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1.
Arch. argent. pediatr ; 121(1): e202202677, feb. 2023. tab, graf, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1413008

ABSTRACT

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.


Subject(s)
Humans , Carbohydrate Metabolism, Inborn Errors/diagnosis , Carbohydrate Metabolism, Inborn Errors/genetics , Carbohydrate Metabolism, Inborn Errors/therapy , Monosaccharide Transport Proteins/genetics , Epilepsy/diagnosis , Epilepsy/genetics , Mutation
2.
Journal of Biomedical Engineering ; (6): 272-279, 2023.
Article in Chinese | WPRIM | ID: wpr-981539

ABSTRACT

Accurate source localization of the epileptogenic zone (EZ) is the primary condition of surgical removal of EZ. The traditional localization results based on three-dimensional ball model or standard head model may cause errors. This study intended to localize the EZ by using the patient-specific head model and multi-dipole algorithms using spikes during sleep. Then the current density distribution on the cortex was computed and used to construct the phase transfer entropy functional connectivity network between different brain areas to obtain the localization of EZ. The experiment result showed that our improved methods could reach the accuracy of 89.27% and the number of implanted electrodes could be reduced by (19.34 ± 7.15)%. This work can not only improve the accuracy of EZ localization, but also reduce the additional injury and potential risk caused by preoperative examination and surgical operation, and provide a more intuitive and effective reference for neurosurgeons to make surgical plans.


Subject(s)
Humans , Scalp , Brain Mapping/methods , Epilepsy/diagnosis , Electroencephalography/methods , Brain
3.
In. Pedemonti, Adriana; González Brandi, Nancy. Manejo de las urgencias y emergencias pediátricas: incluye casos clínicos. Montevideo, Cuadrado, 2022. p.265-276.
Monography in Spanish | LILACS, UY-BNMED, BNUY | ID: biblio-1525472
4.
Chinese Journal of Contemporary Pediatrics ; (12): 197-203, 2022.
Article in English | WPRIM | ID: wpr-928587

ABSTRACT

Neonatal seizures are the most common clinical manifestations of critically ill neonates and often suggest serious diseases and complicated etiologies. The precise diagnosis of this disease can optimize the use of anti-seizure medication, reduce hospital costs, and improve the long-term neurodevelopmental outcomes. Currently, a few artificial intelligence-assisted diagnosis and treatment systems have been developed for neonatal seizures, but there is still a lack of high-level evidence for the diagnosis and treatment value in the real world. Based on an artificial intelligence-assisted diagnosis and treatment systems that has been developed for neonatal seizures, this study plans to recruit 370 neonates at a high risk of seizures from 6 neonatal intensive care units (NICUs) in China, in order to evaluate the effect of the system on the diagnosis, treatment, and prognosis of neonatal seizures in neonates with different gestational ages in the NICU. In this study, a diagnostic study protocol is used to evaluate the diagnostic value of the system, and a randomized parallel-controlled trial is designed to evaluate the effect of the system on the treatment and prognosis of neonates at a high risk of seizures. This multicenter prospective study will provide high-level evidence for the clinical application of artificial intelligence-assisted diagnosis and treatment systems for neonatal seizures in the real world.


Subject(s)
Humans , Infant, Newborn , Artificial Intelligence , Electroencephalography/methods , Epilepsy/diagnosis , Infant, Newborn, Diseases/diagnosis , Intensive Care Units, Neonatal , Multicenter Studies as Topic , Prospective Studies , Randomized Controlled Trials as Topic , Seizures/drug therapy
5.
Journal of Biomedical Engineering ; (6): 293-300, 2022.
Article in Chinese | WPRIM | ID: wpr-928225

ABSTRACT

In recent years, epileptic seizure detection based on electroencephalogram (EEG) has attracted the widespread attention of the academic. However, it is difficult to collect data from epileptic seizure, and it is easy to cause over fitting phenomenon under the condition of few training data. In order to solve this problem, this paper took the CHB-MIT epilepsy EEG dataset from Boston Children's Hospital as the research object, and applied wavelet transform for data augmentation by setting different wavelet transform scale factors. In addition, by combining deep learning, ensemble learning, transfer learning and other methods, an epilepsy detection method with high accuracy for specific epilepsy patients was proposed under the condition of insufficient learning samples. In test, the wavelet transform scale factors 2, 4 and 8 were set for experimental comparison and verification. When the wavelet scale factor was 8, the average accuracy, average sensitivity and average specificity was 95.47%, 93.89% and 96.48%, respectively. Through comparative experiments with recent relevant literatures, the advantages of the proposed method were verified. Our results might provide reference for the clinical application of epilepsy detection.


Subject(s)
Child , Humans , Algorithms , Deep Learning , Electroencephalography , Epilepsy/diagnosis , Seizures/diagnosis , Signal Processing, Computer-Assisted , Wavelet Analysis
6.
Rio de Janeiro; s.n; 2022. 182 p. ilus, graf, tab.
Thesis in Portuguese | LILACS | ID: biblio-1551906

ABSTRACT

Nos últimos anos, o emprego na prática clínica de painéis genéticos e do sequenciamento do exoma e do genoma permitiu o diagnóstico em pacientes sem uma etiologia definida, principalmente nas Encefalopatias Epilépticas e do Desenvolvimento (EEDs). A identificação das formas de epilepsia geneticamente determinadas permite caracterizar melhor sua história natural e orientar o tratamento, ao mesmo tempo em que propicia o aconselhamento genético. O objetivo do estudo foi descrever o fenótipo de indivíduos com epilepsia geneticamente determinada com variantes patogênicas ou provavelmente patogênicas, previamente identificadas pelo NGS. Foram incluídos pacientes até a idade de 18 anos, acompanhados por serviços de Neurologia Infantil e/ou de Genética Médica no estado do Rio de Janeiro, provenientes de hospitais públicos ou de clínicas privadas. O estudo, de natureza descritiva e transversal, foi realizado através da análise de uma amostra de conveniência. No período de abril de 2020 até dezembro de 2021, foram incluídos 75 pacientes, cujo diagnóstico etiológico foi relacionado a 53 genes diferentes. O tipo de sequenciamento de nova geração realizado foi exoma em 56 (74,6%) pacientes, painel genético em 18 (24%) e genoma em um (1,7%). Em relação ao padrão de herança dos 53 genes, 50 (67%) pacientes apresentavam variantes deletérias em genes de herança autossômica dominante (AD), dez (13%) em genes com herança autossômica recessiva (AR), 12 (16%) em genes com o padrão dominante ligado ao X (XD) e 3 (4%) em genes com herança recessiva ligada ao X (XR). O teste em trio foi realizado em 37 pacientes (49,3%) e 33 pacientes apresentaram variantes de novo. O tipo de variante mais frequente foi a missense, seguida pelas variantes frameshift, variantes em regiões de sítio de splicing, deleções in-frame e variantes nonsense. A média de idade do diagnóstico da epilepsia foi de 18 meses, variando entre o primeiro dia de vida até 12 anos. Diagnóstico de EED foi estabelecido em 97,3% pacientes (N=73), na média de idade de 3 anos e 1 mês, e 36 pacientes apresentam uma síndrome epiléptica específica, sendo as mais comuns as Síndromes de West e de Lennox-Gastaut. O padrão de herança de maior frequência no grupo estudado foi AD. Os genes mais frequentes encontrados na nossa amostra foram: genes com herança AD: SCN8A (8%), STXBP1 (8%), KCNQ2 (6,6%), KCNT1 (4%); ligada ao XD: CDKL5 (4%); PCDH19 (4%); e AR: RARS2 (2,6%). O maior número de pacientes está associado a genes que sintetizam canais iônicos voltagem-dependentes (N=19/25,3%) e os genes mais frequentes foram, sucessivamente: SCN8A, KCNQ2, KCNT1, KCNA2. Na nossa amostra, somente dois pacientes conseguiram realizar o exame pelo SUS. O tempo médio de espera para realização do NGS foi de 8 meses. O conhecimento e a interpretação dos resultados dos testes genéticos moleculares têm evoluído de maneira substancial. Disponibilizar o NGS de forma universal para pacientes com suspeita de epilepsia de origem genética, permitirá o diagnóstico de um maior número de pacientes, a identificação de casos atípicos e a adequação terapêutica.


In recent years, the use in clinical practice of genetic panels, exome and genome sequencing has allowed the diagnosis in patients without a defined etiology, mainly in epileptic and developmental encephalopathies (EED). The identification of genetically determined forms of epilepsy makes it possible to better characterize its natural history, guide treatment and provide genetic counseling. The aim of the study was to describe the phenotype of individuals with genetically determined epilepsy with pathogenic or probably pathogenic variants, previously identified by NGS. Patients up to the age of 18 years, followed by Child Neurology and/or Medical Genetics services in the State of Rio de Janeiro, from Public Hospitals or private clinics were included. The study was descriptive and transversal, through the analysis of a convenience sample. From April 2020 to December 2021, 75 patients were included, whose etiological diagnosis was related to 53 different genes. The type of next-generation sequencing performed was exome in 56 (74.6%) patients, genetic panel in 18 (24%) and 1 (1.7%) performed the genome. Regarding the inheritance pattern of the 53 genes, 50 (67%) patients had deleterious variants in genes of autosomal dominant inheritance (AD), 10 (13%) in genes with autosomal recessive inheritance (AR), 12 (16%) with dominant pattern X-linked (XD) and 3 (4%) with X-linked recessive inheritance (XR). Trio testing was performed in 37 patients (49.3%) and 33 patients have de novo variants. The most frequent type of variant was missense, followed by frameshift variants, variants in splicing site regions, in- frame and nonsense variants. The mean age of epilepsy diagnosis was 18 months, ranging from the first day of life to 12 years. Diagnosis of DEE was established in 97.3% patients (N=73), with a mean age of 3 years and 1 month and 36 patients presented a specific epileptic syndrome, the most common being West syndrome and Lennox- Gastaut. The most frequent inheritance pattern in the studied group was AD. The most frequent genes found in our sample were: genes with AD inheritance: SCN8A (8%), STXBP1 (8%), KCNQ2 (6.6%), KCNT1 (4%); XD-linked: CDKL5 (4%); PCDH19 (4%); and AR: RARS2 (2.6%). The largest number of patients is associated with genes that synthesize voltage-gated ion channels (N=19/25.3%) and the most frequent genes were successively: SCN8A, KCNQ2, KCNT1, KCNA2. In our sample, only 2 patients were able to perform the exam through the SUS. The mean waiting time for performing the NGS was 8 months. Knowledge and interpretation of molecular genetic test results have evolved substantially. Making NGS universally available in patients suspected of having epilepsy of genetic origin, will allow the diagnosis of a greater number of patients, identification of atypical cases and therapeutic adequacy.


Subject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Adult , Brain Diseases/genetics , Epilepsy/diagnosis , Epilepsy/genetics , High-Throughput Nucleotide Sequencing , Exome Sequencing , Brazil , Cross-Sectional Studies
7.
Rev. bras. neurol ; 57(4): 23-30, out.-dez. 2021. ilus
Article in English | LILACS | ID: biblio-1359223

ABSTRACT

There is a close association between sleep and epilepsy, and this literature review aims to raise issues regarding sleep time control, circadian and ultradian rhythms, epilepsy and its interaction with sleep and circadian rhythm, epilepsy and sleep disorders, and finally epilepsy management and medications. It is mentioned that sleep may provide a hypersynchronous state, as occurs in non-rapid eye movement sleep (NREM), and hyperexcitability, in cyclic alternating pattern (CAP), allowing more frequent interictal epileptiform abnormalities and seizures. In some epilepsy syndromes, seizures occur broadly / or entirely during sleep or on awakening, mainly in childhood, and maybe exacerbated in adults during the sleep or sleep-deprived, and there are the so-called Sleep-related epilepsies that are divided as sleep-associated, sleep-accentuated and arousal/awakening related. Sleep quality may be reduced in patients with epilepsy also due to nocturnal seizures or concomitant sleep disorders. Sleep disorders are common in patients with epilepsy and treatment of them mainly sleep-disordered breathing may improve seizure control. Besides, some parasomnias may mimic seizures, and also they can adversely affect the quality and quantity of sleep whereas antiepileptic therapy can have a negative or positive effect on sleep. Nocturnal epileptic seizures may be challenging to discern from parasomnias, in particular NREM parasomnias such as night terrors, sleepwalking and confusional arousals.


Há uma estreita associação entre sono e epilepsia, e esta revisão de literatura tem como objetivo levantar questões relacionadas ao controle do tempo do sono, ritmos circadianos e ultradianos, epilepsia e sua interação com sono e ritmo circadiano, epilepsia e transtornos do sono e, finalmente, o tratamento e medicamentos para epilepsia. Menciona-se que o sono pode proporcionar um estado hipersincrônico, como ocorre no sono "non-rapid eye movement" (NREM), e hiperexcitabilidade, no "cyclic alternating pattern" (CAP), permitindo anormalidades epileptiformes interictais e crises epilépticas mais frequentes. Em algumas síndromes epilépticas, as crises ocorrem ampla / ou inteiramente durante o sono ou despertar, principalmente na infância, e podem ser exacerbadas em adultos durante o sono ou privação de sono, e as chamadas epilepsias relacionadas ao sono se dividem em sono associadas, sono acentuadas e relacionadas com o despertar. A qualidade do sono pode ser reduzida em pacientes com epilepsia também devido a crises epilépticas noturnas ou transtornos do sono concomitantes. Esses são comuns em pacientes com epilepsia e o seu tratamento, principalmente dos transtornos respiratórios do sono, pode melhorar o controle das crises epilépticas. Além disso, algumas parassonias podem mimetizar crises epilépticas, e também elas podem afetar adversamente a qualidade e a quantidade do sono, enquanto a terapia antiepiléptica pode ter um efeito negativo ou positivo sobre o sono. Pode ser difícil discernir as crises epilépticas noturnas das parassonias, em particular das parassonias NREM, como terrores noturnos, crises de sonambulismo e despertares confusionais.


Subject(s)
Humans , Child , Adult , Sleep Deprivation , Sleep Wake Disorders/etiology , Epilepsy/complications , Epilepsy/diagnosis , Seizures/etiology , Sleep Wake Disorders/complications , Circadian Rhythm , Epilepsy/drug therapy
8.
Rev. bras. neurol ; 57(4): 31-39, out.-dez. 2021. tab, ilus
Article in English | LILACS | ID: biblio-1359225

ABSTRACT

There is a known relationship between seizures and sleep deprivation that increases epileptiform abnormalities and slow waves expressed in the EEG, but chronic insomnia, greater in patients with epilepsy (PWEs) than in healthy control, supposedly has a different mechanism linked to a hyperarousability state with increased rapid EEG activity and associated "restless REM". Therefore, there is a complex interaction at various levels between insomnia and epilepsy that may play a role in seizure presentation. The recognized interconnection between mood and anxiety disorders and insomnia should also advise special care in the management of psychiatric comorbidities in PWEs. This article raises questions related to the interaction between the brain basis of insomnia and epilepsy and the triggers of seizures, particularly sleep deprivation.


Há uma relação conhecida entre crises epilépticas e privação de sono que aumenta as anormalidades epileptiformes e as ondas lentas expressas no EEG, mas a insônia crônica, maior em pacientes com epilepsia (PCE) do que no controle saudável, supostamente tem um mecanismo diferente ligado a um estado de hiperexcitabilidade com aumento da atividade rápida do EEG e associado "REM inquieto". Consequentemente, existe uma complexa interação em vários níveis entre a insônia e a epilepsia que pode desempenhar um papel na apresentação das crises. A reconhecida interligação entre transtornos de humor e ansiedade com a insônia também deve aconselhar um cuidado especial no manejo das comorbidades psiquiátricas do PCE. Este artigo levanta questões relacionadas à interação entre a base cerebral da insônia e da epilepsia e os desencadeadores de crises epilépticas, principalmente a privação do sono.


Subject(s)
Humans , Adult , Sleep Deprivation , Epilepsy/complications , Epilepsy/diagnosis , Sleep Initiation and Maintenance Disorders/physiopathology , Sleep Initiation and Maintenance Disorders/epidemiology , Seizures/etiology , Sleep Wake Disorders , Prevalence , Risk Factors , Sleep Initiation and Maintenance Disorders/etiology , Mental Disorders
9.
Arq. neuropsiquiatr ; 79(11): 957-962, Nov. 2021. tab, graf
Article in English | LILACS | ID: biblio-1350141

ABSTRACT

ABSTRACT Background: It has been reported that 10 to 30% of patients sent to epilepsy centers with a diagnosis of refractory epilepsy are diagnosed with psychogenic non-epileptic seizure (PNES). A wide variety of provocative methods are used to assist PNES diagnosis. Objective: To investigate the effect of seizure induction on the diagnosis and prognosis of PNES. Methods: We retrospectively examined 91 patients with PNES complaints in our video-EEG laboratory. Intravenous saline was administered to all patients for induction of seizures. Results: Saline injection was performed in 91 patients referred to our EEG lab with PNES initial diagnosis, 57 of whom were female and 34 male. Saline injection triggered an attack in 82 patients (90%). Conclusions: In this study we have concluded that provocative methods are practical, cheap and, most of all, effective for patient diagnosis. In clinical practice, explaining the diagnosis is the first and most important step of the treatment, and careful patient-doctor communication has a positive impact on patient prognosis.


RESUMO Antecedentes: Há relatos de que 10 a 30% dos pacientes com epilepsia refratária enviados a centros de epilepsia são diagnosticados com crise não epiléptica psicogênica (CNEP). Uma ampla variedade de métodos provocativos é usada para auxiliar no diagnóstico de CNEP. Objetivo: Investigar o efeito da indução de convulsões no diagnóstico e no prognóstico de CNEP. Métodos: Examinamos 91 pacientes com queixas de CNEP em nosso laboratório de vídeo-EEG. Foi administrada solução salina intravenosa a todos os pacientes para indução de convulsões. Resultados: A injeção de solução salina foi realizada em 91 pacientes com diagnóstico inicial de CNEP encaminhados ao nosso laboratório de EEG, 57 dos quais eram mulheres e 34 homens. A injeção de solução salina desencadeou um ataque em 82 pacientes (90%). Conclusões: Neste estudo, concluímos que os métodos provocativos são práticos, baratos e, acima de tudo, eficazes para o diagnóstico de pacientes. Na prática clínica, a explicação do diagnóstico é a primeira e mais importante etapa do tratamento, e a comunicação cuidadosa entre médicos e pacientes tem um impacto positivo em seu prognóstico.


Subject(s)
Humans , Male , Female , Seizures/diagnosis , Epilepsy/diagnosis , Retrospective Studies , Diagnosis, Differential , Electroencephalography
10.
Rev. chil. endocrinol. diabetes ; 14(1): 17-20, 2021. tab, ilus
Article in Spanish | LILACS | ID: biblio-1146467

ABSTRACT

Insulinoma es un tumor neuroendocrino que surge de las células ß del páncreas y produce hiperinsulinemia endógena. Son neoplasias raras con una incidencia reportada de 4 casos por millón de habitantes por año. La presentación clínica típicamente cursa con síntomas adrenérgicos y neuroglucopénicos secundarios a hipoglicemia. Requiere estudios de niveles séricos de insulina, pro-insulina y péptido C, además de imágenes diagnosticas que confirmen los hallazgos. La mayoría de los insulinomas son benignos, su sitio primario más común es el páncreas y pueden extirparse quirúrgicamente. Se presenta el caso de un hombre de 36 años con déficit cognitivo leve y episodios de diaforesis con deterioro neurológico hasta convulsiones tónico clónicas generalizadas que curiosamente resolvían con uso doméstico de "panela molida". Se ingresó a urgencias por ataques recurrentes de hipoglicemia severa con requerimiento de altas dosis de dextrosa al 50% por acceso central, hasta confirmación diagnóstica, intervención y resección de tumor neuroendocrino pancreático bien diferenciado (G1 según clasificación OMS) tipo insulinoma en la cola del páncreas.


Insulinoma is a neuroendocrine tumor that arises from the ß cells of the pancreas and produces endogenous hyperinsulinemia. They are rare neoplasms with a reported incidence to 4 cases per million inhabitants per year. The clinical presentation typically presents with adrenergic and neuroglycopenic symptoms secondary to hypoglycemia. It requires studies of serum levels of insulin, pro-insulin and C-peptide, in addition to diagnostic images that confirm the findings. Most insulinomas are benign, their most common primary site is the pancreas, and they can be removed surgically. We present the case of a 36-year-old man with mild cognitive deficits and episodes of diaphoresis with neurological deterioration to generalized clonic tonic seizures that curiously resolved with domestic use of "ground brown sugar". He was admitted to the emergency department due to recurrent attacks of severe hypoglycemia with a high-dose requirement for 50% dextrose through central access, until diagnostic confirmation, intervention, and resection of a welldifferentiated pancreatic neuroendocrine tumor (G1 according to WHO classification) insulinoma in the tail of pancreas.


Subject(s)
Humans , Male , Adult , Pancreatic Neoplasms/diagnosis , Insulinoma/diagnosis , Pancreatic Neoplasms/surgery , Pancreatic Neoplasms/complications , Magnetic Resonance Imaging , Neuroendocrine Tumors , Diagnosis, Differential , Epilepsy/diagnosis , Glucose/therapeutic use , Hyperinsulinism/etiology , Hypoglycemia/etiology , Hypoglycemia/drug therapy , Insulinoma/surgery , Insulinoma/complications
11.
Journal of Biomedical Engineering ; (6): 1193-1202, 2021.
Article in Chinese | WPRIM | ID: wpr-921861

ABSTRACT

As a common disease in nervous system, epilepsy is possessed of characteristics of high incidence, suddenness and recurrent seizures. Timely prediction with corresponding rescues and treatments can be regarded as effective countermeasure to epilepsy emergencies, while most accidental injuries can thus be avoided. Currently, how to use electroencephalogram (EEG) signals to predict seizure is becoming a highlight topic in epilepsy researches. In spite of significant progress that made, more efforts are still to be made before clinical applications. This paper reviews past epilepsy studies, including research records and critical technologies. Contributions of machine learning (ML) and deep learning (DL) on seizure predictions have been emphasized. Since feature selection and model generalization limit prediction ratings of conventional ML measures, DL based seizure predictions predominate future epilepsy studies. Consequently, more exploration may be vitally important for promoting clinical applications of epileptic seizure prediction.


Subject(s)
Humans , Electroencephalography , Epilepsy/diagnosis , Machine Learning , Seizures/diagnosis , Signal Processing, Computer-Assisted
12.
Journal of Biomedical Engineering ; (6): 1035-1042, 2021.
Article in Chinese | WPRIM | ID: wpr-921843

ABSTRACT

It is very important for epilepsy treatment to distinguish epileptic seizure and non-seizure. In this study, an automatic seizure detection algorithm based on dual density dual tree complex wavelet transform (DD-DT CWT) for intracranial electroencephalogram (iEEG) was proposed. The experimental data were collected from 15 719 competition data set up by the National Institutes of Health (NINDS) in Kaggle. The processed database consisted of 55 023 seizure epochs and 501 990 non-seizure epochs. Each epoch was 1 second long and contained 174 sampling points. Firstly, the signal was resampled. Then, DD-DT CWT was used for EEG signal processing. Four kinds of features include wavelet entropy, variance, energy and mean value were extracted from the signal. Finally, these features were sent to least squares-support vector machine (LS-SVM) for learning and classification. The appropriate decomposition level was selected by comparing the experimental results under different wavelet decomposition levels. The experimental results showed that the features selected in this paper were different between seizure and non-seizure. Among the eight patients, the average accuracy of three-level decomposition classification was 91.98%, the sensitivity was 90.15%, and the specificity was 93.81%. The work of this paper shows that our algorithm has excellent performance in the two classification of EEG signals of epileptic patients, and can detect the seizure period automatically and efficiently.


Subject(s)
Humans , Algorithms , Electroencephalography , Epilepsy/diagnosis , Seizures/diagnosis , Signal Processing, Computer-Assisted , Support Vector Machine , Wavelet Analysis
13.
Journal of Biomedical Engineering ; (6): 39-46, 2021.
Article in Chinese | WPRIM | ID: wpr-879247

ABSTRACT

At present the prediction method of epilepsy patients is very time-consuming and vulnerable to subjective factors, so this paper presented an automatic recognition method of epilepsy electroencephalogram (EEG) based on common spatial model (CSP) and support vector machine (SVM). In this method, the CSP algorithm for extracting spatial characteristics was applied to the detection of epileptic EEG signals. However, the algorithm did not consider the nonlinear dynamic characteristics of the signals and ignored the time-frequency information, so the complementary characteristics of standard deviation, entropy and wavelet packet energy were selected for the combination in the feature extraction stage. The classification process adopted a new double classification model based on SVM. First, the normal, interictal and ictal periods were divided into normal and paroxysmal periods (including interictal and ictal periods), and then the samples belonging to the paroxysmal periods were classified into interictal and ictal periods. Finally, three categories of recognition were realized. The experimental data came from the epilepsy study at the University of Bonn in Germany. The average recognition rate was 98.73% in the first category and 99.90% in the second category. The experimental results show that the introduction of spatial characteristics and double classification model can effectively solve the problem of low recognition rate between interictal and ictal periods in many literatures, and improve the identification efficiency of each period, so it provides an effective detecting means for the prediction of epilepsy.


Subject(s)
Humans , Algorithms , Electroencephalography , Epilepsy/diagnosis , Signal Processing, Computer-Assisted , Support Vector Machine
14.
Rev. Hosp. Ital. B. Aires (2004) ; 40(4): 199-207, dic. 2020. ilus, tab
Article in Spanish | LILACS | ID: biblio-1145501

ABSTRACT

La encefalitis límbica es una enfermedad infrecuente y potencialmente grave, que puede o no ser paraneoplásica y se caracteriza por déficit de la memoria reciente, alteraciones psiquiátricas y convulsiones. De origen autoinmunitario, está asociada a anticuerpos séricos e intratecales contra antígenos neuronales intracelulares y de superficie, con especial afectación de zonas límbicas. En este artículo se revisan aspectos históricos y epidemiológicos, patogenia, síndromes más frecuentes y mejor delimitados, histopatología y estudios complementarios. Se repasan también las dificultades del diagnóstico diferencial y la necesidad de descartar siempre un tumor subyacente. La detección de autoanticuerpos neuronales es importante para el diagnóstico, la planificación terapéutica y el pronóstico. La inmunoterapia y, si corresponde, el tratamiento de la neoplasia son cruciales para lograr una recuperación neurológica sustancial. La encefalitis límbica es una entidad probablemente subdiagnosticada, con un pronóstico más favorable si se trata de forma temprana. El actual conocimiento de su patogenia puede además aportar claridad para la mejor comprensión de otros síndromes neurológicos y psiquiátricos que puedan compartir mecanismos autoinmunitarios, como algunos trastornos psicóticos y epilepsias farmacorresistentes. (AU)


Limbic encephalitis is a rare and potentially serious disease, which may or may not be paraneoplastic and is characterized by recent memory deficits, psychiatric disturbances and seizures. Of autoimmune origin, it is associated with serum and intrathecal antibodies against intracellular and surface neuronal antigens, with special involvement of limbic areas. This article reviews historical and epidemiological aspects, pathogenesis, more frequent and better defined syndromes, histopathology and complementary studies. The difficulties of differential diagnosis and the need to always rule out an underlying tumor are also reviewed. Detection of neuronal autoantibodies is important for diagnosis, therapeutic planning and prognosis. Immunotherapy and, if appropriate, neoplasm treatment, are crucial to achieve substantial neurological recovery. Limbic encephalitis is probably an underdiagnosed entity, with a more favorable prognosis if treated early. The current knowledge of its pathogenesis may also provide clarity for a better understanding of other neurological and psychiatric syndromes that may share autoimmune mechanisms, such as some psychotic disorders and drug-resistant epilepsies. (AU)


Subject(s)
Humans , Autoantibodies/metabolism , Autoimmune Diseases/pathology , Paraneoplastic Syndromes, Nervous System/pathology , Limbic Encephalitis/pathology , Psychotic Disorders/diagnosis , Psychotic Disorders/etiology , Autoimmune Diseases/diagnosis , Autoimmune Diseases/etiology , Autoimmune Diseases/therapy , Review Literature as Topic , Paraneoplastic Syndromes, Nervous System/diagnosis , Paraneoplastic Syndromes, Nervous System/etiology , Paraneoplastic Syndromes, Nervous System/therapy , Limbic Encephalitis/diagnosis , Limbic Encephalitis/etiology , Limbic Encephalitis/history , Limbic Encephalitis/therapy , Epilepsy/diagnosis , Epilepsy/etiology
15.
Bol. méd. Hosp. Infant. Méx ; 77(6): 331-336, Nov.-Dec. 2020. graf
Article in Spanish | LILACS | ID: biblio-1142484

ABSTRACT

Resumen Introducción: La calcinosis cutis es el depósito de sales insolubles de calcio en la piel y se clasifica, de acuerdo con su patogénesis, en distrófica, metastásica, idiopática, iatrogénica y calcifilaxis. La calcinosis idiopática se presenta en pacientes sanos y es asintomática; incluye la calcinosis escrotal, la calcinosis nodular de Winer o nódulos calcificados subepidérmicos y la calcinosis tumoral familiar. Esta última es una condición rara que se caracteriza por el depósito de calcio periarticular en pacientes normocalcémicos sin conexión al hueso. Caso clínico: Paciente de sexo masculino de 5 meses de edad, quien al séptimo día de vida fue hospitalizado por ictericia multifactorial, sepsis neonatal tardía y apnea con crisis epilépticas. La evolución fue tórpida, con ingresos hospitalarios por crisis epilépticas de difícil manejo, respuesta parcial a la difenilhidantoína y descontrol electrolítico. Mediante la secuenciación del exoma dirigido se detectó una variante patogénica de sentido equivocado en FGF12 que confirmó el diagnóstico de encefalopatía epiléptica temprana número 47. Además, el paciente presentó dermatosis congénita diseminada a las extremidades inferiores con afección en muslos, asintomática, bilateral y simétrica, constituida por hipopigmentación y fóveas duras a la palpación profunda. La biopsia mostró calcificación distrófica. Conclusiones: Se presenta el caso de un lactante con calcinosis cutis congénita profunda asociada con una variante patogénica en el gen FGF12 y con encefalopatía epiléptica, situación clínica que, a la fecha, no había sido reportada en la literatura.


Abstract Background: Calcinosis cutis is the deposit of insoluble calcium salts in the skin. It is classified according to its pathogenesis in dystrophic, metastatic, idiopathic, iatrogenic, and calciphylaxis. Idiopathic calcinosis is asymptomatic, occurs in healthy patients, and includes scrotal calcinosis, Winer's nodular calcinosis or subepidermal calcified nodules, and familial tumor calcinosis. The latter is a rare condition characterized by periarticular calcium deposition in normocalcemic patients with no bone connection. Case report: The case of a 5-month-old male patient, who on the seventh day of life was hospitalized for multifactorial jaundice, late neonatal sepsis, and apnea with epileptic seizures is described. His evolution was torpid, with hospital admissions due to epileptic seizures that were difficult to manage with partial response to the use of diphenylhydantoin and electrolyte alterations. By means of exome sequencing directed, a pathogenic variant of wrong direction in FGF12 was detected and the diagnosis of early epileptic encephalopathy number 47 was confirmed. Also, the patient showed disseminated congenital dermatosis to lower extremities affecting thighs, asymptomatic, bilateral and symmetrical, constituted by hypopigmentation and fovea hard to deep palpation. The biopsy showed dystrophic calcification Conclusions: The case of an infant with deep congenital cutis calcinosis associated with a pathogenic variant in the FGF12 gene with epileptic encephalopathy is described. To date, this clinical situation has not been previously reported in the literature.


Subject(s)
Humans , Infant , Male , Skin Diseases , Brain Diseases , Calcinosis , Epilepsy , Skin Diseases/complications , Skin Diseases/diagnosis , Skin Diseases/genetics , Brain Diseases/diagnosis , Brain Diseases/genetics , Calcinosis/complications , Calcinosis/congenital , Calcinosis/genetics , Epilepsy/diagnosis , Epilepsy/genetics , Fibroblast Growth Factors/genetics
16.
Rev. chil. pediatr ; 91(5): 761-766, oct. 2020. tab
Article in Spanish | LILACS | ID: biblio-1144276

ABSTRACT

INTRODUCCIÓN: La asociación de casos familiares de epilepsia y discapacidad intelectual (DI) en mujeres fue reportada en 1971. El año 2008, se identificó el rol de variantes patogénicas del gen PCDH19 en algunas familias. La enfermedad se presenta con crisis febriles en cluster, DI y rasgos autistas. La mayoría se debe a variantes de novo, pero hay algunos casos heredados por un modo peculiar de transmisión ligada X. OBJETIVO: Comunicar el caso de una paciente con epilepsia portadora de una variante patogénica en el gen PCDH1 9, revisando la historia natural de la enfermedad y la evidencia disponible para su manejo. CASO CLÍNICO: Paciente femenina, con antecedentes de embarazo y período perinatal normal. A los 6 meses, estando febril, presentó crisis focales motoras en cluster que repitieron a los 14, 18, 21 meses y 3 años siempre asociadas a fiebre, presentando incluso estatus epiléptico. Mantiene biterapia con topiramato y ácido valproico, completando 13 años sin crisis. El estudio del gen SCN1A no mostró anomalías y el estudio del gen PCDH19 reveló una variante patogénica en heterocigosis, "de novo". La paciente ha evolucionado con DI y alteraciones conductuales severas que requieren aten ción de salud mental. CONCLUSIONES: Las variantes patogénicas PCDH19 tienen expresión fenotípica variada. El diagnóstico genético debe sospecharse con la clínica. La morbilidad psiquiátrica a largo plazo puede ser incapacitante.


INTRODUCTION: The association of family cases of epilepsy and intellectual disability in women was reported in 1971. In 2008, the role of pathogenic variants of the PCDH19 gene in some families were identified. The disease presents with febrile seizure clusters, intellectual disability, and autistic features. Most cases are due to de novo variants, however, there are some inherited cases, with an atypical way of X-linked transmission. OBJECTIVE: To report the case of a patient with epilepsy carrier of a pathogenic variant of the PCDH19 gene, reviewing the natural history of this condition and the available evidence for its management. CLINICAL CASE: Female patient, with normal history of pregnancy and perinatal period. At 6 months, while febrile, she presented focal motor seizure clusters that repeated at 14, 18, 21 months and 3 years old, always associated with fever, even presenting status epilepticus. She is on therapy with topiramate and valproic acid, achieving 13 seizure-free years. The analysis of the SCN1A gene showed no abnormalities and the study of the PCDH19 gene revealed a de novo heterozygous pathogenic variant. The patient evolved with intellectual disability and severe behavioral disorders that require mental health team support. CONCLUSIONS: PCDH19 pathogenic variants have varied phenotypic expression. The genetic diagnosis should be guided with the clinical features. Long-term psychiatric morbidity can be disabling.


Subject(s)
Humans , Female , Adolescent , Cadherins/genetics , Mutation, Missense , Epilepsy/genetics , Intellectual Disability/genetics , Genetic Markers , Diagnosis, Differential , Epilepsy/complications , Epilepsy/diagnosis , Heterozygote , Intellectual Disability/complications , Intellectual Disability/diagnosis
17.
Arq. neuropsiquiatr ; 78(7): 424-429, July 2020. tab, graf
Article in English | LILACS | ID: biblio-1131727

ABSTRACT

ABSTRACT Objective: Ubiquitin C-terminal Hydrolase-L1 (UCH-L1) enzyme levels were investigated in patients with epilepsy, epileptic seizure, remission period, and healthy individuals. Methods: Three main groups were evaluated, including epileptic seizure, patients with epilepsy in the non-seizure period, and healthy volunteers. The patients having a seizure in the Emergency department or brought by a postictal confusion were included in the epileptic attack group. The patients having a seizure attack or presenting to the Neurology outpatient department for follow up were included in the non-seizure (remission period) group. Results: The UCH-L1 enzyme levels of 160 patients with epilepsy (80 patients with epileptic attack and 80 patients with epilepsy in the non-seizure period) and 100 healthy volunteers were compared. Whereas the UCH-L1 enzyme levels were 8.30 (IQR=6.57‒11.40) ng/mL in all patients with epilepsy, they were detected as 3.90 (IQR=3.31‒7.22) ng/mL in healthy volunteers, and significantly increased in numbers for those with epilepsy (p<0.001). However, whereas the UCH-L1 levels were 8.50 (IQR=6.93‒11.16) ng/mL in the patients with epileptic seizures, they were 8.10 (IQR=6.22‒11.93) ng/mL in the non-seizure period, and no significant difference was detected (p=0.6123). When the UCH-L1 cut-off value was taken as 4.34 mg/mL in Receiver Operating Characteristic (ROC) Curve analysis, the sensitivity and specificity detected were 93.75 and 66.00%, respectively (AUG=0.801; p<0.0001; 95%CI 0.747‒0.848) for patients with epilepsy. Conclusion: Even though UCH-L1 levels significantly increased more in patients with epilepsy than in healthy individuals, there was no difference between epileptic seizure and non-seizure periods.


RESUMO Objetivo: Níveis da enzima ubiquitina C-terminal hidrolase-L1 (UCH-L1) foram investigados em pacientes com epilepsia, crise epiléptica, período de remissão e indivíduos saudáveis. Método: Foram avaliados três grupos principais, incluindo crise epiléptica, epilepsia no período não convulsivo e voluntários saudáveis. Pacientes com convulsão no departamento de emergência ou trazidos por confusão pós-ictal foram incluídos no grupo de crise epiléptica. Os pacientes que tiveram crise epiléptica ou foram ao ambulatório de Neurologia para acompanhamento foram incluídos no grupo não convulsivo (período de remissão). Resultados: Os níveis da enzima UCH-L1 de 160 pacientes com epilepsia (80 pacientes com crise epiléptica e 80 pacientes com epilepsia no período não convulsivo) e 100 voluntários saudáveis foram comparados. Enquanto os níveis da enzima UCH-L1 foram 8,30 (IQR=6,57‒11,40) ng/mL em todos os pacientes com epilepsia, os níveis detectados foram de 3,90 (IQR=3,31‒7,22) ng/mL em voluntários saudáveis e aumentaram significativamente na epilepsia (p<0,001). No entanto, ao passo que os níveis de UCH-L1 foram 8,50 (IQR=6,93‒11,16) ng/mL nos pacientes com crise epiléptica, foram 8,10 (IQR=6,22‒11,93) ng/mL no período não convulsivo, e nenhuma diferença significativa foi detectada (p=0,6123). Quando o valor de corte de UCH-L1 foi considerado 4,34 mg/mL com base na análise da curva ROC, sensibilidade e especificidade foram detectadas como 93,75 e 66,00%, respectivamente (AUG=0,801; p<0,0001; IC95% 0,747‒0,848) para os pacientes com epilepsia. Conclusão: Embora os níveis de UCH-L1 tenham aumentado significativamente nos pacientes com epilepsia em relação aos indivíduos saudáveis, não foi observada diferença entre crise epiléptica e períodos não convulsivos.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Seizures/etiology , Ubiquitin Thiolesterase/blood , Epilepsy/diagnosis , Seizures/blood , Biomarkers/blood , Case-Control Studies , ROC Curve , Sensitivity and Specificity , Epilepsy/blood
18.
Article in Spanish | LILACS | ID: biblio-1396231

ABSTRACT

Los Trastornos Paroxísticos No Epilépticos (TPNE), son diagnóstico diferencial de crisis epilépticas. En Chile no existen reportes de frecuencia. OBJETIVO: Determinar frecuencia de TPNE en pacientes derivados por sospecha de epilepsia a Unidad de Electroencefalografía, Hospital Roberto del Río. METODOLOGÍA: Estudio observacional, transversal. Se revisó registros clínicos de pacientes derivados por sospecha de epilepsia(2012- 2014). Inclusión: paciente con TPNE, >1 mes, sin epilepsia previa. Caracterización: sexo, edad, tipo/subtipo TPNE, comorbilidades, electroencefalograma (EEG), uso fármaco antiepiléptico (FAE). Aprobado por comité de ética. RESULTADOS: Derivados 913 pacientes por sospecha de epilepsia. 36% TPNE (2,3% con epilepsia concomitante), 22% epilepsia aislada. TPNE más frecuente: escolares (31%), adolescentes (29%), femenino (52%). 30,1% hipoxia cerebral (síncope, Espasmo Sollozo); 22,4% trastornos del comportamiento (Descontrol Episódico, Crisis Psicógena no Epiléptica). 32,8% con comorbilidades no epilépticas (Trastornos psiquiátricos/neurodesarrollo). 4,3 % recibieron FAE. CONCLUSIONES: La frecuencia de TPNE en niños/adolescentes supera a la de epilepsia. Es fundamental evaluación multidisciplinaria.


Paroxysmal non-epileptic events (PNE) are differential diagnosis of epileptic seizures. In Chile, there are no reports on its frequency. OBJECTIVE: To determine the frequency of PNE in patients referred for suspicion of epilepsy to the Electroencephalography Unit of Roberto del Río Hospital. METHODOLOGY: Observational, cross-sectional study. Clinical records of patients referred for suspicion of epilepsy (2012-2014) were reviewed. Inclusion: Patient with PNE, >1 month, without previous epilepsy. Characterization: gender, age, PNE type/subtype, comorbidities, electroencephalogram, use of antiepileptic drug (AED). Approved by the ethics committee. RESULTS: 913 patients were referred for suspected epilepsy: 36% PNE (2,3% with concomitant epilepsy), 22% isolated epilepsy. PNE were more frequent in children (31%) adolescents (29%), and in females (52%). 30.1% Cerebral hypoxia (syncope, breathholding-spells); 22,4% Behavioral disorders (Episodic loss of control, Non-Epileptic Psychogenic Seizures). 32.8% non-epileptic comorbidities (Psychiatric/ neurodevelopmental disorders). 4.3% received AEDs. CONCLUSIONS: The frequency of PNE in children and adolescents exceeds that of epilepsy. A multidisciplinary medical evaluation is of the outmost importance. Keywords: Paroxysmal Non-Epileptic Disorder, Non-epileptic episodes, Epilepsy.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Epilepsy/diagnosis , Epilepsy/epidemiology , Nervous System Diseases/diagnosis , Nervous System Diseases/epidemiology , Sleep Wake Disorders , Cross-Sectional Studies , Sex Distribution , Migraine without Aura , Diagnosis, Differential , Electroencephalography , Mental Disorders , Movement Disorders/diagnosis , Movement Disorders/epidemiology , Nervous System Diseases/classification
19.
Arq. bras. neurocir ; 39(1): 27-32, 15/03/2020.
Article in English | LILACS | ID: biblio-1362416

ABSTRACT

The surgical treatment for epilepsy has a worldwide historical relevance for centuries. There are archaeological reports that date it back to ancient Egypt; however, the year 1886 is considered a landmark in the surgical treatment for epilepsy in theModern Age, when the first surgery for the treatment of focal epileptic events was performed successfully. Since then, innumerable related articles have been published evoluonarily. Over the last centuries, new techniques and technologies provided better understanding, diagnosis and management for this disease. Thus, historical and evolutionary knowledge becomes important to let us better understand the current position of the surgery for epilepsy treatment and control.


Subject(s)
Epilepsy/surgery , Epilepsy/diagnosis , Epilepsy/history , Trephining/methods , Electrodes , Epilepsy, Temporal Lobe , Cerebrum/surgery
20.
Medicina (B.Aires) ; 79(supl.3): 20-24, set. 2019. tab
Article in Spanish | LILACS | ID: biblio-1040544

ABSTRACT

Las enfermedades neurometabólicas que manifiestan convulsiones y epilepsia constituyen un amplio grupo de trastornos hereditarios. Se pueden presentar a cualquier edad desde el período neonatal hasta la adolescencia. Las manifestaciones epilépticas pueden ser muy variadas y, en general, se trata de epilepsias refractarias a los fármacos antiepilépticos. La fenomenología epiléptica no contribuye al diagnóstico. Se deben conocer los errores innatos del metabolismo que responden al empleo de cofactores. En descompensaciones agudas es fundamental dar soporte nutricional, hidroelectrolítico y respiratorio. Es muy posible que en pocos años se pueda conocer el perfil metabolómico de estas enfermedades y así profundizar en el diagnóstico no invasivo y ofrecer mayores posibilidades terapéuticas para la epilepsia y especialmente para la enfermedad de base. No debemos olvidar los desórdenes metabólicos transitorios y los desequilibrios hidroelectrolíticos dentro de las causas de las convulsiones, en especial en el período neonatal, que se deben identificar y tratar precozmente para evitar daños mayores.


Neurometabolic diseases that manifest seizures and epilepsy are a large group of inherited disorders. They can present at any age from the neonatal period to adolescence. The epileptic manifestations can be very varied and, in general, they are epilepsies refractory to antiepileptic drugs. Epileptic phenomenology does not contribute to the diagnosis. The inborn errors of metabolism that respond to the use of cofactors should be known. In acute decompensation, it is essential to provide nutritional, hydroelectrolytic and respiratory support. It is possible that in a few years we can detect the metabolomic profile of these diseases, thus knowing better the diagnosis non-invasively and offering greater therapeutic possibilities for their epilepsy and especially for the underlying disease. We must not forget the transitory metabolic disorders and the electrolyte imbalances within the causes of seizures, especially in the neonatal period, and must be identified and treated early to avoid major damages.


Subject(s)
Humans , Infant, Newborn , Epilepsy/etiology , Metabolic Diseases/complications , Seizures/classification , Seizures/etiology , Seizures/therapy , Electroencephalography , Epilepsy/diagnosis , Epilepsy/therapy
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