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113 records · Page 7Linked to original sources

Polygenic risk scores associate with asthma phenotypes and proteomic analyses implicate IL1R1 in two family-based studies.

Despite its high prevalence and the discovery of hundreds of genetic associations, the genetic determinants and heterogeneous manifestations of asthma remain incompletely understood. Incorporating polygenic risk scores (PRS) into asthma research offers a powerful approach to quantify inherited susceptibility, refine risk profiles, and advance mechanistic understanding of disease development. For this study, we leveraged whole-genome sequencing (WGS) data from two family-based cohorts of childhood asthma - the Genetics of Asthma in Costa Rica Study (GACRS) and the Childhood Asthma Management Program (CAMP) - to examine the transmission profiles of externally derived asthma PRS and their associations with clinical phenotypes in children with asthma. To further elucidate molecular mechanisms, we integrated large-scale external genome-wide association study (GWAS) summary statistics and genetic prediction models of protein abundance in a two-step proteome-wide association study (PWAS) of asthma. Our findings provide robust evidence supporting the validity of externally derived asthma PRS (asthma PRS association p-value p = 10-24 [GACRS and CAMP trios combined] for the Global Biobank Meta-analysis Initiative [GBMI]) and reveal consistent associations with spirometry measures and atopy markers across both studies, as 13 of 21 traits (62%) were significantly associated with the GBMI-PRS in the meta-analysis after multiple-testing correction. Moreover, the results of the integrative proteomic analysis implicate IL-1 signaling in the etiology of asthma, reinforcing the candidacy of IL1R1 antagonists for drug repurposing.

Journal Article↗

Videodisc technology trends in academic health sciences libraries.

This paper describes a national survey designed to determine trends in videodisc use, development, and production in academic health sciences libraries throughout North America. In the winter of 1989, 131 four-page survey instruments went to library directors in academic health sciences institutions. Of these, 63 (48%) survey forms were completed and returned. Survey results indicated a wide range of videodisc technology use and development and a growing production of both Level I and Level III videodiscs within academic health sciences libraries. Videodisc technology delivery for student use was centralized within many medical libraries, although videodisc development was not centralized within academic health sciences centers. Most libraries (67%) have purchased videodisc technology and over one fourth (28%) are repurposing a videodisc within their institution. Over one fourth (25%) of respondents have already begun to develop their own videodisc software, and almost one fourth (24%) of respondents have a Level III videodisc in production. Clearly the use and development of videodisc technology for biomedical instruction is expanding within academic health sciences libraries.

Libraries, Medical↗

The role of object representation in the design of the intelligent radiology workstation.

The paper describes the design of the Intelligent Radiology Workstation (IRW) that is intended to handle heterogeneous radiologic data (text, image, video) and radiologic knowledge in such a way that it is easy to store, access, use, and repurpose. An object-based structure is used to combine the relational database, hybrid knowledge base, and hypermedia within a common framework. Functions such as data entry and retrieval, browsing, and intelligent processing of data are available in the single environment. IRW open architecture allows radiologic digital resources to be used for clinical practice, diagnosis support, education, and research.

Artificial Intelligence↗

Techniques and tools for digitizing analog video for use in CD-ROM-based health education programs.

This presentation is designed to familiarize medical educators with the techniques and tools for converting analog video into digital video for use in CD-ROM based multimedia programs. Recent advances in computer processing, CD-ROM storage, and digital video enable personal computers to be used for creating and presenting digital adaptations of videodisc and videotape based instructional programs. These digital multimedia programs are being used for training health care providers, for patient and family health education, and for health information kiosks. Repurposing existing analog video is a cost effective approach for creating high quality multimedia instructional programs. The presentation will cover the process of digitally capturing and manipulating video segments for playback from CD-ROM. Procedures from initial digital capture to transcoding will be discussed and illustrated. Strengths and limitations of alternative procedures will be discussed. Two CD-ROM development projects, the digital conversion of The Anatomy Project videodiscs and the creation of a patient education program on spinal cord injury, will be used as examples of techniques.

Analog-Digital Conversion↗

MEME-II supports the cooperative management of terminology.

Health care enterprises need enterprise-wide terminologies to compare, reuse and repurpose health care descriptions. But once they are created, these terminologies need to be maintained and enhanced to sustain their utility and that of the descriptions encoded with them. MEME II (Metathesaurus Enhancement and Maintenance Environment, Version II) supports the required activities and enables enterprises to leverage their investment in terminology and descriptions by permitting remote-extra-enterprise-enhancements to terminology to be incorporated locally, and local-intra-enterprise-enhancements to be shared remotely. MEME II represents all changes to terminologies as data, or "actions," that can be interpreted by an "action engine." These actions, or messages, represent semantic "units of work" that can be interpreted by other copies of MEME II. The exchange of update messages increases the likelihood that the comparability of terminology-based health care descriptions can be sustained.

Information Systems↗