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Pesquisa de síndromes de microdeleção em pacientes com deficiência intelectual por meio da técnica de MLPA - Amplificação de Múltiplas Sondas Dependentes de Ligação
(Universidade Federal de São Carlos, 2012-09-21) Sabbag, Adriana Rosolia Costa; Melo, Débora Gusmão; https://lattes.cnpq.br/2587800992546559; https://lattes.cnpq.br/0749323931041853
Intellectual disability (ID) is manifest sign of more than 2,000 different clinical conditions and is present in 5% of the population. Because it is a heterogeneous group of clinical conditions, with different causal factors and simultaneously involved, about 50% of patients with ID have no defined etiology. Chromosomal microdeletions, situations in which there is loss of a fragment of up to 5Mb of the genome resulting in haploinsufficiency of one or multiple genes, are one of the possible causes of ID. The aim of this study was to standardize genetic testing with the technique of MLPA (Multiplex Ligation Probe Amplification) to investigate the presence of microdeletion syndromes in a sample of patients with idiopathic DI or with diagnosis not yet confirmed by molecular genetic testing. The MLPA kit used (SALSA® MLPA® P064-B2 MR1) detected, at the same time, 11 microdeletion syndromes: 1p36 deletion, Sotos, Miller-Dieker, 22q11.2 deletion, Saethre-Chotzen, Prader-Willi, Angelman, Williams, Alagille, Smith-Magenis and Canavan. We selected 57 patients with idiopathic ID and facial dysmorphias, with normal conventional karyotyping and normal brain imaging studies. The presence of microdeletion was identified in 4 patients (7%), 3 patients had Williams syndrome and 1 had 22q11.2 deletion. The results reinforce the usefulness of MLPA in the etiologic research of ID, helping in the clinical management and familial genetic counseling.
Avaliação do ciclo de vida da areia em mineradora de pequeno porte, na região de São José do Rio Preto - SP
(Universidade Federal de São Carlos, 2012-09-21) Souza, Ariane de; Sales, Almir; https://lattes.cnpq.br/7377787166073311; https://lattes.cnpq.br/0043073817211292
The mining of sand, although of great socio-economic importance to the national scene, has several negative impacts throughout the production chain. Among some of the interference in the natural environment occurs, soil degradation, air pollution and stress in the fauna and flora. This fact has generated great interest in mechanisms that mitigate or prevent adverse effects on the natural environment, such as the Life Cycle Analysis (LCA), which through mass balances and energy gains can provide socio-economic and environmental. The objective of this research was to evaluate the life cycle of the sand extracted from a riverbed mining in the small region of Sao Jose do Rio Preto in the stages of extraction, processing, storage and transport of sand. For this purpose, the procedures were based on ISO standards 14040 and 14044, which require the determination of he purpose and scope, inventory analysis, environmental impact assessment (conducted through the EDIP method (Environmental Development of Industrial Products)) and interpretation. There was a visit to a mining company to collect information on techniques, technologies and inputs used in the production process. In determining the scope, purpose, system boundaries, scales, functional unit and other details were defined. The other steps involved the standardization of units of measurement, classification of environmental changes, normalization and weighting. As a result, it was found that the higher are the atmospheric emissions of carbon dioxide followed by nitrogen oxides and carbon monoxide, whereas potential environmental impacts are most significant global warming and ozone photochemical formation. So, are recommended as the main mitigating actions: activities aimed at optimizing the extraction of sand, implementation of a program for managing the vehicle fleet and dredges and resizing of centrifugal pumps.
Resíduos agroindustriais como fonte de silício para a cultura do milho
(Universidade Federal de São Carlos, 2012-09-21) Lima, Paulo Henrique de; Fontanetti, Anastácia; https://lattes.cnpq.br/3598362104615834; https://lattes.cnpq.br/2748997558445063
The agro-industrial residues have great potential for providing silicon (Si) and other nutrients for crops. The objective of this work to assess the supply of silicon for organic waste agribusiness, and to evaluate the influence of this nutrient in the accumulation of nitrogen (N), phosphorus (P), potassium (K), calcium (Ca), magnesium (Mg ) and sulfur (S) in maize. We analyzed the accumulation of silicon in the leaves and stems of the plant and the effect of these sources in stem diameter, the height and mass of dry corn plant, as well as the accumulation of N, P, K, Ca, Mg and S in corn leaves provided by agro-industrial residues and by levels of silicon used. The experiment was conducted in a greenhouse in a completely randomized design (4x3) + 1. We evaluated three sources organic agribusiness (bagasse ash from sugar cane filter cake rotary sugarcane and rice hulls), and for the supply of silicon also evaluated the mineral source (calcium silicate PA); three strengths of SiO2 (175 kg ha-1, 350 kg ha-1 and 700 kg ha-1) and additional treatment (control), which received no SiO2. The sources and doses of SiO2 did not affect the mass of dried corn plants. However, the addition of SiO2 dose provided an increase in the diameter of stem of the maize plant. The rice hulls was more efficient among all treatments in Si supply to the corn crop. The supply of Si favors the absorption and consequent accumulation of potassium and phosphorus from the corn plant. There was no relationship between the supply of Si and Mg and S uptake by corn plant. Finally, there was no relationship between the accumulation of Si and the reduction of leaf N in corn plants.
A contribuição da pesquisa-ação na construção do conhecimento científico na Engenharia de Produção brasileira
(Universidade Federal de São Carlos, 2012-09-21) Gibertoni, Daniela; Araújo Filho, Targino de; https://lattes.cnpq.br/6253249405332428
The main subject of this thesis is the action research and has as general objective describe the construction of knowledge in the action research field from the uses that Brazilian production engineers make of it, aiming to recognize its contributions, potential and limits. To achieve this goal, it was needed a literature review on national and international literature to later contrast with the national academic researches that use action research and show its uses to overcome the main obstacles faced. It´s shown the main features and currents of the action research, which emerged over the years, due to historical and cultural factors, and also to the practical needs arising from the research. Thus, there are characteristics that unify the action research, as well as differences. Identified these similarities and differences, a documentary research was carried out in academic papers published in National Meeting of Production Engineering (ENEGEP) from 1996 to 2010. 191 articles were analyzed, searching for the answer to the question: which use is made of the action research in Production Engineering in Brazil that allows to identifying the types of knowledge generated by it? The content analysis was the strategy used for the treatment of data, using NVivo software of the company QSR International. Through this software it was possible to do an analysis with a qualitative approach. With the analysis were identified some researchers who make use of action research very often in their researches. With these data, semi-structured interviews were made with seven researchers. It was noticed that in some sub-areas of Production Engineering there is a higher use, such as in the sub-area of information systems, product development and knowledge management. Even in other sub-areas we notice that the use of action research takes place mainly because it is a real study, combining theory and practice. This means, that the greatest knowledge that the researcher seeks to obtain when using the action research is the practical application in a given sector, promoting during the intervention the changing process and consequently the learning.
Estudo teórico das propriedades ópticas dos BaWO4 e PbWO4
(Universidade Federal de São Carlos, 2012-09-21) Ferreira, Márcio Douvel; Longo, Elson; https://lattes.cnpq.br/9848311210578810; https://lattes.cnpq.br/4051230207452063
Among the scheelites, we highlight the Barium Tungstats (BaWO4) and lead tungstate (PbWO4). These compounds can be synthesized by various synthetic routes. However, we can highlight the hydrothermal synthesis method assisted by microwave (SHM). Using this technique, one can use various solvents, surfactants and different synthesis conditions, such as time and temperature. Thus, crystals can be synthesized with morphologies with growth plans defined. The PbWO4 and BaWO4 powders were synthesized by SHM and characterized by techniques: XRD, Raman spectroscopy (FT-Raman), UV-Vis, photoluminescence and FEG-SEM. Theoretical models have been proposed based on the lattice parameters (a=b < c) and the cartesian coordinates (x, y, z) obtained by the Rietveld refinement performed for the powders. We proposed a theoretical model, crystalline, highly organized for each compound and two theoretical models disordered: the model with the shift modifier network at 0.5 Å in the Z direction and the third model the displacement of W-forming network, at 0.5 Å in the directions (x, y, x) in relation to oxygen. The calculations were performed using the DFT method, B3LYP functional. Models showed 13 crystalline Raman active modes, according to the calculations of group theory. The frequencies calculated theoretically for BaWO4 and PbWO4 are in accordance with experimental data. The models presented displaced Egap lower compared to model crystalline defects due to the simulated unit cell. The theoretical data show that the photoluminescence emission is directly related to structural disorder.