51 resultados para arbre de duplication
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities, and/or developmental delay. We investigated a patient with a de novo X;19 translocation. The six-year-old girl has been evaluated due to hyperactivity, social interaction impairment, stereotypic and repetitive use of language with echolalia, failure to follow parents/caretakers orders, inconsolable outbursts, and persistent preoccupation with parts of objects. The girl has normal cognitive function. Her measurements are within normal range, and no other abnormalities were found during physical, neurological, or dysmorphological examinations. Conventional cytogenetic analysis showed a de novo balanced translocation, with the karyotype 46,X,t(X;19)(p21.2;q13.4). Replication banding showed a clear preference for inactivation of the normal X chromosome. The translocation was confirmed by FISH and Spectral Karyotyping (SKY). Although abnormal phenotypes associated with de novo balanced chromosomal rearrangements may be the result of disruption of a gene at one of the breakpoints, submicroscopic deletion or duplication, or a position effect, X; autosomal translocations are associated with additional unique risk factors including X-linked disorders, functional autosomal monosomy, or functional X chromosome disomy resulting from the complex X-inactivation process.
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Considering that the current pedagogical project for the Dentistry course at FOA-Unesp was structured in 2001, a year before the national resolution that introduced the new curricular guidelines for the dental field, the aim of this study was to analyze critically this document and assess the academic perception of the pedagogical project, as well as the current curricular structure. A previously tested and validated semi-structured questionnaire was used to obtain the needed information, and a documentary analysis was conducted. The questionnaire was drafted based on data from the National Curricular Guidelines (DCN) and Unified Health System (SUS) guidelines. The sample consisted of almost all the graduating students of 2007 (n = 61). Of these, 95% had no knowledge of the pedagogical project for the undergraduate course; 53% found the integration between the disciplines offered by the course insufficient; 66% pointed out that there was duplication of the revised contents; 41% said that the interdisciplinary relation was unsatisfactory, and 67.2% said they preferred the modular system of teaching. Furthermore, 55.7% of the students said that that the course does not fully cover the principles of completeness and resolution of actions, and 37.7% pointed out that clinical care was not humanized. As for the competence and skills needed to exercise the profession, the students admitted feeling secure about carrying out preventivecurative clinical actions, and feeling insecure about developing broad ranging actions, like managing and planning. Analysis of the documents showed a certain disagreement in the organization of the pedagogical project and the curricular structure, when confronted with the course of action set down by the National Curricular Guidelines. The data prove the urgent need to restructure the FOA-Unesp curriculum and confirm the importance of a continuous evaluation in higher education.
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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)