Information extraction from medication leaflets

Tese de mestrado integrado. Engenharia Informática e Computação. Faculdade de Engenharia. Universidade do Porto. 201

Using WormBase: A Genome Biology Resource for Caenorhabditis elegans and Related Nematodes

WormBase (www.wormbase.org) provides the nematode research community with a centralized database for information pertaining to nematode genes and genomes. As more nematode genome sequences are becoming available and as richer data sets are published, WormBase strives to maintain updated information, displays, and services to facilitate efficient access to and understanding of the knowledge generated by the published nematode genetics literature. This chapter aims to provide an explanation of how to use basic features of WormBase, new features, and some commonly used tools and data queries. Explanations of the curated data and step-by-step instructions of how to access the data via the WormBase website and available data mining tools are provided

Language modelling for clinical natural language understanding and generation

One of the long-standing objectives of Artificial Intelligence (AI) is to design and develop algorithms for social good including tackling public health challenges. In the era of digitisation, with an unprecedented amount of healthcare data being captured in digital form, the analysis of the healthcare data at scale can lead to better research of diseases, better monitoring patient conditions and more importantly improving patient outcomes. However, many AI-based analytic algorithms rely solely on structured healthcare data such as bedside measurements and test results which only account for 20% of all healthcare data, whereas the remaining 80% of healthcare data is unstructured including textual data such as clinical notes and discharge summaries which is still underexplored. Conventional Natural Language Processing (NLP) algorithms that are designed for clinical applications rely on the shallow matching, templates and non-contextualised word embeddings which lead to limited understanding of contextual semantics. Though recent advances in NLP algorithms have demonstrated promising performance on a variety of NLP tasks in the general domain with contextualised language models, most of these generic NLP algorithms struggle at specific clinical NLP tasks which require biomedical knowledge and reasoning. Besides, there is limited research to study generative NLP algorithms to generate clinical reports and summaries automatically by considering salient clinical information. This thesis aims to design and develop novel NLP algorithms especially clinical-driven contextualised language models to understand textual healthcare data and generate clinical narratives which can potentially support clinicians, medical scientists and patients. The first contribution of this thesis focuses on capturing phenotypic information of patients from clinical notes which is important to profile patient situation and improve patient outcomes. The thesis proposes a novel self-supervised language model, named Phenotypic Intelligence Extraction (PIE), to annotate phenotypes from clinical notes with the detection of contextual synonyms and the enhancement to reason with numerical values. The second contribution is to demonstrate the utility and benefits of using phenotypic features of patients in clinical use cases by predicting patient outcomes in Intensive Care Units (ICU) and identifying patients at risk of specific diseases with better accuracy and model interpretability. The third contribution is to propose generative models to generate clinical narratives to automate and accelerate the process of report writing and summarisation by clinicians. This thesis first proposes a novel summarisation language model named PEGASUS which surpasses or is on par with the state-of-the-art performance on 12 downstream datasets including biomedical literature from PubMed. PEGASUS is further extended to generate medical scientific documents from input tabular data.Open Acces

Precision Medicine Informatics: Principles, Prospects, and Challenges

Precision Medicine (PM) is an emerging approach that appears with the impression of changing the existing paradigm of medical practice. Recent advances in technological innovations and genetics, and the growing availability of health data have set a new pace of the research and imposes a set of new requirements on different stakeholders. To date, some studies are available that discuss about different aspects of PM. Nevertheless, a holistic representation of those aspects deemed to confer the technological perspective, in relation to applications and challenges, is mostly ignored. In this context, this paper surveys advances in PM from informatics viewpoint and reviews the enabling tools and techniques in a categorized manner. In addition, the study discusses how other technological paradigms including big data, artificial intelligence, and internet of things can be exploited to advance the potentials of PM. Furthermore, the paper provides some guidelines for future research for seamless implementation and wide-scale deployment of PM based on identified open issues and associated challenges. To this end, the paper proposes an integrated holistic framework for PM motivating informatics researchers to design their relevant research works in an appropriate context.Comment: 22 pages, 8 figures, 5 tables, journal pape

Front-Line Physicians' Satisfaction with Information Systems in Hospitals

Day-to-day operations management in hospital units is difficult due to continuously varying situations, several actors involved and a vast number of information systems in use. The aim of this study was to describe front-line physicians' satisfaction with existing information systems needed to support the day-to-day operations management in hospitals. A cross-sectional survey was used and data chosen with stratified random sampling were collected in nine hospitals. Data were analyzed with descriptive and inferential statistical methods. The response rate was 65 % (n = 111). The physicians reported that information systems support their decision making to some extent, but they do not improve access to information nor are they tailored for physicians. The respondents also reported that they need to use several information systems to support decision making and that they would prefer one information system to access important information. Improved information access would better support physicians' decision making and has the potential to improve the quality of decisions and speed up the decision making process.Peer reviewe

NLP for Maternal Healthcare: Perspectives and Guiding Principles in the Age of LLMs

Ethical frameworks for the use of natural language processing (NLP) are urgently needed to shape how large language models (LLMs) and similar tools are used for healthcare applications. Healthcare faces existing challenges including the balance of power in clinician-patient relationships, systemic health disparities, historical injustices, and economic constraints. Drawing directly from the voices of those most affected, and focusing on a case study of a specific healthcare setting, we propose a set of guiding principles for the use of NLP in maternal healthcare. We led an interactive session centered on an LLM-based chatbot demonstration during a full-day workshop with 39 participants, and additionally surveyed 30 healthcare workers and 30 birthing people about their values, needs, and perceptions of NLP tools in the context of maternal health. We conducted quantitative and qualitative analyses of the survey results and interactive discussions to consolidate our findings into a set of guiding principles. We propose nine principles for ethical use of NLP for maternal healthcare, grouped into three themes: (i) recognizing contextual significance (ii) holistic measurements, and (iii) who/what is valued. For each principle, we describe its underlying rationale and provide practical advice. This set of principles can provide a methodological pattern for other researchers and serve as a resource to practitioners working on maternal health and other healthcare fields to emphasize the importance of technical nuance, historical context, and inclusive design when developing NLP technologies for clinical use

An ontological framework for the formal representation and management of human stress knowledge

There is a great deal of information on the topic of human stress which is embedded within numerous papers across various databases. However, this information is stored, retrieved, and used often discretely and dispersedly. As a result, discovery and identification of the links and interrelatedness between different aspects of knowledge on stress is difficult. This restricts the effective search and retrieval of desired information. There is a need to organize this knowledge under a unifying framework, linking and analysing it in mutual combinations so that we can obtain an inclusive view of the related phenomena and new knowledge can emerge. Furthermore, there is a need to establish evidence-based and evolving relationships between the ontology concepts.Previous efforts to classify and organize stress-related phenomena have not been sufficiently inclusive and none of them has considered the use of ontology as an effective facilitating tool for the abovementioned issues.There have also been some research works on the evolution and refinement of ontology concepts and relationships. However, these fail to provide any proposals for an automatic and systematic methodology with the capacity to establish evidence-based/evolving ontology relationships.In response to these needs, we have developed the Human Stress Ontology (HSO), a formal framework which specifies, organizes, and represents the domain knowledge of human stress. This machine-readable knowledge model is likely to help researchers and clinicians find theoretical relationships between different concepts, resulting in a better understanding of the human stress domain and its related areas. The HSO is formalized using OWL language and Protégé tool.With respect to the evolution and evidentiality of ontology relationships in the HSO and other scientific ontologies, we have proposed the Evidence-Based Evolving Ontology (EBEO), a methodology for the refinement and evolution of ontology relationships based on the evidence gleaned from scientific literature. The EBEO is based on the implementation of a Fuzzy Inference System (FIS).Our evaluation results showed that almost all stress-related concepts of the sample articles can be placed under one or more category of the HSO. Nevertheless, there were a number of limitations in this work which need to be addressed in future undertakings.The developed ontology has the potential to be used for different data integration and interoperation purposes in the domain of human stress. It can also be regarded as a foundation for the future development of semantic search engines in the stress domain