618 resultados para no duplication


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Pós-graduação em Matemática em Rede Nacional - IBILCE

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Avaliou-se o comprometimento funcional de pacientes com Charcot-Marie-Tooth provenientes da duplicação 17p11.2-p12 (CMT1A), utilizando o SF-36, que é um questionário para medir a qualidade de vida. Vinte e cinco pacientes de ambos os sexos com idades ≥10 anos e diagnóstico molecular de CMT1A foram selecionados. Idade, sexo, condições sociodemográficas e profissionais foram pareados com o Grupo Controle (sem histórico familiar de neuropatia). Os resultados mostraram que o maior impacto da CMT1A na qualidade de vida ocorreu nos domínios social e emocional dos pacientes avaliados. A capacidade funcional também tende a ser significativamente afetada, enquanto outros indicadores de deficiência física foram preservados. Por fim, os aspectos sociais e emocionais dos pacientes acometidos por CMT1A costumam ser negligenciados na assistência médica prestada aos pacientes brasileiros, e devem ser melhor compreendidos a fim de oferecer uma assistência global à saúde, resultando em adequada qualidade de vida.

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Teleost fish underwent whole-genome duplication around 450 Ma followed by diploidization and loss of 80-85% of the duplicated genes. To identify a deep signature of this teleost-specific whole-genome duplication (TSGD), we searched for duplicated genes that were systematically and uniquely retained in one or other of the superorders Ostariophysi and Acanthopterygii. TSGD paralogs comprised 17-21% of total gene content. Some 2.6% (510) of TSGD paralogs were present as pairs in the Ostariophysi genomes of Danio rerio (Cypriniformes) and Astyanax mexicanus (Characiformes) but not in species from four orders of Acanthopterygii (Gasterosteiformes, Gasterosteus aculeatus; Tetraodontiformes, Tetraodon nigroviridis; Perciformes, Oreochromis niloticus; and Beloniformes, Oryzias latipes) where a single copy was identified. Similarly, 1.3% (418) of total gene number represented cases where TSGD paralogs pairs were systematically retained in the Acanthopterygian but conserved as a single copy in Ostariophysi genomes. We confirmed the generality of these results by phylogenetic and synteny analysis of 40 randomly selected linage-specific paralogs (LSPs) from each superorder and completed with the transcriptomes of three additional Ostariophysi species (Ictalurus punctatus [Siluriformes], Sinocyclocheilus species [Cypriniformes], and Piaractus mesopotamicus [Characiformes]). No chromosome bias was detected in TSGD paralog retention. Gene ontology (GO) analysis revealed significant enrichment of GO terms relative to the human GO SLIM database for growth, Cell differentiation, and Embryo development in Ostariophysi and for Transport, Signal Transduction, and Vesicle mediated transport in Acanthopterygii. The observed patterns of paralog retention are consistent with different diploidization outcomes having contributed to the evolution/diversification of each superorder.

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Pós-graduação em Odontologia Restauradora - ICT

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Recently, a group of researchers proposed the concept of entransy by analogy with the electrical energy stored in a capacitor, the entransy being a measure of the ability of a body or a system to transfer heat. In comparative terms, the entransy dissipation rate is related with the loss of heat transfer ability just like the exergy destruction rate is proportional to the loss of work ability, being these losses caused by the irreversibilities related to the thermodynamic processes. Some authors have questioned the need for the concept of entransy, claiming that this concept is only an extension of a well established theory of heat transfer. The objective of this work is show the equivalence between the application of the concepts of entransy and entropy generation rate, which can be verified using various application examples. The application examples used here are the thermodynamic modeling of three physical models of solar energy collectors and a physical model of a sensible heat storage system. Analytical results are shown and compared. The results showed that the application of the concept of entransy provided identical expressions obtained by the concept of entropy generation, indicating a duplication of concepts. (C) 2014 Elsevier Ltd. All rights reserved.

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Pós-graduação em Ciências Biológicas (Genética) - IBB

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In regarding to the high prevalence of traumatic dental injuries in primary teeth and the possible disturbances on developing permanent successor germs, an early diagnosis and an adequate establishment of treatment planning are very important to minimize the damage caused by the trauma. Sequelaes can affect the coronal portion (white or yellow-brown discoloration associated or not with enamel hipoplasia, dilacerations of the crown), the root portion (dilaceration, duplication or cessation of root formation) or the whole successor permanent tooth (odontoma sequestration or disturbances of permanent successor eruption). The aim of this study is to make a literature review of the developmental disturbances of permanent teeth followed by traumatic injuries to theirs primary predecessors and to present cases reports to advise the dentists, their patients and parents about the damage that developing permanents teeth can undergo.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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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)