5 resultados para História da genética

em Repositório da Produção Científica e Intelectual da Unicamp


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OBJECTIVE: To investigate the clinical and genetic characteristics of familial partial epilepsies. METHOD: Family history of seizures was questioned in all patients followed in our epilepsy clinics, from October 1997 to December 1998. Those with positive family history were further investigated and detailed pedigrees were obtained. All possibly affected individuals available underwent clinical evaluation. Seizures and epilepsy syndromes were classified according to the ILAE recommendations. Whenever possible, EEG and MRI were performed. RESULTS: Positive family history was identified in 32 unrelated patients. A total of 213 possibly affected individuals were identified, 161 of whom have been evaluated. The number of affected subjects per family ranged from two to 23. Temporal lobe epilepsy (TLE) was identified in 22 families (68%), frontal lobe epilepsy in one family (3%), partial epilepsy with centrotemporal spikes in five families (15%), and other benign partial epilepsies of childhood in four families (12%). Most of the affected individuals in the TLE families (69%) had clinical and/or EEG characteristics of typical TLE. However, the severity of epilepsy was variable, with 76% of patients with spontaneous seizure remission or good control with medication and 24% with refractory seizures, including 7 patients that underwent surgical treatment. In the other 10 families, we identified 39 possibly affected subjects, 23 of whom were evaluated. All had good seizure control (with or without medication) except for one patient with frontal lobe epilepsy. Pedigree analysis suggested autosomal dominant inheritance with incomplete penetrance in all families. CONCLUSION: Family history of seizures is frequent among patients with partial epilepsies. The majority of our families had TLE and its expression was not different from that observed in sporadic cases. The identification of genes involved in partial epilepsies may be usefull in classification of syndromes, to stablish prognosis and optimal treatment.

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The first days of radioactivity, the discoveries of X-rays, radioactivity, of alpha- and beta- particles and gamma- radiation, of new radioactive elements, of artificial radioactivity, the neutron and positron and nuclear fission are reviewed as well as several adverse historical marks, such as the Manhattan project and some nuclear and radiological accidents. Nuclear energy generation in Brazil and the world, as an alternative to minimize environmental problems, is discussed, as are the medicinal, industrial and food applications of ionizing radiation. The text leads the reader to reflect on the subject and to consider its various aspects with scientific and technological maturity.

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We present and discuss in this article some features of a research program whose central object of investigation is the way in which the recent fields of history, philosophy, and sociology of mathematical education could take part in a critical and qualified manner in the initial and continuing training of teachers in this area. For that, we endorse the viewpoint that the courses for mathematics teacher education should be based on a conception of specificity through which a new pedagogical project could be established. In such project those new fields of investigation would participate, in an organic and clarifying way, in the constitution of multidimensional problematizations of school practices, in which mathematics would be involved, and that would be guided by academic investigations about the issues that currently challenge teachers in the critical work of incorporation, resignification, production, and transmission of mathematical culture in the context of the school institution.

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Universidade Estadual de Campinas . Faculdade de Educação Física

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Universidade Estadual de Campinas. Faculdade de Educação Física