The importance of case reports in advancing scientific knowledge of rare diseases.

Abstract:

:Case reports are defined as the scientific documentation of a single clinical observation and have a time-honored and rich tradition in medicine and scientific publication. Case reports represent a relevant, timely, and important study design in advancing medical scientific knowledge especially of rare diseases. While there are clear limitations to the methodology of case studies in determination of treatment and establishment of new tests, the observation of a single patient can add to our understanding of etiology, pathogenesis, natural history, and treatment of particularly rare diseases, and to the training of potential junior investigators. In recent years this class of scientific publication has come under scrutiny and disfavor among some in the medical scientific publication community and case studies are frequently relegated to the lowest rung of the hierarchy of study design. In this chapter the author will review and summarize the debate around the scientific publication of case reports in the context of the study of rare diseases and will present a taxonomy that ideally will encourage further dialogue on the topic. Future research on the importance of case reports in advancing knowledge of rare diseases is recommended.

journal_name

Adv Exp Med Biol

authors

Carey JC

doi

10.1007/978-90-481-9485-8_5

subject

Has Abstract

pub_date

2010-01-01 00:00:00

pages

77-86

eissn

0065-2598

issn

2214-8019

journal_volume

686

pub_type

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