Common pre-diagnostic features in individuals with different rare diseases represent a key for diagnostic support with computerized pattern recognition?

Journal: PloS one
Published Date: Oct 10, 2019

Abstract

BACKGROUND: Rare diseases (RD) result in a wide variety of clinical presentations, and this creates a significant diagnostic challenge for health care professionals. We hypothesized that there exist a set of consistent and shared phenomena among all individuals affected by (different) RD during the time before diagnosis is established.

Authors

  • Lorenz Grigull
    Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
  • Sandra Mehmecke
    Nursing Council (Pflegekammer) Lower Saxony, Hannover, Germany.
  • Ann-Katrin Rother
    Department of Pediatrics and Adolescent Medicine, University of Cologne, Cologne, Germany.
  • Susanne Blöß
    Department of Hematology, Hemostasis, Oncology and Stem Cell Transplantation, Hannover Medical School, Hannover, Germany.
  • Christian Klemann
    Department of Pediatric Pneumology, Allergy and Neonatology, Hannover Medical School, Hannover, Germany.
  • Ulrike Schumacher
    DRK Clementinenkrankenhaus, Hannover, Germany.
  • Urs Mücke
    Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
  • Xiaowei Kortum
    Department of Computer Science, Ostfalia University of Applied Sciences, Wolfenbuettel, Germany.
  • Werner Lechner
    Improved Medical Diagnostics IMD GmbH, Donauwoerth, Germany.
  • Frank Klawonn
    Department of Computer Science, Ostfalia University of Applied Sciences, Wolfenbuettel, Germany.

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