Using whole exome sequencing, Fassio et al. identify de novo mutations in ATP6V1A, encoding the A subunit of v-ATPase, in four patients with developmental encephalopathies and epilepsy. Functional and expression studies demonstrate impaired lysosomal homeostasis, defective neurite elongation and loss of excitatory inputs in cultured neurons.
ResumoObjetivo: Verificar a existência de associação entre vitimização e uso de álcool entre meninos e meninas de Porto Alegre (RS).Métodos: Foi realizado um estudo transversal. Participaram estudantes de escolas públicas com idade entre 10 e 19 anos, da 5ª série do ensino fundamental até a 3ª série do ensino médio, compondo amostra por conglomerados em dois estágios, definidas pelas características socioeconômicas do bairro da escola e pela turma. A coleta de dados foi realizada por questionário padronizado de forma anônima e voluntária.Resultados: O álcool foi utilizado por 54% dos meninos adolescentes (14-19) e 17% dos adolescentes (10-13), por 58% das meninas adolescentes mais velhas e 19% das adolescentes mais novas. Cinqüenta e sete por cento dos estudantes sofreram vitimização severa, e 53% sofreram vitimização moderada. Quando as amostras separadas por sexos foram avaliadas, observou-se que meninos e meninas que faziam uso de álcool relataram 2,6 e 1,8, respectivamente, mais vitimização grave, ao passo que o uso de álcool entre meninos e meninas se associou a 3,1 e 2,5 mais prevalência de vitimização moderada, respectivamente. Para os episódios de embriaguez, observou-se que adolescentes se embriagaram mais que pré-adolescentes e que as exposições à violência mostraram associação aumentada para embriaguez. Um percentual de 32% de meninos (razão de prevalência, RP = 4,4; IC95% 2,6-7,3) e 22% de meninas (RP = 2,2; IC95% 1,2-4,1) vítimas de violência severa relatou embriaguez pelo menos uma vez. Conclusões:Adolescentes de ambos os sexos que consomem mais bebidas alcoólicas têm maior risco de sofrerem violência comunitária.J Pediatr (Rio J). 2008;84(3):244-250: Violência comunitária, álcool, adolescentes. AbstractObjective: To verify whether there is an association between victimization and alcohol use among boys and girls in Porto Alegre, RS, Brazil.Methods: This was a cross-sectional study of students from public schools, aged 10 to 19 years, from the fifth grade of primary education to the third grade of secondary education, selected by two-stage cluster sampling, defined by the socioeconomic characteristics of the neighborhood in which each school is located and by school class. Data collection was by means of a questionnaire which was completed anonymously and voluntarily.Results: Fifty-four percent of the older adolescent boys (aged 14-19) drank alcohol, compared to 17% of the younger adolescent boys (10-13), as did 58% of the older adolescent girls and 19% of the younger adolescent girls. Fifty-seven percent of the students had suffered severe victimization, and 53% had suffered moderate victimization. When the samples were separated by sex, it was observed that boys and girls who drank alcohol reported 2.6 and 1.8 times more severe victimization respectively, while alcohol was associated with 3.1 and 2.5 times greater prevalence of moderate victimization, among boys and girls respectively. When episodes of drunkenness were analyzed, it was observed that adolescents got drunk more than pre-adolescents...
Objective: To verify whether there is an association between victimization and alcohol use among boys and girls in Porto Alegre, RS, Brazil. Methods: This was a cross-sectional study of students from public schools, aged 10 to 19 years, from the fifth grade of primary education to the third grade of secondary education, selected by two-stage cluster sampling, defined by the socioeconomic characteristics of the neighborhood in which each school is located and by school class. Data collection was by means of a questionnaire which was completed anonymously and voluntarily. Results: Fifty-four percent of the older adolescent boys (aged 14-19) drank alcohol, compared to 17% of the younger adolescent boys (10-13), as did 58% of the older adolescent girls and 19% of the younger adolescent girls. Fifty-seven percent of the students had suffered severe victimization, and 53% had suffered moderate victimization. When the samples were separated by sex, it was observed that boys and girls who drank alcohol reported 2.6 and 1.8 times more severe victimization respectively, while alcohol was associated with 3.1 and 2.5 times greater prevalence of moderate victimization, among boys and girls respectively. When episodes of drunkenness were analyzed, it was observed that adolescents got drunk more than pre-adolescents and that exposure to violence exhibited an increased association with drunkenness. Thirty-two percent of the boys (prevalence ratio, PR = 4.4; 95%CI 2.6-7.3) and 22% of the girls (PR = 2.2; 95%CI 1.2-4.1) who had been the victims of severe violence reported being drunk at least once. Conclusions: Adolescents of both sexes who consume more alcohol are at greater risk of suffering community violence.
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