RESUMO
BACKGROUND: Recurrent and prolonged seizures are harmful for the developing brain, emphasizing the importance of early seizure recognition and effective therapy. Amplitude-integrated electroencephalography (aEEG) has become a valuable tool to diagnose epileptic seizures, and, in parallel, genetic etiologies are increasingly being recognized, changing the paradigm of the workup and management of neonatal seizures. OBJECTIVE: To report the ictal aEEG pattern in neonates with KCNQ2-related epilepsy. SUBJECTS AND METHODS: In this multicenter descriptive study, clinical data and aEEG findings of 9 newborns with KCNQ2 mutations are reported. RESULTS: Refractory seizures occurred in the early neonatal period with similar seizure type, including tonic features, apnea, and desaturation. A distinct aEEG seizure pattern, consisting of a sudden rise of the lower and upper margin of the aEEG, followed by a marked depression of the aEEG amplitude, was found in 8 of the 9 patients. Prompt recognition of this pattern led to early treatment with carbamazepine in the 2 most recent cases. CONCLUSION: Early recognition of the electroclinical phenotype by using aEEG may direct genetic testing and a precision medicine approach with sodium channel blockers in neonates with KCNQ2 mutations.
Assuntos
Ondas Encefálicas , Encéfalo/fisiopatologia , Eletroencefalografia , Doenças do Recém-Nascido/genética , Canal de Potássio KCNQ2/genética , Mutação , Convulsões/genética , Anticonvulsivantes/uso terapêutico , Encéfalo/efeitos dos fármacos , Ondas Encefálicas/efeitos dos fármacos , Carbamazepina/uso terapêutico , Análise Mutacional de DNA , Predisposição Genética para Doença , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/tratamento farmacológico , Doenças do Recém-Nascido/fisiopatologia , Países Baixos , Fenótipo , Portugal , Valor Preditivo dos Testes , Convulsões/diagnóstico , Convulsões/tratamento farmacológico , Convulsões/fisiopatologia , Resultado do TratamentoRESUMO
Loss of function of GPR56 causes a specific brain malformation called the bilateral frontoparietal polymicrogyria (BFPP), which has typical clinical and neuroradiological findings. So far, 35 families and 26 independent mutations have been described.We present a Portuguese 5-year-old boy, born from nonconsanguineous parents, with BFPP. This patient has a novel GPR56 mutation (R271X) and an unusual phenotype, because he presents hot water epilepsy.To the best of our knowledge, this is the first reported case of BFPP evolving hot water epilepsy.
Assuntos
Epilepsia/complicações , Malformações do Desenvolvimento Cortical/diagnóstico , Malformações do Desenvolvimento Cortical/genética , Receptores Acoplados a Proteínas G/genética , Encéfalo/patologia , Encéfalo/fisiopatologia , Pré-Escolar , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/genética , Humanos , Masculino , Malformações do Desenvolvimento Cortical/complicações , Mutação , FenótipoRESUMO
Benign focal epilepsy in childhood with centro-temporal spikes (BECTS) is one of the most common forms of idiopathic epilepsy, with onset from age 3 to 14 years. Although the prognosis for children with BECTS is excellent, some studies have revealed neuropsychological deficits in many domains, including language. Auditory event-related potentials (AERPs) reflect activation of different neuronal populations and are suggested to contribute to the evaluation of auditory discrimination (N1), attention allocation and phonological categorization (N2), and echoic memory (mismatch negativity--MMN). The scarce existing literature about this theme motivated the present study, which aims to investigate and document the existing AERP changes in a group of children with BECTS. AERPs were recorded, during the day, to pure and vocal tones and in a conventional auditory oddball paradigm in five children with BECTS (aged 8-12; mean=10 years; male=5) and in six gender and age-matched controls. Results revealed high amplitude of AERPs for the group of children with BECTS with a slight latency delay more pronounced in fronto-central electrodes. Children with BECTS may have abnormal central auditory processing, reflected by electrophysiological measures such as AERPs. In advance, AERPs seem a good tool to detect and reliably reveal cortical excitability in children with typical BECTS.
Assuntos
Percepção Auditiva/fisiologia , Encéfalo/fisiopatologia , Epilepsia Rolândica/fisiopatologia , Potenciais Evocados Auditivos , Estimulação Acústica , Adolescente , Criança , Eletroencefalografia , Feminino , Humanos , Masculino , Acústica da FalaRESUMO
En este texto se discute el Informe de la Organización Mundial de la Salud para 2000 y se analiza la metodología utilizada para comparar y clasificar el desempeño de los sistemas de salud de los 191 países miembros. Las principales conclusiones están referidas a la utilización de metodologías de evaluación científicamente cuestionables; a la implementación de indicadores que no evalúan el desempeño de los sistemas de salud sino que expresan las desigualdades socioeconómicas existentes; a la ausencia de datos en la mayoría de los países para el cálculo de los indicadores y a la falta de transparencia en los procedimientos adoptados para el cálculo de algunos indicadores.
In this paper the year 2000 report from the World Health Organization is discussed and the methodology for comparing and classifying the performance of the health systems of the 191 member countries is analyzed. The main conclusions refer to the use of methodologies which are scientifically questionable, to the implementation of indicators which do not evaluate the performance of health systems but rather reveal the existing socio-economic inequalities, to the absence of necessary data for calculating the indicators in the majority of countries, and to the lack of transparency in the procedures adopted for calculating some indicators.
