Frequency Of The Allelic Variant C.1150t > C In Exon 10 Of The Fibroblast Growth Factor Receptor 3 (fgfr3) Gene Is Not Increased In Patients With Pathogenic Mutations And Related Chondrodysplasia Phenotypes.

Mutations in the FGFR3 gene cause the phenotypic spectrum of FGFR3 chondrodysplasias ranging from lethal forms to the milder phenotype seen in hypochondroplasia (Hch). The p.N540K mutation in the FGFR3 gene occurs in ∼70% of individuals with Hch, and nearly 30% of individuals with the Hch phenotype have no mutations in the FGFR3, which suggests genetic heterogeneity. The identification of a severe case of Hch associated with the typical mutation c.1620C > A and the occurrence of a c.1150T > C change that resulted in a p.F384L in exon 10, together with the suspicion that this second change could be a modulator of the phenotype, prompted us to investigate this hypothesis in a cohort of patients. An analysis of 48 patients with FGFR3 chondrodysplasia phenotypes and 330 healthy (control) individuals revealed no significant difference in the frequency of the C allele at the c.1150 position (p = 0.34). One patient carrying the combination `pathogenic mutation plus the allelic variant c.1150T > C' had a typical achondroplasia (Ach) phenotype. In addition, three other patients with atypical phenotypes showed no association with the allelic variant. Together, these results do not support the hypothesis of a modulatory role for the c.1150T > C change in the FGFR3 gene.

The Role Of Edaphic Environment And Climate In Structuring Phylogenetic Pattern In Seasonally Dry Tropical Plant Communities.

Seasonally dry tropical plant formations (SDTF) are likely to exhibit phylogenetic clustering owing to niche conservatism driven by a strong environmental filter (water stress), but heterogeneous edaphic environments and life histories may result in heterogeneity in degree of phylogenetic clustering. We investigated phylogenetic patterns across ecological gradients related to water availability (edaphic environment and climate) in the Caatinga, a SDTF in Brazil. Caatinga is characterized by semiarid climate and three distinct edaphic environments - sedimentary, crystalline, and inselberg -representing a decreasing gradient in soil water availability. We used two measures of phylogenetic diversity: Net Relatedness Index based on the entire phylogeny among species present in a site, reflecting long-term diversification; and Nearest Taxon Index based on the tips of the phylogeny, reflecting more recent diversification. We also evaluated woody species in contrast to herbaceous species. The main climatic variable influencing phylogenetic pattern was precipitation in the driest quarter, particularly for herbaceous species, suggesting that environmental filtering related to minimal periods of precipitation is an important driver of Caatinga biodiversity, as one might expect for a SDTF. Woody species tended to show phylogenetic clustering whereas herbaceous species tended towards phylogenetic overdispersion. We also found phylogenetic clustering in two edaphic environments (sedimentary and crystalline) in contrast to phylogenetic overdispersion in the third (inselberg). We conclude that while niche conservatism is evident in phylogenetic clustering in the Caatinga, this is not a universal pattern likely due to heterogeneity in the degree of realized environmental filtering across edaphic environments. Thus, SDTF, in spite of a strong shared environmental filter, are potentially heterogeneous in phylogenetic structuring. Our results support the need for scientifically informed conservation strategies in the Caatinga and other SDTF regions that have not previously been prioritized for conservation in order to take into account this heterogeneity.

Programas de educação de jovens e adultos e pesquisa acadêmica: a contribuição dos estudos do letramento

The purpose of this article is to introduce elements that allow building an interface between the academic research and the programs of basic education for youngsters and adults. It discusses contributions to these programs that can be found in the results of qualitative research studies. To this end, results of a five-year long project on teacher education are used, which aim was that of analyzing the interaction between teacher and student in youngster and adult literacy classes. The research project was conducted in natural contexts with the purpose of understanding a given social reality, and not of establishing general laws. Therefore, the credibility of its results was built through the observation of multiple contexts, and the gathering of data was made through various methods, from the perspective of several participants observed during a prolonged period of time. This empirical basis was used to evaluate recommendations contained in the report commissioned by Unesco to the International Literacy Institute for presentation at the World Forum on Education held in 2000 in Dakar. This report proposed that the continuous attendance of students to basic education programs is one of the great challenges of the new millennium. With respect to the problem of adult evasion from courses and programs, the article discusses the motivation and accessibility factors, pointed out in official documents as relevant factors to the success or failure of the programs.

O ambiente virtual de aprendizagem e sua incorporação na Unicamp

The text describes a study about the adoption of virtual learning environments and its consequences to the learning process of undergraduate students at the State University of Campinas - Unicamp. These environments can be incorporated in various ways into the academic daily life of students and teachers. One efficient way to promote the adoption of these environments, as observed by the Distance Learning support team, is to train teachers and students in their use. Two training alternatives are described in this text to instruct the academic community in the use of TelEduc, a freeware developed and coordinated by the NIED - Núcleo de Informática Aplicada à Educação (Center for Information Technology Applied to Education), and officially adopted by Unicamp. Training courses are offered in two ways - presence or distance learning - to suit each teacher's preferences. This article compares the two modes of training, showing their strong and weak points. The adoption of TelEduc and its direct consequences to the learning process are described in a study carried out with some engineering undergraduates at Unicamp. The authors' questions and the general views of teachers and students regarding the effectiveness of the use of TelEduc as a supporting tool to presence teaching are presented. This investigation revealed the importance of training teachers in the effective use of these environments.

Utilização de recursos ópticos e equipamentos por escolares com deficiência visual

PURPOSE: To verify perceptions and conduct of students with visual impairment regarding devices and equipment utilized in schooling process. METHODS: A transversal descriptive study on a population of 12-year-old or older students in schooling process, affected by congenital or acquired visual impairment, inserted in the government teaching system of Campinas during the year 2000. An interview quiz, created based on an exploratory study was applied. RESULTS: A group of 26 students, 46% of them with low vision and 53.8% affected by blindness was obtained. Most of the students were from fundamental teaching courses (65.4%), studying in schools with classrooms provided with devices (73.1%). Among the resources used in reading and writing activities, 94.1% of the students reported they used the Braille system and 81.8% reported that the reading subject was dictated by a colleague. Most of the students with low vision wore glasses (91.7%), and 33.3% utilized a magnifying glass as optical devices. Among the non-optical devices, the most common were the environmental ones, getting closer to the blackboard (75.0%) and to the window (66.7%) for better lighting. CONCLUSIONS: It became evident that students with low vision eye-sight made use of devices meant for bearers of blindness, such as applying the Braille system. A reduced number of low vision students making use of optical and non-optical devices applicable to their problems were observed, indicating a probable unawareness of their visual potential and the appropriate devices to improve efficiency.

30 anos do Colégio Brasileiro de Ciências do Esporte : educação física e a construção de uma hegemonia

Universidade Estadual de Campinas . Faculdade de Educação Física

Classificação das tendencias da educação fisica : uma abordagem filosofica-educacional e ideologica

Universidade Estadual de Campinas . Faculdade de Educação Física

Da busca pela natureza aos ambientes artificiais : reflexões sobre a escalada esportiva

Universidade Estadual de Campinas . Faculdade de Educação Física