TrhOnt: building an ontology to assist rehabilitation processes

Background: One of the current research efforts in the area of biomedicine is the representation of knowledge in a structured way so that reasoning can be performed on it. More precisely, in the field of physiotherapy, information such as the physiotherapy record of a patient or treatment protocols for specific disorders must be adequately modeled, because they play a relevant role in the management of the evolutionary recovery process of a patient. In this scenario, we introduce TRHONT, an application ontology that can assist physiotherapists in the management of the patients' evolution via reasoning supported by semantic technology. Methods: The ontology was developed following the NeOn Methodology. It integrates knowledge from ontological (e.g. FMA ontology) and non-ontological resources (e.g. a database of movements, exercises and treatment protocols) as well as additional physiotherapy-related knowledge. Results: We demonstrate how the ontology fulfills the purpose of providing a reference model for the representation of the physiotherapy-related information that is needed for the whole physiotherapy treatment of patients, since they step for the first time into the physiotherapist's office, until they are discharged. More specifically, we present the results for each of the intended uses of the ontology listed in the document that specifies its requirements, and show how TRHONT can answer the competency questions defined within that document. Moreover, we detail the main steps of the process followed to build the TRHONT ontology in order to facilitate its reproducibility in a similar context. Finally, we show an evaluation of the ontology from different perspectives. Conclusions: TRHONT has achieved the purpose of allowing for a reasoning process that changes over time according to the patient's state and performance.Authors thank Dr. Jon Torres and Dr. Jesus Seco for their help with the physiotherapy-related aspects. Authors thank Dr. Maria Poveda-Villalon for her help with OOPS!. This work was supported by the Spanish Ministry of Economy and Competitiveness [grant number FEDER/TIN2013-46238-C4-1-R] and by the Basque Country Government [grant number IT797-13]

Application of Semantics to Solve Problems in Life Sciences

Fecha de lectura de Tesis: 10 de diciembre de 2018La cantidad de información que se genera en la Web se ha incrementado en los últimos años. La mayor parte de esta información se encuentra accesible en texto, siendo el ser humano el principal usuario de la Web. Sin embargo, a pesar de todos los avances producidos en el área del procesamiento del lenguaje natural, los ordenadores tienen problemas para procesar esta información textual. En este cotexto, existen dominios de aplicación en los que se están publicando grandes cantidades de información disponible como datos estructurados como en el área de las Ciencias de la Vida. El análisis de estos datos es de vital importancia no sólo para el avance de la ciencia, sino para producir avances en el ámbito de la salud. Sin embargo, estos datos están localizados en diferentes repositorios y almacenados en diferentes formatos que hacen difícil su integración. En este contexto, el paradigma de los Datos Vinculados como una tecnología que incluye la aplicación de algunos estándares propuestos por la comunidad W3C tales como HTTP URIs, los estándares RDF y OWL. Haciendo uso de esta tecnología, se ha desarrollado esta tesis doctoral basada en cubrir los siguientes objetivos principales: 1) promover el uso de los datos vinculados por parte de la comunidad de usuarios del ámbito de las Ciencias de la Vida 2) facilitar el diseño de consultas SPARQL mediante el descubrimiento del modelo subyacente en los repositorios RDF 3) crear un entorno colaborativo que facilite el consumo de Datos Vinculados por usuarios finales, 4) desarrollar un algoritmo que, de forma automática, permita descubrir el modelo semántico en OWL de un repositorio RDF, 5) desarrollar una representación en OWL de ICD-10-CM llamada Dione que ofrezca una metodología automática para la clasificación de enfermedades de pacientes y su posterior validación haciendo uso de un razonador OWL

Knowledge-based Biomedical Data Science 2019

Knowledge-based biomedical data science (KBDS) involves the design and implementation of computer systems that act as if they knew about biomedicine. Such systems depend on formally represented knowledge in computer systems, often in the form of knowledge graphs. Here we survey the progress in the last year in systems that use formally represented knowledge to address data science problems in both clinical and biological domains, as well as on approaches for creating knowledge graphs. Major themes include the relationships between knowledge graphs and machine learning, the use of natural language processing, and the expansion of knowledge-based approaches to novel domains, such as Chinese Traditional Medicine and biodiversity.Comment: Manuscript 43 pages with 3 tables; Supplemental material 43 pages with 3 table

A Novel Ontology and Machine Learning Driven Hybrid Clinical Decision Support Framework for Cardiovascular Preventative Care

Clinical risk assessment of chronic illnesses is a challenging and complex task which requires the utilisation of standardised clinical practice guidelines and documentation procedures in order to ensure consistent and efficient patient care. Conventional cardiovascular decision support systems have significant limitations, which include the inflexibility to deal with complex clinical processes, hard-wired rigid architectures based on branching logic and the inability to deal with legacy patient data without significant software engineering work. In light of these challenges, we are proposing a novel ontology and machine learning-driven hybrid clinical decision support framework for cardiovascular preventative care. An ontology-inspired approach provides a foundation for information collection, knowledge acquisition and decision support capabilities and aims to develop context sensitive decision support solutions based on ontology engineering principles. The proposed framework incorporates an ontology-driven clinical risk assessment and recommendation system (ODCRARS) and a Machine Learning Driven Prognostic System (MLDPS), integrated as a complete system to provide a cardiovascular preventative care solution. The proposed clinical decision support framework has been developed under the close supervision of clinical domain experts from both UK and US hospitals and is capable of handling multiple cardiovascular diseases. The proposed framework comprises of two novel key components: (1) ODCRARS (2) MLDPS. The ODCRARS is developed under the close supervision of consultant cardiologists Professor Calum MacRae from Harvard Medical School and Professor Stephen Leslie from Raigmore Hospital in Inverness, UK. The ODCRARS comprises of various components, which include: (a) Ontology-driven intelligent context-aware information collection for conducting patient interviews which are driven through a novel clinical questionnaire ontology. (b) A patient semantic profile, is generated using patient medical records which are collated during patient interviews (conducted through an ontology-driven context aware adaptive information collection component). The semantic transformation of patients’ medical data is carried out through a novel patient semantic profile ontology in order to give patient data an intrinsic meaning and alleviate interoperability issues with third party healthcare systems. (c) Ontology driven clinical decision support comprises of a recommendation ontology and a NICE/Expert driven clinical rules engine. The recommendation ontology is developed using clinical rules provided by the consultant cardiologist from the US hospital. The recommendation ontology utilises the patient semantic profile for lab tests and medication recommendation. A clinical rules engine is developed to implement a cardiac risk assessment mechanism for various cardiovascular conditions. The clinical rules engine is also utilised to control the patient flow within the integrated cardiovascular preventative care solution. The machine learning-driven prognostic system is developed in an iterative manner using state of the art feature selection and machine learning techniques. A prognostic model development process is exploited for the development of MLDPS based on clinical case studies in the cardiovascular domain. An additional clinical case study in the breast cancer domain is also carried out for the development and validation purposes. The prognostic model development process is general enough to handle a variety of healthcare datasets which will enable researchers to develop cost effective and evidence based clinical decision support systems. The proposed clinical decision support framework also provides a learning mechanism based on machine learning techniques. Learning mechanism is provided through exchange of patient data amongst the MLDPS and the ODCRARS. The machine learning-driven prognostic system is validated using Raigmore Hospital's RACPC, heart disease and breast cancer clinical case studies

An ontology-driven architecture for data integration and management in home-based telemonitoring scenarios

The shift from traditional medical care to the use of new technology and engineering innovations is nowadays an interesting and growing research area mainly motivated by a growing population with chronic conditions and disabilities. By means of information and communications technologies (ICTs), telemedicine systems offer a good solution for providing medical care at a distance to any person in any place at any time. Although significant contributions have been made in this field in recent decades, telemedicine and in e-health scenarios in general still pose numerous challenges that need to be addressed by researchers in order to take maximum advantage of the benefits that these systems provide and to support their long-term implementation. The goal of this research thesis is to make contributions in the field of home-based telemonitoring scenarios. By periodically collecting patients' clinical data and transferring them to physicians located in remote sites, patient health status supervision and feedback provision is possible. This type of telemedicine system guarantees patient supervision while reducing costs (enabling more autonomous patient care and avoiding hospital over flows). Furthermore, patients' quality of life and empowerment are improved. Specifically, this research investigates how a new architecture based on ontologies can be successfully used to address the main challenges presented in home-based telemonitoring scenarios. The challenges include data integration, personalized care, multi-chronic conditions, clinical and technical management. These are the principal issues presented and discussed in this thesis. The proposed new ontology-based architecture takes into account both practical and conceptual integration issues and the transference of data between the end points of the telemonitoring scenario (i.e, communication and message exchange). The architecture includes two layers: 1) a conceptual layer and 2) a data and communication layer. On the one hand, the conceptual layer based on ontologies is proposed to unify the management procedure and integrate incoming data from all the sources involved in the telemonitoring process. On the other hand, the data and communication layer based on web service technologies is proposed to provide practical back-up to the use of the ontology, to provide a real implementation of the tasks it describes and thus to provide a means of exchanging data. This architecture takes advantage of the combination of ontologies, rules, web services and the autonomic computing paradigm. All are well-known technologies and popular solutions applied in the semantic web domain and network management field. A review of these technologies and related works that have made use of them is presented in this thesis in order to understand how they can be combined successfully to provide a solution for telemonitoring scenarios. The design and development of the ontology used in the conceptual layer led to the study of the autonomic computing paradigm and its combination with ontologies. In addition, the OWL (Ontology Web Language) language was studied and selected to express the required knowledge in the ontology while the SPARQL language was examined for its effective use in defining rules. As an outcome of these research tasks, the HOTMES (Home Ontology for Integrated Management in Telemonitoring Scenarios) ontology, presented in this thesis, was developed. The combination of the HOTMES ontology with SPARQL rules to provide a flexible solution for personalising management tasks and adapting the methodology for different management purposes is also discussed. The use of Web Services (WSs) was investigated to support the exchange of information defined in the conceptual layer of the architecture. A generic ontology based solution was designed to integrate data and management procedures in the data and communication layer of the architecture. This is an innovative REST-inspired architecture that allows information contained in an ontology to be exchanged in a generic manner. This layer structure and its communication method provide the approach with scalability and re-usability features. The application of the HOTMES-based architecture has been studied for clinical purposes following three simple methodological stages described in this thesis. Data and management integration for context-aware and personalized monitoring services for patients with chronic conditions in the telemonitoring scenario are thus addressed. In particular, the extension of the HOTMES ontology defines a patient profile. These profiles in combination with individual rules provide clinical guidelines aiming to monitor and evaluate the evolution of the patient's health status evolution. This research implied a multi-disciplinary collaboration where clinicians had an essential role both in the ontology definition and in the validation of the proposed approach. Patient profiles were defined for 16 types of different diseases. Finally, two solutions were explored and compared in this thesis to address the remote technical management of all devices that comprise the telemonitoring scenario. The first solution was based on the HOTMES ontology-based architecture. The second solution was based on the most popular TCP/IP management architecture, SNMP (Simple Network Management Protocol). As a general conclusion, it has been demonstrated that the combination of ontologies, rules, WSs and the autonomic computing paradigm takes advantage of the main benefits that these technologies can offer in terms of knowledge representation, work flow organization, data transference, personalization of services and self-management capabilities. It has been proven that ontologies can be successfully used to provide clear descriptions of managed data (both clinical and technical) and ways of managing such information. This represents a further step towards the possibility of establishing more effective home-based telemonitoring systems and thus improving the remote care of patients with chronic diseases

Ontology driven clinical decision support for early diagnostic recommendations

Diagnostic error is a significant problem in medicine and a major cause of concern for patients and clinicians and is associated with moderate to severe harm to patients. Diagnostic errors are a primary cause of clinical negligence and can result in malpractice claims. Cognitive errors caused by biases such as premature closure and confirmation bias have been identified as major cause of diagnostic error. Researchers have identified several strategies to reduce diagnostic error arising from cognitive factors. This includes considering alternatives, reducing reliance on memory, providing access to clear and well-organized information. Clinical Decision Support Systems (CDSSs) have been shown to reduce diagnostic errors. Clinical guidelines improve consistency of care and can potentially improve healthcare efficiency. They can alert clinicians to diagnostic tests and procedures that have the greatest evidence and provide the greatest benefit. Clinical guidelines can be used to streamline clinical decision making and provide the knowledge base for guideline based CDSSs and clinical alert systems. Clinical guidelines can potentially improve diagnostic decision making by improving information gathering. Argumentation is an emerging area for dealing with unstructured evidence in domains such as healthcare that are characterized by uncertainty. The knowledge needed to support decision making is expressed in the form of arguments. Argumentation has certain advantages over other decision support reasoning methods. This includes the ability to function with incomplete information, the ability to capture domain knowledge in an easy manner, using non-monotonic logic to support defeasible reasoning and providing recommendations in a manner that can be easily explained to clinicians. Argumentation is therefore a suitable method for generating early diagnostic recommendations. Argumentation-based CDSSs have been developed in a wide variety of clinical domains. However, the impact of an argumentation-based diagnostic Clinical Decision Support System (CDSS) has not been evaluated yet. The first part of this thesis evaluates the impact of guideline recommendations and an argumentation-based diagnostic CDSS on clinician information gathering and diagnostic decision making. In addition, the impact of guideline recommendations on management decision making was evaluated. The study found that argumentation is a viable method for generating diagnostic recommendations that can potentially help reduce diagnostic error. The study showed that guideline recommendations do have a positive impact on information gathering of optometrists and can potentially help optometrists in asking the right questions and performing tests as per current standards of care. Guideline recommendations were found to have a positive impact on management decision making. The CDSS is dependent on quality of data that is entered into the system. Faulty interpretation of data can lead the clinician to enter wrong data and cause the CDSS to provide wrong recommendations. Current generation argumentation-based CDSSs and other diagnostic decision support systems have problems with semantic interoperability that prevents them from using data from the web. The clinician and CDSS is limited to information collected during a clinical encounter and cannot access information on the web that could be relevant to a patient. This is due to the distributed nature of medical information and lack of semantic interoperability between healthcare systems. Current argumentation-based decision support applications require specialized tools for modelling and execution and this prevents widespread use and adoption of these tools especially when these tools require additional training and licensing arrangements. Semantic web and linked data technologies have been developed to overcome problems with semantic interoperability on the web. Ontology-based diagnostic CDSS applications have been developed using semantic web technology to overcome problems with semantic interoperability of healthcare data in decision support applications. However, these models have problems with expressiveness, requiring specialized software and algorithms for generating diagnostic recommendations. The second part of this thesis describes the development of an argumentation-based ontology driven diagnostic model and CDSS that can execute this model to generate ranked diagnostic recommendations. This novel model called the Disease-Symptom Model combines strengths of argumentation with strengths of semantic web technology. The model allows the domain expert to model arguments favouring and negating a diagnosis using OWL/RDF language. The model uses a simple weighting scheme that represents the degree of support of each argument within the model. The model uses SPARQL to sum weights and produce a ranked diagnostic recommendation. The model can provide justifications for each recommendation in a manner that clinicians can easily understand. CDSS prototypes that can execute this ontology model to generate diagnostic recommendations were developed. The decision support prototypes demonstrated the ability to use a wide variety of data and access remote data sources using linked data technologies to generate recommendations. The thesis was able to demonstrate the development of an argumentation-based ontology driven diagnostic decision support model and decision support system that can integrate information from a variety of sources to generate diagnostic recommendations. This decision support application was developed without the use of specialized software and tools for modelling and execution, while using a simple modelling method. The third part of this thesis details evaluation of the Disease-Symptom model across all stages of a clinical encounter by comparing the performance of the model with clinicians. The evaluation showed that the Disease-Symptom Model can provide a ranked diagnostic recommendation in early stages of the clinical encounter that is comparable to clinicians. The diagnostic performance can be improved in the early stages using linked data technologies to incorporate more information into the decision making. With limited information, depending on the type of case, the performance of the Disease-Symptom Model will vary. As more information is collected during the clinical encounter the decision support application can provide recommendations that is comparable to clinicians recruited for the study. The evaluation showed that even with a simple weighting and summation method used in the Disease- Symptom Model the diagnostic ranking was comparable to dentists. With limited information in the early stages of the clinical encounter the Disease-Symptom Model was able to provide an accurately ranked diagnostic recommendation validating the model and methods used in this thesis

Mobile Health in Remote Patient Monitoring for Chronic Diseases: Principles, Trends, and Challenges

Chronic diseases are becoming more widespread. Treatment and monitoring of these diseases require going to hospitals frequently, which increases the burdens of hospitals and patients. Presently, advancements in wearable sensors and communication protocol contribute to enriching the healthcare system in a way that will reshape healthcare services shortly. Remote patient monitoring (RPM) is the foremost of these advancements. RPM systems are based on the collection of patient vital signs extracted using invasive and noninvasive techniques, then sending them in real-time to physicians. These data may help physicians in taking the right decision at the right time. The main objective of this paper is to outline research directions on remote patient monitoring, explain the role of AI in building RPM systems, make an overview of the state of the art of RPM, its advantages, its challenges, and its probable future directions. For studying the literature, five databases have been chosen (i.e., science direct, IEEE-Explore, Springer, PubMed, and science.gov). We followed the (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) PRISMA, which is a standard methodology for systematic reviews and meta-analyses. A total of 56 articles are reviewed based on the combination of a set of selected search terms including RPM, data mining, clinical decision support system, electronic health record, cloud computing, internet of things, and wireless body area network. The result of this study approved the effectiveness of RPM in improving healthcare delivery, increase diagnosis speed, and reduce costs. To this end, we also present the chronic disease monitoring system as a case study to provide enhanced solutions for RPMsThis research work was partially supported by the Sejong University Research Faculty Program (20212023)S

An ontology for formal representation of medication adherence-related knowledge : case study in breast cancer

Indiana University-Purdue University Indianapolis (IUPUI)Medication non-adherence is a major healthcare problem that negatively impacts the health and productivity of individuals and society as a whole. Reasons for medication non-adherence are multi-faced, with no clear-cut solution. Adherence to medication remains a difficult area to study, due to inconsistencies in representing medicationadherence behavior data that poses a challenge to humans and today’s computer technology related to interpreting and synthesizing such complex information. Developing a consistent conceptual framework to medication adherence is needed to facilitate domain understanding, sharing, and communicating, as well as enabling researchers to formally compare the findings of studies in systematic reviews. The goal of this research is to create a common language that bridges human and computer technology by developing a controlled structured vocabulary of medication adherence behavior—“Medication Adherence Behavior Ontology” (MAB-Ontology) using breast cancer as a case study to inform and evaluate the proposed ontology and demonstrating its application to real-world situation. The intention is for MAB-Ontology to be developed against the background of a philosophical analysis of terms, such as belief, and desire to be human, computer-understandable, and interoperable with other systems that support scientific research. The design process for MAB-Ontology carried out using the METHONTOLOGY method incorporated with the Basic Formal Ontology (BFO) principles of best practice. This approach introduces a novel knowledge acquisition step that guides capturing medication-adherence-related data from different knowledge sources, including adherence assessment, adherence determinants, adherence theories, adherence taxonomies, and tacit knowledge source types. These sources were analyzed using a systematic approach that involved some questions applied to all source types to guide data extraction and inform domain conceptualization. A set of intermediate representations involving tables and graphs was used to allow for domain evaluation before implementation. The resulting ontology included 629 classes, 529 individuals, 51 object property, and 2 data property. The intermediate representation was formalized into OWL using Protégé. The MAB-Ontology was evaluated through competency questions, use-case scenario, face validity and was found to satisfy the requirement specification. This study provides a unified method for developing a computerized-based adherence model that can be applied among various disease groups and different drug categories