Neural Information Processing Systems http://nips.cc/

This paper proposes REFUEL, a reinforcement learning method with two techniques: reward shaping and feature rebuilding, to improve the performance of online symptom checking for disease diagnosis.

Functional and structural connectivity (FC/SC) are key multimodal biomarkers for brain analysis, yet their clinical utility is hindered by costly acquisition, complex preprocessing, and frequent missing modalities. Existing foundation models either process single modalities or lack explicit mechanisms for cross-modal and cross-scale consistency. We propose BrainCSD, a hierarchical mixture-of-experts (MoE) foundation model that jointly synthesizes FC/SC biomarkers and supports downstream decoding tasks (diagnosis and prediction). BrainCSD features three neuroanatomically grounded components: (1) a ROI-specific MoE that aligns regional activations from canonical networks (e.g., DMN, FPN) with a global atlas via contrastive consistency; (2) a Encoding-Activation MOE that models dynamic cross-time/gradient dependencies in fMRI/dMRI; and (3) a network-aware refinement MoE that enforces structural priors and symmetry at individual and population levels. Evaluated on the datasets under complete and missing-modality settings, BrainCSD achieves SOTA results: 95.6\% accuracy for MCI vs. CN classification without FC, low synthesis error (FC RMSE: 0.038; SC RMSE: 0.006), brain age prediction (MAE: 4.04 years), and MMSE score estimation (MAE: 1.72 points). Code is available in \href{https://github.com/SXR3015/BrainCSD}{BrainCSD}

Alzheimer's disease (AD) is the most prevalent form of dementia, and its early diagnosis is essential for slowing disease progression. Recent studies on multimodal neuroimaging fusion using MRI and PET have achieved promising results by integrating multi-scale complementary features. However, most existing approaches primarily emphasize cross-modal complementarity while overlooking the diagnostic importance of modality-specific features. In addition, the inherent distributional differences between modalities often lead to biased and noisy representations, degrading classification performance. To address these challenges, we propose a Collaborative Attention and Consistent-Guided Fusion framework for MRI and PET based AD diagnosis. The proposed model introduces a learnable parameter representation (LPR) block to compensate for missing modality information, followed by a shared encoder and modality-independent encoders to preserve both shared and specific representations. Furthermore, a consistency-guided mechanism is employed to explicitly align the latent distributions across modalities. Experimental results on the ADNI dataset demonstrate that our method achieves superior diagnostic performance compared with existing fusion strategies.

Early and accurate diagnosis of Alzheimer's disease (AD), a complex neurodegenerative disorder, requires analysis of heterogeneous biomarkers (e.g., neuroimaging, genetic risk factors, cognitive tests, and cerebrospinal fluid proteins) typically represented in a tabular format. With flexible few-shot reasoning, multimodal integration, and natural-language-based interpretability, large language models (LLMs) offer unprecedented opportunities for prediction with structured biomedical data. We propose a novel framework called TAP-GPT, Tabular Alzheimer's Prediction GPT, that adapts TableGPT2, a multimodal tabular-specialized LLM originally developed for business intelligence tasks, for AD diagnosis using structured biomarker data with small sample sizes. Our approach constructs few-shot tabular prompts using in-context learning examples from structured biomedical data and finetunes TableGPT2 using the parameter-efficient qLoRA adaption for a clinical binary classification task of AD or cognitively normal (CN). The TAP-GPT framework harnesses the powerful tabular understanding ability of TableGPT2 and the encoded prior knowledge of LLMs to outperform more advanced general-purpose LLMs and a tabular foundation model (TFM) developed for prediction tasks. To our knowledge, this is the first application of LLMs to the prediction task using tabular biomarker data, paving the way for future LLM-driven multi-agent frameworks in biomedical informatics.

Large Language Models (LLMs) demonstrate strong generalization and reasoning abilities, making them well-suited for complex decision-making tasks such as medical consultation (MC). However, existing LLM-based methods often fail to capture the dual nature of MC, which entails two distinct sub-tasks: symptom inquiry, a sequential decision-making process, and disease diagnosis, a classification problem. This mismatch often results in ineffective symptom inquiry and unreliable disease diagnosis. To address this, we propose \textbf{DDO}, a novel LLM-based framework that performs \textbf{D}ual-\textbf{D}ecision \textbf{O}ptimization by decoupling the two sub-tasks and optimizing them with distinct objectives through a collaborative multi-agent workflow. Experiments on three real-world MC datasets show that DDO consistently outperforms existing LLM-based approaches and achieves competitive performance with state-of-the-art generation-based methods, demonstrating its effectiveness in the MC task. The code is available at https://github.com/zh-jia/DDO.

Artificial intelligence (AI) shows remarkable potential in medical imaging diagnostics, yet most current models require retraining when applied across different clinical settings, limiting their scalability. We introduce GlobeReady, a clinician-friendly AI platform that enables fundus disease diagnosis that operates without retraining, fine-tuning, or the needs for technical expertise. GlobeReady demonstrates high accuracy across imaging modalities: 93.9-98.5% for 11 fundus diseases using color fundus photographs (CPFs) and 87.2-92.7% for 15 fundus diseases using optic coherence tomography (OCT) scans. By leveraging training-free local feature augmentation, GlobeReady platform effectively mitigates domain shifts across centers and populations, achieving accuracies of 88.9-97.4% across five centers on average in China, 86.3-96.9% in Vietnam, and 73.4-91.0% in Singapore, and 90.2-98.9% in the UK. Incorporating a bulit-in confidence-quantifiable diagnostic mechanism further enhances the platform's accuracy to 94.9-99.4% with CFPs and 88.2-96.2% with OCT, while enabling identification of out-of-distribution cases with 86.3% accuracy across 49 common and rare fundus diseases using CFPs, and 90.6% accuracy across 13 diseases using OCT. Clinicians from countries rated GlobeReady highly for usability and clinical relevance (average score 4.6/5). These findings demonstrate GlobeReady's robustness, generalizability and potential to support global ophthalmic care without technical barriers.

Recent advances in artificial intelligence, particularly large language models LLMs, have shown promising capabilities in transforming rare disease research. This survey paper explores the integration of LLMs in the analysis of rare diseases, highlighting significant strides and pivotal studies that leverage textual data to uncover insights and patterns critical for diagnosis, treatment, and patient care. While current research predominantly employs textual data, the potential for multimodal data integration combining genetic, imaging, and electronic health records stands as a promising frontier. We review foundational papers that demonstrate the application of LLMs in identifying and extracting relevant medical information, simulating intelligent conversational agents for patient interaction, and enabling the formulation of accurate and timely diagnoses. Furthermore, this paper discusses the challenges and ethical considerations inherent in deploying LLMs, including data privacy, model transparency, and the need for robust, inclusive data sets. As part of this exploration, we present a section on experimentation that utilizes multiple LLMs alongside structured questionnaires, specifically designed for diagnostic purposes in the context of different diseases. We conclude with future perspectives on the evolution of LLMs towards truly multimodal platforms, which would integrate diverse data types to provide a more comprehensive understanding of rare diseases, ultimately fostering better outcomes in clinical settings.

Recent advances in reasoning-enhanced large language models (LLMs) and multimodal LLMs (MLLMs) have significantly improved performance in complex tasks, yet medical AI models often overlook the structured reasoning processes inherent in clinical practice. In this work, we present ChestX-Reasoner, a radiology diagnosis MLLM designed to leverage process supervision mined directly from clinical reports, reflecting the step-by-step reasoning followed by radiologists. We construct a large dataset by extracting and refining reasoning chains from routine radiology reports. Our two-stage training framework combines supervised fine-tuning and reinforcement learning guided by process rewards to better align model reasoning with clinical standards. We introduce RadRBench-CXR, a comprehensive benchmark featuring 59K visual question answering samples with 301K clinically validated reasoning steps, and propose RadRScore, a metric evaluating reasoning factuality, completeness, and effectiveness. ChestX-Reasoner outperforms existing medical and general-domain MLLMs in both diagnostic accuracy and reasoning ability, achieving 16%, 5.9%, and 18% improvements in reasoning ability compared to the best medical MLLM, the best general MLLM, and its base model, respectively, as well as 3.3%, 24%, and 27% improvements in outcome accuracy. All resources are open-sourced to facilitate further research in medical reasoning MLLMs.

Auscultation remains a cornerstone of clinical practice, essential for both initial evaluation and continuous monitoring. Clinicians listen to the lung sounds and make a diagnosis by combining the patient's medical history and test results. Given this strong association, multitask learning (MTL) can offer a compelling framework to simultaneously model these relationships, integrating respiratory sound patterns with disease manifestations. While MTL has shown considerable promise in medical applications, a significant research gap remains in understanding the complex interplay between respiratory sounds, disease manifestations, and patient metadata attributes. This study investigates how integrating MTL with cutting-edge deep learning architectures can enhance both respiratory sound classification and disease diagnosis. Specifically, we extend recent findings regarding the beneficial impact of metadata on respiratory sound classification by evaluating its effectiveness within an MTL framework. Our comprehensive experiments reveal significant improvements in both lung sound classification and diagnostic performance when the stethoscope information is incorporated into the MTL architecture.