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
We consider the fusion of lung ultrasound images with routinely-collected clinical and demographic data for the purpose of automated tuberculosis (TB) screening using deep-learning. Such deep-learning based screening tools for TB could meaningfully support the health care system in Africa, where the burden of disease is severe and resources are constrained. Beginning with an established ResNet baseline for classification of lung ultrasound images, which achieves an area under the receiver operating characteristic (AUROC) curve of 0.91 [0.86,0.96] (95% CI), we consider the incorporation of the clinical and demographic data using three fusion approaches. We find that a simple average-based fusion of the output scores of separately-trained image and clinical data classifiers consistently matches or outperforms a more complex approach where the data is fused earlier and a combined classifier is trained. Fusing the image and the clinical classifiers in this way leads to a classifier with an overall AUROC of 0.95 [0.91,0.99] (specificity of 0.76 at sensitivity 0.93) which is an improvement of 4% absolute over the image-only baseline. We also find that greedy feature selection can be used to reduce the number of clinical and demographic inputs without sacrificing classification performance. Finally, when we differentiate between clinical and demographic data that are self-reported, that require some basic measurement or calculation, and that require a point-of-care (POC) test, we find the inclusion of the POC tests included in this study to be of minimal benefit to classification performance. We conclude that the incorporation of routinely-collected clinical and demographic data is a promising way to improve the performance of lung ultrasound based automatic classification.
Ranking-Aware Prompt Optimization for Multimodal Clinical Diagnosis
Multimodal large language models (MLLMs) are rapidly advancing clinical diagnosis, yet their adaptation pipelines remain anchored to accuracy-based objectives. Clinical data are heavily class-imbalanced: a constant-majority predictor can score above 90% accuracy while being clinically useless. We therefore evaluate and optimize for AUROC, a threshold-free score that ranks positives above negatives and is invariant to class balance. We focus on prompt optimization in MLLMs. Reflective methods such as GEPA use a binary scores matrix with one row per evaluation instance and one column per candidate prompt; cells record per-instance correctness, so the column average is accuracy and drives candidate selection. We introduce pair-level Pareto prompt evolution (Ranking-PE), which replaces each correctness row with a pairwise-ordering row over (positive, negative) instance pairs: the cell is 1 if the candidate scores the positive higher than the paired negative. The column average then equals empirical AUROC (by the Wilcoxon-Mann-Whitney identity). We apply this swap at all three layers the prompt evolution search reads from - the scores matrix that decides Pareto dominance, the per-example feedback to the reflection LM, and final candidate selection - at no extra model calls and with no surrogate loss. Across three diseases on MIMIC, accuracy-based prompt evolution can degrade ranking; Ranking-PE reverses this, beating the accuracy-based recipe by +5.8 AUROC pp on fine-tuned Qwen3-VL-8B and +16.2 pp on MedGemma-4B. Ablations examine each design component and show that a medical-grade visual backbone - via vision-encoder-tuned SFT or medical pretraining - is a prerequisite that prompt search cannot replace - our recipe extends reflective prompt evolution from text-only data to multimodal clinical decision-making.
Detail in Context: A Dual-Scale Machine Learning Framework for Mycosis Fungoides Detection
Mycosis fungoides (MF) is a rare form of cutaneous T-cell lymphoma that is often misdiagnosed in early stages due to its visual similarity to benign inflammatory dermatoses. Early and accurate diagnosis is critical for improving patient outcomes. In this paper, we propose a comprehensive diagnostic framework for automated MF detection that combines dual- scale histopathological image analysis with deep learning. To distinguish MF from other lymphoproliferative skin conditions, the proposed approach leverages a late-fusion ensemble of dual- magnification (10x and 20x) convolutional neural networks (CNNs), complemented by a random forest classifier trained on 16 clinical features. Experimental results on an expanded dataset of 6,267 images (4,306 MF; 1,961 Non-MF) across 463 patients demonstrate that strong detection performance is obtained by prioritizing higher-resolution cytological details (20x) within broader architectural context (10x). The image-based late-fusion model achieves an accuracy of 83.58% and a sensitivity of 89.13%, while the clinical random forest model achieves an accuracy of 96.6% and sensitivity of 93.8%, highlighting the po- tential of this multimodal framework as a robust clinical decision support system in dermatology. This framework addresses two distinct clinical objectives: an image-based dual-scale pipeline optimized for the early diagnostic screening of MF versus non- MF dermatoses, and a complementary clinical metadata model designed for the subsequent staging of confirmed MF cases (patch/plaque versus tumor)
Information Bottleneck-Guided Adaptive Hypergraph Transformer for Brain Disease Diagnosis
Exploring high-order correlations and long-range dependencies in brain networks holds significant value for both neuroscience research and clinical diagnosis. However, previous studies have lacked a unified integration of high-order and long-range dependency information in brain networks, and there is substantial redundancy behind various types of information. These issues limit their effectiveness in the diagnosis of brain diseases. To address this, we propose an Information Bottleneck-Guided Adaptive HyperGraph Transformer (IBAHGT). By incorporating the information bottleneck (IB) principle, this approach enables adaptive learning of high-order correlations and both short- and long-range dependencies within a unified framework for brain network analysis, achieving high-precision brain disease diagnosis. IBAHGT consists of three key components: an information bottleneck-guided adaptive hypergraph convolution, which introduces a novel hypergraph information bottleneck (HIB) principle to adaptively learn hypergraph message-passing weights between nodes and hyperedges, optimizes information flow and captures high-order information in brain networks that is maximally informative and minimally redundant (MIMR). The Transformer encoder captures global information within brain networks through the attention mechanism, specifically modeling short- and long-range dependencies. An information bottleneck-guided node-level adaptive fusion employs the IB principle to learn independent weights for each node, facilitating the fine-grained integration of high-order information and global information to obtain an efficient representation for downstream tasks. Extensive experiments demonstrate that the proposed method outperforms current state-of-the-art methods and can identify biomarkers for clinical applications.
How Medical VLMs Underutilize Their Vision Encoders: A Dermatology Perspective
Medical Vision-Language Models (VLMs) show significant promise for clinical image understanding, offering accurate diagnosis with interpretable reasoning. However, a critical performance gap exists between their strong vision encoders and the full multimodal model: in dermatology, the MedSigLIP encoder outperforms MedGemma by an average of 10.26 percentage points even when both use zero target-task labels; few-shot linear probing provides further evidence of strong visual representations. This gap motivates an investigation of how visual information is used in end-to-end diagnosis and why plausible-sounding predictions can lack grounding in image evidence. Using dermatology as our primary testbed, we systematically investigate three hypotheses for this phenomenon. We further provide a mechanistic analysis of the model's internal attention patterns, showing that a simple describe-then-decide prompting strategy increases vision attention by 30-40% during generation. Task-specific fine-tuning improves dermatology classification but reduces cross-domain medical question-answering performance in our evaluation. To address these challenges, we combine label-free prompting with low-label encoder-assisted reranking while keeping the VLM frozen. We validate the interventions across five VLM backbones in dermatology and provide supporting representation and attention analyses across additional medical modalities.
Can LLMs Value the Right Evidence? Evidence-Value Misalignment in Dynamic Medical Diagnosis
A correct diagnosis reached from insufficient or misleading evidence can pose a clinical hazard, yet outcome-based accuracy may reward such lucky guesses. We call this mismatch between diagnostic decisions and the value of available evidence Evidence-Value Misalignment (EVM). To disentangle evidential grounding independently from diagnostic accuracy, we introduce MedEVM, a dynamic benchmarking environment comprising 1,050 cases across 24 disease systems. Observations arrive turn by turn, requiring models to continuously calibrate its decision by deciding whether to wait for more evidence or submit a diagnosis. Across 9 LLMs, four interesting patterns are observed. (1) Miscalibrated evidence tracking. Making a diagnosis often fails to calibrate evidence sufficiency, even in more capable models, and even worsens in reasoning mode. (2) Misaligned diagnosis submission. Confidence in the correct diagnosis often fails to ensure timely submission despite sufficient evidence. (3) Evidence order matters. Reordering the same evidence changes diagnoses even when model confidence remains similar. (4) Misleading evidence remains influential. Added misleading evidence redirects diagnoses even after prior evidence becomes sufficient. We further verify that EVM predicts errors and that preventing premature submission improves accuracy. These findings motivate Evidence-Verified Diagnosis Harness (EVD-Harness). It decouples diagnosis generation from submission through an offline Contrastive Diagnostic Wiki and three online control stages, namely observation management, proposal and witness verification, and diagnosis submission control. Across five LLMs, EVD-Harness improves accuracy by 12.0--51.1 percentage points while mitigating EVM-related failures. Our results demonstrate that verifying evidential support before submission can make diagnostic decisions more reliable.
CLIMB: A Clinical Multimorbidity Benchmark for Diagnosing Co-occurring Conditions through Multiturn Conversations
Patients often have several co-occurring clinical conditions, and the findings needed to identify and disambiguate them emerge over the course of a consultation. Evaluating clinical reasoning in this setting requires both multi-turn interaction and multi-label diagnosis. We introduce CLIMB, a benchmark in which a doctor model interviews a simulated patient to recover a ground truth set of co-occurring clinical conditions. Cases are synthesized from clinical decision algorithms and diagnostic datasets, grounding multimorbid presentations in structured clinical knowledge. Across six frontier and open models, none recovers the exact set of conditions in more than 10% of interactive cases. Diagnostic performance declines when conditions co-occur, even when models receive the full clinical record and the true number of conditions. Interaction reduces performance further. In controlled experiments, models behave like single-hypothesis trackers: they anchor on the diagnosis suggested by the opening findings, keep questioning around it, and recover a second condition mainly when a finding in view points to it. Questioning them further does not complete the set but adds mostly wrong diagnoses. We formalise this pattern with a theoretical reference model of single-hypothesis tracking. The benchmark, generator, and evaluation code are available at https://anonymous.4open.science/r/CLIMB-8340.
SynSeq: End-to-End SYNTAX Score Prediction from Coronary Angiography Videos
The SYNTAX score is an established tool for assessing coronary artery disease and guiding revascularization treatment decisions. However, its manual estimation from coronary angiography videos by clinical experts is time-consuming and subject to inter-reader variability. While machine learning has shown promise in automating this process, prior work has primarily focused on lesion detection, characterization, or binary disease classification, leaving direct SYNTAX score prediction relatively unexplored. We propose SynSeq, a video-based method for direct SYNTAX score prediction. It combines targeted preprocessing with a tailored training strategy using a zero-inflation-aware loss and linear target scaling. Evaluated on the public CardioSyntax dataset, SynSeq significantly outperforms previous state-of-the-art methods, improving by 0.55, reducing prediction bias by 93.1% and achieving more consistent performance across annotations from three independent expert graders. In addition, SynSeq achieves a weighted -score of 0.80 for revascularization treatment recommendations, slightly below inter-expert agreement. These results demonstrate the potential of SynSeq to provide consistent, automated SYNTAX score assessment and reliable decision support for coronary revascularization planning.
LingLan: An Advancing Traditional Chinese Medicine Diagnosis LLM with Multimodal Data
Though artificial intelligence (AI) increasingly transforms modern medicine, its integration into Traditional Chinese Medicine (TCM) has been relatively slow, primarily due to TCM's reliance on holistic, subjective diagnostic methods---namely Inspection, Auscultation and Olfaction, Inquiry, and Palpation(I-AOI-P)---which are difficult to align with quantitative, standardized medical systems. In this work, we introduce a Unification Framework for Multimodal Data (UFMD), which automatically processes tongue and pulse images into structured, clinically standard descriptions, integrating multi-source diagnostic information into a unified digital record of I-AOI-P process. Building on this structured data, we create LingLan-14B, a TCM-specific large language model fine-tuned via supervised learning to emulate the diagnostic logic and workflow of I-AOI-P process. Experimental results show that our method significantly enhances diagnostic accuracy, achieving a relative improvement of 103.5% over the baseline (62.72% vs. 30.82%) and reaching an F1-score of up to 82%.
Interpretable AI plus Handheld, Portable Retinal Photographs: A Low-Cost Glaucoma Screening Solution for West Africa
Purpose: To develop and evaluate an interpretable artificial intelligence (AI) framework for glaucoma screening from low-cost portable, handheld retinal fundus photographs in a West African population and to compare its performance with clinical tabletop fundus imaging. Methods: We used data from a community-based study of 681 participants (1,362 eyes) in Nigeria, comprising 414 glaucoma, 478 glaucoma suspect, and 470 non-glaucoma eyes. Fundus photographs were acquired using the low-cost handheld, portable Volk Viva retinal camera and the Canon CR-2-AF tabletop camera. We fine-tuned component models separately to each device to perform vessel segmentation, cup and disc boundary segmentation, and feature extraction to detect optic nerve head features. A final classification model combined these components to classify scans as glaucoma, glaucoma suspect or non-glaucoma. Feature-weight analysis and Gradient-weighted Class Activation Mapping were used for interpretation. Results: The models performed well on both Volk Viva and Canon CR-2-AF images: Vessel segmentation: 0.98 Dice Coefficient (DC) (Volk) and 0.94 DC (Canon); Cup and disc segmentation: 0.95 DC (Volk) and 0.96 DC (Canon); Optic nerve head feature detection: area under the receiver operating characteristic curve (AUCs) of 0.830.03 (Volk) and 0.870.04 (Canon); Classification model: AUCs of 0.850.01 (Volk) and 0.930.01 (Canon). Reports for each image, present model decision confidence scores and decision-rationale visualizations to support clinical interpretation. Conclusions: Volk Viva results were reasonably comparable to Canon CR-2-AF in the component models and not far behind in classification. This shows that interpretable AI combined with low-cost, portable imaging may enhance community-level glaucoma screening, especially in settings with limited specialist access and resources.
Mobile Imaging Solutions for Medical Diagnosis: Trends and Applications
Advances in processing power, camera technologies, and mobile image analysis have made smartphones and other mobile devices, such as laptops, increasingly suitable for medical diagnosis and healthcare applications. Researchers have developed low-cost solutions for the early detection and monitoring of various health conditions, including eye and ENT diseases, malnutrition, heart rate variability, skin and oral conditions, and injuries, using images captured by non-medical devices such as smartphones and webcams. This survey examines existing research on mobile image-based medical diagnosis, with an emphasis on its potential to enable low-cost and accessible healthcare. We comparatively analyze state-of-the-art solutions across different healthcare application categories, examining their advantages and limitations. Based on this analysis, we identify desirable characteristics of mobile image-based diagnostic tools and highlight areas where existing approaches have made progress as well as areas requiring further research. We also discuss application-specific and common challenges and outline directions for future research. Overall, this study provides a comprehensive overview of mobile image-based healthcare solutions and their potential to support low-cost disease diagnosis and monitoring, particularly for underserved populations in remote and resource-constrained settings.
Bridging Modalities on the Cortex: Surface-based MRI to PET Translation with a Diffusion Bridge
Cortical hypometabolism measured by Fluorodeoxyglucose Positron Emission Tomography (FDG-PET) is a highly sensitive biomarker for dementia diagnosis. However, high costs, radiation exposure, and limited accessibility constrain its clinical utility. While cross-modal synthesis from Magnetic Resonance Imaging (MRI) offers a promising alternative, existing volumetric generation methods do not explicitly account for the highly folded cortical geometry, where disease-related patterns predominantly reside. To address this, we introduce a novel surface-based diffusion bridge framework DB-SUiT for MRI-to-PET translation that operates natively on the cortical manifold. A conditional Spherical U-shaped vision Transformer (SUiT) is specifically designed to model the intricate cross-modal relationships while preserving surface topology. It combines spherical convolutional encoders for multi-scale surface feature extraction with bottleneck Transformers to capture long-range spatial dependencies, while incorporating demographic and subcortical conditions to refine the synthesis. Evaluated on two datasets, including subjects with different dementia types, DB-SUiT demonstrates high-fidelity synthesis that substantially outperforms other baselines. In automated dementia classification, synthesized PET surfaces improve performance over MRI by 14.2% and PET volumes by 11.3%, approaching the performance of real PET surfaces. In a blinded reader study, synthetic PET achieved 85.5% diagnostic accuracy, compared with 75.8% for MRI and 95.2% for real PET. This further demonstrates cross-cohort and cross-pathology generalization, as the model was evaluated without retraining on an external cohort that included a dementia subtype not represented during training. Our code is available at https://github.com/ai-med/DB-SUiT.
HyperAMS-Net: Adaptive Multi-Scale Spatial Hypergraph Network for Brain Disorder Classification
Accurate classification of brain disorders from neuroimaging data remains challenging because of substantial inter-subject heterogeneity and the complex multi-scale patterns present in functional connectivity and morphological representations. To address these challenges, we propose HyperAMS-Net, a deep learning framework for brain disorder classification using neuroimaging representations derived from resting-state functional MRI or structural MRI. HyperAMS-Net integrates adaptive multi-scale convolution, hypergraph attention, spatial-channel attention, and adaptive feature fusion. Specifically, adaptive multi-scale convolution learns data-driven weights over multiple receptive fields to capture complementary patterns at different scales. Hypergraph attention models higher-order dependencies among learned feature representations through node--hyperedge--node message passing, while spatial-channel attention enhances discriminative feature learning. Adaptive feature fusion further aggregates complementary information across parallel network branches. HyperAMS-Net is evaluated on three benchmark datasets spanning distinct brain disorders: ABIDE for autism spectrum disorder, REST-meta-MDD for major depressive disorder, and ADNI for Alzheimer's disease, using 5-fold stratified cross-validation. HyperAMS-Net achieves state-of-the-art performance across all evaluated datasets, attaining the highest accuracy and AUC among the compared methods. Ablation studies further demonstrate the contribution of each proposed component, with the largest performance degradation observed when hypergraph attention is removed.
Towards Transparent Diagnostics: Investigating Architectural Trade-offs and Explainability in Malaria Detection
More than 80 countries have reported malaria cases with 610 thousand deaths and are projected to increase. Identifying malaria early and accurately helps save lives and effective way to diagnose malaria is through microscopic methods that are labor intensive and require experts with special equipment. Deep learning (DL) has shown promising results in medical diagnosis. Here, we explored various DL models: ResNet18, MobileNetV2, EfficientNet-B2, VGG19 and proposed model ResNet18+TTA (ResNet18 backbone with modified classification head and test time augmentation) for detecting malaria presence using blood smears taken from the NIH Malaria dataset. Our experiment shows MobileNetV2 achieved 96.85 % accuracy with smallest model size (8.49 MB) and fastest inference (1.35 ms). The ResNet18+TTA model achieved 97.96 % accuracy, 0.996 AUC with longest inference time (13.32 ms). Larger architecture outputs a larger model size with moderate accuracy. Upon further pruning, ResNet18+TTA model gained a slight improvement in accuracy and reduced inference time. GRAD-CAM, SHAP and LIME provide explainable AI (XAI) insights into model predictions, using explanation agreement and divergence to evaluate predictive reliability.
Potential of Artificial Intelligence Algorithms for Identification of Relevant Diagnostic and Prognostic Biomarkers of Early-Stage Liver Cancer
This study explores the use of deep learning and explainable artificial intelligence to diagnose hepatocellular carcinoma (HCC) and define effective biomarkers across five different stages of disease development using a transcriptomic biomarker HCC dataset constructed via semi-supervised learning from three source datasets. Several deep learning experiments were conducted with different feature extraction techniques and gene sets to identify the most effective features for training high-accuracy models with minimal loss. The best-performing model, using 15 selected genes with the SelectKBest algorithm, achieved 90.74% accuracy, while the model with the lowest recorded loss of 0.3187 was obtained using 20 selected genes. To address the issue of class imbalance in the dataset, a weighted training approach was conducted, and for model transparency and interpretability a SHAP-based XAI analysis provided insights into the model's decision-making, consistently finding DNAJB14 as the most influential gene. Functional validation in this study has provided compelling evidence that DNAJB14 plays an important role in the adverse properties of HCC and that its inhibition effectively reverses tumour cell migration, invasion, colony and sphere formation. The main limitation of this study is the dataset's class imbalance, and while weighted training helped mitigate this, further research and additional data are needed to guarantee model generalizability. Future studies should also explore the influence of genetic variations, environmental factors, and clinical differences on model performance across diverse populations.
MedRoundsQA: A Persona and Difficulty Aware Evaluation for Multi-Turn Medical Consultations
Medical benchmarks are dominated by single-turn, multiple-choice clinical cases that poorly reflect real consultations. Practically, clinicians elicit evidence interactively and patient communication varies widely. We introduce MedRoundsQA, a multi-turn diagnostic benchmark derived from 1,387 board-exam cases across 17 specialties. Each case is converted into a structured 24-slot clinical record, and then instantiated as controlled doctor-patient dual-agent dialogues under varying patient personas, with the underlying clinical content held fixed. We further classify cases by difficulty using model-based uncertainty to enable easy-to-hard analysis. Evaluations of fifteen LLM doctor agents show that (i) moving from a single-turn diagnosis on the standardized records to multi-turn consultations causes large degradations of roughly 13-39 points; (ii) more turns reliably improves question relevance, but diagnostic accuracy exhibits diminishing returns and typically plateaus after 6-12 turns; and (iii) patient persona differences can shift diagnosis accuracy by about 7-8 points (lowest to highest education), highlighting equity risks that single-turn benchmarks miss.
MedTRACE: Tool-Augmented Multimodal Clinical Reasoning Agents for Evidence-Grounded Decision-Making
Multimodal clinical decision-making requires reliable reasoning over heterogeneous evidence from electronic health records, medical images, and physiological signals. Existing models typically map these inputs directly to diagnoses without explicitly assessing evidence sufficiency, tool-use requirements, or diagnostic uncertainty. This paper presents MedTRACE, a tool-augmented multimodal clinical reasoning agent for evidence-grounded decision-making. MedTRACE uses modality-specific encoders to construct a unified patient-state representation and performs an iterative loop of hypothesis formation, toolaware deliberation, and evidence verification. It dynamically invokes visual grounding, evidence retrieval, and structured parsing tools to locate diagnosis-relevant regions, retrieve clinical knowledge and similar cases, and extract structured findings. The acquired evidence enters an evidence memory, where a consistency verifier confirms or revises the current hypothesis. MedTRACE outputs a diagnosis together with supporting evidence, an auditable reasoning trace, and calibrated confidence. Experiments on multiple multimodal clinical diagnosis benchmarks show that MedTRACE improves diagnostic accuracy by 5.4% and AUROC by 4.7 percentage points over the strongest baseline. It also improves evidenceselection F1 by 8.2 percentage points and visual-grounding IoU by 6.5 percentage points, reduces expected calibration error by 31.6%, and decreases unsupported diagnostic errors by 27.8%. These results demonstrate that active evidence acquisition and verification improve the accuracy, interpretability, and reliability of multimodal clinical decisionmaking.
Exponential Pixelating Integral transform with dual fractal features for enhanced chest X-ray abnormality detection
The heightened prevalence of respiratory disorders, particularly exacerbated by a significant upswing in fatalities due to the novel coronavirus, underscores the critical need for early detection and timely intervention. This imperative is paramount, possessing the potential to profoundly impact and safeguard numerous lives. Medically, chest radiography stands out as an essential and economically viable medical imaging approach for diagnosing and assessing the severity of diverse Respiratory Disorders. However, their detection in Chest X-Rays is a cumbersome task even for well-trained radiologists owing to low contrast issues, overlapping of the tissue structures, subjective variability, and the presence of noise. To address these issues, a novel analytical model termed Exponential Pixelating Integral is introduced for the automatic detection of infections in Chest X-Rays in this work. Initially, the presented Exponential Pixelating Integral enhances the pixel intensities to overcome the low-contrast issues that are then polar-transformed followed by their representation using the locally invariant Mandelbrot and Julia fractal geometries for effective distinction of structural features. The collated features labeled Exponential Pixelating Integral with dually characterized fractal features are then classified by the non-parametric multivariate adaptive regression splines to establish an ensemble model between each pair of classes for effective diagnosis of diverse diseases. Rigorous analysis of the proposed classification framework on large medical benchmarked datasets showcases its superiority over its peers by registering a higher classification accuracy and F1 scores ranging from 98.46 to 99.45% and 96.53-98.10% respectively, making it a precise and interpretable automated system for diagnosing respiratory disorders.
OmniMed-FL: A Robust Multimodal Federated Learning Framework for Clinical Diagnosis
Simultaneous assessment of medical imaging and patient records is often required in clinical diagnosis. However, standard machine learning algorithms cannot analyze these data types together. Meanwhile, compliance with HIPAA and GDPR can constrain centralized aggregation of sensitive patient data. This leaves a crucial void of secure fusion of visual and textual context across distant networks. Thus, we present OmniMed-FL, a controlled systems study of multimodal federated learning for five-class clinical condition classification (Normal, Pneumonia, COVID-19, Pleural Effusion, Cardiomegaly). Our proxy corpus pairs 3,000 public chest radiographs with 3,000 class-conditioned synthetic notes, matched by class, not by patient. The framework benchmarks eight fusion strategies, three initializations, four missing-text imputation rules, and matched federated baselines under non-IID Dirichlet partitioning across 3 to 20 hospital clients. As all notes are synthetic and pairing is not patient-level, these are descriptive proxy comparisons, not estimates of diagnostic performance or deployment readiness. Within those limits with clients () and severe skew (), local-only training achieves a macro-F1 score of 0.297, FedAvg achieves , FedProx , a matched FedMME-style one-shot ensemble , and our SCAFFOLD-AdamW adaptation , the 0.075 FedProx-FedAvg gap falling inside the wider of the two two-seed standard deviations. Over a grid, label skew costs up to 0.27 F1 whereas a near-sevenfold client increase costs at most 0.10, while bidirectional volume grows linearly to 183.5 GiB at . Multimodal fusion leads on both corpora, scoring 0.956 against 0.934 for text and 0.664 for images on the synthetic corpus and 0.906 against 0.880 and 0.737 on the radiograph corpus, for the model state of text alone.
Performance of Clinical AI System and Physicians and Frontier Language Models in primary care diagnostics
Clinical AI evaluation should encompass diagnosis and management after adaptive information gathering. We compared Doctorina, eight physicians and four standalone frontier language models in 150 synthetic Polish-language primary-care consultations. Doctorina achieved 82.0% Top-1 concordance versus 57.0% for physicians (difference, 25.0 percentage points; 95% confidence interval, 17.7-32.7) and 97.3% versus 85.0% primary-or-reference-differential concordance. Across 149 case pairs, normalized workup and treatment scores were 89.4 versus 66.9 and 83.7 versus 61.2. Doctorina had the highest diagnostic point estimates among all six groups; Kimi K3 ranked next, while Claude Opus 5 led the closely spaced management estimates of Opus, Doctorina and Kimi. A second Doctorina execution reproduced the advantages over physicians across all outcomes. Doctorina's advantage over physicians therefore extended from primary-diagnosis selection to higher-rated diagnostic workup and initial treatment after adaptive consultation.
Leveraging Cardiac Imaging to Improve ECG-Based Detection of Chagas Disease in Resource-Constrained Settings
Chagas disease is a major cause of cardiomyopathy in Latin America. Cardiac magnetic resonance (CMR) imaging can characterize its structural abnormalities, but scanners and expert readers remain scarce in endemic regions. Electrocardiography (ECG) is inexpensive and widely available, yet structural disease must be inferred indirectly from electrical signals. We propose to transfer CMR-derived structural knowledge to ECG through contrastive pre-training. Using 63,193 paired ECG-CMR examinations from the UK Biobank, we align an ECG encoder with a clinically grounded CMR embedding space using an asymmetric InfoNCE objective. Despite seeing no Chagas cases during pre-training, the resulting representation improves ECG-based Chagas detection. Across CODE-15% and SaMi-Trop, a frozen linear probe achieves an AUROC of 0.851 and sensitivity at the top 5% of predicted risk (Top5%-TPR) of 0.427 in five-fold cross-validation, compared with 0.827 and 0.377 for an unaligned ECG-FM baseline. On the PhysioNet/CinC 2025 Challenge test set, our model obtains the highest AUROC on SaMi-Trop-3 and the best ELSA-Brasil challenge score among the three top-performing methods, indicating that imaging-supervised ECG representations can generalize to populations and settings beyond the pre-training distribution.
Impact of canny edge detection preprocessing on performance of machine learning models for Parkinson's disease classification
This study investigates the classification of individuals as healthy or at risk of Parkinson's disease using machine learning (ML) models, focusing on the impact of dataset size and preprocessing techniques on model performance. Four datasets are created from an original dataset: DS_0, (normal dataset), DS_1 (DS_O subjected to Canny edge detection and Hessian filtering), DS_2 (augmented DS_0), and DS_3 (augmented DS_1). We evaluate a range of ML models-Logistic Regression (LR), Decision Tree (DT), Random Forest (RF), Gradient Boosting (GB), XGBoost (XBG), Naive Bayes (NB), Support Vector Machine (SVM), and AdaBoost (AdB)-on these datasets, analyzing prediction accuracy, model size, and prediction latency. The results show that while larger datasets lead to increased model memory footprints and prediction latencies, the Canny edge detection preprocessing supplemented by Hessian filtering (used in DS_1 and DS_3) degrades the performance of most models. In our experiment, we observe that Random Forest (RF) maintains a stable memory footprint of 61 KB across all datasets, while models like KNN and SVM show significant increases in memory usage, from 5.7-7 KB on DS_0 to 102-220 KB on DS_2, and similar increases in prediction time. Logistic Regression, Decision Tree, and Naive Bayes show stable memory footprints and fast prediction times across all datasets. XGBoost's prediction time increases from 180-200 ms on DS_0 to 700-3000 ms on DS_2 (truncated)
LLM4CKD: Large Language Models for Early Stage Chronic Kidney Disease Screening
Early screening of chronic kidney disease (CKD) is critical for timely intervention, yet most machine learning (ML) and deep learning (DL) approaches require labeled data and model training, limiting their use in real-world screening settings. This study evaluates the effectiveness of large language models (LLMs) for CKD screening under zero-shot and few-shot in-context learning settings and compares them with traditional ML and DL methods. We propose a framework that uses clinically selected tabular features and structured prompt templates to enable LLM-based inference without task-specific training. LLM performance is evaluated across multiple prompt styles, feature configurations, and data settings, and compared with standard ML, DL, and tabular foundation model (TFM) baselines, and existing CKD screening tools. The results show that LLMs can achieve competitive performance using only a small number of examples, often matching or outperforming traditional approaches in low-data settings. However, their performance remains model-dependent and less stable as input complexity increases. In contrast, ML, DL, and TFM models show more consistent improvement with larger training data. Overall, the findings highlight a trade-off between data efficiency and stability, suggesting that LLMs may serve as a flexible complementary approach for CKD screening when labeled data are limited.
NeoRed: A Knowledge-Logic-Alignment Multimodal Large Language Model for Neonatal Respiratory Disease Diagnosis
Neonatal respiratory diseases are a major cause of neonatal morbidity and mortality, posing substantial challenges in clinical practice. Despite recent advances, existing Multimodal Large Language Models (MLLMs) face two key limitations in neonatal diagnosis: (1) domain gap arising from predominantly adult training data; (2) insufficient integration of multidimensional clinical context for accurate diagnosis. To address these challenges, we collect two real-world clinical datasets (NeoCXR and NeoCXR-EV) and propose NeoRed, to the best of our knowledge, the first MLLM tailored for neonatal respiratory disease, filling the gap in neonatal diagnostic reports generation. To enhance joint diagnosis from heterogeneous clinical context and chest X-rays, we design a novel Knowledge-Logic-Alignment (KLA) framework which constrains model behavior from three perspectives: 1) Knowledge Prior Injection (KPI) incorporates neonatologist-inspired diagnostic priors into multimodal representations, guiding disease-specific attention across modalities; 2) Diagnostic Logic Constraint (DLC) aligns the semantics of generated reports with multimodal diagnostic logic; and 3) Visual Semantic Alignment (VSA) establishes semantic correspondence between visual features and imaging conclusions. Extensive experiments demonstrate that NeoRed enables accurate neonatal diagnostic reports generation, achieving ROUGE-L of 53.29% and Clinical Efficacy F1 score of 65.19% on NeoCXR, outperforming existing MLLMs. NeoRed also preserves competitive report generation performance on adult benchmarks (MIMIC-CXR and IU-Xray). Datasets will be available upon application.
Examining the Vulnerability of Multi-Agent Medical Systems to Human Interventions for Clinical Reasoning
Human interventions at fault points can alter the diagnostic accuracy of multi-agent medical systems. We defined fault points as moments in AI agent conversations, in which an agent's reasoning became most vulnerable to external influence. Using the MedQA dataset, this study analyzed simulated doctor-patient conversations to measure how interventions shifted reasoning and accuracy. Correct intervention methods showed an improvement in baseline diagnostic accuracy of up to 40%, while incorrect or bias-related interventions degraded performance by up to 6% and increased diagnostic drift and uncertainty. Beyond performance changes, our analysis revealed behavioral similarities between cognitive biases in simulated agent environments and real-world clinical practice. Examples included premature closure and susceptibility to misleading cues. Overall, these findings demonstrate that identifying and guiding fault points with human interventions may provide a mechanism for improving diagnostic robustness in multi-agent medical systems.
MR-JEPA: A General Purpose Video Foundation Model for Cardiac MRI
Cardiac magnetic resonance imaging (CMR) produces rich sequential data such as temporal cine videos and spatial LGE/mapping stacks, yet most deep learning approaches process individual 2D slices, discarding this context. We present MR-JEPA, a self-supervised video foundation model for CMR that extends LeJEPA to 3D spatiotemporal inputs through tubelet tokenization, spatiotemporal masking augmentation, and initialization from a 2D CMR foundation model. Unlike prior CMR video models limited to cine data, MR-JEPA is pretrained on multi-sequence data (cine, LGE, mapping) from 10,505 patients across two centers without annotations. We evaluate the frozen encoder on six downstream tasks using a unified multi-view gated attention architecture: LV ejection fraction, RV ejection fraction, three myocardial strains (GLS, GCS, GRS), and four-class disease detection. MR-JEPA outperforms other compared methods on all five regression tasks, including both a domain-specific CMR model pretrained on more data with text supervision and a natural-video foundation model, achieving an LV EF MAE of 4.79% (r =0.764) and a GLS MAE of 1.87 (r=0.805), with 21-27% MAE reductions over baselines on strain tasks. For disease detection, MR-JEPA achieved a macro AUG of 0.868, remaining competitive with the domain-specific baseline despite using a fully self-supervised pretraining objective. These results demonstrate the potential of a unified video encoder for robust, multi-view utilization of diverse CMR sequences in clinical cardiac quantification and diagnosis.
UniMod: Enhancing Multi-Modal Medical Diagnosis through Cross-Modality and Within-Modality Alignment
Multi-modal learning combining medical images and clinical text is promising for disease diagnosis. However, standard multi-modal training leads to shortcut learning: models exploit the easier modality (e.g., diagnostic cues in text) while neglecting harder-to-learn features (e.g., subtle visual patterns). We propose UniMod, a framework that mitigates shortcut learning by requiring each modality to predict the diagnosis on its own. It supervises image-only, text-only, and multi-modal classification simultaneously, so each modality must extract diagnostic features. We add cross-modality alignment for knowledge transfer and within-modality supervised contrastive alignment over same-diagnosis patients. On Harvard-Glaucoma, UniMod reaches 0.850 AUC, outperforming OGM-GE and Gradient Blending by 1.6-1.8%; on CheXpert Plus, it reaches 0.966 AUC, surpassing them by over 5%. UniMod also extends to 5-class multi-label diagnosis without architectural change, improving mean AUC by 0.097 over CGGM.
Decoding Phenotypes: A Framework for Fusing Genomic Language Models and Neuroimaging
Neuroimaging and genetic testing are two important clinical references for nervous system diseases, offering complementary diagnostic information. However, integrating genomic and neuroimaging data for precise disease diagnosis is challenging due to cross-modality heterogeneity. Existing imaging-genetics approaches mainly encode genetic information as hard-coded labels, which lose the local sequence context around disease-associated variants. To address this limitation, we propose GeneFuse, a multimodal learning framework that aligns genetic representations from pre-trained Genomic Language Models (GLMs) with features extracted from images. GeneFuse integrates two components: (1) Genotype-Conditioned Feature Modulation (GCFM), a FiLM-inspired module that uses genomic embeddings to modulate image feature maps; and (2) Uncertainty-aware Genomic Residual Fusion (U-GRF), a fusion strategy that uses imaging-derived predictive uncertainty to gate the contribution of genotypic features. We evaluate GeneFuse on early cognitive decline identification (NC vs. MCI) and dementia screening (NC vs. AD). In the APOE-centered setting, GeneFuse achieves AUROCs of 0.77 and 0.83, outperforming existing imaging-genetics fusion methods. These results indicate that GLM-derived genomic embeddings provide additional information to imaging.
On-Device Multi-Species Malaria Detection with Uncertainty-Calibrated Slide-Level Aggregation
Malaria remains a leading cause of mortality in resource-limited settings, where expert microscopists are scarce. Automated diagnosis based on microscopy images thus has strong potential to improve care delivery. But for an algorithm to deploy, a necessary requirement is that it meet a suite of non-obvious (from a machine learning (ML) perspective) clinical constraints. Therefore, in close consultation with a national health center we developed a malaria diagnosis pipeline which addresses key requirements listed by the health care center but typically ignored in the ML malaria literature. In particular, it includes: (i) stopping criteria (to reduce image acquisition and time-to-result); (ii) human-in-the-loop functionality (for review and accountability); (iii) multi-species discrimination (since treatment varies by species); (iv) thick film detection (standard for microscopy); (v) computationally-efficient uncertainty calculations (to aid clinician review); and (vi) an edge device platform (since internet can be spotty in this catchment area). The mobile system performs all inference on-device using YOLOv13n deployed via TensorFlow Lite. It detects four species and white blood cells from Giemsa-stained thick blood smear images, aggregating per-image detections into slide-level parasitemia with World Health Organization (WHO)-standard quantification. This paper highlights these various clinical constraints and offers methods to address them. Evaluated on 2,739 annotated images across all four species, the system achieves [email protected] of 0.863, per-image parasite count correlation of r = 0.812, slide-level r = 0.951 (soft counting, 10 images/slide), and runs entirely offline with a pipeline time of 10.27 +- 1.65 s per image.
FedDOSE: Federated Learning Framework Decomposing Site Effects for Modeling Brain Dynamic Functional Connectivity
Functional Magnetic Resonance Imaging ( fMRI ) data are often pooled into collaborative multi-site consortia, as deep learning models for analyses require large datasets to generalize well. While Federated Learning (FL) offers a privacy-preserving paradigm for collaborative training, standard approaches continue to struggle with statistical heterogeneity. In particular, site differences pose a key challenge in multi-site data settings. Additionally, existing FL approaches for fMRI rely on static Functional Connectivity ( FC), omitting dynamic information in brain networks. To address this, we propose FedDOSE, a novel framework that explicitly decomposes site differences for analysis of dynamic FC (dFC). FedDOSE introduces a Modularity-Guided Tucker Decomposition block to encode high-dimensional dFC tensors and capture modular-level spatio-temporal patterns efficiently. Class-specific prototypes are generated across all sites and subsequently aligned at the global level by using a combination of Optimal Transport (OT) barycenter formulation and Procrustes analysis. Extensive experiments for diagnosing Autism Spectrum Disorder (ASD) and Attention-Deficit Hyperactivity Disorder (ADHD) on three multi-site resting-state fMRI datasets: ABIDE-I, ABIDE-II, and ADHD-200, demonstrate that FedDOSE outperforms state-of-the-art methods in ASD and ADHD detection. Our results highlight its effectiveness in learning robust representations from multi-site datasets for reliable analysis.