Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic Mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. Methods: We performed direct sequence analysis of interferon regulatory factor 6 exons oil samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. Results: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. Conclusion: The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6. Oil the other hand, the distribution of popliteal pterygium syndrome-associated mutations suggests a different, though not mutually exclusive, effect oil interferon regulatory factor 6 function. Genet Med 2009:11(4):241-247.

Downwelling solar irradiance in the biomass burning region of the southern Amazon: Dependence on aerosol intensive optical properties and role of water vapor

The sensitivity of solar irradiance at the surface to the variability of aerosol intensive optical properties is investigated for a site (Alta Floresta) in the southern portion of the Amazon basin using detailed comparisons between measured and modeled irradiances. Apart from aerosol intensive optical properties, specifically single scattering albedo (omega(o lambda)) and asymmetry parameter (g(lambda)), which were assumed constant, all other relevant input to the model were prescribed based on observation. For clean conditions, the differences between observed and modeled irradiances were consistent with instrumental uncertainty. For polluted conditions, the agreement was significantly worse, with a root mean square difference three times larger (23.5 Wm(-2)). Analysis revealed a noteworthy correlation between the irradiance differences (observed minus modeled) and the column water vapor (CWV) for polluted conditions. Positive differences occurred mostly in wet conditions, while the differences became more negative as the atmosphere dried. To explore the hypothesis that the irradiance differences might be linked to the modulation of omega(o lambda) and g(lambda) by humidity, AERONET retrievals of aerosol properties and CWV over the same site were analyzed. The results highlight the potential role of humidity in modifying omega(o lambda) and g(lambda) and suggest that to explain the relationship seen between irradiances differences via aerosols properties the focus has to be on humidity-dependent processes that affect particles chemical composition. Undoubtedly, there is a need to better understand the role of humidity in modifying the properties of smoke aerosols in the southern portion of the Amazon basin.

A case study of the direct radiative effect of biomass burning aerosols on precipitation in the Eastern Amazon

Numerical experiments with the Brazilian additions to the Regional Atmospheric Modeling System were performed with two nested grids (50 and 10 km horizontal resolution, respectively) with and without the effect of biomass burning for 8 different situations for 96 h integrations. Only the direct radiative effect of aerosols is considered. The results were analyzed in large areas encompassing the BR163 road (one of the main areas of deforestation in the Amazon). mainly where most of the burning takes place. The precipitation change due to the direct radiative impact of biomass burning is generally negative (i.e., there is a decrease of precipitation). However, there are a few cases with a positive impact. Two opposite forcing mechanisms were explored: (a) the thermodynamic forcing that is generally negative in the sense that the aerosol tends to stabilize the lower atmosphere and (b) the dynamic impact associated with the low level horizontal pressure gradients produced by the aerosol plumes. In order to understand the non-linear relationship between the two effects, experiments were performed with 4-fold emissions. In these cases, the dynamic effect overcomes the stabilization produced by the radiative forcing and precipitation increase is observed in comparison with the control experiment. This study suggests that. in general, the biomass burning radiative forcing decreases the precipitation. However, very large concentrations of aerosols may lead to an increase of precipitation due to the dynamical forcing associated with the horizontal pressure gradients. (C) 2009 Elsevier B.V. All rights reserved.

Impact of biomass burning aerosol on the monsoon circulation transition over Amazonia

Ensemble simulations of a regional climate model (RegCM3) forced by aerosol radiative forcing suggest that biomass burning aerosols can work against the seasonal monsoon circulation transition, thus re-enforce the dry season rainfall pattern for Southern Amazonia. Strongly absorbing smoke aerosols warm and stabilize the lower troposphere within the smoke center in southern Amazonia (where aerosol optical depth >0.3). These changes increase the surface pressure in the smoke center, weaken the southward surface pressure gradient between northern and southern Amazonia, and consequently induce an anomalous moisture divergence in the smoke center and an anomalous convergence in northwestern Amazonia (5 degrees S-5 degrees N, 60 degrees W-70 degrees W). The increased atmospheric thermodynamic stability, surface pressure, and divergent flow in Southern Amazonia may inhibit synoptic cyclonic activities propagated from extratropical South America, and re-enforce winter-like synoptic cyclonic activities and rainfall in southeastern Brazil, Paraguay and northeastern Argentina. Citation: Zhang, Y., R. Fu, H. Yu, Y. Qian, R. Dickinson, M. A. F. Silva Dias, P. L. da Silva Dias, and K. Fernandes (2009), Impact of biomass burning aerosol on the monsoon circulation transition over Amazonia, Geophys. Res. Lett., 36, L10814, doi: 10.1029/2009GL037180.

Regional representativity of AERONET observation sites during the biomass burning season in South America determined by correlation studies with MODIS Aerosol Optical Depth

This paper presents an analysis of ground-based Aerosol Optical Depth (AOD) observations by the Aerosol Robotic Network (AERONET) in South America from 2001 to 2007 in comparison with the satellite AOD product of Moderate Resolution Imaging Spectroradiometer (MODIS), aboard TERRA and AQUA satellites. Data of 12 observation sites were used with primary interest in AERONET sites located in or downwind of areas with high biomass burning activity and with measurements available for the full time range. Fires cause the predominant carbonaceous aerosol emission signal during the dry season in South America and are therefore a special focus of this study. Interannual and seasonal behavior of the observed AOD at different sites were investigated, showing clear differences between purely fire and urban influenced sites. An intercomparison of AERONET and MODIS AOD annual correlations revealed that neither an interannual long-term trend may be observed nor that correlations differ significantly owing to different overpass times of TERRA and AQUA. Individual anisotropic representativity areas for each AERONET site were derived by correlating daily AOD of each site for all years with available individual MODIS AOD pixels gridded to 1 degrees x 1 degrees. Results showed that for many sites a good AOD correlation (R(2) > 0.5) persists for large, often strongly anisotropic, areas. The climatological areas of common regional aerosol regimes often extend over several hundreds of kilometers, sometimes far across national boundaries. As a practical application, these strongly inhomogeneous and anisotropic areas of influence are being implemented in the tropospheric aerosol data assimilation system of the Coupled Chemistry-Aerosol-Tracer Transport Model coupled to the Brazilian Regional Atmospheric Modeling System (CCATT-BRAMS) at the Brazilian National Institute for Space Research (INPE). This new information promises an improved exploitation of local site sampling and, thus, chemical weather forecast.

A Framework for Exploring Multidimensional Data with 3D Projections

Visualization of high-dimensional data requires a mapping to a visual space. Whenever the goal is to preserve similarity relations a frequent strategy is to use 2D projections, which afford intuitive interactive exploration, e. g., by users locating and selecting groups and gradually drilling down to individual objects. In this paper, we propose a framework for projecting high-dimensional data to 3D visual spaces, based on a generalization of the Least-Square Projection (LSP). We compare projections to 2D and 3D visual spaces both quantitatively and through a user study considering certain exploration tasks. The quantitative analysis confirms that 3D projections outperform 2D projections in terms of precision. The user study indicates that certain tasks can be more reliably and confidently answered with 3D projections. Nonetheless, as 3D projections are displayed on 2D screens, interaction is more difficult. Therefore, we incorporate suitable interaction functionalities into a framework that supports 3D transformations, predefined optimal 2D views, coordinated 2D and 3D views, and hierarchical 3D cluster definition and exploration. For visually encoding data clusters in a 3D setup, we employ color coding of projected data points as well as four types of surface renderings. A second user study evaluates the suitability of these visual encodings. Several examples illustrate the framework`s applicability for both visual exploration of multidimensional abstract (non-spatial) data as well as the feature space of multi-variate spatial data.

[(13)C(2)]- Acetaldehyde Promotes Unequivocal Formation of 1,N(2)-Propano-2 `-deoxyguanosine in Human Cells

Acetaldehyde is an environmentally widespread genotoxic aldehyde present in tobacco smoke, vehicle exhaust and several food products. Endogenously, acetaldehyde is produced by the metabolic oxidation of ethanol by hepatic NAD-dependent alcohol dehydrogenase and during threonine catabolism. The formation of DNA adducts has been regarded as a critical factor in the mechanisms of acetaldehyde mutagenicity and carcinogenesis. Acetaldehyde reacts with 2`-deoxyguanosine in DNA to form primarily N(2)-ethylidene-2`-deoxyguanosine. The subsequent reaction of N(2)-ethylidenedGuo with another molecule of acetaldehyde gives rise to 1,N(2)-propano-2`-deoxyguanosine (1,N(2)-propanodGuo), an adduct also found as a product of the crotonaldehyde reaction with dGuo. However, adducts resulting from the reaction of more than one molecule of acetaldehyde in vivo are still controversial. In this study, the unequivocal formation of 1,N(2)-propanodGuo by acetaldehyde was assessed in human cells via treatment with [(13)C(2)]-acetaldehyde. Detection of labeled 1,N(2)-propanodGuo was performed by HPLC/MS/MS. Upon acetaldehyde exposure (703 mu M), increased levels of both 1,N(2)-etheno-2`-deoxyguanosine (1,N(2)-epsilon dGuo), which is produced from alpha,beta-unsaturated aldehydes formed during the lipid peroxidation process, and 1,N(2)-propanodGuo were observed. The unequivocal formation of 1,N(2)-propanodGuo in cells exposed to this aldehyde can be used to elucidate the mechanisms associated with acetaldehyde exposure and cancer risk.

Dialekter och röstigenkänning : Ett röstigenkännings-API:s förmåga att uppfatta svenska dialekters kännetecken och röstkombinationer

Allt eftersom utvecklingen går framåt inom applikationer och system så förändras också sättet på vilket vi interagerar med systemet på. Hittills har navigering och användning av applikationer och system mestadels skett med händerna och då genom mus och tangentbord. På senare tid så har navigering via touch-skärmar och rösten blivit allt mer vanligt. Då man ska styra en applikation med hjälp av rösten är det viktigt att vem som helst kan styra applikationen, oavsett vilken dialekt man har. För att kunna se hur korrekt ett röstigenkännings-API (Application Programming Interface) uppfattar svenska dialekter så initierades denna studie med dokumentstudier om dialekters kännetecken och ljudkombinationer. Dessa kännetecken och ljudkombinationer låg till grund för de ord vi valt ut till att testa API:et med. Varje dialekt fick alltså ett ord uppbyggt för att vara extra svårt för API:et att uppfatta när det uttalades av just den aktuella dialekten. Därefter utvecklades en prototyp, närmare bestämt en android-applikation som fungerade som ett verktyg i datainsamlingen. Då arbetet innehåller en prototyp och en undersökning så valdes Design and Creation Research som forskningsstrategi med datainsamlingsmetoderna dokumentstudier och observationer för att få önskat resultat. Data samlades in via observationer med prototypen som hjälpmedel och med hjälp av dokumentstudier. Det empiriska data som registrerats via observationerna och med hjälp av applikationen påvisade att vissa dialekter var lättare för API:et att uppfatta korrekt. I vissa fall var resultaten väntade då vissa ord uppbyggda av ljudkombinationer i enlighet med teorin skulle uttalas väldigt speciellt av en viss dialekt. Ibland blev det väldigt låga resultat på just dessa ord men i andra fall förvånansvärt höga. Slutsatsen vi drog av detta var att de ord vi valt ut med en baktanke om att de skulle få låga resultat för den speciella dialekten endast visade sig stämma vid två tillfällen. Det var istället det ord innehållande sje- och tje-ljud som enligt teorin var gemensamma kännetecken för alla dialekter som fick lägst resultat överlag.

Mudanças no hábito de fumar e ganho de peso gestacional : um estudo de coorte em capitais brasileiras

Objetivo: Avaliar a influência de mudanças no hábito de fumar sobre o ganho de peso gravídico materno. Métodos: Foram entrevistadas 5.564 gestantes com 20 anos ou mais, sem diabetes mellitus prévio em serviços de pré-natal geral de seis capitais brasileiras, entre 1991 e 1995, e acompanhamos, através de revisão de prontuários, as gestações até o parto, identificando 4.000 gestantes com peso pré-gravídico relatado, peso medido no terceiro trimestre, hábito de fumar e época de sua eventual modificação, quando disponíveis. Resultados: Entre as gestantes ex-fumantes (915, 23% do total), 240 (26%) pararam de fumar durante a gravidez. A mediana de cigarros/dia das que continuaram fumantes (717, 18%) foi reduzida de 10 para 5 após o início da gravidez. Após ajustar para idade, escolaridade, cor da pele, IMC pré-gravídico, paridade e centro clínico, as ex-fumantes ganharam 1.030 g (IC95% 590 a 1.460) a mais que as nunca fumantes, sendo maior a diferença (1.540, IC95% 780 a 2.300 g) nas que pararam após a concepção. O ganho do peso na gravidez se correlacionou, tanto em fumantes quanto em ex-fumantes, com o número de cigarros diminuídos na gravidez. Conclusão: Diminuir ou parar de fumar na gravidez, embora importante para uma gestação saudável, é fator de risco para ganho de peso materno.

Atitudes relativas a meios de comunicação: um estudo exploratório sobre o Wap

The new economy stimulated by the bigger Internet participation as an interaction mean between people and business has been changing the companies¿ management routine. Nowadays, Internet access goes through telephones, in the houses and offices, or through nets of the Intranet kind, with the users in their working settings. The Internet personal access added, with mobility, surely will bring changes to our contacting form to the outside world as well as it will create a possibility of giving the customers a bigger variety of products and services. The present study aims are: (i) to verify the customers behaviours related to this new media, presented in the mobiles digital screens; (ii) to explore some of their main features, and (iii) to compare them with the other media features, as the radio and the TV ones. The applied research methodology was the data collecting through phone interviews. To obtain a Confidence Interval of 95%, 470 WAP, Internet, radio and TV current users¿ answers were gotten. To compare the media, the Fishbein multi-attributes model was used what possibilities to form comparative scores of the attributes built for the research. To mark the discussion concerning the public behaviour related to the differentiated use of the mentioned media out, the study produced uses the McLuhan theoretical reference (1969), specially concerning to his theoretical building, denominated hot and cold means. But this referential theoretic mark could not be supported by the accomplished quantitative study result. The comparison of built attribute scores averages has differentiated the hot media WAP, like radio, as well as the cold media one, like TV. This way, showing that the access new technology appearance, WAP, not only enlarges the Internet use, but also appoints to a new theoretic classification possibility to this new media. The accomplished quantitative research revealed that, through the user point of view, the ¿Contents¿ category is considered as one of the most important WAP aspects. The TV and the radio received significantly lower grades in this subject. The public considers that is important that the WAP information is ¿trustworthy¿, ¿easy¿ to find, ¿available¿, ¿sufficient¿ and that attends the ¿urgency¿ expected by the user. It was observed that the WAP score ¿emotion¿ is inferior to the radio and TV and superior to the Internet ones. But, the differences found are not significant. Considering the low score of importance given to the attributes group ¿emotion¿, is not recommended the WAP use as media when the emotional users aspects are wanted to be reached.

Estudo da efetividade de barreiras de amortecimento no controle de vibrações geradas pelo desmonte com explosivos em mina de carvão à céu aberto

Este trabalho apresenta o estudo da efetividade de barreiras de amortecimento para atenuar a vibração causada pela propagação de ondas sísmicas oriundas de detonações. A barreira consta de uma porção do terreno cujas características de propagação são modificadas artificialmente pela detonação de uma linha de furos com parâmetros idênticos aos dos furos de produção. Os resultados obtidos demonstram a efetividade deste recurso, evidenciado pelo coeficiente de redução entre os valores de vibração gerados em situações com e sem o uso de barreira (0,41) e também através da mudança dos coeficientes da equação de previsão via Distância Escalonada, possibilitando em escala de produção o aumento na carga máxima por tempo de retardo ( 4,9 % à 118,9% ), com redução de custos devido ao menor consumo de retardos por furo ( -5,7 % à - 40,7 % ).

Sequential cost-reimbursement rules

This paper studies cost-sharing rules under dynamic adverse selection. We present a typical principal-agent model with two periods, set up in Laffont and Tirole's (1986) canonical regulation environment. At first, when the contract is signed, the firm has prior uncertainty about its efficiency parameter. In the second period, the firm learns its efficiency and chooses the level of cost-reducing effort. The optimal mechanism sequentially screens the firm's types and achieves a higher level of welfare than its static counterpart. The contract is indirectly implemented by a sequence of transfers, consisting of a fixed advance payment based on the reported cost estimate, and an ex-post compensation linear in cost performance.

Financiamento público à indústria de exibição cinematográfica: um estudo de caso no Brasil

O objetivo deste trabalho é avaliar o impacto da criação de linhas de financiamento ao parque exibidor cinematográfico brasileiro, uma das formas existentes de incentivo governamental ao setor. Os desembolsos avaliados, realizados pelo BNDES com recursos do Procult e do FSA de 2007 a 2012, consistem em crédito de longo prazo para a criação de salas de cinema, com juros abaixo do mercado e estrutura de garantias flexível. A metodologia econométrica utilizada é o controle sintético, tal como formalizada por Abadie et al. (2010). Sob esse método, não foi possível identificar contribuição positiva da política de crédito quando se confronta o desempenho individual dos exibidores beneficiados versus seus respectivos controles sintéticos, medido pela evolução das variáveis número de salas e público. Ademais, testou-se um possível efeito agregado, considerando a evolução do número de ingressos per capita no Brasil, também não sendo possível identificar contribuição positiva da política sobre tal indicador.

Touch ‘n’ sketch: pen and fingers on a multi-touch sketch application for tablet PC’s

In many creative and technical areas, professionals make use of paper sketches for developing and expressing concepts and models. Paper offers an almost constraint free environment where they have as much freedom to express themselves as they need. However, paper does have some disadvantages, such as size and not being able to manipulate the content (other than remove it or scratch it), which can be overcome by creating systems that can offer the same freedom people have from paper but none of the disadvantages and limitations. Only in recent years has the technology become massively available that allows doing precisely that, with the development in touch‐sensitive screens that also have the ability to interact with a stylus. In this project a prototype was created with the objective of finding a set of the most useful and usable interactions, which are composed of combinations of multi‐touch and pen. The project selected Computer Aided Software Engineering (CASE) tools as its application domain, because it addresses a solid and well‐defined discipline with still sufficient room for new developments. This was the result from the area research conducted to find an application domain, which involved analyzing sketching tools from several possible areas and domains. User studies were conducted using Model Driven Inquiry (MDI) to have a better understanding of the human sketch creation activities and concepts devised. Then the prototype was implemented, through which it was possible to execute user evaluations of the interaction concepts created. Results validated most interactions, in the face of limited testing only being possible at the time. Users had more problems using the pen, however handwriting and ink recognition were very effective, and users quickly learned the manipulations and gestures from the Natural User Interface (NUI).

De touch: extending service channels in an airport through touch technologies

This project aimed to create a communication and interaction channel between Madeira Airport and its passengers. We used the pre-existent touch enabled screens at the terminal since their potential was not being utilised to their full capacity. To achieve our goal, we have followed an agile strategy to create a testable prototype and take advantages of its results. The developed prototype is based on a plugin architecture turning it into a maintainable and highly customisable system. The collected usage data suggests that we have achieved the initially defined goals. There is no doubt that this new interaction channel is an improvement regarding the provided services and, supported by the usage data, there is an opportunity to explore additional developments to the channel.