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.

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Latest papers 168

May 28, 2026cs.CV

Genetically Aligned Patient Representations Improve Hematological Diagnosis

Multimodal alignment of histopathology encoders with transcriptomic and genomic data has been shown to significantly improve performance in downstream diagnostic tasks. Hematological cytology is unique in that visual single-cell evaluation is often paired with cytogenetics and molecular genetics for blood cancer diagnosis. In this study, we present a framework to align single white blood cell images with chromosomal aberrations (karyotype) and somatic mutations from targeted gene panels. Our training strategy follows a two-stage approach: (i) self-supervised, vision-only pretraining of a transformer aggregator using an iBOT head on a cohort of over 1500 patients, and (ii) genetic alignment via supervised contrastive loss on acute myeloid leukemia patients. Our genetically aligned patient encoder improves hematological diagnostic tasks, outperforming slide-level histopathology foundation models. Additionally, the model provides off-the-shelf retrieval capabilities for diseases and genetic alterations. Incorporating genetic data into patient encoders increases the quality of patient representations, providing a framework that aligns with clinical diagnostic workflows and paves the way for future multimodal hematology-specific AI. The code and model weights are available at https://github.com/marrlab/GenBloom.

Muhammed Furkan Dasdelen, Fatih Ozlugedik, Ilaria Looser +3

Institute of AI for Health, Helmholtz Munich, Germany · International School of Medicine, Istanbul Medipol University, Türkiye · Munich Leukemia Laboratory, Germany +4

Computational Pathology Healthcare Medical Diagnosis Cross-Modal Alignment Oncology Medical Image Representation Learning

May 26, 2026cs.CV

Clinically-Grounded Counterfactual Reasoning for Medical Video Diagnosis

Medical video diagnosis involves inferring clinical decisions from dynamic tissue responses throughout examination processes. Existing methods rely on an end-to-end learning paradigm that i) focuses on appearance rather than pathology, ii) lacks clinical priors, and iii) reasons solely from observations without counterfactual comparison. This work introduces MedVCR, a counterfactual reasoning framework that mimics clinical diagnostic thinking. MedVCR comprises three components: a Counterfactual Generator that synthesizes tissue evolution under specified pathological states via a diffusion-based manner; a Counterfactual Representation Learning module that encodes diagnostic knowledge through clinical rules (i.e., temporal consistency, pathological separability, and counterfactual alignment); and a Dual Diagnostic Prediction strategy that integrates video-level assessment with frame-level counterfactual analysis. MedVCR is evaluated under both fully supervised (e.g., colposcopy) and weakly supervised (e.g., colonoscopy) video diagnosis settings, yielding 2.6%-10.2% performance gains compared with leading baselines. Comprehensive ablation studies further validate the effectiveness of each component. The code will be released.

Jianzhe Gao, Churan Wang, Weiyi Zhang +5

Healthcare Medical Diagnosis Clinical Reasoning Counterfactual Reasoning

May 25, 2026cs.CV

Benchmarking Convolutional, Transformer, Hybrid, and Vision Language Models for Multi Disease Retinal Screening

Modern deep learning offers powerful tools for automated retinal screening, but it remains unclear how different visual model families compare in realistic multi-disease settings and under domain shift. In this work, we benchmark twelve architectures across four model families: convolutional neural networks, vision transformers, hybrid CNN-transformer backbones, and vision-language models, using the Retinal Fundus Multi-disease Image Dataset (RFMiD). We evaluate two tasks: binary screening for any retinal disease and multi-label classification across 28 disease classes. Using standardized training, calibration, and evaluation protocols, we report AUC, F1, precision, recall, and sensitivity at a clinically relevant operating point with specificity near 80%. On RFMiD, all architectures perform well on binary screening, with AUC above 84%, but attention-based models perform best. SwinTiny and the hybrid CoAtNet0 and MaxViTTiny models achieve the strongest binary screening results and improve macro and micro F1 in the multi-label setting. Vision-language models, including CLIP ViT-B/16 and SigLIP-Base384, are competitive with CNN baselines but do not surpass the best transformer and hybrid backbones. In external validation on Messidor-2 for referable diabetic retinopathy, AUC ranges from 66.8% to 84.7%, with hybrid and transformer models again showing strong performance. These results provide a reproducible reference for model selection in multi-disease retinal screening and guide future automated screening tools for clinical deployment.

Durjoy Dey, Aymane Ajbar, Yuhong Yan

Department of Computer Science and Software Engineering Concordia University Montreal, QC, Canada · Ebovir Biotechnologie Inc. Montreal, QC, Canada

Hybrid CNN-Transformer Architectures Vision Transformer Medical Diagnosis Medical Image Classification Medical VLMs Medical Image Benchmarks

May 25, 2026cs.CV

Context-driven Missing-Modality Learning for Robust Medical Diagnosis with Image-Tabular Data

While multimodal data integrating diverse imaging and clinical tabular records is crucial for accurate medical diagnosis, the arbitrary absence of specific modalities is prevalent in clinical practice, severely degrading the performance of multimodal models. Existing methods either discard missing modalities, leading to information loss, or struggle to synthesize them without capturing complex inter-modal dependencies. To address these limitations, we propose a novel Context-driven Missing-Modality Learning (CMML) framework, which sequentially performs modality synthesis and semantic alignment to achieve robust diagnosis under arbitrary missing conditions. Specifically, we design a Cascade Residual Transformer-based Autoencoder (CRTA) that leverages learnable context tokens acting as dataset-level semantic prior to capture inter-modal dependencies and synthesize key missing representations. These representations are further enriched by modality-specific memory banks. To resolve the discrepancy between original available and synthesized representations, we transform the learned context tokens into instance-adaptive semantic references by infusing multimodal representations from the CRTA's outputs. This reference guides the alignment of heterogeneous modality representations into a unified space, where class-aware contrastive refinement is finally applied to explore discriminative diagnostic cues. Extensive evaluations on skin lesion (Derm7pt), ocular disease (ODIR), and meningioma (MEN) datasets demonstrate that CMML significantly outperforms state-of-the-art (SOTA) methods, yielding AVG AUC improvements of 1.26%, 0.97%, and 1.32%, respectively.

Tianling Liu, Lequan Yu, Tong Han +1

College of Intelligence and Computing, Tianjin University, Tianjin 300350, China. · Department of Statistics and Actuarial Science, School of Computing and Data Science, The University of Hong Kong, Hong Kong. · Department of Radiology, Tianjin Huanhu Hospital, Tianjin 300350, China. +2

Missing-Modality Learning Multimodal Robustness Medical Diagnosis Cross-Modal Alignment

May 23, 2026physics.med-ph

Towards Real-World Identification of Fatigued Muscle Groups via Musculoskeletal Simulation

Contactless diagnosis of musculoskeletal disorders can potentially improve population health as well as robot behaviours in collaborative settings. However, current diagnosis methods require an in-person physical examination in which a trained physician senses, through contact, the force applied by various muscles. Simulation tools exist, but their use for diagnosis with real data is under-explored. In this paper, we propose an algorithm for identifying which upper-limb muscle group is fatigued. Our algorithm compares the realworld free-space motion of the subject with that of a simulated musculoskeletal model, and is therefore contactless: preventing the need for invasive sensing or in-person assessment. Our algorithm simulates various fatigue conditions using a physics-based musculoskeletal model and extracts diagnostic motion features from both real and simulated data, which are compared for diagnosis. Experimental results on real data demonstrate that the proposed method can reliably distinguish between multiple muscle-groups of fatigue. Additionally, through comprehensive performance comparisons, we show how recent advanced musculoskeletal simulators can be properly configured to address the sim-to-real gap in the context of the fatigue diagnosis task. Our approach can potentially spur further research in remote and automated diagnosis, significantly lowering the barrier to large-scale and early detection.

Jenishkumar Chauhan, Samarth Brahmbhatt, Vineet Vashista

Human-Centered Robotics Lab at IIT Gandhinagar, Gujarat, India · independent researcher from Mountain View, California, USA

Medical Diagnosis Sim-to-Real Transfer Physics-Based Simulation

May 23, 2026cs.CV

Structured Visual Evidence Decomposition for Evidence-Grounded Multimodal Screening of Obstructive Sleep Apnea-Hypopnea Syndrome

Effective pre-polysomnography screening for obstructive sleep apnea-hypopnea syndrome (OSAHS) requires combining clinical risk factors with visible craniofacial and neck cues. Directly prompting general-purpose multimodal foundation models for medical yes/no decisions can yield unstable, poorly calibrated outputs. We propose EviOSAHS, an evidence-grounded multimodal reasoning framework that separates image-only anatomical evidence acquisition from final clinical adjudication. Each frontal facial image is decomposed into seven fixed anatomical queries covering the neck, chin, mouth, face/neck fat, lower jaw, midface, and nose. Visual responses are converted into structured evidence cards recording target anatomy, visibility, risk direction, evidence strength, confidence, and a concise summary. These cards are combined with a cleaned clinical profile only in the final stage, where a large language model performs balanced binary screening adjudication. We evaluated EviOSAHS on a 642-subject cohort, mapping normal subjects to screening-negative and mild, moderate, or severe OSAHS subjects to screening-positive. EviOSAHS achieved 88.47% accuracy, 94.86% sensitivity, 93.74% F1-score, and a 5.14% false-negative rate, outperforming clinical-only prompting, direct multimodal prompting, and naive two-stage pipelines under a unified protocol. Ablations showed that seven-question visual decomposition and balanced final adjudication were critical to the high-sensitivity operating point. A question-level audit of 4,494 visual outputs showed a 100% structured parse rate and 93.88% high-visibility rate. EviOSAHS provides an auditable, high-sensitivity workflow for binary pre-polysomnography OSAHS screening, but should be viewed as a triage assistant rather than a diagnostic system. Prospective validation, external testing, and calibrated operating-point control are needed before clinical deployment.

Chen Zhan, Yingchen Wei, Xiaoyu Tan +2

School of Electronic and Electrical Engineering, Shanghai University of Engineering Science, Shanghai 200438, China · Tencent Youtu Lab, Shanghai 200233, China · ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital of Fudan University, Shanghai 200031, China +1

Healthcare Clinical Triage Medical Diagnosis Clinical Decision Support Multimodal Reasoning Medical VLMs+1

May 22, 2026cs.LG

Knowledge Graph Modulated Deep Learning for Limited-Sample Clinical Data Analysis

Biological systems are governed by structured molecular interactions, where pathways, regulatory circuits, and functional gene relationships shape cellular behavior and disease progression. Much of this knowledge is naturally represented as graphs. However, most biomedical AI models cannot directly use graph-encoded biological knowledge and instead require compressed low-dimensional representations, which can lose important structure and reduce performance, especially in limited-sample clinical studies. Here, we introduce Graph-in-Graph (GiG), a knowledge graph-modulated deep learning framework for data-efficient clinical prediction. GiG represents each patient as a standalone modular graph, in which curated biological knowledge graphs define edges and patient-specific measurements, such as gene expression, define node features. This design allows multiple biological knowledge graphs to be integrated while preserving gene-gene interactions and pathway topology during patient-level representation learning. Across cohorts comprising nearly 9,700 patients and five clinical tasks, including liquid biopsy cancer detection, prostate cancer diagnosis, and 32-class pan-cancer classification, GiG consistently outperforms traditional and state-of-the-art methods, with the largest gains in limited-sample settings. On the challenging prostate cancer diagnosis task, GiG improves macro-F1 by up to 49 percentage points relative to competing methods. Control experiments replacing real pathway graphs with random topologies confirm that these gains arise from biologically grounded knowledge graph structure rather than graph modeling alone. These findings show that knowledge graph-modulated deep learning can improve robustness, interpretability, and sample efficiency in clinical data analysis, and provide a principled framework for integrating biological knowledge graphs into predictive modeling.

Yuwei Xue, Sakib Mostafa, James Zou +5

Department of Radiation Oncology, Stanford University, Stanford, California, USA · Department of Electrical Engineering, Stanford University, Stanford, California, USA · Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA +6

Graph Representation Learning Medical Diagnosis Clinical Prediction Knowledge Graphs Data-Efficient Learning Biomedical KGs

May 22, 2026cs.LG

Class-Dependent Hybrid Data Augmentation for Multiclass Migraine Classification under Severe Class Imbalance

We conducted a reproducibility-oriented re-evaluation of prior migraine classification studies, correcting for data leakage and metric bias. We then introduced (i) a clinically motivated aggregation of two hemiplegic subtypes following ICHD-3 §1.2.3, (ii) a class-dependent hybrid augmentation strategy that assigns generation methods based on per-class sample size, and (iii) the concept of fidelity asymmetry, motivating proportionally constrained growth as an alternative to full class balance. Experiments were performed on a dataset of 400 patients across seven migraine subtypes under a two-stage protocol, including the six-class configuration described above. Models were evaluated using stratified 5-fold cross-validation with macro-averaged F1 as the primary metric. Correcting methodological flaws reduces previously inflated performance estimates, with the corrected macro-F1 baseline standing at 0.71. The proposed framework consistently outperformed individual augmenters in macro-F1 averaged across the eight evaluated classifiers (0.862 vs. 0.836 for Gaussian Copula, 0.815 for CTGAN, and 0.801 for the no-augmentation baseline), and achieved its peak result of 0.914 with FT-Transformer under proportional augmentation. The no-augmentation FT-Transformer baseline (0.896) shows that, at the per-classifier ceiling, clinically motivated class aggregation accounts for most of the absolute improvement; the framework's principal measurable contribution is the gain in average robustness across classifiers, highlighting the dominant role of problem formulation.

Elvin Somón, Miguel A. Gutiérrez-Naranjo

Department of Computer Science and Artificial Intelligence University of Seville, Seville, Spain

Class-Imbalanced Learning Synthetic Data Augmentation Data Augmentation Medical Diagnosis Multiclass Classification

May 22, 2026eess.IV

GMENet: Generative Mixture of Experts Network for Multi-Center Glioma Diagnosis with Incomplete Imaging Sequences

Contemporary glioma diagnosis integrates molecular features with histopathology to guide clinical decision-making. However, in clinical settings, divergent imaging protocols result in incomplete MRI sequences, leading to two primary challenges: forcing existing frameworks to discard a large portion of clinical data during training and consequently limiting their clinical applicability. To address these limitations, we propose GMENet, a Generative Mixture of Experts Network for multi-center glioma diagnosis with incomplete imaging sequences. Firstly, we design a Cross-attention-based Gated Generation Module that synthesizes missing sequence features from available sequences via cross-attention and dynamic gating mechanisms, incorporating a cycle-consistency loss to preserve semantic integrity. Secondly, we introduce a Dynamically Weighted Experts Fusion Module that performs mixture-of-experts interaction and confidence-aware fusion over original and synthesized dual-sequence features for multi-task prediction. We evaluate GMENet on a multi-center cohort of 1,241 subjects from four in-house datasets and two public repositories. Experiments show that GMENet expands clinically usable training data by 97%, relative to complete-sequence-only data. Furthermore, it consistently outperforms state-of-the-art methods trained on complete data, demonstrating improved robustness under cross-center distribution shifts.

Pengfei Song, Fangjin Liu, Wenwen Zeng +5

School of Biomedical Engineering and Technology Innovation, Fudan University · Institute of Science and Technology for Brain-Inspired Intelligence, Fudan University · 3Intelligent Diagnosis and Treatment Laboratory for Brain Diseases, Joint Laboratory of Neurosurgery Department of Huashan Hospital and School of Information Science and Technology, Fudan University

Missing-Modality Learning Medical Diagnosis Medical Image Synthesis Mixture-of-Experts Models

May 22, 2026cs.CL

When Symptoms Are Not Enough: Evidence-Weighting Patterns in Large Language Model Psychiatric Screening

As demand for mental health care outpaces clinician-delivered assessment, scalable screening tools are increasingly needed. Large language models (LLMs) may identify psychiatric risk from patient narratives, but their reliability across diagnoses, demographic subgroups, and evidence-use patterns remains uncertain. We introduce a SCID-anchored benchmark of 555 semi-structured experiential interviews paired with diagnostic reference labels for anxiety disorder, major depressive disorder, post-traumatic stress disorder, and any current mental health disorder. Using zero-shot task-specific prompting, we evaluated five state-of-the-art LLMs and examined whether false-negative errors reflected missed psychiatric evidence or differential weighting of symptom, functional-impairment, and protective-context cues. Performance varied across tasks and models, with accuracy ranging from 0.49 to 0.86 and Matthews correlation coefficients from 0.16 to 0.38. GPT-4.1 Mini and GPT-5 Mini showed the most consistent disorder-specific accuracy. Subgroup analyses found higher depression-classification accuracy among male than female participants, no consistent age-related pattern, and modest non-uniform variation across race strata. Evidence-integration analyses showed that false-negative anxiety and PTSD classifications often contained explicit symptom evidence but were accompanied by preserved functioning, coping ability, or social support. Functional-impairment evidence shifted model outputs toward positive classifications, whereas protective-context evidence shifted outputs away. These findings suggest that LLMs may support scalable psychiatric screening, but their tendency to discount symptom evidence in the presence of preserved functioning or protective context requires careful validation before clinical deployment.

Jianfeng Zhu, Megan Korhummel, Ruoming Jin +1

Departments of Computer Science1 and Psychological Science2 Kent State University Kent, OH USA

Medical Diagnosis Mental Health Demographic Bias in Language Models Clinical Language Model Evaluation Medical LLMs

May 20, 2026cs.CL

Reliable Automated Triage in Spanish Clinical Notes: A Hybrid Framework for Risk-Aware HIV Suspicion Identification

Standard clinical Natural Language Processing (NLP) benchmarks often yield inflated metrics by forcing deterministic classification on ambiguous instances, thereby obscuring the clinical risks of overconfident predictions. To bridge this gap, we propose a risk-aware hybrid selective classification framework, evaluated on early Human Immunodeficiency Virus suspicion identification in Spanish clinical notes. Our dual-verification approach explicitly decouples aleatoric uncertainty through Mondrian conformal prediction and epistemic uncertainty using a Multi-Centroid Mahalanobis Distance veto. Empirical evaluations reveal that standard uncertainty metrics and baseline classifiers are structurally insufficient for safe medical triage, suffering severe coverage collapse when forced to operate under strict reliability constraints. In contrast, by demanding that clinical narratives pass both probabilistic and geometric safeguards, the proposed framework successfully isolates a highly trustworthy operational domain.

Rodrigo Morales-Sánchez, Soto Montalvo, Raquel Martínez

Dept. Lenguajes y Sistemas Informáticos, ETSI Informática, Universidad Nacional de Educación a Distancia (UNED) · Dept. Informática y Estadística, ETSI Informática, Universidad Rey Juan Carlos (URJC)

Selective Prediction Healthcare Clinical Triage Medical Diagnosis Clinical NLP Clinical Risk Prediction

May 20, 2026cs.LG

MedExpMem: Adapting Experience Memory for Differential Diagnosis

Experienced physicians develop diagnostic expertise through clinical practice, acquiring not only disease knowledge but also the ability to differentiate confusable conditions. Current medical vision-language models (VLMs) lack this capability -- their parameters encode static knowledge that does not evolve across diagnostic encounters. We propose MedExpMem, an experience memory framework enabling VLM-based diagnostic agents to accumulate differential diagnosis expertise. Unlike retrieval-augmented generation, which retrieves encyclopedic disease descriptions, MedExpMem memorizes discriminative experience derived from the agent's own diagnostic failures and organizes them as pairwise differential notes encoding key discriminators, actionable decision rules and reasoning error patterns. The framework adopts a two-phase construction process mirroring physician learning: initial practice exposes knowledge gaps, and reflective re-diagnosis refines understanding. When encountering new cases, the agent retrieves experience memory to guide differential reasoning. We evaluate MedExpMem on a radiology benchmark spanning 11 subspecialties. Results demonstrate consistent accuracy improvements, maximum 7.0%, across diverse models and scales. Analytical experiments validate experience quality and robustness, demonstrating MedExpMem as a competitive method addresses medical adaptation needs beyond the reach of parameteric learning.

Qianhan Feng, Zhongzhen Huang, Yakun Zhu +4

The Chinese University of Hong Kong · Shanghai Jiao Tong University · Shanghai Innovation Institue

Radiology VLMs Healthcare VLM Adaptation Medical Diagnosis Medical VLMs Medical Reasoning+2

May 19, 2026cs.LG

On-Device Continual Learning with Dual-Stage Buffer and Dynamic Loss for Point-of-Care Pneumonia Diagnosis

Deep learning models detect pneumonia from chest X-rays with high accuracy, but the performance declines under domain shifts caused by differences in devices, patients, or institutions. We present PneumoNet, a domain-incremental learning method for point-of-care pneumonia diagnosis in resource-limited settings. PneumoNet combines a lightweight CNN for on-device prediction, a dual-stage balanced buffer for class-balanced replay, and a dynamic class-weighted loss to correct training-batch imbalances. Evaluated on a domain-shifted PneumoniaMNIST dataset simulating five realistic domain change scenarios, PneumoNet achieves 86.6% accuracy with 1.4% forgetting while being smaller and faster than existing baselines. These results highlight PneumoNet's potential to enable adaptive, privacy-preserving diagnostic AI directly on point-of-care medical devices in real-world and pandemic-ready healthcare.

Danu Kim

Korea International School, Jeju Campus, Jeju-do 63644, Republic of Korea

Medical Diagnosis Continual Learning Domain-Incremental Learning Medical Image Classification On-Device Inference

May 18, 2026cs.CV

Domain Incremental Learning for Pandemic-Resilient Chest X-Ray Analysis

Deep learning models achieved high accuracy in pneumonia detection from chest X-rays. However, their generalization across clinical domains remains limited due to variations in imaging devices, acquisition protocols, and institutional conditions. This study introduces a replay-based domain-incremental continual learning designed to enable continual adaptation to cross-domain variations without catastrophic forgetting. The proposed method incorporates a class-aware balanced replay to maintain balanced class representation within a constrained memory and a class-aware loss to dynamically reweight class imbalance during training. Experiments conducted on a domain-shifted PneumoniaMNIST dataset consisting of five simulated domains demonstrate that the proposed method achieves an average accuracy of 88.66%, outperforming Experience Replay, Fine-Tuning, and Joint Training baselines. These findings highlight the efficacy of the proposed approach in achieving robust and consistent pneumonia detection across clinical environment variations.

Danu Kim

Korea International School, Jeju Campus, Jeju-do 63644, Republic of Korea

Chest X-Ray Classification Medical Diagnosis Domain-Incremental Learning Cross-Domain Generalization Replay-Based Continual Learning

May 16, 2026cs.CV

GLT-PEFT: Gated Lie-Tucker Parameter-Efficient Fine-Tuning for Alzheimer's Disease Diagnosis with Hippocampal Segmentation Pretraining

Parameter-efficient fine-tuning (PEFT) has emerged as a promising paradigm for adapting pretrained models under limited data conditions. However, most existing PEFT methods are designed for matrix-structured parameters and are not well suited for high-dimensional convolutional kernels in medical imaging models. Moreover, they typically rely on additive updates and lack mechanisms to preserve the geometric structure of pretrained parameters, while multiplicative (geometry-aware) updates are difficult to integrate within a unified framework. To address this issue, this paper proposes GLT-PEFT, a gated Lie-Tucker parameter-efficient fine-tuning framework for Alzheimer's disease (AD) diagnosis. The proposed approach transfers a hippocampal segmentation pretrained model to a downstream classification task. Tucker decomposition enables tensor-aware low-rank adaptation of 3D convolutional kernels, while Lie group-based transformations provide structure-preserving multiplicative updates. A gating mechanism further reconciles additive and multiplicative update forms, resulting in a unified and more stable fine-tuning strategy. Extensive experiments demonstrate that GLT-PEFT achieves effective cross-task transfer while significantly reducing trainable parameters, highlighting its effectiveness for efficient and robust adaptation in medical imaging models.

Guanghua He, Hancan Zhu, Gaohang Yu +1

Department of Mathematics, Hangzhou Dianzi University, Hangzhou, 310018, China · School of Mathematics, Physics and Information, Shaoxing2026 University, Shaoxing, 312000, China · Department of Mathematics, Zhejiang University of Science and Technology, Hangzhou, 310023, China

Medical Diagnosis Low-Rank Adaptation Parameter-Efficient Fine-Tuning

May 15, 2026cs.LG

MedMIX: Modality-Internal Expert Fusion for Multimodal Medical Diagnosis

Multimodal clinical prediction faces three challenges: multiple foundation models (FMs) with complementary strengths per modality, pervasive missing modalities at training and test time, and sample-specific variation in modality contributions. We introduce MedMIX, a multimodal framework that combines intra-modality expert fusion, learned inter-modality fusion, and training-only large--small model collaboration for robust medical prediction under incomplete modalities. Within each modality, MedMIX aggregates complementary embeddings from multiple small expert models; across modalities, it performs learned fusion over available modalities; and during training, it leverages large teacher models to improve deployed representations without additional inference cost. Across three heterogeneous benchmarks (OpenI, MIMIC-IV-MM, and MMIST-ccRCC), MedMIX achieves consistently strong performance while remaining robust under controlled missing-modality perturbations, and further demonstrates sustained robustness under cross-cohort shift on MIMIC-III. These results highlight MedMIX as a practical framework that unifies within-modality expert collaboration, sample-specific cross-modality fusion, and efficient large--small model collaboration while remaining robust to incomplete modalities.

Seungik Cho, Anqi Li, Wei Qiu

Department of Electrical and Computer Engineering Rice University Houston, TX 77005

Missing-Modality Learning Multimodal Robustness Healthcare Medical Diagnosis Multimodal Fusion

May 14, 2026cs.AI

How Sensitive Are Radiomic AI Models to Acquisition Parameters?

A main barrier for the deployment of AI radiomic systems in clinical routine is their drop in performance under heterogeneous multicentre acquisition protocols. This work presents a performance-oriented framework for quantifying scan parameter sensitivity of radiomic AI models, while identifying clinically significant parameter regions associated with improved cross-dataset robustness. We formulate a mixed-effects framework for quantifying the influence that clinically relevant acquisition parameters have on models performance, while accounting for subject-level random effects. We have applied our framework to lung cancer diagnosis in CT scans using two independent multicentre datasets (a public database and own-collected data) and several SoA architectures. To evaluate across-database reproducibility, CT parameters have been adjusted using the data collected and tested on the public set. The optimal configuration selected is the current of the X-ray tube >= 200 mA, spiral pitch <= 1.5, slice thickness <= 1.25 mm, which balances diagnostic quality with low radiation dose. These configuration push metrics from 0.79+-0.04 sensitivity, 0.47+-0.10 specificity in low quality scans to 0.90+-0.10 sensitivity, 0.79 +- 0.13 specificity in high quality ones.

D. Gil, I. Sanchez, C. Sanchez

Universitat Autònoma de Barcelona and Computer Vision Center, Edifici O, Campus UAB, Bellaterra (Cerdanyola), 08193, Barcleona, Spain

Medical Imaging Medical Diagnosis Radiomics Computed Tomography Mixed-Effects Models Cross-Dataset Generalization

May 13, 2026cs.LG

Robust and Explainable Bicuspid Aortic Valve Diagnosis Using Stacked Ensembles on Echocardiography

Transthoracic echocardiography (TTE) is the first-line imaging modality for diagnosing bicuspid aortic valve (BAV), yet diagnostic performance varies with operator expertise and image quality. We developed an explainable AI model that distinguishes BAV from tricuspid aortic valves (TAV) using routinely acquired parasternal long-axis (PLAX) cine loops. A multi-backbone video ensemble was trained and evaluated using a leakage-aware, stratified outer cross-validation protocol on

N{=}90

patient studies (48 BAV, 42 TAV). Across fixed outer splits and 10 random seeds, the calibrated stacked ensemble achieved an outer-CV F1-score of

0.907

and recall of

0.877

. Frame-level Grad-CAM localized salient evidence to the aortic root and leaflet plane, while globally aggregated SHAP values quantified each video backbone's contribution to the stacked prediction, enabling transparent, case-level auditability. These findings indicate that PLAX-based video ensembles can support reliable BAV/TAV classification from routine echocardiographic cine loops and may facilitate earlier detection in non-specialist or resource-limited clinical settings.

Christos Chrysanthos Nikolaidis, Vasileios Sachpekidis, Nikolas Moustakidis +2

Department of Electrical and Computer Engineering, Democritus University of Thrace, Xanthi, 67100, Greece · Department of Cardiology, Papageorgiou Hospital, Thessaloniki, Greece · Department of Informatics, Aristotle University of Thessaloniki, Thessaloniki, Greece +1

Medical Diagnosis Echocardiography Medical Image Classification Explainable Medical Image Analysis

May 13, 2026cs.LG

A Unified Three-Stage Machine Learning Framework for Diabetes Detection, Subtype Discrimination, and Cognitive-Metabolic Hypothesis Testing

Diabetes mellitus affects over 537 million adults worldwide and remains a major challenge in preventive healthcare. Existing machine-learning studies primarily formulate diabetes prediction as a binary classification problem, while subtype-oriented analysis and glycaemic-cognitive associations remain comparatively underexplored. We present a reproducible three-stage machine learning framework for diabetes detection, subtype-oriented clustering, and metabolic-cognitive association analysis. In Stage 1, five supervised classifiers together with a stacking ensemble are benchmarked on the NCSU Diabetes Dataset using stratified five-fold cross-validation and evaluation metrics including ROC-AUC, balanced accuracy, recall, and F1-score. SVM-RBF and Logistic Regression achieve the highest ROC-AUC (

0.825 \pm 0.026

), while Random Forest achieves the highest accuracy (

0.762 \pm 0.030

). SHAP explainability identifies Glucose, BMI, and Age as the dominant predictive biomarkers. In Stage 2, silhouette-validated K-Means clustering (

k=2

, silhouette

\approx 0.116

) is applied to confirmed diabetic cases using Glucose, Insulin, and Age, recovering clinically plausible subtype-oriented partitions without requiring ground-truth subtype labels. In Stage 3, statistical analysis of the Ohio Longitudinal Cognitive Dataset (

n=373

) reveals a significant positive association between glycaemic control and cognitive function (

ρ_s = 0.208

,

p = 5.29 \times 10^{-5}

), which survives Holm correction. The findings support the utility of statistically grounded and interpretable ML pipelines for reproducible diabetes analytics and subtype-aware exploratory analysis.

Vishal Pandey, Ruzina Haque Laskar, Rishav Tewari

Independent Researcher · London, UK · Research Scientist - B +4

Medical Diagnosis Clinical Prediction

May 13, 2026cs.CV

PRA-PoE: Robust Multimodal Alzheimer's Diagnosis with Arbitrary Missing Modalities

Missing modalities are prevalent in real-world Alzheimer's disease (AD) assessment and pose a significant challenge to multimodal learning, particularly when the distribution of observed modality subsets differs between training and deployment. Such missingness pattern mismatch induces a conditional representation shift across modality subsets. Existing approaches that rely on implicit imputation or modality synthesis often fail to explicitly model modality availability and uncertainty, leading to overconfident dependence on synthesized features, reduced robustness, and miscalibrated uncertainty estimates. To address these limitations, we propose PRA-PoE, an incomplete multimodal learning framework that is equipped with Prototype-anchored Representation Alignment (PRA) and an Uncertainty-aware Product of Experts (UA-PoE) fusion mechanism. First, PRA uses learnable global prototypes and availability-conditioned tokens to encode modality availability, distinguish observed from missing modalities, re-synthesize features for missing modalities, and adaptively refine observed representations to align latent spaces across modality subsets, with the goal of reducing representation shift under varying missingness patterns. Second, UA-PoE models each modality as a Gaussian expert and performs closed-form Product of Experts fusion, where experts with higher uncertainty are automatically down-weighted via lower precision, improving uncertainty reliability. We evaluate PRA-PoE under a clinically realistic protocol by training with naturally missing data and testing on all non-empty modality combinations. PRA-PoE consistently outperforms the state-of-the-art across datasets, achieving a 5.4% relative improvement in average accuracy on ADNI and a 10.9% relative gain in average F1 on OASIS-3 over the strongest baseline across all non-empty modality subsets.

Guangqian Yang, Ye Du, Wenlong Hou +2

Department of Biomedical Engineering, The Hong Kong Polytechnic University, Hong Kong SAR, China · Department of Technology Management for Innovation, The University of Tokyo,2026 Japan · Department of Data Science and Artificial Intelligence, The Hong Kong Polytechnic University, Hong Kong SAR, China

Missing-Modality Learning Alzheimer's Disease Multimodal Robustness Medical Diagnosis Cross-Modal Alignment Learning with Missing Data+1

May 10, 2026cs.AI

Medical Model Synthesis Architectures: A Case Study

Medicine is rife with high-stakes uncertainty. Doctors routinely make clinical judgments and decisions that juggle many fundamental unknowns, like predictions about what might be causing a patients' symptoms or decisions about what treatment to try next. Despite increasing interest in developing AI systems that aid or even replace doctors in clinical settings, current systems struggle with calibrated reasoning under uncertainty, and are often deeply opaque about their reasoning. We propose a framework for AI systems that can make practically useful but formally transparent clinical predictions under uncertainty. Given a clinical situation, our framework (MedMSA) uses language models to retrieve relevant prior knowledge, but constructs a formal probabilistic model to support calibrated and verifiable inferences under uncertainty. We show how an initial proof-of-concept of this framework can be used for differential diagnosis, producing an uncertainty-weighted list of potential diagnoses that could explain a patients' symptoms, and discuss future applications and directions for applying this framework more generally for safe clinical collaborations.

Katherine M. Collins, Marlene Berke, Ilia Sucholutsky +6

MIT · University of Cambridge · Princeton University +8

Explainable Artificial Intelligence Healthcare Medical Diagnosis Clinical Reasoning Differential Diagnosis Uncertainty Calibration

May 9, 2026cs.LG

Learning predictive models for combinations of heterogeneous proteomic data sources

Multiple technologies that measure expression levels of protein mixtures in the human body offer a potential for detection and understanding the disease. The recent increase of these technologies prompts researchers to evaluate the individual and combined utility of data generated by the technologies. In this work, we study two data sources to measure the expression of protein mixtures in the human body: whole-sample MS profiling and multiplexed protein arrays. We investigate the individual and combined utility of these technologies by learning and testing a variety of classification models on the data from a pancreatic cancer study. We show that for the combination of these two (heterogeneous) datasets, classification models that work well on one of them individually fail on the combination of the two datasets. We study and propose a class of model fusion methods that acknowledge the differences and try to reap most of the benefits from their combination.

Michal Valko, Richard Pelikan, Miloš Hauskrecht

Computer Science Department University of Pittsburgh, Pittsburgh, Pennsylvania

Medical Diagnosis Multimodal Classification Multimodal Fusion

May 9, 2026cs.CV

PromptDx: Differentiable Prompt Tuning for Multimodal In-Context Alzheimer's Diagnosis

Deep learning models in medical imaging typically operate as parametric memory, diagnosing patients by recalling fixed knowledge learned during training. This contrasts sharply with clinical practice, where physicians employ analogical reasoning to diagnose new cases by referencing similar records from past exemplars. While In-Context Learning (ICL) frameworks such as Tabular Prior-Fitted Networks (TabPFN) offer a promising diagnosis-by-reference paradigm, they are designed with tabular-specific inductive priors and rely on non-differentiable preprocessing pipelines, leading to manifold mismatch and gradient fracture when applied to heterogeneous multimodal data. To address these limitations, we propose PromptDx, a novel diagnosis-by-reference framework that leverages a pre-trained TabPFN as an ICL engine while enabling seamless integration with multimodal representations. Our core contribution is a Differentiable Prompt Tuning (DPT) mechanism that aligns a Masked Multimodal Modeling module with the pre-trained ICL engine. By training a lightweight adapter as a differentiable surrogate for the engine's non-differentiable preprocessors, we enable an end-to-end optimization of multimodal prompts within the ICL paradigm. We validate our method on the Alzheimer's Disease Neuroimaging Initiative (ADNI) dataset using 3D MRI and tabular biomarkers. Experiments demonstrate that our approach outperforms traditional parametric baselines. Notably, our method achieves superior performance using only 1% context samples compared to 30% in standard ICL, demonstrating exceptional manifold condensation ability. We further validate the generalizability of our DPT framework across six tabular datasets with diverse scales. Overall, our method offers a more data-efficient and clinically aligned paradigm for Alzheimer's Disease diagnosis.

Lujia Zhong, Yihao Xia, Shuo Huang +2

Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California · Ming Hsieh Department of Electrical and Computer Engineering, Viterbi School of Engineering, University of Southern California · Alfred E. Mann Department of Biomedical Engineering, Viterbi School of Engineering, University of Southern California

Multimodal ICL Medical Diagnosis In-Context Learning Alzheimer's Disease Classification Neuroimaging Tabular ICL+1

May 8, 2026cs.AI

MPD $^2$ -Router: Mask-aware Multi-expert Prior-regularized Dual-head Deferral Router in Glaucoma Screening and Diagnosis

Learning-to-defer (L2D) can make glaucoma screening safer by routing difficult/uncertain cases to humans, yet standard formulations overlook expert availability, heterogeneous readers behavior, workload imbalance, asymmetric diagnostic harm, case difficulty from morphology and deployment shift. We introduce MPD

^2

-Router, a mask-aware multi-expert deferral framework that recasts ophthalmic triage as constrained human--AI routing: whether to defer and to which available expert. It couples a dual-head deferral/allocation policy with mask-aware Gumbel--sigmoid gating that strictly enforces per-sample availability, and fuses uncertainty, morphology, image-quality, and OOD signals. Training uses an asymmetric cost-sensitive objective with an augmented-Lagrangian deferral budget, a group-specific distribution prior, and a rank-majorization JS regularizer that jointly prevent expert collapse without forcing uniform allocation. Across three cross-national glaucoma cohorts (REFUGE, CHAKSU, ORIGA) with a frozen REFUGE-trained backbone, MPD

^2

-Router substantially lowers clinical cost and improves MCC over AI-only at a moderate deferral rate. It is Pareto-optimal in F1--MCC--cost, robust under cross-domain shift, and yields balanced expert utilization.

Wenxin Zhan

Baruch college

AI-Assisted Decision Making Learning to Defer Medical Diagnosis Decision-Focused Learning

May 8, 2026cs.LG

SGC-RML: A reliable and interpretable longitudinal assessment for PD in real-world DNS

Real-world digital Parkinson's disease assessment faces challenges such as heterogeneous modalities, cross-device bias, and incomplete labeling. Existing methods often focus on average predictive performance, lacking the reliability mechanisms needed for retrospective reliability-aware assessment - namely, determining when the model is reliable, when to reject an assessment, when to retest, and from which symptom dimensions the predictions are based. This paper proposes SGC-RML, which maps speech, gait, wearable motion, mobility tasks, and clinical variables to a shared 8-dimensional symptom node space (7 clinical symptom nodes and 1 reliability_state auxiliary node), unifying motor and non-motor representations through a symptom atlas. By jointly introducing uncertainty estimation, conformal calibration, and selective decision routing, the model can not only predict symptoms and severity but also reject assessments or suggest retests when evidence is insufficient. We validate this framework on five real-world PD datasets, covering classification, regression, event detection, and longitudinal severity prediction. Experiments show that SGC-RML achieves an MAE of 4.579 / R^2 of 0.772 on PPMI, an AUC of 0.953 on mPower, and an AUC of 0.825 on PADS. Under leak-free temporal anchoring, as few as 5 subject-specific anchors transform UCI from an essentially non-predictive subject-independent setting (motor MAE 8.38, CCC 0.02) into a calibrated longitudinal assessment (motor MAE 3.24, CCC 0.756) with split-conformal coverage held at the 0.80 target. Under the Daphnet LOSO protocol, it achieves an F1 of 0.803 / AUC of 0.872. These results demonstrate that SGC-RML provides a unified paradigm for accurate, calibrated, auditable, and symptom-interpretable retrospective longitudinal assessment of PD under incomplete multimodal conditions.

Wenbin Wei, Ruixiang Gao, Suyuan Yao +3

∗ Equal contribution. · † Corresponding author.

Selective Prediction Unified Multimodal Models Medical Diagnosis Clinical Prediction Parkinson's Disease

May 8, 2026cs.CL

MedAction: Towards Active Multi-turn Clinical Diagnostic LLMs

Most existing LLM diagnoses are evaluated on static, single-turn settings where complete patient information is provided upfront, an oversimplification of real clinical practice. We study active diagnosis: the real-life clinical process of starting from initial observation, ordering tests, interpreting results, and updating a differential diagnosis across multiple turns. Through systematic analysis, we identify three recurring failure modes in current LLMs: ungrounded test ordering, unreliable diagnostic update, and degraded multi-turn coherence. Together, these failures reveal a core deficit: existing medical training data teaches models to reason from complete information but not to act under evolving, partial evidence. To address this gap, we introduce MedAction, a tree-structured distillation pipeline that synthesizes diverse and high-quality multi-turn diagnostic trajectories via LLM-environment interaction. We propose two knowledge-graph-grounded metrics to filter trajectory quality: Disease Trajectory Consistency (DTC), which tracks whether the model's hypothesis converges toward the correct diagnosis, and Reasoning-Action Consistency (RAC), which verifies that belief updates are driven by gathered evidence. Using this pipeline, we construct MedAction-32K, a dataset of 32,681 trajectories from 2,896 PMC cases. Fine-tuning an 8B model on MedAction-32K achieves state-of-the-art performance among open-source models on both MedR-Bench and our curated MedAction-300-Hard benchmark, pushing the edge for open-source medical LLMs.

Hsin-Ling Hsu, Zizheng Wang, Donghua Zhang +9

1National Chengchi University · 2Georgetown University · University of Michigan +3

Healthcare Medical Diagnosis Clinical Reasoning LLM Agent Training Differential Diagnosis Medical LLMs

May 8, 2026cs.CL

MedExAgent: Training LLM Agents to Ask, Examine, and Diagnose in Noisy Clinical Environments

Real-world clinical diagnosis is a complex process in which the doctor is required to obtain information from both interaction with the patient and conducting medical exams. Additionally, the doctor needs to adapt to different patient personas, as well as noisy and incomplete information that can happen at any time during the process. However, existing benchmarks for medical LLMs and methods for automatic diagnosis largely simplify this process by reducing it to single-turn question answering, noise-free conversations, or sequential exam making, etc., ignoring the interactive and uncertain nature of clinical diagnosis. In this paper, we aim to address this gap by formalizing clinical diagnosis as a Partially Observable Markov Decision Process (POMDP) with three action types: questioning the patient, ordering medical exams as tool calls, and issuing a diagnosis. We also introduce a systematic noise model comprising seven patient noise types and three exam noise types. Using our proposed environment, we train an effective diagnosis agent, \textbf{MedExAgent}, through a two-stage pipeline that first performs supervised finetuning on synthetic conversations structured after the Calgary-Cambridge model for clinical interviews, and then applies DAPO to optimize a composite reward capturing diagnostic accuracy, tool call quality, and exam cost including financial cost and patient discomfort. Through extensive experiments and ablation studies, we demonstrate that MedExAgent achieves diagnostic performance comparable to larger models while maintaining cost-efficient examination strategies.

Yicheng Gao, Xiaolin Zhou, Yahan Li +2

University of Southern California · Arizona State University

Healthcare Medical Diagnosis LLM Agent Training RL for LLM Agents LLM Agent Reliability

May 7, 2026q-bio.NC

Learning Cross-Atlas Consistent Brain Disorder Representations via Disentangled Multi-Atlas Functional Connectivity Learning

Functional connectivity (FC) derived from resting-state fMRI is widely used to characterize large-scale brain network alterations in neurological and psychiatric disorders. However, FC construction critically depends on the choice of brain atlas, and different parcellations may emphasize distinct organizational features, leading to heterogeneous and sometimes inconsistent representations. Existing multi-atlas approaches partially alleviate this issue but often fuse atlas-derived features or predictions at a relatively shallow level, while single-atlas disentanglement methods do not explicitly address cross-atlas heterogeneity. We propose Multi-Atlas Disentangled Connectivity LEarning (MADCLE), a multi-branch representation learning framework that jointly encodes FC matrices derived from different brain atlases. Rather than introducing a single explicitly shared latent variable across parcellations, MADCLE learns atlas-wise disease-related representations and encourages them to be cross-atlas consistent through distributional alignment. Meanwhile, covariate-related and atlas-dependent residual factors are modeled separately using covariate similarity supervision, atlas-specific reconstruction, and decorrelation constraints, thereby reducing the leakage of non-disease and parcellation-dependent information into the disease-related embeddings. Experiments on the ADNI and ADHD-200 datasets suggest that MADCLE achieves competitive or improved performance compared with single-atlas baselines, multi-atlas GNN/Transformer models, and recent multi-atlas consistency frameworks. These results support the potential value of structured disentanglement for FC-based disorder identification under heterogeneous parcellation schemes.

Minheng Chen, Chao Cao, Jing Zhang +2

Department of Computer Science and Engineering, University of Texas at Arlington, United States · School of Computing, University of Georgia, United States

Multi-View Consistency Disentangled Representation Learning Functional Connectivity Medical Diagnosis Neuroimaging

May 7, 2026cs.CV

RAM-H1200: A Unified Evaluation and Dataset on Hand Radiographs for Rheumatoid Arthritis

Rheumatoid arthritis (RA) assessment from hand radiographs requires multi-level analysis and modeling of anatomical structures and fine-grained local pathological changes. However, existing public resources do not support such unified multi-level analysis, often lacking full-hand coverage, fine-grained annotations, and consistent integration with clinical scoring systems. In particular, annotations that enable quantitative analysis of bone erosion (BE) remain scarce. RAM-H1200 contains 1,200 hand radiographs collected from six medical centers, with multi-level annotations including (i) whole-hand bone structure instance segmentation, (ii) pixel-level BE masks, (iii) SvdH-defined joint regions of interest, and (iv) joint-level SvdH scores for both BE and joint space narrowing (JSN). It is designed to evaluate whether models can jointly capture anatomical structure, localized erosive pathology, and clinically standardized RA severity from hand radiographs. The proposed BE masks enable, for the first time, quantitative BE analysis beyond coarse categorical grading by providing explicit spatial supervision for lesion extent and morphology. To our knowledge, RAM-H1200 is the first public large-scale benchmark that jointly supports whole-hand bone structure instance segmentation, pixel-level BE delineation, and clinically grounded joint-level SvdH scoring for both BE and JSN. Results across benchmark tasks show that anatomical modeling is substantially more mature than quantitative BE analysis: whole-hand bone segmentation achieves strong performance, whereas BE segmentation remains a major open challenge. By unifying anatomical structure modeling, quantitative lesion analysis, and clinically grounded SvdH scoring, RAM-H1200 provides a single benchmark for comprehensive RA analysis on hand radiographs.

Songxiao Yang, Haolin Wang, Yao Fu +9

Institute of Science Tokyo, Tokyo, Japan · Hokkaido University, Sapporo, Japan · Southwest Jiaotong University, Chengdu, China +2

Medical Imaging Medical Diagnosis Medical Image Segmentation Medical Image Benchmarks

May 6, 2026cs.CL

Ask Before You Diagnose: Safe-Psych, a Sequential Evaluation Benchmark for LLMs in Psychiatry

Large language models (LLMs) are increasingly used for decision support in healthcare, but clinical evidence is often incomplete or evolving. When the available information is insufficient to support a reliable answer, models should request clarification or abstain rather than provide unsupported responses. Existing medical benchmarks, however, typically assume that complete information is available upfront. We introduce Safe-Psych, a sequential benchmark for evaluating how LLMs handle evolving diagnostic uncertainty in clinical psychiatry. Safe-Psych contains over 1,000 real-world psychiatric clinical notes segmented to simulate incremental evidence disclosure, with psychiatrist-derived action labels at each stage: DIAGNOSE, CLARIFY, or ABSTAIN. We evaluate multiple state-of-the-art LLMs in full-information and sequential settings. Our findings show that capability does not ensure calibration: even strong models struggle under incomplete clinical information, with under-abstention exceeding 60% for most models and safety-aware prompting reducing premature commitment only by shifting errors toward excessive abstention. In sequential evaluation, models frequently diagnose before sufficient evidence is available and rarely seek clarification unless explicitly prompted; these premature diagnoses are less accurate than on-time diagnoses. Overall, Safe-Psych reveals a limitation across the evaluated models: recognizing when clinical evidence is incomplete and additional information is needed. We release Safe-Psych to support research on improving LLM safety in healthcare.

Oriana Presacan, Andreea Grama, Larisa Irimină +6

National University of Science and Technology Politehnica Bucharest · Psychiatric Hospital Doctor Gheorghe Preda · Oslo Metropolitan University +3

Selective Prediction Healthcare Medical Diagnosis Mental Health Clinical Decision-Making LLM Safety Evaluation+1