Medical Diagnosis

Capsule endoscopy (CE) enables non-invasive gastrointestinal screening, but current CE research remains largely limited to frame-level classification and detection, leaving video-level analysis underexplored. To bridge this gap, we introduce and formally define a new task, diagnosis-driven CE video summarization, which requires extracting key evidence frames that covers clinically meaningful findings and making accurate diagnoses from those evidence frames. This setting is challenging because diagnostically relevant events are extremely sparse and can be overwhelmed by tens of thousands of redundant normal frames, while individual observations are often ambiguous due to motion blur, debris, specular highlights, and rapid viewpoint changes. To facilitate research in this direction, we introduce VideoCAP, the first CE dataset with diagnosis-driven annotations derived from real clinical reports. VideoCAP comprises 240 full-length videos and provides realistic supervision for both key evidence frame extraction and diagnosis. To address this task, we further propose DiCE, a clinician-inspired framework that mirrors the standard CE reading workflow. DiCE first performs efficient candidate screening over the raw video, then uses a Context Weaver to organize candidates into coherent diagnostic contexts that preserve distinct lesion events, and an Evidence Converger to aggregate multi-frame evidence within each context into robust clip-level judgments. Experiments show that DiCE consistently outperforms state-of-the-art methods, producing concise and clinically reliable diagnostic summaries. These results highlight diagnosis-driven contextual reasoning as a promising paradigm for ultra-long CE video summarization.

Linear models are widely used in computational neuroimaging to identify biomarkers associated with brain pathologies. However, interpreting the learned weights remains challenging, as they do not always yield clinically meaningful insights. This difficulty arises in part from the inherent correlation between brain regions, which causes linear weights to reflect shared rather than region-specific contributions. In particular, some groups of regions, including homologous structures in the left and right hemispheres, are known to exhibit strong anatomical correlations. In this work, we leverage this prior neuroanatomical knowledge to introduce a whitening approach applied to groups of regions with known shared variance, designed to disentangle overlapping information across correlated brain measures. We additionally propose a regularized variant that allows controlled tuning of the degree of decorrelation. We evaluate this method using region-of-interest features in two psychiatric classification tasks, distinguishing individuals with bipolar disorder or schizophrenia from healthy controls. Importantly, unlike PCA or ICA which use whitening as a dimensionality reduction step, our approach decorrelates anatomically informed pairs of neuroanatomical regions while retaining the full input signal, making it specifically suited for feature interpretation rather than feature selection. Our findings demonstrate that whitening improves the interpretability of model weights while preserving predictive performance, providing a robust framework for linking linear model outputs to neurobiological mechanisms.

Despite significant progress in Multi-modal Large Language Models (MLLMs), their clinical reasoning capacity for multi-modal diagnosis remains largely unexamined. Current benchmarks, mostly single-modality data, can't evaluate progressive reasoning and cross-modal integration essential for clinical practice. We introduce the Cross-Modality Progressive Clinical Reasoning (X-PCR) benchmark, the first comprehensive evaluation of MLLMs through a complete ophthalmology diagnostic workflow, with two reasoning tasks: 1) a six-stage progressive reasoning chain spanning image quality assessment to clinical decision-making, and 2) a cross-modality reasoning task integrating six imaging modalities. The benchmark comprises 26,415 images and 177,868 expert-verified VQA pairs curated from 51 public datasets, covering 52 ophthalmic diseases. Evaluation of 21 MLLMs reveals critical gaps in progressive reasoning and cross-modal integration. Dataset and code: https://github.com/CVI-SZU/X-PCR.

Background: Osteoporosis and osteopenia are often undiagnosed until fragility fractures occur. Dual-energy X-ray absorptiometry (DXA) is the reference standard for bone mineral density (BMD) assessment, but access remains limited. Knee radiographs are obtained at high volume for osteoarthritis evaluation and may offer an opportunity for opportunistic bone-loss screening. Objective: To develop and evaluate a multi-task deep learning system for opportunistic bone-loss screening from routine knee radiographs without additional imaging or patient visits. Methods: We developed STR-Net, a multi-task framework for single-channel grayscale knee radiographs. The model includes a shared backbone, global average pooling feature aggregation, a shared neck, and a task-aware representation routing module connected to three task-specific heads: binary screening (Normal vs. Bone Loss), severity sub-classification (Osteopenia vs. Osteoporosis), and weakly coupled T-score regression with optional clinical variables. A sensitivity-constrained threshold optimization strategy (minimum sensitivity >= 0.86) was applied. The dataset included 1,570 knee radiographs, split at the patient level into training (n=1,120), validation (n=226), and test (n=224) sets. Results: On the held-out test set, STR-Net achieved an AUROC of 0.933, sensitivity of 0.904, specificity of 0.773, and AUPRC of 0.956 for binary screening. Severity sub-classification achieved an AUROC of 0.898. The T-score regression branch showed a Pearson correlation of 0.801 with DXA-measured T-scores in a pilot subset (n=31), with MAE of 0.279 and RMSE of 0.347. Conclusions: STR-Net enables single-pass bone-loss screening, severity stratification, and quantitative T-score estimation from routine knee radiographs. Prospective clinical validation is needed before deployment.

Assessing chronic wound infection from photographs is challenging because visual appearance varies across wound etiologies, anatomical locations, and imaging conditions. Prior image-based deep learning methods have mainly focused on classification with limited interpretability, despite the need for evidence-grounded explanations to support point-of-care decision making. We present Infection-Reasoner, a compact 4B-parameter reasoning vision-language model for chronic wound infection classification and rationale generation. To address the scarcity of expert-labeled wound images with reasoning annotations, Infection-Reasoner is trained using a two-stage pipeline: (1) reasoning distillation, in which GPT-5.1 generates chain-of-thought rationales for unlabeled wound images to initialize wound-specific reasoning in a smaller student model (Qwen3-VL-4B-Thinking), and (2) reinforcement learning post-training with Group Relative Policy Optimization on a small labeled infection dataset to refine classification reasoning. On a held-out heterogeneous wound dataset, Infection-Reasoner achieved 86.8% accuracy, 86.4% sensitivity, and 87.1% specificity, outperforming several strong baselines, including GPT-5.1. Rationale quality was further evaluated using both multimodal large language model (MLLM) judges and wound expert review. Across four MLLM judges, visual-support agreement scores ranged from 0.722 to 0.903, while expert review rated 61.8% of rationales as Correct and 32.4% as Partially Correct.

Parkinson's disease (PD) is a chronic neurodegenerative disease. It shows multiple motor symptoms such as tremor, bradykinesia, postural instability, freezing of gait (FoG). PD is currently diagnosed clinically through physical exam by health-care professionals, which can be time consuming and highly subjective. Wearable IMU sensors has become a promising gateway for passive monitoring of PD patients. We propose a self-supervised cross-attention encoder that processes bilateral wrist-worn IMU signals from a public dataset called PADS, consisting of three groups, PD (Parkinson Disease), HC (Healthy Control) and DD (Differential Diagnosis) of a total of 469 subjects. We have achieved a mean accuracy of 93.12% for HC vs. PD classification and 87.04% for PD vs. DD classification. The results emphasize the clinical challenge of distinguishing Parkinson's from other neurodegenerative diseases. Self-supervised representation learning using contrastive infoNCE loss gained an accuracy of 93.56% for HC vs. PD and 92.50% for PD vs. DD using only 20% of labelled data. This demonstrates the effectiveness of our method in transfer learning for clinical use with minimal labels. The real-time applicability was tested by deploying the optimized model with a mean inference time of 48.32 ms per window on a Raspberry Pi CPU.

Privacy represents one of the most critical yet underaddressed barriers to AI adoption in mental healthcare -- particularly in high-sensitivity operational environments such as military, correctional, and remote healthcare settings, where the risk of patient data exposure can deter help-seeking behavior entirely. Existing AI-enabled psychiatric decision support systems predominantly rely on cloud-based inference pipelines, requiring sensitive patient data to leave the device and traverse external servers, creating unacceptable privacy and security risks in these contexts. In this paper, we propose a zero-egress, on-device AI platform for privacy-preserving psychiatric decision support, deployed as a cross-platform mobile application. The proposed system extends our prior work on fine-tuned LLM consortiums for psychiatric diagnosis standardization by fundamentally re-architecting the inference pipeline for fully local execution -- ensuring that no patient data is transmitted to, processed by, or stored on any external server at any stage. The platform integrates a consortium of three lightweight, fine-tuned, and quantized open-source LLMs -- Gemma, Phi-3.5-mini, and Qwen2 -- selected for their compact architectures and proven efficiency on resource-constrained mobile hardware. An on-device orchestration layer coordinates ensemble inference and consensus-based diagnostic reasoning, producing DSM-5-aligned assessments for conditions. The platform is designed to assist clinicians with differential diagnosis and evidence-linked symptom mapping, as well as to support patient-facing self-screening with appropriate clinical safeguards. Initial evaluation demonstrates that the proposed zero-egress deployment achieves diagnostic accuracy comparable to its server-side predecessor while sustaining real-time inference latency on commodity mobile hardware.

Rabies remains a major public health concern across many African and Asian countries, where accurate diagnosis is critical for effective epidemiological surveillance. The gold standard diagnostic methods rely heavily on fluorescence microscopy, necessitating skilled laboratory personnel for the accurate interpretation of results. Such expertise is often scarce, particularly in regions with low annual sample volumes. This paper presents an automated, AI-driven diagnostic system designed to address these challenges. We developed a robust pipeline utilizing fluorescent image analysis through transfer learning with four deep learning architectures: EfficientNetB0, EfficientNetB2, VGG16, and Vision Transformer (ViTB16). Three distinct data augmentation strategies were evaluated to enhance model generalization on a dataset of 155 microscopic images (123 positive and 32 negative). Our results demonstrate that TrivialAugmentWide was the most effective augmentation technique, as it preserved critical fluorescent patterns while improving model robustness. The EfficientNetB0 model, utilizing Geometric & Color augmentation and selected through stratified 3fold cross-validation, achieved optimal classification performance on cropped images. Despite constraints posed by class imbalance and a limited dataset size, this work confirms the viability of deep learning for automating rabies diagnosis. The proposed method enables fast and reliable detection with significant potential for further optimization. An online tool was deployed to facilitate practical access, establishing a framework for future medical imaging applications. This research underscores the potential of optimized deep learning models to transform rabies diagnostics and improve public health outcomes.

We introduce Sonata, a compact latent world model for six-axis trunk IMU representation learning under clinical data scarcity. Clinical cohorts typically comprise tens to hundreds of patients, making web-scale masked-reconstruction objectives poorly matched to the problem. Sonata is a 3.77 M-parameter hybrid model, pre-trained on a harmonised corpus of nine public datasets (739 subjects, 190k windows) with a latent world-model objective that predicts future state rather than reconstructing raw sensor traces. In a controlled comparison against a matched autoregressive forecasting baseline (MAE) on the same backbone, Sonata yields consistently stronger frozen-probe clinical discrimination, prospective fall-risk prediction, and cross-cohort transfer across a 14-arm evaluation suite, while producing higher-rank, more structured latent representations. At 3.77 M parameters the model is compatible with on-device wearable inference, offering a step toward general kinematic world models for neurological assessment.

Large language models (LLMs) are increasingly used in clinical settings, raising concerns about racial bias in both generated medical text and clinical reasoning. Existing studies have identified bias in medical LLMs, but many focus on single models and give less attention to mitigation. This study uses the EU AI Act as a governance lens to evaluate five widely used LLMs across two tasks, namely synthetic patient-case generation and differential diagnosis ranking. Using race-stratified epidemiological distributions in the United States and expert differential diagnosis lists as benchmarks, we apply structured prompt templates and a two-part evaluation design to examine implicit and explicit racial bias. All models deviated from observed racial distributions in the synthetic case generation task, with GPT-4.1 showing the smallest overall deviation. In the differential diagnosis task, DeepSeek V3 produced the strongest overall results across the reported metrics. When embedded in an agentic workflow, DeepSeek V3 showed an improvement of 0.0348 in mean p-value, 0.1166 in median p-value, and 0.0949 in mean difference relative to the standalone model, although improvement was not uniform across every metric. These findings support multi-metric bias evaluation for AI systems used in medical settings and suggest that retrieval-based agentic workflows may reduce some forms of explicit bias in benchmarked diagnostic tasks. Detailed prompt templates, experimental datasets, and code pipelines are available on our GitHub.

Neurobiological and neurodegenerative diseases are inherently multifactorial, arising from coupled influences spanning genetic susceptibility, brain alterations, and environmental and behavioral factors. Multimodal modeling has therefore been increasingly adopted for disease diagnosis by integrating complementary evidence across data sources. However, in both large-scale cohorts and real-world clinical workflows, modality coverage is often incomplete, making many multimodal models brittle when one or more modalities are unavailable. Existing approaches to incomplete multimodal diagnosis typically rely on group-wise or static priors, which may fail to capture subject-specific cross-modal dependencies; moreover, many models provide limited interpretability into which evidence sources drive the final decision. To address these limitations, we propose Conditional Evidence Reconstruction and Decomposition (CERD), a framework for interpretable multimodal diagnosis with incomplete modalities. CERD first reconstructs missing modality representations conditioned on each subject's observed inputs, then decomposes diagnostic evidence into shared cross-modal corroboration and modality-specific cues via logit-level attribution. Experiments on the Alzheimer's Disease Neuroimaging Initiative (ADNI) demonstrate that CERD outperforms competitive baselines under incomplete-modality settings while producing structured and clinically aligned evidence attributions for trustworthy decision support.

Background: Large language models (LLMs) are increasingly proposed for diagnostic support, but few evaluations use real-world multimodal inpatient data, particularly in low and middle-income country (LMIC) public hospitals. Methods: We conducted VALID, a retrospective evaluation of 539 multimodal inpatient cases from a tertiary public hospital in South Africa. Inputs included radiology imaging (CT, MRI, CXR) and reports, laboratory results, clinical notes, and vital signs. Expert panels adjudicated 300 cases (balanced and discordant subsets) to establish ground truth diagnoses, differentials, and reasoning. Ten multimodal LLMs generated zero-shot outputs. A calibrated three-model LLM Jury scored all outputs and routine ward diagnoses across diagnostic accuracy, differential quality, reasoning, and patient safety (>10,000 evaluations). Primary outcomes were composite scores ($S_3$, $S_4$) and win rates. Results: (i) LLM performance was tightly clustered (<15% variation) despite large cost differences; low-cost models performed comparably to top models. (ii) All LLMs significantly outperformed routine ward diagnoses on average diagnostic and safety scores. (iii) Top performance was achieved by GPT-5.1, followed by Gemini models. (vi) Adding radiology reports improved performance by 6%. (v) Diagnostic and reasoning scores were highly correlated ($ρ= 0.85$). (vi) Output rates varied (65-100%) due to input constraints. Results were robust across subsets and evaluation design. Conclusions: Across a real-world LMIC dataset, multimodal LLMs showed similar diagnostic performance despite large cost differences and outperformed routine care on average safety metrics. Affordability, robustness, and deployment constraints may outweigh marginal performance differences in LMIC settings.

Chronic rhinosinusitis (CRS) is a common heterogeneous inflammatory disorder that causes substantial morbidity and healthcare costs. CRS is difficult to identify early from routine encounters, as symptom presentations overlap with common conditions such as allergic rhinitis, and heterogeneous phenotypes further obscure risk patterns. Prior predictive studies often rely on single-institutional cohorts , which reduce population-level generalizability. To overcome this, we leveraged nationwide longitudinal EHR data from the All of Us Research Program to predict CRS diagnosis using two years of pre-diagnostic history. To address extreme feature sparsity and dimensionality in coded EHR data, we implemented a hybrid feature-selection pipeline that combines prevalence-based statistical screening with model-based importance ranking, compressing approximately 110,000 candidate codes into 100 interpretable features. To capture demographic heterogeneity, we trained demographic stratified models across six adult sex and life-stage subgroups with subgroup-specific hyperparameter tuning. Our framework achieved an overall AUC of 0.8461, improving discrimination by 0.0168 over the best baseline. These results demonstrate that routinely collected EHR data may support population-representative CRS risk stratification and inform earlier triage and referral prioritization in primary care.

Hybrid Quantum Neural Networks (HQNNs) have recently emerged as a promising paradigm for near-term quantum machine learning. However, their practical performance strongly depends on design choices such as classical-to-quantum data encoding, quantum circuit architecture, measurement strategy and shots. In this paper, we present a comprehensive design space exploration of HQNNs for Chronic Kidney Disease (CKD) diagnosis. Using a carefully curated and preprocessed clinical dataset, we benchmark 625 different HQNN models obtained by combining five encoding schemes, five entanglement architectures, five measurement strategies, and five different shot settings. To ensure fair and robust evaluation, all models are trained using 10-fold stratified cross-validation and assessed on a test set using a comprehensive set of metrics, including accuracy, area under the curve (AUC), F1-score, and a composite performance score. Our results reveal strong and non-trivial interactions between encoding choices and circuit architectures, showing that high performance does not necessarily require large parameter counts or complex circuits. In particular, we find that compact architectures combined with appropriate encodings (e.g., IQP with Ring entanglement) can achieve the best trade-off between accuracy, robustness, and efficiency. Beyond absolute performance analysis, we also provide actionable insights into how different design dimensions influence learning behavior in HQNNs.

While deep learning has advanced automated glaucoma screening via color fundus photography, existing purely data-driven models often overfit to confounding imaging artifacts and struggle to capture unpredictable pathological cues located beyond predefined anatomical boundaries. To address these limitations, we propose a retinal knowledge-oriented framework that synergizes dynamic multi-scale feature learning with domain-specific anatomical priors. The proposed architecture adopts a tri-branch structure to jointly model the global retinal context, the structural characteristics of the optic cup and disc, and dynamically cropped pathological regions. Specifically, we devise a Dynamic Window Mechanism (DWM) that adaptively discovers diagnostically informative patches via image-level supervision. Furthermore, we introduce a Knowledge-Enhanced Convolutional Block Attention Module (KE-CBAM) that explicitly incorporates retinal priors from a pre-trained foundation model RETFound to guide spatial attention, preventing the network from assigning spurious weights to irrelevant background noise. Extensive evaluations on the large-scale AIROGS dataset demonstrate that our method achieves a state-of-the-art AUC of $98.5\%$ and an accuracy of $94.6\%$. More importantly, the integration of anatomical priors effectively mitigates the inherent class imbalance, significantly improving the detection of referable glaucoma cases. Additional validations on the SMDG-19 benchmark further confirm its superior cross-domain generalization, indicating that our contribution provides a robust, interpretable, and scalable solution for real-world clinical glaucoma diagnosis. Our code is available at https://github.com/magiczhuo/Glaucoma-Detection

The identification of reliable molecular biomarkers for Parkinson's disease remains challenging due to its multifactorial nature. Although protein sequences constitute a fundamental and widely available source of biological information, their standalone discriminative capacity for complex disease classification remains unclear. In this work, we present a controlled and leakage-free evaluation of multiple representations derived exclusively from protein primary sequences, including amino acid composition, k-mers, physicochemical descriptors, hybrid representations, and embeddings from protein language models, all assessed under a nested stratified cross-validation framework to ensure unbiased performance estimation. The best-performing configuration (ProtBERT + MLP) achieves an F1-score of 0.704 +/- 0.028 and ROC-AUC of 0.748 +/- 0.047, indicating only moderate discriminative performance. Classical representations such as k-mers reach comparable F1 values (up to approximately 0.667), but exhibit highly imbalanced behavior, with recall close to 0.98 and precision around 0.50, reflecting a strong bias toward positive predictions. Across representations, performance differences remain within a narrow range (F1 between 0.60 and 0.70), while unsupervised analyses reveal no intrinsic structure aligned with class labels, and statistical testing (Friedman test, p = 0.1749) does not indicate significant differences across models. These results demonstrate substantial overlap between classes and indicate that primary sequence information alone provides limited discriminative power for Parkinson's disease classification. This work establishes a reproducible baseline and provides empirical evidence that more informative biological features, such as structural, functional, or interaction-based descriptors, are required for robust disease modeling.

Machine learning for tabular data remains constrained by poor schema generalization, a challenge rooted in the lack of semantic understanding of structured variables. This challenge is particularly acute in domains like clinical medicine, where electronic health record (EHR) schemas vary significantly. To solve this problem, we propose Schema-Adaptive Tabular Representation Learning, a novel method that leverages large language models (LLMs) to create transferable tabular embeddings. By transforming structured variables into semantic natural language statements and encoding them with a pretrained LLM, our approach enables zero-shot alignment across unseen schemas without manual feature engineering or retraining. We integrate our encoder into a multimodal framework for dementia diagnosis, combining tabular and MRI data. Experiments on NACC and ADNI datasets demonstrate state-of-the-art performance and successful zero-shot transfer to unseen schemas, significantly outperforming clinical baselines, including board-certified neurologists, in retrospective diagnostic tasks. These results validate our LLM-driven approach as a scalable, robust solution for heterogeneous real-world data, offering a pathway to extend LLM-based reasoning to structured domains.

Despite recent advancements in the field of medical image analysis with the use of pretrained foundation models, the issue of distribution shifts between cross-source images largely remains adamant. To circumvent that issue, investigators generally train a separate model for each source. However, this method becomes expensive when we fully fine-tune pretrained large models for a single dataset, as we must store multiple copies of those models. Thus, in this work, we propose using a low-rank adaptation (LoRA) module for fine-tuning downstream classification tasks. LoRAs learn lightweight task-specific low-rank matrices that perturb pretrained weights to optimize those downstream tasks. For gastrointestinal tract diseases, they exhibit significantly better results than end-to-end finetuning with improved parameter efficiency. Code is available at: github.com/sanjay931/peft-gi-recognition.

Valid segmentation of the optic disc (OD) and optic cup (OC) from fundus photographs is essential for glaucoma screening. Unfortunately, existing deep learning methods do not guarantee clinical validness including star-convexity and nested structure of OD and OC, resulting corruption in diagnostic metric, especially under cross-dataset domain shift. To adress this issue, this paper proposed NPS-Net (Nested Polar Shape Network), the first framework that formulates the OD/OC segmentation as nested radially monotone polar occupancy estimation.This output representation can guarantee the aforementioned clinical validness and achieve high accuracy. Evaluated across seven public datasets, NPS-Net shows strong zero-shot generalization. On RIM-ONE, it maintains 100% anatomical validity and improves Cup Dice by 12.8% absolute over the best baseline, reducing vCDR MAE by over 56%. On PAPILA, it achieves Disc Dice of 0.9438 and Disc HD95 of 2.78 px, an 83% reduction over the best competing method.

Clinical expertise improves not only by acquiring medical knowledge, but by accumulating experience that yields reusable diagnostic patterns. Recent LLMs-based diagnostic agents have shown promising progress in clinical reasoning for decision support. However, most approaches treat cases independently, limiting experience reuse and continual adaptation. We propose SEA, a self-learning diagnostic agent with cognitively inspired dual-memory module. We design a reinforcement training framework tailored to our designed agent for joint optimization of reasoning and memory management. We evaluate SEA in two complementary settings. On standard evaluation with MedCaseReasoning dataset, SEA achieves 92.46% accuracy, outperforming the strongest baseline by +19.6%, demonstrating the benefit of jointly optimizing reasoning and memory. On the long-horizon with ER-Reason dataset, SEA attains the best final accuracy (0.7214) and the largest improvement (+0.35 Acc@100), while baseline methods show limited or unstable gains. Expert evaluation further indicates that rules consolidated from SEA show strong clinical correctness, usefulness and trust, suggesting that the induced rules in dual-memory module are reliable and practically meaningful. Overall, SEA improves both diagnostic reasoning ability and continual learning by effectively transforming experience into reusable knowledge.

Kidney stone disease ranks among the most prevalent conditions in urology, and understanding the composition of these stones is essential for creating personalized treatment plans and preventing recurrence. Current methods for analyzing kidney stones depend on postoperative specimens, which prevents rapid classification before surgery. To overcome this limitation, we introduce a new approach called the Urinary Stone Segmentation and Classification Network (USCNet). This innovative method allows for precise preoperative classification of kidney stones by integrating Computed Tomography (CT) images with clinical data from Electronic Health Records (EHR). USCNet employs a Transformer-based multimodal fusion framework with CT-EHR attention and segmentation-guided attention modules for accurate classification. Moreover, a dynamic loss function is introduced to effectively balance the dual objectives of segmentation and classification. Experiments on an in-house kidney stone dataset show that USCNet demonstrates outstanding performance across all evaluation metrics, with its classification efficacy significantly surpassing existing mainstream methods. This study presents a promising solution for the precise preoperative classification of kidney stones, offering substantial clinical benefits. The source code has been made publicly available: https://github.com/ZhangSongqi0506/KidneyStone.

Gastrointestinal diseases impose a growing global health burden, and endoscopy is a primary tool for early diagnosis. However, routine endoscopic image interpretation still suffers from missed lesions and limited efficiency. Although AI-assisted diagnosis has shown promise, existing models often lack generalizability, adaptability, robustness, and scalability because of limited medical data, domain shift, and heterogeneous annotations. To address these challenges, we develop RATNet, a foundation model for gastrointestinal endoscopy imaging based on analogical reasoning. RATNet acquires and transfers knowledge from heterogeneous expert annotations across five gastrointestinal endoscopy datasets through a cyclic pre-training strategy. Its architecture consists of an encoder, a relevance-knowledge acquisition and transfer (RAT) module, a projector, and a multi-task head, and supports fine-tuning, linear probing, and zero-shot transfer. Evaluations show that RATNet outperforms existing foundation models, including GastroNet and GastroVision, across six scenarios: diagnosis of common gastrointestinal diseases, few-shot learning for rare diseases, zero-shot transfer to new medical sites, robustness under long-tailed disease distributions, adaptation to novel diseases, and privacy-preserving deployment via federated learning. Its advantage comes from an analogical reasoning mechanism that matches image-derived posterior knowledge to a learned prior knowledge base and transfers relative knowledge to guide diagnosis, improving generalization and resistance to bias. RATNet is open and cost-effective, supports automatic integration of heterogeneous annotations without manual label unification, and reduces data acquisition costs, making it a practical foundation for intelligent gastrointestinal diagnosis, especially in resource-limited settings.

Clinical diagnosis requires sequential evidence acquisition under uncertainty. However, most Large Language Model (LLM) based diagnostic systems assume fully observed patient information and therefore do not explicitly model how clinical evidence should be sequentially acquired over time. Even when diagnosis is formulated as a sequential decision process, it is still challenging to learn effective diagnostic trajectories. This is because the space of possible evidence-acquisition paths is relatively large, while clinical datasets rarely provide explicit supervision information for desirable diagnostic paths. To this end, we formulate sequential diagnosis as a Latent Diagnostic Trajectory Learning (LDTL) framework based on a planning LLM agent and a diagnostic LLM agent. For the diagnostic LLM agent, diagnostic action sequences are treated as latent paths and we introduce a posterior distribution that prioritizes trajectories providing more diagnostic information. The planning LLM agent is then trained to follow this distribution, encouraging coherent diagnostic trajectories that progressively reduce uncertainty. Experiments on the MIMIC-CDM benchmark demonstrate that our proposed LDTL framework outperforms existing baselines in diagnostic accuracy under a sequential clinical diagnosis setting, while requiring fewer diagnostic tests. Furthermore, ablation studies highlight the critical role of trajectory-level posterior alignment in achieving these improvements.

Large language models (LLMs) achieve high accuracy in medical diagnosis when all clinical information is provided in a single turn, yet how they behave under multi-turn evidence accumulation closer to real clinical reasoning remains unexplored. We introduce MINT (Medical Incremental N-Turn Benchmark), a high-fidelity, multi-turn medical diagnosis benchmark comprising 1,035 cases with clinically labeled evidence shards, controlled turn granularity, and information-preserving decomposition. Through systematic evaluation of 11 LLMs on MINT, we uncover three persistent behavioral patterns that significantly impact diagnostic decisions: (1) intent to answer, models rush to answer before sufficient evidence has been observed, with over 55% of answers committed within the first two turns; (2) self-correction, incorrect-to-correct answer revisions occur at up to 10.6 times the rate of correct-to-incorrect flips, revealing a latent capacity for self-correction that premature commitment forecloses; and (3) strong lures, clinically salient information such as laboratory results trigger premature answering even when models are explicitly instructed to wait. We translate these findings into clinically actionable guidance: deferring the diagnostic question to later turns reduces premature answering and improves accuracy at the first point of commitment by up to 62.6%, while reserving salient clinical evidence for later turns prevents a catastrophic accuracy drop of up to 23.3% caused by premature commitment. Our work provides both a controlled evaluation framework and concrete recommendations for improving the reliability of LLMs in multi-turn medical diagnosis.

Cardiac magnetic resonance (CMR) is a cornerstone for diagnosing cardiovascular disease. However, it remains underutilized due to complex, time-consuming interpretation across multi-sequences, phases, quantitative measures that heavily reliant on specialized expertise. Here, we present BAAI Cardiac Agent, a multimodal intelligent system designed for end-to-end CMR interpretation. The agent integrates specialized cardiac expert models to perform automated segmentation of cardiac structures, functional quantification, tissue characterization and disease diagnosis, and generates structured clinical reports within a unified workflow. Evaluated on CMR datasets from two hospitals (2413 patients) spanning 7-types of major cardiovascular diseases, the agent achieved an area under the receiver-operating-characteristic curve exceeding 0.93 internally and 0.81 externally. In the task of estimating left ventricular function indices, the results generated by this system for core parameters such as ejection fraction, stroke volume, and left ventricular mass are highly consistent with clinical reports, with Pearson correlation coefficients all exceeding 0.90. The agent outperformed state-of-the-art models in segmentation and diagnostic tasks, and generated clinical reports showing high concordance with expert radiologists (six readers across three experience levels). By dynamically orchestrating expert models for coordinated multimodal analysis, this agent framework enables accurate, efficient CMR interpretation and highlights its potentials for complex clinical imaging workflows. Code is available at https://github.com/plantain-herb/Cardiac-Agent.

Lumbar Spinal Stenosis (LSS) diagnosis remains a critical clinical challenge, with diagnosis heavily dependent on labor-intensive manual interpretation of multi-view Magnetic Resonance Imaging (MRI), leading to substantial inter-observer variability and diagnostic delays. Existing vision-language models simultaneously fail to address the extreme class imbalance prevalent in clinical segmentation datasets while preserving spatial accuracy, primarily due to global pooling mechanisms that discard crucial anatomical hierarchies. We present an end-to-end Explainable Vision-Language Model framework designed to overcome these limitations, achieved through two principal objectives. We propose a Spatial Patch Cross-Attention module that enables precise, text-directed localization of spinal anomalies with spatial precision. A novel Adaptive PID-Tversky Loss function by integrating control theory principles dynamically further modifies training penalties to specifically address difficult, under-segmented minority instances. By incorporating foundational VLMs alongside an Automated Radiology Report Generation module, our framework demonstrates considerable performance: a diagnostic classification accuracy of 90.69%, a macro-averaged Dice score of 0.9512 for segmentation, and a CIDEr score of 92.80%. Furthermore, the framework shows explainability by converting complex segmentation predictions into radiologist-style clinical reports, thereby establishing a new benchmark for transparent, interpretable AI in clinical medical imaging that keeps essential human supervision while enhancing diagnostic capabilities.

Transfer learning (TL) and deep ensemble learning (DE) have recently been shown to outperform simple machine learning in classifying psychiatric disorders. However, there is still a lack of understanding as to why that is. This paper aims to understand how and why DE and TL reduce the variability of single-subject classification models in bipolar disorder (BD) and schizophrenia (SCZ). To this end, we investigated the training stability of TL and DE models. For the two classification tasks under consideration, we compared the results of multiple trainings with the same backbone but with different initializations. In this way, we take into account the epistemic uncertainty associated with the uncertainty in the estimation of the model parameters. It has been shown that the performance of classifiers can be significantly improved by using TL with DE. Based on these results, we investigate i) how many models are needed to benefit from the performance improvement of DE when classifying BD and SCZ from healthy controls, and ii) how TL induces better generalization, with and without DE. In the first case, we show that DE reaches a plateau when 10 models are included in the ensemble. In the second case, we find that using a pre-trained model constrains TL models with the same pre-training to stay in the same basin of the loss function. This is not the case for DL models with randomly initialized weights.

The clinical burden of spleen-stomach disorders is substantial. While large language models (LLMs) offer new potential for medical applications, they face three major challenges in the context of integrative Chinese and Western medicine (ICWM): a lack of high-quality data, the absence of models capable of effectively integrating the reasoning logic of traditional Chinese medicine (TCM) syndrome differentiation with that of Western medical (WM) disease diagnosis, and the shortage of a standardized evaluation benchmark. To address these interrelated challenges, we propose DongYuan, an ICWM spleen-stomach diagnostic framework. Specifically, three ICWM datasets (SSDF-Syndrome, SSDF-Dialogue, and SSDF-PD) were curated to fill the gap in high-quality data for spleen-stomach disorders. We then developed SSDF-Core, a core diagnostic LLM that acquires robust ICWM reasoning capabilities through a two-stage training regimen of supervised fine-tuning. tuning (SFT) and direct preference optimization (DPO), and complemented it with SSDF-Navigator, a pluggable consultation navigation model designed to optimize clinical inquiry strategies. Additionally, we established SSDF-Bench, a comprehensive evaluation benchmark focused on ICWM diagnosis of spleen-stomach disorders. Experimental results demonstrate that SSDF-Core significantly outperforms 12 mainstream baselines on SSDF-Bench. DongYuan lays a solid methodological foundation and provides practical technical references for the future development of intelligent ICWM diagnostic systems.

Clinical diagnosis is a complex reasoning process in which clinicians gather evidence, form hypotheses, and test them against alternative explanations. In medical training, this reasoning is explicitly developed through counterfactual questioning--e.g., asking how a diagnosis would change if a key symptom were absent or altered--to strengthen differential diagnosis skills. As large language model (LLM)-based systems are increasingly used for diagnostic support, ensuring the interpretability of their recommendations becomes critical. However, most existing LLM-based diagnostic agents reason over fixed clinical evidence without explicitly testing how individual findings support or weaken competing diagnoses. In this work, we propose a counterfactual multi-agent diagnostic framework inspired by clinician training that makes hypothesis testing explicit and evidence-grounded. Our framework introduces counterfactual case editing to modify clinical findings and evaluate how these changes affect competing diagnoses. We further define the Counterfactual Probability Gap, a method that quantifies how strongly individual findings support a diagnosis by measuring confidence shifts under these edits. These counterfactual signals guide multi-round specialist discussions, enabling agents to challenge unsupported hypotheses, refine differential diagnoses, and produce more interpretable reasoning trajectories. Across three diagnostic benchmarks and seven LLMs, our method consistently improves diagnostic accuracy over prompting and prior multi-agent baselines, with the largest gains observed in complex and ambiguous cases. Human evaluation further indicates that our framework produces more clinically useful, reliable, and coherent reasoning. These results suggest that incorporating counterfactual evidence verification is an important step toward building reliable AI systems for clinical decision support.

Cervical dystonia (CD) is the most common form of dystonia, yet current assessment relies on subjective clinical rating scales, such as the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS), which requires expertise, is subjective and faces low inter-rater reliability some items of the score. To address the lack of established objective tools for monitoring disease severity and treatment response, this study validates an automated image-based head pose and shift estimation system for patients with CD. We developed an assessment tool that combines a pretrained head-pose estimation algorithm for rotational symptoms with a deep learning model trained exclusively on ~16,000 synthetic avatar images to evaluate rare translational symptoms, specifically lateral shift. This synthetic data approach overcomes the scarcity of clinical training examples. The system's performance was validated in a multicenter study by comparing its predicted scores against the consensus ratings of 20 clinical experts using a dataset of 100 real patient images and 100 labeled synthetic avatars. The automated system demonstrated strong agreement with expert clinical ratings for rotational symptoms, achieving high correlations for torticollis (r=0.91), laterocollis (r=0.81), and anteroretrocollis (r=0.78). For lateral shift, the tool achieved a moderate correlation (r=0.55) with clinical ratings and demonstrated higher accuracy than human raters in controlled benchmark tests on avatars. By leveraging synthetic training data to bridge the clinical data gap, this model successfully generalizes to real-world patients, providing a validated, objective tool for CD postural assessment that can enable standardized clinical decision-making and trial evaluation.