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Environmental exposures transported across air, land and water can affect our health making us more susceptible to developing a disease. Therefore, researchers need to face the complex task of integrating environmental exposures and linking them to health events with the relevant spatiotemporal and health context for individuals or populations. We present a usability evaluation approach and study of a semantic framework (i.e. Knowledge Graph, Methodology and User Interface) to enable Health Data Researchers (HDR) to link particular health events with environmental data for rare disease research. The usability study includes 17 HDRs with expertise in health data related to Anti-Neutrophil Cytoplasmic Antibody (ANCA)-associated vasculitis (AAV) in Ireland and Kawasaki Disease in Japan, and with no previous practical experience in using Semantic Web (SW) technologies. The evaluation results are promising in that they indicate that the framework is useful in allowing researchers themselves to link health and environmental data whilst hiding the complexities of SW technologies. As a result of this work, we also discuss the limitations of the approach together with the applicability to other domains. Beyond the direct impact on environmental health studies, the description of the evaluation approach can guide researchers in making SW technologies more accessible to domain experts through usability studies.
Annotations enrich text corpora and provide necessary labels for natural language processing studies. To reason and infer underlying implicit knowledge captured by labels, an ontology is needed to provide a semantically annotated corpus with structured domain knowledge. Utilizing a corpus of adverse event documents annotated for sepsis-related signs and symptoms as a use case, this paper details how a terminology and corresponding ontology were developed. The Annotated Adverse Event NOte TErminology (AAENOTE) represents annotated documents and assists annotators in annotating text. In contrast, the complementary Catheter Infection Indications Ontology (CIIO) is intended for clinician use and captures domain knowledge needed to reason and infer implicit information from data. The approach taken makes ontology development understandable and accessible to domain experts without formal ontology training.
Social networks have become information dissemination channels, where announcements are posted frequently; they also serve as frameworks for debates in various areas (e.g., scientific, political, and social). In particular, in the health area, social networks represent a channel to communicate and disseminate novel treatments’ success; they also allow ordinary people to express their concerns about a disease or disorder. The Artificial Intelligence (AI) community has developed analytical methods to uncover and predict patterns from posts that enable it to explain news about a particular topic, e.g., mental disorders expressed as eating disorders or depression. Albeit potentially rich while expressing an idea or concern, posts are presented as short texts, preventing, thus, AI models from accurately encoding these posts’ contextual knowledge. We propose a hybrid approach where knowledge encoded in community-maintained knowledge graphs (e.g., Wikidata) is combined with deep learning to categorize social media posts using existing classification models. The proposed approach resorts to state-of-the-art named entity recognizers and linkers (e.g., Falcon 2.0) to extract entities in short posts and link them to concepts in knowledge graphs. Then, knowledge graph embeddings (KGEs) are utilized to compute latent representations of the extracted entities, which result in vector representations of the posts that encode these entities’ contextual knowledge extracted from the knowledge graphs. These KGEs are combined with contextualized word embeddings (e.g., BERT) to generate a context-based representation of the posts that empower prediction models. We apply our proposed approach in the health domain to detect whether a publication is related to an eating disorder (e.g., anorexia or bulimia) and uncover concepts within the discourse that could help healthcare providers diagnose this type of mental disorder. We evaluate our approach on a dataset of 2,000 tweets about eating disorders. Our experimental results suggest that combining contextual knowledge encoded in word embeddings with the one built from knowledge graphs increases the reliability of the predictive models. The ambition is that the proposed method can support health domain experts in discovering patterns that may forecast a mental disorder, enhancing early detection and more precise diagnosis towards personalized medicine.
Integrating Internet of Things (IoT) sensor data from heterogeneous sources with domain knowledge and context information in real-time is a challenging task in IoT healthcare data management applications that can be solved with semantics. Existing IoT platforms often have issues with preserving the privacy of patient data. Moreover, configuring and managing context-aware stream processing queries in semantic IoT platforms requires much manual, labor-intensive effort. Generic queries can deal with context changes but often lead to performance issues caused by the need for expressive real-time semantic reasoning. In addition, query window parameters are part of the manual configuration and cannot be made context-dependent. To tackle these problems, this paper presents DIVIDE, a component for a semantic IoT platform that adaptively derives and manages the queries of the platform’s stream processing components in a context-aware and scalable manner, and that enables privacy by design. By performing semantic reasoning to derive the queries when context changes are observed, their real-time evaluation does require any reasoning. The results of an evaluation on a homecare monitoring use case demonstrate how activity detection queries derived with DIVIDE can be evaluated in on average less than 3.7 seconds and can therefore successfully run on low-end IoT devices.
Tailoring personalized treatments demands the analysis of a patient’s characteristics, which may be scattered over a wide variety of sources. These features include family history, life habits, comorbidities, and potential treatment side effects. Moreover, the analysis of the services visited the most by a patient before a new diagnosis, as well as the type of requested tests, may uncover patterns that contribute to earlier disease detection and treatment effectiveness. Built on knowledge-driven ecosystems, we devise DE4LungCancer, a health data ecosystem of data sources for lung cancer. In this data ecosystem, knowledge extracted from heterogeneous sources, e.g., clinical records, scientific publications, and pharmacological data, is integrated into knowledge graphs. Ontologies describe the meaning of the combined data, and mapping rules enable the declarative definition of the transformation and integration processes. DE4LungCancer is assessed regarding the methods followed for data quality assessment and curation. Lastly, the role of controlled vocabularies and ontologies in health data management is discussed, as well as their impact on transparent knowledge extraction and analytics. This paper presents the lessons learned in the DE4LungCancer development. It demonstrates the transparency level supported by the proposed knowledge-driven ecosystem, in the context of the lung cancer pilots of the EU H2020-funded project BigMedilytic, the ERA PerMed funded project P4-LUCAT, and the EU H2020 projects CLARIFY and iASiS.
Developing personal data sharing tools and standards in conformity with data protection regulations is essential to empower citizens to control and share their health data with authorized parties for any purpose they approve. This can be, among others, for primary use in healthcare, or secondary use for research to improve human health and well-being. Ensuring that citizens are able to make fine-grained decisions about how their personal health data can be used and shared will significantly encourage citizens to participate in more health-related research. In this paper, we propose a ciTIzen-centric DatA pLatform (TIDAL) to give individuals ownership of their own data, and connect them with researchers to donate the use of their personal data for research while being in control of the entire data life cycle, including data access, storage and analysis. We recognize that most existing technologies focus on one particular aspect such as personal data storage, or suffer from executing data analysis over a large number of participants, or face challenges of low data quality and insufficient data interoperability. To address these challenges, the TIDAL platform integrates a set of components for requesting subsets of RDF (Resource Description Framework) data stored in personal data vaults based on SOcial LInked Data (Solid) technology and analyzing them in a privacy-preserving manner. We demonstrate the feasibility and efficiency of the TIDAL platform by conducting a set of simulation experiments using three different pod providers (