Literature DB >> 28364276

[Computer-assisted diagnosis of rare diseases].

T Müller1, A Jerrentrup2, J R Schäfer2.   

Abstract

To establish a comprehensive diagnosis is by far the most challenging task in a physician's daily routine. Especially rare diseases place high demands on differential diagnosis, caused by the high number of around 8000 diseases and their clinical variability. No clinician can be aware of all the different entities and memorizing them all is impossible and inefficient. Specific diagnostic decision-supported systems provide better results than standard search engines in this context. The systems FindZebra, Phenomizer, Orphanet, and Isabel are presented here concisely with their advantages and limitations. An outlook is given to social media usage and big data technologies. Due to the high number of initial misdiagnoses and long periods of time until a confirmatory diagnosis is reached, these tools might be promising in practice to improve the diagnosis of rare diseases.

Entities:  

Keywords:  Diagnosis, differential; Diagnostic decision support; Diagnostic errors; Rare diseases; Search engine

Mesh:

Year:  2018        PMID: 28364276     DOI: 10.1007/s00108-017-0218-z

Source DB:  PubMed          Journal:  Internist (Berl)        ISSN: 0020-9554            Impact factor:   0.743


  27 in total

Review 1.  Internet-based information-seeking behaviour amongst doctors and nurses: a short review of the literature.

Authors:  Paula Younger
Journal:  Health Info Libr J       Date:  2010-03

Review 2.  Ethical aspects on rare diseases.

Authors:  Luis A Barrera; Gilberto Cely Galindo
Journal:  Adv Exp Med Biol       Date:  2010       Impact factor: 2.622

3.  The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

Authors:  Peter N Robinson; Sebastian Köhler; Sebastian Bauer; Dominik Seelow; Denise Horn; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2008-10-23       Impact factor: 11.025

4.  [Orphanet and its consortium: where to find expert-validated information on rare diseases].

Authors:  S Maiella; A Rath; C Angin; F Mousson; O Kremp
Journal:  Rev Neurol (Paris)       Date:  2013-02       Impact factor: 2.607

Review 5.  Birt-Hogg-Dubé syndrome: diagnosis and management.

Authors:  Fred H Menko; Maurice A M van Steensel; Sophie Giraud; Lennart Friis-Hansen; Stéphane Richard; Silvana Ungari; Magnus Nordenskjöld; Thomas Vo Hansen; John Solly; Eamonn R Maher
Journal:  Lancet Oncol       Date:  2009-12       Impact factor: 41.316

6.  The art of diagnosis: solving the clinicopathological exercise.

Authors:  D M Eddy; C H Clanton
Journal:  N Engl J Med       Date:  1982-05-27       Impact factor: 91.245

7.  A "Google Image" diagnosis of Madelung's disease.

Authors:  Nicola Mumoli; Josè Vitale; Silvia Sabatini; Carolina Manni; Lorenzo Masi; Valeria Mazzi; Marco Cei; Silvia Giorgetti; Monica Rossi; Mario Comassi; Alberto Camaiti
Journal:  JRSM Open       Date:  2015-03-02

8.  Characteristics of patients contacting a center for undiagnosed and rare diseases.

Authors:  Tobias Mueller; Andreas Jerrentrup; Max Jakob Bauer; Hans Walter Fritsch; Juergen Rolf Schaefer
Journal:  Orphanet J Rare Dis       Date:  2016-06-21       Impact factor: 4.123

Review 9.  Rare disease diagnosis: A review of web search, social media and large-scale data-mining approaches.

Authors:  Dan Svenstrup; Henrik L Jørgensen; Ole Winther
Journal:  Rare Dis       Date:  2015-09-16

10.  Diagnostically relevant facial gestalt information from ordinary photos.

Authors:  Quentin Ferry; Julia Steinberg; Caleb Webber; David R FitzPatrick; Chris P Ponting; Andrew Zisserman; Christoffer Nellåker
Journal:  Elife       Date:  2014-06-24       Impact factor: 8.140

View more
  7 in total

1.  Orthodontically Relevant Manifestations in People with Rare Diseases.

Authors:  Marcel Hanisch; Lale Hanisch; Johannes Kleinheinz; Gholamreza Danesh; Korbinian Benz; Joachim Jackowski
Journal:  Med Princ Pract       Date:  2019-02-04       Impact factor: 1.927

Review 2.  Clinical Decision Support Systems.

Authors:  Andreas Teufel; Harald Binder
Journal:  Visc Med       Date:  2021-09-28

3.  Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study.

Authors:  Simon Ronicke; Martin C Hirsch; Ewelina Türk; Katharina Larionov; Daphne Tientcheu; Annette D Wagner
Journal:  Orphanet J Rare Dis       Date:  2019-03-21       Impact factor: 4.123

4.  Rare disease curative care expenditure-financing scheme-health provider-beneficiary group analysis: an empirical study in Sichuan Province, China.

Authors:  Jia Li; Lian Yang; Yitong Zhang; Hailun Liao; Yuan Ma; Qun Sun
Journal:  Orphanet J Rare Dis       Date:  2022-10-08       Impact factor: 4.303

Review 5.  Diagnosis of Rare Diseases: a scoping review of clinical decision support systems.

Authors:  Jannik Schaaf; Martin Sedlmayr; Johanna Schaefer; Holger Storf
Journal:  Orphanet J Rare Dis       Date:  2020-09-24       Impact factor: 4.123

6.  Interviews with experts in rare diseases for the development of clinical decision support system software - a qualitative study.

Authors:  Jannik Schaaf; Hans-Ulrich Prokosch; Martin Boeker; Johanna Schaefer; Jessica Vasseur; Holger Storf; Martin Sedlmayr
Journal:  BMC Med Inform Decis Mak       Date:  2020-09-16       Impact factor: 2.796

7.  A Novel Diagnostic Decision Support System for Medical Professionals: Prospective Feasibility Study.

Authors:  Joanna Timiliotis; Bibiana Blümke; Peter Daniel Serfözö; Stephen Gilbert; Marta Ondrésik; Ewelina Türk; Martin Christian Hirsch; Jens Eckstein
Journal:  JMIR Form Res       Date:  2022-03-24
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.