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Orientador: Sírio Possenti Dissertação (mestrado) - Universidade Estadual de Campinas, Instituto de Estudos da Linguagem Resumo: O objetivo central deste trabalho é a análise de um corpus constituído por um conjunto de "piadas de Joãozinho". Neste material, queremos avaliar, tendo como base teórica a Análise do Discurso francesa, quais são suas condições de produção, procurando compreender as razões histórico-sociais e a representação masculina estereotipada nesse material. A finalidade dessa análise é verificar a ideologia machista presente nas piadas de Joãozinho: a construção da masculinidade a partir da transgressão de regras sociais. O que nos parece relevante neste tema são as seguintes questões: "Por que se faz humor sobre a relação entre professor e aluno?"; "Por que nessas piadas os meninos são postos como maus alunos?"; "Por que nesse discurso o professor é ridicularizado?"; "Em que medida o que se fala nas piadas representa 'verdades'?"; "Quais são os gatilhos linguísticos que tornam essas questões motivo de riso?". Na tentativa de elucidar as questões acima apresentadas, nosso arcabouço teórico é constituído principalmente pela literatura sobre o humor (Freud, 1905; Bergson, 1900; Propp, 1976; Raskin, 1985; Bakhtin, 1987; e Possenti, 1998), sobre a escola (Carvalho 2001, 2003; Menandro e Souza, 2010) e, especialmente, a literatura sobre os homens (Nolasco, 1993, 1995; Bourdieu, 2009). E as bases da análise são sustentadas pela Análise do Discurso francesa, especialmente no que se refere aos conceitos relativos às condições de produção, estereotipia, ethos, simulacro, memória discursiva. O ponto de partida para a análise é compreender o funcionamento do discurso humorístico, e a partir disso desconstruir o imaginário social predominante de que as piadas de Joãozinho são produzidas ingenuamente por crianças com o propósito de provocar espanto nos adultos. Posteriormente, buscaremos mostrar que as piadas de Joãozinho são feitas sob o simulacro de vozes infantis e são resultado de condições históricas de disputa na relação dos alunos com a escola e fruto da tentativa de os meninos (re)afirmarem sua masculinidade. Objetivamos, portanto, evidenciar que a partir dessa tensão entre aluno e escola e a (má) conduta dos meninos são criados estereótipos que são posteriormente postos em circulação pelo discurso humorístico por meio de uma técnica linguística Abstract: The aim of this paper is the analysis of a corpus consisting of a set of "little Johnny jokes". In this material, we want to evaluate, based on theoretical Discourse Analysis French, what are their conditions of production, seeking to understand the historical and social reasons and stereotypical male representation in this material. The purpose of this analysis is to examine the ideology present in sexist in little Johnny jokes: the construction of masculinity from the transgression of social rules. What seem relevant in this theme are the following questions: "Why does humor about the relationship between teacher and student?"; "Why do these boys are made jokes and bad students?"; "Why this discourse the teacher is ridiculed?"; "To what extent the talk of the jokes is 'truth'?"; "What are the linguistic triggers that make these issues a laughingstock?". In an attempt to elucidate the issues outlined above, our theoretical framework is mainly the literature on mood (Freud, 1905; Bergson, 1900; Propp, 1976; Raskin, 1985; Bakhtin, 1987, and Possenti, 1998), about the school (Carvalho 2001, 2003 and Menandro e Souza, 2010) and especially the literature on men (Nolasco, 1993, 1995; Bourdieu, 2009). And the foundations of analysis are supported by the French Discourse Analysis, especially with regard to concepts related to the production conditions, stereotypy, ethos, simulacrum, discursive memory. The starting point for analysis is to understand the functioning of the humorous speech, and from that to deconstruct the dominant social imaginary that little Johnny jokes are naively produced by children for the purpose of causing terror in adults. Subsequently, we try to show that little Johnny jokes are made under the pretense of voices and children are the result of historical conditions of competition in respect of pupils with the school and the fruit of the boys attempt to (re) assert their masculinity. Our objective, therefore, evident that from this tension between student and school and (bad) conduct of the boys is created stereotypes that are subsequently put into circulation by the humorous speech by means of a technical language Mestrado Lingüística Mestre em Linguística

Background and ObjectivesPurine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. The aim of this study was to define and expand the phenotypic spectrum of PURA syndrome by collecting data, including EEG, from a large cohort of affected patients.MethodsData on unpublished and published cases were collected through the PURA Syndrome Foundation and the literature. Data on clinical, genetic, neuroimaging, and neurophysiologic features were obtained.ResultsA cohort of 142 patients was included. Characteristics of the PURA syndrome included neonatal hypotonia, feeding difficulties, and respiratory distress. Sixty percent of the patients developed epilepsy with myoclonic, generalized tonic-clonic, focal seizures, and/or epileptic spasms. EEG showed generalized, multifocal, or focal epileptic abnormalities. Lennox-Gastaut was the most common epilepsy syndrome. Drug refractoriness was common: 33.3% achieved seizure freedom. We found 97 pathogenic variants in PURA without any clear genotype-phenotype associations.DiscussionThe PURA syndrome presents with a developmental and epileptic encephalopathy with characteristics recognizable from neonatal age, which should prompt genetic screening. Sixty percent have drug-resistant epilepsy with focal or generalized seizures. We collected more than 90 pathogenic variants without observing overt genotype-phenotype associations.