How many zebras are there, and where are they hiding in medical literature? A literature review of publications on rare diseases

JL Walewski, D Donovan, M Nori - Expert Opinion on Orphan …, 2019 - Taylor & Francis
Background: Reliable and accurate medical literature is essential for patients with rare
diseases (affecting~ 400 million people globally), their advocates, and caregivers (PACs) …

Zebrahunter: searching rare medical diagnoses and retrieving relevant citations

E Silfen, C Patel, E Mendonça… - AMIA Annual Symposium …, 2006 - ncbi.nlm.nih.gov
The clinicopathological conferences and case reports that are published in the medical
literature contain rare and complex medical cases that are of general interest to the medical …

Noncompletion and nonpublication of trials studying rare diseases: a cross-sectional analysis

CA Rees, N Pica, MC Monuteaux, FT Bourgeois - PLoS medicine, 2019 - journals.plos.org
Background Rare diseases affect as many as 60 million people in the United States and
Europe. However, most rare diseases lack effective therapies and are in critical need of …

Factors influencing the generation of evidence from simple data held in international rare disease patient registries

R Jandhyala, S Christopher - Pharmaceutical Medicine, 2020 - Springer
Background Rare diseases (defined as affecting< 1 in 2000 Europeans) may collectively
affect up to approximately 8% of the population. The low prevalence of individual diseases …

[HTML][HTML] Nuggets: findings shared in multiple clinical case reports

NR Smalheiser, W Shao, SY Philip - Journal of the Medical Library …, 2015 - ncbi.nlm.nih.gov
Objective The researchers assessed prevalence in the clinical case report literature of
multiple reports independently reporting the same (or nearly the same) main finding …

Scalability of Meta-Research on Patient-Authored Publications: You Can Do a Lot With a Bot

B Yang, D Lobban, K Woolley - Current Medical Research and …, 2023 - research.usc.edu.au
Objective: As patient authorship increases, publication professionals may face increasing
responsibilities in identifying, guiding, and measuring the output of patient authors. Meta …

Retractions in the medical literature: how many patients are put at risk by flawed research?

RG Steen - Journal of medical ethics, 2011 - jme.bmj.com
Background Clinical papers so flawed that they are eventually retracted may put patients at
risk. Patient risk could arise in a retracted primary study or in any secondary study that draws …

The importance of review articles in making the voice of rare diseases heard: OJRD's 10th anniversary

S Aymé - Orphanet Journal of Rare Diseases, 2016 - Springer
“Join us in making the voice of rare diseases heard” is the slogan of Rare Disease Day
2016, a special day established by EURORDIS (http://www. rarediseaseday. org/). It takes …

Duplicate publication and related problems in the pediatrics literature

R Haworth, K Anderson, P Hong - Global pediatric health, 2014 - journals.sagepub.com
Objective. The aim of this study was to (a) determine the rate of redundant publication in the
pediatrics literature and (b) to characterize these articles. Methods. Index articles in JAMA …

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

JC Carey - Rare diseases epidemiology, 2010 - Springer
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 …