ArticleJournal of general internal medicine2025
Rising to the Challenge of Rare Diagnoses.
Article in Journal of general internal medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- Artificial intelligence chatbots in response to patient's common inquiries about chordoma: A cross-sectional study.Brain & spine · 2026Article
- A Qualitative Study of the Initial Diagnosis and Treatment Experience of Black Patients with Newly Diagnosed Acute Myeloid Leukemia.Palliative medicine reportsArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Patients with rare conditions often experience substantial delays between presentation and diagnosis, and some remain undiagnosed. In this Perspective, we outline the many challenges in diagnosing rare conditions in the modern clinical context. We review relevant concepts of diagnostic reasoning as they relate to rare conditions. We present solutions currently available for clinicians to mitigate some of these problems, including facilitating deliberate reflection, utilizing a diagnostic management team, and optimizing diagnostic calibration. Finally, we speculate how technology, such as chatbots and decision support tools enhanced by artificial intelligence, may augment a clinician's ability to diagnose rare conditions in a timely and accurate manner without excessive resource use.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.