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Estudos de microsatélites em humanos: aplicações na identificação de indivíduos, genética de populações, datação de mutações e diagnóstico de doenças

Os microsatélites, também chamados STRs (Short Tandem Repeat), são pequenas sequências de DNA que consistem numa sequência de repetições de um motivo que varia de um a seis pares de bases. Existem em quase todos os cromossomas humanos e podem situar-se nos exões ou nos intrões. Estes últimos são altamente polimórficos e são por isso utilizados na identificação de indivíduos em testes de paternidade e também em estudos de genética de populações. A combinação dos vários genótipos possíveis faz com que cada indivíduo possua um perfil único, que permite a sua identificação. Existem também microsatélites associados a exões ou a regiões promotoras dos genes, normalmente repetições trinucleotídicas CGG/CCG ou CAG/CTG, associados a doenças neurodegenerativas como a síndrome do X-frágil e a doença de Huntington. Neste trabalho caracterizaram-se geneticamente várias populações humanas dos arquipélagos da Madeira, Açores e Cabo Verde. A partir do estudo dos microsatélites do cromossoma Y, foram definidas idades de coalescência que permitiram concluir que as cópias do gene DAZ situado no cromossoma Y são o resultado de um processo evolutivo estando a sua evolução associada a alguns haplogrupos. Verificou-se também a ocorrência de possíveis mutações nos SNPs que definem os haplogrupos, através da comparação dos microsatélites do cromossoma Y dentro de cada haplogrupo, especialmente no haplogrupo E3b. Verificou-se existir uma associação entre o número de repetições CAG e GGC do gene Receptor de Androgénios (AR), situado no cromossoma X, e a infertilidade especialmente quando combinados os dois polimorfismos, parecendo haver um efeito protector dos alelos maiores e alguma susceptibilidade para os alelos menores. Quando se estudou o número de repetições GGC do gene FMR1 em doentes com suspeita de síndrome de X-frágil observaram-se diferenças significativas quando comparadas com a população em geral e com um grupo de sobredotados. Essa diferença deveu-se principalmente à presença do alelo 29 em quase todos os indivíduos do primeiro grupo o que por si só não constitui um factor de risco mas poderá ser uma indicação da associação deste alelo com outra mutação no mesmo gene que possa ser responsável por este fenótipo.

Monitorização ambiental em espaços florestais com rede de sensores sem fios

O objectivo deste projecto é desenvolver um sistema de monitorização florestal recorrendo às Redes de Sensores sem Fios. Para a monitorização florestal foi desenvolvido um protótipo cuja função é obter periodicamente os valores de temperatura, humidade, luminosidade, tensão nas baterias e a indicação do nível de sinal de rádio frequência recebido (RSSI- Received Signal Strength Indicator). O equipamento referido foi instalado num ambiente exterior, com características semelhantes à de interesse de modo a permitir avaliar os efeitos do ambiente no desempenho da rede. O funcionamento das Redes de Sensores sem Fios, baseadas no protocolo ZigBee, foi estudado e depois aplicado para transmitir os valores obtidos. Os dados referidos percorrem a rede ZigBee até alcançar a estação base, que tem como função processar, manipular, armazenar numa base de dados e disponibilizar os dados em tempo real através de uma página de Internet. Como os dados são armazenados é sempre possível efectuar uma consulta à base de dados para realização de estudos e estatísticas. Tendo em conta a capacidade limitada dos sistemas de armazenamento de energia utilizados em ambientes exteriores, foi desenvolvido um algoritmo que permite comutar os dispositivos na rede ZigBee de router para end-device e vice-versa, de modo a diminuir o consumo de energia e aumentar o tempo de vida da rede. Este algoritmo foi testado numa situação em que os nós sensores estão colocados em linha, existindo um único salto entre os mesmos.

Prevalência de sintomas do climatério em mulheres dos meios rural e urbano no Rio Grande do Norte, Brasil

OBJETIVO: avaliar a sintomatologia climatérica e fatores relacionados entre mulheres dos meios urbano e rural do Rio Grande do Norte. MÉTODOS: estudo transversal, descritivo, envolvendo casuística de 261 mulheres climatéricas residentes em Natal e Mossoró (grupo urbano; n=130) e Uruaçu, em São Gonçalo do Amarante (grupo rural; n=131). A sintomatologia climatérica foi avaliada pelo Índice Menopausal de Blatt-Kupperman (IMBK) e Escala Climatérica de Greene (ECG). A análise estatística constou de comparações das medianas dos escores entre os grupos e regressão logística. Defi niram-se como “muito sintomáticas” as pacientes com escores ≥20, para ambos instrumentos (variável dependente). As variáveis independentes foram: idade, procedência, alfabetização, obesidade e prática de atividade física. RESULTADOS: o grupo urbano apresentou escores signifi cativamente superiores ao grupo rural, tanto para o IMBK (medianas de 26,0 e 17,0, respectivamente; p<0,0001), quanto para a ECG (medianas de 27,0 e 16,0, respectivamente; p<0,0001). Na amostra total, evidenciou-se que 56,3% (n=147) das mulheres foram classifi cadas como “muito sintomáticas”. Na comparação intergrupos, essa prevalência foi signifi cativamente mais elevada nas mulheres urbanas em relação às rurais (79,2 e 33,6%, respectivamente; p<0,05). Pela análise de regressão logística, evidenciou-se que a chance de pertencer ao grupo defi nido como “muito sintomáticas” foi maior para mulheres do meio urbano [odds ratio ajustado (OR)=7,1; 95% intervalo de confi ança a 95% (IC95%)=3,69-13,66] e alfabetizadas (OR=2,19; IC95%=1,16-4,13). A idade superior a 60 anos associou-se com menor chance de ocorrência de sintomas signifi cativos (OR=0,38; IC95%=0,17-0,87). CONCLUSÕES: a prevalência de sintomas climatéricos signifi cativos é menor em mulheres do meio rural, demonstrando que fatores socioculturais e ambientais estão fortemente relacionados ao surgimento dos sintomas climatéricos em nossa população.___________________________________ABSTRACT PURPOSE: to evaluate climacteric symptoms and related factors in women living in rural and urban areas of Rio Grande do Norte, Brazil. METHODS: a cross-sectional study involving 261 women in the climacteric was performed. A total of 130 women from Natal and Mossoró (urban group) and 131 from Uruaçu, in São Gonçalo do Amarante (rural group), were studied. Climacteric symptoms were assessed by the Blatt-Kupperman Menopausal Index (BKMI) and Greene Climacteric Scale (GCE). Statistical analysis involved comparison of median between groups and logistic regression analysis. Patients were defi ned as “very symptomatic” when the climacteric score was ≥20 for both questionnaires (dependent variable). Independent variables were: age, living area, schooling, obesity and physical activity. RESULTS: the urban group had signifi cantly higher scores than those of the rural group, both for BKMI (median of 26.0 and 17.0, respectively; p<0.0001) and for GCE (median of 27.0 and 16.0, respectively; p<0.0001). For the entire sample, a total of 56.3% (n=147) of the women were classifi ed as “very symptomatic”. This prevalence was signifi cantly higher in urban than in rural women (79.2 and 33.6%, respectively; p<0.05). Logistic regression analysis showed that the likelihood of belonging to the group defi ned as “very symptomatic” was greater for urban women [adjusted odds ratio (OR)=7.1; confi dence interval at 95% (95%CI)=3.69-13.66] who were literate (OR=2.19; 95%CI=1.16- 4.13). Individuals over the age of 60 years had less chance of having signifi cant symptoms (OR=0.38; 95%CI=0.17-0.87). CONCLUSIONS: the prevalence of signifi cant climacteric symptoms is less in women from a rural environment, showing that sociocultural and environmental factors are strongly related to the appearance of climacteric symptoms in our population

Gestao tecnologia: um estudo de caso no setor sucroalcooleiro

PEDRO, Edilson da Silva Pedro. Gestão tecnológica: um estudo de caso no setor sucroalcooleiro. 2004. 145f. Dissertaçao (Mestrado em Engenharia de Producao) - Universidade Federal de Sao Carlos, Sao Carlos, 2004.

Perfil Socioeconômico dos Camelôs do shopping Popular

The phenomenon of the informality has been common in the quarrels that involve Sciences Social and Human. First for not corresponding to a temporary and isolated phenomenon, and on the other hand for dealing with a presente situation in the majority of the Brazilian urban centers. In Cuiabá municipality, the alternative commerce appears as a social answer to the problems caused for the economic crisis of the country and seems to be deep-rooted to the urban landscape. This assignment angles was the street peddlers, in special that ones who develop their in a specific location on lowered of Cuiabá. Researches pretending to fill a blank of information about this subject involve theoritical and empirical levels. The theory searched to raise in a generalized manner given pertinent the informality and the pratical level through field research searched to analyze excellent aspects on the economic and occupational situation of a composed sample for two hundred and theree workers who develope the pratical one of the informal commerce in Shopping Popular in Cuiaba/MT. The analysis of gotten data alllowed to appreciate some excellent aspects with regard to the activity os the peddler, as: origni, formation, income, perspectives with regard to activity among others. In las analysis it still alllowed to verify the factors that condition the permanence these workers in this type of informal activity

Eleição nas escolas: uma análise do impacto do diretor eleito sobre o desempenho educacional no Estado da Bahia

In Brazil, the selection of school principals is set in a decentralized manner by each state and city, such that processes may vary with time for a specific locality. In the state of Bahia, school principals were appointed by a higher political hierarchy until 2008, when schools under state administration started selecting principals by elections. The main goal of this work is to evaluate whether changing this specific rule affected students proficiency levels. This is achieved by using a panel data and difference-in-differences approachs that compares state schools (treatment group) to city schools (control group) that did not face a selection rule change and thus kept having their principals politically appointed. The databases used are Prova Brasil 2007, 2009 and 2011, the first one prior and the other two former to the policy change. Our results suggest that students attending schools with principals that are selected and elected have slightly lower mean proficiency levels both in mathematics and in portuguese exams than those attending schools with appointed principals. This result, according to the literature, could be related to perverse effects of selecting school administrators by vote, such as corporatism, clientelism and politicization of the school environment

Indicações para o projeto arquitetônico de edifícios multifamiliares: uma análise pósocupação em Natal/RN

Confirming the Brazilian tendency in the field, the multifamily vertical condominium habitats in Natal are defined as buildings with three or more floors which have been an increasingly used solution. In the mentioned project, the connection between the projectarchitects and the user/ buyers are spread out, by which the first people conceive the realestate property as a creation for the market and not the individual client in specific. Such situation along with technical and financial limitations of the project lead to the adoption of standard solutions to be utilized by clients with different profiles. Besides that, there are various legal and urban parameters by the City Director Plan showing elements of great influence in the final solution adopted by the mentioned edifices. Moving to this subject in general, this project is focused on the case study of the Ed. Ville de Montpellier, having as a base of Post Occupancy Evaluation (POE), considered an efficient tool to analyze and keep up with the progress of the construction of the building, including technical approvals, the application of surveys with the local residents and the creation of informal interviews. The data shows that with time some items that initially motivated the acquisition of the realestate property (with a social common area) move to being less valued, and that the residents quickly alter the pre constructed space, thus seeking to alter the property in a more personal and conforming manner. The possibility of a new emphasis for projects on the mentioned space should also be in discussion, the created project calls for the attention of projected conceptual aspects and interdependence within project and construction which permits the indication of some recommendations for the projection of multifamily residential buildings within the studied realm

Paisagem, um patrimônio esquecido: subsídios para a construção de uma metodologia de valoração e proteção do cenário natural litorâneo

The so-called "residential tourism" came to intensify the previous occupation of the coastal zones, characterized by traditional beach houses, and brought significant consequences for their spatial configuration, and especially for its scenic value of the landscape. Although there is the intention to regulate the activities of enterprising groups by some legal instruments to control the use and occupation of land, and to contain some negative effects, the actions of government are still inefficient in trying to follow the implications on the landscape from the accelerated growth of the real estate and touristic sectors. Supported in the speech of economic development and income generation, public managers prioritize areas to attract tourists to the detriment of preserving important physical attributes of the natural environment that contribute significantly to the quality of life. The result can be noticed in the use of natural elements as one of the major components in the land valorization, and in the immediate attraction of investors and enterprising. Therefore, the objective of this work is to contribute to the debate on the landscape preservation a little detailed thematic in view of their relevance in the current context - by indicating subsidies to the creation of a methodology for the evaluation and protection of coastal zones that may assist the government in creating new instruments, and better prepare it in control of the occupation of these areas. For such, was followed two ways to analysis: the indirect method and the direct method. The first is grounded in the evaluation of landscape attributes, which is based on the work of Raquel Tardin (2008) and Eduardo Cuesta, Encarnación Algarra and Isabel Pastor (2001). The second, based on the research of Leticia and Carlos Hardt (2010) and on the concepts of phenomenology - expressed by Antonio Christofoletti (1985) and Yi-Fu Tuan (1983) - considers the population perspective on the quality of the natural scenery. Developed through cartographic materials, photographic collections and quantitative tables, this dissertation utilized as a case study the beaches of Barra de Tabatinga and Camurupim, located in the city of Nísia Floresta/RN. Despite already being sighted spaces of advanced stage of landscape degradation in these locations, areas of remarkable scenic value can still be found, what reinforce the urgency in adopting preservationists actions. The absence of laws focused on the management and protection of the landscape singularities associated with the inefficiency of the government to invigilate the land occupation in coastal zones, encourage the excessive action of the real estate-tourism, and consequently make the government the main responsible for the environmental and landscape impacts in these areas - by its omission or by their connivance. Therefore, the legislation permeates this entire process and constitutes itself as the most effective way to guarantee the right to the landscape to present and future generations. Are also pointed some important considerations to build a methodology, especially concerning possibilities of improvements and adaptations of its applicability in each case

Fucana ativa via das Map quinases e inibe a proliferação de células de ovário de hamster chinês (CHO)

Fucan is a term used to denominate L-fucose rich sulfated polysaccharides. The fucans have been studied due their pharmacological activities like antithrombotic, antiproliferative and antioxidant. We have extracted three fucan fractions from the brown seaweed Spatoglossum schröederi. These fucans were denominated Fuc B 1, Fuc B 1.5 and Fuc B 2. The chemical analyzes show that the fucans have very similar composition as demonstrated by agarose electrophoresis gel, sugar and sulfate content. The antiproliferative effect was determined by MTT and BrdU methodologies in CHO cells. The inhibition of proliferation effect of the three fractions was about 40%. Therefore this we proceed just with the Fuc B 2 due the higher yield. There is no apoptosis indication using the anexin V/propidium iodide test. We found a cell cycle phase G1 arrest. The western blotting show that the PKC; pFAK; pERK 1/2 are activated when the cells were treated with fucans. The treatement with inhibitor of MAPK PD98059 extinguished the fucan effect. These results indicates that fucan act by the ERK pathway inducing the cell death.

Avaliação da ação bioinseticida de SBTI e vicilina de Erythrina velutina em enzimas digestivas e membrana peritrófica de larvas de Plodia interpunctella (Lepidoptera: Pyralidae)

Plodia interpunctella (Indian meal moth) is a cosmopolitan pest that attacks not only a wide range of stored grain as well other food products. Due to its economic importance several researches have focused in a method with ability to control this pest with few or no damage to the environment. The study of digestive enzymes inhibitors, lectins and chitin-binding proteins, has often been proposed as an alternative to reduce insect damage. In this study we report the major classes of digestive enzymes during larval growth in P. Interpunctella, being those proteinases actives at pH 9.5 and optimum temperature of 50 oC to both larvae of the 3rd instar and pre-pupal stage of development. In vitro and zymogram assays presented the effects of several inhibitors, such as SBTI, TLCK and PMSF to intestinal homogenate of 3rd instar larvae of 62%, 92% and 87% of inhibition and In pre-pupal stage of 87%, 62 % and 55% of inhibition, respectively. Zymograms showed inhibition of two low molecular masses protein bands by TLCK and that in presence of SBTI were retarded. These results are indicative of predominance of digestive serine proteinases in gut homogenate from Plodia interpunctella larvae. This serine proteinase was then used as a target to evaluate the effect of SBTI on larvae in in vivo assay. Effect of SBTI on mortality and larval mass was not observed at until 4% of concentration (w/w) in diets. Chitin, another target to insecticidal proteins, was observed by chemical method. Moreover, optic microscopy confirmed the presence of a peritrophic membrane. Established this target, in vivo effect of EvV, a chitin binding vicilin, evaluated during the larval development of P. interpunctella and was obtained a LD50 of 0,23% and WD50 of 0,27% to this protein. Mechanism of action was proposed through of the in vivo digestibility of EvV methodology. During the passage through the larval digestive tract was observed that EvV was susceptible to digestive enzymes and a reactive fragment, visualized by Western blotting, produced by digestion was recovered after dissociation of the peritrophic membrane. The bound of EvV to peritrophic membrane was confirmed by immunohystochemical assays that showed strong immunofluorescent signal of EvV-FITC binding and peritrophic membrane. These results are a indicative that vicilins could be utilized as potential insecticide to Plodia interpunctella and a control methods using EvV as bioinsecticide should be studied to reduce lost caused by storage insect pests

Estudo paramétrico da recuperação de óleo no processo de drenagem gravitacional com injeção de CO2

The gas injection has become the most important IOR process in the United States. Furthermore, the year 2006 marks the first time the gas injection IOR production has surpassed that of steam injection. In Brazil, the installation of a petrochemical complex in the Northeast of Brazil (Bahia State) offers opportunities for the injection of gases in the fields located in the Recôncavo Basin. Field-scale gas injection applications have almost always been associated with design and operational difficulties. The mobility ratio, which controls the volumetric sweep, between the injected gas and displaced oil bank in gas processes, is typically unfavorable due to the relatively low viscosity of the injected gas. Furthermore, the difference between their densities results in severe gravity segregation of fluids in the reservoirs, consequently leading to poor control in the volumetric sweep. Nowadays, from the above applications of gas injection, the WAG process is most popular. However, in attempting to solve the mobility problems, the WAG process gives rise to other problems associated with increased water saturation in the reservoir including diminished gas injectivity and increased competition to the flow of oil. The low field performance of WAG floods with oil recoveries in the range of 5-10% is a clear indication of these problems. In order to find na effective alternative to WAG, the Gas Assisted Gravity Drainage (GAGD) was developed. This process is designed to take advantage of gravity force to allow vertical segregation between the injected CO2 and reservoir crude oil due to their density difference. This process consists of placing horizontal producers near the bottom of the pay zone and injecting gás through existing vertical wells in field. Homogeneous models were used in this work which can be extrapolated to commercial application for fields located in the Northeast of Brazil. The simulations were performed in a CMG simulator, the STARS 2007.11, where some parameters and their interactions were analyzed. The results have shown that the CO2 injection in GAGD process increased significantly the rate and the final recovery of oil

Estudos analíticos dos grafoelementos do eletroencefalograma em sono: fusos do sono, ondas agudas do vértex e o gradiente de freqüência e amplitude, como indicadores de comprometimento neurológico na criança

Innumerable studies have focused been reported on the sleep spindles (SS), Sharp Vertex Waves (SVW) and REM, NREM Sleep as indicators interpreting EEG patterns in children. However, Frequency and Amplitud Gradient (FAG) is rarely cited sleep parameter in children,that occurs during NREM Sleep. It was first described by Slater and Torres, in 1979, but has not been routinely evaluated in EEG reports. The aim of this study was to assess the absence of SS, SVW and FAG, as an indication of neurological compromise in children. The sample consisted of 1014 EEGs of children referred to the Clinical Neurophysiology Laboratory, Hospital Universitário de Brasília (HUB), from January 1997 to March 2003, with ages ranging from 3 months to 12 years old, obtained in spontaneous sleep or induced by choral hydrate. The study was transversal and analytical, in which, visual analysis of EEG traces was perfumed individually and independently by two electroencephalographers without prior knowledge of the EEG study or neurological findings. After EEG selection, the investigators analyzed the medical reports in order to define and correlate neurological pattern was classified according to the presence or absence of neurological compromise, as Normal Neurological Pattern (NNP), and Altered Neurological Pattern (ANP) respectively. From the visual analysis of the EEG(s), it was possible to characterize 6 parameters: 1- FAG present (64,1%); 2- FAG absent (35,9%); 3 - normal SS (87,9%); 4 - altered SS s (12,1%); 5 - normal SVW s (95,7%); 6 - altered SVW s (4,3%). The prevalence of well-formed FAG is found in the 3 months to 5 years age group in the children with NNF. FAG was totally absent from the age of 10 years. When comparing the three sleep graphielements, it was observed that SVW and SS were predominant in children with NNF. However, FAG absent was more prevalent in the ANF than in altered SS an SVW. The statistical analysis showed that there is a strong association of FAG absent, with isolated alteration, in ANF patients, in that the prevalence ratio was 6,60. The association becomes stronger when FAG absent + altered SS(s) is considered (RP= 6,68). Chi-square test, corrected by Yates technique, showed a highly significant relation for FAG ρ= 0,00000001, for error X of 5%, or else the 95% confidence interval (ρ<0,05). Thus, the FAG absent were more expressive in ANF patient than altered SS(s) and SVW(s). The association becomes stronger in order to establish a prognostic relation, when the FAG is combined with the SS. The results os this study allow us to affirm that the FAG, when absent at ages ranging from 3 months to 5 years , is an indication of neurological compromise. FAG is an age-dependent EEG parameter and incorporated systematically, in the interpretation criteria of the EEG of children s sleep, not only in the maturational point of view, but also neurological disturbances with encephalic compromise

Produção de biomassa e composição química de adubos verdes cultivados no Vale do Ribeira

The contribution of green manure to soil improvement and crop production depends primarily on biomass production and its chemical composition, which vary depending on the species, region and growing season. The aim of this research was to evaluate the chemical composition of biomass produced by green manures in Vale do Ribeira, São Paulo, Brazil. In order to develop this research, was carried an experiment in Pariquera-Acu, in 2006/2007, in completely randomized blocks design with four treatments (three green manure and spontaneous vegetation) and five replications. At 30, 60, 90 and 120 after sowing samples were collected in 1m(2) of the shoots and determined fresh and dry, and chemical composition biomass. Sunhemp, pigeon pea and mucuna produced, in decreasing order, the largest quantities of biomass and were more efficient than the spontaneous vegetation. The biomass produced by green manure had higher quality than that produced by spontaneous vegetation. Sunhemp and pigeon pea have a higher proportion of dry matter in stems which have low N, high C/N and L/N ratio, variables indicating slow decomposition of residues. The analysis of dry matter partitioned to better indication of the chemical composition of the residues and the prevision of the availability of nutrients in the soil.