Clinical NLP with Attention-Based Deep Learning for Multi-Disease Prediction

This paper addresses the challenges posed by the unstructured nature and high-dimensional semantic complexity of electronic health record texts. A deep learning method based on attention mechanisms is proposed to achieve unified modeling for information extraction and multi-label disease prediction. The study is conducted on the MIMIC-IV dataset. A Transformer-based architecture is used to perform representation learning over clinical text. Multi-layer self-attention mechanisms are employed to capture key medical entities and their contextual relationships. A Sigmoid-based multi-label classifier is then applied to predict multiple disease labels. The model incorporates a context-aware semantic alignment mechanism, enhancing its representational capacity in typical medical scenarios such as label co-occurrence and sparse information. To comprehensively evaluate model performance, a series of experiments were conducted, including baseline comparisons, hyperparameter sensitivity analysis, data perturbation studies, and noise injection tests. Results demonstrate that the proposed method consistently outperforms representative existing approaches across multiple performance metrics. The model maintains strong generalization under varying data scales, interference levels, and model depth configurations. The framework developed in this study offers an efficient algorithmic foundation for processing real-world clinical texts and presents practical significance for multi-label medical text modeling tasks.

KERAP: A Knowledge-Enhanced Reasoning Approach for Accurate Zero-shot Diagnosis Prediction Using Multi-agent LLMs

Medical diagnosis prediction plays a critical role in disease detection and personalized healthcare. While machine learning (ML) models have been widely adopted for this task, their reliance on supervised training limits their ability to generalize to unseen cases, particularly given the high cost of acquiring large, labeled datasets. Large language models (LLMs) have shown promise in leveraging language abilities and biomedical knowledge for diagnosis prediction. However, they often suffer from hallucinations, lack structured medical reasoning, and produce useless outputs. To address these challenges, we propose KERAP, a knowledge graph (KG)-enhanced reasoning approach that improves LLM-based diagnosis prediction through a multi-agent architecture. Our framework consists of a linkage agent for attribute mapping, a retrieval agent for structured knowledge extraction, and a prediction agent that iteratively refines diagnosis predictions. Experimental results demonstrate that KERAP enhances diagnostic reliability efficiently, offering a scalable and interpretable solution for zero-shot medical diagnosis prediction.

Classification based deep learning models for lung cancer and disease using medical images

The use of deep learning (DL) in medical image analysis has significantly improved the ability to predict lung cancer. In this study, we introduce a novel deep convolutional neural network (CNN) model, named ResNet+, which is based on the established ResNet framework. This model is specifically designed to improve the prediction of lung cancer and diseases using the images. To address the challenge of missing feature information that occurs during the downsampling process in CNNs, we integrate the ResNet-D module, a variant designed to enhance feature extraction capabilities by modifying the downsampling layers, into the traditional ResNet model. Furthermore, a convolutional attention module was incorporated into the bottleneck layers to enhance model generalization by allowing the network to focus on relevant regions of the input images. We evaluated the proposed model using five public datasets, comprising lung cancer (LC2500 $n$=3183, IQ-OTH/NCCD $n$=1336, and LCC $n$=25000 images) and lung disease (ChestXray $n$=5856, and COVIDx-CT $n$=425024 images). To address class imbalance, we used data augmentation techniques to artificially increase the representation of underrepresented classes in the training dataset. The experimental results show that ResNet+ model demonstrated remarkable accuracy/F1, reaching 98.14/98.14\% on the LC25000 dataset and 99.25/99.13\% on the IQ-OTH/NCCD dataset. Furthermore, the ResNet+ model saved computational cost compared to the original ResNet series in predicting lung cancer images. The proposed model outperformed the baseline models on publicly available datasets, achieving better performance metrics. Our codes are publicly available at https://github.com/AIPMLab/Graduation-2024/tree/main/Peng.

Robust brain age estimation from structural MRI with contrastive learning

Estimating brain age from structural MRI has emerged as a powerful tool for characterizing normative and pathological aging. In this work, we explore contrastive learning as a scalable and robust alternative to supervised approaches for brain age estimation. We introduce a novel contrastive loss function, $\mathcal{L}^{exp}$, and evaluate it across multiple public neuroimaging datasets comprising over 20,000 scans. Our experiments reveal four key findings. First, scaling pre-training on diverse, multi-site data consistently improves generalization performance, cutting external mean absolute error (MAE) nearly in half. Second, $\mathcal{L}^{exp}$ is robust to site-related confounds, maintaining low scanner-predictability as training size increases. Third, contrastive models reliably capture accelerated aging in patients with cognitive impairment and Alzheimer's disease, as shown through brain age gap analysis, ROC curves, and longitudinal trends. Lastly, unlike supervised baselines, $\mathcal{L}^{exp}$ maintains a strong correlation between brain age accuracy and downstream diagnostic performance, supporting its potential as a foundation model for neuroimaging. These results position contrastive learning as a promising direction for building generalizable and clinically meaningful brain representations.

MedFormer: Hierarchical Medical Vision Transformer with Content-Aware Dual Sparse Selection Attention

Medical image recognition serves as a key way to aid in clinical diagnosis, enabling more accurate and timely identification of diseases and abnormalities. Vision transformer-based approaches have proven effective in handling various medical recognition tasks. However, these methods encounter two primary challenges. First, they are often task-specific and architecture-tailored, limiting their general applicability. Second, they usually either adopt full attention to model long-range dependencies, resulting in high computational costs, or rely on handcrafted sparse attention, potentially leading to suboptimal performance. To tackle these issues, we present MedFormer, an efficient medical vision transformer with two key ideas. First, it employs a pyramid scaling structure as a versatile backbone for various medical image recognition tasks, including image classification and dense prediction tasks such as semantic segmentation and lesion detection. This structure facilitates hierarchical feature representation while reducing the computation load of feature maps, highly beneficial for boosting performance. Second, it introduces a novel Dual Sparse Selection Attention (DSSA) with content awareness to improve computational efficiency and robustness against noise while maintaining high performance. As the core building technique of MedFormer, DSSA is explicitly designed to attend to the most relevant content. In addition, a detailed theoretical analysis has been conducted, demonstrating that MedFormer has superior generality and efficiency in comparison to existing medical vision transformers. Extensive experiments on a variety of imaging modality datasets consistently show that MedFormer is highly effective in enhancing performance across all three above-mentioned medical image recognition tasks. The code is available at https://github.com/XiaZunhui/MedFormer.

Training Flexible Models of Genetic Variant Effects from Functional Annotations using Accelerated Linear Algebra

To understand how genetic variants in human genomes manifest in phenotypes -- traits like height or diseases like asthma -- geneticists have sequenced and measured hundreds of thousands of individuals. Geneticists use this data to build models that predict how a genetic variant impacts phenotype given genomic features of the variant, like DNA accessibility or the presence of nearby DNA-bound proteins. As more data and features become available, one might expect predictive models to improve. Unfortunately, training these models is bottlenecked by the need to solve expensive linear algebra problems because variants in the genome are correlated with nearby variants, requiring inversion of large matrices. Previous methods have therefore been restricted to fitting small models, and fitting simplified summary statistics, rather than the full likelihood of the statistical model. In this paper, we leverage modern fast linear algebra techniques to develop DeepWAS (Deep genome Wide Association Studies), a method to train large and flexible neural network predictive models to optimize likelihood. Notably, we find that larger models only improve performance when using our full likelihood approach; when trained by fitting traditional summary statistics, larger models perform no better than small ones. We find larger models trained on more features make better predictions, potentially improving disease predictions and therapeutic target identification.

Evaluating Rare Disease Diagnostic Performance in Symptom Checkers: A Synthetic Vignette Simulation Approach

Background: Symptom Checkers (SCs) provide users with personalized medical information. To prevent performance degradation from algorithm updates, SC developers must evaluate diagnostic performance changes for individual diseases before deployment. However, acquiring sufficient evaluation data for rare diseases is difficult, and manually creating numerous clinical vignettes is costly and impractical. Objective: This study proposes and validates a novel Synthetic Vignette Simulation Approach to evaluate diagnostic performance changes for individual rare diseases following SC algorithm updates. Methods: We used disease-phenotype annotations from the Human Phenotype Ontology (HPO), a knowledge database for rare diseases, to generate synthetic vignettes. With these, we simulated SC interviews to estimate the impact of algorithm updates on real-world diagnostic performance. The method's effectiveness was evaluated retrospectively by comparing estimated values with actual metric changes using the R 2(R-squared) coefficient. Results: The experiment included eight past SC algorithm updates. For updates on diseases with frequency information in HPO (n=5), the R^2 for recall@8 change was 0.831 (p=0.031), and for precision@8 change, it was 0.78 (p=0.047), indicating the method can predict post-deployment performance. In contrast, large prediction errors occurred for diseases without frequency information (n=3), highlighting its importance. The manual effort to map HPO phenotypes to SC symptoms was approximately 2 hours per disease. Conclusions: Our method enables pre-deployment evaluation of SC algorithm changes for individual rare diseases using a publicly available, expert-created knowledge base. This transparent and low-cost approach allows developers to efficiently improve diagnostic performance for rare diseases, potentially enhancing support for early diagnosis.

CKD-EHR:Clinical Knowledge Distillation for Electronic Health Records

Electronic Health Records (EHR)-based disease prediction models have demonstrated significant clinical value in promoting precision medicine and enabling early intervention. However, existing large language models face two major challenges: insufficient representation of medical knowledge and low efficiency in clinical deployment. To address these challenges, this study proposes the CKD-EHR (Clinical Knowledge Distillation for EHR) framework, which achieves efficient and accurate disease risk prediction through knowledge distillation techniques. Specifically, the large language model Qwen2.5-7B is first fine-tuned on medical knowledge-enhanced data to serve as the teacher model.It then generates interpretable soft labels through a multi-granularity attention distillation mechanism. Finally, the distilled knowledge is transferred to a lightweight BERT student model. Experimental results show that on the MIMIC-III dataset, CKD-EHR significantly outperforms the baseline model:diagnostic accuracy is increased by 9%, F1-score is improved by 27%, and a 22.2 times inference speedup is achieved. This innovative solution not only greatly improves resource utilization efficiency but also significantly enhances the accuracy and timeliness of diagnosis, providing a practical technical approach for resource optimization in clinical settings. The code and data for this research are available athttps://github.com/209506702/CKD_EHR.

A Structured Bangla Dataset of Disease-Symptom Associations to Improve Diagnostic Accuracy

Disease-symptom datasets are significant and in demand for medical research, disease diagnosis, clinical decision-making, and AI-driven health management applications. These datasets help identify symptom patterns associated with specific diseases, thus improving diagnostic accuracy and enabling early detection. The dataset presented in this study systematically compiles disease-symptom relationships from various online sources, medical literature, and publicly available health databases. The data was gathered through analyzing peer-reviewed medical articles, clinical case studies, and disease-symptom association reports. Only the verified medical sources were included in the dataset, while those from non-peer-reviewed and anecdotal sources were excluded. The dataset is structured in a tabular format, where the first column represents diseases, and the remaining columns represent symptoms. Each symptom cell contains a binary value (1 or 0), indicating whether a symptom is associated with a disease (1 for presence, 0 for absence). Thereby, this structured representation makes the dataset very useful for a wide range of applications, including machine learning-based disease prediction, clinical decision support systems, and epidemiological studies. Although there are some advancements in the field of disease-symptom datasets, there is a significant gap in structured datasets for the Bangla language. This dataset aims to bridge that gap by facilitating the development of multilingual medical informatics tools and improving disease prediction models for underrepresented linguistic communities. Further developments should include region-specific diseases and further fine-tuning of symptom associations for better diagnostic performance

MOSCARD -- Causal Reasoning and De-confounding for Multimodal Opportunistic Screening of Cardiovascular Adverse Events

Major Adverse Cardiovascular Events (MACE) remain the leading cause of mortality globally, as reported in the Global Disease Burden Study 2021. Opportunistic screening leverages data collected from routine health check-ups and multimodal data can play a key role to identify at-risk individuals. Chest X-rays (CXR) provide insights into chronic conditions contributing to major adverse cardiovascular events (MACE), while 12-lead electrocardiogram (ECG) directly assesses cardiac electrical activity and structural abnormalities. Integrating CXR and ECG could offer a more comprehensive risk assessment than conventional models, which rely on clinical scores, computed tomography (CT) measurements, or biomarkers, which may be limited by sampling bias and single modality constraints. We propose a novel predictive modeling framework - MOSCARD, multimodal causal reasoning with co-attention to align two distinct modalities and simultaneously mitigate bias and confounders in opportunistic risk estimation. Primary technical contributions are - (i) multimodal alignment of CXR with ECG guidance; (ii) integration of causal reasoning; (iii) dual back-propagation graph for de-confounding. Evaluated on internal, shift data from emergency department (ED) and external MIMIC datasets, our model outperformed single modality and state-of-the-art foundational models - AUC: 0.75, 0.83, 0.71 respectively. Proposed cost-effective opportunistic screening enables early intervention, improving patient outcomes and reducing disparities.