Childhood absence epilepsy (CAE) accounts for 10% to 12% of epilepsy in children under 16 years of age. We screened for mutations in the GABA(A) receptor (GABAR) beta 3 subunit gene (GABRB3) in 48 probands and families with remitting CAE. We found that four out of 48 families (8%) had mutations in GABRB3. One heterozygous missense mutation (P11S) in exon 1a segregated with four CAE-affected persons in one multiplex, two-generation Mexican family. P11S was also found in a singleton from Mexico. Another heterozygous missense mutation (S15F) was present in a singleton from Honduras. An exon 2 heterozygous missense mutation (G32R) was present in two CAE-affected persons and two persons affected with EEG-recorded spike and/or sharp wave in a two-generation Honduran family. All mutations were absent in 630 controls. We studied functions and possible pathogenicity by expressing mutations in HeLa cells with the use of Western blots and an in vitro translation and translocation system. Expression levels did not differ from those of controls, but all mutations showed hyperglycosylation in the in vitro translation and translocation system with canine microsomes. Functional analysis of human GABA(A) receptors (alpha 1 beta 3-v2 gamma 2S, alpha 1 beta 3-v2[P11S]gamma 2S, alpha 1 beta 3-v2[S15F]gamma 2S, and alpha 1 beta 3-v2[G32R]gamma 2S) transiently expressed in HEK293T cells with the use of rapid agonist application showed that each amino acid transversion in the beta 3-v2 subunit (P11S, S15F, and G32R) reduced GABA-evoked current density from whole cells. Mutated beta 3 subunit protein could thus cause absence seizures through a gain in glycosylation of mutated exon 1a and exon 2, affecting maturation and trafficking of GABAR from endoplasmic reticulum to cell surface and resulting in reduced GABA-evoked currents.

The 2001 classification subcommittee of the International League Against Epilepsy (ILAE) proposed to 'group JME, juvenile absence epilepsy, and epilepsy with tonic clonic seizures only under the sole heading of idiopathic generalized epilepsies (IGE) with variable phenotype'. The implication is that juvenile myoclonic epilepsy (JME) does not exist as the sole phenotype of family members and that it should no longer be classified by itself or considered a distinct disease entity. Although recognized as a common form of epilepsy and presumed to be a lifelong trait, a long-term follow-up of JME has not been performed. To address these two issues, we studied 257 prospectively ascertained JME patients and encountered four groups: (i) classic JME (72%), (ii) CAE (childhood absence epilepsy) evolving to JME (18%), (iii) JME with adolescent absence (7%), and (iv) JME with astatic seizures (3%). We examined clinical and EEG phenotypes of family members and assessed clinical course over a mean of 11 +/- 6 years and as long as 52 years. Forty per cent of JME families had JME as their sole clinical phenotype. Amongst relatives of classic JME families, JME was most common (40%) followed by grand mal (GM) only (35%). In contrast, 66% of families with CAE evolving to JME expressed the various phenotypes of IGE in family members. Absence seizures were more common in family members of CAE evolving to JME than in those of classic JME families (P < 0.001). Female preponderance, maternal transmission and poor response to treatment further characterized CAE evolving to JME. Only 7% of those with CAE evolving to JME were seizure-free compared with 58% of those with classic JME (P < 0.001), 56% with JME plus adolescent pyknoleptic absence and 62% with JME plus astatic seizures. Long-term follow-up (1-40 years for classic JME; 5-52 years for CAE evolving to JME, 5-26 years for JME with adolescent absence and 3-18 years for JME with astatic seizures) indicates that all subsyndromes are chronic and perhaps lifelong. Seven chromosome loci, three epilepsy-causing mutations and two genes with single nucleotide polymorphisms (SNPs) associating with JME reported in literature provide further evidence for JME as a distinct group of diseases.

This study aims to analyze the educational practices in the professional training of university students regarding violence against women.This descriptive, exploratory study utilized a qualitative approach, addressing eight university students from a public institution. The study used a semi-structured interview, and the statements were recorded and transcribed in full. Data analysis was conducted through content analysis. It was observed that most students said they had not studied violence in undergraduate programs.By enabling the development of skills to deal with abused women, the educational practices of the extension project are significant to the learning process, contributing to academic and professional development, despite the difficulties encountered during these activities. Therefore, it is concluded that academics and professionals should be trained in a multidisciplinary way to work within the community in the care of victims of violence. Keywords: Women's health. Violence against women. Education, higher. Health education. Health promotion. Resumo Práticas educativas sobre violência contra a mulher na formação de universitáriosObjetivou-se analisar as práticas educativas sobre violência contra a mulher na formação profissional de estudantes universitários. Trata-se de estudo descritivo, exploratório, com abordagem qualitativa, que incluiu oito estudantes universitários de uma instituição pública. Utilizou-se entrevista semiestruturada, e os depoimentos foram gravados e transcritos na íntegra. O tratamento dos dados se deu por meio da análise de conteúdo. A maioria dos acadêmicos afirmou não ter estudado violência nos cursos de graduação. Por permitirem o desenvolvimento de habilidades para lidar com mulheres violentadas, as práticas educativas do projeto de extensão são significativas para seu aprendizado, contribuindo para a formação acadêmica e profissional, apesar das dificuldades vivenciadas no decorrer dessas atividades. Depreende-se, então, que se deve capacitar acadêmicos e profissionais de forma multidisciplinar para atuar no atendimento a vítimas de violência na comunidade. Palavras-chave: Saúde da mulher. Violência contra a mulher. Educação superior. Educação em saúde. Promoção da saúde. ResumenPrácticas educativas sobre la violencia contra la mujer en la formación de universitarios El objetivo fue analizar las prácticas educativas sobre violencia contra la mujer en la formación profesional de universitarios. Se trata de un estudio descriptivo, exploratorio, con abordaje cualitativo, que incluyó ocho estudiantes universitarios de una institución pública. Se utilizó una entrevista semi-estructurada, siendo los testimonios grabados y transcritos de manera completa. Los datos fueron analizados por medio del Análisis de Contenido. La mayoría de los académicos manifestó no haber estudiado violencia durante la carrera. Puesto que permitieron el desarrollo de habilidades para tratar con mujeres violentadas, las prácticas educativas del proyecto de extensión fueron significativas para su...

Objective To prepare an instrument to evaluate health literacy with regard to adherence to drug treatment among diabetics, identify the validity of its content, and estimate its reliability. Methods Pilot study, with the following stages of instrument construction: literature review, content validation, reliability estimation (internal consistency/Cronbach’s alpha and reproducibility/Kappa). Results The validity of content was completed and presented alpha=0.77 and Kappa values ranged from 0.31 to 1.00. Conclusion The instrument was approved regarding content validity, presented acceptable internal consistency and reproducibility. However, when applied, measurement errors it can produce must be considered.

Objetivos: conhecer a atuação do enfermeiro e os cuidados desempenhados em saúde mental na Estratégia de Saúde da Família. Método: estudo descritivo e qualitativo, tendo como cenário um polo de matriciamento em saúde mental. A coleta de dados foi realizada por meio de entrevista individual, com questionário semiestruturado. Resultados: os resultados obtidos foram agrupados e discutidos por meio das seguintes categorias: ações de enfermagem no campo da saúde mental desenvolvidas na Estratégia de Saúde da Família e apoio matricial em Saúde Mental como elemento facilitador da prática de enfermagem. Conclusão: os enfermeiros têm desenvolvido ações de enfermagem no campo da saúde mental na Estratégia de Saúde da Família, e o apoio matricial atua como principal elemento facilitador da prática de enfermagem, reafirmando a Reforma Psiquiátrica Brasileira. Em contrapartida, a sobrecarga de ações e a restrita formação em saúde mental são elementos que dificultam o trabalho desse profissional.