A data- and compute-efficient chest X-ray foundation model beyond aggressive scaling

Foundation models for medical imaging are typically pretrained on increasingly large datasets, following a "scale-at-all-costs" paradigm. However, this strategy faces two critical challenges: large-scale medical datasets often contain substantial redundancy and severe class imbalance that bias representation learning toward over-represented patterns, and indiscriminate training regardless of heterogeneity in data quality incurs considerable computational inefficiency. Here we demonstrate that active, principled data curation during pretraining can serve as a viable, cost-effective alternative to brute-force dataset enlargement. We introduce CheXficient, a chest X-ray (CXR) foundation model that selectively prioritizes informative training samples. CheXficient is pretrained on only 22.7% of 1,235,004 paired CXR images and reports while consuming under 27.3% of the total compute budget, yet achieving comparable or superior performance to its full-data counterpart and other large-scale pretrained models. We assess CheXficient across 20 individual benchmarks spanning 5 task types, including non-adapted off-the-shelf evaluations (zero-shot findings classification and crossmodal retrieval) and adapted downstream tasks (disease prediction, semantic segmentation, and radiology report generation). Further analyses show that CheXficient systematically prioritizes under-represented training samples, improving generalizability on long-tailed or rare conditions. Overall, our work offers practical insights into the data and computation demands for efficient pretraining and downstream adaptation of medical vision-language foundation models.

Integrating Machine Learning Ensembles and Large Language Models for Heart Disease Prediction Using Voting Fusion

Cardiovascular disease is the primary cause of death globally, necessitating early identification, precise risk classification, and dependable decision-support technologies. The advent of large language models (LLMs) provides new zero-shot and few-shot reasoning capabilities, even though machine learning (ML) algorithms, especially ensemble approaches like Random Forest, XGBoost, LightGBM, and CatBoost, are excellent at modeling complex, non-linear patient data and routinely beat logistic regression. This research predicts cardiovascular disease using a merged dataset of 1,190 patient records, comparing traditional machine learning models (95.78% accuracy, ROC-AUC 0.96) with open-source large language models via OpenRouter APIs. Finally, a hybrid fusion of the ML ensemble and LLM reasoning under Gemini 2.5 Flash achieved the best results (96.62% accuracy, 0.97 AUC), showing that LLMs (78.9 % accuracy) work best when combined with ML models rather than used alone. Results show that ML ensembles achieved the highest performance (95.78% accuracy, ROC-AUC 0.96), while LLMs performed moderately in zero-shot (78.9%) and slightly better in few-shot (72.6%) settings. The proposed hybrid method enhanced the strength in uncertain situations, illustrating that ensemble ML is considered the best structured tabular prediction case, but it can be integrated with hybrid ML-LLM systems to provide a minor increase and open the way to more reliable clinical decision-support tools.

DisQ-HNet: A Disentangled Quantized Half-UNet for Interpretable Multimodal Image Synthesis Applications to Tau-PET Synthesis from T1 and FLAIR MRI

Tau positron emission tomography (tau-PET) provides an in vivo marker of Alzheimer's disease pathology, but cost and limited availability motivate MRI-based alternatives. We introduce DisQ-HNet (DQH), a framework that synthesizes tau-PET from paired T1-weighted and FLAIR MRI while exposing how each modality contributes to the prediction. The method combines (i) a Partial Information Decomposition (PID)-guided, vector-quantized encoder that partitions latent information into redundant, unique, and complementary components, and (ii) a Half-UNet decoder that preserves anatomical detail using pseudo-skip connections conditioned on structural edge cues rather than direct encoder feature reuse. Across multiple baselines (VAE, VQ-VAE, and UNet), DisQ-HNet maintains reconstruction fidelity and better preserves disease-relevant signal for downstream AD tasks, including Braak staging, tau localization, and classification. PID-based Shapley analysis provides modality-specific attribution of synthesized uptake patterns.

RhythmBERT: A Self-Supervised Language Model Based on Latent Representations of ECG Waveforms for Heart Disease Detection

Electrocardiogram (ECG) analysis is crucial for diagnosing heart disease, but most self-supervised learning methods treat ECG as a generic time series, overlooking physiologic semantics and rhythm-level structure. Existing contrastive methods utilize augmentations that distort morphology, whereas generative approaches employ fixed-window segmentation, which misaligns cardiac cycles. To address these limitations, we propose RhythmBERT, a generative ECG language model that considers ECG as a language paradigm by encoding P, QRS, and T segments into symbolic tokens via autoencoder-based latent representations. These discrete tokens capture rhythm semantics, while complementary continuous embeddings retain fine-grained morphology, enabling a unified view of waveform structure and rhythm. RhythmBERT is pretrained on approximately 800,000 unlabeled ECG recordings with a masked prediction objective, allowing it to learn contextual representations in a label-efficient manner. Evaluations show that despite using only a single lead, RhythmBERT achieves comparable or superior performance to strong 12-lead baselines. This generalization extends from prevalent conditions such as atrial fibrillation to clinically challenging cases such as subtle ST-T abnormalities and myocardial infarction. Our results suggest that considering ECG as structured language offers a scalable and physiologically aligned pathway for advancing cardiac analysis.

Enhancing Framingham Cardiovascular Risk Score Transparency through Logic-Based XAI

Cardiovascular disease (CVD) remains one of the leading global health challenges, accounting for more than 19 million deaths worldwide. To address this, several tools that aim to predict CVD risk and support clinical decision making have been developed. In particular, the Framingham Risk Score (FRS) is one of the most widely used and recommended worldwide. However, it does not explain why a patient was assigned to a particular risk category nor how it can be reduced. Due to this lack of transparency, we present a logical explainer for the FRS. Based on first-order logic and explainable artificial intelligence (XAI) fundaments, the explainer is capable of identifying a minimal set of patient attributes that are sufficient to explain a given risk classification. Our explainer also produces actionable scenarios that illustrate which modifiable variables would reduce a patient's risk category. We evaluated all possible input combinations of the FRS (over 22,000 samples) and tested them with our explainer, successfully identifying important risk factors and suggesting focused interventions for each case. The results may improve clinician trust and facilitate a wider implementation of CVD risk assessment by converting opaque scores into transparent and prescriptive insights, particularly in areas with restricted access to specialists.

Bayesian Meta-Learning with Expert Feedback for Task-Shift Adaptation through Causal Embeddings

Meta-learning methods perform well on new within-distribution tasks but often fail when adapting to out-of-distribution target tasks, where transfer from source tasks can induce negative transfer. We propose a causally-aware Bayesian meta-learning method, by conditioning task-specific priors on precomputed latent causal task embeddings, enabling transfer based on mechanistic similarity rather than spurious correlations. Our approach explicitly considers realistic deployment settings where access to target-task data is limited, and adaptation relies on noisy (expert-provided) pairwise judgments of causal similarity between source and target tasks. We provide a theoretical analysis showing that conditioning on causal embeddings controls prior mismatch and mitigates negative transfer under task shift. Empirically, we demonstrate reductions in negative transfer and improved out-of-distribution adaptation in both controlled simulations and a large-scale real-world clinical prediction setting for cross-disease transfer, where causal embeddings align with underlying clinical mechanisms.

EMAD: Evidence-Centric Grounded Multimodal Diagnosis for Alzheimer's Disease

Deep learning models for medical image analysis often act as black boxes, seldom aligning with clinical guidelines or explicitly linking decisions to supporting evidence. This is especially critical in Alzheimer's disease (AD), where predictions should be grounded in both anatomical and clinical findings. We present EMAD, a vision-language framework that generates structured AD diagnostic reports in which each claim is explicitly grounded in multimodal evidence. EMAD uses a hierarchical Sentence-Evidence-Anatomy (SEA) grounding mechanism: (i) sentence-to-evidence grounding links generated sentences to clinical evidence phrases, and (ii) evidence-to-anatomy grounding localizes corresponding structures on 3D brain MRI. To reduce dense annotation requirements, we propose GTX-Distill, which transfers grounding behavior from a teacher trained with limited supervision to a student operating on model-generated reports. We further introduce Executable-Rule GRPO, a reinforcement fine-tuning scheme with verifiable rewards that enforces clinical consistency, protocol adherence, and reasoning-diagnosis coherence. On the AD-MultiSense dataset, EMAD achieves state-of-the-art diagnostic accuracy and produces more transparent, anatomically faithful reports than existing methods. We will release code and grounding annotations to support future research in trustworthy medical vision-language models.

A Contrastive Variational AutoEncoder for NSCLC Survival Prediction with Missing Modalities

Predicting survival outcomes for non-small cell lung cancer (NSCLC) patients is challenging due to the different individual prognostic features. This task can benefit from the integration of whole-slide images, bulk transcriptomics, and DNA methylation, which offer complementary views of the patient's condition at diagnosis. However, real-world clinical datasets are often incomplete, with entire modalities missing for a significant fraction of patients. State-of-the-art models rely on available data to create patient-level representations or use generative models to infer missing modalities, but they lack robustness in cases of severe missingness. We propose a Multimodal Contrastive Variational AutoEncoder (MCVAE) to address this issue: modality-specific variational encoders capture the uncertainty in each data source, and a fusion bottleneck with learned gating mechanisms is introduced to normalize the contributions from present modalities. We propose a multi-task objective that combines survival loss and reconstruction loss to regularize patient representations, along with a cross-modal contrastive loss that enforces cross-modal alignment in the latent space. During training, we apply stochastic modality masking to improve the robustness to arbitrary missingness patterns. Extensive evaluations on the TCGA-LUAD (n=475) and TCGA-LUSC (n=446) datasets demonstrate the efficacy of our approach in predicting disease-specific survival (DSS) and its robustness to severe missingness scenarios compared to two state-of-the-art models. Finally, we bring some clarifications on multimodal integration by testing our model on all subsets of modalities, finding that integration is not always beneficial to the task.

A Hybrid Federated Learning Based Ensemble Approach for Lung Disease Diagnosis Leveraging Fusion of SWIN Transformer and CNN

The significant advancements in computational power cre- ate a vast opportunity for using Artificial Intelligence in different ap- plications of healthcare and medical science. A Hybrid FL-Enabled Ensemble Approach For Lung Disease Diagnosis Leveraging a Combination of SWIN Transformer and CNN is the combination of cutting-edge technology of AI and Federated Learning. Since, medi- cal specialists and hospitals will have shared data space, based on that data, with the help of Artificial Intelligence and integration of federated learning, we can introduce a secure and distributed system for medical data processing and create an efficient and reliable system. The proposed hybrid model enables the detection of COVID-19 and Pneumonia based on x-ray reports. We will use advanced and the latest available tech- nology offered by Tensorflow and Keras along with Microsoft-developed Vision Transformer, that can help to fight against the pandemic that the world has to fight together as a united. We focused on using the latest available CNN models (DenseNet201, Inception V3, VGG 19) and the Transformer model SWIN Transformer in order to prepare our hy- brid model that can provide a reliable solution as a helping hand for the physician in the medical field. In this research, we will discuss how the Federated learning-based Hybrid AI model can improve the accuracy of disease diagnosis and severity prediction of a patient using the real-time continual learning approach and how the integration of federated learn- ing can ensure hybrid model security and keep the authenticity of the information.

Parameter-free representations outperform single-cell foundation models on downstream benchmarks

Single-cell RNA sequencing (scRNA-seq) data exhibit strong and reproducible statistical structure. This has motivated the development of large-scale foundation models, such as TranscriptFormer, that use transformer-based architectures to learn a generative model for gene expression by embedding genes into a latent vector space. These embeddings have been used to obtain state-of-the-art (SOTA) performance on downstream tasks such as cell-type classification, disease-state prediction, and cross-species learning. Here, we ask whether similar performance can be achieved without utilizing computationally intensive deep learning-based representations. Using simple, interpretable pipelines that rely on careful normalization and linear methods, we obtain SOTA or near SOTA performance across multiple benchmarks commonly used to evaluate single-cell foundation models, including outperforming foundation models on out-of-distribution tasks involving novel cell types and organisms absent from the training data. Our findings highlight the need for rigorous benchmarking and suggest that the biology of cell identity can be captured by simple linear representations of single cell gene expression data.