Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Diagnostics of malformation syndromes using an available computer program.

D Boda1, I Györi, B Pasek

  • 1Department of Paediatrics, University Medical School, Szeged, Hungary.

Acta Paediatrica Hungarica
|January 1, 1988
PubMed
Summary

Computer-assisted diagnosis of malformation syndromes aids pediatricians. The "Syndrome Program" effectively identifies potential diagnoses, improving accuracy in genetic counseling and diagnostic practices.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Pyoderma vegetans developed on chronic leg ulcer.

Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi·2015
Same author

Cutaneous manifestations associated with thyroid disease.

Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi·2015
Same author

Histopathologic features of Spitzoid lesions in different age groups.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie·2013
Same author

An analytic solution for the magnetization of two-dimensional ferrofluids based on the mean spherical approximation.

Journal of physics. Condensed matter : an Institute of Physics journal·2012
Same author

Compartmental systems with pipes.

Mathematical biosciences·2011
Same author

The role of confocal microscopy in the dermato-oncology practice.

Journal of medicine and life·2011

Area of Science:

  • Medical Genetics
  • Clinical Diagnostics
  • Computational Biology

Background:

  • Accurate diagnosis of malformation syndromes is crucial for genetic counseling.
  • The increasing number of known syndromes necessitates advanced diagnostic tools.
  • Differential diagnosis in clinical practice can be complex and time-consuming.

Purpose of the Study:

  • To evaluate the utility of a computer-assisted diagnostic program for malformation syndromes.
  • To assess the benefits an experienced pediatrician can gain from using the "Syndrome Program" by R. Winter and M. Baraitser.
  • To determine if computational tools can aid in the differential diagnosis of rare genetic disorders.

Main Methods:

  • Application of the "Syndrome Program" software.

Related Experiment Videos

  • Input of coded symptoms for undiagnosed cases.
  • Computer generation of a differential diagnosis list.
  • Comparison of computer-generated diagnoses with clinical assessments for 100 syndromes.

    • Main Results:

    • The computer program produced a concise list of potential diagnoses for user assessment.
    • The method yielded very good results in controlling the diagnoses of 100 different syndromes.
    • The program facilitated recall and comparison of syndrome features and references.

    Conclusions:

    • Computer-assisted diagnosis of malformation syndromes is a valuable informational resource.
    • This technology can help standardize diagnostic practices in clinical settings.
    • It has the potential to enhance international cooperation and epidemiological studies in medical genetics.