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Tuberous Sclerosis

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Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex.

PloS one
OBJECTIVE: To develop and test a deep learning algorithm to automatically detect cortical tubers in magnetic resonance imaging (MRI), to explore the utility of deep learning in rare disorders with limited data, and to generate an open-access deep lea...

Predicting Antiseizure Medication Treatment in Children with Rare Tuberous Sclerosis Complex-Related Epilepsy Using Deep Learning.

AJNR. American journal of neuroradiology
BACKGROUND AND PURPOSE: Tuberous sclerosis complex disease is a rare, multisystem genetic disease, but appropriate drug treatment allows many pediatric patients to have positive outcomes. The purpose of this study was to predict the effectiveness of ...

Utility of word embeddings from large language models in medical diagnosis.

Journal of the American Medical Informatics Association : JAMIA
OBJECTIVE: This study evaluates the utility of word embeddings, generated by large language models (LLMs), for medical diagnosis by comparing the semantic proximity of symptoms to their eponymic disease embedding ("eponymic condition") and the mean o...