Computer-assisted initial diagnosis of rare diseases

PeerJ

Volumn 2016, Issue 7, 2016, Pages

  Alves, Rui ^a,b   Piñol, Marc ^a   Vilaplana, Jordi ^a,c   Teixidó, Ivan ^a,c   Cruz, Joaquim ^a,b   Comas, Jorge ^a,b,c   Vilaprinyo, Ester ^a,b   Sorribas, Albert ^a,b   Solsona, Francesc ^a,c  

^a UNIVERSITY OF LLEIDA   (Spain)

^b UNIVERSITY OF LLEIDA   (Spain)

^c INSPIRES   (Spain)

Author keywords

Computer assisted diagnosis; EHealth; Family doctors; Rare diseases; User friendly webserver

Indexed keywords

ALGORITHM; ARTICLE; BETA THALASSEMIA; BIOINFORMATICS; CANAVAN DISEASE; CLINICAL FEATURE; COMPARATIVE STUDY; COMPUTER ASSISTED DIAGNOSIS; COMPUTER INTERFACE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DOWN SYNDROME; EXPERT SYSTEM; FABRY DISEASE; HUMAN; INTERNET; MAJOR CLINICAL STUDY; PHENOTYPE; QUALITY CONTROL; RARE DISEASE; RENOVASCULAR HYPERTENSION; RETROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY; TURNER SYNDROME; UNCOMBABLE HAIR SYNDROME; WILLIAMS BEUREN SYNDROME; YUNIS VARON SYNDROME; ZELLWEGER LIKE SYNDROME WITHOUT PEROXISOMAL ANOMALIES;

EID: 84981485972     PISSN: None     EISSN: 21678359     Source Type: Journal    
DOI: 10.7717/peerj.2211     Document Type: Article

References (42)

1. Avery AJ, Rodgers S, Cantrill JA, Armstrong S, Cresswell K, Eden M, Elliott RA, Howard R, Kendrick D, Morris CJ, Prescott RJ, Swanwick G, Franklin M, Putman K, Boyd M, Sheikh A. 2012. A pharmacist-led information technology intervention for medication errors (PINCER): a multicentre, cluster randomised, controlled trial and cost-effectiveness analysis. Lancet 379:1310-1319 DOI 10.1016/S0140-6736(11)61817-5.
2. Barnett GO, Cimino JJ, Hupp JA, Hoffer EP. 1987. DXplain. An evolving diagnostic decision-support system. JAMA 258:67-74 DOI 10.1001/jama.1987.03400010071030.
3. Black AD, Car J, Pagliari C, Anandan C, Cresswell K, Bokun T, McKinstry B, Procter R, Majeed A, Sheikh A. 2011. The impact of eHealth on the quality and safety of health care: a systematic overview. PLoS Medicine 8:e1000387 DOI 10.1371/journal.pmed.1000387.
4. Bond WF, Schwartz LM, Weaver KR, Levick D, Giuliano M, Graber ML. 2012. Differential diagnosis generators: an evaluation of currently available computer programs. Journal of General Internal Medicine 27:213-219 DOI 10.1007/s11606-011-1804-8.
5. Choquet R, Landais P. 2014. The French national registry for rare diseases: an integrated model from care to epidemiology and research. Orphanet Journal of Rare Diseases 9(Suppl 1): Article O7 DOI 10.1186/1750-1172-9-S1-O7.
6. Daneshvari S, Youssof S, Kroth PJ. 2013. The NIH Office of Rare Diseases Research patient registry Standard: a report from the University of New Mexico's Oculopharyngeal Muscular Dystrophy Patient Registry. AMIA Annual Symposium Proceedings 2013:269-277.
7. Dragusin R, Petcu P, Lioma C, Larsen B, Jørgensen HL, Cox IJ, Hansen LK, Ingwersen P, Winther O. 2013. FindZebra: a search engine for rare diseases. International Journal of Medical Informatics 82:528-538 DOI 10.1016/j.ijmedinf.2013.01.005.
8. Eadie LH, Taylor P, Gibson AP. 2012. Recommendations for research design and reporting in computer-assisted diagnosis to facilitate meta-analysis. Journal of Biomedical Informatics 45:390-397 DOI 10.1016/j.jbi.2011.07.009.
9. EURORDIS Consortium. 2016. About Rare Diseases | www.eurordis.org. Available at http://www.eurordis.org/aboutrare-diseases.
10. Eysenbach G, Powell J, Kuss O, Sa E-R. 2002. Empirical studies assessing the quality of health information for consumers on the world wide web: a systematic review. JAMA 287:2691-2700.
11. Free C, Knight R, Robertson S, Whittaker R, Edwards P, Zhou W, Rodgers A, Cairns J, Kenward MG, Roberts I. 2011. Smoking cessation support delivered via mobile phone text messaging (txt2stop): a single-blind, randomised trial. Lancet 378:49-55 DOI 10.1016/S0140-6736(11)60701-0.
12. Free C, Phillips G, Galli L, Watson L, Felix L, Edwards P, Patel V, Haines A. 2013a. The effectiveness of mobile-health technology-based health behaviour change or disease management interventions for health care consumers: a systematic review. PLoS Medicine 10:e1001362 DOI 10.1371/journal.pmed.1001362.
13. Free C, Phillips G, Watson L, Galli L, Felix L, Edwards P, Patel V, Haines A. 2013b. The effectiveness of mobile-health technologies to improve health care service delivery processes: a systematic review and meta-analysis. PLoS Medicine 10:e1001363 DOI 10.1371/journal.pmed.1001363.
14. Genetic and Rare Diseases (GARD) Information Center. 2016. Office of Rare Diseases Research (ORDR-NCATS) | Supports Rare Disease Research and Information. Available at http://rarediseases.info.nih.gov/.
15. Girdea M, Dumitriu S, Fiume M, Bowdin S, Boycott KM, Chénier S, Chitayat D, Faghfoury H, Meyn MS, Ray PN, So J, Stavropoulos DJ, Brudno M. 2013. PhenoTips: patient phenotyping software for clinical and research use. Human Mutation 34:1057-1065 DOI 10.1002/humu.22347.
16. Greenhalgh T, Swinglehurst D. 2011. Studying technology use as social practice: the untapped potential of ethnography. BMC Medicine 9:45 DOI 10.1186/1741-7015-9-45.
17. Howitt P, Darzi A, Yang G-Z, Ashrafian H, Atun R, Barlow J, Blakemore A, Bull AMJ, Car J, Conteh L, Cooke GS, Ford N, Gregson SAJ, Kerr K, King D, Kulendran M, Malkin RA, Majeed A, Matlin S, Merrifield R, Penfold HA, Reid SD, Smith PC, Stevens MM, Templeton MR, Vincent C, Wilson E. 2012. Technologies for global health. Lancet 380:507-535 DOI 10.1016/S0140-6736(12)61127-1.
18. Huckvale K, Car M, Morrison C, Car J. 2012. Apps for asthma self-management: a systematic assessment of content and tools. BMC Medicine 10:144 DOI 10.1186/1741-7015-10-144.
19. Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GCM, Brown DL, Brudno M, Campbell J, FitzPatrick DR, Eppig JT, Jackson AP, Freson K, Girdea M, Helbig I, Hurst JA, Jähn J, Jackson LG, Kelly AM, Ledbetter DH, Mansour S, Martin CL, Moss C, Mumford A, Ouwehand WH, Park S-M, Riggs ER, Scott RH, Sisodiya S, Van Vooren S, Wapner RJ, Wilkie AO, Wright CF, Vulto-van Silfhout AT, De Leeuw N, De Vries BB, Washingthon NL, Smith CL, Westerfield M, Schofield P, Ruef BJ, Gkoutos GV, Haendel M, Smedley D, Lewis SE, Robinson PN. 2014. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Research 42(Database issue):D966-D974 DOI 10.1093/nar/gkt1026.
20. Köhler S, Schulz MH, Krawitz P, Bauer S, Dölken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN. 2009. Clinical diagnostics in human genetics with semantic similarity searches in ontologies. American Journal of Human Genetics 85:457-464 DOI 10.1016/j.ajhg.2009.09.003.
21. Koutouzov S. 2010. The European research area network-E-Rare. Orphanet Journal of Rare Diseases 5(Suppl 1): Article O15 DOI 10.1186/1750-1172-5-S1-O15.
22. Lavandeira A. 2002. Orphan drugs: legal aspects, current situation. Haemophilia 8:194-198 DOI 10.1046/j.1365-2516.2002.00643.x.
23. Lopes P, Oliveira JL. 2013. An innovative portal for rare genetic diseases research: the semantic Diseasecard. Journal of Biomedical Informatics 46:1108-1115 DOI 10.1016/j.jbi.2013.08.006.
24. Lopman BA, Barnabas RV, Boerma JT, Chawira G, Gaitskell K, Harrop T, Mason P, Donnelly CA, Garnett GP, Nyamukapa C, Gregson S. 2006. Creating and validating an algorithm to measure AIDS mortality in the adult population using verbal autopsy. PLoS Medicine 3:e312 DOI 10.1371/journal.pmed.0030312.
25. Maiella S, Rath A, Angin C, Mousson F, Kremp O. 2013. Orphanet and its consortium: where to find expert-validated information on rare diseases. Revue Neurologique (Paris) 169(Suppl 1):S3-S8.
26. Mazzucato M, Houyez F, Facchin P. 2014. The importance of helplines in National Plans. Orphanet Journal of Rare Diseases 9(Suppl 1): Article O12 DOI 10.1186/1750-1172-9-S1-O12.
27. McKusick V. 2008. Mendelian inheritance in man: a catalog of human genes and genetic disorders-NLM catalog-NCBI. 12th edition. Baltimore: Johns Hopkins University Press.
28. McLean S, Sheikh A, Cresswell K, Nurmatov U, Mukherjee M, Hemmi A, Pagliari C. 2013. The impact of telehealthcare on the quality and safety of care: a systematic overview. PLoS ONE 8:e71238 DOI 10.1371/journal.pone.0071238.
29. Morrison C, Jones M, Jones R, Vuylsteke A. 2013. 'You can't just hit a button': an ethnographic study of strategies to repurpose data from advanced clinical information systems for clinical process improvement. BMC Medicine 11:103 DOI 10.1186/1741-7015-11-103.
30. ORPHANET. 2015. OrphaData. Available at http://www.orphadata.org/cgi-bin/inc/product4.inc.php.
31. Polizzi A, Balsamo A, Bal MO, Taruscio D. 2014. Rare diseases research and practice. Endocrine Development 27:234-256 DOI 10.1159/000363670.
32. Porat S, De Rham M, Giamboni D, Van Mieghem T, Baud D. 2014. Phenotip-a webbased instrument to help diagnosing fetal syndromes antenatally. Orphanet Journal of Rare Diseases 9: Article 204 DOI 10.1186/s13023-014-0204-7.
33. Rath A, Olry A, Dhombres F, Brandt MM, Urbero B, Ayme S. 2012. Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users. Human Mutation 33:803-808 DOI 10.1002/humu.22078.
34. Schieppati A, Henter J-I, Daina E, Aperia A. 2008. Why rare diseases are an important medical and social issue. Lancet 371:2039-2041 DOI 10.1016/S0140-6736(08)60872-7.
35. Sheikh A, Jha A, Cresswell K, Greaves F, Bates DW. 2014. Adoption of electronic health records in UK hospitals: lessons from the USA. Lancet 384:8-9 DOI 10.1016/S0140-6736(14)61099-0.
36. Soyer HP, Hofmann-Wellenhof R, Massone C, Gabler G, Dong H, Ozdemir F, Argen-ziano G. 2005. telederm.org: freely available online consultations in dermatology. PLoS Medicine 2:e87 DOI 10.1371/journal.pmed.0020087.
37. Steele AW, Eisert S, Witter J, Lyons P, Jones MA, Gabow P, Ortiz E. 2005. The effect of automated alerts on provider ordering behavior in an outpatient setting. PLoS Medicine 2:e255 DOI 10.1371/journal.pmed.0020255.
38. Töpel T, Scheible D, Trefz F, Hofestädt R. 2010. RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases. Human Mutation 31:E1081-E1088 DOI 10.1002/humu.21169.
39. Umscheid CA, Hanson CW. 2012. A follow-up report card on computer-assisted diagnosis-the grade: C+. Journal of General Internal Medicine 27:142-144 DOI 10.1007/s11606-011-1944-x.
40. Wang S, Summers RM. 2012. Machine learning and radiology. Medical Image Analysis 16:933-951 DOI 10.1016/j.media.2012.02.005.
41. Winther O, Svenstrup D, Henningsen PP, Kristiásson R, Jørgensen HL. 2014. FindZebra-the search engine for difficult medical cases. Orphanet Journal of Rare Diseases 9(Suppl 1): Article O5 DOI 10.1186/1750-1172-9-S1-O5.
42. Wolfram S. 1999. The MATHEMATICA R book. Version 4. Cambridge University Press.