Daily Papers

Agricultural disease diagnosis challenges VLMs, as conventional fine-tuning requires extensive labels, lacks interpretability, and generalizes poorly. While reasoning improves model robustness, existing methods rely on costly expert annotations and rarely address the open-ended, diverse nature of agricultural queries. To address these limitations, we propose Agri-R1, a reasoning-enhanced large model for agriculture. Our framework automates high-quality reasoning data generation via vision-language synthesis and LLM-based filtering, using only 19\% of available samples. Training employs Group Relative Policy Optimization (GRPO) with a novel reward function that integrates domain-specific lexicons and fuzzy matching to assess both correctness and linguistic flexibility in open-ended responses. Evaluated on CDDMBench, our resulting 3B-parameter model achieves performance competitive with 7B- to 13B-parameter baselines, showing a +27.9\% relative gain in disease recognition accuracy, +33.3\% in agricultural knowledge QA, and a +26.10-point improvement in cross-domain generalization over standard fine-tuning. These results suggest that automated reasoning synthesis paired with domain-aware reward design may provide a broadly applicable paradigm for RL-based VLM adaptation in data-scarce specialized domains. Our code and data are publicly available at: https://github.com/CPJ-Agricultural/Agri-R1.

Automatic disease diagnosis has become increasingly valuable in clinical practice. The advent of large language models (LLMs) has catalyzed a paradigm shift in artificial intelligence, with growing evidence supporting the efficacy of LLMs in diagnostic tasks. Despite the increasing attention in this field, a holistic view is still lacking. Many critical aspects remain unclear, such as the diseases and clinical data to which LLMs have been applied, the LLM techniques employed, and the evaluation methods used. In this article, we perform a comprehensive review of LLM-based methods for disease diagnosis. Our review examines the existing literature across various dimensions, including disease types and associated clinical specialties, clinical data, LLM techniques, and evaluation methods. Additionally, we offer recommendations for applying and evaluating LLMs for diagnostic tasks. Furthermore, we assess the limitations of current research and discuss future directions. To our knowledge, this is the first comprehensive review for LLM-based disease diagnosis.

Skin cancer is one of the most threatening diseases worldwide. However, diagnosing skin cancer correctly is challenging. Recently, deep learning algorithms have emerged to achieve excellent performance on various tasks. Particularly, they have been applied to the skin disease diagnosis tasks. In this paper, we present a review on deep learning methods and their applications in skin disease diagnosis. We first present a brief introduction to skin diseases and image acquisition methods in dermatology, and list several publicly available skin datasets for training and testing algorithms. Then, we introduce the conception of deep learning and review popular deep learning architectures. Thereafter, popular deep learning frameworks facilitating the implementation of deep learning algorithms and performance evaluation metrics are presented. As an important part of this article, we then review the literature involving deep learning methods for skin disease diagnosis from several aspects according to the specific tasks. Additionally, we discuss the challenges faced in the area and suggest possible future research directions. The major purpose of this article is to provide a conceptual and systematically review of the recent works on skin disease diagnosis with deep learning. Given the popularity of deep learning, there remains great challenges in the area, as well as opportunities that we can explore in the future.

Large language models (LLMs) have demonstrated impressive capabilities in disease diagnosis. However, their effectiveness in identifying rarer diseases, which are inherently more challenging to diagnose, remains an open question. Rare disease performance is critical with the increasing use of LLMs in healthcare settings. This is especially true if a primary care physician needs to make a rarer prognosis from only a patient conversation so that they can take the appropriate next step. To that end, several clinical decision support systems are designed to support providers in rare disease identification. Yet their utility is limited due to their lack of knowledge of common disorders and difficulty of use. In this paper, we propose RareScale to combine the knowledge LLMs with expert systems. We use jointly use an expert system and LLM to simulate rare disease chats. This data is used to train a rare disease candidate predictor model. Candidates from this smaller model are then used as additional inputs to black-box LLM to make the final differential diagnosis. Thus, RareScale allows for a balance between rare and common diagnoses. We present results on over 575 rare diseases, beginning with Abdominal Actinomycosis and ending with Wilson's Disease. Our approach significantly improves the baseline performance of black-box LLMs by over 17% in Top-5 accuracy. We also find that our candidate generation performance is high (e.g. 88.8% on gpt-4o generated chats).

Skin disease is one of the most common types of human diseases, which may happen to everyone regardless of age, gender or race. Due to the high visual diversity, human diagnosis highly relies on personal experience; and there is a serious shortage of experienced dermatologists in many countries. To alleviate this problem, computer-aided diagnosis with state-of-the-art (SOTA) machine learning techniques would be a promising solution. In this paper, we aim at understanding the performance of convolutional neural network (CNN) based approaches. We first build two versions of skin disease datasets from Internet images: (a) Skin-10, which contains 10 common classes of skin disease with a total of 10,218 images; (b) Skin-100, which is a larger dataset that consists of 19,807 images of 100 skin disease classes. Based on these datasets, we benchmark several SOTA CNN models and show that the accuracy of skin-100 is much lower than the accuracy of skin-10. We then implement an ensemble method based on several CNN models and achieve the best accuracy of 79.01\% for Skin-10 and 53.54\% for Skin-100. We also present an object detection based approach by introducing bounding boxes into the Skin-10 dataset. Our results show that object detection can help improve the accuracy of some skin disease classes.

Current AI-assisted skin image diagnosis has achieved dermatologist-level performance in classifying skin cancer, driven by rapid advancements in deep learning architectures. However, unlike traditional vision tasks, skin images in general present unique challenges due to the limited availability of well-annotated datasets, complex variations in conditions, and the necessity for detailed interpretations to ensure patient safety. Previous segmentation methods have sought to reduce image noise and enhance diagnostic performance, but these techniques require fine-grained, pixel-level ground truth masks for training. In contrast, with the rise of foundation models, the Segment Anything Model (SAM) has been introduced to facilitate promptable segmentation, enabling the automation of the segmentation process with simple yet effective prompts. Efforts applying SAM predominantly focus on dermatoscopy images, which present more easily identifiable lesion boundaries than clinical photos taken with smartphones. This limitation constrains the practicality of these approaches to real-world applications. To overcome the challenges posed by noisy clinical photos acquired via non-standardized protocols and to improve diagnostic accessibility, we propose a novel Cross-Attentive Fusion framework for interpretable skin lesion diagnosis. Our method leverages SAM to generate visual concepts for skin diseases using prompts, integrating local visual concepts with global image features to enhance model performance. Extensive evaluation on two skin disease datasets demonstrates our proposed method's effectiveness on lesion diagnosis and interpretability.

Developing a generalist radiology diagnosis system can greatly enhance clinical diagnostics. In this paper, we introduce RadDiag, a foundational model supporting 2D and 3D inputs across various modalities and anatomies, using a transformer-based fusion module for comprehensive disease diagnosis. Due to patient privacy concerns and the lack of large-scale radiology diagnosis datasets, we utilize high-quality, clinician-reviewed radiological images available online with diagnosis labels. Our dataset, RP3D-DiagDS, contains 40,936 cases with 195,010 scans covering 5,568 disorders (930 unique ICD-10-CM codes). Experimentally, our RadDiag achieves 95.14% AUC on internal evaluation with the knowledge-enhancement strategy. Additionally, RadDiag can be zero-shot applied or fine-tuned to external diagnosis datasets sourced from various hospitals, demonstrating state-of-the-art results. In conclusion, we show that publicly shared medical data on the Internet is a tremendous and valuable resource that can potentially support building a generalist AI for healthcare.

Rare diseases collectively affect over 300 million individuals worldwide, yet timely and accurate diagnosis remains a pervasive challenge. This is largely due to their clinical heterogeneity, low individual prevalence, and the limited familiarity most clinicians have with rare conditions. Here, we introduce DeepRare, the first rare disease diagnosis agentic system powered by a large language model (LLM), capable of processing heterogeneous clinical inputs. The system generates ranked diagnostic hypotheses for rare diseases, each accompanied by a transparent chain of reasoning that links intermediate analytic steps to verifiable medical evidence. DeepRare comprises three key components: a central host with a long-term memory module; specialized agent servers responsible for domain-specific analytical tasks integrating over 40 specialized tools and web-scale, up-to-date medical knowledge sources, ensuring access to the most current clinical information. This modular and scalable design enables complex diagnostic reasoning while maintaining traceability and adaptability. We evaluate DeepRare on eight datasets. The system demonstrates exceptional diagnostic performance among 2,919 diseases, achieving 100% accuracy for 1013 diseases. In HPO-based evaluations, DeepRare significantly outperforms other 15 methods, like traditional bioinformatics diagnostic tools, LLMs, and other agentic systems, achieving an average Recall@1 score of 57.18% and surpassing the second-best method (Reasoning LLM) by a substantial margin of 23.79 percentage points. For multi-modal input scenarios, DeepRare achieves 70.60% at Recall@1 compared to Exomiser's 53.20% in 109 cases. Manual verification of reasoning chains by clinical experts achieves 95.40% agreements. Furthermore, the DeepRare system has been implemented as a user-friendly web application http://raredx.cn/doctor.

Recent advances in reasoning with large language models (LLMs)has shown remarkable reasoning capabilities in domains such as mathematics and coding, yet their application to clinical diagnosis remains underexplored. Here, we introduce ClinicalGPT-R1, a reasoning enhanced generalist large language model for disease diagnosis. Trained on a dataset of 20,000 real-world clinical records, ClinicalGPT-R1 leverages diverse training strategies to enhance diagnostic reasoning. To benchmark performance, we curated MedBench-Hard, a challenging dataset spanning seven major medical specialties and representative diseases. Experimental results demonstrate that ClinicalGPT-R1 outperforms GPT-4o in Chinese diagnostic tasks and achieves comparable performance to GPT-4 in English settings. This comparative study effectively validates the superior performance of ClinicalGPT-R1 in disease diagnosis tasks. Resources are available at https://github.com/medfound/medfound.

Large language models (LLMs) offer a promising pre-screening tool, improving early disease detection and providing enhanced healthcare access for underprivileged communities. The early diagnosis of various diseases continues to be a significant challenge in healthcare, primarily due to the nonspecific nature of early symptoms, the shortage of expert medical practitioners, and the need for prolonged clinical evaluations, all of which can delay treatment and adversely affect patient outcomes. With impressive accuracy in prediction across a range of diseases, LLMs have the potential to revolutionize clinical pre-screening and decision-making for various medical conditions. In this work, we study the diagnostic capability of LLMs for Rheumatoid Arthritis (RA) with real world patients data. Patient data was collected alongside diagnoses from medical experts, and the performance of LLMs was evaluated in comparison to expert diagnoses for RA disease prediction. We notice an interesting pattern in disease diagnosis and find an unexpected misalignment between prediction and explanation. We conduct a series of multi-round analyses using different LLM agents. The best-performing model accurately predicts rheumatoid arthritis (RA) diseases approximately 95\% of the time. However, when medical experts evaluated the reasoning generated by the model, they found that nearly 68\% of the reasoning was incorrect. This study highlights a clear misalignment between LLMs high prediction accuracy and its flawed reasoning, raising important questions about relying on LLM explanations in clinical settings. LLMs provide incorrect reasoning to arrive at the correct answer for RA disease diagnosis.

The number of people living in this agricultural nation of ours, which is surrounded by lush greenery, is growing on a daily basis. As a result of this, the level of arable land is decreasing, as well as residential houses and industrial factories. The food crisis is becoming the main threat for us in the upcoming days. Because on the one hand, the population is increasing, and on the other hand, the amount of food crop production is decreasing due to the attack of diseases. Rice is one of the most significant cultivated crops since it provides food for more than half of the world's population. Bangladesh is dependent on rice (Oryza sativa) as a vital crop for its agriculture, but it faces a significant problem as a result of the ongoing decline in rice yield brought on by common diseases. Early disease detection is the main difficulty in rice crop cultivation. In this paper, we proposed our own dataset, which was collected from the Bangladesh field, and also applied deep learning and transfer learning models for the evaluation of the datasets. We elaborately explain our dataset and also give direction for further research work to serve society using this dataset. We applied a light CNN model and pre-trained InceptionNet-V2, EfficientNet-V2, and MobileNet-V2 models, which achieved 91.5% performance for the EfficientNet-V2 model of this work. The results obtained assaulted other models and even exceeded approaches that are considered to be part of the state of the art. It has been demonstrated by this study that it is possible to precisely and effectively identify diseases that affect rice leaves using this unbiased datasets. After analysis of the performance of different models, the proposed datasets are significant for the society for research work to provide solutions for decreasing rice leaf disease.

Alzheimer's disease (AD) is a chronic neurodegenerative disorder and the leading cause of dementia, significantly impacting cost, mortality, and burden worldwide. The advent of high-throughput omics technologies, such as genomics, transcriptomics, proteomics, and epigenomics, has revolutionized the molecular understanding of AD. Conventional AI approaches typically require the completion of all omics data at the outset to achieve optimal AD diagnosis, which are inefficient and may be unnecessary. To reduce the clinical cost and improve the accuracy of AD diagnosis using multi-omics data, we propose a novel staged graph convolutional network with uncertainty quantification (SGUQ). SGUQ begins with mRNA and progressively incorporates DNA methylation and miRNA data only when necessary, reducing overall costs and exposure to harmful tests. Experimental results indicate that 46.23% of the samples can be reliably predicted using only single-modal omics data (mRNA), while an additional 16.04% of the samples can achieve reliable predictions when combining two omics data types (mRNA + DNA methylation). In addition, the proposed staged SGUQ achieved an accuracy of 0.858 on ROSMAP dataset, which outperformed existing methods significantly. The proposed SGUQ can not only be applied to AD diagnosis using multi-omics data but also has the potential for clinical decision-making using multi-viewed data. Our implementation is publicly available at https://github.com/chenzhao2023/multiomicsuncertainty.

While conversational generative AI has shown considerable potential in enhancing decision-making for agricultural professionals, its exploration has predominantly been anchored in text-based interactions. The evolution of multimodal conversational AI, leveraging vast amounts of image-text data from diverse sources, marks a significant stride forward. However, the application of such advanced vision-language models in the agricultural domain, particularly for crop disease diagnosis, remains underexplored. In this work, we present the crop disease domain multimodal (CDDM) dataset, a pioneering resource designed to advance the field of agricultural research through the application of multimodal learning techniques. The dataset comprises 137,000 images of various crop diseases, accompanied by 1 million question-answer pairs that span a broad spectrum of agricultural knowledge, from disease identification to management practices. By integrating visual and textual data, CDDM facilitates the development of sophisticated question-answering systems capable of providing precise, useful advice to farmers and agricultural professionals. We demonstrate the utility of the dataset by finetuning state-of-the-art multimodal models, showcasing significant improvements in crop disease diagnosis. Specifically, we employed a novel finetuning strategy that utilizes low-rank adaptation (LoRA) to finetune the visual encoder, adapter and language model simultaneously. Our contributions include not only the dataset but also a finetuning strategy and a benchmark to stimulate further research in agricultural technology, aiming to bridge the gap between advanced AI techniques and practical agricultural applications. The dataset is available at https: //github.com/UnicomAI/UnicomBenchmark/tree/main/CDDMBench.

We present ECG-Expert-QA, a comprehensive multimodal dataset for evaluating diagnostic capabilities in electrocardiogram (ECG) interpretation. It combines real-world clinical ECG data with systematically generated synthetic cases, covering 12 essential diagnostic tasks and totaling 47,211 expert-validated QA pairs. These encompass diverse clinical scenarios, from basic rhythm recognition to complex diagnoses involving rare conditions and temporal changes. A key innovation is the support for multi-turn dialogues, enabling the development of conversational medical AI systems that emulate clinician-patient or interprofessional interactions. This allows for more realistic assessment of AI models' clinical reasoning, diagnostic accuracy, and knowledge integration. Constructed through a knowledge-guided framework with strict quality control, ECG-Expert-QA ensures linguistic and clinical consistency, making it a high-quality resource for advancing AI-assisted ECG interpretation. It challenges models with tasks like identifying subtle ischemic changes and interpreting complex arrhythmias in context-rich scenarios. To promote research transparency and collaboration, the dataset, accompanying code, and prompts are publicly released at https://github.com/Zaozzz/ECG-Expert-QA

Accurate and interpretable multi-disease diagnosis remains a critical challenge in medical research, particularly when leveraging heterogeneous multimodal medical data. Current approaches often rely on single-modal data, limiting their ability to comprehensively understand complex diseases. To address this, we propose MedTVT-R1, a novel Multimodal Large Language Model (MLLM) framework designed to integrate clinical multimodal data for reasoning and diagnosing multiple diseases. We construct MedTVT-QA, a curated instruction dataset that provides question-answer pairs for physiological-level interpretations and disease-level diagnoses with a Chain of Evidence approach. MedTVT-R1 incorporates a modality perception layer to capture inter-modal dependencies and adaptively weight modality contributions. Additionally, we employ Group Relative Policy Optimization (GRPO)-based Reinforcement Fine-Tuning with a Jaccard Reward function to enhance diagnostic reasoning. Experimental results demonstrate MedTVT-R1's superiority in multimodal feature utilization and multi-disease diagnosis, offering significant potential for clinical applications such as diagnostic report generation and comorbidity reasoning. The dataset and code are available at https://github.com/keke-nice/MedTVT-R1.

In recent years, the incidence of vision-threatening eye diseases has risen dramatically, necessitating scalable and accurate screening solutions. This paper presents a comprehensive study on deep learning architectures for the automated diagnosis of ocular conditions. To mitigate the "black-box" limitations of standard convolutional neural networks (CNNs), we implement a pipeline that combines deep feature extraction with interpretable image processing modules. Specifically, we focus on high-fidelity retinal vessel segmentation as an auxiliary task to guide the classification process. By grounding the model's predictions in clinically relevant morphological features, we aim to bridge the gap between algorithmic output and expert medical validation, thereby reducing false positives and improving deployment viability in clinical settings.

Electrocardiogram (ECG) interpretation is essential for cardiovascular disease diagnosis, but current automated systems often struggle with transparency and generalization to unseen conditions. To address this, we introduce ZETA, a zero-shot multimodal framework designed for interpretable ECG diagnosis aligned with clinical workflows. ZETA uniquely compares ECG signals against structured positive and negative clinical observations, which are curated through an LLM-assisted, expert-validated process, thereby mimicking differential diagnosis. Our approach leverages a pre-trained multimodal model to align ECG and text embeddings without disease-specific fine-tuning. Empirical evaluations demonstrate ZETA's competitive zero-shot classification performance and, importantly, provide qualitative and quantitative evidence of enhanced interpretability, grounding predictions in specific, clinically relevant positive and negative diagnostic features. ZETA underscores the potential of aligning ECG analysis with structured clinical knowledge for building more transparent, generalizable, and trustworthy AI diagnostic systems. We will release the curated observation dataset and code to facilitate future research.

Despite the impressive capabilities of Large Language Models (LLMs) in general medical domains, questions remain about their performance in diagnosing rare diseases. To answer this question, we aim to assess the diagnostic performance of LLMs in rare diseases, and explore methods to enhance their effectiveness in this area. In this work, we introduce a rare disease question-answering (ReDis-QA) dataset to evaluate the performance of LLMs in diagnosing rare diseases. Specifically, we collected 1360 high-quality question-answer pairs within the ReDis-QA dataset, covering 205 rare diseases. Additionally, we annotated meta-data for each question, facilitating the extraction of subsets specific to any given disease and its property. Based on the ReDis-QA dataset, we benchmarked several open-source LLMs, revealing that diagnosing rare diseases remains a significant challenge for these models. To facilitate retrieval augmentation generation for rare disease diagnosis, we collect the first rare diseases corpus (ReCOP), sourced from the National Organization for Rare Disorders (NORD) database. Specifically, we split the report of each rare disease into multiple chunks, each representing a different property of the disease, including their overview, symptoms, causes, effects, related disorders, diagnosis, and standard therapies. This structure ensures that the information within each chunk aligns consistently with a question. Experiment results demonstrate that ReCOP can effectively improve the accuracy of LLMs on the ReDis-QA dataset by an average of 8%. Moreover, it significantly guides LLMs to generate trustworthy answers and explanations that can be traced back to existing literature.

Transfer learning has been widely utilized to mitigate the data scarcity problem in the field of Alzheimer's disease (AD). Conventional transfer learning relies on re-using models trained on AD-irrelevant tasks such as natural image classification. However, it often leads to negative transfer due to the discrepancy between the non-medical source and target medical domains. To address this, we present evidence-empowered transfer learning for AD diagnosis. Unlike conventional approaches, we leverage an AD-relevant auxiliary task, namely morphological change prediction, without requiring additional MRI data. In this auxiliary task, the diagnosis model learns the evidential and transferable knowledge from morphological features in MRI scans. Experimental results demonstrate that our framework is not only effective in improving detection performance regardless of model capacity, but also more data-efficient and faithful.

Recent advancements in Large Language Models (LLMs) have drawn increasing attention since the learned embeddings pretrained on large-scale datasets have shown powerful ability in various downstream applications. However, whether the learned knowledge by LLMs can be transferred to clinical cardiology remains unknown. In this work, we aim to bridge this gap by transferring the knowledge of LLMs to clinical Electrocardiography (ECG). We propose an approach for cardiovascular disease diagnosis and automatic ECG diagnosis report generation. We also introduce an additional loss function by Optimal Transport (OT) to align the distribution between ECG and language embedding. The learned embeddings are evaluated on two downstream tasks: (1) automatic ECG diagnosis report generation, and (2) zero-shot cardiovascular disease detection. Our approach is able to generate high-quality cardiac diagnosis reports and also achieves competitive zero-shot classification performance even compared with supervised baselines, which proves the feasibility of transferring knowledge from LLMs to the cardiac domain.

Fundus images are widely used for diagnosing various eye diseases, such as diabetic retinopathy, glaucoma, and age-related macular degeneration. However, manual analysis of fundus images is time-consuming and prone to errors. In this report, we propose a novel method for fundus detection using object detection and machine learning classification techniques. We use a YOLO_V8 to perform object detection on fundus images and locate the regions of interest (ROIs) such as optic disc, optic cup and lesions. We then use machine learning SVM classification algorithms to classify the ROIs into different DR stages based on the presence or absence of pathological signs such as exudates, microaneurysms, and haemorrhages etc. Our method achieves 84% accuracy and efficiency for fundus detection and can be applied for retinal fundus disease triage, especially in remote areas around the world.

Our research is motivated by the urgent global issue of a large population affected by retinal diseases, which are evenly distributed but underserved by specialized medical expertise, particularly in non-urban areas. Our primary objective is to bridge this healthcare gap by developing a comprehensive diagnostic system capable of accurately predicting retinal diseases solely from fundus images. However, we faced significant challenges due to limited, diverse datasets and imbalanced class distributions. To overcome these issues, we have devised innovative strategies. Our research introduces novel approaches, utilizing hybrid models combining deeper Convolutional Neural Networks (CNNs), Transformer encoders, and ensemble architectures sequentially and in parallel to classify retinal fundus images into 20 disease labels. Our overarching goal is to assess these advanced models' potential in practical applications, with a strong focus on enhancing retinal disease diagnosis accuracy across a broader spectrum of conditions. Importantly, our efforts have surpassed baseline model results, with the C-Tran ensemble model emerging as the leader, achieving a remarkable model score of 0.9166, surpassing the baseline score of 0.9. Additionally, experiments with the IEViT model showcased equally promising outcomes with improved computational efficiency. We've also demonstrated the effectiveness of dynamic patch extraction and the integration of domain knowledge in computer vision tasks. In summary, our research strives to contribute significantly to retinal disease diagnosis, addressing the critical need for accessible healthcare solutions in underserved regions while aiming for comprehensive and accurate disease prediction.

Alzheimer's disease (AD) is a progressive and incurable neurodegenerative disease which destroys brain cells and causes loss to patient's memory. An early detection can prevent the patient from further damage of the brain cells and hence avoid permanent memory loss. In past few years, various automatic tools and techniques have been proposed for diagnosis of AD. Several methods focus on fast, accurate and early detection of the disease to minimize the loss to patients mental health. Although machine learning and deep learning techniques have significantly improved medical imaging systems for AD by providing diagnostic performance close to human level. But the main problem faced during multi-class classification is the presence of highly correlated features in the brain structure. In this paper, we have proposed a smart and accurate way of diagnosing AD based on a two-dimensional deep convolutional neural network (2D-DCNN) using imbalanced three-dimensional MRI dataset. Experimental results on Alzheimer Disease Neuroimaging Initiative magnetic resonance imaging (MRI) dataset confirms that the proposed 2D-DCNN model is superior in terms of accuracy, efficiency, and robustness. The model classifies MRI into three categories: AD, mild cognitive impairment, and normal control: and has achieved 99.89% classification accuracy with imbalanced classes. The proposed model exhibits noticeable improvement in accuracy as compared to the state-fo-the-art methods.

As the prevalence of Alzheimer's disease (AD) rises, improving mechanistic insight from non-invasive biomarkers is increasingly critical. Recent work suggests that circuit-level brain alterations manifest as changes in electroencephalography (EEG) spectral features detectable by machine learning. However, conventional deep learning approaches for EEG-based AD detection are computationally intensive and mechanistically opaque. Spiking neural networks (SNNs) offer a biologically plausible and energy-efficient alternative, yet their application to AD diagnosis remains largely unexplored. We propose a neuro-bridge framework that links data-driven learning with minimal, biophysically grounded simulations, enabling bidirectional interpretation between machine learning signatures and circuit-level mechanisms in AD. Using resting-state clinical EEG, we train an SNN classifier that achieves competitive performance (AUC = 0.839) and identifies the aperiodic 1/f slope as a key discriminative marker. The 1/f slope reflects excitation-inhibition balance. To interpret this mechanistically, we construct spiking network simulations in which inhibitory-to-excitatory synaptic ratios are systematically varied to emulate healthy, mild cognitive impairment, and AD-like states. Using both membrane potential-based and synaptic current-based EEG proxies, we reproduce empirical spectral slowing and altered alpha organization. Incorporating empirical functional connectivity priors into multi-subnetwork simulations further enhances spectral differentiation, demonstrating that large-scale network topology constrains EEG signatures more strongly than excitation-inhibition balance alone. Overall, this neuro-bridge approach connects SNN-based classification with interpretable circuit simulations, advancing mechanistic understanding of EEG biomarkers while enabling scalable, explainable AD detection.

Rare diseases affect hundreds of millions worldwide, yet diagnosis often spans years. Convectional pipelines decouple noisy evidence extraction from downstream inferential diagnosis, and general/medical large language models (LLMs) face scarce real world electronic health records (EHRs), stale domain knowledge, and hallucinations. We assemble a large, domain specialized clinical corpus and a clinician validated reasoning set, and develop RareSeek R1 via staged instruction tuning, chain of thought learning, and graph grounded retrieval. Across multicenter EHR narratives and public benchmarks, RareSeek R1 attains state of the art accuracy, robust generalization, and stability under noisy or overlapping phenotypes. Augmented retrieval yields the largest gains when narratives pair with prioritized variants by resolving ambiguity and aligning candidates to mechanisms. Human studies show performance on par with experienced physicians and consistent gains in assistive use. Notably, transparent reasoning highlights decisive non phenotypic evidence (median 23.1%, such as imaging, interventions, functional tests) underpinning many correct diagnoses. This work advances a narrative first, knowledge integrated reasoning paradigm that shortens the diagnostic odyssey and enables auditable, clinically translatable decision support.

Pancreatic cancer is one of the leading causes of cancer-related death. Accurate detection, segmentation, and differential diagnosis of the full taxonomy of pancreatic lesions, i.e., normal, seven major types of lesions, and other lesions, is critical to aid the clinical decision-making of patient management and treatment. However, existing works focus on segmentation and classification for very specific lesion types (PDAC) or groups. Moreover, none of the previous work considers using lesion prevalence-related non-imaging patient information to assist the differential diagnosis. To this end, we develop a meta-information-aware dual-path transformer and exploit the feasibility of classification and segmentation of the full taxonomy of pancreatic lesions. Specifically, the proposed method consists of a CNN-based segmentation path (S-path) and a transformer-based classification path (C-path). The S-path focuses on initial feature extraction by semantic segmentation using a UNet-based network. The C-path utilizes both the extracted features and meta-information for patient-level classification based on stacks of dual-path transformer blocks that enhance the modeling of global contextual information. A large-scale multi-phase CT dataset of 3,096 patients with pathology-confirmed pancreatic lesion class labels, voxel-wise manual annotations of lesions from radiologists, and patient meta-information, was collected for training and evaluations. Our results show that our method can enable accurate classification and segmentation of the full taxonomy of pancreatic lesions, approaching the accuracy of the radiologist's report and significantly outperforming previous baselines. Results also show that adding the common meta-information, i.e., gender and age, can boost the model's performance, thus demonstrating the importance of meta-information for aiding pancreatic disease diagnosis.

Chest X-ray imaging is crucial for diagnosing pulmonary and cardiac diseases, yet its interpretation demands extensive clinical experience and suffers from inter-observer variability. While deep learning models offer high diagnostic accuracy, their black-box nature hinders clinical adoption in high-stakes medical settings. To address this, we propose X-Ray-CoT (Chest X-Ray Chain-of-Thought), a novel framework leveraging Vision-Language Large Models (LVLMs) for intelligent chest X-ray diagnosis and interpretable report generation. X-Ray-CoT simulates human radiologists' "chain-of-thought" by first extracting multi-modal features and visual concepts, then employing an LLM-based component with a structured Chain-of-Thought prompting strategy to reason and produce detailed natural language diagnostic reports. Evaluated on the CORDA dataset, X-Ray-CoT achieves competitive quantitative performance, with a Balanced Accuracy of 80.52% and F1 score of 78.65% for disease diagnosis, slightly surpassing existing black-box models. Crucially, it uniquely generates high-quality, explainable reports, as validated by preliminary human evaluations. Our ablation studies confirm the integral role of each proposed component, highlighting the necessity of multi-modal fusion and CoT reasoning for robust and transparent medical AI. This work represents a significant step towards trustworthy and clinically actionable AI systems in medical imaging.

As the global food security landscape continues to evolve, the need for accurate and reliable crop disease diagnosis has never been more pressing. To address global food security concerns, we extend the widely used PlantVillage dataset with additional apple leaf disease classes, enhancing diversity and complexity. Experimental evaluations on both original and extended datasets reveal that existing models struggle with the new additions, highlighting the need for more robust and generalizable computer vision models. Test F1 scores of 99.63% and 97.87% were obtained on the original and extended datasets, respectively. Our study provides a more challenging and diverse benchmark, paving the way for the development of accurate and reliable models for identifying apple leaf diseases under varying imaging conditions. The expanded dataset is available at https://www.kaggle.com/datasets/akinyemijoseph/apple-leaf-disease-dataset-6-classes-v2 enabling future research to build upon our findings.

Alzheimer's Disease (AD) is the most common form of dementia and often difficult to diagnose due to the multifactorial etiology of dementia. Recent works on neuroimaging-based computer-aided diagnosis with deep neural networks (DNNs) showed that fusing structural magnetic resonance images (sMRI) and fluorodeoxyglucose positron emission tomography (FDG-PET) leads to improved accuracy in a study population of healthy controls and subjects with AD. However, this result conflicts with the established clinical knowledge that FDG-PET better captures AD-specific pathologies than sMRI. Therefore, we propose a framework for the systematic evaluation of multi-modal DNNs and critically re-evaluate single- and multi-modal DNNs based on FDG-PET and sMRI for binary healthy vs. AD, and three-way healthy/mild cognitive impairment/AD classification. Our experiments demonstrate that a single-modality network using FDG-PET performs better than MRI (accuracy 0.91 vs 0.87) and does not show improvement when combined. This conforms with the established clinical knowledge on AD biomarkers, but raises questions about the true benefit of multi-modal DNNs. We argue that future work on multi-modal fusion should systematically assess the contribution of individual modalities following our proposed evaluation framework. Finally, we encourage the community to go beyond healthy vs. AD classification and focus on differential diagnosis of dementia, where fusing multi-modal image information conforms with a clinical need.

Crop diseases are a major threat to food security, but their rapid identification remains difficult in many parts of the world due to the lack of the necessary infrastructure. The combination of increasing global smartphone penetration and recent advances in computer vision made possible by deep learning has paved the way for smartphone-assisted disease diagnosis. Using a public dataset of 54,306 images of diseased and healthy plant leaves collected under controlled conditions, we train a deep convolutional neural network to identify 14 crop species and 26 diseases (or absence thereof). The trained model achieves an accuracy of 99.35% on a held-out test set, demonstrating the feasibility of this approach. When testing the model on a set of images collected from trusted online sources - i.e. taken under conditions different from the images used for training - the model still achieves an accuracy of 31.4%. While this accuracy is much higher than the one based on random selection (2.6%), a more diverse set of training data is needed to improve the general accuracy. Overall, the approach of training deep learning models on increasingly large and publicly available image datasets presents a clear path towards smartphone-assisted crop disease diagnosis on a massive global scale.

Cardiac magnetic resonance (CMR) is a cornerstone for diagnosing cardiovascular disease. However, it remains underutilized due to complex, time-consuming interpretation across multi-sequences, phases, quantitative measures that heavily reliant on specialized expertise. Here, we present BAAI Cardiac Agent, a multimodal intelligent system designed for end-to-end CMR interpretation. The agent integrates specialized cardiac expert models to perform automated segmentation of cardiac structures, functional quantification, tissue characterization and disease diagnosis, and generates structured clinical reports within a unified workflow. Evaluated on CMR datasets from two hospitals (2413 patients) spanning 7-types of major cardiovascular diseases, the agent achieved an area under the receiver-operating-characteristic curve exceeding 0.93 internally and 0.81 externally. In the task of estimating left ventricular function indices, the results generated by this system for core parameters such as ejection fraction, stroke volume, and left ventricular mass are highly consistent with clinical reports, with Pearson correlation coefficients all exceeding 0.90. The agent outperformed state-of-the-art models in segmentation and diagnostic tasks, and generated clinical reports showing high concordance with expert radiologists (six readers across three experience levels). By dynamically orchestrating expert models for coordinated multimodal analysis, this agent framework enables accurate, efficient CMR interpretation and highlights its potentials for complex clinical imaging workflows. Code is available at https://github.com/plantain-herb/Cardiac-Agent.

With the increasing availability of structured and unstructured data and the swift progress of analytical techniques, Artificial Intelligence (AI) is bringing a revolution to the healthcare industry. With the increasingly indispensable role of AI in healthcare, there are growing concerns over the lack of transparency and explainability in addition to potential bias encountered by predictions of the model. This is where Explainable Artificial Intelligence (XAI) comes into the picture. XAI increases the trust placed in an AI system by medical practitioners as well as AI researchers, and thus, eventually, leads to an increasingly widespread deployment of AI in healthcare. In this paper, we present different interpretability techniques. The aim is to enlighten practitioners on the understandability and interpretability of explainable AI systems using a variety of techniques available which can be very advantageous in the health-care domain. Medical diagnosis model is responsible for human life and we need to be confident enough to treat a patient as instructed by a black-box model. Our paper contains examples based on the heart disease dataset and elucidates on how the explainability techniques should be preferred to create trustworthiness while using AI systems in healthcare.

Plant diseases pose significant threats to agriculture. It necessitates proper diagnosis and effective treatment to safeguard crop yields. To automate the diagnosis process, image segmentation is usually adopted for precisely identifying diseased regions, thereby advancing precision agriculture. Developing robust image segmentation models for plant diseases demands high-quality annotations across numerous images. However, existing plant disease datasets typically lack segmentation labels and are often confined to controlled laboratory settings, which do not adequately reflect the complexity of natural environments. Motivated by this fact, we established PlantSeg, a large-scale segmentation dataset for plant diseases. PlantSeg distinguishes itself from existing datasets in three key aspects. (1) Annotation type: Unlike the majority of existing datasets that only contain class labels or bounding boxes, each image in PlantSeg includes detailed and high-quality segmentation masks, associated with plant types and disease names. (2) Image source: Unlike typical datasets that contain images from laboratory settings, PlantSeg primarily comprises in-the-wild plant disease images. This choice enhances the practical applicability, as the trained models can be applied for integrated disease management. (3) Scale: PlantSeg is extensive, featuring 11,400 images with disease segmentation masks and an additional 8,000 healthy plant images categorized by plant type. Extensive technical experiments validate the high quality of PlantSeg's annotations. This dataset not only allows researchers to evaluate their image classification methods but also provides a critical foundation for developing and benchmarking advanced plant disease segmentation algorithms.

Magnetic resonance imaging (MRI) is the gold standard for brain imaging. Deep learning (DL) algorithms have been proposed to aid in the diagnosis of diseases such as Alzheimer's disease (AD) from MRI scans. However, DL algorithms can suffer from shortcut learning, in which spurious features, not directly related to the output label, are used for prediction. When these features are related to protected attributes, they can lead to performance bias against underrepresented protected groups, such as those defined by race and sex. In this work, we explore the potential for shortcut learning and demographic bias in DL based AD diagnosis from MRI. We first investigate if DL algorithms can identify race or sex from 3D brain MRI scans to establish the presence or otherwise of race and sex based distributional shifts. Next, we investigate whether training set imbalance by race or sex can cause a drop in model performance, indicating shortcut learning and bias. Finally, we conduct a quantitative and qualitative analysis of feature attributions in different brain regions for both the protected attribute and AD classification tasks. Through these experiments, and using multiple datasets and DL models (ResNet and SwinTransformer), we demonstrate the existence of both race and sex based shortcut learning and bias in DL based AD classification. Our work lays the foundation for fairer DL diagnostic tools in brain MRI. The code is provided at https://github.com/acharaakshit/ShortMR

In standard hospital blood tests, the traditional process requires doctors to manually isolate leukocytes from microscopic images of patients' blood using microscopes. These isolated leukocytes are then categorized via automatic leukocyte classifiers to determine the proportion and volume of different types of leukocytes present in the blood samples, aiding disease diagnosis. This methodology is not only time-consuming and labor-intensive, but it also has a high propensity for errors due to factors such as image quality and environmental conditions, which could potentially lead to incorrect subsequent classifications and misdiagnosis. To address these issues, this paper proposes an innovative method of leukocyte detection: the Multi-level Feature Fusion and Deformable Self-attention DETR (MFDS-DETR). To tackle the issue of leukocyte scale disparity, we designed the High-level Screening-feature Fusion Pyramid (HS-FPN), enabling multi-level fusion. This model uses high-level features as weights to filter low-level feature information via a channel attention module and then merges the screened information with the high-level features, thus enhancing the model's feature expression capability. Further, we address the issue of leukocyte feature scarcity by incorporating a multi-scale deformable self-attention module in the encoder and using the self-attention and cross-deformable attention mechanisms in the decoder, which aids in the extraction of the global features of the leukocyte feature maps. The effectiveness, superiority, and generalizability of the proposed MFDS-DETR method are confirmed through comparisons with other cutting-edge leukocyte detection models using the private WBCDD, public LISC and BCCD datasets. Our source code and private WBCCD dataset are available at https://github.com/JustlfC03/MFDS-DETR.

Despite progress in AI-based plant diagnostics, sugarcane farmers in low-resource regions remain vulnerable to leaf diseases due to the lack of scalable, efficient, and interpretable tools. Many deep learning models fail to generalize under real-world conditions and require substantial computational resources, limiting their use in resource-constrained regions. In this paper, we present SugarcaneLD-BD, a curated dataset for sugarcane leaf-disease classification; SugarcaneShuffleNet, an optimized lightweight model for rapid on-device diagnosis; and SugarcaneAI, a Progressive Web Application for field deployment. SugarcaneLD-BD contains 638 curated images across five classes, including four major sugarcane diseases, collected in Bangladesh under diverse field conditions and verified by expert pathologists. To enhance diversity, we combined SugarcaneLD-BD with two additional datasets, yielding a larger and more representative corpus. Our optimized model, SugarcaneShuffleNet, offers the best trade-off between speed and accuracy for real-time, on-device diagnosis. This 9.26 MB model achieved 98.02% accuracy, an F1-score of 0.98, and an average inference time of 4.14 ms per image. For comparison, we fine-tuned five other lightweight convolutional neural networks: MnasNet, EdgeNeXt, EfficientNet-Lite, MobileNet, and SqueezeNet via transfer learning and Bayesian optimization. MnasNet and EdgeNeXt achieved comparable accuracy to SugarcaneShuffleNet, but required significantly more parameters, memory, and computation, limiting their suitability for low-resource deployment. We integrate SugarcaneShuffleNet into SugarcaneAI, delivering Grad-CAM-based explanations in the field. Together, these contributions offer a diverse benchmark, efficient models for low-resource environments, and a practical tool for sugarcane disease classification. It spans varied lighting, backgrounds and devices used on-farm

Uncertainty estimation is critical for cost-sensitive deep-learning applications (i.e. disease diagnosis). It is very challenging partly due to the inaccessibility of uncertainty groundtruth in most datasets. Previous works proposed to estimate the uncertainty from softmax calibration, Monte Carlo sampling, subjective logic and so on. However, these existing methods tend to be over-confident about their predictions with unreasonably low overall uncertainty, which originates from the imbalance between positive (correct classifications) and negative (incorrect classifications) samples. For this issue, we firstly propose the distributional imbalance to model the imbalance in uncertainty estimation as two kinds of distribution biases, and secondly propose Balanced True Class Probability (BTCP) framework, which learns an uncertainty estimator with a novel Distributional Focal Loss (DFL) objective. Finally, we evaluate the BTCP in terms of failure prediction and out-of-distribution (OOD) detection on multiple datasets. The experimental results show that BTCP outperforms other uncertainty estimation methods especially in identifying incorrect classifications.

Modern Artificial Intelligence (AI) increasingly relies on multi-agent architectures that blend visual and language understanding. Yet, a pressing challenge remains: How can we trust these agents especially in zero-shot settings with no fine-tuning? We introduce a novel modular Agentic AI visual classification framework that integrates generalist multimodal agents with a non-visual reasoning orchestrator and a Retrieval-Augmented Generation (RAG) module. Applied to apple leaf disease diagnosis, we benchmark three configurations: (I) zero-shot with confidence-based orchestration, (II) fine-tuned agents with improved performance, and (III) trust-calibrated orchestration enhanced by CLIP-based image retrieval and re-evaluation loops. Using confidence calibration metrics (ECE, OCR, CCC), the orchestrator modulates trust across agents. Our results demonstrate a 77.94\% accuracy improvement in the zero-shot setting using trust-aware orchestration and RAG, achieving 85.63\% overall. GPT-4o showed better calibration, while Qwen-2.5-VL displayed overconfidence. Furthermore, image-RAG grounded predictions with visually similar cases, enabling correction of agent overconfidence via iterative re-evaluation. The proposed system separates perception (vision agents) from meta-reasoning (orchestrator), enabling scalable and interpretable multi-agent AI. This blueprint is extensible to diagnostics, biology, and other trust-critical domains. All models, prompts, results, and system components including the complete software source code are openly released to support reproducibility, transparency, and community benchmarking at Github: https://github.com/Applied-AI-Research-Lab/Orchestrator-Agent-Trust

Large Language Model (LLM)-based agents have demonstrated strong capabilities across a wide range of tasks, and their application in the medical domain holds particular promise due to the demand for high generalizability and reliance on interdisciplinary knowledge. However, existing medical agent systems often rely on static, manually crafted workflows that lack the flexibility to accommodate diverse diagnostic requirements and adapt to emerging clinical scenarios. Motivated by the success of automated machine learning (AutoML), this paper introduces a novel framework for the automated design of medical agent architectures. Specifically, we define a hierarchical and expressive agent search space that enables dynamic workflow adaptation through structured modifications at the node, structural, and framework levels. Our framework conceptualizes medical agents as graph-based architectures composed of diverse, functional node types and supports iterative self-improvement guided by diagnostic feedback. Experimental results on skin disease diagnosis tasks demonstrate that the proposed method effectively evolves workflow structures and significantly enhances diagnostic accuracy over time. This work represents the first fully automated framework for medical agent architecture design and offers a scalable, adaptable foundation for deploying intelligent agents in real-world clinical environments.

Vision evaluations are typically done through multi-step processes. In most contemporary fields, experts analyze images using structured, evidence-based adaptive questioning. In plant pathology, botanists inspect leaf images, identify visual cues, infer diagnostic intent, and probe further with targeted questions that adapt to species, symptoms, and severity. This structured probing is crucial for accurate disease diagnosis and treatment formulation. Yet current vision-language models are evaluated on single-turn question answering. To address this gap, we introduce PlantInquiryVQA, a benchmark for studying multi-step, intent-driven visual reasoning in botanical diagnosis. We formalize a Chain of Inquiry framework modeling diagnostic trajectories as ordered question-answer sequences conditioned on grounded visual cues and explicit epistemic intent. We release a dataset of 24,950 expert-curated plant images and 138,068 question-answer pairs annotated with visual grounding, severity labels, and domain-specific reasoning templates. Evaluations on top-tier Multimodal Large Language Models reveal that while they describe visual symptoms adequately, they struggle with safe clinical reasoning and accurate diagnosis. Importantly, structured question-guided inquiry significantly improves diagnostic correctness, reduces hallucination, and increases reasoning efficiency. We hope PlantInquiryVQA serves as a foundational benchmark in advancing research to train diagnostic agents to reason like expert botanists rather than static classifiers.

High-resolution segmentation is critical for precise disease diagnosis by extracting fine-grained morphological details. Existing hierarchical encoder-decoder frameworks have demonstrated remarkable adaptability across diverse medical segmentation tasks. While beneficial, they usually require the huge computation and memory cost when handling large-size segmentation, which limits their applications in foundation model building and real-world clinical scenarios. To address this limitation, we propose a holistically efficient framework for high-resolution medical image segmentation, called HER-Seg. Specifically, we first devise a computation-efficient image encoder (CE-Encoder) to model long-range dependencies with linear complexity while maintaining sufficient representations. In particular, we introduce the dual-gated linear attention (DLA) mechanism to perform cascaded token filtering, selectively retaining important tokens while ignoring irrelevant ones to enhance attention computation efficiency. Then, we introduce a memory-efficient mask decoder (ME-Decoder) to eliminate the demand for the hierarchical structure by leveraging cross-scale segmentation decoding. Extensive experiments reveal that HER-Seg outperforms state-of-the-arts in high-resolution medical 2D, 3D and video segmentation tasks. In particular, our HER-Seg requires only 0.59GB training GPU memory and 9.39G inference FLOPs per 1024times1024 image, demonstrating superior memory and computation efficiency. The code is available at https://github.com/xq141839/HER-Seg.

Generalist Large Language Models (LLMs), such as GPT-4, have shown considerable promise in various domains, including medical diagnosis. Rare diseases, affecting approximately 300 million people worldwide, often have unsatisfactory clinical diagnosis rates primarily due to a lack of experienced physicians and the complexity of differentiating among many rare diseases. In this context, recent news such as "ChatGPT correctly diagnosed a 4-year-old's rare disease after 17 doctors failed" underscore LLMs' potential, yet underexplored, role in clinically diagnosing rare diseases. To bridge this research gap, we introduce RareBench, a pioneering benchmark designed to systematically evaluate the capabilities of LLMs on 4 critical dimensions within the realm of rare diseases. Meanwhile, we have compiled the largest open-source dataset on rare disease patients, establishing a benchmark for future studies in this domain. To facilitate differential diagnosis of rare diseases, we develop a dynamic few-shot prompt methodology, leveraging a comprehensive rare disease knowledge graph synthesized from multiple knowledge bases, significantly enhancing LLMs' diagnostic performance. Moreover, we present an exhaustive comparative study of GPT-4's diagnostic capabilities against those of specialist physicians. Our experimental findings underscore the promising potential of integrating LLMs into the clinical diagnostic process for rare diseases. This paves the way for exciting possibilities in future advancements in this field.

Causal graphs provide a high-level language for making mechanisms transparent. Recent work uses Large Language Models (LLMs) to recover causal graphs of external-world processes. Instead, in this paper, we use causal graphs to model LLM inference itself, providing stakeholders with a transparent view of how the model perceives and organizes high-level concepts to produce a prediction. We propose a four-phase method for constructing such graphs. Given a target LLM and a set of textual examples, our method discovers class-discriminative, human-interpretable concepts and maps each input to LLM-perceived concept states. We then introduce an MCMC-inspired counterfactual augmentation procedure that expands the sparse observational data through chains of counterfactuals. This enables stable causal discovery with σ-CG, yielding informative, interpretable graphs. We apply our method to three LLMs across disease diagnosis, sentiment analysis, and LLM-as-a-judge classification tasks. We evaluate the learned graphs for predictive fidelity and structural stability, and the MCMC-inspired augmentation for convergence and downstream utility. Our results show that the discovered causal graphs capture meaningful dependencies consistent with LLMs' reasoning. Together, this paper provides a foundation for concept-level explainability of LLMs.

The need for improved diagnostic methods in ophthalmology is acute, especially in the underdeveloped regions with limited access to specialists and advanced equipment. Therefore, we introduce VisionUnite, a novel vision-language foundation model for ophthalmology enhanced with clinical knowledge. VisionUnite has been pretrained on an extensive dataset comprising 1.24 million image-text pairs, and further refined using our proposed MMFundus dataset, which includes 296,379 high-quality fundus image-text pairs and 889,137 simulated doctor-patient dialogue instances. Our experiments indicate that VisionUnite outperforms existing generative foundation models such as GPT-4V and Gemini Pro. It also demonstrates diagnostic capabilities comparable to junior ophthalmologists. VisionUnite performs well in various clinical scenarios including open-ended multi-disease diagnosis, clinical explanation, and patient interaction, making it a highly versatile tool for initial ophthalmic disease screening. VisionUnite can also serve as an educational aid for junior ophthalmologists, accelerating their acquisition of knowledge regarding both common and underrepresented ophthalmic conditions. VisionUnite represents a significant advancement in ophthalmology, with broad implications for diagnostics, medical education, and understanding of disease mechanisms. The source code is at https://github.com/HUANGLIZI/VisionUnite.

Accurate vessel segmentation is critical for clinical applications such as disease diagnosis and surgical planning, yet remains challenging due to thin, branching structures and low texture contrast. While foundation models like the Segment Anything Model (SAM) have shown promise in generic segmentation, they perform sub-optimally on vascular structures. In this work, we present VesSAM, a powerful and efficient framework tailored for 2D vessel segmentation. VesSAM integrates (1) a convolutional adapter to enhance local texture features, (2) a multi-prompt encoder that fuses anatomical prompts, including skeletons, bifurcation points, and segment midpoints, via hierarchical cross-attention, and (3) a lightweight mask decoder to reduce jagged artifacts. We also introduce an automated pipeline to generate structured multi-prompt annotations, and curate a diverse benchmark dataset spanning 8 datasets across 5 imaging modalities. Experimental results demonstrate that VesSAM consistently outperforms state-of-the-art PEFT-based SAM variants by over 10% Dice and 13% IoU, and achieves competitive performance compared to fully fine-tuned methods, with significantly fewer parameters. VesSAM also generalizes well to out-of-distribution (OoD) settings, outperforming all baselines in average OoD Dice and IoU.

Electroencephalography (EEG) signals provide critical insights for applications in disease diagnosis and healthcare. However, the scarcity of labeled EEG data poses a significant challenge. Foundation models offer a promising solution by leveraging large-scale unlabeled data through pre-training, enabling strong performance across diverse tasks. While both temporal dynamics and inter-channel relationships are vital for understanding EEG signals, existing EEG foundation models primarily focus on the former, overlooking the latter. To address this limitation, we propose Graph-Enhanced EEG Foundation Model (GEFM), a novel foundation model for EEG that integrates both temporal and inter-channel information. Our architecture combines Graph Neural Networks (GNNs), which effectively capture relational structures, with a masked autoencoder to enable efficient pre-training. We evaluated our approach using three downstream tasks and experimented with various GNN architectures. The results demonstrate that our proposed model, particularly when employing the GCN architecture with optimized configurations, consistently outperformed baseline methods across all tasks. These findings suggest that our model serves as a robust foundation model for EEG analysis.

Image classification usually requires connectivity and access to the cloud which is often limited in many parts of the world, including hard to reach rural areas. TinyML aims to solve this problem by hosting AI assistants on constrained devices, eliminating connectivity issues by processing data within the device itself, without internet or cloud access. This pilot study explores the use of tinyML to provide healthcare support with low spec devices in low connectivity environments, focusing on diagnosis of skin diseases and the ethical use of AI assistants in a healthcare setting. To investigate this, 10,000 images of skin lesions were used to train a model for classifying visually detectable diseases (VDDs). The model weights were then offloaded to a Raspberry Pi with a webcam attached, to be used for the classification of skin lesions without internet access. It was found that the developed prototype achieved a test accuracy of 78% and a test loss of 1.08.

Availability of large and diverse medical datasets is often challenged by privacy and data sharing restrictions. For successful application of machine learning techniques for disease diagnosis, prognosis, and precision medicine, large amounts of data are necessary for model building and optimization. To help overcome such limitations in the context of brain MRI, we present NeuroSynth: a collection of generative models of normative regional volumetric features derived from structural brain imaging. NeuroSynth models are trained on real brain imaging regional volumetric measures from the iSTAGING consortium, which encompasses over 40,000 MRI scans across 13 studies, incorporating covariates such as age, sex, and race. Leveraging NeuroSynth, we produce and offer 18,000 synthetic samples spanning the adult lifespan (ages 22-90 years), alongside the model's capability to generate unlimited data. Experimental results indicate that samples generated from NeuroSynth agree with the distributions obtained from real data. Most importantly, the generated normative data significantly enhance the accuracy of downstream machine learning models on tasks such as disease classification. Data and models are available at: https://huggingface.co/spaces/rongguangw/neuro-synth.

Airway segmentation on CT scans is critical for pulmonary disease diagnosis and endobronchial navigation. Manual extraction of airway requires strenuous efforts due to the complicated structure and various appearance of airway. For automatic airway extraction, convolutional neural networks (CNNs) based methods have recently become the state-of-the-art approach. However, there still remains a challenge for CNNs to perceive the tree-like pattern and comprehend the connectivity of airway. To address this, we propose a voxel-connectivity aware approach named AirwayNet for accurate airway segmentation. By connectivity modeling, conventional binary segmentation task is transformed into 26 tasks of connectivity prediction. Thus, our AirwayNet learns both airway structure and relationship between neighboring voxels. To take advantage of context knowledge, lung distance map and voxel coordinates are fed into AirwayNet as additional semantic information. Compared to existing approaches, AirwayNet achieved superior performance, demonstrating the effectiveness of the network's awareness of voxel connectivity.

Convolutional Neural Networks (CNNs) have advanced existing medical systems for automatic disease diagnosis. However, there are still concerns about the reliability of deep medical diagnosis systems against the potential threats of adversarial attacks since inaccurate diagnosis could lead to disastrous consequences in the safety realm. In this study, we propose a highly robust yet efficient CNN-Transformer hybrid model which is equipped with the locality of CNNs as well as the global connectivity of vision Transformers. To mitigate the high quadratic complexity of the self-attention mechanism while jointly attending to information in various representation subspaces, we construct our attention mechanism by means of an efficient convolution operation. Moreover, to alleviate the fragility of our Transformer model against adversarial attacks, we attempt to learn smoother decision boundaries. To this end, we augment the shape information of an image in the high-level feature space by permuting the feature mean and variance within mini-batches. With less computational complexity, our proposed hybrid model demonstrates its high robustness and generalization ability compared to the state-of-the-art studies on a large-scale collection of standardized MedMNIST-2D datasets.

Echocardiogram video segmentation plays an important role in cardiac disease diagnosis. This paper studies the unsupervised domain adaption (UDA) for echocardiogram video segmentation, where the goal is to generalize the model trained on the source domain to other unlabelled target domains. Existing UDA segmentation methods are not suitable for this task because they do not model local information and the cyclical consistency of heartbeat. In this paper, we introduce a newly collected CardiacUDA dataset and a novel GraphEcho method for cardiac structure segmentation. Our GraphEcho comprises two innovative modules, the Spatial-wise Cross-domain Graph Matching (SCGM) and the Temporal Cycle Consistency (TCC) module, which utilize prior knowledge of echocardiogram videos, i.e., consistent cardiac structure across patients and centers and the heartbeat cyclical consistency, respectively. These two modules can better align global and local features from source and target domains, improving UDA segmentation results. Experimental results showed that our GraphEcho outperforms existing state-of-the-art UDA segmentation methods. Our collected dataset and code will be publicly released upon acceptance. This work will lay a new and solid cornerstone for cardiac structure segmentation from echocardiogram videos. Code and dataset are available at: https://github.com/xmed-lab/GraphEcho

Histology review is often used as the `gold standard' for disease diagnosis. Computer aided diagnosis tools can potentially help improve current pathology workflows by reducing examination time and interobserver variability. Previous work in cancer grading has focused mainly on classifying pre-defined regions of interest (ROIs), or relied on large amounts of fine-grained labels. In this paper, we propose a two-stage attention-based multiple instance learning model for slide-level cancer grading and weakly-supervised ROI detection and demonstrate its use in prostate cancer. Compared with existing Gleason classification models, our model goes a step further by utilizing visualized saliency maps to select informative tiles for fine-grained grade classification. The model was primarily developed on a large-scale whole slide dataset consisting of 3,521 prostate biopsy slides with only slide-level labels from 718 patients. The model achieved state-of-the-art performance for prostate cancer grading with an accuracy of 85.11\% for classifying benign, low-grade (Gleason grade 3+3 or 3+4), and high-grade (Gleason grade 4+3 or higher) slides on an independent test set.

Medical images and radiology reports are crucial for diagnosing medical conditions, highlighting the importance of quantitative analysis for clinical decision-making. However, the diversity and cross-source heterogeneity of these data challenge the generalizability of current data-mining methods. Multimodal large language models (MLLMs) have recently transformed many domains, significantly affecting the medical field. Notably, Gemini-Vision-series (Gemini) and GPT-4-series (GPT-4) models have epitomized a paradigm shift in Artificial General Intelligence (AGI) for computer vision, showcasing their potential in the biomedical domain. In this study, we evaluated the performance of the Gemini, GPT-4, and 4 popular large models for an exhaustive evaluation across 14 medical imaging datasets, including 5 medical imaging categories (dermatology, radiology, dentistry, ophthalmology, and endoscopy), and 3 radiology report datasets. The investigated tasks encompass disease classification, lesion segmentation, anatomical localization, disease diagnosis, report generation, and lesion detection. Our experimental results demonstrated that Gemini-series models excelled in report generation and lesion detection but faces challenges in disease classification and anatomical localization. Conversely, GPT-series models exhibited proficiency in lesion segmentation and anatomical localization but encountered difficulties in disease diagnosis and lesion detection. Additionally, both the Gemini series and GPT series contain models that have demonstrated commendable generation efficiency. While both models hold promise in reducing physician workload, alleviating pressure on limited healthcare resources, and fostering collaboration between clinical practitioners and artificial intelligence technologies, substantial enhancements and comprehensive validations remain imperative before clinical deployment.

Accurate 3D cardiac reconstruction from cine magnetic resonance imaging (cMRI) is crucial for improved cardiovascular disease diagnosis and understanding of the heart's motion. However, current cardiac MRI-based reconstruction technology used in clinical settings is 2D with limited through-plane resolution, resulting in low-quality reconstructed cardiac volumes. To better reconstruct 3D cardiac volumes from sparse 2D image stacks, we propose a morphology-guided diffusion model for 3D cardiac volume reconstruction, DMCVR, that synthesizes high-resolution 2D images and corresponding 3D reconstructed volumes. Our method outperforms previous approaches by conditioning the cardiac morphology on the generative model, eliminating the time-consuming iterative optimization process of the latent code, and improving generation quality. The learned latent spaces provide global semantics, local cardiac morphology and details of each 2D cMRI slice with highly interpretable value to reconstruct 3D cardiac shape. Our experiments show that DMCVR is highly effective in several aspects, such as 2D generation and 3D reconstruction performance. With DMCVR, we can produce high-resolution 3D cardiac MRI reconstructions, surpassing current techniques. Our proposed framework has great potential for improving the accuracy of cardiac disease diagnosis and treatment planning. Code can be accessed at https://github.com/hexiaoxiao-cs/DMCVR.

Large Language Models (LLMs) are increasingly adopted across domains such as education, healthcare, and finance. In healthcare, LLMs support tasks including disease diagnosis, abnormality classification, and clinical decision-making. Among these, multi-abnormality classification of radiology reports is critical for clinical workflow automation and biomedical research. Leveraging strong natural language processing capabilities, LLMs enable efficient processing of unstructured medical text and reduce the administrative burden of manual report analysis. To improve performance, LLMs are often fine-tuned on private, institution-specific datasets such as radiology reports. However, this raises significant privacy concerns: LLMs may memorize training data and become vulnerable to data extraction attacks, while sharing fine-tuned models risks exposing sensitive patient information. Despite growing interest in LLMs for medical text classification, privacy-preserving fine-tuning for multi-abnormality classification remains underexplored. To address this gap, we propose a differentially private (DP) fine-tuning framework for multi-abnormality classification from free-text radiology reports. Our approach integrates differential privacy with Low-Rank Adaptation (LoRA) to efficiently fine-tune LLMs on sensitive clinical data while mitigating leakage risks. We further employ labels generated by a larger LLM to train smaller models, enabling efficient inference under strong privacy guarantees. Experiments on MIMIC-CXR and CT-RATE demonstrate the effectiveness of our DP-LoRA framework across varying privacy regimes. On MIMIC-CXR, our method achieves weighted F1-scores up to 0.89 under moderate privacy budgets, approaching non-private LoRA (0.90) and full fine-tuning (0.96), confirming that strong privacy can be achieved with only modest performance trade-offs.

Background:Speech patterns have emerged as potential diagnostic markers for conditions with varying etiologies. Machine learning (ML) presents an opportunity to harness these patterns for accurate disease diagnosis. Objective: This review synthesized findings from studies exploring ML's capability in leveraging speech for the diagnosis of neurological, laryngeal and mental disorders. Methods: A systematic examination of 564 articles was conducted with 91 articles included in the study, which encompassed a wide spectrum of conditions, ranging from voice pathologies to mental and neurological disorders. Methods for speech classifications were assessed based on the relevant studies and scored between 0-10 based on the reported diagnostic accuracy of their ML models. Results: High diagnostic accuracies were consistently observed for laryngeal disorders, dysarthria, and changes related to speech in Parkinsons disease. These findings indicate the robust potential of speech as a diagnostic tool. Disorders like depression, schizophrenia, mild cognitive impairment and Alzheimers dementia also demonstrated high accuracies, albeit with some variability across studies. Meanwhile, disorders like OCD and autism highlighted the need for more extensive research to ascertain the relationship between speech patterns and the respective conditions. Conclusion: ML models utilizing speech patterns demonstrate promising potential in diagnosing a range of mental, laryngeal, and neurological disorders. However, the efficacy varies across conditions, and further research is needed. The integration of these models into clinical practice could potentially revolutionize the evaluation and diagnosis of a number of different medical conditions.

Recent advancements in large language models (LLMs) have shown promise in medical applications such as disease diagnosis and treatment planning. However, most existing medical LLMs struggle with the advanced reasoning required for complex clinical scenarios, such as differential diagnosis or personalized treatment suggestions. We proposed FineMedLM-o1, which leverages high-quality synthetic medical data and long-form reasoning data for Supervised Fine-Tuning (SFT) and Direct Preference Optimization (DPO), enabling advanced dialogue and deep reasoning capabilities. Additionally, we introduced Test-Time Training (TTT) in the medical domain for the first time, facilitating domain adaptation and ensuring reliable, accurate reasoning. Experimental results demonstrate that FineMedLM-o1 achieves a 23% average performance improvement over prior models on key medical benchmarks. Furthermore, the introduction of TTT provides an additional 14% performance boost, highlighting its effectiveness in enhancing medical reasoning capabilities. To support this process, we also proposed a novel method for synthesizing medical dialogue. Compared to other open-source datasets, our dataset stands out as superior in both quality and complexity. The project and data will be released on GitHub.

Accurate localization and segmentation of intervertebral disc (IVD) is crucial for the assessment of spine disease diagnosis. Despite the technological advances in medical imaging, IVD localization and segmentation are still manually performed, which is time-consuming and prone to errors. If, in addition, multi-modal imaging is considered, the burden imposed on disease assessments increases substantially. In this paper, we propose an architecture for IVD localization and segmentation in multi-modal MRI, which extends the well-known UNet. Compared to single images, multi-modal data brings complementary information, contributing to better data representation and discriminative power. Our contributions are three-fold. First, how to effectively integrate and fully leverage multi-modal data remains almost unexplored. In this work, each MRI modality is processed in a different path to better exploit their unique information. Second, inspired by HyperDenseNet, the network is densely-connected both within each path and across different paths, granting the model the freedom to learn where and how the different modalities should be processed and combined. Third, we improved standard U-Net modules by extending inception modules with two dilated convolutions blocks of different scale, which helps handling multi-scale context. We report experiments over the data set of the public MICCAI 2018 Challenge on Automatic Intervertebral Disc Localization and Segmentation, with 13 multi-modal MRI images used for training and 3 for validation. We trained IVD-Net on an NVidia TITAN XP GPU with 16 GBs RAM, using ADAM as optimizer and a learning rate of 10e-5 during 200 epochs. Training took about 5 hours, and segmentation of a whole volume about 2-3 seconds, on average. Several baselines, with different multi-modal fusion strategies, were used to demonstrate the effectiveness of the proposed architecture.

Artificial Intelligence (AI) has demonstrated significant potential in healthcare, particularly in disease diagnosis and treatment planning. Recent progress in Medical Large Vision-Language Models (Med-LVLMs) has opened up new possibilities for interactive diagnostic tools. However, these models often suffer from factual hallucination, which can lead to incorrect diagnoses. Fine-tuning and retrieval-augmented generation (RAG) have emerged as methods to address these issues. However, the amount of high-quality data and distribution shifts between training data and deployment data limit the application of fine-tuning methods. Although RAG is lightweight and effective, existing RAG-based approaches are not sufficiently general to different medical domains and can potentially cause misalignment issues, both between modalities and between the model and the ground truth. In this paper, we propose a versatile multimodal RAG system, MMed-RAG, designed to enhance the factuality of Med-LVLMs. Our approach introduces a domain-aware retrieval mechanism, an adaptive retrieved contexts selection method, and a provable RAG-based preference fine-tuning strategy. These innovations make the RAG process sufficiently general and reliable, significantly improving alignment when introducing retrieved contexts. Experimental results across five medical datasets (involving radiology, ophthalmology, pathology) on medical VQA and report generation demonstrate that MMed-RAG can achieve an average improvement of 43.8% in the factual accuracy of Med-LVLMs. Our data and code are available in https://github.com/richard-peng-xia/MMed-RAG.

Medical image segmentation is crucial for many healthcare tasks, including disease diagnosis and treatment planning. One key area is the segmentation of skin lesions, which is vital for diagnosing skin cancer and monitoring patients. In this context, this paper introduces SegDT, a new segmentation model based on diffusion transformer (DiT). SegDT is designed to work on low-cost hardware and incorporates Rectified Flow, which improves the generation quality at reduced inference steps and maintains the flexibility of standard diffusion models. Our method is evaluated on three benchmarking datasets and compared against several existing works, achieving state-of-the-art results while maintaining fast inference speeds. This makes the proposed model appealing for real-world medical applications. This work advances the performance and capabilities of deep learning models in medical image analysis, enabling faster, more accurate diagnostic tools for healthcare professionals. The code is made publicly available at https://github.com/Bekhouche/SegDT{GitHub}.

Large Language Models (LLMs) are converging towards a singular Artificial Hivemind, where shared Nature (pre-training priors) result in a profound collapse of distributional diversity, limiting the distinct perspectives necessary for creative exploration and scientific discovery. To address this, we propose to equip models with inference-time Nurture (individualized epistemic trajectories) using Epistemic Evolution paradigm, progressing through explore, internalize, and express. We instantiate this via PRISM (Pluralistic Reasoning via In-context Structure Modeling), a model-agnostic system that augments LLM with dynamic On-the-fly Epistemic Graphs. On three creativity benchmarks, PRISM achieves state-of-the-art novelty and significantly expands distributional diversity. Moreover, we evaluate the real-world utility via a challenging rare-disease diagnosis benchmark. Results demonstrate that PRISM successfully uncovers correct long-tail diagnoses that standard LLM miss, confirming that its divergence stems from meaningful exploration rather than incoherent noise. Overall, this work establishes a new paradigm for Pluralistic AI, moving beyond monolithic consensus toward a diverse ecosystem of unique cognitive individuals capable of collective, multi-perspective discovery.

Medical Image Analysis (MedIA) has become an essential tool in medicine and healthcare, aiding in disease diagnosis, prognosis, and treatment planning, and recent successes in deep learning (DL) have made significant contributions to its advances. However, DL models for MedIA remain challenging to deploy in real-world situations, failing for generalization under the distributional gap between training and testing samples, known as a distribution shift problem. Researchers have dedicated their efforts to developing various DL methods to adapt and perform robustly on unknown and out-of-distribution data distributions. This paper comprehensively reviews domain generalization studies specifically tailored for MedIA. We provide a holistic view of how domain generalization techniques interact within the broader MedIA system, going beyond methodologies to consider the operational implications on the entire MedIA workflow. Specifically, we categorize domain generalization methods into data-level, feature-level, model-level, and analysis-level methods. We show how those methods can be used in various stages of the MedIA workflow with DL equipped from data acquisition to model prediction and analysis. Furthermore, we include benchmark datasets and applications used to evaluate these approaches and analyze the strengths and weaknesses of various methods, unveiling future research opportunities.

Clinical notes in Electronic Health Records (EHR) present rich documented information of patients to inference phenotype for disease diagnosis and study patient characteristics for cohort selection. Unsupervised user embedding aims to encode patients into fixed-length vectors without human supervisions. Medical concepts extracted from the clinical notes contain rich connections between patients and their clinical categories. However, existing unsupervised approaches of user embeddings from clinical notes do not explicitly incorporate medical concepts. In this study, we propose a concept-aware unsupervised user embedding that jointly leverages text documents and medical concepts from two clinical corpora, MIMIC-III and Diabetes. We evaluate user embeddings on both extrinsic and intrinsic tasks, including phenotype classification, in-hospital mortality prediction, patient retrieval, and patient relatedness. Experiments on the two clinical corpora show our approach exceeds unsupervised baselines, and incorporating medical concepts can significantly improve the baseline performance.

Medical image segmentation is an essential prerequisite for developing healthcare systems, especially for disease diagnosis and treatment planning. On various medical image segmentation tasks, the u-shaped architecture, also known as U-Net, has become the de-facto standard and achieved tremendous success. However, due to the intrinsic locality of convolution operations, U-Net generally demonstrates limitations in explicitly modeling long-range dependency. Transformers, designed for sequence-to-sequence prediction, have emerged as alternative architectures with innate global self-attention mechanisms, but can result in limited localization abilities due to insufficient low-level details. In this paper, we propose TransUNet, which merits both Transformers and U-Net, as a strong alternative for medical image segmentation. On one hand, the Transformer encodes tokenized image patches from a convolution neural network (CNN) feature map as the input sequence for extracting global contexts. On the other hand, the decoder upsamples the encoded features which are then combined with the high-resolution CNN feature maps to enable precise localization. We argue that Transformers can serve as strong encoders for medical image segmentation tasks, with the combination of U-Net to enhance finer details by recovering localized spatial information. TransUNet achieves superior performances to various competing methods on different medical applications including multi-organ segmentation and cardiac segmentation. Code and models are available at https://github.com/Beckschen/TransUNet.

Musculoskeletal disorders represent a significant global health burden and are a leading cause of disability worldwide. While MRI is essential for accurate diagnosis, its interpretation remains exceptionally challenging. Radiologists must identify multiple potential abnormalities within complex anatomical structures across different imaging planes, a process that requires significant expertise and is prone to variability. We developed OrthoDiffusion, a unified diffusion-based foundation model designed for multi-task musculoskeletal MRI interpretation. The framework utilizes three orientation-specific 3D diffusion models, pre-trained in a self-supervised manner on 15,948 unlabeled knee MRI scans, to learn robust anatomical features from sagittal, coronal, and axial views. These view-specific representations are integrated to support diverse clinical tasks, including anatomical segmentation and multi-label diagnosis. Our evaluation demonstrates that OrthoDiffusion achieves excellent performance in the segmentation of 11 knee structures and the detection of 8 knee abnormalities. The model exhibited remarkable robustness across different clinical centers and MRI field strengths, consistently outperforming traditional supervised models. Notably, in settings where labeled data was scarce, OrthoDiffusion maintained high diagnostic precision using only 10\% of training labels. Furthermore, the anatomical representations learned from knee imaging proved highly transferable to other joints, achieving strong diagnostic performance across 11 diseases of the ankle and shoulder. These findings suggest that diffusion-based foundation models can serve as a unified platform for multi-disease diagnosis and anatomical segmentation, potentially improving the efficiency and accuracy of musculoskeletal MRI interpretation in real-world clinical workflows.

Pediatric congenital hydronephrosis (CH) is a common urinary tract disorder, primarily caused by obstruction at the renal pelvis-ureter junction. Magnetic resonance urography (MRU) can visualize hydronephrosis, including renal pelvis and calyces, by utilizing the natural contrast provided by water. Existing voxel-based segmentation approaches can extract CH regions from MRU, facilitating disease diagnosis and prognosis. However, these segmentation methods predominantly focus on morphological features, such as size, shape, and structure. To enable functional assessments, such as urodynamic simulations, external complex post-processing steps are required to convert these results into mesh-level representations. To address this limitation, we propose an end-to-end method based on deep neural networks, namely KidMesh, which could automatically reconstruct CH meshes directly from MRU. Generally, KidMesh extracts feature maps from MRU images and converts them into feature vertices through grid sampling. It then deforms a template mesh according to these feature vertices to generate the specific CH meshes of MRU images. Meanwhile, we develop a novel schema to train KidMesh without relying on accurate mesh-level annotations, which are difficult to obtain due to the sparsely sampled MRU slices. Experimental results show that KidMesh could reconstruct CH meshes in an average of 0.4 seconds, and achieve comparable performance to conventional methods without requiring post-processing. The reconstructed meshes exhibited no self-intersections, with only 3.7% and 0.2% of the vertices having error distances exceeding 3.2mm and 6.4mm, respectively. After rasterization, these meshes achieved a Dice score of 0.86 against manually delineated CH masks. Furthermore, these meshes could be used in renal urine flow simulations, providing valuable urodynamic information for clinical practice.

Semantic segmentation is crucial for medical image analysis, enabling precise disease diagnosis and treatment planning. However, many advanced models employ complex architectures, limiting their use in resource-constrained clinical settings. This paper proposes MFEnNet, an efficient medical image segmentation framework that incorporates MetaFormer in the encoding phase of the U-Net backbone. MetaFormer, an architectural abstraction of vision transformers, provides a versatile alternative to convolutional neural networks by transforming tokenized image patches into sequences for global context modeling. To mitigate the substantial computational cost associated with self-attention, the proposed framework replaces conventional transformer modules with pooling transformer blocks, thereby achieving effective global feature aggregation at reduced complexity. In addition, Swish activation is used to achieve smoother gradients and faster convergence, while spatial pyramid pooling is incorporated at the bottleneck to improve multi-scale feature extraction. Comprehensive experiments on different medical segmentation benchmarks demonstrate that the proposed MFEnNet approach attains competitive accuracy while significantly lowering computational cost compared to state-of-the-art models. The source code for this work is available at https://github.com/tranleanh/mfennet.

The anatomical structure segmentation of the spine and adjacent structures from computed tomography (CT) images is a key step for spinal disease diagnosis and treatment. However, the segmentation of CT images is impeded by low contrast and complex vertebral boundaries. Although advanced models such as the Segment Anything Model (SAM) have shown promise in various segmentation tasks, their performance in spinal CT imaging is limited by high annotation requirements and poor domain adaptability. To address these limitations, we propose SpinalSAM-R1, a multimodal vision-language interactive system that integrates a fine-tuned SAM with DeepSeek-R1, for spine CT image segmentation. Specifically, our SpinalSAM-R1 introduces an anatomy-guided attention mechanism to improve spine segmentation performance, and a semantics-driven interaction protocol powered by DeepSeek-R1, enabling natural language-guided refinement. The SpinalSAM-R1 is fine-tuned using Low-Rank Adaptation (LoRA) for efficient adaptation. We validate our SpinalSAM-R1 on the spine anatomical structure with CT images. Experimental results suggest that our method achieves superior segmentation performance. Meanwhile, we develop a PyQt5-based interactive software, which supports point, box, and text-based prompts. The system supports 11 clinical operations with 94.3\% parsing accuracy and sub-800 ms response times. The software is released on https://github.com/6jm233333/spinalsam-r1.

Multimodal large language models (MLLMs) hold significant potential in medical applications, including disease diagnosis and clinical decision-making. However, these tasks require highly accurate, context-sensitive, and professionally aligned responses, making reliable reward models and judges critical. Despite their importance, medical reward models (MRMs) and judges remain underexplored, with no dedicated benchmarks addressing clinical requirements. Existing benchmarks focus on general MLLM capabilities or evaluate models as solvers, neglecting essential evaluation dimensions like diagnostic accuracy and clinical relevance. To address this, we introduce Med-RewardBench, the first benchmark specifically designed to evaluate MRMs and judges in medical scenarios. Med-RewardBench features a multimodal dataset spanning 13 organ systems and 8 clinical departments, with 1,026 expert-annotated cases. A rigorous three-step process ensures high-quality evaluation data across six clinically critical dimensions. We evaluate 32 state-of-the-art MLLMs, including open-source, proprietary, and medical-specific models, revealing substantial challenges in aligning outputs with expert judgment. Additionally, we develop baseline models that demonstrate substantial performance improvements through fine-tuning.

Deep learning-based point cloud modeling has been widely investigated as an indispensable component of general shape analysis. Recently, transformer and state space model (SSM) have shown promising capacities in point cloud learning. However, limited research has been conducted on medical point clouds, which have great potential in disease diagnosis and treatment. This paper presents an SSM-based hierarchical feature learning framework for medical point cloud understanding. Specifically, we down-sample input into multiple levels through the farthest point sampling. At each level, we perform a series of k-nearest neighbor (KNN) queries to aggregate multi-scale structural information. To assist SSM in processing point clouds, we introduce coordinate-order and inside-out scanning strategies for efficient serialization of irregular points. Point features are calculated progressively from short neighbor sequences and long point sequences through vanilla and group Point SSM blocks, to capture both local patterns and long-range dependencies. To evaluate the proposed method, we build a large-scale medical point cloud dataset named MedPointS for anatomy classification, completion, and segmentation. Extensive experiments conducted on MedPointS demonstrate that our method achieves superior performance across all tasks. The dataset is available at https://flemme-docs.readthedocs.io/en/latest/medpoints.html. Code is merged to a public medical imaging platform: https://github.com/wlsdzyzl/flemme.

Automatic medical report generation supports clinical diagnosis, reduces the workload of radiologists, and holds the promise of improving diagnosis consistency. However, existing evaluation metrics primarily assess the accuracy of key medical information coverage in generated reports compared to human-written reports, while overlooking crucial details such as the location and certainty of reported abnormalities. These limitations hinder the comprehensive assessment of the reliability of generated reports and pose risks in their selection for clinical use. Therefore, we propose a Granular Explainable Multi-Agent Score (GEMA-Score) in this paper, which conducts both objective quantification and subjective evaluation through a large language model-based multi-agent workflow. Our GEMA-Score parses structured reports and employs NER-F1 calculations through interactive exchanges of information among agents to assess disease diagnosis, location, severity, and uncertainty. Additionally, an LLM-based scoring agent evaluates completeness, readability, and clinical terminology while providing explanatory feedback. Extensive experiments validate that GEMA-Score achieves the highest correlation with human expert evaluations on a public dataset, demonstrating its effectiveness in clinical scoring (Kendall coefficient = 0.70 for Rexval dataset and Kendall coefficient = 0.54 for RadEvalX dataset). The anonymous project demo is available at: https://github.com/Zhenxuan-Zhang/GEMA_score.

We introduce Brain-JEPA, a brain dynamics foundation model with the Joint-Embedding Predictive Architecture (JEPA). This pioneering model achieves state-of-the-art performance in demographic prediction, disease diagnosis/prognosis, and trait prediction through fine-tuning. Furthermore, it excels in off-the-shelf evaluations (e.g., linear probing) and demonstrates superior generalizability across different ethnic groups, surpassing the previous large model for brain activity significantly. Brain-JEPA incorporates two innovative techniques: Brain Gradient Positioning and Spatiotemporal Masking. Brain Gradient Positioning introduces a functional coordinate system for brain functional parcellation, enhancing the positional encoding of different Regions of Interest (ROIs). Spatiotemporal Masking, tailored to the unique characteristics of fMRI data, addresses the challenge of heterogeneous time-series patches. These methodologies enhance model performance and advance our understanding of the neural circuits underlying cognition. Overall, Brain-JEPA is paving the way to address pivotal questions of building brain functional coordinate system and masking brain activity at the AI-neuroscience interface, and setting a potentially new paradigm in brain activity analysis through downstream adaptation.

In healthcare, medical image segmentation is crucial for accurate disease diagnosis and the development of effective treatment strategies. Early detection can significantly aid in managing diseases and potentially prevent their progression. Machine learning, particularly deep convolutional neural networks, has emerged as a promising approach to addressing segmentation challenges. Traditional methods like U-Net use encoding blocks for local representation modeling and decoding blocks to uncover semantic relationships. However, these models often struggle with multi-scale objects exhibiting significant variations in texture and shape, and they frequently fail to capture long-range dependencies in the input data. Transformers designed for sequence-to-sequence predictions have been proposed as alternatives, utilizing global self-attention mechanisms. Yet, they can sometimes lack precise localization due to insufficient granular details. To overcome these limitations, we introduce TransDAE: a novel approach that reimagines the self-attention mechanism to include both spatial and channel-wise associations across the entire feature space, while maintaining computational efficiency. Additionally, TransDAE enhances the skip connection pathway with an inter-scale interaction module, promoting feature reuse and improving localization accuracy. Remarkably, TransDAE outperforms existing state-of-the-art methods on the Synaps multi-organ dataset, even without relying on pre-trained weights.

Automatic medical report generation (MRG), which possesses significant research value as it can aid radiologists in clinical diagnosis and report composition, has garnered increasing attention. Despite recent progress, generating accurate reports remains arduous due to the requirement for precise clinical comprehension and disease diagnosis inference. Furthermore, owing to the limited accessibility of medical data and the imbalanced distribution of diseases, the underrepresentation of rare diseases in training data makes large-scale medical visual language models (LVLMs) prone to hallucinations, such as omissions or fabrications, severely undermining diagnostic performance and further intensifying the challenges for MRG in practice. In this study, to effectively mitigate hallucinations in medical report generation, we propose a chain-of-medical-thought approach (CoMT), which intends to imitate the cognitive process of human doctors by decomposing diagnostic procedures. The radiological features with different importance are structured into fine-grained medical thought chains to enhance the inferential ability during diagnosis, thereby alleviating hallucination problems and enhancing the diagnostic accuracy of MRG. The code and dataset have been released at https://github.com/FRENKIE-CHIANG/CoMT.

Medical image segmentation allows quantifying target structure size and shape, aiding in disease diagnosis, prognosis, surgery planning, and comprehension.Building upon recent advancements in foundation Vision-Language Models (VLMs) from natural image-text pairs, several studies have proposed adapting them to Vision-Language Segmentation Models (VLSMs) that allow using language text as an additional input to segmentation models. Introducing auxiliary information via text with human-in-the-loop prompting during inference opens up unique opportunities, such as open vocabulary segmentation and potentially more robust segmentation models against out-of-distribution data. Although transfer learning from natural to medical images has been explored for image-only segmentation models, the joint representation of vision-language in segmentation problems remains underexplored. This study introduces the first systematic study on transferring VLSMs to 2D medical images, using carefully curated 11 datasets encompassing diverse modalities and insightful language prompts and experiments. Our findings demonstrate that although VLSMs show competitive performance compared to image-only models for segmentation after finetuning in limited medical image datasets, not all VLSMs utilize the additional information from language prompts, with image features playing a dominant role. While VLSMs exhibit enhanced performance in handling pooled datasets with diverse modalities and show potential robustness to domain shifts compared to conventional segmentation models, our results suggest that novel approaches are required to enable VLSMs to leverage the various auxiliary information available through language prompts. The code and datasets are available at https://github.com/naamiinepal/medvlsm.

The development of successful artificial intelligence models for chest X-ray analysis relies on large, diverse datasets with high-quality annotations. While several databases of chest X-ray images have been released, most include disease diagnosis labels but lack detailed pixel-level anatomical segmentation labels. To address this gap, we introduce an extensive chest X-ray multi-center segmentation dataset with uniform and fine-grain anatomical annotations for images coming from six well-known publicly available databases: CANDID-PTX, ChestX-ray8, Chexpert, MIMIC-CXR-JPG, Padchest, and VinDr-CXR, resulting in 676,803 segmentation masks. Our methodology utilizes the HybridGNet model to ensure consistent and high-quality segmentations across all datasets. Rigorous validation, including expert physician evaluation and automatic quality control, was conducted to validate the resulting masks. Additionally, we provide individualized quality indices per mask and an overall quality estimation per dataset. This dataset serves as a valuable resource for the broader scientific community, streamlining the development and assessment of innovative methodologies in chest X-ray analysis. The CheXmask dataset is publicly available at: https://physionet.org/content/chexmask-cxr-segmentation-data/.

Identification of tree species plays a key role in forestry related tasks like forest conservation, disease diagnosis and plant production. There had been a debate regarding the part of the tree to be used for differentiation, whether it should be leaves, fruits, flowers or bark. Studies have proven that bark is of utmost importance as it will be present despite seasonal variations and provides a characteristic identity to a tree by variations in the structure. In this paper, a deep learning based approach is presented by leveraging the method of computer vision to classify 50 tree species, on the basis of bark texture using the BarkVN-50 dataset. This is the maximum number of trees being considered for bark classification till now. A convolutional neural network(CNN), ResNet101 has been implemented using transfer-learning based technique of fine tuning to maximise the model performance. The model produced an overall accuracy of >94% during the evaluation. The performance validation has been done using K-Fold Cross Validation and by testing on unseen data collected from the Internet, this proved the model's generalization capability for real-world uses.

Accurate disease interpretation from radiology remains challenging due to imaging heterogeneity. Achieving expert-level diagnostic decisions requires integration of subtle image features with clinical knowledge. Yet major vision-language models (VLMs) treat images as holistic entities and overlook fine-grained image details that are vital for disease diagnosis. Clinicians analyze images by utilizing their prior medical knowledge and identify anatomical structures as important region of interests (ROIs). Inspired from this human-centric workflow, we introduce Anatomy-VLM, a fine-grained, vision-language model that incorporates multi-scale information. First, we design a model encoder to localize key anatomical features from entire medical images. Second, these regions are enriched with structured knowledge for contextually-aware interpretation. Finally, the model encoder aligns multi-scale medical information to generate clinically-interpretable disease prediction. Anatomy-VLM achieves outstanding performance on both in- and out-of-distribution datasets. We also validate the performance of Anatomy-VLM on downstream image segmentation tasks, suggesting that its fine-grained alignment captures anatomical and pathology-related knowledge. Furthermore, the Anatomy-VLM's encoder facilitates zero-shot anatomy-wise interpretation, providing its strong expert-level clinical interpretation capabilities.

Detecting stenosis in coronary angiography is vital for diagnosing and managing cardiovascular diseases. This study evaluates the performance of state-of-the-art object detection models on the ARCADE dataset using the MMDetection framework. The models are assessed using COCO evaluation metrics, including Intersection over Union (IoU), Average Precision (AP), and Average Recall (AR). Results indicate variations in detection accuracy across different models, attributed to differences in algorithmic design, transformer-based vs. convolutional architectures. Additionally, several challenges were encountered during implementation, such as compatibility issues between PyTorch, CUDA, and MMDetection, as well as dataset inconsistencies in ARCADE. The findings provide insights into model selection for stenosis detection and highlight areas for further improvement in deep learning-based coronary artery disease diagnosis.

Vision-language models (VLMs) have advanced reasoning in natural scenes, but their role in medical imaging remains underexplored. Medical reasoning tasks demand robust image analysis and well-justified answers, posing challenges due to the complexity of medical images. Transparency and trustworthiness are essential for clinical adoption and regulatory compliance. We introduce Med-R1, a framework exploring reinforcement learning (RL) to enhance VLMs' generalizability and trustworthiness in medical reasoning. Leveraging the DeepSeek strategy, we employ Group Relative Policy Optimization (GRPO) to guide reasoning paths via reward signals. Unlike supervised fine-tuning (SFT), which often overfits and lacks generalization, RL fosters robust and diverse reasoning. Med-R1 is evaluated across eight medical imaging modalities: CT, MRI, Ultrasound, Dermoscopy, Fundus Photography, Optical Coherence Tomography (OCT), Microscopy, and X-ray Imaging. Compared to its base model, Qwen2-VL-2B, Med-R1 achieves a 29.94% accuracy improvement and outperforms Qwen2-VL-72B, which has 36 times more parameters. Testing across five question types-modality recognition, anatomy identification, disease diagnosis, lesion grading, and biological attribute analysis Med-R1 demonstrates superior generalization, exceeding Qwen2-VL-2B by 32.06% and surpassing Qwen2-VL-72B in question-type generalization. These findings show that RL improves medical reasoning and enables parameter-efficient models to outperform significantly larger ones. With interpretable reasoning outputs, Med-R1 represents a promising step toward generalizable, trustworthy, and clinically viable medical VLMs.

Rare diseases, including Inborn Errors of Metabolism (IEM), pose significant diagnostic challenges. Case reports serve as key but computationally underutilized resources to inform diagnosis. Clinical dense information extraction refers to organizing medical information into structured predefined categories. Large Language Models (LLMs) may enable scalable information extraction from case reports but are rarely evaluated for this task. We introduce CaseReportBench, an expert-annotated dataset for dense information extraction of case reports, focusing on IEMs. Using this dataset, we assess various models and prompting strategies, introducing novel approaches such as category-specific prompting and subheading-filtered data integration. Zero-shot chain-of-thought prompting offers little advantage over standard zero-shot prompting. Category-specific prompting improves alignment with the benchmark. The open-source model Qwen2.5-7B outperforms GPT-4o for this task. Our clinician evaluations show that LLMs can extract clinically relevant details from case reports, supporting rare disease diagnosis and management. We also highlight areas for improvement, such as LLMs' limitations in recognizing negative findings important for differential diagnosis. This work advances LLM-driven clinical natural language processing and paves the way for scalable medical AI applications.

Skin diseases are a major public health concern worldwide, and their detection is often challenging without access to dermatological expertise. In countries like Bangladesh, which is highly populated, the number of qualified skin specialists and diagnostic instruments is insufficient to meet the demand. Due to the lack of proper detection and treatment of skin diseases, that may lead to severe health consequences including death. Common properties of skin diseases are, changing the color, texture, and pattern of skin and in this era of artificial intelligence and machine learning, we are able to detect skin diseases by using image processing and computer vision techniques. In response to this challenge, we develop a publicly available dataset focused on common skin disease detection using machine learning techniques. We focus on five prevalent skin diseases in Bangladesh: Contact Dermatitis, Vitiligo, Eczema, Scabies, and Tinea Ringworm. The dataset consists of 1612 images (of which, 250 are distinct while others are augmented), collected directly from patients at the outpatient department of Faridpur Medical College, Faridpur, Bangladesh. The data comprises of 302, 381, 301, 316, and 312 images of Dermatitis, Eczema, Scabies, Tinea Ringworm, and Vitiligo, respectively. Although the data are collected regionally, the selected diseases are common across many countries especially in South Asia, making the dataset potentially valuable for global applications in machine learning-based dermatology. We also apply several machine learning and deep learning models on the dataset and report classification performance. We expect that this research would garner attention from machine learning and deep learning researchers and practitioners working in the field of automated disease diagnosis.

Accurate diagnosis with medical large language models is hindered by knowledge gaps and hallucinations. Retrieval and tool-augmented methods help, but their impact is limited by weak use of external knowledge and poor feedback-reasoning traceability. To address these challenges, We introduce Deep-DxSearch, an agentic RAG system trained end-to-end with reinforcement learning (RL) that enables steer tracebale retrieval-augmented reasoning for medical diagnosis. In Deep-DxSearch, we first construct a large-scale medical retrieval corpus comprising patient records and reliable medical knowledge sources to support retrieval-aware reasoning across diagnostic scenarios. More crutially, we frame the LLM as the core agent and the retrieval corpus as its environment, using tailored rewards on format, retrieval, reasoning structure, and diagnostic accuracy, thereby evolving the agentic RAG policy from large-scale data through RL. Experiments demonstrate that our end-to-end agentic RL training framework consistently outperforms prompt-engineering and training-free RAG approaches across multiple data centers. After training, Deep-DxSearch achieves substantial gains in diagnostic accuracy, surpassing strong diagnostic baselines such as GPT-4o, DeepSeek-R1, and other medical-specific frameworks for both common and rare disease diagnosis under in-distribution and out-of-distribution settings. Moreover, ablation studies on reward design and retrieval corpus components confirm their critical roles, underscoring the uniqueness and effectiveness of our approach compared with traditional implementations. Finally, case studies and interpretability analyses highlight improvements in Deep-DxSearch's diagnostic policy, providing deeper insight into its performance gains and supporting clinicians in delivering more reliable and precise preliminary diagnoses. See https://github.com/MAGIC-AI4Med/Deep-DxSearch.

With the widespread application of artificial intelligence (AI), particularly deep learning (DL) and vision-based large language models (VLLMs), in skin disease diagnosis, the need for interpretability becomes crucial. However, existing dermatology datasets are limited in their inclusion of concept-level meta-labels, and none offer rich medical descriptions in natural language. This deficiency impedes the advancement of LLM-based methods in dermatological diagnosis. To address this gap and provide a meticulously annotated dermatology dataset with comprehensive natural language descriptions, we introduce SkinCAP: a multi-modal dermatology dataset annotated with rich medical captions. SkinCAP comprises 4,000 images sourced from the Fitzpatrick 17k skin disease dataset and the Diverse Dermatology Images dataset, annotated by board-certified dermatologists to provide extensive medical descriptions and captions. Notably, SkinCAP represents the world's first such dataset and is publicly available at https://huggingface.co/datasets/joshuachou/SkinCAP.

Accurate and contrast-free Major Adverse Cardiac Events (MACE) prediction from Cine MRI sequences remains a critical challenge. Existing methods typically necessitate supervised learning based on human-refined masks in the ventricular myocardium, which become impractical without contrast agents. We introduce a self-supervised framework, namely Codebook-based Temporal-Spatial Learning (CTSL), that learns dynamic, spatiotemporal representations from raw Cine data without requiring segmentation masks. CTSL decouples temporal and spatial features through a multi-view distillation strategy, where the teacher model processes multiple Cine views, and the student model learns from reduced-dimensional Cine-SA sequences. By leveraging codebook-based feature representations and dynamic lesion self-detection through motion cues, CTSL captures intricate temporal dependencies and motion patterns. High-confidence MACE risk predictions are achieved through our model, providing a rapid, non-invasive solution for cardiac risk assessment that outperforms traditional contrast-dependent methods, thereby enabling timely and accessible heart disease diagnosis in clinical settings.

Artificial intelligence (AI) has demonstrated significant potential in ECG analysis and cardiovascular disease assessment. Recently, foundation models have played a remarkable role in advancing medical AI. The development of an ECG foundation model holds the promise of elevating AI-ECG research to new heights. However, building such a model faces several challenges, including insufficient database sample sizes and inadequate generalization across multiple domains. Additionally, there is a notable performance gap between single-lead and multi-lead ECG analyses. We introduced an ECG Foundation Model (ECGFounder), a general-purpose model that leverages real-world ECG annotations from cardiology experts to broaden the diagnostic capabilities of ECG analysis. ECGFounder was trained on over 10 million ECGs with 150 label categories from the Harvard-Emory ECG Database, enabling comprehensive cardiovascular disease diagnosis through ECG analysis. The model is designed to be both an effective out-of-the-box solution, and a to be fine-tunable for downstream tasks, maximizing usability. Importantly, we extended its application to lower rank ECGs, and arbitrary single-lead ECGs in particular. ECGFounder is applicable to supporting various downstream tasks in mobile monitoring scenarios. Experimental results demonstrate that ECGFounder achieves expert-level performance on internal validation sets, with AUROC exceeding 0.95 for eighty diagnoses. It also shows strong classification performance and generalization across various diagnoses on external validation sets. When fine-tuned, ECGFounder outperforms baseline models in demographic analysis, clinical event detection, and cross-modality cardiac rhythm diagnosis. The trained model and data will be publicly released upon publication through the bdsp.io. Our code is available at https://github.com/bdsp-core/ECGFounder

Categorical variables often appear in datasets for classification and regression tasks, and they need to be encoded into numerical values before training. Since many encoders have been developed and can significantly impact performance, choosing the appropriate encoder for a task becomes a time-consuming yet important practical issue. This study broadly classifies machine learning models into three categories: 1) ATI models that implicitly perform affine transformations on inputs, such as multi-layer perceptron neural network; 2) Tree-based models that are based on decision trees, such as random forest; and 3) the rest, such as kNN. Theoretically, we prove that the one-hot encoder is the best choice for ATI models in the sense that it can mimic any other encoders by learning suitable weights from the data. We also explain why the target encoder and its variants are the most suitable encoders for tree-based models. This study conducted comprehensive computational experiments to evaluate 14 encoders, including one-hot and target encoders, along with eight common machine-learning models on 28 datasets. The computational results agree with our theoretical analysis. The findings in this study shed light on how to select the suitable encoder for data scientists in fields such as fraud detection, disease diagnosis, etc.

Clinical diagnosis of the eye is performed over multifarious data modalities including scalar clinical labels, vectorized biomarkers, two-dimensional fundus images, and three-dimensional Optical Coherence Tomography (OCT) scans. Clinical practitioners use all available data modalities for diagnosing and treating eye diseases like Diabetic Retinopathy (DR) or Diabetic Macular Edema (DME). Enabling usage of machine learning algorithms within the ophthalmic medical domain requires research into the relationships and interactions between all relevant data over a treatment period. Existing datasets are limited in that they neither provide data nor consider the explicit relationship modeling between the data modalities. In this paper, we introduce the Ophthalmic Labels for Investigating Visual Eye Semantics (OLIVES) dataset that addresses the above limitation. This is the first OCT and near-IR fundus dataset that includes clinical labels, biomarker labels, disease labels, and time-series patient treatment information from associated clinical trials. The dataset consists of 1268 near-IR fundus images each with at least 49 OCT scans, and 16 biomarkers, along with 4 clinical labels and a disease diagnosis of DR or DME. In total, there are 96 eyes' data averaged over a period of at least two years with each eye treated for an average of 66 weeks and 7 injections. We benchmark the utility of OLIVES dataset for ophthalmic data as well as provide benchmarks and concrete research directions for core and emerging machine learning paradigms within medical image analysis.

The clinical translation of dermatological AI is hindered by opaque reasoning and systematic performance disparities across skin tones. Here we present SkinGPT-R1, a multimodal large language model that integrates chain-of-thought diagnostic reasoning with a fairness-aware mixture-of-experts architecture for interpretable and equitable skin disease diagnosis. Through parameter-efficient adaptation of a frozen reasoning backbone, SkinGPT-R1 generates structured diagnostic reports comprising visual findings, differential reasoning, and final diagnosis. Across seven external datasets spanning diverse pathologies and imaging conditions, SkinGPT-R1 achieves state-of-the-art accuracy on six benchmarks, including 82.50\% on a challenging 40-class long-tail classification task (+19.30\% over leading baselines). Blinded evaluation by five board-certified dermatologists on 1,000 phenotypically balanced cases yields a mean score of 3.6 out of 5, with the highest ratings in safety (3.8) and reasoning coherence (3.6), indicating that the generated rationales are clinically safe, logically grounded, and suitable for supporting diagnostic decision-making. Critically, SkinGPT-R1 mitigates algorithmic bias across the full Fitzpatrick spectrum, achieving a robust worst-group performance of 41.40\% on the Fitz17k benchmark and a five-fold relative improvement in lower-bound accuracy on the DDI dataset compared to standard multimodal baselines. These results establish a framework for trustworthy, fair, and explainable AI-assisted dermatological diagnosis.

Artificial intelligence (AI) that can effectively learn ultrasound representations by integrating multi-source data holds significant promise for advancing clinical care. However, the scarcity of large labeled datasets in real-world clinical environments and the limited generalizability of task-specific models have hindered the development of generalizable clinical AI models for ultrasound applications. In this study, we present EchoCare, a novel ultrasound foundation model for generalist clinical use, developed via self-supervised learning on our curated, publicly available, large-scale dataset EchoCareData. EchoCareData comprises 4.5 million ultrasound images, sourced from over 23 countries across 5 continents and acquired via a diverse range of distinct imaging devices, thus encompassing global cohorts that are multi-center, multi-device, and multi-ethnic. Unlike prior studies that adopt off-the-shelf vision foundation model architectures, we introduce a hierarchical classifier into EchoCare to enable joint learning of pixel-level and representation-level features, capturing both global anatomical contexts and local ultrasound characteristics. With minimal training, EchoCare outperforms state-of-the-art comparison models across 10 representative ultrasound benchmarks of varying diagnostic difficulties, spanning disease diagnosis, lesion segmentation, organ detection, landmark prediction, quantitative regression, imaging enhancement and report generation. The code and pretrained model are publicly released, rendering EchoCare accessible for fine-tuning and local adaptation, supporting extensibility to additional applications. EchoCare provides a fully open and generalizable foundation model to boost the development of AI technologies for diverse clinical ultrasound applications.

Multimodal Large Language Models (MLLMs) have shown significant potential in medical image analysis. However, their capabilities in interpreting fundus images, a critical skill for ophthalmology, remain under-evaluated. Existing benchmarks lack fine-grained task divisions and fail to provide modular analysis of its two key modules, i.e., large language model (LLM) and vision encoder (VE). This paper introduces FunBench, a novel visual question answering (VQA) benchmark designed to comprehensively evaluate MLLMs' fundus reading skills. FunBench features a hierarchical task organization across four levels (modality perception, anatomy perception, lesion analysis, and disease diagnosis). It also offers three targeted evaluation modes: linear-probe based VE evaluation, knowledge-prompted LLM evaluation, and holistic evaluation. Experiments on nine open-source MLLMs plus GPT-4o reveal significant deficiencies in fundus reading skills, particularly in basic tasks such as laterality recognition. The results highlight the limitations of current MLLMs and emphasize the need for domain-specific training and improved LLMs and VEs.

Artificial intelligence (AI) is vital in ophthalmology, tackling tasks like diagnosis, classification, and visual question answering (VQA). However, existing AI models in this domain often require extensive annotation and are task-specific, limiting their clinical utility. While recent developments have brought about foundation models for ophthalmology, they are limited by the need to train separate weights for each imaging modality, preventing a comprehensive representation of multi-modal features. This highlights the need for versatile foundation models capable of handling various tasks and modalities in ophthalmology. To address this gap, we present EyeFound, a multimodal foundation model for ophthalmic images. Unlike existing models, EyeFound learns generalizable representations from unlabeled multimodal retinal images, enabling efficient model adaptation across multiple applications. Trained on 2.78 million images from 227 hospitals across 11 ophthalmic modalities, EyeFound facilitates generalist representations and diverse multimodal downstream tasks, even for detecting challenging rare diseases. It outperforms previous work RETFound in diagnosing eye diseases, predicting systemic disease incidents, and zero-shot multimodal VQA. EyeFound provides a generalizable solution to improve model performance and lessen the annotation burden on experts, facilitating widespread clinical AI applications for retinal imaging.

Automated interpretation of electrocardiograms (ECG) has garnered significant attention with the advancements in machine learning methodologies. Despite the growing interest, most current studies focus solely on classification or regression tasks, which overlook a crucial aspect of clinical cardio-disease diagnosis: the diagnostic report generated by experienced human clinicians. In this paper, we introduce a novel approach to ECG interpretation, leveraging recent breakthroughs in Large Language Models (LLMs) and Vision-Transformer (ViT) models. Rather than treating ECG diagnosis as a classification or regression task, we propose an alternative method of automatically identifying the most similar clinical cases based on the input ECG data. Also, since interpreting ECG as images is more affordable and accessible, we process ECG as encoded images and adopt a vision-language learning paradigm to jointly learn vision-language alignment between encoded ECG images and ECG diagnosis reports. Encoding ECG into images can result in an efficient ECG retrieval system, which will be highly practical and useful in clinical applications. More importantly, our findings could serve as a crucial resource for providing diagnostic services in underdeveloped regions.

Large Language Models (LLMs) are transforming artificial intelligence, enabling autonomous agents to perform diverse tasks across various domains. These agents, proficient in human-like text comprehension and generation, have the potential to revolutionize sectors from customer service to healthcare. However, they face challenges such as multimodality, human value alignment, hallucinations, and evaluation. Techniques like prompting, reasoning, tool utilization, and in-context learning are being explored to enhance their capabilities. Evaluation platforms like AgentBench, WebArena, and ToolLLM provide robust methods for assessing these agents in complex scenarios. These advancements are leading to the development of more resilient and capable autonomous agents, anticipated to become integral in our digital lives, assisting in tasks from email responses to disease diagnosis. The future of AI, with LLMs at the forefront, is promising.

Fairness or equity in machine learning is profoundly important for societal well-being, but limited public datasets hinder its progress, especially in the area of medicine. It is undeniable that fairness in medicine is one of the most important areas for fairness learning's applications. Currently, no large-scale public medical datasets with 3D imaging data for fairness learning are available, while 3D imaging data in modern clinics are standard tests for disease diagnosis. In addition, existing medical fairness datasets are actually repurposed datasets, and therefore they typically have limited demographic identity attributes with at most three identity attributes of age, gender, and race for fairness modeling. To address this gap, we introduce our Eye Fairness dataset with 30,000 subjects (Harvard-EF) covering three major eye diseases including age-related macular degeneration, diabetic retinopathy, and glaucoma affecting 380 million patients globally. Our Harvard-EF dataset includes both 2D fundus photos and 3D optical coherence tomography scans with six demographic identity attributes including age, gender, race, ethnicity, preferred language, and marital status. We also propose a fair identity scaling (FIS) approach combining group and individual scaling together to improve model fairness. Our FIS approach is compared with various state-of-the-art fairness learning methods with superior performance in the racial, gender, and ethnicity fairness tasks with 2D and 3D imaging data, which demonstrate the utilities of our Harvard-EF dataset for fairness learning. To facilitate fairness comparisons between different models, we propose performance-scaled disparity measures, which can be used to compare model fairness accounting for overall performance levels. The dataset and code are publicly accessible via https://ophai.hms.harvard.edu/datasets/harvard-ef30k.

Purpose: This study introduces the first adaptation of RETFound for joint optic disc (OD) and optic cup (OC) segmentation. RETFound is a well-known foundation model developed for fundus camera and optical coherence tomography images, which has shown promising performance in disease diagnosis. Methods: We propose FunduSegmenter, a model integrating a series of novel modules with RETFound, including a Pre-adapter, a Decoder, a Post-adapter, skip connections with Convolutional Block Attention Module and a Vision Transformer block adapter. The model is evaluated on a proprietary dataset, GoDARTS, and four public datasets, IDRiD, Drishti-GS, RIM-ONE-r3, and REFUGE, through internal verification, external verification and domain generalization experiments. Results: An average Dice similarity coefficient of 90.51% was achieved in internal verification, which outperformed all baselines, some substantially (nnU-Net: 82.91%; DUNet: 89.17%; TransUNet: 87.91%). In all external verification experiments, the average results were about 3% higher than those of the best baseline, and our model was also competitive in domain generalization. Conclusions: This study explored the potential of the latent general representations learned by RETFound for OD and OC segmentation in fundus camera images. Our FunduSegmenter generally outperformed state-of-the-art baseline methods. The proposed modules are general and can be extended to fine-tuning other foundation models. Translational Relevance: The model shows strong stability and generalization on both in-distribution and out-of-distribution data, providing stable OD and OC segmentation. This is an essential step for many automated tasks, from setting the accurate retinal coordinate to biomarker discovery. The code and trained weights are available at: https://github.com/JusticeZzy/FunduSegmenter.

Foundation models and vision-language pre-training have significantly advanced Vision-Language Models (VLMs), enabling multimodal processing of visual and linguistic data. However, their application in domain-specific agricultural tasks, such as plant pathology, remains limited due to the lack of large-scale, comprehensive multimodal image--text datasets and benchmarks. To address this gap, we introduce LeafNet, a comprehensive multimodal dataset, and LeafBench, a visual question-answering benchmark developed to systematically evaluate the capabilities of VLMs in understanding plant diseases. The dataset comprises 186,000 leaf digital images spanning 97 disease classes, paired with metadata, generating 13,950 question-answer pairs spanning six critical agricultural tasks. The questions assess various aspects of plant pathology understanding, including visual symptom recognition, taxonomic relationships, and diagnostic reasoning. Benchmarking 12 state-of-the-art VLMs on our LeafBench dataset, we reveal substantial disparity in their disease understanding capabilities. Our study shows performance varies markedly across tasks: binary healthy--diseased classification exceeds 90% accuracy, while fine-grained pathogen and species identification remains below 65%. Direct comparison between vision-only models and VLMs demonstrates the critical advantage of multimodal architectures: fine-tuned VLMs outperform traditional vision models, confirming that integrating linguistic representations significantly enhances diagnostic precision. These findings highlight critical gaps in current VLMs for plant pathology applications and underscore the need for LeafBench as a rigorous framework for methodological advancement and progress evaluation toward reliable AI-assisted plant disease diagnosis. Code is available at https://github.com/EnalisUs/LeafBench.

Modern text classification methods heavily rely on contextual embeddings from large language models (LLMs). Compared to human-engineered features, these embeddings provide automatic and effective representations for classification model training. However, they also introduce a challenge: we lose the ability to manually remove unintended features, such as sensitive or task-irrelevant features, to guarantee regulatory compliance or improve the generalizability of classification models. This limitation arises because LLM embeddings are opaque and difficult to interpret. In this paper, we propose a novel framework to identify and regularize unintended features in the LLM latent space. Specifically, we first pre-train a sparse autoencoder (SAE) to extract interpretable features from LLM latent spaces. To ensure the SAE can capture task-specific features, we further fine-tune it on task-specific datasets. In training the classification model, we propose a simple and effective regularizer, by minimizing the similarity between the classifier weights and the identified unintended feature, to remove the impact of these unintended features on classification. We evaluate the proposed framework on three real-world tasks, including toxic chat detection, reward modeling, and disease diagnosis. Results show that the proposed self-regularization framework can improve the classifier's generalizability by regularizing those features that are not semantically correlated to the task. This work pioneers controllable text classification on LLM latent spaces by leveraging interpreted features to address generalizability, fairness, and privacy challenges. The code and data are publicly available at https://github.com/JacksonWuxs/Controllable_LLM_Classifier.

Although large language models (LLMs) have been assessed for general medical knowledge using medical licensing exams, their ability to effectively support clinical decision-making tasks, such as selecting and using medical calculators, remains uncertain. Here, we evaluate the capability of both medical trainees and LLMs to recommend medical calculators in response to various multiple-choice clinical scenarios such as risk stratification, prognosis, and disease diagnosis. We assessed eight LLMs, including open-source, proprietary, and domain-specific models, with 1,009 question-answer pairs across 35 clinical calculators and measured human performance on a subset of 100 questions. While the highest-performing LLM, GPT-4o, provided an answer accuracy of 74.3% (CI: 71.5-76.9%), human annotators, on average, outperformed LLMs with an accuracy of 79.5% (CI: 73.5-85.0%). With error analysis showing that the highest-performing LLMs continue to make mistakes in comprehension (56.6%) and calculator knowledge (8.1%), our findings emphasize that humans continue to surpass LLMs on complex clinical tasks such as calculator recommendation.

Unsupervised anomaly detection (UAD) has been widely implemented in industrial and medical applications, which reduces the cost of manual annotation and improves efficiency in disease diagnosis. Recently, deep auto-encoder with its variants has demonstrated its advantages in many UAD scenarios. Training on the normal data, these models are expected to locate anomalies by producing higher reconstruction error for the abnormal areas than the normal ones. However, this assumption does not always hold because of the uncontrollable generalization capability. To solve this problem, we present LSGS, a method that builds on Vector Quantised-Variational Autoencoder (VQVAE) with a novel aggregated codebook and transformers with global attention. In this work, the VQVAE focus on feature extraction and reconstruction of images, and the transformers fit the manifold and locate anomalies in the latent space. Then, leveraging the generated encoding sequences that conform to a normal distribution, we can reconstruct a more accurate image for locating the anomalies. Experiments on various datasets demonstrate the effectiveness of the proposed method.

The prevalence of vision-threatening eye diseases is a significant global burden, with many cases remaining undiagnosed or diagnosed too late for effective treatment. Large vision-language models (LVLMs) have the potential to assist in understanding anatomical information, diagnosing eye diseases, and drafting interpretations and follow-up plans, thereby reducing the burden on clinicians and improving access to eye care. However, limited benchmarks are available to assess LVLMs' performance in ophthalmology-specific applications. In this study, we introduce LMOD, a large-scale multimodal ophthalmology benchmark consisting of 21,993 instances across (1) five ophthalmic imaging modalities: optical coherence tomography, color fundus photographs, scanning laser ophthalmoscopy, lens photographs, and surgical scenes; (2) free-text, demographic, and disease biomarker information; and (3) primary ophthalmology-specific applications such as anatomical information understanding, disease diagnosis, and subgroup analysis. In addition, we benchmarked 13 state-of-the-art LVLM representatives from closed-source, open-source, and medical domains. The results demonstrate a significant performance drop for LVLMs in ophthalmology compared to other domains. Systematic error analysis further identified six major failure modes: misclassification, failure to abstain, inconsistent reasoning, hallucination, assertions without justification, and lack of domain-specific knowledge. In contrast, supervised neural networks specifically trained on these tasks as baselines demonstrated high accuracy. These findings underscore the pressing need for benchmarks in the development and validation of ophthalmology-specific LVLMs.

Multimodal cardiovascular magnetic resonance (CMR) imaging provides comprehensive and non-invasive insights into cardiovascular disease (CVD) diagnosis and underlying mechanisms. Despite decades of advancements, its widespread clinical adoption remains constrained by prolonged scan times and heterogeneity across medical environments. This underscores the urgent need for a generalist reconstruction foundation model for ultra-fast CMR imaging, one capable of adapting across diverse imaging scenarios and serving as the essential substrate for all downstream analyses. To enable this goal, we curate MMCMR-427K, the largest and most comprehensive multimodal CMR k-space database to date, comprising 427,465 multi-coil k-space data paired with structured metadata across 13 international centers, 12 CMR modalities, 15 scanners, and 17 CVD categories in populations across three continents. Building on this unprecedented resource, we introduce CardioMM, a generalist reconstruction foundation model capable of dynamically adapting to heterogeneous fast CMR imaging scenarios. CardioMM unifies semantic contextual understanding with physics-informed data consistency to deliver robust reconstructions across varied scanners, protocols, and patient presentations. Comprehensive evaluations demonstrate that CardioMM achieves state-of-the-art performance in the internal centers and exhibits strong zero-shot generalization to unseen external settings. Even at imaging acceleration up to 24x, CardioMM reliably preserves key cardiac phenotypes, quantitative myocardial biomarkers, and diagnostic image quality, enabling a substantial increase in CMR examination throughput without compromising clinical integrity. Together, our open-access MMCMR-427K database and CardioMM framework establish a scalable pathway toward high-throughput, high-quality, and clinically accessible cardiovascular imaging.

In the pharmaceutical industry, the use of artificial intelligence (AI) has seen consistent growth over the past decade. This rise is attributed to major advancements in statistical machine learning methodologies, computational capabilities and the increased availability of large datasets. AI techniques are applied throughout different stages of drug development, ranging from drug discovery to post-marketing benefit-risk assessment. Kolluri et al. provided a review of several case studies that span these stages, featuring key applications such as protein structure prediction, success probability estimation, subgroup identification, and AI-assisted clinical trial monitoring. From a regulatory standpoint, there was a notable uptick in submissions incorporating AI components in 2021. The most prevalent therapeutic areas leveraging AI were oncology (27%), psychiatry (15%), gastroenterology (12%), and neurology (11%). The paradigm of personalized or precision medicine has gained significant traction in recent research, partly due to advancements in AI techniques hamburg2010path. This shift has had a transformative impact on the pharmaceutical industry. Departing from the traditional "one-size-fits-all" model, personalized medicine incorporates various individual factors, such as environmental conditions, lifestyle choices, and health histories, to formulate customized treatment plans. By utilizing sophisticated machine learning algorithms, clinicians and researchers are better equipped to make informed decisions in areas such as disease prevention, diagnosis, and treatment selection, thereby optimizing health outcomes for each individual.

It is widely accepted that information derived from analyzing speech (the acoustic signal) and language production (words and sentences) serves as a useful window into the health of an individual's cognitive ability. In fact, most neuropsychological testing batteries have a component related to speech and language where clinicians elicit speech from patients for subjective evaluation across a broad set of dimensions. With advances in speech signal processing and natural language processing, there has been recent interest in developing tools to detect more subtle changes in cognitive-linguistic function. This work relies on extracting a set of features from recorded and transcribed speech for objective assessments of speech and language, early diagnosis of neurological disease, and tracking of disease after diagnosis. With an emphasis on cognitive and thought disorders, in this paper we provide a review of existing speech and language features used in this domain, discuss their clinical application, and highlight their advantages and disadvantages. Broadly speaking, the review is split into two categories: language features based on natural language processing and speech features based on speech signal processing. Within each category, we consider features that aim to measure complementary dimensions of cognitive-linguistics, including language diversity, syntactic complexity, semantic coherence, and timing. We conclude the review with a proposal of new research directions to further advance the field.

Human readers or radiologists routinely perform full-body multi-organ multi-disease detection and diagnosis in clinical practice, while most medical AI systems are built to focus on single organs with a narrow list of a few diseases. This might severely limit AI's clinical adoption. A certain number of AI models need to be assembled non-trivially to match the diagnostic process of a human reading a CT scan. In this paper, we construct a Unified Tumor Transformer (UniT) model to detect (tumor existence and location) and diagnose (tumor characteristics) eight major cancer-prevalent organs in CT scans. UniT is a query-based Mask Transformer model with the output of multi-organ and multi-tumor semantic segmentation. We decouple the object queries into organ queries, detection queries and diagnosis queries, and further establish hierarchical relationships among the three groups. This clinically-inspired architecture effectively assists inter- and intra-organ representation learning of tumors and facilitates the resolution of these complex, anatomically related multi-organ cancer image reading tasks. UniT is trained end-to-end using a curated large-scale CT images of 10,042 patients including eight major types of cancers and occurring non-cancer tumors (all are pathology-confirmed with 3D tumor masks annotated by radiologists). On the test set of 631 patients, UniT has demonstrated strong performance under a set of clinically relevant evaluation metrics, substantially outperforming both multi-organ segmentation methods and an assembly of eight single-organ expert models in tumor detection, segmentation, and diagnosis. Such a unified multi-cancer image reading model (UniT) can significantly reduce the number of false positives produced by combined multi-system models. This moves one step closer towards a universal high-performance cancer screening tool.

Immunohistochemistry (IHC) provides information on protein expression in tissue sections and is commonly used to support pathology diagnosis and disease triage. While AI models for H\&E-stained slides show promise, their applicability to IHC is limited due to domain-specific variations. Here we introduce HPA10M, a dataset that contains 10,495,672 IHC images from the Human Protein Atlas with comprehensive metadata included, and encompasses 45 normal tissue types and 20 major cancer types. Based on HPA10M, we trained iSight, a multi-task learning framework for automated IHC staining assessment. iSight combines visual features from whole-slide images with tissue metadata through a token-level attention mechanism, simultaneously predicting staining intensity, location, quantity, tissue type, and malignancy status. On held-out data, iSight achieved 85.5\% accuracy for location, 76.6\% for intensity, and 75.7\% for quantity, outperforming fine-tuned foundation models (PLIP, CONCH) by 2.5--10.2\%. In addition, iSight demonstrates well-calibrated predictions with expected calibration errors of 0.0150-0.0408. Furthermore, in a user study with eight pathologists evaluating 200 images from two datasets, iSight outperformed initial pathologist assessments on the held-out HPA dataset (79\% vs 68\% for location, 70\% vs 57\% for intensity, 68\% vs 52\% for quantity). Inter-pathologist agreement also improved after AI assistance in both held-out HPA (Cohen's κ increased from 0.63 to 0.70) and Stanford TMAD datasets (from 0.74 to 0.76), suggesting expert--AI co-assessment can improve IHC interpretation. This work establishes a foundation for AI systems that can improve IHC diagnostic accuracy and highlights the potential for integrating iSight into clinical workflows to enhance the consistency and reliability of IHC assessment.

This study is based on the Alzheimer's Disease Neuroimaging Initiative (ADNI) dataset and aims to explore early detection and disease progression in Alzheimer's disease (AD). We employ innovative data preprocessing strategies, including the use of the random forest algorithm to fill missing data and the handling of outliers and invalid data, thereby fully mining and utilizing these limited data resources. Through Spearman correlation coefficient analysis, we identify some features strongly correlated with AD diagnosis. We build and test three machine learning models using these features: random forest, XGBoost, and support vector machine (SVM). Among them, the XGBoost model performs the best in terms of diagnostic performance, achieving an accuracy of 91%. Overall, this study successfully overcomes the challenge of missing data and provides valuable insights into early detection of Alzheimer's disease, demonstrating its unique research value and practical significance.

WHO has declared that more than 2.2 billion people worldwide are suffering from visual disorders, such as media haze, glaucoma, and drusen. At least 1 billion of these cases could have been either prevented or successfully treated, yet they remain unaddressed due to poverty, a lack of specialists, inaccurate ocular fundus diagnoses by ophthalmologists, or the presence of a rare disease. To address this, the research has developed the Hybrid Trio-Network Model Algorithm for accurately diagnosing 12 distinct common and rare eye diseases. This algorithm utilized the RFMiD dataset of 3,200 fundus images and the Binary Relevance Method to detect diseases separately, ensuring expandability and avoiding incorrect correlations. Each detector, incorporating finely tuned hyperparameters to optimize performance, consisted of three feature components: A classical transfer learning CNN model, a two-stage CNN model, and a Siamese Network. The diagnosis was made using features extracted through this Trio-Model with Ensembled Machine Learning algorithms. The proposed model achieved an average accuracy of 97% and an AUC score of 0.96. Compared to past benchmark studies, an increase of over 10% in the F1-score was observed for most diseases. Furthermore, using the Siamese Network, the model successfully made predictions in diseases like optic disc pallor, which past studies failed to predict due to low confidence. This diagnostic tool presents a stable, adaptive, cost-effective, efficient, accessible, and fast solution for globalizing early detection of both common and rare diseases.

Traditional diagnosis of aortic valve disease relies on echocardiography, but its cost and required expertise limit its use in large-scale early screening. Photoplethysmography (PPG) has emerged as a promising screening modality due to its widespread availability in wearable devices and its ability to reflect underlying hemodynamic dynamics. However, the extreme scarcity of gold-standard labeled PPG data severely constrains the effectiveness of data-driven approaches. To address this challenge, we propose and validate a new paradigm, Physiology-Guided Self-Supervised Learning (PG-SSL), aimed at unlocking the value of large-scale unlabeled PPG data for efficient screening of Aortic Stenosis (AS) and Aortic Regurgitation (AR). Using over 170,000 unlabeled PPG samples from the UK Biobank, we formalize clinical knowledge into a set of PPG morphological phenotypes and construct a pulse pattern recognition proxy task for self-supervised pre-training. A dual-branch, gated-fusion architecture is then employed for efficient fine-tuning on a small labeled subset. The proposed PG-SSL framework achieves AUCs of 0.765 and 0.776 for AS and AR screening, respectively, significantly outperforming supervised baselines trained on limited labeled data. Multivariable analysis further validates the model output as an independent digital biomarker with sustained prognostic value after adjustment for standard clinical risk factors. This study demonstrates that PG-SSL provides an effective, domain knowledge-driven solution to label scarcity in medical artificial intelligence and shows strong potential for enabling low-cost, large-scale early screening of aortic valve disease.

Accurate diagnosis of Parkinson disease, especially in its early stages, can be a challenging task. The application of machine learning techniques helps improve the diagnostic accuracy of Parkinson disease detection but only few studies have presented work towards the prediction of disease progression. In this research work, Long Short Term Memory LSTM was trained using the diagnostic features on Parkinson patients speech signals, to predict the disease progression while a Multilayer Perceptron MLP was trained on the same diagnostic features to detect the disease. Diagnostic features selected using two well-known feature selection methods named Relief-F and Sequential Forward Selection and applied on LSTM and MLP have shown to accurately predict the disease progression as stage 2 and 3 and its existence respectively.

Accurate diagnosis of Alzheimer's disease (AD) requires handling tabular biomarker data, yet such data are often small and incomplete, where deep learning models frequently fail to outperform classical methods. Pretrained large language models (LLMs) offer few-shot generalization, structured reasoning, and interpretable outputs, providing a powerful paradigm shift for clinical prediction. We propose TAP-GPT Tabular Alzheimer's Prediction GPT, a domain-adapted tabular LLM framework built on TableGPT2 and fine-tuned for few-shot AD classification using tabular prompts rather than plain texts. We evaluate TAP-GPT across four ADNI-derived datasets, including QT-PAD biomarkers and region-level structural MRI, amyloid PET, and tau PET for binary AD classification. Across multimodal and unimodal settings, TAP-GPT improves upon its backbone models and outperforms traditional machine learning baselines in the few-shot setting while remaining competitive with state-of-the-art general-purpose LLMs. We show that feature selection mitigates degradation in high-dimensional inputs and that TAP-GPT maintains stable performance under simulated and real-world missingness without imputation. Additionally, TAP-GPT produces structured, modality-aware reasoning aligned with established AD biology and shows greater stability under self-reflection, supporting its use in iterative multi-agent systems. To our knowledge, this is the first systematic application of a tabular-specialized LLM to multimodal biomarker-based AD prediction, demonstrating that such pretrained models can effectively address structured clinical prediction tasks and laying the foundation for tabular LLM-driven multi-agent clinical decision-support systems. The source code is publicly available on GitHub: https://github.com/sophie-kearney/TAP-GPT.

We present the findings of "The Alzheimer's Disease Prediction Of Longitudinal Evolution" (TADPOLE) Challenge, which compared the performance of 92 algorithms from 33 international teams at predicting the future trajectory of 219 individuals at risk of Alzheimer's disease. Challenge participants were required to make a prediction, for each month of a 5-year future time period, of three key outcomes: clinical diagnosis, Alzheimer's Disease Assessment Scale Cognitive Subdomain (ADAS-Cog13), and total volume of the ventricles. The methods used by challenge participants included multivariate linear regression, machine learning methods such as support vector machines and deep neural networks, as well as disease progression models. No single submission was best at predicting all three outcomes. For clinical diagnosis and ventricle volume prediction, the best algorithms strongly outperform simple baselines in predictive ability. However, for ADAS-Cog13 no single submitted prediction method was significantly better than random guesswork. Two ensemble methods based on taking the mean and median over all predictions, obtained top scores on almost all tasks. Better than average performance at diagnosis prediction was generally associated with the additional inclusion of features from cerebrospinal fluid (CSF) samples and diffusion tensor imaging (DTI). On the other hand, better performance at ventricle volume prediction was associated with inclusion of summary statistics, such as the slope or maxima/minima of biomarkers. TADPOLE's unique results suggest that current prediction algorithms provide sufficient accuracy to exploit biomarkers related to clinical diagnosis and ventricle volume, for cohort refinement in clinical trials for Alzheimer's disease. However, results call into question the usage of cognitive test scores for patient selection and as a primary endpoint in clinical trials.

Automatic medical report generation (MRG) is of great research value as it has the potential to relieve radiologists from the heavy burden of report writing. Despite recent advancements, accurate MRG remains challenging due to the need for precise clinical understanding and the identification of clinical findings. Moreover, the imbalanced distribution of diseases makes the challenge even more pronounced, as rare diseases are underrepresented in training data, making their diagnostic performance unreliable. To address these challenges, we propose diagnosis-driven prompts for medical report generation (PromptMRG), a novel framework that aims to improve the diagnostic accuracy of MRG with the guidance of diagnosis-aware prompts. Specifically, PromptMRG is based on encoder-decoder architecture with an extra disease classification branch. When generating reports, the diagnostic results from the classification branch are converted into token prompts to explicitly guide the generation process. To further improve the diagnostic accuracy, we design cross-modal feature enhancement, which retrieves similar reports from the database to assist the diagnosis of a query image by leveraging the knowledge from a pre-trained CLIP. Moreover, the disease imbalanced issue is addressed by applying an adaptive logit-adjusted loss to the classification branch based on the individual learning status of each disease, which overcomes the barrier of text decoder's inability to manipulate disease distributions. Experiments on two MRG benchmarks show the effectiveness of the proposed method, where it obtains state-of-the-art clinical efficacy performance on both datasets.

Disease progression simulation is a crucial area of research that has significant implications for clinical diagnosis, prognosis, and treatment. One major challenge in this field is the lack of continuous medical imaging monitoring of individual patients over time. To address this issue, we develop a novel framework termed Progressive Image Editing (PIE) that enables controlled manipulation of disease-related image features, facilitating precise and realistic disease progression simulation. Specifically, we leverage recent advancements in text-to-image generative models to simulate disease progression accurately and personalize it for each patient. We theoretically analyze the iterative refining process in our framework as a gradient descent with an exponentially decayed learning rate. To validate our framework, we conduct experiments in three medical imaging domains. Our results demonstrate the superiority of PIE over existing methods such as Stable Diffusion Walk and Style-Based Manifold Extrapolation based on CLIP score (Realism) and Disease Classification Confidence (Alignment). Our user study collected feedback from 35 veteran physicians to assess the generated progressions. Remarkably, 76.2% of the feedback agrees with the fidelity of the generated progressions. To our best knowledge, PIE is the first of its kind to generate disease progression images meeting real-world standards. It is a promising tool for medical research and clinical practice, potentially allowing healthcare providers to model disease trajectories over time, predict future treatment responses, and improve patient outcomes.

Parkinson's disease (PD) is a neuro-degenerative disorder that affects movement, speech, and coordination. Timely diagnosis and treatment can improve the quality of life for PD patients. However, access to clinical diagnosis is limited in low and middle income countries (LMICs). Therefore, development of automated screening tools for PD can have a huge social impact, particularly in the public health sector. In this paper, we present PULSAR, a novel method to screen for PD from webcam-recorded videos of the finger-tapping task from the Movement Disorder Society - Unified Parkinson's Disease Rating Scale (MDS-UPDRS). PULSAR is trained and evaluated on data collected from 382 participants (183 self-reported as PD patients). We used an adaptive graph convolutional neural network to dynamically learn the spatio temporal graph edges specific to the finger-tapping task. We enhanced this idea with a multi stream adaptive convolution model to learn features from different modalities of data critical to detect PD, such as relative location of the finger joints, velocity and acceleration of tapping. As the labels of the videos are self-reported, there could be cases of undiagnosed PD in the non-PD labeled samples. We leveraged the idea of Positive Unlabeled (PU) Learning that does not need labeled negative data. Our experiments show clear benefit of modeling the problem in this way. PULSAR achieved 80.95% accuracy in validation set and a mean accuracy of 71.29% (2.49% standard deviation) in independent test, despite being trained with limited amount of data. This is specially promising as labeled data is scarce in health care sector. We hope PULSAR will make PD screening more accessible to everyone. The proposed techniques could be extended for assessment of other movement disorders, such as ataxia, and Huntington's disease.

COVID-19 (coronavirus disease 2019) pandemic caused by SARS-CoV-2 has led to a treacherous and devastating catastrophe for humanity. At the time of writing, no specific antivirus drugs or vaccines are recommended to control infection transmission and spread. The current diagnosis of COVID-19 is done by Reverse-Transcription Polymer Chain Reaction (RT-PCR) testing. However, this method is expensive, time-consuming, and not easily available in straitened regions. An interpretable and COVID-19 diagnosis AI framework is devised and developed based on the cough sounds features and symptoms metadata to overcome these limitations. The proposed framework's performance was evaluated using a medical dataset containing Symptoms and Demographic data of 30000 audio segments, 328 cough sounds from 150 patients with four cough classes ( COVID-19, Asthma, Bronchitis, and Healthy). Experiments' results show that the model captures the better and robust feature embedding to distinguish between COVID-19 patient coughs and several types of non-COVID-19 coughs with higher specificity and accuracy of 95.04 pm 0.18% and 96.83pm 0.18% respectively, all the while maintaining interpretability.

As the field of artificial intelligence progresses, assistive technologies are becoming more widely used across all industries. The healthcare industry is no different, with numerous studies being done to develop assistive tools for healthcare professionals. Automatic diagnostic systems are one such beneficial tool that can assist with a variety of tasks, including collecting patient information, analyzing test results, and diagnosing patients. However, the idea of developing systems that can provide a differential diagnosis has been largely overlooked in most of these research studies. In this study, we propose a transformer-based approach for providing differential diagnoses based on a patient's age, sex, medical history, and symptoms. We use the DDXPlus dataset, which provides differential diagnosis information for patients based on 49 disease types. Firstly, we propose a method to process the tabular patient data from the dataset and engineer them into patient reports to make them suitable for our research. In addition, we introduce two data modification modules to diversify the training data and consequently improve the robustness of the models. We approach the task as a multi-label classification problem and conduct extensive experiments using four transformer models. All the models displayed promising results by achieving over 97% F1 score on the held-out test set. Moreover, we design additional behavioral tests to get a broader understanding of the models. In particular, for one of our test cases, we prepared a custom test set of 100 samples with the assistance of a doctor. The results on the custom set showed that our proposed data modification modules improved the model's generalization capabilities. We hope our findings will provide future researchers with valuable insights and inspire them to develop reliable systems for automatic differential diagnosis.

Mental health disorders are one of the most serious diseases in the world. Most people with such a disease lack access to adequate care, which highlights the importance of training models for the diagnosis and treatment of mental health disorders. However, in the mental health domain, privacy concerns limit the accessibility of personalized treatment data, making it challenging to build powerful models. In this paper, we introduce MentalArena, a self-play framework to train language models by generating domain-specific personalized data, where we obtain a better model capable of making a personalized diagnosis and treatment (as a therapist) and providing information (as a patient). To accurately model human-like mental health patients, we devise Symptom Encoder, which simulates a real patient from both cognition and behavior perspectives. To address intent bias during patient-therapist interactions, we propose Symptom Decoder to compare diagnosed symptoms with encoded symptoms, and dynamically manage the dialogue between patient and therapist according to the identified deviations. We evaluated MentalArena against 6 benchmarks, including biomedicalQA and mental health tasks, compared to 6 advanced models. Our models, fine-tuned on both GPT-3.5 and Llama-3-8b, significantly outperform their counterparts, including GPT-4o. We hope that our work can inspire future research on personalized care. Code is available in https://github.com/Scarelette/MentalArena/tree/main

Deep learning has enabled the development of highly robust foundation models for various pathological tasks across diverse diseases and patient cohorts. Among these models, vision-language pre-training, which leverages large-scale paired data to align pathology image and text embedding spaces, and provides a novel zero-shot paradigm for downstream tasks. However, existing models have been primarily data-driven and lack the incorporation of domain-specific knowledge, which limits their performance in cancer diagnosis, especially for rare tumor subtypes. To address this limitation, we establish a Knowledge-enhanced Pathology (KEEP) foundation model that harnesses disease knowledge to facilitate vision-language pre-training. Specifically, we first construct a disease knowledge graph (KG) that covers 11,454 human diseases with 139,143 disease attributes, including synonyms, definitions, and hypernym relations. We then systematically reorganize the millions of publicly available noisy pathology image-text pairs, into 143K well-structured semantic groups linked through the hierarchical relations of the disease KG. To derive more nuanced image and text representations, we propose a novel knowledge-enhanced vision-language pre-training approach that integrates disease knowledge into the alignment within hierarchical semantic groups instead of unstructured image-text pairs. Validated on 18 diverse benchmarks with more than 14,000 whole slide images (WSIs), KEEP achieves state-of-the-art performance in zero-shot cancer diagnostic tasks. Notably, for cancer detection, KEEP demonstrates an average sensitivity of 89.8% at a specificity of 95.0% across 7 cancer types. For cancer subtyping, KEEP achieves a median balanced accuracy of 0.456 in subtyping 30 rare brain cancers, indicating strong generalizability for diagnosing rare tumors.

Clinical diagnosis prediction models, when provided with a patient's medical history, aim to detect potential diseases early, facilitating timely intervention and improving prognostic outcomes. However, the inherent scarcity of patient data and large disease candidate space often pose challenges in developing satisfactory models for this intricate task. The exploration of leveraging Large Language Models (LLMs) for encapsulating clinical decision processes has been limited. We introduce MERA, a clinical diagnosis prediction model that bridges pertaining natural language knowledge with medical practice. We apply hierarchical contrastive learning on a disease candidate ranking list to alleviate the large decision space issue. With concept memorization through fine-tuning, we bridge the natural language clinical knowledge with medical codes. Experimental results on MIMIC-III and IV datasets show that MERA achieves the state-of-the-art diagnosis prediction performance and dramatically elevates the diagnosis prediction capabilities of generative LMs.