Medical Diagnosis
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21 papers in the last four weeks, up 320% on the four weeks before. 0.2% of all new papers.
Latest papers 168
Clinical audio diagnosis in low-resource settings requires models that identify conditions from minimal examples without large annotated corpora. We propose Federated Self-Contextualization (FSC), a multimodal language model framework for in-context clinical audio diagnosis across federated hospital clients. FSC constructs pseudo-label episodes via unsupervised clustering of audio representations, bypassing scarce real diagnostic labels, and enables contextual reasoning from support-query pairs. Our progressive three-stage pipeline first aligns audio embeddings with the language model via caption-based pretraining, then adapts it for episodic in-context inference through federated optimization. At test time, given a small labeled support set, the model diagnoses an unseen query through multimodal reasoning. On held-out respiratory and cardiac conditions, FSC achieves 71.6% accuracy in 2-way 2-shot evaluation, outperforming audio-language baselines by over 9%.
Evo-RAD: Navigating Rare Retinal Disease Diagnosis via Self-Evolving Agentic Retrieval
Large-scale pretrained foundation models have revolutionized general medical screening, but often falter on rare diseases because such conditions are underrepresented in real-world clinical datasets. While retrieval-augmented diagnosis attempts to mitigate this, conventional static methods frequently succumb to the hubness problem, retrieving visually similar but semantically incorrect common diseases. To address this, we propose Evo-RAD, a self-evolving agentic framework that transforms evidence acquisition into a dynamic decision-making task. We formulate retrieval as a Markov Decision Process (MDP) where a graphbased agent observes the reference set state and executes actions to purge discordant evidence (DELETE), acquire pathologically consistent samples (INSERT), or conclude the evolution (TERMINATE). Optimized via Group Relative Policy Optimization (GRPO) with a homogeneityaware reward, the agent learns to maximize the diagnostic homogeneity of the support reference set. Experiments on retinal disease benchmarks show that Evo-RAD substantially improves rare-disease diagnosis, outperforming retinal foundation models by +21.04%, while also surpassing retrieval-based and parameter-efficient fine-tuning methods by +3.56%. Code is available at https://github.com/SDH-Lab/Evo-RAD.
Dementia-Agents: A Multi-Modal Multi-Agent System for Dementia Staging and Phenotyping
Dementia diagnosis requires integrating multi-modal clinical assessments from diverse informants and clinicians under incomplete and heterogeneous data conditions. Yet most AI-driven approaches remain Alzheimer's disease (AD)-centric, framing the problem as binary AD detection or three-stage AD progression modeling within well-curated research settings. This pathology-driven paradigm overlooks the broader, syndrome-level nature of dementia, which spans multiple stages, phenotypes, and etiologies. In this paper, we propose Dementia-Agents, a clinically aligned multi-agent framework for real-world dementia staging and phenotyping. The framework follows a three-step workflow: (1) a data agent translates structured clinical records into semantically faithful textual representations that preserve missing-data signals and routes them to domain-aligned experts; (2) five fine-tuned expert agents generate domain-level predictions; and (3) a coordinator agent performs probabilistic aggregation to produce final staging and phenotyping decisions. We develop and evaluate Dementia-Agents on a real-world clinical cohort of 1,066 patients from two cognitive neurology services. Compared with monolithic multi-modal large language models (MLLMs) and prior medical multi-agent systems, our approach achieves consistent improvements in diagnostic performance for real-world syndrome-level dementia staging and phenotyping, while preserving domain-level interpretability.
Alzheimer's Disease Diagnosis using a Multimodal Approach with 3D MRI and PET
Alzheimer's disease (AD) is an irreversible neurodegenerative disorder and a leading cause of death worldwide. Early diagnosis plays an important part especially at the Mild Cognitive Impairment stage, where timely intervention can help slow its progression before it advances to AD. Neuroimaging data, like Magnetic Resonance Imaging (MRI) and Positron Emission Tomography (PET) scans, can help detect brain changes early by providing structural and functional brain changes related to the disease. Yet, many multimodal models still fuse MRI and PET with static concatenation and apply identical computation to all subjects, which limits robustness to patient/site heterogeneity and can waste computation. To address these limitations, we present the first study of combining 3D convolutional feature extractors with three fusion strategies - concatenation, Gated Multimodal Unit (GMU), and gated self-attention - and a sparsely gated Mixture-of-Experts (MoE) classifier that performs input-adaptive routing, activating only the most informative experts per case. Finally, we utilize Grad-CAM to visualize disease-related regions, ensuring model interpretability. Experiments are performed across three binary classification tasks (NC vs. MCI, MCI vs. AD, and NC vs. AD). Results show that GMU achieves accuracies of 80.46 % (NC vs. MCI) and 95.47 % (NC vs. AD), while gated self-attention attains 82.08 % on MCI vs. AD. Ablations show that removing the MoE consistently degrades accuracy across all tasks. These findings underscore the value of input-adaptive, multimodal modeling for AD diagnosis by leveraging the complementary nature of MRI and PET.
Language Models as Interfaces, Not Oracles: A Hybrid LLM-ML System for Pediatric Appendicitis
Large language models (LLMs) can make clinical decision support more accessible by interpreting free-text documentation, but their direct use as diagnostic engines is limited by sensitivity to prompts, information order, and plausible but incorrect outputs. Structured machine-learning models offer more stable risk prediction, yet they require tabular inputs that are difficult to integrate with narrative clinical workflows. We present ClaMPAPP (Clinical Language-assisted Machine-learning Pipeline for Appendicitis), a hybrid system that uses an LLM as an interface rather than as the final decision-maker. ClaMPAPP extracts schema-constrained clinical features from note-like narratives, applies deterministic plausibility checks, and passes validated features to an XGBoost classifier trained on clinical, laboratory, and ultrasound variables. We evaluated ClaMPAPP on two independent pediatric appendicitis cohorts from German hospitals and compared it with end-to-end LLM baselines, including open-source and proprietary models. To preserve ground truth while testing free-text input, narratives were generated from structured electronic health records through template rendering and constrained LLM rewriting, with additional sentence-order permutation to assess positional robustness. ClaMPAPP achieved the strongest overall diagnostic performance in both internal and external validation while minimizing missed appendicitis cases, the key safety concern in acute triage. End-to-end LLMs showed unstable sensitivity-specificity trade-offs and greater degradation under narrative reordering. These results support an LLM-as-interface, ML-as-predictor design that separates natural-language usability from predictive inference and provides a more auditable pathway for clinical decision support.
When LLMs Analyze Scars: From Images to Clinically-Meaningful Features
Medical image classification faces a fundamental dilemma: while deep learning models achieve remarkable performance at scale, real-world clinical scenarios often suffer from severe data scarcity due to annotation costs, privacy constraints, and disease rarity. This challenge is particularly pronounced in pathological scar classification, where differentiating keloids from hypertrophic scars requires subtle expert knowledge and labeled images are extremely limited. We propose a novel paradigm that repositions large language models (LLMs) as knowledge-driven feature engineers rather than end-to-end classifiers. We call this framework ScaFE (Scar Feature Engineering). Our key insight is that LLMs encode rich medical knowledge that can be externalized as executable feature extraction code, enabling the transformation of high-dimensional images into low-dimensional, clinically interpretable representations. Specifically, we prompt an LLM with established scar assessment criteria to generate deterministic Python code that extracts features aligned with clinical scoring systems such as the Vancouver Scar Scale. Our approach offers three key advantages: (1) data efficiency, achieving robust performance with limited training samples by decoupling knowledge acquisition from statistical learning; (2) privacy preservation, as raw images are processed locally without exposure to external LLMs; and (3) interpretability, through explicit features grounded in clinical reasoning. Extensive experiments on scar classification demonstrate that our method consistently outperforms end-to-end deep learning baselines or using LLMs as black-box classifiers under limited data conditions, establishing a promising direction for integrating LLMs into data-efficient and clinically transparent medical AI systems.
DynFS-MoE: Dynamic Functional-Structural Mixture-of-Experts for Post-Traumatic Epilepsy Diagnosis
Post-traumatic epilepsy (PTE) is a severe complication of traumatic brain injury (TBI). Yet, early identification remains challenging due to the complex structural and functional alterations it induces in the brain. To address this, we propose a dynamic multimodal Mixture-of-Experts (MoE) framework that integrates functional and structural connectivity through time-aware functional-structural encoding and class-conditioned expert routing. Within this framework, modality-specific and cross-modal experts learn complementary representations, while a Modality-Class MoE (MCoE) module dynamically adjusts expert weights according to each classification objective. Experimental results across three binary classification tasks demonstrate that the framework consistently outperforms static fusion baselines, and high-interpretability analyses further reveal meaningful regions of interest (ROIs) interactions. This dynamic multimodal expert framework effectively captures class-dependent brain interaction patterns and provides an interpretable approach for PTE diagnosis and risk stratification.
NeoJaundice-AI: Smartphone-Based Neonatal Jaundice Detection Using Dual-Input Deep Learning and Synthetic Augmentation
Neonatal jaundice (hyperbilirubinemia) is one of the most common conditions affecting newborns worldwide, with India alone recording roughly 15 million cases per year. Early detection is critical, yet standard diagnosis requires blood tests that are often impractical in rural clinics where laboratory facilities are limited. This paper presents NeoJaundice-AI, a smartphone-based screening system that uses photographs of a baby's skin and sclera (eye white) to estimate jaundice severity and predict serum bilirubin levels in under three seconds without requiring internet connectivity. The proposed system is built on a dual-branch EfficientNet-B0 architecture that independently processes skin and sclera images. Deep features are fused with handcrafted YCbCr color statistics to jointly perform four-class severity classification and continuous bilirubin regression. A key contribution is a synthetic jaundice generation method that simulates bilirubin-induced yellowing through controlled YCbCr channel modifications on normal neonatal skin images. This approach addresses data scarcity, particularly for severe jaundice cases and darker Indian skin tones (Fitzpatrick Types IV to VI). In addition, a skin-tone normalization module improves prediction consistency across diverse neonatal complexions. Experimental results demonstrate an overall classification accuracy of 91.8 percent, a clinical sensitivity of 93.5 percent, and a bilirubin mean absolute error of 1.4 mg/dL. After INT8 quantization and ONNX conversion, the model size is reduced to 8.3 MB while maintaining inference times below three seconds on standard Android devices. To the best of our knowledge, this is the first India-focused neonatal jaundice AI system that combines multimodal image fusion, skin-tone adaptation, synthetic data augmentation, and fully offline mobile deployment within a single framework.
Towards Global AI-Driven Cervical Cancer Screening
The global elimination of cervical cancer is a key public health goal set by the World Health Organization (WHO), with screening programs reducing mortality by up to 80%. However, access to experts and biopsy services is limited in low- to middle-income countries (LMICs). Deep learning (DL)-based algorithms offer promising support for screening, but most existing approaches have been developed and validated on private datasets from single countries. We present the first DL-based approach to cervical cancer screening validated on data from multiple countries. Technically, we phrase the problem of detecting and classifying lesions in colposcopy images as a multi-task learning problem, in which we simultaneously perform image-level classification and lesion segmentation. Our model was trained on a private data set of acid stain colposcopy images with manually generated lesion segmentation masks and corresponding histopathological results, employing extensive data augmentation to address image variability. In an in-distribution validation with pathology results serving as ground truth, our algorithm outperformed medical experts (Balanced Accuracy: 0.68 vs 0.64) in CIN1- (Cervical intraepithelial neoplasia grade 1 or lower) versus CIN2+ (grade 2 or higher) classification. External validation on four colposcopy data sets from four countries featuring radical differences in prevalence and patient characteristics yielded superior performance of our method compared to baseline methods. Performance variability across countries was high with AUC values ranging from 0.54 - 0.80. Overall, algorithm performance varied with age, transformation zone (cervical area most prone to lesion development), presence of comorbidities and pathognomonic signs, with comorbidities having by far the largest negative effect. Future work should focus on improving model robustness and generalizability.
GMN4AD: Graph Matching Network for Alzheimer's Disease Diagnosis with Test-Time Domain Adaptation using Multi-centered Structure Magnetic Resonance Imaging
Alzheimer's Disease (AD) is a progressive neurodegenerative disorder that affects millions of older adults, with prevalence expected to rise significantly in the coming years. Early diagnosis, particularly during the mild cognitive impairment (MCI) stage, is critical for timely intervention. Structural Magnetic Resonance Imaging (sMRI) has emerged as a key modality for detecting AD-related brain changes, but traditional graph-based approaches often struggle with modality and inter-site heterogeneity, limiting diagnostic performance. In this paper, we propose Graph Matching Network for Alzheimer's Disease Diagnosis (GMN4AD), designed to model interactions between heterogeneous brain graphs derived from neuroimaging data. Unlike conventional methods that treat each brain graph independently, GMN4AD leverages graph matching to capture cross-graph relationships, enhancing diagnostic precision. Furthermore, we introduce a test-time domain adaptation strategy that combines contrastive learning to mitigate domain shifts during inference. Extensive experiments on three public AD datasets demonstrate that GMN4AD achieves superior performance compared to state-of-the-art methods, offering a robust and generalizable solution for AD diagnosis.
ProMUSE: Progressive Multi-modal Uncertainty-guided Staged Evidential Alzheimer Disease Classification
Alzheimer's disease (AD) is a fatal disorder that destroys memory and cognitive skills in the elderly population. Most treatments for AD are effective in the early stage, leading to an increasing demand for early AD diagnosis. AD diagnosis increasingly relies on multimodal data such as clinical assessments, structural Magnetic Resonance Imaging (MRI), and Positron Emission Tomography (PET) imaging. However, MRI and PET acquisition remain costly and not universally accessible, making full-modality inference impractical in real-world clinical workflows. We propose ProMUSE, a Progressive Multi-modal Uncertainty Guided Staged Evidential Network that adaptively determines when additional modalities are necessary, helping reduce the overall cost of data acquisition while maintaining accuracy. ProMUSE first performs evidential classification using low-cost clinical data and quantifies uncertainty via a Dirichlet-based subjective logic model. When uncertainty exceeds a learned threshold, ProMUSE progressively incorporates MRI or PET features, fusing modality-wise belief and uncertainty through Dempster-Shafer theory to obtain a calibrated multimodal prediction. This staged acquisition strategy enables accurate diagnosis while minimizing reliance on expensive imaging. Experiments on ADNI, AIBL, and OASIS across CN-AD, CN-MCI, and MCI-AD tasks demonstrate that ProMUSE achieves competitive or superior accuracy compared to full-modality baselines while reducing MRI/PET usage by 50-90%, yielding substantial cost savings. These results highlight ProMUSE as a practical, uncertainty-aware, and resource-efficient solution for real-world AD screening.
Mental-R1: Aligning LLM Reasoning for Mental Health Assessment
Mental health problems such as anxiety, depression, and suicide remain urgent global challenges, where timely and accurate assessment is critical for effective intervention. Recently, large language models have been explored for mental health assessment. However, existing general-purpose post-training methods do not align with the cognitive processes of human assessment, which may lead to unreliable reasoning outcomes. To bridge this gap, we propose Cognitive Relative Policy Optimization (CRPO), a reinforcement learning framework tailored for the mental health domain. CRPO extends group relative policy optimization by integrating stage-dependent uncertainty modeling into the policy optimization process. Specifically, we introduce a stage-wise entropy regularization mechanism that encourages broad exploration in early reasoning phases and progressively enforces confident decision-making in later stages, mimicking the human cognitive shift from uncertainty to certainty. In addition, inspired by cognitive appraisal theory, we formalize cognitive reasoning stages, thereby guiding theory-grounded interpretable inference. Experiments on 8 mental health datasets show that CRPO achieves an average improvement of 10.4 percentage points in weighted F1-score over the best reinforcement learning baseline. Furthermore, the CRPO-trained model Mental-R1 demonstrates clear advantages compared with existing large language models on reasoning-intensive cases, suggesting that CRPO enhances reasoning capabilities for mental health assessment.
Lung-R1: A Knowledge Graph-Guided LLM for Pulmonary Diagnostic Reasoning
Diagnosing pulmonary diseases requires integrating heterogeneous evidence amid phenotypic variability and cross-disease overlap. Although large language models (LLMs) have shown progress on pulmonary knowledge question answering (QA) and information-processing tasks, reliable pulmonary diagnosis requires patient-specific, relation-aware reasoning over electronic medical record (EMR) evidence rather than isolated knowledge recall. We define this gap between pulmonary knowledge and case-level diagnostic reasoning as the Pulmonary Knowledge-to-Diagnosis Gap. To address it, we introduce LungKG, the first structured pulmonary knowledge graph for diagnostic knowledge organization and record-grounded reasoning. LungKG contains 59,038 nodes and 164,308 edges across 15 entity types and 112 relation types, serving as both a reusable pulmonary knowledge resource and the foundation for LungKG-guided model adaptation. Built on LungKG, we propose Lung-R1, a LungKG-guided pulmonary LLM trained through KG-constrained reasoning-chain construction and KG-guided reinforcement learning. In a 20-system evaluation, Lung-R1-14B achieves state-of-the-art performance across Choice, Pulmonary-QA, and EMR Diagnosis, reaching an EMR Diagnosis score of 4.3583 and surpassing the strongest non-Lung-R1 baseline by 0.1476 points. These results demonstrate the value of LungKG-guided training for EMR-based pulmonary diagnosis.
Optimizing 2D Input Representations and Sub-phase Fusion Strategies for Differential Diagnosis of Asthma and COPD Using CNN- and GRU-Based Networks
This study aims to explore the performance of the VAR model in comparison with mel-frequency cepstral coefficient (MFCC) matrices and log-mel spectrograms using deep learning. In pulmonary sound classification, spectrogram-based representations suffer from inconsistent temporal dimensions due to varying respiratory cycle durations. Along with traditional trimming/zero-padding, adaptive-length windowing was presented to fix their temporal dimensions. Their spectral and temporal dimensions were optimized by testing a range of parameters. Different convolutional neural network (CNN) architectures were employed to extract features from the two-dimensional representations obtained over the sub-phases. The extracted sub-phase features were then fused using various strategies including direct concatenation, gated recurrent unit (GRU) network and GRU with attention mechanism. Model performances were assessed through respiratory cycle-based evaluation and subject-based evaluation comprising multiple respiratory cycles. Several data augmentation techniques were also studied to cope with limitations in data size. The best cycle-based F1-score (0.877) was obtained using the MFCC matrices with thirteen coefficients and 64-point time resolution per sub-phase representation followed by direct feature concatenation, and the best subject-based F1-score (0.855) was obtained using the MFCC matrices with thirteen coefficients and 256-point time resolution per full-cycle representation, both obtained by adaptive-length windowing. Augmentation degraded the performance of models overall, yet mixup augmentation was the best among the methods tested. MFCC outperformed log-mel spectrogram and VAR model in differentiation of asthma and COPD. Sophisticated fusion strategies did not improve the diagnosis. Augmentation did not contribute, demonstrating the significance of authentic data in pulmonary sound studies.
Patient-Level Diagnosis of Acute Myeloid Leukemia via Deep Learning Analysis of Bone Marrow Smear
Bone marrow smear review remains important for acute myeloid leukemia (AML) assessment, but manual single-cell interpretation is labor-intensive and patient-level diagnosis requires aggregation of many cellular observations. We present a cell-to-patient deep learning pipeline for AML-assisted diagnosis from bone marrow smear images. The study included 258 patients from six anonymized centers, including a main cohort of 169 patients from Centers 1-3 and an external validation cohort of 89 patients from Centers 4-6. A 16-category cell annotation vocabulary was used to describe the global cellular composition, including granulocytic, monocytic, erythroid, lymphoid, eosinophilic, and other cells. Rather than identifying strict AML blasts or leukemic blasts, the model targets an expert-defined composite category termed Composite Blast-like Cells (CBLC), comprising N, N1, M, M1, R, R1, J, and J1 according to the project-wide morphological standard. A fixed YOLO-based segmentation module detected cells, predicted contours were matched to expert polygon annotations by contour IoU, and standardized single-cell crops were generated. An EfficientNet-B0 classifier was trained through a two-stage GT-to-YOLO and YOLO-to-YOLO strategy with class-imbalance correction, center-border regularization, and morphology-assisted supervision. Cell-level predictions were aggregated into patient-level CBLC ratios for AML-oriented diagnostic support. The pipeline achieved stable internal validation and maintained external generalization, with ensemble weighted F1-scores of 0.9076, 0.8696, and 0.9124 on Centers 4, 5, and 6, respectively.
Interpretable Temporal Facial-Region Motion Analysis for In-the-Wild Parkinson's Disease Video Classification
Reduced facial expressivity is a common motor manifestation of Parkinson's disease (PD), often described as hypomimia or facial bradykinesia. This paper examines whether temporal motion descriptors extracted from facial-region keypoints can support in-the-wild PD-related video classification on the YouTubePD benchmark. Each video is represented using geometric descriptors from 14 predefined facial regions. Static geometry, normalized geometry, velocity-based descriptors, relative-velocity descriptors, and a GRU sequence baseline are compared under the same binary classification protocol. To assess stability and interpretability, the study includes seed-robustness analysis, region-level ablation, and permutation importance. The best result is obtained with normalized velocity descriptors and a Random Forest classifier, reaching a balanced accuracy of 0.826 and an AUROC of 0.855 on the held-out test split. Across 10 random seeds, this representation remains stable, with balanced accuracy of 0.810 +/- 0.018 and AUROC of 0.855 +/- 0.005. Overall, the results suggest that normalized facial-region motion is a lightweight and interpretable representation for YouTubePD video classification. The study is framed as a benchmark-level analysis and does not claim clinical severity assessment or MDS-UPDRS facial-expression scoring.
SpineReport: Automated 3D Quantification and Reporting of Lumbar Spine Degeneration on MRI
Lumbar spine conditions are a leading cause of disability worldwide, yet reliable quantification of degeneration from MRI remains challenging. In clinical practice, analysis is predominantly performed in two dimensions (2D), as manual three-dimensional (3D) assessment is time-consuming. However, 2D measurements suffer from limited reproducibility, particularly when anatomical structures are not aligned with the imaging plane. Existing automated approaches are often restricted to 2D, rely on discrete grading, or lack robustness and interpretability. We introduce SpineReport, an open-source, fully automated framework for comprehensive 3D morphometric analysis of lumbar spine MRI. Leveraging robust anatomical segmentations, the method extracts quantitative metrics from key structures, including the spinal canal, spinal cord, vertebrae, intervertebral discs, and foramina. These include both morphological and signal-based features, enabling cross-subject and longitudinal assessment. SpineReport further generates subject-specific reports that allow comparison with cohort distributions, improving interpretability and objective characterization of spinal morphology. Clinical relevance was evaluated against radiologist-reported severity grades for central canal, lateral recess, and foraminal stenosis. Metrics showed strong associations with central canal stenosis severity, with T2-weighted CSF signal providing the highest performance (AUC = 0.95). Canal AP diameter and area ratios also demonstrated strong correlations and high discriminative ability (AUC > 0.80). For lateral recess stenosis, associations were moderate, with lateral CSF signal being the most informative (AUC = 0.73). No significant associations were observed for foraminal stenosis despite robust region-of-interest extraction. SpineReport is released as an open-access tool: https://ivadomed.github.io/SpineReport/
MAGIS: Evidence-Based Multi-Agent Reasoning for Interpretable Strabismus Clinical Decision-Making
Strabismus is a common ocular disorder that requires fine-grained subtype diagnosis for individualized treatment planning. However, existing deep learning methods mainly provide diagnostic predictions without transparent reasoning, while recent large vision-language models (LVLMs), although promising for joint image understanding and report generation, remain highly prone to hallucination in this evidence-sensitive and rule-driven medical task. To address these challenges, we propose MAGIS, an evidence-based Multi-AGent reasoning for Interpretable Strabismus diagnosis framework. MAGIS transforms black-box end-to-end generation into a structured diagnostic process consisting of candidate hypothesis generation, dual-evidence constrained context, evidence-based corrective verification, and report generation. Specifically, we introduce a Dual-Evidence Constrained Context (DECC) mechanism that jointly organizes visual evidence from the photograph of the nine cardinal positions of gaze and evidence-based clinical diagnostic rules into a constrained context for reliable diagnostic reasoning. We further develop an Evidence-Based Corrective Verification (EBCV) mechanism that verifies whether the current diagnostic hypothesis is supported by visual evidence, heatmap-based visual cues, and evidence-based clinical diagnostic rules. Hypothesis refinement is triggered when inconsistency is detected. Experiments on a fine-grained strabismus benchmark demonstrate that MAGIS not only significantly outperforms other state-of-the-art diagnostic systems, improving the weighted F1 score from 72.0% to 91.3%, but also substantially improves the clinical reliability (consistency, alignment, and completeness) of generated diagnostic reports. These results demonstrate that MAGIS provides an effective solution for building accurate, evidence-based, and clinically interpretable strabismus diagnosis systems.
PACT: Learning Diverse Diagnostic Strategies via Privileged Synthesis and Branch Consensus
Clinical diagnosis requires flexible use of multiple reasoning paradigms under incomplete patient information. Existing LLM-based medical agents show strong medical reasoning ability, but single-paradigm or naively mixed dialogue supervision makes these paradigms difficult to learn without interference. We propose \textbf{PACT} (Periodic Anchor Consensus Training), a framework that couples supervised multi-paradigm dialogue synthesis with consensus-based Branch training. At the data level, \textbf{DPS} (Doctor-Patient-Supervisor) uses complete electronic medical records (EMRs) for quality control while keeping the doctor agent restricted to patient-visible information. This produces validated dialogues under four diagnostic reasoning paradigms without leaking hidden clinical answers. At the training level, PACT trains one paradigm-specific LoRA Branch per paradigm and periodically aggregates Branches into a shared Anchor through sign consensus. We further construct a dynamic multi-turn Chinese medical diagnosis benchmark for interactive consultation. Experiments show that PACT achieves state-of-the-art performance among compared proprietary, medical-specialized, and task-adapted baselines on diagnostic outcome and consultation-process metrics.
Evidence-Based Intelligent Diagnostic and Therapeutic Visualization System with Large Language Models: Multi-Turn Interaction and Multimodal Treatment Plan Generation
Aim: Existing AI-assisted traditional Chinese medicine diagnostic tools suffer from opaque reasoning processes, passive interaction, and limited treatment plan presentation. This study proposes a knowledge-enhanced visual diagnostic system to improve the transparency and interpretability of syndrome differentiation and treatment. Methods: The system is built upon a Neo4j knowledge graph comprising 241 syndromes, 1,263 symptoms, and 2,485 relations. It incorporates a four-stage symptom matching pipeline (exact, semantic, fuzzy, and large language model verification), an information gain-driven proactive questioning strategy optimized with genetic algorithms, and a multimodal treatment presentation integrating artificial intelligence-generated illustrations, three-dimensional meridian-acupoint models, and evidence-based literature. Results: Knowledge graph constraints reduced non-standard outputs by 32%. Case studies validated the effectiveness of the interactive workflow across patient self-assessment, clinician-assisted diagnosis, and traditional Chinese medicine education. Automated paired-comparison evaluation across 30 cases further demonstrated significant improvements in diagnostic trust (Cohen's d = 1.82, p < 0.001), reduced cognitive load (improvements in four of five dimensions), and higher credibility of evidence-based references (4.21 vs. 2.95). Conclusions: The proposed system enhances the transparency of traditional Chinese medicine diagnostic reasoning and the interpretability of treatment plans through knowledge graph-driven visualization and multimodal interaction, offering a practical solution for trustworthy artificial intelligence-assisted traditional Chinese medicine applications.
A Pathology Foundation Model for Gastric Cancer with Real-World Validation
Gastric cancer remains a major cause of cancer mortality, yet its histological and molecular heterogeneity complicates diagnosis and risk stratification. General-purpose pathology foundation models (PFMs) often plateau on fine-grained endpoints central to gastric cancer care, and few have undergone rigorous prospective validation or clinical reader studies. We present GRACE, a Gastric-specific foundation model for Real-world Assessment and Clinical dEcision support. GRACE was developed from multicenter gastric pathology datasets totaling 48,364 primarily HE-stained whole-slide images from 37,493 patients. When evaluated on 28 clinically relevant tasks, GRACE consistently outperformed representative pancancer PFMs, achieving a macro-AUC of 0.9188, with strong performance for precancerous lesion diagnosis (macro-AUC 0.9322), tumor histopathological assessment (macro-AUC 0.9119), molecular profiling (macro-AUC 0.8682), and prognostic prediction. Beyond benchmarking, GRACE's translational value was substantiated through a rigorous evidence chain. Under safety-gated criteria requiring 100% NPV for rule-out and 100% PPV for rule-in, GRACE streamlined review for up to 69.6% of malignancy-diagnosis cases and triaged 46.8% of MMR-IHC follow-up requests. This translational feasibility was further strengthened by a randomized crossover reader study of pathologist-AI collaboration. With GRACE assistance, diagnostic accuracy improved from 82.0% to 89.9%, yielding nearly twofold higher adjusted odds of a correct diagnosis (OR 1.987) alongside concurrent gains in sensitivity and specificity. AI assistance also reduced diagnostic time by 14.9%, elevated diagnostic confidence by 9.0%, and markedly improved inter-rater agreement. When calibrated to maintain non-inferior performance to senior pathologists, the AI-assisted workflow could triage 60.7% of atrophy and 82.7% of intestinal metaplasia cases.
Quantifying the biophysical properties of stomatocytes in health and disease
Hereditary stomatocytosis (HS) comprises red blood cell (RBC) disorders characterized by cup-shaped erythrocytes that respond oppositely to splenectomy: curative in overhydrated HS (OHS) but potentially thrombogenic in dehydrated HS (DHS/xerocytosis). This paradox persists because RBC biomechanics is governed by partly independent parameters--shear modulus, bending rigidity, surface-to-volume ratio (S/V), and cytoplasmic viscosity--that existing assays capture only piecemeal. Here we combine dissipative particle dynamics (DPD) simulations with microfluidic imaging to construct a control discocyte and three stomatocyte models (ST-RBC1-3) at fixed membrane area and decreasing volume (109.7, 101.5, 89.8 fL), spanning the OHS-to-DHS range. Tracing this parameter set through five mechanically orthogonal assays, we find that interendothelial-slit (IES) traversal is geometry-dominated: overhydrated ST-RBC1 requires an order of magnitude higher critical pressure than healthy RBCs, whereas dehydrated ST-RBC3 passes freely. ST-RBC3 nonetheless suppresses membrane tank-treading and raises low-shear whole-blood viscosity by ~29% at physiological haematocrit, comparable to Gaucher-disease hyperviscosity. A funnel-obstacle chip amplifies these differences into a label-free centerline-offset signal predicted to separate all four RBC types (~4.5 standard deviations between extreme phenotypes). These results unite single-cell mechanics, splenic filtration, and hemorheology in one framework, resolve the splenectomy paradox, and point toward microfluidic pre-operative risk stratification in HS.
Gender-Dependent Diagnostic Substitution in LLM Medical Triage: Same Symptoms, Unequal Urgency
We investigate whether large language models produce different medical triage recommendations for identical neurological symptoms when only the patient's stated gender and age vary. Using three model families--Gemini 3.5 Flash, Claude Sonnet 4.6, and GPT-5.4-mini--we present a standardized symptom profile (persistent headache, blurred vision, morning nausea, visual disturbances) across seven demographic conditions: three age groups (25, 38, 65) x two genders (male, female), plus a gender-unspecified baseline (n = 30 per condition per model, 630 total trials). We find a stark, systemic gender-dependent triage disparity: young women receive significantly lower emergency room (ER) referral rates than age-matched men (Gemini: 0% vs. 23.3%; Claude: 6.7% vs. 96.7%; GPT: 6.7% vs. 66.7%, all p < 0.001). The disparity disappears at age 65 for all models. The primary mechanism is diagnostic substitution: the models anchor on a gender-associated diagnosis, preferentially classifying young women with Idiopathic Intracranial Hypertension (IIH)--a condition epidemiologically linked to women of childbearing age--while diagnosing men with generic increased intracranial pressure with space-occupying lesions in the differential. This diagnostic closure routes female patients to lower-urgency care (outpatient doctor appointments) despite comparable severity ratings (7-9/10). Our findings demonstrate that clinical LLMs replicate documented human clinical biases by using epidemiological priors to suppress triage urgency, suggesting that AI triage engines must decouple urgency assessment from probabilistic diagnostic priors. We release all code, prompts, and raw results.
MeDxAgent: Multi-Agent Consultation for Interactive Medical Diagnosis
Large language models (LLMs) are increasingly used for health-related decision support. Yet most evaluations treat diagnosis as a single-shot task with complete information provided upfront, often as a multiple-choice selection. This diverges from clinical practice, where diagnosis is interactive and open-ended, involving sequential hypothesis refinement through targeted questioning. We address this gap. We build MeDxBench, a large-scale benchmark of 4,421 clinical cases across 20 specialties. We further propose MeDxAgent, a multi-agent consultation system for interactive diagnosis, and systematically study its prompt-, flow- and agent-level design choices. MeDxAgent achieves a 10.3% accuracy gain over the baseline on MeDxBench, closing 52.3% of the gap to a full-information oracle. We find that specific design choices: collecting demographics first, passing summarized dialogue for diagnosis, and feeding candidate diagnoses for targeted questioning, improve accuracy, mirroring how physicians reason, though their effect emerges fully only in combination. Code and dataset will be released upon publication.
Traj-Evolve: A Self-Evolving Multi-Agent System for Patient Trajectory Modeling in Lung Cancer Early Detection
Modeling patient trajectories from longitudinal electronic health records (EHRs) requires reasoning over sparse, noisy, and long-context multimodal sequences. Existing LLM-based multi-agent systems address context length but process patients in isolation, failing to mirror how clinicians leverage accumulated experience from similar prior cases. We present Traj-Evolve, a self-evolving multi-agent system with two complementary evolving mechanisms. First, an Experience Pool (ExPool) acts as a non-parametric memory, indexing rejection-sampled reasoning traces to retrieve similar patients as few-shot contexts. Second, multi-agent reinforcement learning (MARL) via reward-ranked fine-tuning parametrically optimizes inter-agent and agent-memory collaboration. A leave-one-out cross-retrieval strategy unifies the two, aligning training- and inference-time behavior under retrieval augmentation. On a lung cancer prediction task utilizing up to five years of multimodal EHRs, Traj-Evolve outperforms 9 strong baselines on the overall population and a challenging never-smoker population. Analysis of the evolving dynamics highlights three key findings: (1) expanding the ExPool shifts optimal retrieval from diverse to specific samples; (2) under MARL, the manager agent's prediction loss converges quickly while the worker agents' temporal reasoning continues to benefit from more verified patients; and (3) the two mechanisms are complementary on the predicted risk, where ExPool improves specificity while MARL improves sensitivity.
When Rating Scales Fall Short: LLM-Assisted Discovery of ADHD Signals in Turkish Teacher Narratives
Attention Deficit Hyperactivity Disorder (ADHD) is one of the most common neurodevelopmental disorders in childhood, and its diagnosis relies on assessments combining clinician judgment with standardized rating scales and reports from parents and teachers. While structured instruments such as the Conners' Teacher Rating Scale-Revised Short Form (CTRS-R:S) quantify ADHD-related behaviors, teachers also provide open-ended narratives that may contain complementary signals not captured by structured assessments. However, it remains unclear to what extent teacher narratives encode signals overlooked by rating scales. In this study, we analyze de-identified Turkish teacher evaluation forms collected during clinical ADHD assessments, including both CTRS-R:S scores and open-ended teacher narratives. We compare predictive signals from structured scores and narrative text and identify cases where structured assessments fail to clearly distinguish ADHD from non-ADHD students while narrative-based models capture distinct behavioral patterns. Notably, these cases show minimal overlap with those missed by the narrative model, suggesting that structured and narrative information encode complementary signals. To interpret these differences, we apply a large language model (LLM)-assisted theme discovery pipeline that reveals distinct attention, behavioral, and family-related patterns, highlighting the potential of natural language processing (NLP) to uncover clinically relevant signals from teacher narratives and to complement traditional ADHD screening tools.
Brain-Atlas-Guided Generative Counterfactual Attention for Explainable Cognitive Decline Diagnosis Using Multimodal Connectomes
Mild cognitive impairment (MCI) and subjective cognitive decline (SCD) are closely associated with the early Alzheimer's disease continuum, where accurate and explainable diagnosis is important for early risk assessment and intervention. Existing connectome-based deep learning models can improve classification performance but often provide limited insight into disease-related functional and structural connectivity changes. This paper proposes an atlas-knowledge-guided Generative Counterfactual Attention-guided Network (GCAN) for explainable cognitive decline diagnosis using multimodal brain connectomes. GCAN formulates diagnosis as a source-to-target counterfactual generation problem, where target-label connectomes are generated from source-label inputs and their differences are used to construct counterfactual attention maps. To preserve connectome topology, an Atlas-aware Bidirectional Transformer (AABT) performs network-level token encoding and decoding under brain-atlas constraints. The framework is further extended from functional connectivity (FC) to joint functional and structural connectivity (SC) modeling, enabling counterfactual analysis of complementary functional reorganization and structural topology changes. Experiments on hospital-collected and ADNI datasets show that GCAN achieves competitive performance across HC vs. SCD, HC vs. MCI, and SCD vs. MCI classification tasks. Visualization, circular connectome analysis, CAM-based comparison, ablation studies, and confidence interval analysis further support the interpretability and reliability of the proposed framework. Modality-specific FC and SC pre-trained classifiers are used to provide target-state priors for counterfactual generation while being separated from the downstream diagnostic classifier to prevent data leakage.
3D Segment Anything Model with Visual Mamba for Diagnosing Placenta Accreta Spectrum
Placenta Accreta Spectrum (PAS) is a rare but highly dangerous obstetric disease. Early and accurate PAS diagnosis is critical for maternal health. Traditional PAS diagnosis relies on experienced doctors by analyzing the cesarean history and Magnetic Resonance Imaging (MRI) data. However, district-level hospitals often lack the expertise and resources for accurate PAS diagnosis. To address these challenges, we establish the first MRI-based PAS dataset, which includes both fine-grained segmentation and classification annotations. Meanwhile, diagnosing PAS can be significantly enhanced by segmenting lesion areas from MRI images of the uterus. To achieve automatic PAS diagnosis, we propose 3DSAMba, a novel feature learning framework for effective lesion segmentation. More specifically, we first design a 3D Segment Anything Model (SAM) and incorporate medical domain information into the model through an efficient adapter mechanism. In addition, we introduce a Multi-Level Aggregation Mamba (MLAM) to aggregate feature maps across different levels and a Fusion State Space Model (FSSM) to fuse multi-scale features from both the encoder and decoder. Finally, we apply segmentation masks to the original MRI images through element-wise multiplication, effectively isolating lesion areas for more accurate PAS diagnosis. Extensive experiments validate that our framework significantly improves the PAS diagnostic performance. To facilitate further research in PAS diagnosis, we have released the dataset and source code at https://github.com/Drchip61/PASD.
Beyond Accuracy: Evaluating Efficiency, Robustness and Explainability in Deep Learning for Malaria Diagnosis
Malaria remains a leading cause of mortality in sub-Saharan Africa, where scarce diagnostic infrastructure makes timely, accurate diagnosis particularly challenging. While deep learning offers a compelling path toward automated malaria screening, clinical adoption is hindered by computational cost and opacity in decision-making. This work benchmarks four deep learning models spanning a wide range of designed design architectures and model capacities on the NLM-Malaria dataset, jointly evaluating predictive performance, robustness, and post-hoc explainability. We find that lightweight, efficient-by-design models match their heavier counterparts in predictive performance, and the Friedman test confirms no statistically significant performance differences. CAM-based XAI methods consistently localize diagnostically relevant regions, while fine-grained attribution methods produce less targeted explanations, particularly with heavier backbones. Robustness evaluation under three types of image corruption further reveals that model confidence degrades faster than accuracy, providing a practical signal for human review. However, no XAI method is robust to corruption, with explanation reliability degrading at noise levels plausible in clinical practice, even when predictions remain accurate. These findings support the deployment of lightweight architectures for malaria diagnosis in resource-constrained settings, while highlighting the vulnerability of post-hoc explanations as an important consideration for responsible clinical deployment.
iLoRA: Bayesian Low-Rank Adaptation with Latent Interaction Graphs for Microbiome Diagnosis
Parameter-efficient adaptation has made LLMs practical for domain prediction, but standard LoRA still relies on a static low-rank update and does not expose the latent interactions that often drive scientific labels. We introduce iLoRA. To our knowledge, it is the first Bayesian graph-conditioned LoRA framework. It infers a latent interaction graph from the input and uses it to generate input-conditioned LoRA updates. As a result, iLoRA learns prediction and latent interaction structure jointly, rather than training a predictor and applying interaction analysis only post hoc. We instantiate this idea for microbiome diagnosis, where disease state can depend on both species-level abundance and microbe-microbe cross-talk, and evaluate it in two complementary settings: interactive QA with human-annotated graphs, which tests latent structure recovery, and multi-cohort IBD diagnosis, which tests biomedical utility. Across both settings, iLoRA improves over strong LoRA and Bayesian adaptation baselines, recovers graphs aligned with human annotations and cohort-level microbiome associations, and provides calibrated uncertainty with moderate graph-branch overhead.