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MEDDxAgent: A Unified Modular Agent Framework for Explainable Automatic Differential Diagnosis

arXiv.org Artificial Intelligence

Differential Diagnosis (DDx) is a fundamental yet complex aspect of clinical decision-making, in which physicians iteratively refine a ranked list of possible diseases based on symptoms, antecedents, and medical knowledge. While recent advances in large language models have shown promise in supporting DDx, existing approaches face key limitations, including single-dataset evaluations, isolated optimization of components, unrealistic assumptions about complete patient profiles, and single-attempt diagnosis. We introduce a Modular Explainable DDx Agent (MEDDxAgent) framework designed for interactive DDx, where diagnostic reasoning evolves through iterative learning, rather than assuming a complete patient profile is accessible. MEDDxAgent integrates three modular components: (1) an orchestrator (DDxDriver), (2) a history taking simulator, and (3) two specialized agents for knowledge retrieval and diagnosis strategy. To ensure robust evaluation, we introduce a comprehensive DDx benchmark covering respiratory, skin, and rare diseases. We analyze single-turn diagnostic approaches and demonstrate the importance of iterative refinement when patient profiles are not available at the outset. Our broad evaluation demonstrates that MEDDxAgent achieves over 10% accuracy improvements in interactive DDx across both large and small LLMs, while offering critical explainability into its diagnostic reasoning process.


Medical Hallucinations in Foundation Models and Their Impact on Healthcare

arXiv.org Artificial Intelligence

Foundation Models that are capable of processing and generating multi-modal data have transformed AI's role in medicine. However, a key limitation of their reliability is hallucination, where inaccurate or fabricated information can impact clinical decisions and patient safety. We define medical hallucination as any instance in which a model generates misleading medical content. This paper examines the unique characteristics, causes, and implications of medical hallucinations, with a particular focus on how these errors manifest themselves in real-world clinical scenarios. Our contributions include (1) a taxonomy for understanding and addressing medical hallucinations, (2) benchmarking models using medical hallucination dataset and physician-annotated LLM responses to real medical cases, providing direct insight into the clinical impact of hallucinations, and (3) a multi-national clinician survey on their experiences with medical hallucinations. Our results reveal that inference techniques such as Chain-of-Thought (CoT) and Search Augmented Generation can effectively reduce hallucination rates. However, despite these improvements, non-trivial levels of hallucination persist. These findings underscore the ethical and practical imperative for robust detection and mitigation strategies, establishing a foundation for regulatory policies that prioritize patient safety and maintain clinical integrity as AI becomes more integrated into healthcare. The feedback from clinicians highlights the urgent need for not only technical advances but also for clearer ethical and regulatory guidelines to ensure patient safety. A repository organizing the paper resources, summaries, and additional information is available at https://github.com/mitmedialab/medical hallucination.


Causal AI-based Root Cause Identification: Research to Practice at Scale

arXiv.org Artificial Intelligence

Modern applications are increasingly built as vast, intricate, distributed systems. These systems comprise various software modules, often developed by different teams using different programming languages and deployed across hundreds to thousands of machines, sometimes spanning multiple data centers. Given the ir scale and complexity, these applications are often designed to tolerate failures and performance issues through inbuilt failure recovery techniques (e.g., hardware or software redundancy) or extern al methods (e.g., health check - based restarts). Computer systems experience frequent failures despite every effort: performance degradations and violations of reliability and K ey Performance Indicators (K PI s) are inevitable. These failures, depending on their nature, can lead to catastrophic incidents impacting critical systems and customers. Swift and accurate root cause identification is thus essential to avert significant incidents impacting both service quality and end users. In this complex landscape, observability platforms that provide deep insights into system behavior and help identify performance bottlenecks are not just helpful -- they are essential for maintaining reliability, ensuring optimal performance, and quickly resolving issues in production. The ability to reason a bout these systems in real - time is critical to ensuring the scalability and stability of modern services. To aid in these investigations, observability platforms that collect various telemetry data t o inform about application behavior and its underlying infrastructure are getting popular .


Robust Confinement State Classification with Uncertainty Quantification through Ensembled Data-Driven Methods

arXiv.org Artificial Intelligence

Maximizing fusion performance in tokamaks relies on high energy confinement, often achieved through distinct operating regimes. The automated labeling of these confinement states is crucial to enable large-scale analyses or for real-time control applications. While this task becomes difficult to automate near state transitions or in marginal scenarios, much success has been achieved with data-driven models. However, these methods generally provide predictions as point estimates, and cannot adequately deal with missing and/or broken input signals. To enable wide-range applicability, we develop methods for confinement state classification with uncertainty quantification and model robustness. We focus on off-line analysis for TCV discharges, distinguishing L-mode, H-mode, and an in-between dithering phase (D). We propose ensembling data-driven methods on two axes: model formulations and feature sets. The former considers a dynamic formulation based on a recurrent Fourier Neural Operator-architecture and a static formulation based on gradient-boosted decision trees. These models are trained using multiple feature groupings categorized by diagnostic system or physical quantity. A dataset of 302 TCV discharges is fully labeled, and will be publicly released. We evaluate our method quantitatively using Cohen's kappa coefficient for predictive performance and the Expected Calibration Error for the uncertainty calibration. Furthermore, we discuss performance using a variety of common and alternative scenarios, the performance of individual components, out-of-distribution performance, cases of broken or missing signals, and evaluate conditionally-averaged behavior around different state transitions. Overall, the proposed method can distinguish L, D and H-mode with high performance, can cope with missing or broken signals, and provides meaningful uncertainty estimates.


Applications of Large Models in Medicine

arXiv.org Artificial Intelligence

This paper explores the advancements and applications of large-scale models in the medical field, with a particular focus on Medical Large Models (MedLMs). These models, encompassing Large Language Models (LLMs), Vision Models, 3D Large Models, and Multimodal Models, are revolutionizing healthcare by enhancing disease prediction, diagnostic assistance, personalized treatment planning, and drug discovery. The integration of graph neural networks in medical knowledge graphs and drug discovery highlights the potential of Large Graph Models (LGMs) in understanding complex biomedical relationships. The study also emphasizes the transformative role of Vision-Language Models (VLMs) and 3D Large Models in medical image analysis, anatomical modeling, and prosthetic design. Despite the challenges, these technologies are setting new benchmarks in medical innovation, improving diagnostic accuracy, and paving the way for personalized healthcare solutions. This paper aims to provide a comprehensive overview of the current state and future directions of large models in medicine, underscoring their significance in advancing global health.


AdverX-Ray: Ensuring X-Ray Integrity Through Frequency-Sensitive Adversarial VAEs

arXiv.org Artificial Intelligence

Ensuring the quality and integrity of medical images is crucial for maintaining diagnostic accuracy in deep learning-based Computer-Aided Diagnosis and Computer-Aided Detection (CAD) systems. Covariate shifts are subtle variations in the data distribution caused by different imaging devices or settings and can severely degrade model performance, similar to the effects of adversarial attacks. Therefore, it is vital to have a lightweight and fast method to assess the quality of these images prior to using CAD models. AdverX-Ray addresses this need by serving as an image-quality assessment layer, designed to detect covariate shifts effectively. This Adversarial Variational Autoencoder prioritizes the discriminator's role, using the suboptimal outputs of the generator as negative samples to fine-tune the discriminator's ability to identify high-frequency artifacts. Images generated by adversarial networks often exhibit severe high-frequency artifacts, guiding the discriminator to focus excessively on these components. This makes the discriminator ideal for this approach. Trained on patches from X-ray images of specific machine models, AdverX-Ray can evaluate whether a scan matches the training distribution, or if a scan from the same machine is captured under different settings. Extensive comparisons with various OOD detection methods show that AdverX-Ray significantly outperforms existing techniques, achieving a 96.2% average AUROC using only 64 random patches from an X-ray. Its lightweight and fast architecture makes it suitable for real-time applications, enhancing the reliability of medical imaging systems. The code and pretrained models are publicly available.


In-context learning of evolving data streams with tabular foundational models

arXiv.org Artificial Intelligence

State-of-the-art data stream mining in supervised classification has traditionally relied on ensembles of incremental decision trees. However, the emergence of large tabular models, i.e., transformers designed for structured numerical data, marks a significant paradigm shift. These models move beyond traditional weight updates, instead employing in-context learning through prompt tuning. By using on-the-fly sketches to summarize unbounded streaming data, one can feed this information into a pre-trained model for efficient processing. This work bridges advancements from both areas, highlighting how transformers' implicit meta-learning abilities, pre-training on drifting natural data, and reliance on context optimization directly address the core challenges of adaptive learning in dynamic environments. Exploring real-time model adaptation, this research demonstrates that TabPFN, coupled with a simple sliding memory strategy, consistently outperforms ensembles of Hoeffding trees across all non-stationary benchmarks. Several promising research directions are outlined in the paper. The authors urge the community to explore these ideas, offering valuable opportunities to advance in-context stream learning.


DFDT: Dynamic Fast Decision Tree for IoT Data Stream Mining on Edge Devices

arXiv.org Artificial Intelligence

The Internet of Things generates massive data streams, with edge computing emerging as a key enabler for online IoT applications and 5G networks. Edge solutions facilitate real-time machine learning inference, but also require continuous adaptation to concept drifts. Ensemble-based solutions improve predictive performance, but incur higher resource consumption, latency, and memory demands. This paper presents DFDT: Dynamic Fast Decision Tree, a novel algorithm designed for energy-efficient memory-constrained data stream mining. DFDT improves hoeffding tree growth efficiency by dynamically adjusting grace periods, tie thresholds, and split evaluations based on incoming data. It incorporates stricter evaluation rules (based on entropy, information gain, and leaf instance count), adaptive expansion modes, and a leaf deactivation mechanism to manage memory, allowing more computation on frequently visited nodes while conserving energy on others. Experiments show that the proposed framework can achieve increased predictive performance (0.43 vs 0.29 ranking) with constrained memory and a fraction of the runtime of VFDT or SVFDT.


Learning Counterfactually Fair Models via Improved Generation with Neural Causal Models

arXiv.org Artificial Intelligence

One of the main concerns while deploying machine learning models in real-world applications is fairness. Counterfactual fairness has emerged as an intuitive and natural definition of fairness. However, existing methodologies for enforcing counterfactual fairness seem to have two limitations: (i) generating counterfactual samples faithful to the underlying causal graph, and (ii) as we argue in this paper, existing regularizers are mere proxies and do not directly enforce the exact definition of counterfactual fairness. In this work, our aim is to mitigate both issues. Firstly, we propose employing Neural Causal Models (NCMs) for generating the counterfactual samples. For implementing the abduction step in NCMs, the posteriors of the exogenous variables need to be estimated given a counterfactual query, as they are not readily available. As a consequence, $\mathcal{L}_3$ consistency with respect to the underlying causal graph cannot be guaranteed in practice due to the estimation errors involved. To mitigate this issue, we propose a novel kernel least squares loss term that enforces the $\mathcal{L}_3$ constraints explicitly. Thus, we obtain an improved counterfactual generation suitable for the counterfactual fairness task. Secondly, we propose a new MMD-based regularizer term that explicitly enforces the counterfactual fairness conditions into the base model while training. We show an improved trade-off between counterfactual fairness and generalization over existing baselines on synthetic and benchmark datasets.


Lifespan tree of brain anatomy: diagnostic values for motor and cognitive neurodegenerative diseases

arXiv.org Artificial Intelligence

The differential diagnosis of neurodegenerative diseases, characterized by overlapping symptoms, may be challenging. Brain imaging coupled with artificial intelligence has been previously proposed for diagnostic support, but most of these methods have been trained to discriminate only isolated diseases from controls. Here, we develop a novel machine learning framework, named lifespan tree of brain anatomy, dedicated to the differential diagnosis between multiple diseases simultaneously. It integrates the modeling of volume changes for 124 brain structures during the lifespan with non-linear dimensionality reduction and synthetic sampling techniques to create easily interpretable representations of brain anatomy over the course of disease progression. As clinically relevant proof- of-concept applications, we constructed a cognitive lifespan tree of brain anatomy for the differential diagnosis of six causes of neurodegenerative dementia and a motor lifespan tree of brain anatomy for the differential diagnosis of four causes of parkinsonism using 37594 MRI as a training dataset. This original approach enhanced significantly the efficiency of differential diagnosis in the external validation cohort of 1754 cases, outperforming existing state-of-the art machine learning techniques. Lifespan tree holds promise as a valuable tool for differential diagnostic in relevant clinical conditions, especially for diseases still lacking effective biological markers.