Hematologically important mutations: X-linked chronic granulomatous disease (third update)

Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide is used to kill phagocytosed micro-organisms in neutrophils, eosinophils, monocytes and macrophages. The leukocyte NADPH oxidase is composed of five subunits, of which the enzymatic component is gp91-phox, also called Nox2. This protein is encoded by the CYBB gene on the X chromosome. Mutations in this gene are found in about 70% of all CGD patients. This article lists all mutations identified in CYBB in the X-linked form of CGD. Moreover, apparently benign polymorphisms in CYBB are also given, which should facilitate the recognition of future disease-causing mutations. (C) 2010 Elsevier Inc. All rights reserved.

Expression and purification of a recombinant adenovirus fiber knob in a baculovirus system

Objectives: To construct a recombinant baculovirus expressing the fiber knob domain of human adenovirus type 2 modified by the insertion of a foreign peptide, purify this protein after its production in insect cells, and to test its properties. Methods: Recombinant baculoviruses expressing the fiber knob were produced in Sf9 cells. The recombinant fiber knob was recovered from culture supernatants of infected cells and purified by a combination of Ni-NTA and ion-exchange chromatography. Results: Fiber knob was recovered from the culture media as a soluble protein. In the system used, the fiber knob is expressed fused with the V5 epitope and a histidine tag, which allowed purification by Ni-NTA chromatography. The protein was further purified by ion-exchange chromatography. We show that the recombinant fiber knob produced, with 31 extra amino acids in the C-terminus, can oligomerize and bind to the adenovirus receptor CAR, as it can block the infection of a recombinant type 5 adenovirus. Conclusions: The modified form of the fiber knob, produced in insect cells and purified by Ni-NTA and ion-exchange chromatography, retains the properties of oligomerization and binding to the fiber natural receptor, CAR. This construct has the potential to be a new adjuvant. Copyright (C) 2008 S. Karger AG, Basel.

Gene optimization leads to robust expression of human respiratory syncytial virus nucleoprotein and phosphoprotein in human cells and induction of humoral immunity in mice

Human respiratory syncytial virus (HRSV) is the major pathogen leading to respiratory disease in infants and neonates worldwide. An effective vaccine has not yet been developed against this virus, despite considerable efforts in basic and clinical research. HRSV replication is independent of the nuclear RNA processing constraints, since the virus genes are adapted to the cytoplasmic transcription, a process performed by the viral RNA-dependent RNA polymerase. This study shows that meaningful nuclear RNA polymerase II dependent expression of the HRSV nucleoprotein (N) and phosphoprotein (F) proteins can only be achieved with the optimization of their genes, and that the intracellular localization of N and P proteins changes when they are expressed out of the virus replication context. Immunization tests performed in mice resulted in the induction of humoral immunity using the optimized genes. This result was not observed for the non-optimized genes. In conclusion, optimization is a valuable tool for improving expression of HRSV genes in DNA vaccines. (c) 2009 Elsevier B.V. All rights reserved.

A new tick Kunitz type inhibitor, Amblyomin-X, induces tumor cell death by modulating genes related to the cell cycle and targeting the ubiquitin-proteasome system

The aim of this study was to evaluate the anti-tumor activity of Amblyomin-X, a serine protease Kunitz-type inhibitor. Amblyomin-X induced tumor mass regression and decreased number of metastatic events in a B16F10 murine melanoma model. Alterations on expression of several genes related to cell cycle were observed when two tumor cell lines were treated with Amblyomin-X. PSMB2, which encodes a proteasome subunit, was differentially expressed, in agreement to inhibition of proteasomal activity in both cell lines. In conclusion, our results indicate that Amblyomin-X selectively acts on tumor cells by inducing apoptotic cell death, possibly by targeting the ubiquitin-proteasome system. (C) 2010 Elsevier Ltd. All rights reserved.

Vision in click beetles (Coleoptera: Elateridae): pigments and spectral correspondence between visual sensitivity and species bioluminescence emission

Among lampyrids, intraspecific sexual communication is facilitated by spectral correspondence between visual sensitivity and bioluminescence emission from the single lantern in the tail. Could a similar strategy be utilized by the elaterids (click beetles), which have one ventral abdominal and two dorsal prothoracic lanterns? Spectral sensitivity [S(lambda)] and bioluminescence were investigated in four Brazilian click beetle species Fulgeochlizus bruchii, Pyrearinus termitilluminans, Pyrophorus punctatissimus and P. divergens, representing three genera. In addition, in situ microspectrophotometric absorption spectra were obtained for visual and screening pigments in P. punctatissimus and P. divergens species. In all species, the electroretinographic S(lambda) functions showed broad peaks in the green with a shoulder in the near-ultraviolet, suggesting the presence of short- and long-wavelength receptors in the compound eyes. The long-wavelength receptor in Pyrophorus species is mediated by a P540 rhodopsin in conjunction with a species-specific screening pigment. A correspondence was found between green to yellow bioluminescence emissions and its broad S(lambda) maximum in each of the four species. It is hypothesized that in elaterids, bioluminescence of the abdominal lantern is an optical signal for intraspecifc sexual communication, while the signals from the prothoracic lanterns serve to warn predators and may also provide illumination in flight.

Low cost selective sensor for carbonyl compounds in air based on a novel conductive poly(p-xylylene) derivative

A novel poly(p-xylylene), PPX, derivative bearing phenyl side groups was electrochemically synthesized in 85% yield. The polymer, poly(2-phenyl-p-xylylene) (PPPX), presented a major fraction (88%) soluble in common organic solvents. It showed to be thermally resistant up to 140 degrees C. UV-VIS analysis revealed an Egap of similar to 3.0 eV. Gas sensors made from thin films of CSA doped PPPX deposited on interdigitated electrodes exhibited significant changes in electrical conductance upon exposure to five carbonyl compounds: acetaldehyde, propionaldehyde. benzaldehyde, acetone and butanone. Three-dimensional plots of relative response vs. time of half-response vs. time of half-recovery showed good discrimination between the five carbonyl Compounds tested. (C) 2008 Elsevier B.V. All rights reserved.

A selective conductive polymer-based sensor for volatile halogenated organic compounds (VHOC)

A novel poly(p-xylylene), PPX, derivative bearing alkoxyphenyl side groups was electrochemically synthesized in 87% yield. The polymer, poly(4`-hexyloxy-2,5-biphenyleneethylene) (PHBPE), presented a fraction (92%) soluble in common organic solvents. It showed to be thermally resistant up to 185 degrees C. UV-vis analysis revealed an E-gap of 3.5 eV Gas sensors made from thin films of 10-camphorsulfonic acid-doped PHBPE deposited on interdigitated electrodes exhibited significant changes in electrical conductance upon exposure to five VHOCs: 1,2-dichloroethane, bromochloromethane, trichloromethane, dichloromethane and tetrachloromethane. The conductance decreased after exposure to tetrachloromethane and increased after exposure to all the other VHOCs. Three-dimensional plots of relative response versus time of half response versus time of half recovery showed good discrimination between the five VHOCs tested. (c) 2008 Elsevier B.V. All rights reserved.

Methylmercury localization in Danio rerio retina after trophic and subchronic exposure: A basis for neurotoxicology

Methylmercury is a known neurotoxic organometal which affects visual functions and few studies concerns to wild fish are available. The autometallography mercury distribution in the retina of Danio rerio was mapped using light and electron microscopy. Abundant mercury deposits were found in the photoreceptor layer (outer and inner segments of the photoreceptors) and in the inner and outer nuclear layers. Occasionally, the presence of mercury deposits in plexiform layers was observed and very rarely in the ganglion cell layer. Also the occurrence of mercury deposits in cells from the disc region was observed, but not in the nerve fiber layer. An interesting difference was found between mercury accumulation in the central and peripheral regions of the retina. These results demonstrate that mercury after trophic exposure to Danio rerio is able to cross the blood-retina barrier and accumulate in the cells of the retina even under subchronic exposure. (C) 2010 Elsevier Inc. All rights reserved.

Cuidado odontológico provido a pessoas idosas residentes em instituições geriátricas de pequeno porte em Porto Alegre - RS : a retórica, a prática e os resultados

Dados demográficos confirmam o fenômeno do envelhecimento da população brasileira. Entretanto idosos que têm a ventura de desfrutar mais anos de vida, nem sempre conseguem fazê-lo com saúde. Isso é evidente, quando se analisa a condição de saúde bucal. Por várias razões, muitos idosos são institucionalizados para receberem a atenção e o auxílio de pessoal capacitado. Dentre os diversos serviços fornecidos, tanto hospitalares quanto de hotelaria, o cuidado odontológico não tem sido prioritário, e costumeiramente se observa flagrantes omissões. O objetivo deste trabalho foi identificar as características da provisão de cuidado odontológico proporcionado aos idosos residentes em instituições geriátricas de pequeno porte no município de Porto Alegre/RS, e estabelecer sua relação com as condições de higiene bucal deste grupo. Combinando métodos quantitativos e qualitativos de pesquisa, buscou-se coletar dados sobre a higiene bucal dos idosos institucionalizados e informações sobre cuidado odontológico com seus cuidadores e supervisores nas 12 casas geriátricas integrantes da amostra. A análise dos depoimentos dos supervisores e cuidadores demonstra que o cuidado odontológico não segue qualquer tipo de protocolo, padronização ou normatização, sendo realizado empiricamente e, em última análise, sob a responsabilidade e critério dos cuidadores. O índice de placa médio em dentes encontrado nos idosos resultou 2,24, segundo os parâmetros de Sillnes e Löe. No exame em próteses, segundo o índice de Ambjornsen, o resultado apurado atingiu 7,14. Embora os entrevistados considerem que o cuidado odontológico seja realizado com regularidade, questiona-se a sua eficácia diante dos altos níveis de placa observados. Os dados indicam que as características empíricas dos procedimentos de higiene bucal, desassociados de adequada orientação técnica, especialmente odontogeriátrica, ante o descompromisso organizacional privado, institucional público, e até familiar, implicam um cuidado odontológico bastante insatisfatório, sugerindo que os idosos institucionalizados estão sendo negligenciados permanentemente no âmbito odontológico.

Previsão de irregularidade pós-recape em rodovias do RS : ajuste no modelo HDM-4

Esta dissertação analisa a evolução da irregularidade longitudinal de pavimentos, devida à execução de recapes em concreto asfáltico. Consideraram-se nove trechos de rodovias, totalizando aproximadamente 265 km, com estruturas representativas da malha viária do Estado do Rio Grande do Sul. Registraram-se irregularidades antes e após o recape, e as reduções medidas foram comparadas com valores previstos pelos modelos linear e bilinear propostos pelo programa HDM-4 do Banco Mundial. As diferenças entre reduções previstas e medidas alertaram para a necessidade de ajuste dos modelos em alguns casos, levando em conta as estruturas dos pavimentos e as espessuras de recape analisadas. Propõe-se nesta dissertação valores para os parâmetros ajustáveis dos modelos, com cuja aplicação foram minimizadas as diferenças entre as reduções medidas e previstas. De forma complementar, desenvolveu-se um estudo de sensibilidade para determinar o efeito que as diferenças, por ventura existentes, entre espessuras projetadas e executadas de recape poderiam ter na redução da irregularidade. Também, por meio de uma análise estatística, obteve-se um modelo para previsão da redução da irregularidade em função da espessura do recape e da irregularidade anterior à execução do mesmo.

Dinâmica de institucionalização de práticas sociais: estudo da responsabilidade social no campo das organizações bancárias

The scope of this theses is to understand the dynamics of the institutionalization of Corporate Social Responsibility (CSR) within the Field of Banking Organizations in Brazil. Using the social analysis model put forward by Boltanski and Chiapello (1999) and reverting to the conceptual basis of the institutional approach and using Bourdieu¿s notion of interest (1996), we arrive at an analytical model that enabled us to assess CSR as part of a movement of displacement of capitalism. The theory we propose here is that with the institutionalization of CSR, actions are justified in terms of the common good, being legitimized by structural confirmations and arrangements and, at the same time, heeding the inherent interests of the Field. The means used for comprehension of the dynamics of the institutionalization of CSR were: (1) the analysis of the construction of the phenomenon of CSR, which enabled us to identify critical factors and events, leaders in Brazil and associated ratification of the institutionalization of this social practice; (2) the description of the Field of Banking Organizations and the identification of the elements of its CSR in History, which are essential steps for understanding the justifications for insertion of the Field in the movement towards CSR; (3) the identification of key players in the institutionalization of the social practice within the Field, as well as the categorization of practical actions considered socially responsible to be found in the organizations researched, analyzing them in terms of justifications and interests; (4) the analysis of the dissemination and sedimentation of structural arrangements linked to CSR in the organizations of the Field, such as specific areas created to deal with CSR, social reports and organizational websites. The field research assessed some 30 organizations and included documentary analysis and interviews. We noted that, from being a marginal and isolated action, over the course of the past decade CSR has become a structured action in banking organizations, while at the same time becoming transformed into a social value, capable of contributing to the legitimacy of the Field. In this respect, research showed that retail banks are those that are inserted in the movement towards CSR, which ratifies the thesis of the phenomenon as displacement of capitalism.

Responsabilidade Social das Organizações Públicas: Estudo de Caso no Banco Central do Brasil

o objetivo da dissertação é compreender a responsabilidade social das organizações, tomando-se como estudo de caso o Banco Central do Brasil. Para tanto, são analisados fatores que têm influenciado mudanças no posicionamento da organização frente a elementos concernentes à referida responsabilidade. O objetivo maior do estudo, desta forma, é aumentar o entendimento acerca do papel do Banco Central, as dimensões de sua responsabilidade social, tendo como referência a visão de seus integrantes.

Análise de investimentos de renda variável : uma ponte entre a teoria e a prática

O trabalho aborda os conceitos de análise de investimentos de renda variável. Sintetiza a teoria de análise de investimentos e identifica os pontos de controvérsia na literatura.

Turismo sustentável em áreas de proteção ambiental: a APA do Capivari-Monos

Este trabalho trata das possibilidades de desenvolvimento do turismo sustentável em Áreas de Proteção Ambiental (APA), utilizando como estudo de caso a APA do Capivari-Monos. Aborda o conceito de desenvolvimento sustentável, sua aplicação no turismo e os. instrumentos de planejamento utilizados para a implementação da atividade de forma sustentável. Expõe o processo de implementação da atividade turística na APA do Capivari-Monos, apontando suas relações com a preservação do meio ambiente, as condições econômicas e os conflitos sociais existentes na região, propondo-se a verificar em que medida.os instrumentos gerenciais possibilitam a compatibilização do desenvolvimento do turismo com as necessidades específicas da Área.