Todd J. Schwedt

Md Mahfuzur Rahman Siddiquee, Jay Shah, Teresa Wu et al.

Harnessing the power of deep neural networks in the medical imaging domain is challenging due to the difficulties in acquiring large annotated datasets, especially for rare diseases, which involve high costs, time, and effort for annotation. Unsupervised disease detection methods, such as anomaly detection, can significantly reduce human effort in these scenarios. While anomaly detection typically focuses on learning from images of healthy subjects only, real-world situations often present unannotated datasets with a mixture of healthy and diseased subjects. Recent studies have demonstrated that utilizing such unannotated images can improve unsupervised disease and anomaly detection. However, these methods do not utilize knowledge specific to registered neuroimages, resulting in a subpar performance in neurologic disease detection. To address this limitation, we propose Brainomaly, a GAN-based image-to-image translation method specifically designed for neurologic disease detection. Brainomaly not only offers tailored image-to-image translation suitable for neuroimages but also leverages unannotated mixed images to achieve superior neurologic disease detection. Additionally, we address the issue of model selection for inference without annotated samples by proposing a pseudo-AUC metric, further enhancing Brainomaly's detection performance. Extensive experiments and ablation studies demonstrate that Brainomaly outperforms existing state-of-the-art unsupervised disease and anomaly detection methods by significant margins in Alzheimer's disease detection using a publicly available dataset and headache detection using an institutional dataset. The code is available from https://github.com/mahfuzmohammad/Brainomaly.

Md Mahfuzur Rahman Siddiquee, Jay Shah, Teresa Wu et al.

Automated anomaly detection from medical images, such as MRIs and X-rays, can significantly reduce human effort in disease diagnosis. Owing to the complexity of modeling anomalies and the high cost of manual annotation by domain experts (e.g., radiologists), a typical technique in the current medical imaging literature has focused on deriving diagnostic models from healthy subjects only, assuming the model will detect the images from patients as outliers. However, in many real-world scenarios, unannotated datasets with a mix of both healthy and diseased individuals are abundant. Therefore, this paper poses the research question of how to improve unsupervised anomaly detection by utilizing (1) an unannotated set of mixed images, in addition to (2) the set of healthy images as being used in the literature. To answer the question, we propose HealthyGAN, a novel one-directional image-to-image translation method, which learns to translate the images from the mixed dataset to only healthy images. Being one-directional, HealthyGAN relaxes the requirement of cycle consistency of existing unpaired image-to-image translation methods, which is unattainable with mixed unannotated data. Once the translation is learned, we generate a difference map for any given image by subtracting its translated output. Regions of significant responses in the difference map correspond to potential anomalies (if any). Our HealthyGAN outperforms the conventional state-of-the-art methods by significant margins on two publicly available datasets: COVID-19 and NIH ChestX-ray14, and one institutional dataset collected from Mayo Clinic. The implementation is publicly available at https://github.com/mahfuzmohammad/HealthyGAN.

Yuting Guo, Swati Rajwal, Sahithi Lakamana et al.

Migraine is a high-prevalence and disabling neurological disorder. However, information migraine management in real-world settings could be limited to traditional health information sources. In this paper, we (i) verify that there is substantial migraine-related chatter available on social media (Twitter and Reddit), self-reported by migraine sufferers; (ii) develop a platform-independent text classification system for automatically detecting self-reported migraine-related posts, and (iii) conduct analyses of the self-reported posts to assess the utility of social media for studying this problem. We manually annotated 5750 Twitter posts and 302 Reddit posts. Our system achieved an F1 score of 0.90 on Twitter and 0.93 on Reddit. Analysis of information posted by our 'migraine cohort' revealed the presence of a plethora of relevant information about migraine therapies and patient sentiments associated with them. Our study forms the foundation for conducting an in-depth analysis of migraine-related information using social media data.

Alejandro Lozano, Keiko Ihara, Ping-Hao Yang et al.

Summarizing the latest medical literature to guide clinical decision-making is essential for evidence-based medicine and high-quality patient care. Yet clinicians face increasing challenges due to limited time with patients and a rapidly growing volume of published articles. Although retrieval-augmented large language models (LLMs) have shown promise in clinical summarization, human evaluations of their effectiveness in synthesizing broader scientific literature and direct comparisons to expert-written syntheses remain scarce. We constructed a RAG-based agentic AI framework using three state-of-the-art LLMs: Sonnet, GPT-4o, and Llama 3.1. A headache specialist created 13 questions, three for prompt optimization and ten for evaluation. Ten headache specialists across the United States and Canada each wrote a summary for one question, yielding four summaries per question (expert, Sonnet, GPT-4o, and Llama). The experts, blinded to authorship, critically evaluated the summaries, excluding the topic for which they wrote a summary, based on correctness, completeness, conciseness, and clinical utility, scoring each from 1 to 10 using standardized rubrics. They also ranked the summaries by preference and indicated whether they believed each summary was written by an expert or an LLM. Our study, comparing LLM- and expert-written literature summaries evaluated by headache specialists, showed that expert-written summaries were preferred, although experts sometimes found it challenging to distinguish between human- and AI-generated summaries. We also identified key expert-valued features beyond standard evaluation metrics that can guide future refinement of both human and AI literature summarization pipelines.

Kihyuk Yoon, Lingchao Mao, Catherine Chong et al.

Temporal information in structured electronic health records (EHRs) is often lost in sparse one-hot or count-based representations, while sequence models can be costly and data-hungry. We propose PaReGTA, an LLM-based encoding framework that (i) converts longitudinal EHR events into visit-level templated text with explicit temporal cues, (ii) learns domain-adapted visit embeddings via lightweight contrastive fine-tuning of a sentence-embedding model, and (iii) aggregates visit embeddings into a fixed-dimensional patient representation using hybrid temporal pooling that captures both recency and globally informative visits. Because PaReGTA does not require training from scratch but instead utilizes a pre-trained LLM, it can perform well even in data-limited cohorts. Furthermore, PaReGTA is model-agnostic and can benefit from future EHR-specialized sentence-embedding models. For interpretability, we introduce PaReGTA-RSS (Representation Shift Score), which quantifies clinically defined factor importance by recomputing representations after targeted factor removal and projecting representation shifts through a machine learning model. On 39,088 migraine patients from the All of Us Research Program, PaReGTA outperforms sparse baselines for migraine type classification while deep sequential models were unstable in our cohort.

Fazle Rafsani, Jay Shah, Catherine D. Chong et al.

Anomaly detection and classification in medical imaging are critical for early diagnosis but remain challenging due to limited annotated data, class imbalance, and the high cost of expert labeling. Emerging vision foundation models such as DINOv2, pretrained on extensive, unlabeled datasets, offer generalized representations that can potentially alleviate these limitations. In this study, we propose an attention-based global aggregation framework tailored specifically for 3D medical image anomaly classification. Leveraging the self-supervised DINOv2 model as a pretrained feature extractor, our method processes individual 2D axial slices of brain MRIs, assigning adaptive slice-level importance weights through a soft attention mechanism. To further address data scarcity, we employ a composite loss function combining supervised contrastive learning with class-variance regularization, enhancing inter-class separability and intra-class consistency. We validate our framework on the ADNI dataset and an institutional multi-class headache cohort, demonstrating strong anomaly classification performance despite limited data availability and significant class imbalance. Our results highlight the efficacy of utilizing pretrained 2D foundation models combined with attention-based slice aggregation for robust volumetric anomaly detection in medical imaging. Our implementation is publicly available at https://github.com/Rafsani/DinoAtten3D.git.