NDLI: A Medical Case-Based Reasoning Component for the Rare Metabolic Diseases Database Ramedis

Content Provider	IEEE Xplore Digital Library
Author	Topel, T. Neumann, J. Hofestadt, R.
Copyright Year	2007
Description	Author affiliation: Bielefeld Univ., Bielefeld (Topel, T.; Neumann, J.; Hofestadt, R.)
Abstract	In the area of diagnosis and therapy of inborn metabolic diseases, the investigation of genetic and clinical data has special importance. These data are the basis of further research and are available in large amounts in the form of case reports within relevant scientific publications and several mutation or disease-oriented databases. However, a successful evaluation of these information is difficult because of the large heterogeneity regarding availability, representation and comparability. Our approach supports clinical researchers of inborn metabolic defects by collecting relevant information of mutations and its corresponding phenotypes in the rare metabolic diseases database RAMEDIS and their analysis by using a medical case-based reasoning component. Today, on the basis of already over 750 stored case reports, the retrieval of similar cases is possible. The output of the CBR tool is a weighted list of relevant patient cases with according diagnosis and therapy information.
Starting Page	7
Ending Page	11
File Size	236921
Page Count	5
File Format	PDF
ISBN	0769529054
ISSN	10637125
DOI	10.1109/CBMS.2007.9
Language	English
Publisher	Institute of Electrical and Electronics Engineers, Inc. (IEEE)
Publisher Date	2007-06-20
Publisher Place	Slovenia
Access Restriction	Subscribed
Rights Holder	Institute of Electrical and Electronics Engineers, Inc. (IEEE)
Subject Keyword	Diseases Databases Medical diagnostic imaging Medical treatment Genetic mutations Biochemistry Vocabulary Laboratories Bioinformatics Information analysis
Content Type	Text
Resource Type	Article
Subject	Radiology, Nuclear Medicine and Imaging Computer Science Applications

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
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7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

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