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.

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.

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.

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.

Crescimento e produção de antúrio cultivado sob diferentes malhas de sombreamento

O uso de malhas ou filmes plásticos de diferente naturezas ou cores pode alterar a qualidade espectral da radiação e, como consequência, o crescimento e a produção de uma cultura vegetal. O objetivo do presente trabalho foi avaliar aspectos do crescimento e da produção de Anthurium andraeanum 'Apalai' sob diferentes malhas de sombreamento. Para tal, mudas micropropagadas foram plantadas em canteiros sob quatro malhas com 70% de sombreamento (azul, vermelha, preta e termo-refletora). O delineamento experimental foi inteiramente casualizado, com quatro tratamentos e quatro repetições de quatro plantas úteis por parcela. As avaliações foram realizadas durante 12 meses, sendo iniciadas após a produção de hastes florais comercializáveis. A malha preta se sobressaiu em relação às demais, proporcionando a melhor condição para crescimento e produção do antúrio, bem como as maiores dimensões da haste floral, que são consideradas atributos de qualidade para flor de corte.

Efeito da luz no crescimento de mudas de Hymenaea parvifolia Huber

Este trabalho teve como objetivo determinar o efeito da intensidade de luz no crescimento de mudas de Hymenaea parvifolia Huber., bem como inferir sobre o seu grau de tolerância à sombra. Para tal, foi instalado um experimento em delineamento inteiramente casualizado, com quatro tratamentos (níveis de luz): pleno sol (PS), 50% de sombreamento, 70% de sombreamento e sombreamento natural (SN). Os níveis de 50 e 70% de sombreamento foram obtidos com o uso de telas de polipropileno preto, e o sombreamento natural constituiu a luminosidade natural sob um dossel fechado de floresta. Cada tratamento foi constituído de 10 repetições. Plantas sob sombreamento (50% e 70% de sombreamento) apresentaram maior altura, área foliar e razão de área foliar e poucas diferenças no acúmulo de massa seca quando comparadas com plantas mantidas a pleno sol. Como conseqüência, poucas diferenças foram observadas na taxa de crescimento relativo das mudas desses tratamentos. Todavia, mudas mantidas sob sombreamento natural foram as que exibiram menor taxa de crescimento relativo e taxa assimilatória líquida. em conjunto, os resultados indicaram que Hymenaea parvifolia foi capaz de se ajustar para maximizar a aquisição de luz mesmo em condição muito limitante, como a proporcionada pelo sombreamento natural, e a produção de mudas dessa espécie vegetal pode ser realizada em viveiro desde a pleno sol, como a 50% ou 70% de sombreamento.

Estudo dos genes do complexo do antígeno leucocitário humano (hla) associados à susceptibilidade ao diabetes mellitus tipo 1

Of all of the genes associated with the development of Diabetes mellitus type 1 (T1D), the largest contribution comes from the genes in the Human Leukocyte Antigen (HLA) region, mostly the class II DR e DQ genes. Specific combinations of alleles DRB1, DQA1 and DQB1 constituting haplotypes, and further, a combination of more than one haplotype, providing multilocus genotypes are associated with susceptibility, protection and neutrality to DM1. Thus, the aim of present study was to verified the association of polymorphisms of HLA genes class II with susceptibility to type 1 diabetes mellitus (T1D). Ninety-two patients with T1D and 100 individuals normoglycemics (NG) aged between 6 and 20 years were studied. Genomic DNA was obtained from peripheral whole blood, collected in EDTA tube, using the extraction kit Illustra Triple Prep®, GE Healthcare. For HLA typing was used DNA LABType system by One Lambda kit applying Luminex® technology to the method of PCRSSO typing reverse. The alleles DRB1*03:01, *04:05, *04:01, *04:02, DQA1*03:01g, *05:01g, DQB1*02:01g, *03:02, the haplotypes DRB1*03:01-DQA1*05:01-DQB1*02:01, DRB1*04:05-DQA1*03:01g-DQB1*03:02, DRB1*04:02-DQA1*03:01g-DQB1*03:02, DRB1*04:01-DQA1*03:01g-DQB1*03:02 and DR3-DQ2/DR4-DQ8 genotype were significantly associated with the chance of developing T1D. The alleles DRB1*11:01, *15:03, *15:01, *13:01, DQA1*01:02, *04:01g, *01:03, DQB1*06:02, *03:01g, *06:03, *04:02, the haplotypes DRB1*11:01-DQA1*05:01-DQB1*03:01, DRB1*13:01-DQA1*01:03-DQB1*06:03 and DRX-DQX/DRX-DQX genotype, formed by other than the DR3-DQ2 or DR4-DQ8 haplotypes, were significantly associated with T1D protection Despite the major racial Brazilian, even at the regional level, these results are similar to the majority of alleles, genotypes and haplotypes of HLA class II-related susceptibility or resistance to T1D, extensively described in the literature for Caucasian population. Children with age at diagnosis less than 5 years of age had significantly higher frequency of the heterozygous genotype DR3-DQ2/DR4-DQ8 compared to children with age at diagnosis than 5 years old. These results also demonstrate strong association of the genetic profile of the class II HLA for this age group, possibly associated with the severity and rapid progression to the onset of T1D. The knowledge of HLA class II genes may be useful in genetic screens that allow the prediction of T1D

Análise e otimização de superfícies seletivas de Frequência utilizando redes neurais artificiais e algoritmos de otimização natural

The bidimensional periodic structures called frequency selective surfaces have been well investigated because of their filtering properties. Similar to the filters that work at the traditional radiofrequency band, such structures can behave as band-stop or pass-band filters, depending on the elements of the array (patch or aperture, respectively) and can be used for a variety of applications, such as: radomes, dichroic reflectors, waveguide filters, artificial magnetic conductors, microwave absorbers etc. To provide high-performance filtering properties at microwave bands, electromagnetic engineers have investigated various types of periodic structures: reconfigurable frequency selective screens, multilayered selective filters, as well as periodic arrays printed on anisotropic dielectric substrates and composed by fractal elements. In general, there is no closed form solution directly from a given desired frequency response to a corresponding device; thus, the analysis of its scattering characteristics requires the application of rigorous full-wave techniques. Besides that, due to the computational complexity of using a full-wave simulator to evaluate the frequency selective surface scattering variables, many electromagnetic engineers still use trial-and-error process until to achieve a given design criterion. As this procedure is very laborious and human dependent, optimization techniques are required to design practical periodic structures with desired filter specifications. Some authors have been employed neural networks and natural optimization algorithms, such as the genetic algorithms and the particle swarm optimization for the frequency selective surface design and optimization. This work has as objective the accomplishment of a rigorous study about the electromagnetic behavior of the periodic structures, enabling the design of efficient devices applied to microwave band. For this, artificial neural networks are used together with natural optimization techniques, allowing the accurate and efficient investigation of various types of frequency selective surfaces, in a simple and fast manner, becoming a powerful tool for the design and optimization of such structures

Sistemas de automação e supervisão do laboratório de avaliação dos processos de medição de vazão e BSW

During a petroleum well production process, It is common the slmultaneous oil and water production, in proportion that can vary from 0% up to values close to 100% of water. Moreover, the production flows can vary a lot, depending on the charaeteristies of eaeh reservoir. Thus being, the meters used in field for the flow and BSW (water in the oil) measurement must work well in wide bands of operation. For the evaluation of the operation of these meters, in the different operation conditions, a Laboratory will be built in UFRN, that has for objective to evaluate in an automatic way the processes of flow and BSW petroleum measurement, considering different operation conditions. The good acting of these meters is fundamental for the accuracy of the measures of the volumes of production liquid and rude of petroleum. For the measurement of this production, the petroleum companies use meters that should indicate the values with tha largast possible accuracy and to respect a series of conditions and minimum requirements, estabelished by the united Entrance ANP/INMETRO 19106/2000. The laboratory of Evafuation of the Processes of Measurement of Flow and BSW to be built will possess an oil tank basically, a tank of water, besides a mixer, a tank auditor, a tank for separation and a tank of residues for discard of fluids, fundamental for the evaluation of the flow metars and BSW. The whole process will be automated through the use of a Programmable Logicat Controller (CLP) and of a supervisory system.This laboratory besides allowing the evaluation of flow meters and BSW used by petroleum companies, it will make possible the development of researches related to the automation. Besides, it will be a collaborating element to the development of the Computer Engineering and Automation Department, that it will propitiate the evolution of the faculty and discente, qualifying them for a job market in continuous growth. The present work describes the project of automation of the laboratory that will be built at of UFRN. The system will be automated using a Programmable Logical Controller and a supervisory system. The programming of PLC and the screens of the supervisory system were developed in this work

Uso de malhas pigmentadas e mulching em túneis para cultivo de rúcula: efeito no ambiente e nas plantas modelo

O uso de malhas pigmentadas em cultivos de hortaliças folhosas permite a melhor adequação do ambiente às plantas, com destaque para a rúcula. Essa hortaliça vem conquistando maior espaço no mercado consumidor brasileiro desde o final da década de 90. Essa pesquisa teve por objetivo avaliar as condições ambientais proporcionadas pelo uso de telas pigmentadas na cobertura de túneis de cultivo, relacionando com as respostas agronômicas da rúcula, cultivada dentro desses túneis sobre diferentes coberturas de solo. As coberturas de túneis foram: a Chromatinet® azul, Chromatinet® vermelha, tela aluminizada prata, Sombrite® 50% e filme plástico transparente de polietileno de baixa densidade de 100µ. As coberturas de solo, também denominadas mulchings, dentro dos túneis foram: o filme plástico de polietileno de cor preta; de polietileno de dupla-face nas cores preta e branca, com a face branca voltada para cima; casca de arroz e a ausência de mulching. O delineamento utilizado foi o de blocos ao acaso com 24 tratamentos e três repetições. Nas condições do experimento, o emprego de algumas coberturas de túnel e de solo modificou o ambiente e melhorou as respostas agronômicas das plantas de rúcula.