A Genome-Wide Association Study of the Protein C Anticoagulant Pathway

The Protein C anticoagulant pathway regulates blood coagulation by preventing the inadequate formation of thrombi. It has two main plasma components: protein C and protein S. Individuals with protein C or protein S deficiency present a dramatically increased incidence of thromboembolic disorders. Here, we present the results of a genome-wide association study (GWAS) for protein C and protein S plasma levels in a set of extended pedigrees from the Genetic Analysis of Idiopathic Thrombophilia (GAIT) Project. A total number of 397 individuals from 21 families were typed for 307,984 SNPs using the Infinium® 317 k Beadchip (Illumina). Protein C and protein S (free, functional and total) plasma levels were determined with biochemical assays for all participants. Association with phenotypes was investigated through variance component analysis. After correcting for multiple testing, two SNPs for protein C plasma levels (rs867186 and rs8119351) and another two for free protein S plasma levels (rs1413885 and rs1570868) remained significant on a genome-wide level, located in and around the PROCR and the DNAJC6 genomic regions respectively. No SNPs were significantly associated with functional or total protein S plasma levels, although rs1413885 from DNAJC6 showed suggestive association with the functional protein S phenotype, possibly indicating that this locus plays an important role in protein S metabolism. Our results provide evidence that PROCR and DNAJC6 might play a role in protein C and free protein S plasma levels in the population studied, warranting further investigation on the role of these loci in the etiology of venous thromboembolism and other thrombotic diseases

Study of complex the copper (II) with Trp-Gly by using the techinique of electronic paramagnetic resonance

Neste trabalho estudou-se os complexos formados pelo íon cobre (II) com o dipeptides triptofilglicina na faixa de pH=3,0 a 13,5. A caracterização dos mesmos foram realizadas através das técnicas de Ressonância Paramagnética Eletrônica (RPE) em duas temperaturas (ambiente e nitrogênio líquido) e Absorção Ótica no visível (350 a 1000 nm). As amostras em solução aquosa obedeceram a relação de 10 ligantes para 1 metal. Caracterizou-se três tipos de complexos nas faixas pHs: 4.0 a 6,0; 6,0 a 12,0 e acima de 12,0. Estes complexos foram propostos com base nos dados espectroscópicos e um conhecimento prévio dos pKs dos grupos desprotonáveis, são eles: CuL2, CuL(H2O) e CuL(OH) (H2O). Estudou-se a influência da cadeia lateral pesada nos parâmetros espectroscópicos e comparativamente ao complexo Gliciltriptofano estudado por Nascimento (1985) no mesmo intervalo de pH, foi possível mostrar que o modelo de não covalência (Brill e Bryce (1968)), é o mais adequado em explicar a diminuição da constante hiperfina Az, constatado em Ph elevado. O complexo tridentado CuL(H2O) foi cristalizado e medidas de RPE no monocristal permitiram obter o tensor giromagnético molecular. Interação de exchange e/ou dipolar, não permitiram a determinação do tensor hiperfino no complexo. Através das direções principais e valores das direções das componentes do tensor cristalino e as direções das normais aos planos de coordenação, foi possível detectar uma forte interação de exchange entre dois íons vizinhos.In this work was studied the complex made by the ion copper(II) with the dipeptide tryptophilglicine in the area of pH between 3,0-13,5. The cacacterizations of them were realized by the electron paramagnet resonance (ERP) in two temperatures (room and liquid nitrogen) and Optics Absorption in the visible (between 350 - 1100 nm). The samples in aqueous solution got the rate of 10 ligand to one metal. Three species of complex were characterized: pHs between 4,0-6,0; 6,0-12,0 and above 12,0. These complexes were proposed with foundation in the spectroscope informations and a previous know of the pKs of the deprotanatable groups, they are: CuL2; CuL(H2O) and CuL(OH) (H2O). The influency of the lateral chain weighed in the spectroscopies parameter was studied, and in compere with the glyciltryptophan complex studied by Nascimentoi (1985) in the same intermission of the pH, it was possible to show that the model of no covalente (Brill and Bryce-1968) is the adequader to explain the hiperfine constant Az diminution, evidenced in heigh pH. The tridentate complex CuL(H2O) was crystallized and EPR mensures in the monocrystal allowed to get the molecular gyromagnetic tensor. Exchange and/or dipolar interaction didn\'t allow the determination of the hyperfine tensor of the complex. By the main directions and values of the component parts of the tensor g crystalline and the normal directions to the plans of coordination, it was possible to detect a strong interaction of exchange between to neighbour ions

A new arragement determine the coefficients of the emission and the secondary electrons distribution emitted by solids

Neste trabalho estudou-se um novo arranjo de medida para se obter a distribuição de energia dos elétrons secundários emitidos e os coeficientes de emissão por um sólido. Pelo fato deste arranjo permitir a medida direta do potencial de superfície no caso dos polímeros e da ddp de contato no caso dos metais, foi possível aplicar e descrever teoricamente o método de medida empregado para determinar o espectro energético dos secundários para a platina, Teflon-FEP, Mylar, PVDF- α, PVDF- β e polimero condutor. As cargas acumuladas durante a irradiação dos polímeros foram compensadas através do próprio feixe eletrônico. Este procedimento não é muito usual em relação aqueles aplicados na literatura e mostrou-se bastante eficaz. Pela primeira vez empregou-se o método dinâmico para determinar o coeficiente de emissão total em função da energia dos elétrons incidentes nos metais e verificou-se que estes resultados são idênticos aqueles obtidos pelo método do pulso. Um desdobramento natural ao aplicar o método dinâmico aos metais foram as medidas realizadas para camadas de ouro com espessura de 50 nm, 10 nm e 2,5 nm depositada sobre o Teflon-FEP, que deram origem ao modelo das duas camadas na interpretação dos resultados experimentais.A new arrangement of measure was developed in this study, in order to obtain the energy distribution from the emitted secondaries and the emission yields by a solid. Because this arrangement allowed the direct measurement of the surface potential, in the case of metals, it was possible to apply and describe theoretically the mensuration method employed, to determine the energy distribution of the secondaries to platinum, Teflon-FEP. Mylar, PVDF α, PVDF- β and thie conducting polymer. The charges accumulated during the polymers irradiation were compensated through the electronic beam itself. This proceeding is not very usual, as referring to the ones applied in literature, and it proved to be very efficacious. The dynamic method was employed for the first time to metals in order to determine the total emission yield in function of the energy of the inciding electrons and it was found out that these results were identical to the ones obtained through the pulse method. As a natural development, by applying the dynamic method to metals, the measurements achieved were also applied to golden layers 50 nm, 10 nm and 2,5 nm wide deposited on Teflon-FEP, and they gave birth to the two layers, in the interpretation of the experimental results

Measurement of the rotational inertia of bodies by using mechanical spectroscopy

In this paper, mechanical spectroscopy was used to study the rotational inertia of bodies. In order to verify and show its importance in relation to other techniques, measurements of the internal friction and rotational inertia of a body with liquid or sand inside were carried out. For a solid without axes and planes of symmetry, properties such as the matrix, directions and principal moments of inertia, variation of the rotational inertia for each of the coordinate planes, and the ellipsoid of inertia were determined. Force sensors and rotational motion were used in the measurements taken in an arrangement that was specifically designed for this type of measure.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP

A new arragement determine the coefficients of the emission and the secondary electrons distribution emitted by solids

Neste trabalho estudou-se um novo arranjo de medida para se obter a distribuição de energia dos elétrons secundários emitidos e os coeficientes de emissão por um sólido. Pelo fato deste arranjo permitir a medida direta do potencial de superfície no caso dos polímeros e da ddp de contato no caso dos metais, foi possível aplicar e descrever teoricamente o método de medida empregado para determinar o espectro energético dos secundários para a platina, Teflon-FEP, Mylar, PVDF- α, PVDF- β e polimero condutor. As cargas acumuladas durante a irradiação dos polímeros foram compensadas através do próprio feixe eletrônico. Este procedimento não é muito usual em relação aqueles aplicados na literatura e mostrou-se bastante eficaz. Pela primeira vez empregou-se o método dinâmico para determinar o coeficiente de emissão total em função da energia dos elétrons incidentes nos metais e verificou-se que estes resultados são idênticos aqueles obtidos pelo método do pulso. Um desdobramento natural ao aplicar o método dinâmico aos metais foram as medidas realizadas para camadas de ouro com espessura de 50 nm, 10 nm e 2,5 nm depositada sobre o Teflon-FEP, que deram origem ao modelo das duas camadas na interpretação dos resultados experimentais.A new arrangement of measure was developed in this study, in order to obtain the energy distribution from the emitted secondaries and the emission yields by a solid. Because this arrangement allowed the direct measurement of the surface potential, in the case of metals, it was possible to apply and describe theoretically the mensuration method employed, to determine the energy distribution of the secondaries to platinum, Teflon-FEP. Mylar, PVDF α, PVDF- β and thie conducting polymer. The charges accumulated during the polymers irradiation were compensated through the electronic beam itself. This proceeding is not very usual, as referring to the ones applied in literature, and it proved to be very efficacious. The dynamic method was employed for the first time to metals in order to determine the total emission yield in function of the energy of the inciding electrons and it was found out that these results were identical to the ones obtained through the pulse method. As a natural development, by applying the dynamic method to metals, the measurements achieved were also applied to golden layers 50 nm, 10 nm and 2,5 nm wide deposited on Teflon-FEP, and they gave birth to the two layers, in the interpretation of the experimental results

Study of complex the copper (II) with Trp-Gly by using the techinique of electronic paramagnetic resonance

Neste trabalho estudou-se os complexos formados pelo íon cobre (II) com o dipeptides triptofilglicina na faixa de pH=3,0 a 13,5. A caracterização dos mesmos foram realizadas através das técnicas de Ressonância Paramagnética Eletrônica (RPE) em duas temperaturas (ambiente e nitrogênio líquido) e Absorção Ótica no visível (350 a 1000 nm). As amostras em solução aquosa obedeceram a relação de 10 ligantes para 1 metal. Caracterizou-se três tipos de complexos nas faixas pHs: 4.0 a 6,0; 6,0 a 12,0 e acima de 12,0. Estes complexos foram propostos com base nos dados espectroscópicos e um conhecimento prévio dos pKs dos grupos desprotonáveis, são eles: CuL2, CuL(H2O) e CuL(OH) (H2O). Estudou-se a influência da cadeia lateral pesada nos parâmetros espectroscópicos e comparativamente ao complexo Gliciltriptofano estudado por Nascimento (1985) no mesmo intervalo de pH, foi possível mostrar que o modelo de não covalência (Brill e Bryce (1968)), é o mais adequado em explicar a diminuição da constante hiperfina Az, constatado em Ph elevado. O complexo tridentado CuL(H2O) foi cristalizado e medidas de RPE no monocristal permitiram obter o tensor giromagnético molecular. Interação de exchange e/ou dipolar, não permitiram a determinação do tensor hiperfino no complexo. Através das direções principais e valores das direções das componentes do tensor cristalino e as direções das normais aos planos de coordenação, foi possível detectar uma forte interação de exchange entre dois íons vizinhos.In this work was studied the complex made by the ion copper(II) with the dipeptide tryptophilglicine in the area of pH between 3,0-13,5. The cacacterizations of them were realized by the electron paramagnet resonance (ERP) in two temperatures (room and liquid nitrogen) and Optics Absorption in the visible (between 350 - 1100 nm). The samples in aqueous solution got the rate of 10 ligand to one metal. Three species of complex were characterized: pHs between 4,0-6,0; 6,0-12,0 and above 12,0. These complexes were proposed with foundation in the spectroscope informations and a previous know of the pKs of the deprotanatable groups, they are: CuL2; CuL(H2O) and CuL(OH) (H2O). The influency of the lateral chain weighed in the spectroscopies parameter was studied, and in compere with the glyciltryptophan complex studied by Nascimentoi (1985) in the same intermission of the pH, it was possible to show that the model of no covalente (Brill and Bryce-1968) is the adequader to explain the hiperfine constant Az diminution, evidenced in heigh pH. The tridentate complex CuL(H2O) was crystallized and EPR mensures in the monocrystal allowed to get the molecular gyromagnetic tensor. Exchange and/or dipolar interaction didn\'t allow the determination of the hyperfine tensor of the complex. By the main directions and values of the component parts of the tensor g crystalline and the normal directions to the plans of coordination, it was possible to detect a strong interaction of exchange between to neighbour ions