones y los trastornos del neurodesarrollo son las manifestaciones neurológicas dominantes, es una entidad muy heterogénea con múltiples hallazgos clínicos y radiológicos que se deben considerar. Se presenta el caso de un hombre de 35 años con antecedentes de traumatismo craneoencefálico en la infancia y remisión por epilepsia focal resistente al tratamiento asociada con déficit cognitivo. En la evaluación inicial, la tomografía computarizada de cráneo simple se apreció agenesia del septum pellucidum y disgenesia del cuerpo calloso. Se practicó una resonancia magnética cerebral que confirmó la agenesia del septum pellucidum y, también, reveló irregularidad y engrosamiento anómalo de la corteza cerebral en los lóbulos frontales y la región perisilviana; además, se encontró sustancia gris heterotópica en los lóbulos frontales y la región frontoinsular izquierda, leve ventriculomegalia supratentorial, apariencia atípica del rostrum del cuerpo calloso e hipoplasia del quiasma y los nervios ópticos. Aunque la agenesia del septum pellucidum fue la clave en este caso, no es un hallazgo presente en todos los pacientes.

Background Within the general epilepsy population, the incidence of Sudden Unexpected Death in Epilepsy (SUDEP) ranges from approximately 0.35 to 2.3 per 1,000 individuals per year.

Background Hypoxic-ischemic encephalopathy (HIE) affects 1.5 newborns per 1 thousand term live births. Therapeutic hypothermia (TH) does not prevent all adverse outcomes. The experience with TH is still limited in Latin America. In Rio de Janeiro, Hospital Universitário Pedro Ernesto treats neonates with HIE since 2017 using the servo-controlled system.

Hysteria, previously also known as the disease of the womb, has moved from being a woman's illness through the medieval times' stigma of demonic possession, to the modern concept of a functional neurological disorder. Interestingly to the present assay, Charcot (1825–1893) and Richer (1849–1933) described, in their 1887 work Les Démoniaques dans l'art, by means of iconography, semiological aspects of the so-called Grande Attaque Hystérique, which resembles features of psychogenic nonepileptic seizures emulating grand mal epileptic seizures. The aim of the present assay is to describe how those charcoal iconographic representations evolved through history and are nowadays portrayed in videos recorded at epilepsy monitoring units and patients' cell phones.

Copyright of Biomédica: Revista del Instituto Nacional de Salud is the property of Instituto Nacional de Salud of Colombia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background The Basic Health Unit (Unidade Básica de Saúde – UBS, in Portuguese) is the first point of contact in the public healthcare system for people with epilepsy. Primary care professionals need to appropriately diagnose, treat, and refer, if necessary, to tertiary services.

The treatment of epilepsy has advanced over the past 30 years through the development of new antiseizure medications (ASMs). Unfortunately, not all of them have been approved yet in Brazil, and many are still underused. When comparing new ASMs to older ones, they are generally not more effective in treating epilepsy. However, they offer better tolerability, with fewer interactions and long-term side effects, especially for patients with comorbidities or those requiring polytherapy. Enzyme induction caused by older ASMs is associated with increased cholesterol levels, drug interactions with decreased effects of statins and other cardiovascular medications, anticoagulants, chemotherapy, immunosuppressors, anti-infective agents (including HIV treatment), antidepressants, and contraceptives. Additionally, they can reduce levels of vitamin D and sex hormones, as well as decrease bone density. The increasing concern about these effects during life, especially after prolonged exposure, has led most developed countries to change prescription patterns in favor of new ASMs, particularly levetiracetam and lamotrigine. Both are also considered the safest options for women of childbearing age. Regrettably, the prescription trends in Brazil have remained largely unchanged over time. This can be partially attributed to the slower approval process of ASM and the reluctance of general physicians and neurologists to embrace these new concepts. In this concise review, we highlight the various advantages linked to the new ASM, aiming to promote a shift in the prescription pattern for ASM. The selection of ASM should be customized according to individual characteristics, and practical suggestions for choosing ASMs are provided in this paper.

Epilepsy is the chronic non-communicable disease of the nervous system most prevalent in the world. Valproic acid (VPA) is one of the most used drugs in the treatment of epilepsy but with various side effects. One of the organs that can be affected is the testis, where it has been seen that men treated with VPA reduce their fertility rates, in addition to causing endocrine disorders by decreasing androgens and gonadotropins. In animal models, it has been shown to reduce the weights of the glands attached to the male reproductive tract, as well as at the testicular level, decreasing sperm concentration and increasing apoptotic cell count. These effects are because VPA increases reactive oxygen species (ROS), causing damage to macromolecules and affecting all cellular processes sensitive to oxide reduction. Throughout testicular development, in utero, it has been seen that the expression of antioxidant enzymes such as superoxide dismutase, catalase and glutathione peroxidase, are lower during early embryonic development, as well as vitamin E (VE) is decreased. Therefore, they are not sufficient to reverse the toxic effects of ROS. The objective of this study was to review the use of VPA during pregnancy, its effect on testicular development, and to explore the potential protective role of vitamin E. [ABSTRACT FROM AUTHOR]

Copyright of Enfermagem Brasil is the property of Atlantica Editora and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Epilepsia partialis continua (EPC) without intracranial abnormalities is a rare presentation in patients with human immunodeficiency virus (HIV) infection. In our case report, the patient presented with left-sided clonic-myoclonic seizures that were resistant to initial anti-seizure treatment. This condition is classified as EPC. Lesions that could be linked to episodes of EPC were not evident on magnetic resonance imaging. Electroencephalography showed right-sided centroparietal epileptiform activity. After blood testing, the patient was diagnosed with HIV. Dual antiseizure medications were administered, leading to seizure cessation after three days.

Background Neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessive, inherited, lysosomal, and neurodegenerative diseases that causes progressive dementia, seizures, movement disorders, language delay/regression, progressive visual failure, and early death. Neuronal ceroid lipofuscinosis type 2 (CLN2), caused by biallelic pathogenic variants of the TPP1 gene, is the only NCL with an approved targeted therapy. The laboratory diagnosis of CLN2 is established through highly specific tests, leading to diagnostic delays and eventually hampering the provision of specific treatment for patients with CLN2. Epilepsy is a common and clinically-identifiable feature among NCLs, and seizure onset is the main driver for families to seek medical care.

Introduction: Children with epilepsy present greater prevalence of sleep disorders than the general population. Their diagnosis is essential, since epilepsy and sleep disorders have a bidirectional relationship. Objective: Determine the incidence of sleep disorders and poor sleep habits in children with epilepsy. Methods: We conducted a cross-sectional study of patients under 18 years of age with epilepsy, assessing sleep disorders using the Spanish-language version of the Sleep Disturbance Scale for Children (SDSC), and sleep habits using an original questionnaire. Results: The sample included 153 patients. Eighty-four percent of our sample presented some type of sleep alteration. The most frequent alterations were sleep-wake transition disorders (53%), sleep initiation and maintenance disorders (47.7%), and daytime sleepiness (44.4%). In 70% of cases, the patients’ parents reported that their child “slept well,” although sleep disorders were detected in up to 75.7% of these patients. Many patients had poor sleep habits, such as using electronic devices in bed (16.3%), requiring the presence of a family member to fall asleep (39%), or co-sleeping or sharing a room (23.5% and 30.5%, respectively). Those with generalised epilepsy, refractory epilepsy, nocturnal seizures, and intellectual disability were more likely to present sleep disorders. In contrast, poor sleep habits were frequent regardless of seizure characteristics. Conclusions: Sleep disorders and poor sleep habits are common in children with epilepsy. Their treatment can lead to an improvement in the quality of life of the patient and his/her family, as well as an improvement in the prognosis of epilepsy. Resumen: Introducción: Los niños con epilepsia tienen más trastornos del sueño (TS) que la población sana. Es fundamental su diagnóstico, ya que la epilepsia y los TS tienen una relación bidireccional. Objetivo: Determinar la incidencia de TS y malos hábitos de sueño en niños con epilepsia. Método: Estudio transversal de pacientes menores de 18 años con epilepsia sobre TS, mediante la versión española de Sleep Disturbance Scale for Children (SDSC), y sobre hábitos de sueño, mediante cuestionario de elaboración propia. Resultados: La muestra incluyó 153 pacientes. El 84% de la población estudiada presentaba alterado algún aspecto del sueño. Lo más frecuente fueron las alteraciones en la transición sueño-vigilia (53%), en el inicio-mantenimiento del sueño (47.7%) y la somnolencia diurna (44.4%). Un 70% de los padres de los pacientes referían que su hijo “dormía bien”, pero en este grupo se detectaron TS hasta en el 75.7%. Muchos de los pacientes tenían hábitos de sueño poco saludables, como dormirse con dispositivos electrónicos (16.3%), precisar presencia familiar para dormirse (39%) o dormir en colecho o cohabitación (23,5% y 30,5% respectivamente). Aquellos con epilepsias generalizadas, refractarias, crisis nocturnas y discapacidad intelectual presentaron mayor probabilidad de presentar TS. En cambio, los malos hábitos de sueño fueron frecuentes independientemente de las características de la epilepsia. Conclusiones: Los TS y los malos hábitos de sueño son frecuentes en niños con epilepsia. Su tratamiento puede conllevar una mejoría en la calidad de vida del paciente y su familia, así como una mejoría en el pronóstico de la epilepsia.

Background: Epilepsy affects from 0.5 to 1% of children worldwide and has a cognitive impact on the patient. Objective: To assess cognitive characteristics in pediatric patients diagnosed with epilepsy. Material and methods: Analytical, cross-sectional study of patients with epilepsy aged 6 to 16 years in a tertiary hospital in Puebla, Mexico. Type of epilepsy, evolution, treatment, and school performance were evaluated. The Wechsler Intelligence Scale IV was used for cognitive characteristics. Mann-Whitney U and phi coefficients were used. It was considered statistically significant a p < 0.05. Results: 95 patients were included, 61.1% were male. Mean: age 11.16 years (± 2.5), school performance 7.8 (± 0.99), time of development: 2.4 years (± 1.4). They were schoolchildren aged 6-11 years (36.8%) and adolescents aged 12-16 years (63.2%); 79% had generalized epilepsy; 93.6% were treated with monotherapy (47.3% with magnesium valproate). The mean intellectual quotient was 90.3 (± 10.02), decreased in 12 patients (12.6%). Working memory was the most commonly affected domain (31.6%), mostly in adolescents with 40% (p = 0.021). Perceptual reasoning and working memory were significantly correlated with developmental time (phi = 0.17, p = 0.04 and phi = 0.49, p < 0.001, respectively). Conclusions: Working memory was the most affected cognitive characteristic, especially in adolescents. Working memory and perceptual reasoning were affected by time of development. [ABSTRACT FROM AUTHOR]

Copyright of Ingeniería (0121-750X) is the property of Ingenieria and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction and objective: The main causes of vertigo in childhood are benign and have a favorable prognosis, the most prevalent being recurrent vertigo of childhood and vestibular migraine [1]. Less frequent are the central causes of vertigo, but most of them are associated with serious and lifethreatening disorders, hence the importance of making an early diagnosis and thus being able to start a specific treatment for each pathology. Method: A narrative review of the literature in the Pubmed, Dialnet and SciELO databases of articles published on causes of central vertigo in childhood in the last 15 years has been carried out. Conclusions: The structural core causes of vertigo in childhood are varied and rare. They are characterized by associating the vestibular clinic with other central neurological symptoms and headache. the seriousness of some of them, it is necessary to make an early diagnosis through imaging tests, mainly MRI, and start a specific treatment as soon as possible. [ABSTRACT FROM AUTHOR]

Copyright of Kranion is the property of Publicidad Permanyer SLU and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Acta Neurológica Colombiana is the property of Colombian Association of Neurology / Asociacion Colombiana de Neurologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: Miller-Dieker syndrome has an autosomal dominant pattern of inheritance and belongs to the group of neuronal migration disorders. It is characterized by the presence of type 1 lissencephaly, global development delay, microcephaly, epilepsy and facial dysmorphisms caused by mutations in chromosome 17p13. Miller-Dieker syndrome is an extremely rare disease with a prevalence of 1 case per 100,000 live births. Case presentation: We present two cases of Miller-Dieker syndrome in which data from the physical examination and questioning were clues that allowed a strong diagnostic suspicion and that, in turn, the definitive diagnosis by means of FISH allowed us to provide adequate management in order to improve the long-term prognosis. Conclusion: A high diagnostic suspicion must be achieved through physical examination aimed at identifying alterations in patients with difficult-to-control epilepsy, since it allows guiding the etiological diagnosis and thereby providing adequate treatment. [ABSTRACT FROM AUTHOR]

Epilepsia partialis continua (EPC) without intracranial abnormalities is a rare presentation in patients with human immunodeficiency virus (HIV) infection. In our case report, the patient presented with left-sided clonic-myoclonic seizures that were resistant to initial anti-seizure treatment. This condition is classified as EPC. Lesions that could be linked to episodes of EPC were not evident on magnetic resonance imaging. Electroencephalography showed right-sided centroparietal epileptiform activity. After blood testing, the patient was diagnosed with HIV. Dual antiseizure medications were administered, leading to seizure cessation after three days. [ABSTRACT FROM AUTHOR]

Este artigo revisita momento crucial da longa história da relação crime e epilepsia. O objetivo é mostrar, inicialmente, como nas décadas de 1920 e 1930, a psiquiatria forense praticada no Rio de Janeiro realizou esforços para manter o tema sob seus domínios. Daí a elaboração de um constructo diagnóstico novo e original na psicopatologia forense brasileira, a “epilepsia emotiva”, categoria clínica que condensou expectativas fundamentais acerca da masculinidade, sendo criada na injunção do paradigma constitucionalista. Em seguida, buscamos mostrar como a questão do “crime epilético” produziu, neste contexto, intensas controvérsias e estratégias, tanto no âmbito da Justiça Penal, quanto internamente ao discurso psicopatológico. Para tanto, focalizamos, a partir de documentação diversificada – laudo psiquiátrico, decisões judiciais, debates no Conselho Penitenciário, textos médicos, memórias –, um caso de “crime epilético” consagrado na história penal da cidade

Introducción: el estatus epiléptico refractario (EER) constituye una emergencia médica grave, donde la crisis convulsiva no cede a pesar del tratamiento farmacológico convencional. Se describe como estatus epiléptico superrefractario (EESR) la continua presencia de episodios con una duración de 24 horas o más. Este reporte de caso detalla la complejidad en el manejo y explora un enfoque multidisciplinario. Presentación del caso: paciente masculino de 32 años con antecedente de epilepsia focal secundaria a traumatismo craneoencefálico en la niñez, quien ingresó en contexto de EER, el cual se administró con coma barbitúrico, plasmaféresis y dieta cetogénica. En los exámenes, la resonancia magnética reveló una lesión en la región frontotemporal insular derecha; en la tomografía por emisión de positrones se observaron zonas de hipermetabolismo y en el videoelectroencefalograma una continua actividad epileptiforme. Se optó por la cirugía paliativa, logrando la resolución exitosa del EESR y una clasificación Engels IA a los 14 meses. Discusión: el EESR es un evento neurológico crítico con pronóstico reservado y opciones terapéuticas desafiantes. Se describen opciones terapéuticas desde anticonvulsivantes, inmunoterapia y cirugía, donde el abordaje quirúrgico emerge como una opción eficaz, especialmente en casos con lesiones estructurales. La identificación temprana y la terapia adecuada son vitales para prevenir complicaciones. Conclusiones: el EESR representa un desafío crítico con alta carga de morbimortalidad, sin embargo, la cirugía de epilepsia muestra promisorios resultados en el contexto de causa cerebral estructural, responsable de la actividad epileptiforme. Se destaca la importancia de la identificación temprana y el manejo quirúrgico paliativo como opción viable, mejorando la calidad de vida de los pacientes.

Background Patients with epilepsy (PWE) frequently have comorbid psychiatric disorders, the most common of which are depression and anxiety. Attention deficit disorder with hyperactivity (ADHD) is also more frequent among PWE, though that condition has been scarcely studied among the adult PWE population.

Long-term epilepsy-associated tumors (LEATs) include a series of neoplasms that commonly occur in children, adolescents, or young adults, have an astrocytic or glioneuronal lineage, are histologically benign (WHO grade1) with a neocortical localization predominantly situated in the temporal lobes. Clinically, chronic refractory epilepsy is usually the unique symptom. Gangliogliomas (GG) and dysembryoplastic neuroepithelial tumors (DNT) are the most common representative entities besides pilocytic astrocytomas (PA) and angiocentric gliomas (AG). Recent molecular studies have defined new clinicopathological entities, which are recognized by the WHO 2021 classification of brain tumors. Some of them such as diffuse astrocytoma MIB or MYBL1 altered, polymorphous low-grade neuroepithelial tumor of the young (PLNTY), and multilocular and vacuolating neuronal tumor (MVNT) are currently considered LEATs. The relationship between LEATs and epilepsy is still a matter of debate, and there is a general agreement about the beneficial effects of an early neurosurgical intervention on the clinical outcome.

Purpose: The association between antidepressant use and the risk of seizures remains controversial. Therefore, this meta-analysis examined whether antidepressant use affects the risk of seizures. Methods: To identify relevant observational studies, we conducted systematic searches in PubMed and Embase of studies published through May 2023. Random-effects models were used to estimate overall relative risk. Results: Our meta-analysis included eight studies involving 1,709,878 individuals. Our results showed that selective serotonin reuptake inhibitors (SSRI) (odds ratio [OR] 1.48, 95% confidence interval [CI] 1.32–1.66; P < 0.001) and selective noradrenalin reuptake inhibitors (SNRI) (OR 1.65, 95% CI 1.24–2.19; P = 0.001), but not tricyclic antidepressants (TCA) (OR 1.27, 95% CI 0.84–1.92; P = 0.249), were associated with an increased risk of seizures. Subgroup analyses revealed an OR of 2.35 (95% CI 1.7, 3.24; P < 0.001) among short-term (< 30 days) antidepressant users. Conclusions: The findings of this meta-analysis support an increased risk of seizures in new-generation antidepressant users, expanding previous knowledge by demonstrating a more pronounced risk in short-term users. [ABSTRACT FROM AUTHOR]

This paper provides a lexicographical and terminological study of the various names that epilepsy disease has received throughout the history of the Spanish language. Among other particularities, we analyse the etymology and lexicogenetic mechanisms, diachronic and diaphasic restrictions, as well as the documentation for more than thirty lexical units consigned in the medical terminological dictionaries of the 19th century. [ABSTRACT FROM AUTHOR]

Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Folia Pharmaceutica Cassoviensia is the property of University of Veterinary Medicine & Pharmacy in Kosice and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objetivo: delinear as variações do espectro fenotípico dos distúrbios por mutações no gene SYNGAP1 para caracterizar as manifestações clínicas e comportamentais existentes. Materiais e Métodos: trata-se de uma Revisão Integrativa da literatura desenvolvida com busca avançada nas bases de dados PubMed, Biblioteca Virtual em Saúde (BVS) e Scientific Electronic Library Online (SciELO), por meio dos descritores: “SYNGAP1” AND “Neurodevelopmental Disorders” AND “Intellectual Disability” AND “Epilepsy” e seus respectivos correspondentes em português. Foram incluídos artigos que atenderam ao tema, sem restrição de tempo, selecionando-os pela análise dos títulos, resumos e leitura na íntegra. Resultados: foram selecionados 17 de 34 artigos, publicados entre 2011 e 2023, com localidade americana, europeia e asiática, mas nenhuma em território brasileiro. A maioria dos artigos analisou crianças e apenas um abordou, em sua amostra, paciente adulto. As principais manifestações observadas foram epilepsia, déficit intelectual, Transtorno do Espectro Autista, alterações locomotoras, anormalidades do sono, respostas cerebrais alteradas, comprometimento auditivo e aspectos físicos com semelhanças compartilhadas. Conclusão: mutações no gene SYNGAP1 geram um abrangente espectro clínico com estudos ainda limitados, apesar disso, verifica-se a prevalência da encefalopatia epiléptica, Transtorno do Espectro Autista e deficiência intelectual na maioria dos casos.

Digitaaliset palvelut ovat mahdollistaneet hyvinvointitietojen tuottamisen ja ajantasaisen seurannan sekä lisännyt kansalaisen ja terveydenhuollon vuorovaikutusta hoitoprosessin aikana. Tämän tutkimuksen tarkoituksena oli kuvata epilepsiaa sairastavien kokemuksia digitaalisten palveluiden käytöstä ja selvittää millaiset kehitystoimet lisäävät kansalaisen osallistamista digitaalisten palveluiden hyödyntämisessä. Tutkimus toteutettiin kolmena fokusryhmähaastatteluna epilepsiaa sairastaville henkilöille (N=8) joulukuun 2022 ja maaliskuun 2023 välisenä aikana. Haastattelut tallennettiin ja aineisto litteroitiin tietoturvallisen käytänteen mukaisesti. Litteroidut aineistot analysoitiin induktiivisella sisällönanalyysillä hyödyntäen Atlas.ti ohjelmaa. Tulosten mukaan epilepsiaa sairastavat kokivat palvelut pääsääntöisesti helppokäyttöisinä. Omien hyvinvointitietojen tuottaminen ja välittäminen terveydenhuollon ammattilaisille koettiin tärkeäksi, sillä niiden nähtiin edistävän hyvinvointia ja parantavan hoidon tehokkuutta ja laatua. Terveydenhuollon henkilöstölle välitettiin hyvinvointitietoa esitietolomakkeiden ja oirepäiväkirjojen avulla, kun taas vuorovaikutusta toteutettiin pääosin viestien muodossa. Reseptien uusintapyynnöistä Kanta -palvelun kautta näytti tulleen vakiintunut käytäntö. Lisäksi Kanta -palvelun Omatietovarantoon tallennettiin toisinaan hyvinvointilaitteiden, kuten älykellojen ja sormusten kautta saatavaa tietoa. Terveydenhuollon organisaatioiden tarjoamissa digitaalisissa palveluissa havaittiin eroavaisuuksia. Haastateltavat kokivat, että omien hyvinvointitietojen hyödyntäminen vastaanottokäynnillä tuo lisäarvoa potilaan kokonaisvaltaisen hyvinvoinnin ja hoidon seurannassa. Terveydenhuollon ammattilaiset hyödyntävät kuitenkin digitaalisia palveluita eritasoisesti, jonka vuoksi saatavilla oleva tieto saattoi jäädä hyödyntämättä. Digitaalisten palveluiden käytettävyyden kehitystarpeina haastateltavat kokivat kirjautumisen ja tiedon kirjaamisen sujuvoittamisen. Lisäksi saatavuuden parantamiseksi tarjolla tulisi olla yksi digitaaliset palvelut kattava asiointikanava.

Objetivos: Determinar las características clínicas y asociación EEG en la migraña infantil. Material y métodos: Estudio observacional y análitico, se seleccionaron 52 pacientes de 4-14 años de edad, con criterios diagnósticos de migraña infantil (ICHD-II) durante el 2010; se realizó a todos EEG de superficie, con foto-estimulación (FE) e hiperventilación (HV), durante el periodo interictal. Para el análisis estadístico se utilizó el χ2. Resultados: La edad promedio fue de 10,1 años, el 53,8% fueron varones, el 32,7% fueron cefaleas pulsátiles, nauseas-vómitos en 26,9%, foto-sonofobia en 11,5%, y auras visuales en 3,8%. En las alteraciones EEG hubo: lentificación difusa en 13,5%, brotes de ondas theta-delta a la FE/HV en 34,6%, y descargas interictales (DEI) en 19,2%. La asociación electro-clínica fue significativa en la población de 4-9 años reactiva a la FE (p=0,005), los brotes theta-delta reactivos a la HV en el sexo masculino (p=0,03), y las DEI prevalentes en el sexo femenino (p=0,046). Conclusión: La asociación electro-clínica fue significativa a la FE e HV en la población de 4-9 años y en el sexo masculino respectivamente, siendo las DEI predominantes en el sexo femenino.

En los estudios de carga global de mortalidad de las enfermedades se establece que las enfermedades neurológicas son la segunda causa de muerte a nivel mundial y la primera causa de discapacidad, de años de vida ajustados por discapacidad (AVAD), así como de pérdida de años de vida ajustados por calidad (AVAC). En general, las enfermedades neurológicas son crónicas y dependen de un régimen continuo de tratamiento con el fin de evitar recaídas, por lo que, el desabastecimiento de medicamentos en Colombia, aunque no es un fenómeno reciente, sí se ha acentuado notablemente desde la pandemia de COVID-19, con repercusión directa en los pacientes y en los costos directos para el sistema de salud. Entre agosto y septiembre del 2022, se organizaron mesas de trabajo con múltiples asociaciones médico científicas, la Superintendencia Nacional de Salud y el Instituto Nacional de Vigilancia de Medicamentos y Alimentos (Invima), en las cuales se revelaron que las posibles causas del desabastecimiento serían: el incremento en la demanda; las restricciones por los fabricantes en los contratos con las entidades promotoras de salud (EPS) y los gestores de salud; los retrasos en las entregas de pedidos; los procedimientos pendientes en el Invima; los problemas en la adquisición de materias primas y la disminución del interés de la industria en comercializar productos de baja rentabilidad.

Tuberculosis (TB) is a chronic granulomatous disease caused by Mycobacterium tuberculosis, with extrapulmonary manifestations occurring in approximately 1% of cases. Among these, central nervous system involvement, including intracranial tuberculomas, is rare. We present the case of a 13-year-old female from Borama, Somalia, admitted with abnormal lip movements and a complex medical history, including weight loss, recurrent urinary tract infections, and a familial predisposition to TB. Neurological examination revealed left-sided facial deviation and hyperreflexia, prompting investigations that confirmed left temporal epilepsy and a right-sided tuberculoma. Treatment with levetiracetam and anti-TB medication led to significant improvement. This case underscores the importance of considering tuberculomas in the differential diagnosis of neurological presentations, even in non-HIV patients, especially in resource-limited settings like Africa. Resumen: La tuberculosis (TB) es una enfermedad granulomatosa crónica causada por Mycobacterium tuberculosis, con manifestaciones extrapulmonares en aproximadamente el 1% de los casos. Entre éstas, la afectación del sistema nervioso central (SNC), incluidos los tuberculomas intracraneales, es poco frecuente. Presentamos el caso de una niña de 13 años de Borama, Somalia, que ingresó con movimientos labiales anormales y una historia clínica compleja, que incluía pérdida de peso, infecciones urinarias recurrentes y una predisposición familiar a la tuberculosis. La exploración neurológica reveló desviación facial izquierda e hiperreflexia, por lo que se realizaron pruebas que confirmaron epilepsia temporal izquierda y un tuberculoma derecho. El tratamiento con levetiracetam y medicación antituberculosa condujo a una mejoría significativa. Este caso subraya la importancia de considerar los tuberculomas en el diagnóstico diferencial de las presentaciones neurológicas, incluso en pacientes sin VIH, especialmente en entornos con recursos limitados como África.

Introduction: The transition from paediatric to adult neurology consultations in patients with epilepsy must be understood as a process in which the patient acquires independence in the management of their disease and faces new issues related to adulthood. The aim of this study is to gather the opinion of experts in epilepsy on this transition in order to issue recommendations. Methods: Using a Delphi consensus process, 54 paediatric and adult neurologists with expertise in epilepsy expressed their degree of agreement on 38 statements on about the transition from paediatric to adult consultations, grouped into the following sections: (1) preparation and moments prior to transition; (2) transition process; and (3) moments after the transition and follow-up. Results: After 2 rounds, consensus was reached for 33 statements (86.8%). For the remaining 5 statements (13.2%), there was neither agreement nor disagreement. Among the subjects for which consensus was strongest was the involvement of the patient and family, who must be provided sufficient information to resolve their doubts and concerns. Before referral, the clinical report must be reviewed to ensure that it contains all relevant information on the disease. During the first follow-up visits after the transition, the patient's knowledge should be brought up to date in order to promote their autonomy. Conclusion: The clinical report, early preparation, and complete case review are considered fundamental in the process of transition from paediatric to adult neurology care. Resumen: Introducción: La transición desde neuropediatría a las consultas de neurología para adultos en pacientes con epilepsia ha de entenderse como un proceso en el que el paciente adquiere una independencia en el manejo de la enfermedad y afronta nuevos aspectos relacionados con la edad adulta. El objetivo de este estudio es conocer la opinión de expertos en epilepsia sobre esta transición para poder ofrecer recomendaciones. Métodos: Mediante un consenso Delphi, 54 neuropediatras y neurólogos expertos en epilepsia mostraron su grado de acuerdo en 38 aseveraciones sobre la transición de pediatría a la consulta de adultos agrupadas en los siguientes bloques: 1) preparación y momento previo a la transición; 2) durante la transición; y 3) momento posterior a la transición y seguimiento. Resultados: Tras dos rondas, se alcanzó un consenso en el acuerdo en 33 aseveraciones (86,8%). En las 5 aseveraciones restantes (13,2%) no hubo ni acuerdo ni desacuerdo. Entre los acuerdos más importantes destaca la implicación del paciente y la familia a los que es necesario aportar información suficiente para disipar sus dudas y miedos. Antes de la derivación, se ha de comprobar que el informe clínico contiene toda la información relevante de la enfermedad. Durante las primeras visitas de seguimiento tras la transición, se han de actualizar los conocimientos de los pacientes para lograr su autonomía. Conclusión: El informe clínico, la preparación anticipada y la revisión completa del caso se consideran fundamentales en el proceso de transición de pediatría a la consulta de adultos.

Foundation: the generalized anxiety disorder scale is useful to evaluate this psychiatric condition in patients with epilepsy; however, it has not been adapted linguistically or culturally for patients with this disease in the Cuban context.Objective: linguistically and culturally adapt the generalized anxiety disorder scale for patients with epilepsy in the Cuban context. Methods: I+D+i technological development work, carried out in three stages: linguistic and cultural adaptation, evaluation by criteria of experts on the subject and trial in patients with epilepsy. Qualitative and quantitative techniques were combined: consultation with linguists and experts, trial, debriefing, Cronbach's alpha (α) and item elimination analysis.Results: the linguists proposed minimal semantic changes to two items of the scale. The debriefing showed that the scale can be administered in less than five minutes, with appropriate and harmless items. The α = 0.83 of the trial showed good reliability of the test. It was not necessary to eliminate any items from the scale and the item-total correlations remained above the minimum level (>0.300).Conclusions: the semantic and cultural adaptation of the scale to Spanish, as spoken in Cuba, preserves equivalence with the original version. It is recommended to verify the reliability and validity of the GAD-7 scale in a representative of patients with epilepsy in the Cuban context.

Background The perception of family support in chronic disease can be relevant.

Introduction: This study aimed to determine whether the administration of antiepileptic drugs (AED) alters the likelihood of detecting epileptiform abnormalities in electroencephalographies (EEG) performed early after a first epileptic seizure. Methods: We performed a retrospective, observational study including patients with a first seizure attended at our centre’s emergency department between July 2014 and November 2019. We collected clinical data, as well as technical data on the acquisition and interpretation of the EEG performed within the first 72 hours after the seizure, and the factors related with seizure recurrence. Results: We recruited 155 patients with a mean (SD) age of 48.6 (22.5) years; 61.3% were men. Regarding seizure type, 51% presented tonic-clonic seizures of unknown onset and 12% presented focal to bilateral tonic-clonic seizures. Thirty-nine patients (25.2%) received AED treatment before the EEG was performed: 33 received a non-benzodiazepine AED and 6 received a benzodiazepine. Epileptiform abnormalities were observed in 29.7% of patients. Previous administration of AEDs was not significantly associated with the probability of detecting interictal epileptiform abnormalities (P = .25) or with the risk of recurrence within 6 months (P = .63). Conclusions: Administration of AEDs before an early EEG following a first seizure does not decrease the likelihood of detecting epileptiform abnormalities. These findings suggest that starting AED treatment immediately in patients with a high risk of early recurrence does not imply a reduction in the diagnostic accuracy of the test. Resumen: Introducción: Determinar si la administración de fármacos antiepilépticos (FAE) puede alterar la probabilidad de encontrar anomalías epileptiformes en EEG realizados de forma precoz tras una primera crisis epiléptica (CE). Método: Estudio observacional retrospectivo en el que se incluyeron los pacientes atendidos en urgencias de nuestro centro por una primera CE entre julio de 2014 y noviembre de 2019. Se recogieron los datos clínicos, las características técnicas de adquisición e interpretación de los EEG efectuados durante las primeras 72 horas tras la CE y los factores relacionados con la recurrencia. Resultados: Se recogieron 155 pacientes; edad media 48,6 ± 22,5 años; 61,3% hombres. El 51% presentaron crisis tónico-clónicas (TC) de inicio desconocido y el 12 % focales con progresión a tónico-clónica bilateral. El 25,2% (39/155) recibieron tratamiento con FAE antes de la realización del EEG; en 33 pacientes se administró un FAE no benzodiacepínico y en 6 una benzodiacepina. Se observaron anomalías epileptiformes en 29,7% de los pacientes. La administración previa de FAE no se asoció de forma significativa ni con la probabilidad de detectar anomalías epileptiformes (p = 0,25) ni con el riesgo de recurrencia a los 6 meses (p = 0,63). Conclusiones: La administración de un FAE previo a la realización del EEG precoz tras una primera CE no disminuye la probabilidad de detectar anomalías epileptiformes. Estos hallazgos sugieren que iniciar un FAE de forma inmediata en aquellos pacientes con alto riesgo de recurrencia precoz no implica un menor rendimiento diagnóstico de dicha prueba.

The present review attempts to discuss how some of the central concepts from the Lurian corpus of theories are relevant to the modern neuropsychology of epilepsy and epilepsy surgery. Through the lenses of the main Lurian concepts (such as the qualitative syndrome analysis), we discuss the barriers to clinical reasoning imposed by quadrant-based views of the brain, or even atheoretical, statistically-based and data-driven approaches. We further advice towards a systemic view inspired by Luria's clinical work and theorizing, given their importance towards our clinical practice, by contrasting it to the modular views when appropriate. Luria provided theory-guided methods of assessment and rehabilitation of higher cortical functions. Although his work did not specifically address epilepsy, his theory and clinical approaches actually apply to the whole neuropathology spectrum and accounting for the whole panorama of neurocognition. This holistic and systemic approach to the brain is consistent with the network approach of the neuroimaging era. As to epilepsy, the logic of cognitive functions organized into complex functional systems, contrary to modular views of the brain, heralds current knowledge of epilepsy as a network disease, as well as the concept of the functional deficit zone.

Background Infantile epileptic spasms syndrome (IESS) is a rare but severe condition affecting children early and is usually secondary to an identifiable brain disorder. It is related to psychomotor deterioration in childhood and epilepsy in adult life. Treatment is challenging as infantile spasms may not respond to most antiseizure medication, and relapse is frequent.

Background Epilepsy is a common neurological disease that affects people all over the world, but it is rarely described in indigenous peoples.

La epilepsia es una condición neurológica que afecta a millones de personas en el mundo. Los estudios sobre frecuencia de epilepsia en Venezuela y en Latinoamérica son escasos, y se basan en clasificaciones desactualizadas. El objetivo de esta investigación fue determinar la casuística de epilepsia y del tipo de crisis, en pacientes de Barinas, Venezuela, durante los años 2021 - 2023. Se realizó un estudio descriptivo, transversal, en una muestra de 213 pacientes. Los resultados evidenciaron que 74 pacientes (34,7%) presentaron crisis de inicio focal; hubo preservación de la conciencia en el 91,9% de los casos y afectación de la misma en el 8,1%. De los pacientes que presentaron crisis de inicio focal, el 33,8% evolucionó a bilateral tónico-clónica. Las manifestaciones exclusivas motoras se presentaron en el 27% de los pacientes, y las no motoras en el 66,2%; mientras que el resto presentó crisis con ambos tipos de manifestaciones. Por otra parte, 134 (62,9%) pacientes presentaron crisis de inicio generalizado; 97,8% presentó manifestaciones motoras puras, siendo más frecuentes las crisis motoras tónico-clónicas (92,5%), y solo el 1,5% cursó con manifestaciones no motoras puras. El fármaco antiepiléptico más empleado fue la carbamazepina (41,8%) seguido del ácido valproico (12,7%), mientras que la terapia combinada representó el 17,8%. Los resultados demuestran una mayor proporción de pacientes con epilepsia de inicio generalizado, por encima del inicio focal. Las manifestaciones motoras fueron más frecuentes en las crisis generalizadas, contrario a lo observado en las crisis de inicio focal.

Introducción: el manejo de la epilepsia en la paciente embarazada es un tema bastante controvertido por la presencia de los efectos teratogénicos de casi todos los fármacos existentes, igualmente la vía de atención al momento de la culminación de este genera preocupación en los facultativos a cargo de estas pacientes. Objetivo: evaluar la evidencia científica disponible al respecto del abordaje de la epilepsia durante la gestación. Metodología: revisión sistemática en la literatura basada en la evidencia científica disponible a través de estudios multicéntricos y metaanálisis, buscando responder a las interrogantes sobre cuáles son las indicaciones de manejo, ajuste de dosis, vía de atención al culminar el embarazo, efectos teratogénicos entre otras. Se discute el impacto del control de las convulsiones en el embarazo y de la farmacocinética de los fármacos antiepilépticos durante este. Esta información se usa para discutir cómo se puede optimizar el tratamiento durante el embarazo. Conclusiones: el desafío en el manejo de la epilepsia durante el embarazo es equilibrar los riesgos teratogénicos frente a un óptimo control de las crisis comiciales. El asesoramiento previo al embarazo es esencial para garantizar el tratamiento antiepiléptico más adecuado y la administración de dosis mayores de folatos, debe enfatizarse que la gran mayoría de las mujeres con epilepsia tendrán embarazos sin incidentes y darán a luz niños sanos. El objetivo de las recomendaciones de esta revisión es facilitar aún más estos resultados positivos en el embarazo y al culminar el mismo.