Literature DB >> 27894443

The Team-Based Approach to Undiagnosed and Rare Diseases.

Robert M Kliegman1, Barbara E Ruggeri2, Molly Marquardt Smith2.   

Abstract

Patients with undiagnosed or rare diseases often remain without a diagnosis for many years. Many are misdiagnosed or treated symptomatically without having an identified underlying disease process. Health care providers in general practice and subspecialists are equipped to diagnose diseases commonly seen. Most practitioners are unlikely to be familiar with uncommon manifestations of a common disorder and have little or no experience with rare diseases. Multidisciplinary teams are effective in reviewing patients with undiagnosed and rare diseases and in developing a new diagnostic strategy for appropriate evaluation. A medical librarian and an access coordinating navigator are essential members of the team. Copyright Â
© 2016 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Multidisciplinary; Team approach; Undiagnosed or rare diseases

Mesh:

Year:  2017        PMID: 27894443     DOI: 10.1016/j.pcl.2016.08.003

Source DB:  PubMed          Journal:  Pediatr Clin North Am        ISSN: 0031-3955            Impact factor:   3.278


  5 in total

Review 1.  [Healthcare networks for people with rare diseases: integrating data and expertise].

Authors:  Holm Graessner; Holger Storf; Franz Schaefer
Journal:  Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz       Date:  2022-09-27       Impact factor: 1.595

Review 2.  Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases.

Authors:  Panayiota Papasavva; Marina Kleanthous; Carsten W Lederer
Journal:  Mol Diagn Ther       Date:  2019-04       Impact factor: 4.074

Review 3.  The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.

Authors:  Dèlia Yubero; Daniel Natera-de Benito; Jordi Pijuan; Judith Armstrong; Loreto Martorell; Guerau Fernàndez; Joan Maynou; Cristina Jou; Mònica Roldan; Carlos Ortez; Andrés Nascimento; Janet Hoenicka; Francesc Palau
Journal:  Int J Mol Sci       Date:  2021-04-20       Impact factor: 5.923

4.  Training Internal Medicine Residents in Difficult Diagnosis: A Novel Diagnostic Second Opinion Clinic Experience.

Authors:  Stefano Testa; Mugdha Joshi; Justin Lotfi; Bryant Lin; Maja Artandi; Kim F Chiang; Kevin Chang; Baldeep Singh; Linda N Geng
Journal:  J Med Educ Curric Dev       Date:  2022-03-29

Review 5.  Psychosocial Considerations for the Child with Rare Disease: A Review with Recommendations and Calls to Action.

Authors:  Leslee T Belzer; S Margaret Wright; Emily J Goodwin; Mehar N Singh; Brian S Carter
Journal:  Children (Basel)       Date:  2022-06-21
  5 in total

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