A homozygous mutation in LTBP2 causes isolated microspherophakia

Microspherophakia is an autosomal-recessive congenital disorder characterized by small spherical lens. It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-metaphyseal dysplasia. The purpose of this study was to map and identify the gene for isolated microspherophakia in two consanguineous Indian families. Using a whole-genome linkage scan in one family, we identified a likely locus for microspherophakia (MSP1) on chromosome 14q24.1-q32.12 between markers D14S588 and D14S1050 in a physical distance of 22.76 Mb. The maximum multi-point lod score was 2.91 between markers D14S1020 and D14S606. The MSP1 candidate region harbors 110 reference genes. DNA sequence analysis of one of the genes, LTBP2, detected a homozygous duplication (insertion) mutation, c.5446dupC, in the last exon (exon 36) in affected family members. This homozygous mutation is predicted to elongate the LTBP2 protein by replacing the last 6 amino acids with 27 novel amino acids. Microspherophakia in the second family did not map to this locus, suggesting genetic heterogeneity. The present study suggests a role for LTBP2 in the structural stability of ciliary zonules, and growth and development of lens.

Social networks for volunteered geographic information - A case study of OpenStreetMap

The world of mapping has changed. Earlier, only professional experts were responsible for map production, but today ordinary people without any training or experience can become map-makers. The number of online mapping sites, and the number of volunteer mappers has increased significantly. The development of the technology, such as satellite navigation systems, Web 2.0, broadband Internet connections, and smartphones, have had one of the key roles in enabling the rise of volunteered geographic information (VGI). As opening governmental data to public is a current topic in many countries, the opening of high quality geographical data has a central role in this study. The aim of this study is to investigate how is the quality of spatial data produced by volunteers by comparing it with the map data produced by public authorities, to follow what occurs when spatial data are opened for users, and to get acquainted with the user profile of these volunteer mappers. A central part of this study is OpenStreetMap project (OSM), which aim is to create a map of the entire world by volunteers. Anyone can become an OpenStreetMap contributor, and the data created by the volunteers are free to use for anyone without restricting copyrights or license charges. In this study OpenStreetMap is investigated from two viewpoints. In the first part of the study, the aim was to investigate the quality of volunteered geographic information. A pilot project was implemented by following what occurs when a high-resolution aerial imagery is released freely to the OpenStreetMap contributors. The quality of VGI was investigated by comparing the OSM datasets with the map data of The National Land Survey of Finland (NLS). The quality of OpenStreetMap data was investigated by inspecting the positional accuracy and the completeness of the road datasets, as well as the differences in the attribute datasets between the studied datasets. Also the OSM community was under analysis and the development of the map data of OpenStreetMap was investigated by visual analysis. The aim of the second part of the study was to analyse the user profile of OpenStreetMap contributors, and to investigate how the contributors act when collecting data and editing OpenStreetMap. The aim was also to investigate what motivates users to map and how is the quality of volunteered geographic information envisaged. The second part of the study was implemented by conducting a web inquiry to the OpenStreetMap contributors. The results of the study show that the quality of OpenStreetMap data compared with the data of National Land Survey of Finland can be defined as good. OpenStreetMap differs from the map of National Land Survey especially because of the amount of uncertainty, for example because of the completeness and uniformity of the map are not known. The results of the study reveal that opening spatial data increased notably the amount of the data in the study area, and both the positional accuracy and completeness improved significantly. The study confirms the earlier arguments that only few contributors have created the majority of the data in OpenStreetMap. The inquiry made for the OpenStreetMap users revealed that the data are most often collected by foot or by bicycle using GPS device, or by editing the map with the help of aerial imageries. According to the responses, the users take part to the OpenStreetMap project because they want to make maps better, and want to produce maps, which have information that is up-to-date and cannot be found from any other maps. Almost all of the users exploit the maps by themselves, most popular methods being downloading the map into a navigator or into a mobile device. The users regard the quality of OpenStreetMap as good, especially because of the up-to-dateness and the accuracy of the map.

Existence Theorems for Generalized Hammerstein Equations

In this paper we obtain existence theorems for generalized Hammerstein-type equations K(u)Nu + u = 0, where for each u in the dual X* of a real reflexive Banach space X, K(u): X -- X* is a bounded linear map and N: X* - X is any map (possibly nonlinear). The method we adopt is totally different from the methods adopted so far in solving these equations. Our results in the reflexive spacegeneralize corresponding results of Petry and Schillings.

Isolation of an 800 kb contiguous DNA fragment encompassing a 3.5-cM region of chromosome 1 in Arabidopsis using YAC clones

The apetalal mutation of Arabidopsis affects floral meristem identity and the development of sepal and petal primordia of the flower. We mapped the available RFLP markers on chromosome 1 that are in the general vicinity of apetalal on a fine structure map and then chose the closest RFLP as a starting point for contiguous DNA (contig) generation. We report here a contig of about 800 kilobases (kb) that spans a 3.5 cM region of chromosome 1. We used genomic libraries of Arabidopsis prepared in yeast artificial chromosome (YAC) vectors and the detailed characterization of 19 YACs is reported. RFLPs displayed by the end fragments from the walk were mapped to align and correlate the genetic and physical maps for this region of chromosome 1. In this segment of the genome, 1 cM corresponds to a little over 200 kb of physical distance.

Seismic Microzonation of Bangalore - Preliminary Maps

This paper presents an overview of the seismic microzonation and the grade/level based study along with methods used for estimating hazard. The principles of seismic microzonation along with some current practices are discussed. Summary of seismic microzonation experiments carried out in India is presented. A detailed work of seismic microzonation of Bangalore has been presented as a case study. In this case study, a seismotectonic map for microzonation area has been developed covering 350 km radius around Bangalore, India using seismicity and seismotectonic parameters of the region. For seismic microzonation Bangalore Mahanagar Palike (BMP) area of 220 km2 has been selected as the study area. Seismic hazard analysis has been carried out using deterministic as well as probabilistic approaches. Synthetic ground motion at 653 locations, recurrence relation and peak ground acceleration maps at rock level have been generated. A detailed site characterization has been carried out using borehole with standard penetration test (SPT) ―N‖ values and geophysical data. The base map and 3-dimensional sub surface borehole model has been generated for study area using geographical information system (GIS). Multichannel analysis of surface wave (MASW)method has been used to generate one-dimensional shear wave velocity profile at 58 locations and two- dimensional profile at 20 locations. These shear wave velocities are used to estimate equivalent shear wave velocity in the study area at every 5m intervals up to a depth of 30m. Because of wider variation in the rock depth, equivalent shear for the soil overburden thickness alone has been estimated and mapped using ArcGIS 9.2. Based on equivalent shear wave velocity of soil overburden thickness, the study area is classified as ―site class D‖. Site response study has been carried out using geotechnical properties and synthetic ground motions with program SHAKE2000.The soil in the study area is classified as soil with moderate amplification potential. Site response results obtained using standard penetration test (SPT) ―N‖ values and shear wave velocity are compared, it is found that the results based on shear wave velocity is lower than the results based on SPT ―N‖ values. Further, predominant frequency of soil column has been estimated based on ambient noise survey measurements using instruments of L4-3D short period sensors equipped with Reftek 24 bit digital acquisition systems. Predominant frequency obtained from site response study is compared with ambient noise survey. In general, predominant frequencies in the study area vary from 3Hz to 12Hz. Due to flat terrain in the study area, the induced effect of land slide possibility is considered to be remote. However, induced effect of liquefaction hazard has been estimated and mapped. Finally, by integrating the above hazard parameters two hazard index maps have been developed using Analytic Hierarchy Process (AHP) on GIS platform. One map is based on deterministic hazard analysis and other map is based on probabilistic hazard analysis. Finally, a general guideline is proposed by bringing out the advantages and disadvantages of different approaches.

A generalized geo-hazard warning system

An automated geo-hazard warning system is the need of the hour. It is integration of automation in hazard evaluation and warning communication. The primary objective of this paper is to explain a geo-hazard warning system based on Internet-resident concept and available cellular mobile infrastructure that makes use of geo-spatial data. The functionality of the system is modular in architecture having input, understanding, expert, output and warning modules. Thus, the system provides flexibility in integration between different types of hazard evaluation and communication systems leading to a generalized hazard warning system. The developed system has been validated for landslide hazard in Indian conditions. It has been realized through utilization of landslide causative factors, rainfall forecast from NASA's TRMM (Tropical Rainfall Measuring Mission) and knowledge base of landslide hazard intensity map and invokes the warning as warranted. The system evaluated hazard commensurate with expert evaluation within 5-6 % variability, and the warning message permeability has been found to be virtually instantaneous, with a maximum time lag recorded as 50 s, minimum of 10 s. So it could be concluded that a novel and stand-alone system for dynamic hazard warning has been developed and implemented. Such a handy system could be very useful in a densely populated country where people are unaware of the impending hazard.

Method for Seismic Microzonation with Geotechnical Aspects

This study presents an overview of seismic microzonation and existing methodologies with a newly proposed methodology covering all aspects. Earlier seismic microzonation methods focused on parameters that affect the structure or foundation related problems. But seismic microzonation has generally been recognized as an important component of urban planning and disaster management. So seismic microzonation should evaluate all possible hazards due to earthquake and represent the same by spatial distribution. This paper presents a new methodology for seismic microzonation which has been generated based on location of study area and possible associated hazards. This new method consists of seven important steps with defined output for each step and these steps are linked with each other. Addressing one step and respective result may not be seismic microzonation, which is practiced widely. This paper also presents importance of geotechnical aspects in seismic microzonation and how geotechnical aspects affect the final map. For the case study, seismic hazard values at rock level are estimated considering the seismotectonic parameters of the region using deterministic and probabilistic seismic hazard analysis. Surface level hazard values are estimated considering site specific study and local site effects based on site classification/characterization. The liquefaction hazard is estimated using standard penetration test data. These hazard parameters are integrated in Geographical Information System (GIS) using Analytic Hierarchy Process (AHP) and used to estimate hazard index. Hazard index is arrived by following a multi-criteria evaluation technique - AHP, in which each theme and features have been assigned weights and then ranked respectively according to a consensus opinion about their relative significance to the seismic hazard. The hazard values are integrated through spatial union to obtain the deterministic microzonation map and probabilistic microzonation map for a specific return period. Seismological parameters are widely used for microzonation rather than geotechnical parameters. But studies show that the hazard index values are based on site specific geotechnical parameters.

NON-DIMENSIONAL KINETOELASTOSTATIC MAPS FOR COMPLIANT MECHANISMS

How do we assess the capability of a compliant mechanism of given topology and shape? The kinetoelastostatic maps proposed in this paper help answer this question. These maps are drawn in 2D using two non-dimensional quantities, one capturing the nonlinear static response and the other the geometry, material, and applied forces. Geometrically nonlinear finite element analysis is used to create the maps for compliant mechanisms consisting of slender beams. In addition to the topology and shape, the overall proportions and the proportions of the cross-sections of the beam segments are kept fixed for a map. The finite region of the map is parameterized using a non-dimensional quantity defined as the slenderness ratio. The shape and size of the map and the parameterized curves inside it indicate the complete kinetoelastostatic capability of the corresponding compliant mechanism of given topology, shape, and fixed proportions. Static responses considered in this paper include input/output displacement, geometric amplification, mechanical advantage, maximum stress, etc. The maps can be used to compare mechanisms, to choose a suitable mechanism for an application, or re-design as may be needed. The usefulness of the non-dimensional maps is presented with multiple applications of different variety. Non-dimensional portrayal of snap-through mechanisms is one such example. The effect of the shape of the cross-section of the beam segments and the role of different segments in the mechanism as well as extension to 3D compliant mechanisms, the cases of multiple inputs and outputs, and moment loads are also explained. The effects of disproportionate changes on the maps are also analyzed.

Experimental investigation of a control method for SI-HCCI-SI transition in a multi-cylinder gasoline engine

In HCCI engines, the Air/Fuel Ratio (AFR) and Residual Gas Fraction (RGF) are difficult to control during the SI-HCCI-SI transition, and this may result in incomplete combustion and/or high pressure raise rates. As a result, there may be undesirably high engine load fluctuations. The objectives of this work are to further understand this process and develop control methods to minimize these load fluctuations. This paper presents data on instantaneous AFR and RGF measurements, both taken by novel experimental techniques. The data provides an insight into the cyclic AFR and RGF fluctuations during the switch. These results suggest that the relatively slow change in the intake Manifold Air Pressure (MAP) and actuation time of the Variable Valve Timing (VVT) are the main causes of undesired AFR and RGF fluctuations, and hence an unacceptable Net IMEP (NIMEP) fluctuation. We also found large cylinder-to-cylinder AFR variations during the transition. Therefore, besides throttle opening control and VVT shifting, cyclic and individual cylinder fuel injection control is necessary to achieve a smooth transition. The control method was developed and implemented in a test engine, and the result was a considerably reduced NIMEP fluctuation during the mode switch. The instantaneous AFR and RGF measurements could furthermore be adopted to develop more sophisticated control methods for SI-HCCI-SI transitions. © 2010 SAE International.

I. The crystal structure of a new dimer of triphenylfluorocyclobutadiene. II. A low temperature refinement of the cyanuric triazide structure

I. THE CRYSTAL STRUCTURE OF A NEW DIMER OF TRIPHENYLFLUOROCYCLOBUTADIENE

The crystal structure of thermal isomer of the “head-to-head” dimer of triphenylfluorocyclobutadiene was determined by the direct method. The Σ₂ relationship involving the low angle reflections with the largest E’s were found and solved for the signs by the symbolic method of Zachariasen. The structure was seen in the electron density map and the E-map, and was refined antisotropically by the method of least squares. The residual R was 0.065.

The structure is a gem-difluorohexaphenyldihydropentalene. All of the phenyl groups are planar as it is the cyclopentadiene ring of the dihydropentalene skeleton. Overcrowding at the position of the flourines causes some deviations from the normal bond angles in the cyclopentene ring.

The list of observed and calculated structure factors on pages 32-34 will not be legible on the microfilm. Photographic copies may be obtained from the California Institute of Technology.

II. A LOW TEMPERATURE REFINEMENT OF THE CYANURIC TRIAZIDE STRUCTURE

The structure of cyanuric triazide was refined anisotropically by the method of least squares. Three-dimensional intensity data, which has been collected photographically with MoK_α radiation at -110˚C, were used in the refinement. The residual R was reduced to 0.081.

The structure is completely planar, and there is no significant bond alternation in the cyanuric ring. The packing of the molecules causes the azide groups to deviate from linearity by 8 degrees.

De menor a criança, de criança a filho: discursos de adoção

A presente tese teve como objetivo primordial cartografar e analisar algumas instituições e mitos que potencializaram, no contexto do estado do Rio de Janeiro, a emergência e a legitimação da prática da adoção-pronta. Por adoção-pronta, entendemos as solicitações de adoções que aportam nos Juizados da Infância e da Juventude como fato consumado, isto é, a criança a ser adotada já se encontra, concretamente, com os requerentes que pretendem regularizar uma situação instituída. Essa medida, via de regra, sustenta-se num tripé: uma mãe que entrega, um casal que acolhe e discursos de especialistas, dentre eles, psicólogos e assistentes sociais, que ratificam tal relação. A amostragem da pesquisa foi composta por dez processos de adoção-pronta, sendo cinco na vigência do Código de Menores e cinco sob a ótica do Estatuto da Criança e do Adolescente. A genealogia histórica de Foucault, as ferramentas da Análise Institucional bem como a Análise e a Ordem do Discurso de Orlandi e Foucault foram, nesse percurso, os recortes metodológicos priorizados. As análises permitiram constatar que são pobres, jovens, solteiras e empregadas domésticas as mulheres-mães que entregam seus filhos em adoção. Os que acolhem, em sua maioria, são legalmente casados, economicamente ativos, possuem filhos e, não mantém com a mãe biológica, laços de parentalidade. Os laudos técnicos, via de regra, têm colocado, na mãe pobre, a responsabilidade e a autonomia pelo ato de entrega e, portanto, vêm funcionando como instrumentos de produção e sustentação de subjetividades, tais como a de mãe desnaturada. Em síntese, as análises nos possibilitaram concluir que os discursos dos especialistas longe de afirmarem a ineficácia das políticas públicas como co-autoras dos processos de destituição do poder familiar, vêm afirmando a adoção-pronta como prática de repercussão pública, isto é, enquanto uma solução-alternativa ao quadro de pobreza de cidadania.

Aperfeiçoamento da previsão global em séries temporais caóticas

A previsão de valores futuros em séries temporais produzidas por sistemas caóticos pode ser aplicada em diversas áreas do conhecimento como Astronomia, Economia, Física, Medicina, Meteorologia e Oceanografia. O método empregado consiste na reconstrução do espaço de fase seguido de um termo de melhoria da previsão. As rotinas utilizadas para a previsão e análise nesta linha de pesquisa fazem parte do pacote TimeS, que apresenta resultados encorajadores nas suas aplicações. O aperfeiçoamento das rotinas computacionais do pacote com vistas à melhoria da acurácia obtida e à redução do tempo computacional é construído a partir da investigação criteriosa da minimização empregada na obtenção do mapa global. As bases matemáticas são estabelecidas e novas rotinas computacionais são criadas. São ampliadas as possibilidades de funções de ajuste que podem incluir termos transcendentais nos componentes dos vetores reconstruídos e também possuir termos lineares ou não lineares nos parâmetros de ajuste. O ganho de eficiência atingido permite a realização de previsões e análises que respondem a perguntas importantes relacionadas ao método de previsão e ampliam a possibilidade de aplicações a séries reais.

O jogo e os jogos: o jogo da leitura, o jogo de xadrez e a sanidade mental em A defesa Lujin, de Vladimir Nabokov

No romance A defesa Lujin, de Vladimir Nabokov, publicado em russo em 1930, o texto procura levar o leitor a adotar processos mentais similares ao de um jogador de xadrez e de um esquizofrênico, características do personagem-título do romance. Delineiam-se as expectativas e circunstâncias de um ser de papel que se vê jogando um xadrez em que também é peça e traçam-se paralelos com as expectativas e circunstâncias do leitor perante esse texto literário. O prefácio de Nabokov à edição em inglês de 1964 é tomado como indício de um leitor e um autor implícitos que ele procura moldar. Para análise dos elementos textuais e níveis de abstração mental envolvidos, recorre-se à estética da recepção de Wolfgang Iser e a diversas ideias do psiquiatra e etnólogo Gregory Bateson, entre elas o conceito de duplo vínculo, com atenção às distinções entre mapa/território e play/game. Um duplo duplo vínculo é perpetrado na interação leitor-texto: 1) o leitor é convidado a sentir empatia pela situação do personagem Lujin e a considerá-lo lúcido e louco ao mesmo tempo; e 2) o leitor é colocado como uma instância pseudo-transcendental incapaz de comunicação com a instância inferior (Lujin), gerando uma angústia diretamente relacionável ao seu envolvimento com a ficção, replicando de certa forma a loucura de Lujin. A sinestesia do personagem Lujin é identificada como um dos elementos do texto capaz de recriar a experiência de jogar xadrez até para quem não aprecia o jogo. Analisa-se a conexão entre a esquizofrenia ficcional do personagem Lujin e a visão batesoniana do alcoolismo

Agentes Comunitários de Saúde, formação e perfil profissional: o caso de Duque de Caxias, RJ

Este estudo teve como objetivo analisar o perfil de trabalho e descrever a formação profissional dos Agentes Comunitários de Saúde (ACS) no Município de Duque de Caxias. Trata-se de um estudo descritivo e de abordagem quantitativa e qualitativa, com base em uma perspectiva de triangulação de métodos. A pesquisa foi dividida em dois momentos distintos durante a coleta de dados. No primeiro, reuniram-se informações que configurassem todo o histórico de implementação do trabalho dos ACS, desde o surgimento das primeiras equipes. No segundo momento, aplicou-se um questionário aos 51 ACS que compõem o quadro funcional, sendo 23 de unidades da Estratégia Saúde da Família (ESF) e 28 da Equipe de Agentes Comunitários de Saúde (EACS). Foram também realizadas entrevistas individuais com oito participantes. Na análise dos dados, foi possível: a) construir a trajetória histórica dos ACS no Município, incluindo seu perfil sociodemográfico; b) mapear e descrever o perfil e condições de trabalho, a formação dos ACS, o interesse e as motivações quanto à profissão, as atividades de educação em saúde realizadas e o vínculo do ACS com o enfermeiro. O campo de pesquisa foi o município de Duque de Caxias, situado na Baixada Fluminense, no Estado do Rio de Janeiro. Os resultados mostram que a maioria dos participantes é do sexo feminino (94,1%), se encontrava na faixa etária entre 40-49 anos (43%), possui o segundo grau completo (72,5%); por outro lado, apenas 29,4% participam de alguma associação ou sindicato que represente a categoria, 84,3%, atuam em média há mais de sete anos, 84,3 % consideram o seu serviço gerador de estresse, 62,7% não tiveram acesso a algum curso/capacitação antes de serem inseridos na prática. Entre os motivos para atuar como um ACS, citam-se: ajudar a comunidade, estar perto dos filhos e trabalhar perto de casa; já entre as desvantagens do trabalho estão condições precárias de trabalho e baixo salário/vinculo trabalhista precário. Entre as atividades educativas mais realiza, as orientações individuais sobre doenças predominou com 94,1%. Entre os ACS que atuam na ESF, o enfermeiro se destacam, por serem os profissionais que mais o acompanham na prática da educação em saúde (33,3%), seguido pelo dentista (29,2%). Conclui-se que os agentes apresentam fragilidades em reconhecer as suas atribuições no desempenho de suas atividades. A formação recebida se apresenta fora da proposta de mudança de modelo. Uma formação ampliada que permita uma maior compreensão de sua inserção profissional dentro da sociedade e especificamente no campo da saúde poderia mediar o reconhecimento e identidade profissional dos ACS que participaram deste estudo. Esta pesquisa está vinculada ao Grupo de Pesquisa Configurações do Trabalho, Saúde dos Trabalhadores e Enfermagem e à Pesquisa O trabalho dos Agentes Comunitários de saúde do Estado do Rio de Janeiro: análise comparativa entre municípios e regiões.

Identificações do feminino em materiais didáticos contemporâneos

Dada a persistente restrição da presença feminina em diferentes espaços-tempos das sociedades contemporâneas, desenvolvemos esta pesquisa com o objetivo de discutir os significados atribuídos ao feminino em materiais didáticos da atualidade. Partindo da hipótese de que a educação escolar, embora não determine, participa dos processos sociais que resultam em tal quadro de subalternização da mulher, focalizamos as apostilas utilizadas pelos anos finais do ensino fundamental das escolas públicas da rede da Secretaria Municipal de Educação da Cidade do Rio de Janeiro, durante o ano de 2013. Foram selecionadas as apostilas das disciplinas Ciência, História e Matemática. Desenvolvemos também estudo sobre a apropriação da noção de gênero na produção acadêmica recente da pesquisa em Educação, de modo a mapear e discutir sobre esta outra importante instância de atribuição de sentido ao ser mulher. Em diálogo com o filósofo Jacques Derrida e suas teorizações sobre os processos sociais de construção de sentidos, nossas análises se basearam no entendimento de que as palavras possuem significados instáveis, provisórios e precários, instituídos de modo relacional e diferencial. Com as teorizações de Joan Scott e Judith Butler, trazemos as proposições de Derrida para pensar os mecanismos de produção do feminino no social, através do conceito de gênero e da noção de identidade performativa. Entre os resultados construídos, está a invisibilidade que a história das mulheres apresenta no material de História, a naturalização de funções apresentadas como femininas nas apostilas de Ciência e a reprodução de concepções tradicionais sobre o lugar de meninas e meninos no corpus de Matemática. Mas concluímos também que os materiais didáticos pesquisados já possuem concepções menos sexistas na forma de significar o feminino, observando-se deslocamentos que sugerem certa hibridação. Porém, esses deslocamentos são inseridos nos textos de forma tímida, fazendo com que os postulados com maior poder de iteração sejam aqueles que ainda reproduzem velhas formas de ser mulher e de ser homem, podendo reforçar os estereótipos de gênero, caso não haja acesso a informações que se contraponham às encontradas.