Hospital General De Zona

Artificial Intelligence in the Diagnosis, Treatment, and Management of Rare Diseases: Opportunities and Challenges from a Latin American Perspective

Rare diseases collectively affect between 3.5 and 5.9% of the global population. Yet, patients still endure an average diagnostic interval of five to seven years before receiving an accurate explanation of their condition. Approximately 80% of these disorders have a genetic origi...

How to Train Your Chatbot: Information‐Theoretic Foundations of Diagnostic Questioning in Inborn Errors of Immunity

BACKGROUND: Navigating the more than 550 inborn errors of immunity (IEI) requires efficient diagnostic reasoning. Information theory suggests questions should be prioritized by their capacity to reduce diagnostic uncertainty (entropy); yet whether experts or large language models...