Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients

Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes. Another related disease, dentatorubropallidoluysian atrophy (DRPLA) is also caused by an unstable triplet repeat and can present as SCA in late onset patients. We investigated the frequency of the SCA1, SCA2, MJD/SCA3 and DRPLA mutations in 328 Brazilian patients with SCA, belonging to 90 unrelated families with various patterns of inheritance and originating in different geographic regions of Brazil. We found mutations in 35 families (39%), 32 of them with a clear autosomal dominant inheritance. The frequency of the SCA1 mutation was 3% of all patients; and 6 % in the dominantly inherited SCAs. We identified the SCA2 mutation in 6% of all families and in 9% of the families with autosomal dominant inheritance. The MJD/SCA3 mutation was detected in 30 % of all patients; and in the 44% of the dominantly inherited cases. We found no DRPLA mutation. In addition, we observed variability in the frequency of the different mutations according to geographic origin of the patients, which is probably related to the distinct colonization of different parts of Brazil. These results suggest that SCA may be occasionally caused by the SCA1 and SCA2 mutations in the Brazilian population, and that the MJD/SCA3 mutation is the most common cause of dominantly inherited SCA in Brazil.

Análise de aspectos socioeconômicos e tecnológicos da agropecuária na Bacia Hidrográfica do Rio Mogi Guaçu

Currently, owing to the occurrence of environmental problems, along with the need of environmental preservation, both the territory management of Hydrographic Basin and the conservation of natural resources have proven to have remarkable importance. Thus, the mean goal of the research is to raise and scrutinize social-economic and technologic data from the Mogi Guaçu River Hydrographic Basin (São Paulo, Brazil). The aim is to group municipalities with similar characteristics regarding the collected data, which may direct joint actions in the Hydrographic Basin Management. There were used both the methods of factorial analysis and automatic hierarchical classifications. Additionally, there is going to be applied a Geographical Information System to represent the outcomes of the methods aforementioned, through the evolvement of a geo-referenced database, which will allow the obtainment of information categorically distributed including theme maps of interest. The main characteristics adopted to group the municipalities were: agricultural area, sugar cane production, small farms, animal production, number of agriculture machinery and equipments and agricultural income. The methodology adopted in the Mogi Guaçu River Hydrographic Basin will be analyzed vis-à-vis its appropriateness on basin management, as well as the possibility of assisting the studies on behalf of the São Paulo Hydrographic Basin groups, to regional development.

Flora arbórea da bacia do rio Tibagi (Paraná, Brasil): Celastrales sensu Cronquist

A study of the tree species of the order Celastrales sensu Cronquist from the Tibagi river basin, Paraná state, Brazil, is presented, based on herbarium material. This basin is subdivided into three zones, from north to south: lower Tibagi (BT), mid Tibagi (MT) and upper Tibagi (AT), each with different environmental conditions and vegetation types. The order Celastrales is represented in the basin by 15 tree species belonging to three families: Aquifoliaceae, Celastraceae and Icacinaceae. Icacinaceae has only two species, Citronella gongonha and C. paniculata. The former is distinguished by a glabrous ovary and leaves that usually bear thorns. Aquifoliaceae has six species: Ilex brasiliensis, I. brevicuspis, I. chamaedryfolia, I. dumosa, I. paraguariensis and I. theezans. These species are found mainly in AT and MT and are distinguished by leaf size, indument, apices and margins, and by sepal features. Celastrales is represented by seven species and two genera; Plenckia populnea, a Brazilian savannah species found only in MT, and six species of Maytenus (M. evonymoides, M. robusta, M. dasyclada, M. salicifolia, M. ilicifolia and M. aquifolia) distinguished by leaf size and margins, branch shape and number of flowers per inflorescence.

Os contrastes do ambiente urbano : espaço vazio e espaço de lazer

Universidade Estadual de Campinas. Faculdade de Educação Física

Efeito de diferentes protocolos de treinamento sobre o risco cardiovascular global = : Effects of different training programs on global cardiovascular risk

Universidade Estadual de Campinas . Faculdade de Educação Física

Ciclimo de velocidade : uma proposta de controle da preparação fisica especial

Universidade Estadual de Campinas . Faculdade de Educação Física

Atividade diaria e (in)atividade fisica na sociedade indigena Terena : Aldeias Buriti e Corrego do Meio

Universidade Estadual de Campinas . Faculdade de Educação Física