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Barry Smith

Publications and source records attributed to Barry Smith.

At least 19 recordsLinked to original sources
PubMed2006

Quality control for terms and definitions in ontologies and taxonomies.

BACKGROUND: Ontologies and taxonomies are among the most important computational resources for molecular biology and bioinformatics. A series of recent papers has shown that the Gene Ontology (GO), the most prominent taxonomic resource in these fields, is marked by flaws of certain characteristic types, which flow from a failure to address basic ontological principles. As yet, no methods have been proposed which would allow ontology curators to pinpoint flawed terms or definitions in ontologies in a systematic way. RESULTS: We present computational methods that automatically identify terms and definitions which are defined in a circular or unintelligible way. We further demonstrate the potential of these methods by applying them to isolate a subset of 6001 problematic GO terms. By automatically aligning GO with other ontologies and taxonomies we were able to propose alternative synonyms and definitions for some of these problematic terms. This allows us to demonstrate that these other resources do not contain definitions superior to those supplied by GO. CONCLUSION: Our methods provide reliable indications of the quality of terms and definitions in ontologies and taxonomies. Further, they are well suited to assist ontology curators in drawing their attention to those terms that are ill-defined. We have further shown the limitations of ontology mapping and alignment in assisting ontology curators in rectifying problems, thus pointing to the need for manual curation.

Artificial Intelligence↗
PubMed2006

Hand-assisted laparoscopic splenectomy and devascularization of the upper stomach in the management of gastric varices.

BACKGROUND: Bleeding from esophagogastric varices is the major cause of death in patients with portal hypertension. Although esophageal varices can be treated with endoscopic procedures, the treatment for gastric varices is still controversial. The aim of this study was to describe a surgical technique and our preliminary results of hand-assisted laparoscopic Hassab's procedure. METHODS: Between February 2002 and May 2005, we performed 7 cases of gastric varices with this type of operation. The patients included 4 men and 3 women who ranged in age from 23 to 74 years (underlying liver disease: 5 case of liver cirrhosis, 1 case of polycystic disease, 1 case of extrahepatic portal vein obstruction). After splenctomy was performed, we devascularized the vessels of the upper stomach and the esophagus 5 cm away from the esophago-cardia junction. RESULTS: The operative time ranged from 132 to 290 minutes. Intraoperative blood loss was estimated to be from 50 ml to 475 ml. The weight of removed spleen ranged from 110 g to 800 g. During the follow-up period, all gastric varices disappeared and no bleeding from varicose veins was observed. All patients had hypersplenism with thrombocytopenia before surgery (mean: 11.1+/-7.4x10(4)/ml), which was improved postoperatively (mean: 30.8+/-19.0x10(4)/ml). This data were statistically significant (P=0.033). One patient died of aspiration pneumonia related to postoperative pyloric stricture. CONCLUSIONS: Although there is no agreement concerning the best treatment of gastric varices, the hand-assisted laparoscopic Hassab's operation is a safe, moderately invasive method, and its outcome appears to be equal to that of other open procedures.

Adult↗
PubMed2006

National Center for Biomedical Ontology: advancing biomedicine through structured organization of scientific knowledge.

The National Center for Biomedical Ontology is a consortium that comprises leading informaticians, biologists, clinicians, and ontologists, funded by the National Institutes of Health (NIH) Roadmap, to develop innovative technology and methods that allow scientists to record, manage, and disseminate biomedical information and knowledge in machine-processable form. The goals of the Center are (1) to help unify the divergent and isolated efforts in ontology development by promoting high quality open-source, standards-based tools to create, manage, and use ontologies, (2) to create new software tools so that scientists can use ontologies to annotate and analyze biomedical data, (3) to provide a national resource for the ongoing evaluation, integration, and evolution of biomedical ontologies and associated tools and theories in the context of driving biomedical projects (DBPs), and (4) to disseminate the tools and resources of the Center and to identify, evaluate, and communicate best practices of ontology development to the biomedical community. Through the research activities within the Center, collaborations with the DBPs, and interactions with the biomedical community, our goal is to help scientists to work more effectively in the e-science paradigm, enhancing experiment design, experiment execution, data analysis, information synthesis, hypothesis generation and testing, and understand human disease.

Biomedical Research↗
PubMed2006

Development of FuGO: an ontology for functional genomics investigations.

The development of the Functional Genomics Investigation Ontology (FuGO) is a collaborative, international effort that will provide a resource for annotating functional genomics investigations, including the study design, protocols and instrumentation used, the data generated and the types of analysis performed on the data. FuGO will contain both terms that are universal to all functional genomics investigations and those that are domain specific. In this way, the ontology will serve as the "semantic glue" to provide a common understanding of data from across these disparate data sources. In addition, FuGO will reference out to existing mature ontologies to avoid the need to duplicate these resources, and will do so in such a way as to enable their ease of use in annotation. This project is in the early stages of development; the paper will describe efforts to initiate the project, the scope and organization of the project, the work accomplished to date, and the challenges encountered, as well as future plans.

Biomedical Research↗
PubMed2006

HL7 RIM: an incoherent standard.

The Health Level 7 Reference Information Model (HL7 RIM) is lauded by its authors as 'the foundation of healthcare interoperability'. Yet even after some 10 years of development work, the RIM is still subject to a variety of logical and ontological flaws, which has placed severe obstacles in the way of those who are called upon to develop implementations. We offer evidence that these obstacles are insurmountable and that the time has come to abandon an unworkable paradigm.

Computational Biology↗
PubMed2006

Referent tracking: the problem of negative findings.

The paradigm of referent tracking is based on a realist presupposition which rejects so-called negative entities (congenital absent nipple, and the like) as spurious. How, then, can a referent tracking-based Electronic Health Record deal with what are standardly called 'negative findings'? To answer this question we carried out an analysis of some 748 sentences drawn from patient charts and containing some form of negation. Our analysis shows that to deal with these sentences we need to introduce a new ontological relationship between a particular and a universal, which holds when no instance of the universal has a specific qualified ontological relation with the particular. This relation is found to be able to accommodate nearly all occurrences of negative findings in the examined sample, in ways which involve no reference to negative entities.

Forms and Records Control↗
PubMed2005

Bridging the gap between medical and bioinformatics: an ontological case study in colon carcinoma.

Ontological principles are needed in order to bridge the gap between medical and biological information in a robust and computable fashion. This is essential in order to draw inferences across the levels of granularity which span medicine and biology, an example of which include the understanding of the roles of tumor markers in the development and progress of carcinoma. Such information integration is also important for the integration of genomics information with the information contained in the electronic patient records in such a way that real time conclusions can be drawn. In this paper, we describe a large multi-granular datasource built by using ontological principles and focusing on the case of colon carcinoma.

Colonic Neoplasms↗
PubMed2005

From concepts to clinical reality: an essay on the benchmarking of biomedical terminologies.

It is only by fixing on agreed meanings of terms in biomedical terminologies that we will be in a position to achieve that accumulation and integration of knowledge that is indispensable to progress at the frontiers of biomedicine. Standardly, the goal of fixing meanings is seen as being realized through the alignment of terms on what are called 'concepts.' Part I addresses three versions of the concept-based approach--by Cimino, by Wüster, and by Campbell and associates--and surveys some of the problems to which they give rise, all of which have to do with a failure to anchor the terms in terminologies to corresponding referents in reality. Part II outlines a new, realist solution to this anchorage problem, which sees terminology construction as being motivated by the goal of alignment not on concepts but on the universals (kinds, types) in reality and thereby also on the corresponding instances (individuals, tokens). We outline the realist approach and show how on its basis we can provide a benchmark of correctness for terminologies which will at the same time allow a new type of integration of terminologies and electronic health records. We conclude by outlining ways in which the framework thus defined might be exploited for purposes of diagnostic decision-support.

Animals↗
PubMed2005

Towards new information resources for public health--from WordNet to MedicalWordNet.

In the last two decades, WordNet has evolved as the most comprehensive computational lexicon of general English. In this article, we discuss its potential for supporting the creation of an entirely new kind of information resource for public health, viz. MedicalWordNet. This resource is not to be conceived merely as a lexical extension of the original WordNet to medical terminology; indeed, there is already a considerable degree of overlap between WordNet and the vocabulary of medicine. Instead, we propose a new type of repository, consisting of three large collections of (1) medically relevant word forms, structured along the lines of the existing Princeton WordNet; (2) medically validated propositions, referred to here as medical facts, which will constitute what we shall call MedicalFactNet; and (3) propositions reflecting laypersons' medical beliefs, which will constitute what we shall call the MedicalBeliefNet. We introduce a methodology for setting up the MedicalWordNet. We then turn to the discussion of research challenges that have to be met to build this new type of information resource. We build a database of sentences relevant to the medical domain. The sentences are generated from WordNet via its relations as well as from medical statements broken down into elementary propositions. Two subcorpora of sentences are distinguished, MedicalBeliefNet and MedicalFactNet. The former is rated for assent by laypersons; the latter for correctness by medical experts. The sentence corpora will be valuable for a variety of applications in information retrieval as well as in research in linguistics and psychology with respect to the study of expert and non-expert beliefs and their linguistic expressions. Our work has to meet several considerable challenges. These include accounting for the distinction between medical experts and laypersons, the social issues of expert-layperson communication in different media, the linguistic aspects of encoding medical knowledge, and the reliability, volume, and emergence of medical knowledge. The work described here has been tested in a small pilot experiment and awaits large-scale implementation.

Computational Biology↗
PubMed2005

Strategies for referent tracking in electronic health records.

The goal of referent tracking is to create an ever-growing pool of data relating to the entities existing in concrete spatiotemporal reality. In the context of Electronic Healthcare Records (EHRs) the relevant concrete entities are not only particular patients but also their parts, diseases, therapies, lesions, and so forth, insofar as these are salient to diagnosis and treatment. Within a referent tracking system, all such entities are referred to directly and explicitly, something which cannot be achieved when familiar concept-based systems are used in what is called "clinical coding." In this paper, we describe the components of a referent tracking system in an informal way and we outline the procedures that would have to be followed by healthcare personnel in using such a system. We argue that the referent tracking paradigm can be introduced with only minor--though nevertheless ontologically important--technical changes to existing EHR infrastructures, but that it will require a radically different mindset on the part of those involved in clinical coding and terminology development from that which has prevailed hitherto.

Computational Biology↗
PubMed2005

Formal ontology for natural language processing and the integration of biomedical databases.

The central hypothesis underlying this communication is that the methodology and conceptual rigor of a philosophically inspired formal ontology can bring significant benefits in the development and maintenance of application ontologies [A. Flett, M. Dos Santos, W. Ceusters, Some Ontology Engineering Procedures and their Supporting Technologies, EKAW2002, 2003]. This hypothesis has been tested in the collaboration between Language and Computing (L&C), a company specializing in software for supporting natural language processing especially in the medical field, and the Institute for Formal Ontology and Medical Information Science (IFOMIS), an academic research institution concerned with the theoretical foundations of ontology. In the course of this collaboration L&C's ontology, LinKBase, which is designed to integrate and support reasoning across a plurality of external databases, has been subjected to a thorough auditing on the basis of the principles underlying IFOMIS's Basic Formal Ontology (BFO) [B. Smith, Basic Formal Ontology, 2002. http://ontology.buffalo.edu/bfo]. The goal is to transform a large terminology-based ontology into one with the ability to support reasoning applications. Our general procedure has been the implementation of a meta-ontological definition space in which the definitions of all the concepts and relations in LinKBase are standardized in the framework of first-order logic. In this paper we describe how this principles-based standardization has led to a greater degree of internal coherence of the LinKBase structure, and how it has facilitated the construction of mappings between external databases using LinKBase as translation hub. We argue that the collaboration here described represents a new phase in the quest to solve the so-called "Tower of Babel" problem of ontology integration [F. Montayne, J. Flanagan, Formal Ontology: The Foundation for Natural Language Processing, 2003. http://www.landcglobal.com/].

Artificial Intelligence↗
PubMed2005

Relations in biomedical ontologies.

To enhance the treatment of relations in biomedical ontologies we advance a methodology for providing consistent and unambiguous formal definitions of the relational expressions used in such ontologies in a way designed to assist developers and users in avoiding errors in coding and annotation. The resulting Relation Ontology can promote interoperability of ontologies and support new types of automated reasoning about the spatial and temporal dimensions of biological and medical phenomena.

Biomedical Research↗
PubMed2005

Functional anatomy: a taxonomic proposal.

It is argued that medical science requires a classificatory system that (a) puts functions in the taxonomic center and (b) does justice ontologically to the difference between the processes which are the realizations of functions and the objects which are their bearers. We propose formulae for constructing such a system and describe some of its benefits. The arguments are general enough to be of interest to all the life sciences.

Anatomy↗
PubMed2005

Tracking referents in electronic health records.

Electronic Health Records (EHRs) are organized around two kinds of statements: those reporting observations made, and those reporting acts performed. In neither case does the record involve any direct reference to what such statements are actually about. They record not: what is happening on the side of the patient, but rather: what is said about what is happening. While the need for a unique patient identifier is generally recognized, we argue that we should now move to an EHR regime in which all clinically salient particulars - from the concrete disorder on the side of the patient and the body parts in which it occurs to the concrete treatments given - should be uniquely identified. This will allow us to achieve interoperability among different systems of records at the level where it really matters: in regard to what is happening in the real world. It will also allow us to keep track of particular disorders and of the effects of particular treatments in a precise and unambiguous way.

Electronic Health Records↗
PubMed2005

An ontology for carcinoma classification for clinical bioinformatics.

There are a plenty of existing classifications and staging schemes for carcinomas, one of the most frequently used being the TNM classification. Such classifications involve entities which exist at various anatomical levels of granularity and in order to apply such classifications to the Electronic Health Care Records, one needs to build ontologies which are not only based on the formal principles but also take into consideration the diversity of the domains which are involved in clinical bioinformatics. Here we outline a formal theory for addressing these issues in a way that inferences drawn upon the ontologies would be helpful in interpreting and inferring on the entities which exist at different anatomical levels of granularity. Our case study is on the colon carcinoma, one of the commonest carcinomas prevalent within the European population.

Computational Biology↗
PubMed2005

Wüsteria.

The last two decades have seen considerable efforts directed towards making electronic health records interoperable through improvements in medical ontologies, terminologies and coding systems. Unfortunately, these efforts have been hampered by a number of influential ideas inherited from the work of Eugen Wüster, the father of terminology standardization and the founder of ISO TC 37. We here survey Wüster's ideas - which see terminology work as being focused on the classification of concepts in people's minds - and we argue that they serve still as the basis for a series of influential confusions. We argue further that an ontology based unambiguously, not on concepts, but on the classification of entities in reality can, by removing these confusions, make a vital contribution to ensuring the interoperability of coding systems and healthcare records in the future.

Computer Systems↗
PubMed2005

The Significance of SNODENT.

SNODENT is a dental diagnostic vocabulary incompletely integrated in SNOMED-CT. Nevertheless, SNODENT could become the de facto standard for dental diagnostic coding. SNODENT's manageable size, the fact that it is administratively self-contained, and relates to a well-understood domain provides valuable opportunities to formulate and test, in controlled experiments, a series of hypothesis concerning diagnostic systems. Of particular interest are questions related to establishing appropriate quality assurance methods for its optimal level of detail in content, its ontological structure, its construction and maintenance. This paper builds on previous-software-based methodologies designed to assess the quality of SNOMED-CT. When applied to SNODENT several deficiencies were uncovered. 9.52% of SNODENT terms point to concepts in SNOMED-CT that have some problem. 18.53% of SNODENT terms point to SNOMED-CT concepts do not have, in SNOMED, the term used by SNODENT. Other findings include the absence of a clear specification of the exact relationship between a term and a termcode in SNODENT and the improper assignment of the same termcode to terms with significantly different meanings. An analysis of the way in which SNODENT is structurally integrated into SNOMED resulted in the generation of 1081 new termcodes reflecting entities not present in the SNOMED tables but required by SNOMED's own description logic based classification principles. Our results show that SNODENT requires considerable enhancements in content, quality of coding, quality of ontological structure and the manner in which it is integrated and aligned with SNOMED. We believe that methods for the analysis of the quality of diagnostic coding systems must be developed and employed if such systems are to be used effectively in both clinical practice and clinical research.

Humans↗