Molecular diagnosis of Huntington disease in Brazilian patients

Huntington disease (HD) is a progressive neurodegenerative disorder with autosomal dominant inheritance, characterized by choreiform movements and cognitive impairment. Onset of symptoms is around 40 years of age and progression to death occurs in approximately 10 to 15 years from the time of disease onset. HD is associated with an unstable CAG repeat expansion at the 5' and of the IT15 gene. We have genotyped the CAG repeat in the IT15 gene in 44 Brazilian individuals (42 patients and 2 unaffected family members) belonging to 34 unrelated families thought to segregate HD. We found one expanded CAG allele in 32 individuals (76%) belonging to 25 unrelated families. In these HD patients, expanded alleles varied from 43 to 73 CAG units and normal alleles varied from 18 to 26 CAGs. A significant negative correlation between age at onset of symptoms and size of the expanded CAG allele was found (r=0.6; p=0.0001); however, the size of the expanded CAG repeat could explain only about 40% of the variability in age at onset (r2=0.4). In addition, we genotyped 25 unrelated control individuals (total of 50 alleles) and found normal CAG repeats varying from 16 to 33 units. The percentage of heterozigocity of the normal allele in the control population was 88%. In conclusion, our results showed that not all patients with the HD phenotype carried the expansion at the IT15 gene. Furthermore, molecular diagnosis was possible in all individuals, since no alleles of intermediate size were found. Therefore, molecular confirmation of the clinical diagnosis in HD should be sought in all suspected patients, making it possible for adequate genetic counseling.

Qualidade de vida em epilepsia e percepção de controle de crises

The individual affective-cognitive evaluations are important factors that control the way he feels the disease impact in his life. Then, the perception of seizure control is a more important factor to evaluate Quality of Life (QoL) than the illness characteristics, such as the severity, type, sickening period and seizure frequency. This study searched for the relationship among the subjective variables (perception of seizure control) and the illness characteristics to evaluate QoL. The sample consisted of 60 individuals with chronic epilepsy, aging 18 to 70 (M=37.05; SD=11.25), chosen at randon from the ambulatory of epilepsy - HC/UNICAMP, by the Questionnaire 65. The illness characteristics were not significant, except the seizures frequency, when associated to the impairment in QoL among controlled seizures and seizures with frequency higher than 10 per month (p=0.021). The perception of control was significantly associated to QoL (p=0.005).

FORMAÇÕES DISCURSIVAS E PROCESSOS IDENTIFICATÓRIOS NA AQUISIÇÃO DE LÍNGUAS

This paper discusses theoretical results of the research project Linguistic Identity and Identification: A Study of Functions of Second Language in Enunciating Subject Constitution. Non-cognitive factors that have a crucial incidence in the degree of success and ways of accomplishment of second language acquisition process are focused. A transdisciplinary perspective is adopted, mobilising categories from Discourse Analysis and Psychoanalysis. The most relevant ones are: discursive formation, intradiscourse, interdiscourse, forgetting n° 1, forgetting n° 2 (Pêcheux, 1982), identity, identification (Freud, 1966; Lacan, 1977; Nasio, 1995). Revuz s views (1991) are discussed. Her main claim is that during the process of learning a foreign language, the foundations of psychical structure, and consequently first language, are required. After examining how nomination and predication processes work in first and second languages, components of identity and identification processes are focused on, in an attempt to show how second language acquisition strategies depend on them. It is stated that methodological affairs of language teaching, learner s explicit motivation and the like are subordinated to the comprehension of deeper non-cognitive factors that determine the accomplishment of the second language acquisition process. It is also pointed out that those factors are to be approached, questioning the bipolar biological-social conception of subjectivity in the study of language acquisition and use and including in the analysis symbolic and significant dimensions of the discourse constitution process.

Hipotaxe e Gramaticalização: uma Análise das Construções de Tempo e de Condição

This paper studies complex sentences with temporal hypotatic clauses and with conditional hypotatic clauses in order to investigate the degree of grammaticalization shown by these two kinds of utterances. Our hypothesis is that the more the hypotatic clause is integrated to the nuclear clause, the greater is the degree of grammaticalization. Such degree of integration was measured according to three groups of factors, and the results show that, regarding two of the variables evaluated, the conditional clauses are the most integrated to their nucleus, but, in another rank of evaluation, the temporal clauses are the most integrated ones. Considering that this study is based on a functionalist view, the results may be interpreted according to the principle that there is a competition of motivations in the use of language, so that each utterance reflects the balance of such forces.

Intercompreensão de texto escrito por falantes nativos de português e de espanhol

The aim of this paper is to verify the level of text comprehension (reading and translation) in Portuguese, by native speakers of Spanish and vice-versa. The subjects are freshmen, from different fields (300 native speakers of Portuguese and 300 of Spanish), who have never studied the other language neither as a second (L2) nor as a foreign language (FL). The results show that, in each group of subjects, there is a high level of comprehension of the foreign language, which varies from 58% to 94%, depending on the context and on the lexical/semantic similarity (or difference) between the key-words in the texts used in this research.

Resonancias discursivas y cortesía en prácticas de lecto-escritura

In this paper we present a study of reading comprehension based on a contrastive argumentative-discursive approach. We examine the relationship between linguistic materiality and discursive processes, observing the connection between reading in a foreign language, writing production and textual memories in the mother tongue. In addition to an interest in practical language teaching and learning processes (in this case of Spanish and Portuguese), we investigate the question of politeness and the theoretical relationship between subjectivity, language, and textuality. The latter, being understood as the result of discourse regularities, is unique for each and every production, yet is also conditioned by plural discursive memories resulting from contradictory social relationships in a specific historical context (Foucault, 1986; Pêcheux, 1990). In the experiment presented here, we follow some of the procedures of the methodology applied in the European Galatea Project developed for the study of reading strategies in the inter-comprehension between Romance languages (Dabène, 1996). We use the procedure of simulation and the subjective projection of participants as well as the notion of discursive resonance in the analysis. The results, having to do with directness and indirectness in speech and the question of politeness in two typologically close languages, lead to the conclusion that the concept of politeness goes beyond a pragmatic strategy used to avoid conflicts to be approached as a marker of cultural identity constitution. The relevance of discursive awareness and its theoretical and practical consequences are then emphasized.

Escola, democracia e a construção de personalidades morais

This article intends to discuss the relationship between morality, democracy and education within the perspective of the complex thinking, pointing to paths and proposals for its effective implementation in the educational routine, under the conviction that this is an imperative of the new social demands presented to the contemporary schooling. Understanding that one of the purposes of education is the ethical development, the author proposes intentional actions such that through them the school practices can offer to the subjects of education the necessary tools to build their cognitive, affective, cultural, and organic competence, thereby enabling them to act morally in the world. To that effect, seven aspects of school reality that hamper or contribute to school democratization are identified and discussed, which must be understood from the paradigm of complexity: school contents, classroom methodology, the nature of interpersonal relationships, the values, self-esteem and self-knowledge of the school community, as well as the school management processes.

Acões motrizes e representações sociais no jogo do laço no vale do Itabapoana

Universidade Estadual de Campinas . Faculdade de Educação Física

Da natureza do espaço ao espaço da natureza : reflexões sobre a relação corpo-natureza em parque publicos urbanos

Universidade Estadual de Campinas. Faculdade de Educação Física

Práticas corporais alternativas e educação física : entre a formação e a intervenção

Universidade Estadual de Campinas. Faculdade de Educação Física

Proposta de ensino de polybat para pessoas com paralisia cerebral

Universidade Estadual de Campinas . Faculdade de Educação Física

Inter-relações de turistas e moradores : um olhar atraves das manifestações corporais no Carnaval de Ouro Preto

Universidade Estadual de Campinas. Faculdade de Educação Física

A pratica do basquetebol feminino no estado de São Paulo : conhecendo e analisando seu contexto

Universidade Estadual de Campinas . Faculdade de Educação Física

No circuito dançante de São Caetano do Sul : juventude, liberdade e prazer no lazer noturno urbano

Universidade Estadual de Campinas . Faculdade de Educação Física

O processo de ensino dos jogos desportivos coletivos : um estudo acerca do basquetebol

Universidade Estadual de Campinas . Faculdade de Educação Física