Biomedical ontologies: What part-of is and isn’t

AbstractMereological relations such as part-of and its inverse has-part are fundamental to the description of the structure of living organisms. Whereas classical mereology focuses on individual entities, mereological relations in biomedical ontologies are generally asserted between classes of individuals. In general, this practice leaves some basic issues unanswered: type constraints of mereological relations, e.g., concerning artifacts and biological entities, the relation between parthood and time, inferred parts and wholes as well as a delimitation of parthood against spatial inclusion. Furthermore, mereological relations can be asserted not only between physical objects but also between biological processes and medical procedures. We analyze these ambiguities and make suggestions for a standardization of mereological relations in biomedical ontologies

HSLIC Annual Report FY2003-04

https://digitalrepository.unm.edu/hslic-annual-reports/1014/thumbnail.jp

Foundation, Implementation and Evaluation of the MorphoSaurus System: Subword Indexing, Lexical Learning and Word Sense Disambiguation for Medical Cross-Language Information Retrieval

Im medizinischen Alltag, zu welchem viel Dokumentations- und Recherchearbeit gehört, ist mittlerweile der überwiegende Teil textuell kodierter Information elektronisch verfügbar. Hiermit kommt der Entwicklung leistungsfähiger Methoden zur effizienten Recherche eine vorrangige Bedeutung zu. Bewertet man die Nützlichkeit gängiger Textretrievalsysteme aus dem Blickwinkel der medizinischen Fachsprache, dann mangelt es ihnen an morphologischer Funktionalität (Flexion, Derivation und Komposition), lexikalisch-semantischer Funktionalität und der Fähigkeit zu einer sprachübergreifenden Analyse großer Dokumentenbestände. In der vorliegenden Promotionsschrift werden die theoretischen Grundlagen des MorphoSaurus-Systems (ein Akronym für Morphem-Thesaurus) behandelt. Dessen methodischer Kern stellt ein um Morpheme der medizinischen Fach- und Laiensprache gruppierter Thesaurus dar, dessen Einträge mittels semantischer Relationen sprachübergreifend verknüpft sind. Darauf aufbauend wird ein Verfahren vorgestellt, welches (komplexe) Wörter in Morpheme segmentiert, die durch sprachunabhängige, konzeptklassenartige Symbole ersetzt werden. Die resultierende Repräsentation ist die Basis für das sprachübergreifende, morphemorientierte Textretrieval. Neben der Kerntechnologie wird eine Methode zur automatischen Akquise von Lexikoneinträgen vorgestellt, wodurch bestehende Morphemlexika um weitere Sprachen ergänzt werden. Die Berücksichtigung sprachübergreifender Phänomene führt im Anschluss zu einem neuartigen Verfahren zur Auflösung von semantischen Ambiguitäten. Die Leistungsfähigkeit des morphemorientierten Textretrievals wird im Rahmen umfangreicher, standardisierter Evaluationen empirisch getestet und gängigen Herangehensweisen gegenübergestellt

Disambiguation of biomedical text using diverse sources of information

Background: Like text in other domains, biomedical documents contain a range of terms with more than one possible meaning. These ambiguities form a significant obstacle to the automatic processing of biomedical texts. Previous approaches to resolving this problem have made use of various sources of information including linguistic features of the context in which the ambiguous term is used and domain-specific resources, such as UMLS. Materials and methods: We compare various sources of information including ones which have been previously used and a novel one: MeSH terms. Evaluation is carried out using a standard test set (the NLM-WSD corpus). Results: The best performance is obtained using a combination of linguistic features and MeSH terms. Performance of our system exceeds previously published results for systems evaluated using the same data set. Conclusion: Disambiguation of biomedical terms benefits from the use of information from a variety of sources. In particular, MeSH terms have proved to be useful and should be used if available

Spatial location and its relevance for terminological inferences in bio-ontologies

<p>Abstract</p> <p>Background</p> <p>An adequate and expressive ontological representation of biological organisms and their parts requires formal reasoning mechanisms for their relations of physical aggregation and containment.</p> <p>Results</p> <p>We demonstrate that the proposed formalism allows to deal consistently with "role propagation along non-taxonomic hierarchies", a problem which had repeatedly been identified as an intricate reasoning problem in biomedical ontologies.</p> <p>Conclusion</p> <p>The proposed approach seems to be suitable for the redesign of compositional hierarchies in (bio)medical terminology systems which are embedded into the framework of the OBO (Open Biological Ontologies) Relation Ontology and are using knowledge representation languages developed by the Semantic Web community.</p

A national clinical decision support infrastructure to enable the widespread and consistent practice of genomic and personalized medicine

<p>Abstract</p> <p>Background</p> <p>In recent years, the completion of the Human Genome Project and other rapid advances in genomics have led to increasing anticipation of an era of genomic and personalized medicine, in which an individual's health is optimized through the use of all available patient data, including data on the individual's genome and its downstream products. Genomic and personalized medicine could transform healthcare systems and catalyze significant reductions in morbidity, mortality, and overall healthcare costs.</p> <p>Discussion</p> <p>Critical to the achievement of more efficient and effective healthcare enabled by genomics is the establishment of a robust, nationwide clinical decision support infrastructure that assists clinicians in their use of genomic assays to guide disease prevention, diagnosis, and therapy. Requisite components of this infrastructure include the standardized representation of genomic and non-genomic patient data across health information systems; centrally managed repositories of computer-processable medical knowledge; and standardized approaches for applying these knowledge resources against patient data to generate and deliver patient-specific care recommendations. Here, we provide recommendations for establishing a national decision support infrastructure for genomic and personalized medicine that fulfills these needs, leverages existing resources, and is aligned with the <it>Roadmap for National Action on Clinical Decision Support </it>commissioned by the U.S. Office of the National Coordinator for Health Information Technology. Critical to the establishment of this infrastructure will be strong leadership and substantial funding from the federal government.</p> <p>Summary</p> <p>A national clinical decision support infrastructure will be required for reaping the full benefits of genomic and personalized medicine. Essential components of this infrastructure include standards for data representation; centrally managed knowledge repositories; and standardized approaches for leveraging these knowledge repositories to generate patient-specific care recommendations at the point of care.</p

Towards computerizing intensive care sedation guidelines: design of a rule-based architecture for automated execution of clinical guidelines

<p>Abstract</p> <p>Background</p> <p>Computerized ICUs rely on software services to convey the medical condition of their patients as well as assisting the staff in taking treatment decisions. Such services are useful for following clinical guidelines quickly and accurately. However, the development of services is often time-consuming and error-prone. Consequently, many care-related activities are still conducted based on manually constructed guidelines. These are often ambiguous, which leads to unnecessary variations in treatments and costs.</p> <p>The goal of this paper is to present a semi-automatic verification and translation framework capable of turning manually constructed diagrams into ready-to-use programs. This framework combines the strengths of the manual and service-oriented approaches while decreasing their disadvantages. The aim is to close the gap in communication between the IT and the medical domain. This leads to a less time-consuming and error-prone development phase and a shorter clinical evaluation phase.</p> <p>Methods</p> <p>A framework is proposed that semi-automatically translates a clinical guideline, expressed as an XML-based flow chart, into a Drools Rule Flow by employing semantic technologies such as ontologies and SWRL. An overview of the architecture is given and all the technology choices are thoroughly motivated. Finally, it is shown how this framework can be integrated into a service-oriented architecture (SOA).</p> <p>Results</p> <p>The applicability of the Drools Rule language to express clinical guidelines is evaluated by translating an example guideline, namely the sedation protocol used for the anaesthetization of patients, to a Drools Rule Flow and executing and deploying this Rule-based application as a part of a SOA. The results show that the performance of Drools is comparable to other technologies such as Web Services and increases with the number of decision nodes present in the Rule Flow. Most delays are introduced by loading the Rule Flows.</p> <p>Conclusions</p> <p>The framework is an effective solution for computerizing clinical guidelines as it allows for quick development, evaluation and human-readable visualization of the Rules and has a good performance. By monitoring the parameters of the patient to automatically detect exceptional situations and problems and by notifying the medical staff of tasks that need to be performed, the computerized sedation guideline improves the execution of the guideline.</p

HSLIC Annual Report FY2002-03

https://digitalrepository.unm.edu/hslic-annual-reports/1013/thumbnail.jp

Word Sense Disambiguation for clinical abbreviations

Abbreviations are extensively used in electronic health records (EHR) of patients as well as medical documentation, reaching 30-50% of the words in clinical narrative. There are more than 197,000 unique medical abbreviations found in the clinical text and their meanings vary depending on the context in which they are used. Since data in electronic health records could be shareable across health information systems (hospitals, primary care centers, etc.) as well as others such as insurance companies information systems, it is essential determining the correct meaning of the abbreviations to avoid misunderstandings. Clinical abbreviations have specific characteristic that do not follow any standard rules for creating them. This makes it complicated to find said abbreviations and corresponding meanings. Furthermore, there is an added difficulty to working with clinical data due to privacy reasons, since it is essential to have them in order to develop and test algorithms. Word sense disambiguation (WSD) is an essential task in natural language processing (NLP) applications such as information extraction, chatbots and summarization systems among others. WSD aims to identify the correct meaning of the ambiguous word which has more than one meaning. Disambiguating clinical abbreviations is a type of lexical sample WSD task. Previous research works adopted supervised, unsupervised and Knowledge-based (KB) approaches to disambiguate clinical abbreviations. This thesis aims to propose a classification model that apart from disambiguating well known abbreviations also disambiguates rare and unseen abbreviations using the most recent deep neural network architectures for language modeling. In clinical abbreviation disambiguation several resources and disambiguation models were encountered. Different classification approaches used to disambiguate the clinical abbreviations were investigated in this thesis. Considering that computers do not directly understand texts, different data representations were implemented to capture the meaning of the words. Since it is also necessary to measure the performance of algorithms, the evaluation measurements used are discussed. As the different solutions proposed to clinical WSD we have explored static word embeddings data representation on 13 English clinical abbreviations of the UMN data set (from University of Minnesota) by testing traditional supervised machine learning algorithms separately for each abbreviation. Moreover, we have utilized a transformer-base pretrained model that was fine-tuned as a multi-classification classifier for the whole data set (75 abbreviations of the UMN data set). The aim of implementing just one multi-class classifier is to predict rare and unseen abbreviations that are most common in clinical narrative. Additionally, other experiments were conducted for a different type of abbreviations (scientific abbreviations and acronyms) by defining a hybrid approach composed of supervised and knowledge-based approaches. Most previous works tend to build a separated classifier for each clinical abbreviation, tending to leverage different data resources to overcome the data acquisition bottleneck. However, those models were restricted to disambiguate terms that have been seen in trained data. Meanwhile, based on our results, transfer learning by fine-tuning a transformer-based model could predict rare and unseen abbreviations. A remaining challenge for future work is to improve the model to automate the disambiguation of clinical abbreviations on run-time systems by implementing self-supervised learning models.Las abreviaturas se utilizan ampliamente en las historias clínicas electrónicas de los pacientes y en mucha documentación médica, llegando a ser un 30-50% de las palabras empleadas en narrativa clínica. Existen más de 197.000 abreviaturas únicas usadas en textos clínicos siendo términos altamente ambiguos El significado de las abreviaturas varía en función del contexto en el que se utilicen. Dado que los datos de las historias clínicas electrónicas pueden compartirse entre servicios, hospitales, centros de atención primaria así como otras organizaciones como por ejemplo, las compañías de seguros es fundamental determinar el significado correcto de las abreviaturas para evitar además eventos adversos relacionados con la seguridad del paciente. Nuevas abreviaturas clínicas aparecen constantemente y tienen la característica específica de que no siguen ningún estándar para su creación. Esto hace que sea muy difícil disponer de un recurso con todas las abreviaturas y todos sus significados. A todo esto hay que añadir la dificultad para trabajar con datos clínicos por cuestiones de privacidad cuando es esencial disponer de ellos para poder desarrollar algoritmos para su tratamiento. La desambiguación del sentido de las palabras (WSD, en inglés) es una tarea esencial en tareas de procesamiento del lenguaje natural (PLN) como extracción de información, chatbots o generadores de resúmenes, entre otros. WSD tiene como objetivo identificar el significado correcto de una palabra ambigua (que tiene más de un significado). Esta tarea se ha abordado previamente utilizando tanto enfoques supervisados, no supervisados así como basados en conocimiento. Esta tesis tiene como objetivo definir un modelo de clasificación que además de desambiguar abreviaturas conocidas desambigüe también abreviaturas menos frecuentes que no han aparecido previamente en los conjuntos de entrenaminto utilizando las arquitecturas de redes neuronales profundas más recientes relacionadas ocn los modelos del lenguaje. En la desambiguación de abreviaturas clínicas se emplean diversos recursos y modelos de desambiguación. Se han investigado los diferentes enfoques de clasificación utilizados para desambiguar las abreviaturas clínicas. Dado que un ordenador no comprende directamente los textos, se han implementado diferentes representaciones de textos para capturar el significado de las palabras. Puesto que también es necesario medir el desempeño de cualquier algoritmo, se describen también las medidas de evaluación utilizadas. La mayoría de los trabajos previos se han basado en la construcción de un clasificador separado para cada abreviatura clínica. De este modo, tienden a aprovechar diferentes recursos de datos para superar el cuello de botella de la adquisición de datos. Sin embargo, estos modelos se limitaban a desambiguar con los datos para los que el sistema había sido entrenado. Se han explorado además representaciones basadas vectores de palabras (word embeddings) estáticos para 13 abreviaturas clínicas en el corpus UMN en inglés (de la University of Minnesota) utilizando algoritmos de clasificación tradicionales de aprendizaje automático supervisados (un clasificador por cada abreviatura). Se ha llevado a cabo un segundo experimento utilizando un modelo multi-clasificador sobre todo el conjunto de las 75 abreviaturas del corpus UMN basado en un modelo Transformer pre-entrenado. El objetivo ha sido implementar un clasificador multiclase para predecir también abreviaturas raras y no vistas. Se realizó un experimento adicional para siglas científicas en documentos de dominio abierto mediante la aplicación de un enfoque híbrido compuesto por enfoques supervisados y basados en el conocimiento. Así, basándonos en los resultados de esta tesis, el aprendizaje por transferencia (transfer learning) mediante el ajuste (fine-tuning) de un modelo de lenguaje preentrenado podría predecir abreviaturas raras y no vistas sin necesidad de entrenarlas previamente. Un reto pendiente para el trabajo futuro es mejorar el modelo para automatizar la desambiguación de las abreviaturas clínicas en tiempo de ejecución mediante la implementación de modelos de aprendizaje autosupervisados.Programa de Doctorado en Ciencia y Tecnología Informática por la Universidad Carlos III de MadridPresidente: Israel González Carrasco.- Secretario: Leonardo Campillos Llanos.- Vocal: Ana María García Serran

The Role of Healthcare Informatics Competencies (HICs) and IT Capabilities for Service Innovation in Paramedicine

Paramedic services in the developed world face several problems, often manifesting in unavailability of ambulances, and other negative effects. Paramedic services are innovating with new service delivery models and technologies, yet the evidence that guides paramedic services in these processes is lacking. The purpose of this paper is to determine how paramedic services innovate, and how that innovation is influenced by technology in particular. This research integrates the Dynamic Capabilities, IT Capabilities and Health Informatics Competencies approaches in a multilevel model to understand this issue in a sample of Canadian paramedic services (n=43). The results suggest that paramedics with higher competencies related to identifying areas for technology understanding and application contribute to the ability of a paramedic service to respond to environmental changes. The relationship between IT and paramedic leadership, and the business expertise of the information technology staff also have an impact on the ability to change