Loss of Methylation at H19 DMD Is Associated with Biallelic Expression and Reduced Development in Cattle Derived by Somatic Cell Nuclear Transfer

Although cloning of mammals has been achieved successfully, the percentage of live offspring is very low because of reduced fetal size and fewer implantation sites. Recent studies have attributed such pathological conditions to abnormal reprogramming of the donor cell used for cloning. The inability of the oocyte to fully restore the differentiated status of a somatic cell to its pluripotent and undifferentiated state is normally evidenced by aberrant DNA methylation patterns established throughout the genome during development to blastocyst. These aberrant methylation patterns are associated with abnormal expression of imprinted genes, which among other genes are essential for normal embryo development and gestation. We hypothesized that embryo loss and low implantation rates in cattle derived by somatic cell nuclear transfer (SCNT) are caused by abnormal epigenetic reprogramming of imprinted genes. To verify our hypothesis, we analyzed the parental expression and the differentially methylated domain (DMD) methylation status of the H19 gene. Using a parental-specific analysis, we confirmed for the first time that H19 biallelic expression is tightly associated with a severe demethylation of the paternal H19 DMD in SCNT embryos, suggesting that these epigenetic anomalies to the H19 locus could be directly responsible for the reduced size and low implantation rates of cloned embryos in cattle.

Grounded theory as foundations for methods in applied ontology

Research into domain specific ontologies is difficult to treat empirically. This is because it is difficult to ground domain ontology while simultaneously being true to its guiding philosophy or theory. Further, ontology generation is often introspective and reflective or relies on experts for ontology generation. Even those relying on expert generation lack rigour and tend to be more ad-hoc. We ask how Grounded Theory can be used to generate domain specific ontologies where appropriate high level theory and suitable textual data sources are available. We are undertaking generation of a domain ontology for the discipline of information systems by applying the Grounded Theory method. Specifically we are using Roman Ingarden’s theory of scientific works to seed a coding family and adapting the method to ask relevant questions when analysing rich textual data. We have found that a guiding ontological theory, such as Ingarden’s, can be used to seed a coding family giving rise to a viable method for generating ontologies for research. This is significant because Grounded Theory may be one of the key methods for generating ontologies where substantial uniform quality text is available to the ontologist. We also present our partial analysis of information systems research.

Adaptive communal detection in search of adversarial identity crime

This paper is on adaptive real-time searching of credit application data streams for identity crime with many search parameters. Specifically, we concentrated on handling our domain-specific adversarial activity problem with the adaptive Communal Analysis Suspicion Scoring (CASS) algorithm. CASS's main novel theoretical contribution is in the formulation of State-of- Alert (SoA) which sets the condition of reduced, same, or heightened watchfulness; and Parameter-of-Change (PoC) which improves detection ability with pre-defined parameter values for each SoA. With pre-configured SoA policy and PoC strategy, CASS determines when, what, and how much to adapt its search parameters to ongoing adversarial activity. The above approach is validated with three sets of experiments, where each experiment is conducted on several million real credit applications and measured with three appropriate performance metrics. Significant improvements are achieved over previous work, with the discovery of some practical insights of adaptivity into our domain.

Production system model of children's development of number concepts

The purpose of the present research study was to produce a global, cumulative model of number concept development for children between the ages of two and eight years old. The theoretical and methodological orientation of this study was greatly influenced by Richard Young's production system analysis of seriation by young children (Young, 1971, 1976) and by Newell's (1973) seminal paper, ‘You can't play twenty questions with nature and win’. The methodology used in this investigation thus was as follows. A series of complex number tasks encompassing many aspects of the concept of number were developed. Five children aged between three and seven years then were videotaped while performing some of these complex number tasks. From a detailed protocol analysis of the video-recordings, computer simulation models written in the production system language PSS3 (Ohlsson, 1979) were produced. Specific production system models were produced for each of following aspects of the children's number knowledge: (i) sharing of discrete quantities; (ii) comparison of shares; and (iii) conservation/addition/subtraction of number. These domain-specific models were based on the converging experimental evidence obtained from each of the children’s responses to variants of the complex number tasks. Each child thus received a different set of problems which were chosen systematically in order to clarify particular features of the child's abilities. After a production system model for each child had been produced within a domain, these models were compared and contrasted. From this analysis, developmental trends within the domain were identified and discussed. The research and educational implications of these developmental trends then were discussed. In the concluding parts of this study, the children's domain-specific production system models were cumulated into global, comprehensive models which accurately represented their behaviour in a variety of number tasks. These comprehensive models were compared and contrasted and general developmental trends in young children's number knowledge were identified and discussed.

Agent-based hybrid framework for decision making on complex problems

Electronic commerce and the Internet have created demand for automated systems that can make complex decisions utilizing information from multiple sources. Because the information is uncertain, dynamic, distributed, and heterogeneous in nature, these systems require a great diversity of intelligent techniques including expert systems, fuzzy logic, neural networks, and genetic algorithms. However, in complex decision making, many different components or sub-tasks are involved, each of which requires different types of processing. Thus multiple such techniques are required resulting in systems called hybrid intelligent systems. That is, hybrid solutions are crucial for complex problem solving and decision making. There is a growing demand for these systems in many areas including financial investment planning, engineering design, medical diagnosis, and cognitive simulation. However, the design and development of these systems is difficult because they have a large number of parts or components that have many interactions. From a multi-agent perspective, agents in multi-agent systems (MAS) are autonomous and can engage in flexible, high-level interactions. MASs are good at complex, dynamic interactions. Thus a multi-agent perspective is suitable for modeling, design, and construction of hybrid intelligent systems. The aim of this thesis is to develop an agent-based framework for constructing hybrid intelligent systems which are mainly used for complex problem solving and decision making. Existing software development techniques (typically, object-oriented) are inadequate for modeling agent-based hybrid intelligent systems. There is a fundamental mismatch between the concepts used by object-oriented developers and the agent-oriented view. Although there are some agent-oriented methodologies such as the Gaia methodology, there is still no specifically tailored methodology available for analyzing and designing agent-based hybrid intelligent systems. To this end, a methodology is proposed, which is specifically tailored to the analysis and design of agent-based hybrid intelligent systems. The methodology consists of six models - role model, interaction model, agent model, skill model, knowledge model, and organizational model. This methodology differs from other agent-oriented methodologies in its skill and knowledge models. As good decisions and problem solutions are mainly based on adequate information, rich knowledge, and appropriate skills to use knowledge and information, these two models are of paramount importance in modeling complex problem solving and decision making. Follow the methodology, an agent-based framework for hybrid intelligent system construction used in complex problem solving and decision making was developed. The framework has several crucial characteristics that differentiate this research from others. Four important issues relating to the framework are also investigated. These cover the building of an ontology for financial investment, matchmaking in middle agents, reasoning in problem solving and decision making, and decision aggregation in MASs. The thesis demonstrates how to build a domain-specific ontology and how to access it in a MAS by building a financial ontology. It is argued that the practical performance of service provider agents has a significant impact on the matchmaking outcomes of middle agents. It is proposed to consider service provider agents' track records in matchmaking. A way to provide initial values for the track records of service provider agents is also suggested. The concept of ‘reasoning with multimedia information’ is introduced, and reasoning with still image information using symbolic projection theory is proposed. How to choose suitable aggregation operations is demonstrated through financial investment application and three approaches are proposed - the stationary agent approach, the token-passing approach, and the mobile agent approach to implementing decision aggregation in MASs. Based on the framework, a prototype was built and applied to financial investment planning. This prototype consists of one serving agent, one interface agent, one decision aggregation agent, one planning agent, four decision making agents, and five service provider agents. Experiments were conducted on the prototype. The experimental results show the framework is flexible, robust, and fully workable. All agents derived from the methodology exhibit their behaviors correctly as specified.

A suite of visual languages for model-driven development of statistical surveys and services

Objective: To provide statistician end users with a visual language environment for complex statistical survey design and implementation. Methods: We have developed, in conjunction with professional statisticians, the Statistical Design Language (SDL), an integrated suite of visual languages aimed at supporting the process of designing statistical surveys, and its support environment, SDLTool. SDL comprises five diagrammatic notations: survey diagrams, data diagrams, technique diagrams, task diagrams and process diagrams. SDLTool provides an integrated environment supporting design, coordination, execution, sharing and publication of complex statistical survey techniques as web services. SDLTool allows association of model components with survey artefacts, including data sets, metadata, and statistical package analysis scripts, with the ability to execute elements of the survey design model to implement survey analysis. Results: We describe three evaluations of SDL and SDLTool: use of the notation by expert statistician to design and execute surveys; useability evaluation of the environment; and assessment of several generated statistical analysis web services. Conclusion: We have shown the effectiveness of SDLTool for supporting statistical survey design and implementation. Practice implications: We have developed a more effective approach to supporting statisticians in their survey design work.

Implicações da formação continuada na prática pedagógica do(a) professor(a) no âmbito da cultura corporal do movimento

Pós-graduação em Ciências da Motricidade - IBRC

Correlates of sports practice, occupational and leisure-time physical activity in Brazilian adolescents

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Oral health-related quality of life of paediatric patients with AIDS

Abstract Background Children with Acquired Immune Deficiency Syndrome (AIDS) exhibit impaired dental status, which can affect their quality of life. This study assessed the oral health-related quality of life of these patients and associated factors. Methods The "Child Perceptions Questionnaire 11-14", rating overall and domain-specific (oral symptoms, functional limitations, emotional well being, and social well being) oral health-related quality of life (OHR-QoL) was completed by 88 children with AIDS assisted in the Child Institute, Sao Paulo, Brazil. Parents or guardians provided behavioural and socio-demographic information. The clinical status was provided by hospital records. OHR-QoL covariates were assessed by Poisson regression analysis. Results The most affected OHR-QoL subscale concerned oral symptoms, whose rate was 23.9%. The direct answer for oral health and well being made up a rate of 47.7%. Brushing the teeth less than two times a day and viral load exceeding 10,000 HIV-RNA copies per millilitre of plasma were directly associated (p < 0.05) with a poorer oral health-related quality of life. Conclusions Children with more severe AIDS manifestations complained of poorer status of oral symptoms, functional limitations, emotional and social well being related to their oral health. Recognizing the factors that are associated with poorer OHR-QoL in children with AIDS may contribute to the planning of dental services for this population.

Kinetic and affinity analysis of hybridization reactions between PNA probes and DNA targets using surface plasmon field-enhanced fluorescence spectroscopy (SPFS)

Sequenz spezifische biomolekulare Analyseverfahren erweisen sich gerade im Hinblick auf das Humane Genom Projekt als äußerst nützlich in der Detektion von einzelnen Nukleotid Polymorphismen (SNPs) und zur Identifizierung von Genen. Auf Grund der hohen Anzahl von Basenpaaren, die zu analysieren sind, werden sensitive und effiziente Rastermethoden benötigt, welche dazu fähig sind, DNA-Proben in einer geeigneten Art und Weise zu bearbeiten. Die meisten Detektionsarten berücksichtigen die Interaktion einer verankerten Probe und des korrespondierenden Targets mit den Oberflächen. Die Analyse des kinetischen Verhaltens der Oligonukleotide auf der Sensoroberfläche ist infolgedessen von höchster Wichtigkeit für die Verbesserung bereits bekannter Detektions - Schemata. In letzter Zeit wurde die Oberflächen Plasmonen feld-verstärkte Fluoreszenz Spektroskopie (SPFS) entwickelt. Sie stellt eine kinetische Analyse - und Detektions - Methode dar, die mit doppelter Aufzeichnung, d.h. der Änderung der Reflektivität und des Fluoreszenzsignals, für das Interphasen Phänomen operiert. Durch die Verwendung von SPFS können Kinetikmessungen für die Hybridisierung zwischen Peptid Nukleinsäure (PNA), welche eine synthetisierte Nukleinsäure DNA imitiert und eine stabilere Doppelhelix formt, und DNA auf der Sensoroberfläche ausgeführt werden. Mittels einzel-, umfassend-, und titrations- Experimenten sowohl mit einer komplementär zusammenpassenden Sequenz als auch einer mismatch Sequenz können basierend auf dem Langmuir Modell die Geschwindigkeitskonstanten für die Bindungsreaktion des oligomer DNA Targets bzw. des PCR Targets zur PNA ermittelt werden. Darüber hinaus wurden die Einflüsse der Ionenstärke und der Temperatur für die PNA/DNA Hybridisierung in einer kinetischen Analyse aufgezeigt.

Una scossa all'economia: le conseguenze del sisma dell'Aquilano. Traduzione dall'inglese in italiano di un articolo di ricerca economica ed esperienza di collaborazione con gli autori.

The aim of this dissertation is to provide a translation from English into Italian of a specialised scientific article published in the Cambridge Working Papers in Economics series. In this text, the authors estimate the economic consequences of the earthquake that hit the Abruzzo region in 2009. An extract of this translation will be published as part of conference proceedings. The main reason behind this choice is a personal interest in specialised translation in the economic domain. Moreover, the subject of the article is of particular interest to the Italian readership. The aim of this study is to show how a non-specialised translator can tackle with such a highly specialised translation with the use of appropriate terminology resources and the collaboration of field experts. The translation could be of help to other Italian linguists looking for translated material in this particular domain where English seems to be the dominant language. In order to ensure consistent terminology and adequate style, the document has been translated with the use of different resources, such as dictionaries, glossaries and specialised corpora. I also contacted field experts and the authors of text. The collaboration with the authors proved to be an invaluable resource yet one to be carefully managed. This work is divided into 5 chapters. The first deals with domain-specific sublanguages. The second gives an overview of corpus linguistics and describes the corpora designed for the translation. The third provides an analysis of the article, focusing on syntactical, lexical and structural features while the fourth presents the translation, side-by-side with the source text. The fifth comments on the main difficulties encountered in the translation and the strategies used, as well as the relationship with the authors and their review of the published text. Appendix I contains the econometric glossary English – Italian.

Set up of a procedure for correlation analysis between current discharge and dose delivery in a pulsed power plasma device for medical application

This thesis work aims to find a procedure for isolating specific features of the current signal from a plasma focus for medical applications. The structure of the current signal inside a plasma focus is exclusive of this class of machines and a specific analysis procedure has to be developed. The hope is to find one or more features that shows a correlation with the dose erogated. The study of the correlation between the current discharge signal and the dose delivered by a plasma focus could be of some importance not only for the practical application of dose prediction but also for expanding the knowledge anbout the plasma focus physics. Vatious classes of time-frequency analysis tecniques are implemented in order to solve the problem.

Relationship of porcine IGF2 imprinting status to DNA methylation at the H19 DMD and the IGF2 DMRs 1 and 2

BACKGROUND: Porcine IGF2 and the H19 genes are imprinted. The IGF2 is paternally expressed, while the H19 gene is maternally expressed. Extensive studies in mice established a boundary model indicating that the H19 differentially methylated domain (DMD) controls, upon binding with the CTCF protein, reciprocal imprinting of the IGF2 and the H19 genes. IGF2 transcription is tissue and development specific involving the use of 4 promoters. In the liver of adult Large White boars IGF2 is expressed from both parental alleles, whereas in skeletal muscle and kidney tissues we observed variable relaxation of IGF2 imprinting. We hypothesized that IGF2 expression from both paternal alleles and relaxation of IGF2 imprinting is reflected in differences in DNA methylation patterns at the H19 DMD and IGF2 differentially methylated regions 1 and 2 (DMR1 and DMR2). RESULTS: Bisulfite sequencing analysis did not show any differences in DNA methylation at the three porcine CTCF binding sites in the H19 DMD between liver, muscle and kidney tissues of adult pigs. A DNA methylation analysis using methyl-sensitive restriction endonuclease SacII and 'hot-stop' PCR gave consistent results with those from the bisulfite sequencing analysis. We found that porcine H19 DMD is distinctly differentially methylated, at least for the region formally confirmed by two SNPs, in liver, skeletal muscle and kidney of foetal, newborn and adult pigs, independent of the combined imprinting status of all IGF2 expressed transcripts. DNA methylation at CpG sites in DMR1 of foetal liver was significantly lower than in the adult liver due to the presence of hypomethylated molecules. An allele specific analysis was performed for IGF2 DMR2 using a SNP in the IGF2 3'-UTR. The maternal IGF2 DMR2 of foetal and newborn liver revealed a higher DNA methylation content compared to the respective paternal allele. CONCLUSIONS: Our results indicate that the IGF2 imprinting status is transcript-specific. Biallelic IGF2 expression in adult porcine liver and relaxation of IGF2 imprinting in porcine muscle were a common feature. These results were consistent with the IGF2 promoter P1 usage in adult liver and IGF2 promoter P2, P3 and P4 usages in muscle. The results showed further that bialellic IGF2 expression in liver and relaxation of imprinting in muscle and kidney were not associated with DNA methylation variation at and around at least one CTCF binding site in H19 DMD. The imprinting status in adult liver, muscle and kidney tissues were also not reflected in the methylation patterns of IGF2 DMRs 1 and 2.

Systemic analysis of microarray data sets towards identifying genes regulating root development

Nitrogen and water are essential for plant growth and development. In this study, we designed experiments to produce gene expression data of poplar roots under nitrogen starvation and water deprivation conditions. We found low concentration of nitrogen led first to increased root elongation followed by lateral root proliferation and eventually increased root biomass. To identify genes regulating root growth and development under nitrogen starvation and water deprivation, we designed a series of data analysis procedures, through which, we have successfully identified biologically important genes. Differentially Expressed Genes (DEGs) analysis identified the genes that are differentially expressed under nitrogen starvation or drought. Protein domain enrichment analysis identified enriched themes (in same domains) that are highly interactive during the treatment. Gene Ontology (GO) enrichment analysis allowed us to identify biological process changed during nitrogen starvation. Based on the above analyses, we examined the local Gene Regulatory Network (GRN) and identified a number of transcription factors. After testing, one of them is a high hierarchically ranked transcription factor that affects root growth under nitrogen starvation. It is very tedious and time-consuming to analyze gene expression data. To avoid doing analysis manually, we attempt to automate a computational pipeline that now can be used for identification of DEGs and protein domain analysis in a single run. It is implemented in scripts of Perl and R.