From Affective Science to Psychiatric Disorder: Ontology as Semantic Bridge

Advances in emotion and affective science have yet to translate routinely into psychiatric research and practice. This is unfortunate since emotion and affect are fundamental components of many psychiatric conditions. Rectifying this lack of interdisciplinary integration could thus be a potential avenue for improving psychiatric diagnosis and treatment. In this contribution, we propose and discuss an ontological framework for explicitly capturing the complex interrelations between affective entities and psychiatric disorders, in order to facilitate mapping and integration between affective science and psychiatric diagnostics. We build on and enhance the categorisation of emotion, affect and mood within the previously developed Emotion Ontology, and that of psychiatric disorders in the Mental Disease Ontology. This effort further draws on developments in formal ontology regarding the distinction between normal and abnormal in order to formalize the interconnections. This operational semantic framework is relevant for applications including clarifying psychiatric diagnostic categories, clinical information systems, and the integration and translation of research results across disciplines

Achieving Inclusivity by Design: Social and Contextual Information in Medical Knowledge

Objectives: To select, present, and summarize the most relevant papers published in 2020 and 2021 in the field of Knowledge Representation and Knowledge Management, Medical Vocabularies and Ontologies, with a particular focus on health inclusivity and bias. Methods: A broad search of the medical literature indexed in PubMed was conducted. The search terms 'ontology'/'ontologies' or 'medical knowledge management' for the dates 2020-2021 (search conducted November 26, 2021) returned 9,608 records. These were pre-screened based on a review of the titles for relevance to health inclusivity, bias, social and contextual factors, and health behaviours. Among these, 109 papers were selected for in-depth reviewing based on full text, from which 22 were selected for inclusion in this survey. Results: Selected papers were grouped into three themes, each addressing one aspect of the overall challenge for medical knowledge management. The first theme addressed the development of ontologies for social and contextual factors broadening the scope of health information. The second theme addressed the need for synthesis and translation of knowledge across historical disciplinary boundaries to address inequities and bias. The third theme encompassed a growing interest in the semantics of datasets used to train medical artificial intelligence systems and on how to ensure they are free of bias. Conclusions: Medical knowledge management and semantic resources have much to offer efforts to tackle bias and enhance health inclusivity. Tackling inequities and biases requires relevant, semantically rich data, which needs to be captured and exchanged

Metabolic influences on ageing in Caenorhabditis elegans: A time series multi-omics and metabolic modelling study

Ageing presents one of the most fundamental public health challenges of our time. Progress in living standards, combating infectious disease and promoting safety, and general nutritional availability, has led to an increase in lifespan across the developed world. However, this has been accompanied by an increase in the duration of late-life frailty and associated conditions affecting health. Metabolism is known to be a key mediator of ageing across the diversity of living species. Many of the pathways that extend lifespan and promote healthspan are known to be metabolic and relate to managing the balance of energy availability to optimise resource usage and survival during times of scarcity. The model organism Caenorhabditis elegans, a small transparent nematode worm that ordinarily lives in the soil and eats bacteria, is one of the most common organisms used in the study of ageing as it is easy to culture in laboratory conditions and has a short lifespan of around three weeks under normal conditions. In this thesis, I analyse in detail the metabolic changes that occur during ageing in C. elegans, using a multi-omics metabolomics and transcriptomics time series of measurements in three C. elegans strains, and mathematical modelling. Whole-genome metabolic models are representations of all the metabolic reactions taking place within an organism together with their metabolic inputs and outputs, and enzymatic catalysts. I describe the development and validation of a community-wide shared whole-genome metabolic model for C. elegans. Using this model together with measured gene expression levels for each enzyme that catalyses a reaction, it is possible to predict intracellular reaction fluxes using a method called Flux Balance Analysis (FBA). I describe a novel method for the integration of metabolomics data with FBA, and the results of a comparative analysis of the resulting fluxes in normal wild-type ageing. I then go on to describe the differences to a germline-free strain that is long-lived and metabolically different. Finally, I have used the model to probe the metabolic flexibility and evidence for trans-omics bidirectional regulation between the transcriptomic and metabolomic layers

Towards automatic classification within the ChEBI ontology

*Background*
Appearing in a wide variety of contexts, biochemical 'small molecules' are a core element of biomedical data. Chemical ontologies, which provide stable identifiers and a shared vocabulary for use in referring to such biochemical small molecules, are crucial to enable the interoperation of such data. One such chemical ontology is ChEBI (Chemical Entities of Biological Interest), a candidate member ontology of the OBO Foundry. ChEBI is a publicly available, manually annotated database of chemical entities and contains around 18000 annotated entities as of the last release (May 2009). ChEBI provides stable unique identifiers for chemical entities; a controlled vocabulary in the form of recommended names (which are unique and unambiguous), common synonyms, and systematic chemical names; cross-references to other databases; and a structural and role-based classification within the ontology. ChEBI is widely used for annotation of chemicals within biological databases, text-mining, and data integration. ChEBI can be accessed online at "http://www.ebi.ac.uk/chebi/":http://www.ebi.ac.uk/chebi/ and the full dataset is available for download in various formats including SDF and OBO.

*Automated Classification*
The selection of chemical entities for inclusion in the ChEBI database is user-driven. As the use of ChEBI has grown, so too has the backlog of user-requested entries. Inevitably, the annotation backlog creates a bottleneck, and to speed up the annotation process, ChEBI has recently released a submission tool which allows community submissions of chemical entities, groups, and classes. However, classification of chemical entities within the ontology is a difficult and niche activity, and it is unlikely that the community as a whole will be able or willing to correctly and consistently classify each submitted entity, creating required classes where they are missing. As a result, it is likely that while the size of the database grows, the ontological classification will become less sophisticated, unless the classification of new entities is assisted computationally. In addition, the ChEBI database is expecting substantial size growth in the next year, so automatic classification, which has up till now not been possible, is urgently required. Automatic classification would also enable the ChEBI ontology classes to be applied to other compound databases such as PubChem. 

*Description Logic Reasoning*
Description logic based reasoning technology is a prime candidate for development of such an automatic classification system as it allows the rules of the classification system to be encoded within the knowledgebase. Already at 18000 entities, ChEBI is a fair size for a real-world application of description logic reasoning technology, and as the ontology is enhanced with a richer density of asserted relationships, the classification will become more complex and challenging. We have successfully tested a description logic-based classification of chemical entities based on specified structural properties using the hypertableaux-based HermiT reasoner, and found it to be sufficiently efficient to be feasible for use in a production environment on a database of the size that ChEBI is now. However, much work still remains to enrich the ChEBI knowledgebase itself with the properties needed to provide the formal class definitions for use in the automated classification, and to assess the efficiency of the available description logic reasoning technology on a database the size of ChEBI's forecast future growth.

*Acknowledgements*
ChEBI is funded by the European Commission under SLING, grant agreement number 226073 (Integrating Activity) within Research Infrastructures of the FP7 Capacities Specific Programme, and by the BBSRC, grant agreement number BB/G022747/1 within the “Bioinformatics and biological resources” fund

Mapping the Patient’s Experience: An Applied Ontological Framework for Phenomenological Psychopathology

Mental health research faces a suite of unresolved challenges that have contributed to a stagnation of research efforts and treatment innovation. One such challenge is how to reliably and validly account for the subjective side of patient symptomatology, that is, the patient’s inner experiences or patient phenomenology. Providing a structured, standardised semantics for patient phenomenology would enable future research in novel directions. In this contribution, we aim at initiating a standardized approach to patient phenomenology by sketching a tentative formalisation within the framework of an applied ontology, in the broader context of existing open-source Open Biomedical Ontologies resources such as the Mental Functioning Ontology. We further discuss a number of prevailing challenges and observations bearing on this task

Theory and ontology in behavioural science

Peer reviewedPostprin

Creating ontological definitions for use in science

Ontologies aim to represent the world in terms of uniquely defined classes and their properties which are expressed as relationships with other classes. They are becoming widely used in science to improve clarity, searching, inference and the ability to link data from different sources. Ontological definitions are descriptions that represent the essential properties of classes of entities (which include objects, object attributes and processes) that distinguish them from other classes. Classes have unique IRIs (Internationalised Resource Identifiers) that can be used for searching; they also have labels which are words of phrases that people can use to identify the class in passages of text or tables. This article provides a brief guide to help with writing good ontological definitions. The standard format of such a definition of a class, A, is: ‘a B that C’ or its semantic equivalent, where A is the class being defined, B is a parent class and C describes a set of properties of A that distinguish it from other members of B

Experience of Health Care Professionals Using Digital Tools in the Hospital: Qualitative Systematic Review

Background The digitalization of health care has many potential benefits, but it may also negatively impact health care professionals’ well-being. Burnout can, in part, result from inefficient work processes related to the suboptimal implementation and use of health information technologies. Although strategies to reduce stress and mitigate clinician burnout typically involve individual-based interventions, emerging evidence suggests that improving the experience of using health information technologies can have a notable impact. Objective The aim of this systematic review was to collect evidence of the benefits and challenges associated with the use of digital tools in hospital settings with a particular focus on the experiences of health care professionals using these tools. Methods We conducted a systematic literature review following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines to explore the experience of health care professionals with digital tools in hospital settings. Using a rigorous selection process to ensure the methodological quality and validity of the study results, we included qualitative studies with distinct data that described the experiences of physicians and nurses. A panel of 3 independent researchers performed iterative data analysis and identified thematic constructs. Results Of the 1175 unique primary studies, we identified 17 (1.45%) publications that focused on health care professionals’ experiences with various digital tools in their day-to-day practice. Of the 17 studies, 10 (59%) focused on clinical decision support tools, followed by 6 (35%) studies focusing on electronic health records and 1 (6%) on a remote patient-monitoring tool. We propose a theoretical framework for understanding the complex interplay between the use of digital tools, experience, and outcomes. We identified 6 constructs that encompass the positive and negative experiences of health care professionals when using digital tools, along with moderators and outcomes. Positive experiences included feeling confident, responsible, and satisfied, whereas negative experiences included frustration, feeling overwhelmed, and feeling frightened. Positive moderators that may reinforce the use of digital tools included sufficient training and adequate workflow integration, whereas negative moderators comprised unfavorable social structures and the lack of training. Positive outcomes included improved patient care and increased workflow efficiency, whereas negative outcomes included increased workload, increased safety risks, and issues with information quality. Conclusions Although positive and negative outcomes and moderators that may affect the use of digital tools were commonly reported, the experiences of health care professionals, such as their thoughts and emotions, were less frequently discussed. On the basis of this finding, this study highlights the need for further research specifically targeting experiences as an important mediator of clinician well-being. It also emphasizes the importance of considering differences in the nature of specific tools as well as the profession and role of individual users. Trial Registration PROSPERO CRD42023393883; https://tinyurl.com/2htpzzx

Annotating affective neuroscience data with the Emotion Ontology

The Emotion Ontology is an ontology covering all aspects of emotional and affective mental functioning. It is being developed following the principles of the OBO Foundry and Ontological Realism. This means that in compiling the ontology, we emphasize the importance of the nature of the entities in reality that the ontology is describing. One of the ways in which realism-based ontologies are being successfully used within biomedical science is in the annotation of scientific research results in publicly available databases. Such annotation enables several objectives, including searching, browsing and cross-database data integration. A key benefit conferred by realismbased ontology is that suitably annotated research results are able to be aggregated and compared in a fashion that is based on the underlying reality that the science is studying. This has the potential of increasing the power of statistical analysis and meta-analysis in data-driven science. This aspect has been fruitfully exploited in the investigation of the functions of genes in molecular biology. Cognitive neuroscience uses functional neuroimaging to investigate the brain correlates of areas of mental functioning such as memory, planning and emotion. The use of functional neuroimaging to study affective phenomena such as the emotions is called ‘affective neuroscience’. BrainMap is the largest curated database of coordinates and metadata for studies in cognitive neuroscience, including affective neuroscience (Laird et al., 2005). BrainMap data is already classified and indexed using a terminology for classification, called the ‘Cognitive Paradigm Ontology’ (CogPO), that has been developed to facilitate searching and browsing. However, CogPO has been developed specifically for the BrainMap database, and the data are thus far not annotated to a realism-based ontology which would allow the discovery of interrelationships between research results across different databases on the basis of what the research is about. In this contribution, we describe ongoing work that aims to annotate affective neuroscience data, starting with the BrainMap database, using the Emotion Ontology. We describe our objectives and technical approach to the annotation, and mention some of the challenges