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 sarcoidosis


Deep learning-based segmentation of T1 and T2 cardiac MRI maps for automated disease detection

arXiv.org Artificial Intelligence

Objectives Parametric tissue mapping enables quantitative cardiac tissue characterization but is limited by inter-observer variability during manual delineation. Traditional approaches relying on average relaxation values and single cutoffs may oversimplify myocardial complexity. This study evaluates whether deep learning (DL) can achieve segmentation accuracy comparable to inter-observer variability, explores the utility of statistical features beyond mean T1/T2 values, and assesses whether machine learning (ML) combining multiple features enhances disease detection. Materials & Methods T1 and T2 maps were manually segmented. The test subset was independently annotated by two observers, and inter-observer variability was assessed. A DL model was trained to segment left ventricle blood pool and myocardium. Average (A), lower quartile (LQ), median (M), and upper quartile (UQ) were computed for the myocardial pixels and employed in classification by applying cutoffs or in ML. Dice similarity coefficient (DICE) and mean absolute percentage error evaluated segmentation performance. Bland-Altman plots assessed inter-user and model-observer agreement. Receiver operating characteristic analysis determined optimal cutoffs. Pearson correlation compared features from model and manual segmentations. F1-score, precision, and recall evaluated classification performance. Wilcoxon test assessed differences between classification methods, with p < 0.05 considered statistically significant. Results 144 subjects were split into training (100), validation (15) and evaluation (29) subsets. Segmentation model achieved a DICE of 85.4%, surpassing inter-observer agreement. Random forest applied to all features increased F1-score (92.7%, p < 0.001). Conclusion DL facilitates segmentation of T1/ T2 maps. Combining multiple features with ML improves disease detection.


Elucidating Mechanisms of Demographic Bias in LLMs for Healthcare

arXiv.org Artificial Intelligence

We know from prior work that LLMs encode social biases, and that this manifests in clinical tasks. In this work we adopt tools from mechanistic interpretability to unveil sociodemographic representations and biases within LLMs in the context of healthcare. Specifically, we ask: Can we identify activations within LLMs that encode sociodemographic information (e.g., gender, race)? We find that gender information is highly localized in middle MLP layers and can be reliably manipulated at inference time via patching. Such interventions can surgically alter generated clinical vignettes for specific conditions, and also influence downstream clinical predictions which correlate with gender, e.g., patient risk of depression. We find that representation of patient race is somewhat more distributed, but can also be intervened upon, to a degree. To our knowledge, this is the first application of mechanistic interpretability methods to LLMs for healthcare.


Understanding the Rare Inflammatory Disease Using Large Language Models and Social Media Data

arXiv.org Artificial Intelligence

Sarcoidosis is a rare inflammatory disease characterized by the formation of granulomas in various organs. The disease presents diagnostic and treatment challenges due to its diverse manifestations and unpredictable nature. In this study, we employed a Large Language Model (LLM) to analyze sarcoidosis-related discussions on the social media platform Reddit. Our findings underscore the efficacy of LLMs in accurately identifying sarcoidosis-related content. We discovered a wide array of symptoms reported by patients, with fatigue, swollen lymph nodes, and shortness of breath as the most prevalent. Prednisone was the most prescribed medication, while infliximab showed the highest effectiveness in improving prognoses. Notably, our analysis revealed disparities in prognosis based on age and gender, with women and younger patients experiencing good and polarized outcomes, respectively. Furthermore, unsupervised clustering identified three distinct patient subgroups (phenotypes) with unique symptom profiles, prognostic outcomes, and demographic distributions. Finally, sentiment analysis revealed a moderate negative impact on patients' mental health post-diagnosis, particularly among women and younger individuals. Our study represents the first application of LLMs to understand sarcoidosis through social media data. It contributes to understanding the disease by providing data-driven insights into its manifestations, treatments, prognoses, and impact on patients' lives. Our findings have direct implications for improving personalized treatment strategies and enhancing the quality of care for individuals living with sarcoidosis.