Identification of novel "pathologs" (human disease-related gene candidates) from the RIKEN full-length mouse cDNA data set

The majority of common diseases such as cancer, allergy, diabetes, or heart disease are characterized by complex genetic traits, in which genetic and environmental components contribute to disease susceptibility. Our knowledge of the genetic factors underlying most of such diseases is limited. A major goal in the post-genomic era is to identify and characterize disease susceptibility genes and to use this knowledge for disease treatment and prevention. More than 500 genes are conserved across the invertebrate and vertebrate genomes. Because of gene conservation, various organisms including yeast, fruitfly, zebrafish, rat, and mouse have been used as genetic models.

Determinants of hepato- and spleno-megaly in Hunan, China: cross-sectional survey data from areas endemic for schistosomiasis

In order to understand the determinants of schistosome-related hepato- and spleno-megaly better, 14 002 subjects aged 3-60 years (59% male; mean age =32 years) were randomly selected from 43 villages, all in Hunan province, China, where schistosomiasis caused by Schistosoma japonicum is endemic. The abdomen of each subject was examined along the mid-sternal (MSL) and mid-clavicular lines, for evidence of current hepato- and/or spleno-megaly, and a questionnaire was used to collect information on the medical history of each individual. Current infections with S. japonicum were detected by stool examination. Almost all (99.8%) of the subjects were ethnically Han by descent and most (77%) were engaged in farming. Although schistosomiasis appeared common (42% of the subjects claiming to have had the disease), only 45% of the subjects said they had received anti-schistosomiasis drugs. Overall, 1982 (14%) of the subjects had S. japonicum infections (as revealed by miracidium-hatching tests and/or Katon Katz smears) when examined and 22% had palpable hepatomegaly (i.e. enlargement of at least 3 cm along the MSL), although only 2.5% had any form of detectable splenomegaly (i.e. a Hackett's grade of at least 1). Multiple logistic regression revealed that male subjects, fishermen, farmers, subjects aged greater than or equal to 25 years, subjects with a history of schistosomiasis, and subjects who had had bloody stools in the previous 2 weeks were all at relatively high risk of hepato- and/or spleno-megaly. In areas moderately endemic for Schistosoma japonicum, occupational exposure and disease history appear to be good predictors of current disease status among older residents. These results reconfirm those reported earlier in the same region.

Genetic variability in cultivated common bean beyond the two major gene pools

It is generally accepted that two major gene pools exist in cultivated common bean (Phaseolus vulgaris L.), a Middle American and an Andean one. Some evidence, based on unique phaseolin morphotypes and AFLP analysis, suggests that at least one more gene pool exists in cultivated common bean. To investigate this hypothesis, 1072 accessions from a common bean core collection from the primary centres of origin, held at CIAT, were investigated. Various agronomic and morphological attributes (14 categorical and 11 quantitative) were measured. Multivariate analyses, consisting of homogeneity analysis and clustering for categorical data, clustering and ordination techniques for quantitative data and nonlinear principal component analysis for mixed data, were undertaken. The results of most analyses supported the existence of the two major gene pools. However, the analysis of categorical data of protein types showed an additional minor gene pool. The minor gene pool is designated North Andean and includes phaseolin types CH, S and T; lectin types 312, Pr, B and K; and mostly A5, A6 and A4 types alpha-amylase inhibitor. Analysis of the combined categorical data of protein types and some plant categorical data also suggested that some other germplasm with C type phaseolin are distinguished from the major gene pools.

Fitting genetic models to twin data with binary and ordered categorical responses: A comparison of structural equation modelling and Bayesian hierarchical models

We compare Bayesian methodology utilizing free-ware BUGS (Bayesian Inference Using Gibbs Sampling) with the traditional structural equation modelling approach based on another free-ware package, Mx. Dichotomous and ordinal (three category) twin data were simulated according to different additive genetic and common environment models for phenotypic variation. Practical issues are discussed in using Gibbs sampling as implemented by BUGS to fit subject-specific Bayesian generalized linear models, where the components of variation may be estimated directly. The simulation study (based on 2000 twin pairs) indicated that there is a consistent advantage in using the Bayesian method to detect a correct model under certain specifications of additive genetics and common environmental effects. For binary data, both methods had difficulty in detecting the correct model when the additive genetic effect was low (between 10 and 20%) or of moderate range (between 20 and 40%). Furthermore, neither method could adequately detect a correct model that included a modest common environmental effect (20%) even when the additive genetic effect was large (50%). Power was significantly improved with ordinal data for most scenarios, except for the case of low heritability under a true ACE model. We illustrate and compare both methods using data from 1239 twin pairs over the age of 50 years, who were registered with the Australian National Health and Medical Research Council Twin Registry (ATR) and presented symptoms associated with osteoarthritis occurring in joints of the hand.

COORDINSPECTOR: a tool for extracting coordination data from legacy code

More and more current software systems rely on non trivial coordination logic for combining autonomous services typically running on different platforms and often owned by different organizations. Often, however, coordination data is deeply entangled in the code and, therefore, difficult to isolate and analyse separately. COORDINSPECTOR is a software tool which combines slicing and program analysis techniques to isolate all coordination elements from the source code of an existing application. Such a reverse engineering process provides a clear view of the actually invoked services as well as of the orchestration patterns which bind them together. The tool analyses Common Intermediate Language (CIL) code, the native language of Microsoft .Net Framework. Therefore, the scope of application of COORDINSPECTOR is quite large: potentially any piece of code developed in any of the programming languages which compiles to the .Net Framework. The tool generates graphical representations of the coordination layer together and identifies the underlying business process orchestrations, rendering them as Orc specifications

Automatic assignment of absolute configuration from 1D NMR data

Opposite enantiomers exhibit different NMR properties in the presence of an external common chiral element, and a chiral molecule exhibits different NMR properties in the presence of external enantiomeric chiral elements. Automatic prediction of such differences, and comparison with experimental values, leads to the assignment of the absolute configuration. Here two cases are reported, one using a dataset of 80 chiral secondary alcohols esterified with (R)-MTPA and the corresponding 1H NMR chemical shifts and the other with 94 13C NMR chemical shifts of chiral secondary alcohols in two enantiomeric chiral solvents. For the first application, counterpropagation neural networks were trained to predict the sign of the difference between chemical shifts of opposite stereoisomers. The neural networks were trained to process the chirality code of the alcohol as the input, and to give the NMR property as the output. In the second application, similar neural networks were employed, but the property to predict was the difference of chemical shifts in the two enantiomeric solvents. For independent test sets of 20 objects, 100% correct predictions were obtained in both applications concerning the sign of the chemical shifts differences. Additionally, with the second dataset, the difference of chemical shifts in the two enantiomeric solvents was quantitatively predicted, yielding r2 0.936 for the test set between the predicted and experimental values.

A comparative study of alternative approaches for common factors identification

Preliminary version

Analysis of residence patterns of Sperm whales (Physeter macrocephalus) in Azores Islands using opportunistic data

27th Annual Conference of the European Cetacean Society. Setúbal, Portugal, 8-10 April 2013.

Modelo de data mining para detecção de tumores em exames de rastreio

Dissertação para obtenção do grau de Mestre em Engenharia Informática

Modelo de data mining para deteção de embolias pulmonares

Trabalho de Projeto para obtenção do grau de Mestre em Engenharia Informática e de Computadores

Indexação e pesquisa de informação com base em ontologias interligadas

Tecnologias da Web Semântica como RDF, OWL e SPARQL sofreram nos últimos anos um forte crescimento e aceitação. Projectos como a DBPedia e Open Street Map começam a evidenciar o verdadeiro potencial da Linked Open Data. No entanto os motores de pesquisa semânticos ainda estão atrasados neste crescendo de tecnologias semânticas. As soluções disponíveis baseiam-se mais em recursos de processamento de linguagem natural. Ferramentas poderosas da Web Semântica como ontologias, motores de inferência e linguagens de pesquisa semântica não são ainda comuns. Adicionalmente a esta realidade, existem certas dificuldades na implementação de um Motor de Pesquisa Semântico. Conforme demonstrado nesta dissertação, é necessária uma arquitectura federada de forma a aproveitar todo o potencial da Linked Open Data. No entanto um sistema federado nesse ambiente apresenta problemas de performance que devem ser resolvidos através de cooperação entre fontes de dados. O standard actual de linguagem de pesquisa na Web Semântica, o SPARQL, não oferece um mecanismo para cooperação entre fontes de dados. Esta dissertação propõe uma arquitectura federada que contém mecanismos que permitem cooperação entre fontes de dados. Aborda o problema da performance propondo um índice gerido de forma centralizada assim como mapeamentos entre os modelos de dados de cada fonte de dados. A arquitectura proposta é modular, permitindo um crescimento de repositórios e funcionalidades simples e de forma descentralizada, à semelhança da Linked Open Data e da própria World Wide Web. Esta arquitectura trabalha com pesquisas por termos em linguagem natural e também com inquéritos formais em linguagem SPARQL. No entanto os repositórios considerados contêm apenas dados em formato RDF. Esta dissertação baseia-se em múltiplas ontologias partilhadas e interligadas.

Three-dimensional modeling of tongue during speech using MRI data

The tongue is the most important and dynamic articulator for speech formation, because of its anatomic aspects (particularly, the large volume of this muscular organ comparatively to the surrounding organs of the vocal tract) and also due to the wide range of movements and flexibility that are involved. In speech communication research, a variety of techniques have been used for measuring the three-dimensional vocal tract shapes. More recently, magnetic resonance imaging (MRI) becomes common; mainly, because this technique allows the collection of a set of static and dynamic images that can represent the entire vocal tract along any orientation. Over the years, different anatomical organs of the vocal tract have been modelled; namely, 2D and 3D tongue models, using parametric or statistical modelling procedures. Our aims are to present and describe some 3D reconstructed models from MRI data, for one subject uttering sustained articulations of some typical Portuguese sounds. Thus, we present a 3D database of the tongue obtained by stack combinations with the subject articulating Portuguese vowels. This 3D knowledge of the speech organs could be very important; especially, for clinical purposes (for example, for the assessment of articulatory impairments followed by tongue surgery in speech rehabilitation), and also for a better understanding of acoustic theory in speech formation.

Extensible metadata repository for information systems

Thesis submitted to Faculdade de Ciências e Tecnologia of the Universidade Nova de Lisboa, in partial fulfillment of the requirements for the degree of Master in Computer Science

ERICA: prevalence of common mental disorders in Brazilian adolescents

ABSTRACT OBJECTIVE To describe the prevalence of common mental disorders in Brazilian adolescent students, according to geographical macro-regions, school type, sex, and age. METHODS We evaluated 74,589 adolescents who participated in the Cardiovascular Risk Study in Adolescents (ERICA), a cross-sectional, national, school-based study conducted in 2013-2014 in cities with more than 100,000 inhabitants. A self-administered questionnaire and an electronic data collector were employed. The presence of common mental disorders was assessed using the General Health Questionnaire (GHQ-12). We estimated prevalence and 95% confidence intervals of common mental disorders by sex, age, and school type, in Brazil and in the macro-regions, considering the sample design. RESULTS The prevalence of common mental disorders was of 30.0% (95%CI 29.2-30.8), being higher among girls (38.4%; 95%CI 37.1-39.7) when compared to boys (21.6%; 95%CI 20.5-22.8), and among adolescents who were from 15 to 17 years old (33.6%; 95%CI 32.2-35.0) compared to those aged between 12 and 14 years (26.7%; 95%CI 25.8-27.6). The prevalence of common mental disorders increased with age for both sexes, always higher in girls (ranging from 28.1% at 12 years to 44.1% at 17 years) than in boys (ranging from 18.5% at 12 years to 27.7% at 17 years). We did not observe any significant difference by macro-region or school type. Stratified analyses showed higher prevalence of common mental disorders among girls aged from 15 to 17 years of private schools in the North region (53.1; 95%CI 46.8-59.4). CONCLUSIONS The high prevalence of common mental disorders among adolescents and the fact that the symptoms are often vague mean these disorders are not so easily identified by school administrators or even by health services. The results of this study can help the proposition of more specific prevention and control measures, focused on highest risk subgroups.

CrimsonHex: a service oriented repository of specialised learning objects

The corner stone of the interoperability of eLearning systems is the standard definition of learning objects. Nevertheless, for some domains this standard is insufficient to fully describe all the assets, especially when they are used as input for other eLearning services. On the other hand, a standard definition of learning objects in not enough to ensure interoperability among eLearning systems; they must also use a standard API to exchange learning objects. This paper presents the design and implementation of a service oriented repository of learning objects called crimsonHex. This repository is fully compliant with the existing interoperability standards and supports new definitions of learning objects for specialized domains. We illustrate this feature with the definition of programming problems as learning objects and its validation by the repository. This repository is also prepared to store usage data on learning objects to tailor the presentation order and adapt it to learner profiles.