Distal 22q11.2 Microduplication Combined With Typical 22q11.2 Proximal Deletion: A Case Report.

The 22q11 chromosomal region contains low copy repeats (LCRs) sequences that mediate non-allelic homologous recombination, which predisposes to copy number variations (CNVs) at this locus. Hemizygous deletions of the proximal 22q11.2 region result in the 22q11.2 deletion syndrome (22q11.2 DS). In addition, 22q11.2 duplications involving the distal LCR22s have been reported. This article describes a patient presenting a 2.5-Mb de novo deletion at proximal 22q11.21 region (between LCRs A-D), combined with a 1.3-Mb maternally inherited duplication at distal 22q11.23 region (between LCRs F-H). The presence of concomitant chromosomal imbalances found in this patient has not been reported previously. Clinical and molecular data were compared with literature, in order to contribute to genotype-phenotype correlation. These findings exemplify the complexity and genetic heterogeneity observed in 22q11.2 deletion syndrome and highlights the difficulty to make genetic counseling and predict phenotypic consequences in these situations.

Equipamento microprocessado para geração de sinal de correção diferencial, em tempo real, para GPS

This work presents the development of low cost microprocessor-based equipment for generation of differential GPS correction signal, in real time, and configuration and supervision of the GPS base. The developed equipment contains a dedicated microcontroller connected to the GPS receiver, alphanumeric display and multifunction keyboard for configuration and operation of the system and communication interfaces. The electronic circuit has the function of receiving the information from GPS base; interpret them, converting the sentence in the RTCM SC-104 protocol. The microcontroller software makes the conversion of the signal received by the GPS base from the specific format to RTCM SC-104 protocol. The processing main board has two serials RS-232C standard interfaces. One of them is used for configuration and receiving the information generated by the GPS base. The other operates as output, sending the differential correction signal for the transmission system. The development of microprocessor-based equipment showed that it is possible the construction of a low cost private station for real time generation of differential GPS correction signal.

Efeitos da temperatura do ar, linhagem e período do dia nas freqüências de ocorrências e tempos de expressão comportamental de matrizes pesadas

Behavioral adjustments may occur fast and with less cost than the physiological adaptations. Considering the social behavior is suggestive that the frequency and the intensity of aggressive interactions, the total social cohesion and the extent of vicious attitudes may be used to evaluate welfare. This research presents an analysis of the interactions between the experimental factors such as temperature, genetic and time of the day in the behavior of female broiler breeders under controlled environment in a climatic chamber in order to enhance the different reaction of the birds facing distinct environmental conditions. The results showed significant differences between the behaviors expressed by the studied genetics presenting the need of monitoring them in real-time in order to predict their welfare in commercial housing, due to the complexity of the environmental variables that interfere in the well being process. The research also concluded that the welfare evaluation of female broiler breeders needs to consider the time of the day during the observation of the behaviors.

Modelos organizadores do pensamento: uma perspectiva de pesquisa sobre o raciocínio moral com adolescentes autores de infração

This article has the aim to expand the perspective of research in the field of morality. We present a proposal of morality study of outlaw teenagers according to Thinking Organizer Models Theory. Through the idea of complexity we search to understand the cognitive process in the elaboration of moral reasoning inside situations of conflict. With this perspective, we developed a research that aimed to identify which organizer models were applied by 20 outlaw male teenagers who abide by social punishment to solve the hypothetical moral conflicts. Through interviews we told them a situation of moral conflict that involved friendship relation, physical aggression and steal. We could identified several models which were joined in three categories. Such models reflected the diversity and regularity that are present inside the elaborated reasoning to solve the conflicts shown by us. We conclude that the diversity of organizer models identified shows the importance of the contents in the construction of moral reasoning.

Escola, democracia e a construção de personalidades morais

This article intends to discuss the relationship between morality, democracy and education within the perspective of the complex thinking, pointing to paths and proposals for its effective implementation in the educational routine, under the conviction that this is an imperative of the new social demands presented to the contemporary schooling. Understanding that one of the purposes of education is the ethical development, the author proposes intentional actions such that through them the school practices can offer to the subjects of education the necessary tools to build their cognitive, affective, cultural, and organic competence, thereby enabling them to act morally in the world. To that effect, seven aspects of school reality that hamper or contribute to school democratization are identified and discussed, which must be understood from the paradigm of complexity: school contents, classroom methodology, the nature of interpersonal relationships, the values, self-esteem and self-knowledge of the school community, as well as the school management processes.

Sensitivity and specificity of machine learning classifiers for glaucoma diagnosis using Spectral Domain OCT and standard automated perimetry

PURPOSE: To evaluate the sensitivity and specificity of machine learning classifiers (MLCs) for glaucoma diagnosis using Spectral Domain OCT (SD-OCT) and standard automated perimetry (SAP). METHODS: Observational cross-sectional study. Sixty two glaucoma patients and 48 healthy individuals were included. All patients underwent a complete ophthalmologic examination, achromatic standard automated perimetry (SAP) and retinal nerve fiber layer (RNFL) imaging with SD-OCT (Cirrus HD-OCT; Carl Zeiss Meditec Inc., Dublin, California). Receiver operating characteristic (ROC) curves were obtained for all SD-OCT parameters and global indices of SAP. Subsequently, the following MLCs were tested using parameters from the SD-OCT and SAP: Bagging (BAG), Naive-Bayes (NB), Multilayer Perceptron (MLP), Radial Basis Function (RBF), Random Forest (RAN), Ensemble Selection (ENS), Classification Tree (CTREE), Ada Boost M1(ADA),Support Vector Machine Linear (SVML) and Support Vector Machine Gaussian (SVMG). Areas under the receiver operating characteristic curves (aROC) obtained for isolated SAP and OCT parameters were compared with MLCs using OCT+SAP data. RESULTS: Combining OCT and SAP data, MLCs' aROCs varied from 0.777(CTREE) to 0.946 (RAN).The best OCT+SAP aROC obtained with RAN (0.946) was significantly larger the best single OCT parameter (p<0.05), but was not significantly different from the aROC obtained with the best single SAP parameter (p=0.19). CONCLUSION: Machine learning classifiers trained on OCT and SAP data can successfully discriminate between healthy and glaucomatous eyes. The combination of OCT and SAP measurements improved the diagnostic accuracy compared with OCT data alone.

Cultura de movimento e identidade : a Educação Fisica na contemporaneidade

Universidade Estadual de Campinas . Faculdade de Educação Física

O jogo de futebol : investigação de sua estrutura, de seus modelos e da inteligencia de jogo, do ponto de vista da complexidade

Universidade Estadual de Campinas . Faculdade de Educação Física

Interação entre alunos com e sem deficiencia na educação fisica escolar : validação de instrumento

Universidade Estadual de Campinas. Faculdade de Educação Física

Pedagogia do esporte : um estudo sobre as interrelações entre a iniciação esportiva e o esporte profissional : o caso do basquetebol feminino do Estado de São Paulo na visão do tecnico

Universidade Estadual de Campinas . Faculdade de Educação Física

Nadar : modo de ver e viver a agua

Universidade Estadual de Campinas. Faculdade de Educação Física

Auto-organização no comportamento de crianças no jogo

Universidade Estadual de Campinas . Faculdade de Educação Física

Educação fisica, escola e cultura : o enredo das diferenças

Universidade Estadual de Campinas . Faculdade de Educação Física

O campo atrativo perceptual do nadar (CAPn) e a propulsão na natação

Universidade Estadual de Campinas . Faculdade de Educação Física

Estudo sobre o nivel de participação, num programa de atividade fisica e saude e suas relações com as doenças cronicas não transmissiveis e a qualidade de vida : um estudo de caso

Universidade Estadual de Campinas. Faculdade de Educação Física