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Combinatorial approaches to finding subtle signals in DNA sequences.

Signal finding (pattern discovery in unaligned DNA sequences) is a fundamental problem in both computer science and molecular biology with important applications in locating regulatory sites and drug target identification. Despite many studies, this problem is far from being resolved: most signals in DNA sequences are so complicated that we don't yet have good models or reliable algorithms for their recognition. We complement existing statistical and machine learning approaches to this problem by a combinatorial approach that proved to be successful in identifying very subtle signals.

Algorithms↗

Ontology acquisition from on-line knowledge sources.

Electronic knowledge representation is becoming more and more pervasive both in the form of formal ontologies and less formal reference vocabularies, such as UMLS. The developers of clinical knowledge bases need to reuse these resources. Such reuse requires a new generation of tools for ontology development and management. Medical experts with little or no computer science experience need tools that will enable them to develop knowledge bases and provide capabilities for directly importing knowledge not only from formal knowledge bases but also from reference terminologies. The portions of knowledge bases that are imported from disparate resources then need to be merged or aligned to one another in order to link corresponding terms, to remove redundancies, to resolve logical conflicts. We discuss the requirements for ontology-management tools that will enable interoperability of disparate knowledge sources. Our group is developing a suite of tools for knowledge-base management based on the Protégé-2000 environment for ontology development and knowledge acquisition. We describe one such tool in detail here: an application for incorporating information from remote knowledge sources such as UMLS into a Protégé knowledge base.

Artificial Intelligence↗

The development of a model curriculum for applied health informatics.

Applied Health Informaticians (AHIs) are professionals that deploy information technologies in support of health system processes. AHIs require both a well-developed knowledge base that encompasses the health system, computer science, and health information systems-related topics (what is known as the "Body of Knowledge"), as well as a set of intellectual and procedural skills (what we call the "Body of Skills") and preparatory experiences. The availability of skilled and knowledgeable AHIs has become a critical issue in today's health system.

Curriculum↗

MedView-design and adoption of an interactive system for oral medicine.

MedView is a joint project with participants from oral medicine and computer science. The aim of the project is to build a large database from patient examinations and produce computerized tools to extend, view, and analyze the contents of the database. The contents of the data base is based on a formalization of health-care processes and clinical knowledge in oral medicine harmonized within the network SOMNET. We give an overview of the current status of the MedView project and discuss background and future directions.

Artificial Intelligence↗

Cajal and consciousness. Introduction.

One hundred years after Santiago Ramón Cajal established the bases of modern neuroscience in his masterpiece Textura del sistema nervioso del hombre y de los vertebrados, the question is stated again: What is the status of consciousness today? The responses in this book, by contemporary leading figures of neuroscience, evolution, molecular biology, computer science, and quantum physics, collectively compose a fascinating conceptual landscape. Both the evolutionary emergence of consciousness and its development towards the highest level may be analyzed by a wealth of new theories and hypotheses, including Cajal's prescient ones. Some noticeable gaps remain, however. Celebrating the centennial of Textura is a timely occasion to reassess how close--and how far--our system of the sciences is to explaining consciousness.

Animals↗

Sex-Sorting mammalian sperm: concept to application in animals.

Sperm sexing can be used to produce sexed offspring with 85%-95% accuracy (Amann, 1999; Johnson and Seidel, 1999; Seidel et al 1999a). On September 1, 2000, the sale of sexed bovine sperm commented in the United Kingdom. It will be interesting to see to what degree sexed sperm penetrate the semen market. This verified sexed product sets the stage for commercialization around the world in major animal producing countries. This commercialization of sexed sperm occurred nearly 20 years after technology for accurately determining the proportion of X and Y sperm in semen was first developed at Lawrence Livermore National Laboratory. It came about due to advances in both the hardware and the software componenets of computer science, biophysic, cell biology and applied reproductive physiology plus efforts of innovative scientist. Many individuals have contributed in making semen sexing in animals a commercial reality since the research team of Bart Gledhill, Dan Pinkel, Duane Garner, Susan Lake, and Larry Johnson began following up on the first flow cytometric studies on human sperm by Friedrich Otto, Wolfgang Göhde, and Marvin Meistrich. There was also major input from personnel at USDA Beltsville Agricultural Research Center as well as scientists at Cambridge University, Atlantic Breeders Cooperative, Colorado State University and XY Inc. These include Chuck Allen, Rupert Amann, David Cran, Patrick Doyle, Mike Evans, Lisa Herickhoff, Mervyn Jacobson, Kehuan Lu, Chris Polge, Wim Rens, John Schenk, George Seidel, Glenn Welch, and many others.

Animals↗

[Use of the technology of the genetic chip to study of the nitric oxide synthase].

INTRODUCTION: The end of our century has been characterized by a quick scientific and technological growth. Among other, the brain, the human genome project and the computer science, they are some of the numerous fields that characterize this revolution. DEVELOPMENT: In the following work, we will show as these three fields of the knowledge have converged in a new area of the science denominated technology of the gene chip or microarrays. Although this methodology would allow the study of thousands of genes in one chip, in the following work we will center ourselves in its potential application for the study of the enzyme nitric oxide synthase (NOS), which is responsible for the production of the nitric oxide (NO). The technical base of this system is to be able to synthesize chains of DNA in a chip, which will be hybridized with the sample of interest that in turn are usually marked with fluorescent nucleotides. The results are analyzed using a sophisticated image analysis system. The relative estimate of the quantity of existent messenger in each sample will come determined by the intensity of the fluorescence, and for its comparison with internal controls. The discovery of at least three genes that are coded for NOS, as well as that of numerous allelic variations will allow a more exhaustive study of this molecule, which has been recognized by their vital importance. CONCLUSION: In this review we will put in perspective the utility of this technology in the genetic study of the enzyme NOS, and its utility for the understanding of the pathophysiology of some neurological illnesses.

Brain↗

Medical informatics: searching for underlying components.

OBJECTIVE: To discuss unifying principles that can provide a theory for the diverse aspects of work in medical informatics. If medical informatics is to have academic credibility, it must articulate a clear theory that is distinct from that of computer science or of other related areas of study. RESULTS: The notions of reusable domain antologies and problem-solving methods provide the foundation for current work on second-generation knowledge-based systems. These abstractions are also attractive for defining the core contributions of basic research in informatics. We can understand many central activities within informatics in terms defining, refining, applying, and evaluating domain ontologies and problem-solving methods. CONCLUSION: Construing work in medical informatics in terms of actions involving ontologies and problem-solving methods may move us closer to a theoretical basis for our field.

Information Science↗

[Qualitative evaluation of the blood collection process in Catalonia].

Blood donation is indispensable for quality health service provision. The stagnation of the number of donations in Catalonia prompted up an external evaluation of the system of blood collection that could orient the future policies. An evaluation of blood-donor services in Catalonia was designed adopting a qualitative methodology. The evaluation design included the use of a variety of techniques namely participant observation, individual interviews, group interviews and documentary techniques. The field work was carried out in all blood-donation sectors of Catalonia from the 23th November to the 4th December, 1998. Using Atlas/ti, a computer science tool for the qualitative analysis of textual data, the information analysis partially followed the prescriptions of "grounded theory" and of some modalities of thematic content analysis. The results show the basic characteristics and deficiencies of the process and its organization, describing their strong and weak points. The findings also detail arguments on blood donation that the agents implied in the process, donors an professionals, use. We also report what reasons the blood-donor service managers/providers gave for donating blood, and what perceptions they had of blood donors.

Blood Specimen Collection↗

How the research-based industry approaches vaccine development and establishes priorities.

Over the past two decades, progress in immunology, molecular biology and genomics as well as some technological breakthroughs in computer science has opened the way to the development of prophylactic vaccines against most acute infectious diseases. Therapeutic vaccines against chronic infections, allergic conditions, auto-immune diseases and cancer have also come into the realm of possibility. It is estimated that wordwide there are about 400 vaccine projects in R&D laboratories of academic institutions, research institutes and vaccine manufacturers. Most of these projects will not yield a licensed vaccine for routine or even targeted immunisation. This is mostly not because of scientific barriers but due to financial and politicoeconomic obstades that make their development feasible only by the handful of major research-based vaccine manufacturers that nowadays all form part of large global pharmaceutical corporations. Such enterprises have to be profitable to survive and priority setting, when it comes to R&D projects, has to take into account potential return on all investments, particularly as it currently costs between 200 and 500 million US dollars to bring a new vaccine from the concept stage to market. Factors that influence the decision to embark upon an R&D project on a new vaccine include the medical need for the vaccine, gauged by the global burden of the targeted disease, potential and probable market size - judged on volume (number of doses required) and value (total sales) -, probability of success and expertise of the company in the field (both R&D and marketing) as well as the likelihood of competitors taking a large part of the market. Moral imperatives such as the urgent need for vaccines against HIV/AIDS, malaria and an improved vaccine against tuberculosis to save the several millions of lives claimed each year by these diseases also play a role. However, for such investments to be sustainable other sources of financing than the commercial market will be required.

Cost of Illness↗

[Informatics of dental medicine].

Dental informatics is a newly developed discinpline which is integrated by modern stomatology, computer sciences and informatics. In this paper, the concept, importance, basic principle and contents were discussed in details. The relationship among dental informatics and related sciences, the formation and history of dental informatics were also described in this paper.

Medical Informatics↗

[Pharmacogenetics--pathway to individualized antihypertensive pharmacotherapy].

The variations in response to pharmacotherapy can in part be explained by genetic factors. Pharmacogenetics, a term coined in the 1950's, describes these relationships. Great technological advances in molecular biology and computational sciences, crowned by the sequencing of the human genome, have brought forth the current interest in pharmacogenetics. Continued technological developments may lead to the understanding of the molecular mechanisms behind complex diseases like cardiovascular disease, and holds the promise of individualized pharmacotherapy. The article gives a background to the field, with emphasis on antihypertensive therapy, and prospects for the future.

Antihypertensive Agents↗

Towards a theory of meaning in biology: a proposal for an operative definition.

Information is a concept developed inside the context of computational and computer sciences. Entropy is a concept developed inside physics context. The best concept in biology is that of "meaning" which is quite impossible to be measured as stated by some examples which are reported. A suggestion to develop a discussion in order to obtain an integration of these concepts inside the general problems of evolutionary biology is here reported to the attention of researchers.

Animals↗

Imported malaria infections diagnosed at the Malaria Referral Laboratory in Riyadh, Saudi Arabia.

OBJECTIVE: To determine epidemiological characteristics of imported malaria infections in Riyadh, Kingdom of Saudi Arabia, based on retrospective analysis of laboratory records within the Central Laboratory. METHODS: Records of the Malaria Referral Laboratory in Riyadh, Kingdom of Saudi Arabia (KSA) were reviewed for the past 6 years: 1416-1421 Hejri inclusive (1996-2001 Gregorian). The dates of blood films were converted to Gregorian calendar in addition to the Hejri dates already used in the records. Data collected included the date of film, age, sex, nationality and parasitological findings in the film. All data was entered and analyzed using statistical package for social sciences computer software. RESULTS: The annual mean number of positive slides was 212 +/- 78. Positive slides were reported at the rate of 18 /100,000 among 137,402 potential blood donors screened during this period. The overall slide positivity was 12.9% among suspected cases referred from hospitals and 9.5% among those referred from health centers and private clinics. Most positive slides were from Saudis (36.6%), Sudanese (30.9%), Indians (13.9%), Pakistanis (8%) and Yemenis (5%). The type of malaria infection varied in the different nationalities, reflecting the pattern of endemicity at the source of infection. Positive cases show a marked seasonality in Saudis, reflection seasonal transmission of the disease in the endemic areas. CONCLUSION: Although there is no active malaria transmission in Riyadh KSA, imported infections still poses a significant health problem. A high index of suspicion should be maintained in those with suggestive travel history. Efforts to reduce the incidence of transfusion malaria should aim at formulation of appropriate policies for selection of blood donors and for screening of blood.

Humans↗

Using text generation to access clinical data in a variety of contexts.

MedView is a joint project with participants from oral medicine and computer science. The aim of the project is to build a large database from patient examinations and produce computerised tools to access data in various ways. One way to access data is to read case descriptions generated from stored cases. We give a description of how documents are generated from data and how these are used in a variety of contexts to supply useful information.

Dental Records↗

Stability and convergent validity of the Physical Activity Scale for the Elderly (PASE).

AIM: The purpose of this study was to assess the stability and convergent validity of the Physical Activity Scale for the Elderly (PASE) among rural, community dwelling elderly persons using Computer Science and Applications, Inc. Actigraph Monitors (Actigraph) as the direct criterion measure. METHODS EXPERIMENTAL DESIGN: a correlational design was employed. SETTING: rural community in the United States. PARTICIPANTS: 56 subjects (age=75.7+/-7.9 years) who were living independently and volunteered to participate in the study. MEASURES: subjects wore an Actigraph monitor during all waking hours for 7 consecutive days. At the conclusion of the 7 days, each subject met with a trained interviewer to complete the PASE questionnaire. Three days later the subjects met with the same interviewer to complete the PASE a 2nd time recalling their physical activity for the same 7-day period. RESULTS: Actigraph data indicated that subjects averaged 168.1+/-76.3 counts x minute(-1) during the 7-day period. A high intraclass correlation coefficient (r=0.91) was calculated between the 1st interview total PASE score (115.97+/-59.91) and the 2nd interview total PASE score (115.71+/-50.97). In addition, there was a statistically significant Spearman correlation coefficient of 0.43 (p<0.01) between Actigraph mean counts x minute(-1) and 1st interview total PASE scores. CONCLUSION: In this rural elderly sample, the PASE was a stable instrument with validity indices similar to those previously reported in younger, more active, populations.

Aged↗

Implications of systems dynamic models and control theory for environmental approaches to the prevention of alcohol- and other drug use-related problems.

The approach described in this article is premised on the idea that drug and alcohol use-related problems are heterogeneously distributed with respect to population and geography, and therefore, are essentially local problems. More specifically, it is argued that viewing a local community as an interacting set of systems that support or buffer the occurrence of specific substance misuse outcomes, opens up to research two important prospects. The first of these involves creating adequate systems models that can capture the primary community structures and relationships that support public health problems such as alcohol and drug misuse and related outcomes. The second entails rationally testing control strategies that have the potential to moderate or reduce these problems. Understanding and controlling complex dynamic systems models nowadays pervades all scientific disciplines, and it is to research in areas such as biology, ecology, engineering, computer sciences, and mathematics that researchers in the field of addictions must turn to in order to better study the complexity that confronts them as they try to understand and prevent problems resulting from alcohol and drug use and misuse. Here we set out what such a systems-based understanding of alcohol- and drug use-related problems will require and discuss its implications for public policy and prevention programming.

Humans↗

[An informatics service for the endoscopy service].

The authors describe an original program, created by the collaboration between endoscopists and computer science agent. They illustrate the main features of the program, called "Endo", and its application.

Endoscopy↗