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.

Introduction to the Software-defined Radio Approach

Telecommunications have been in constant evolution during past decades. Among the technological innovations, the use of digital technologies is very relevant. Digital communication systems have proven their efficiency and brought a new element in the chain of signal transmitting and receiving, the digital processor. This device offers to new radio equipments the flexibility of a programmable system. Nowadays, the behavior of a communication system can be modified by simply changing its software. This gave rising to a new radio model called Software Defined Radio (or Software-Defined Radio - SDR). In this new model, one moves to the software the task to set radio behavior, leaving to hardware only the implementation of RF front-end. Thus, the radio is no longer static, defined by their circuits and becomes a dynamic element, which may change their operating characteristics, such as bandwidth, modulation, coding rate, even modified during runtime according to software configuration. This article aims to present the use of GNU Radio software, an open-source solution for SDR specific applications, as a tool for development configurable digital radio.

Results obtained with a low cost software-based audiometer for hearing screening

Introduction: The implementation of hearing screening programs can be facilitated by reducing operating costs, including the cost of equipment. The Telessaúde (TS) audiometer is a low-cost, software-based, and easy-to-use piece of equipment for conducting audiometric screening. Aim: To evaluate the TS audiometer for conducting audiometric screening. Methods: A prospective randomized study was performed. Sixty subjects, divided into those who did not have (group A, n = 30) and those who had otologic complaints (group B, n = 30), underwent audiometric screening with conventional and TS audiometers in a randomized order. Pure tones at 25 dB HL were presented at frequencies of 500, 1000, 2000, and 4000 Hz. A "fail" result was considered when the individual failed to respond to at least one of the stimuli. Pure-tone audiometry was also performed on all participants. The concordance of the results of screening with both audiometers was evaluated. The sensitivity, specificity, and positive and negative predictive values of screening with the TS audiometer were calculated. Results: For group A, 100% of the ears tested passed the screening. For group B, "pass" results were obtained in 34.2% (TS) and 38.3% (conventional) of the ears tested. The agreement between procedures (TS vs. conventional) ranged from 93% to 98%. For group B, screening with the TS audiometer showed 95.5% sensitivity, 90.4% sensitivity, and positive and negative predictive values equal to 94.9% and 91.5%, respectively. Conclusions: The results of the TS audiometer were similar to those obtained with the conventional audiometer, indicating that the TS audiometer can be used for audiometric screening.