Terminologia Anatomica; Considered from the Perspective of Next-Generation Knowledge Sources

This report examines the semantic structure of Terminologia Anatomica, taking one randomly selected page as an example. The focus of analysis is the meaning imparted to an anatomical term by virtue of its location within the structured list. Terminologia’s structure expressed through hierarchies of headings, varied typographical styles, indentations and an alphanumeric code implies specific relationships between the terms embedded in the list. Together, terms and relationships can potentially capture essential elements of anatomical knowledge. The analysis focuses on these knowledge elements and evaluates the consistency and logic in their representation. Most critical of these elements are class inclusion and part-whole relationships, which are implied, rather than explicitly modeled by Terminologia. This limits the use of the term list to those who have some knowledge of anatomy and excludes computer programs from navigating through the terminology. Assuring consistency in the explicit representation of anatomical relationships would facilitate adoption of Terminologia as the anatomical standard by the various controlled medical terminology (CMT) projects. These projects are motivated by the need for computerizing the patient record, and their aim is to generate machineunderstandable representations of biomedical concepts, including anatomy. Because of the lack of a consistent and explicit representation of anatomy, each of these CMTs has generated it own anatomy model. None of these models is compatible with each other, yet each is consistent with textbook descriptions of anatomy. The analysis of the semantic structure of Terminologia Anatomica leads to some suggestions for enhancing the term list in ways that would facilitate its adoption as the standard for anatomical knowledge representation in biomedical informatics

The Role of Foundational Relations in the Alignment of Biomedical Ontologies

The Foundational Model of Anatomy (FMA) symbolically represents the structural organization of the human body from the macromolecular to the macroscopic levels, with the goal of providing a robust and consistent scheme for classifying anatomical entities on the basis of explicit definitions. This scheme also provides a template for modeling pathology, physiological function and genotype-phenotype correlations, and it can thus serve as a reference ontology in biomedical informatics. Here we articulate the need for formally clarifying the is-a and partof relations in the FMA and similar ontology and terminology systems. We diagnose certain characteristic errors in the treatment of these relations and show how these errors can be avoided through adoption of the formalism we describe. We then illustrate how a consistently applied formal treatment of taxonomy and partonomy can support the alignment of ontologies

Knowledge Base Version Reintegration

Given two versions of a knowledge base (KB), independently modified, we investigated the problem of incorporating changes made to one KB version into the other. We have implemented a system that will perform such a reintegration, autonomously, using predetermined user preferences. This effort has lead to a greater insight into the version reintegration problem and has highlighted those areas where user intervention would be the most beneficial in a semi-autonomous system

A formal theory for spatial representation and reasoning in biomedical ontologies

Objective: The objective of this paper is to demonstrate how a formal spatial theory can be used as an important tool for disambiguating the spatial information embodied in biomedical ontologies and for enhancing their automatic reasoning capabilities. Method and Materials: This paper presents a formal theory of parthood and location relations among individuals, called Basic Inclusion Theory (BIT). Since biomedical ontologies are comprised of assertions about classes of individuals (rather than assertions about individuals), we define parthood and location relations among classes in the extended theory BIT+Cl (Basic Inclusion Theory for Classes). We then demonstrate the usefulness of this formal theory for making the logical structure of spatial information more precise in two ontologies concerned with human anatomy: the Foundational Model of Anatomy (FMA) and GALEN. Results: We find that in both the FMA and GALEN, class-level spatial relations with different logical properties are not always explicitly distinguished. As a result, the spatial information included in these biomedical ontologies is often ambiguous and the possibilities for implementing consistent automatic reasoning within or across ontologies are limited. Conclusion: Precise formal characterizations of all spatial relations assumed by a biomedical ontology are necessary to ensure that the information embodied in the ontology can be fully and coherently utilized in a computational environment. This paper can be seen as an important beginning step toward achieving this goal, but much more work is along these lines is required

An Intuitive Graphical Query Interface for Protégé Knowledge Bases

Emily is a graphical query engine for Protégé knowledge bases that was developed by the Structural Informatics Group (SIG) at the University of Washington. Currently this application is adapted for a specific knowledge model, the Foundational Model of Anatomy (FMA) [1], but it could readily be generalized for use with other Protégé knowledge bases. In developing the Emily query interface, our intent was to provide a tool that was simple and intuitive to use, like the Queries tab provided with Protégé, but with improved information retrieval capabilities. Although some more advanced query mechanisms exist, currently they are too complicated for non-expert end users. The Algernon tab [2], for example, provides extensive Protégé query capabilities but requires users to learn a query scripting language. We sought to develop a query interface that was intuitive enough for end users to operate, with only minor instruction, yet was powerful enough to gather interesting information from a knowledge base that was not easily attained by browsing alone

Is the internet bad news? The online news era and the market for high-quality news

We review and model the impact of the internet on the production and uptake of highquality news. Our review of trends in the market for news suggests 3 stylized facts: i) particular quality news markets are dominated by merely a few providers, ii) demand for quality news appears stable, but provision of news has become specialized; mainstream news is decoupled from quality news, and iii) the dominant business model of internet news mirrors that of radio, television, and newspapers in that costs of news production are recouped via advertising. We build a stylized model that rationalizes these facts. Our model captures three conflicting effects: (1) economies of scale in the production of news lead to monopolies on particular markets, (2) easy access to information on the internet makes it cheaper to provide high-quality news and to disseminate it via the web, which increases the production of such news; and (3) the existence of bloggers and news aggregators who recycle the stories of news-providers reduces the effective property rights of high-quality news producers, thus forcing the business model of the internet to be advertising-based. For the most likely cases, our model would imply that the internet does not constitute bad news for the provision and uptake of quality news

Imaging Informatics and the Human Brain Project: the Role of Structure, Review

(no abstract

Symbolic modeling of structural relationships in the Foundational Model of Anatomy

The need for a sharable resource that can provide deep anatomical knowledge and support inference for biomedical applications has recently been the driving force in the creation of biomedical ontologies. Previous attempts at the symbolic representation of anatomical relationships necessary for such ontologies have been largely limited to general partonomy and class subsumption. We propose an ontology of anatomical relationships beyond class assignments and generic part-whole relations and illustrate the inheritance of structural attributes in the Digital Anatomist Foundational Model of Anatomy. Our purpose is to generate a symbolic model that accommodates all structural relationships and physical properties required to comprehensively and explicitly describe the physical organization of the human body

Paroxysmal Nocturnal Hemoglobinuria: New Thoughts

I have tried to summarize some of the facts we know, and some questions we need to ask in a disease which, although it is not common, probably is not as rare as we once thought. Once the diagnosis is made, one must be very careful in tending to the patients, since there are instances in which they react much differently than would normal people--either by the hemolytic episode or with other complications. This is especially true with regard to surgery, which may be extremely dangerous in these patients. The post-operative course may be complicated by thrombosis, infections, and other forms of morbidity. Identification of these patients is important, simple, and relatively helpful in their care

The Potential of the Digital Anatomist Foundational Model for Assuring Consistency in UMLS Sources

Inconsistent anatomical concept representation can be identified in anatomy textbooks and hard copy term lists, as well as in UMLS source vocabularies and other controlled medical terminologies. In this report we select some examples of inconsistent representations of anatomical concepts, and illustrate how these inconsistencies can be explained and reconciled by the Digital Anatomist Foundational Model1. We use this process for gaining a measure of the validity of the logic-based Model