A rigorous approach to facilitate and guarantee the correctness of the genetic testing management in human genome information systems

Abstract Background Recent medical and biological technology advances have stimulated the development of new testing systems that have been providing huge, varied amounts of molecular and clinical data. Growing data volumes pose significant challenges for information processing systems in research centers. Additionally, the routines of genomics laboratory are typically characterized by high parallelism in testing and constant procedure changes. Results This paper describes a formal approach to address this challenge through the implementation of a genetic testing management system applied to human genome laboratory. We introduced the Human Genome Research Center Information System (CEGH) in Brazil, a system that is able to support constant changes in human genome testing and can provide patients updated results based on the most recent and validated genetic knowledge. Our approach uses a common repository for process planning to ensure reusability, specification, instantiation, monitoring, and execution of processes, which are defined using a relational database and rigorous control flow specifications based on process algebra (ACP). The main difference between our approach and related works is that we were able to join two important aspects: 1) process scalability achieved through relational database implementation, and 2) correctness of processes using process algebra. Furthermore, the software allows end users to define genetic testing without requiring any knowledge about business process notation or process algebra. Conclusions This paper presents the CEGH information system that is a Laboratory Information Management System (LIMS) based on a formal framework to support genetic testing management for Mendelian disorder studies. We have proved the feasibility and showed usability benefits of a rigorous approach that is able to specify, validate, and perform genetic testing using easy end user interfaces.

PRoSPer: perceptual similarity queries in medical CBIR systems through user profiles

In this paper, we present a novel approach to perform similarity queries over medical images, maintaining the semantics of a given query posted by the user. Content-based image retrieval systems relying on relevance feedback techniques usually request the users to label relevant/irrelevant images. Thus, we present a highly effective strategy to survey user profiles, taking advantage of such labeling to implicitly gather the user perceptual similarity. The profiles maintain the settings desired for each user, allowing tuning of the similarity assessment, which encompasses the dynamic change of the distance function employed through an interactive process. Experiments on medical images show that the method is effective and can improve the decision making process during analysis.

Design of a Comb Generator for High Capacity Coherent-WDM Systems

This paper presents a theoretical model developed for estimating the power, the optical signal to noise ratio and the number of generated carriers in a comb generator, having as a reference the minimum optical signal do noise ratio at the receiver input, for a given fiber link. Based on the recirculating frequency shifting technique, the generator relies on the use of coherent and orthogonal multi-carriers (Coherent-WDM) that makes use of a single laser source (seed) for feeding high capacity (above 100 Gb/s) systems. The theoretical model has been validated by an experimental demonstration, where 23 comb lines with an optical signal to noise ratio ranging from 25 to 33 dB, in a spectral window of similar to 3.5 nm, are obtained.

Cost-effectiveness of introducing the 10-valent pneumococcal conjugate vaccine into the universal immunisation of infants in Brazil

Background Cost-effectiveness studies have been increasingly part of decision processes for incorporating new vaccines into the Brazilian National Immunisation Program. This study aimed to evaluate the cost-effectiveness of 10-valent pneumococcal conjugate vaccine (PCV10) in the universal childhood immunisation programme in Brazil. Methods A decision-tree analytical model based on the ProVac Initiative pneumococcus model was used, following 25 successive cohorts from birth until 5 years of age. Two strategies were compared: (1) status quo and (2) universal childhood immunisation programme with PCV10. Epidemiological and cost estimates for pneumococcal disease were based on National Health Information Systems and literature. A 'top-down' costing approach was employed. Costs are reported in 2004 Brazilian reals. Costs and benefits were discounted at 3%. Results 25 years after implementing the PCV10 immunisation programme, 10 226 deaths, 360 657 disability-adjusted life years (DALYs), 433 808 hospitalisations and 5 117 109 outpatient visits would be avoided. The cost of the immunisation programme would be R$10 674 478 765, and the expected savings on direct medical costs and family costs would be R$1 036 958 639 and R$209 919 404, respectively. This resulted in an incremental cost-effectiveness ratio of R$778 145/death avoided and R$22 066/DALY avoided from the society perspective. Conclusion The PCV10 universal infant immunisation programme is a cost-effective intervention (1-3 GDP per capita/DALY avoided). Owing to the uncertain burden of disease data, as well as unclear long-term vaccine effects, surveillance systems to monitor the long-term effects of this programme will be essential.

Investigation of the Impacts of Large-Scale Wind Power Penetration on the Angle and Voltage Stability of Power Systems

The complexity of power systems has increased in recent years due to the operation of existing transmission lines closer to their limits, using flexible AC transmission system (FACTS) devices, and also due to the increased penetration of new types of generators that have more intermittent characteristics and lower inertial response, such as wind generators. This changing nature of a power system has considerable effect on its dynamic behaviors resulting in power swings, dynamic interactions between different power system devices, and less synchronized coupling. This paper presents some analyses of this changing nature of power systems and their dynamic behaviors to identify critical issues that limit the large-scale integration of wind generators and FACTS devices. In addition, this paper addresses some general concerns toward high compensations in different grid topologies. The studies in this paper are conducted on the New England and New York power system model under both small and large disturbances. From the analyses, it can be concluded that high compensation can reduce the security limits under certain operating conditions, and the modes related to operating slip and shaft stiffness are critical as they may limit the large-scale integration of wind generation.