These same concepts were also used to label 656 skin disease images from the Diverse Dermatology Images dataset, providing an additional external dataset with diverse skin tone representations. We review the potential applications fortheSkinCon dataset, such asprobing models, concept-based explanations, concept bottlenecks, error analysis, andslice discovery.

Background: Existing clinical prediction models often represent patient data using features that ignore the semantic relationships between clinical concepts. This study integrates domain-specific semantic information by mapping the SNOMED medical term hierarchy into a low-dimensional hyperbolic space using Poincaré embeddings, with the aim of improving lung cancer onset prediction. Methods: Using a retrospective cohort from the Optum EHR dataset, we derived a clinical knowledge graph from the SNOMED taxonomy and generated Poincaré embeddings via Riemannian stochastic gradient descent. These embeddings were then incorporated into two deep learning architectures, a ResNet and a Transformer model. Models were evaluated for discrimination (area under the receiver operating characteristic curve) and calibration (average absolute difference between observed and predicted probabilities) performance. Results: Incorporating pre-trained Poincaré embeddings resulted in modest and consistent improvements in discrimination performance compared to baseline models using randomly initialized Euclidean embeddings. ResNet models, particularly those using a 10-dimensional Poincaré embedding, showed enhanced calibration, whereas Transformer models maintained stable calibration across configurations. Discussion: Embedding clinical knowledge graphs into hyperbolic space and integrating these representations into deep learning models can improve lung cancer onset prediction by preserving the hierarchical structure of clinical terminologies used for prediction. This approach demonstrates a feasible method for combining data-driven feature extraction with established clinical knowledge.

Medical deep learning models depend heavily on domain-specific knowledge to perform well on knowledge-intensive clinical tasks. Prior work has primarily leveraged unimodal knowledge graphs, such as the Unified Medical Language System (UMLS), to enhance model performance. However, integrating multimodal medical knowledge graphs remains largely underexplored, mainly due to the lack of resources linking imaging data with clinical concepts. To address this gap, we propose MEDMKG, a Medical Multimodal Knowledge Graph that unifies visual and textual medical information through a multi-stage construction pipeline. MEDMKG fuses the rich multimodal data from MIMIC-CXR with the structured clinical knowledge from UMLS, utilizing both rule-based tools and large language models for accurate concept extraction and relationship modeling. To ensure graph quality and compactness, we introduce Neighbor-aware Filtering (NaF), a novel filtering algorithm tailored for multimodal knowledge graphs. We evaluate MEDMKG across three tasks under two experimental settings, benchmarking twenty-four baseline methods and four state-of-the-art vision-language backbones on six datasets. Results show that MEDMKG not only improves performance in downstream medical tasks but also offers a strong foundation for developing adaptive and robust strategies for multimodal knowledge integration in medical artificial intelligence.

Deep learning models have shown promise in lung pathology detection from chest X-rays, but widespread clinical adoption remains limited due to opaque model decision-making. In prior work, we introduced ClinicXAI, a human-centric, expert-guided concept bottleneck model (CBM) designed for interpretable lung cancer diagnosis. We now extend that approach and present XpertXAI, a generalizable expert-driven model that preserves human-interpretable clinical concepts while scaling to detect multiple lung pathologies. Using a high-performing InceptionV3-based classifier and a public dataset of chest X-rays with radiology reports, we compare XpertXAI against leading post-hoc explainability methods and an unsupervised CBM, XCBs. We assess explanations through comparison with expert radiologist annotations and medical ground truth. Although XpertXAI is trained for multiple pathologies, our expert validation focuses on lung cancer. We find that existing techniques frequently fail to produce clinically meaningful explanations, omitting key diagnostic features and disagreeing with radiologist judgments. XpertXAI not only outperforms these baselines in predictive accuracy but also delivers concept-level explanations that better align with expert reasoning. While our focus remains on explainability in lung cancer detection, this work illustrates how human-centric model design can be effectively extended to broader diagnostic contexts - offering a scalable path toward clinically meaningful explainable AI in medical diagnostics.

Deep learning models for medical image classification tasks are becoming widely implemented in AI-assisted diagnostic tools, aiming to enhance diagnostic accuracy, reduce clinician workloads, and improve patient outcomes. However, their vulnerability to adversarial attacks poses significant risks to patient safety. Current attack methodologies use general techniques such as model querying or pixel value perturbations to generate adversarial examples designed to fool a model. These approaches may not adequately address the unique characteristics of clinical errors stemming from missed or incorrectly identified clinical features. We propose the Concept-based Report Perturbation Attack (CoRPA), a clinically-focused black-box adversarial attack framework tailored to the medical imaging domain. CoRPA leverages clinical concepts to generate adversarial radiological reports and images that closely mirror realistic clinical misdiagnosis scenarios. We demonstrate the utility of CoRPA using the MIMIC-CXR-JPG dataset of chest X-rays and radiological reports. Our evaluation reveals that deep learning models exhibiting strong resilience to conventional adversarial attacks are significantly less robust when subjected to CoRPA's clinically-focused perturbations. This underscores the importance of addressing domain-specific vulnerabilities in medical AI systems. By introducing a specialized adversarial attack framework, this study provides a foundation for developing robust, real-world-ready AI models in healthcare, ensuring their safe and reliable deployment in high-stakes clinical environments.

The main challenges limiting the adoption of deep learning-based solutions in medical workflows are the availability of annotated data and the lack of interpretability of such systems. Concept Bottleneck Models (CBMs) tackle the latter by constraining the final disease prediction on a set of predefined and human-interpretable concepts. However, the increased interpretability achieved through these concept-based explanations implies a higher annotation burden. Moreover, if a new concept needs to be added, the whole system needs to be retrained. Inspired by the remarkable performance shown by Large Vision-Language Models (LVLMs) in few-shot settings, we propose a simple, yet effective, methodology, CBVLM, which tackles both of the aforementioned challenges. First, for each concept, we prompt the LVLM to answer if the concept is present in the input image. Then, we ask the LVLM to classify the image based on the previous concept predictions. Moreover, in both stages, we incorporate a retrieval module responsible for selecting the best examples for in-context learning. By grounding the final diagnosis on the predicted concepts, we ensure explainability, and by leveraging the few-shot capabilities of LVLMs, we drastically lower the annotation cost. We validate our approach with extensive experiments across four medical datasets and twelve LVLMs (both generic and medical) and show that CBVLM consistently outperforms CBMs and task-specific supervised methods without requiring any training and using just a few annotated examples. More information on our project page: https://cristianopatricio.github.io/CBVLM/.

Knowledge sharing is crucial in healthcare, especially when leveraging data from multiple clinical sites to address data scarcity, reduce costs, and enable timely interventions. Transfer learning can facilitate cross-site knowledge transfer, but a major challenge is heterogeneity in clinical concepts across different sites. Large Language Models (LLMs) show significant potential of capturing the semantic meaning of clinical concepts and reducing heterogeneity. This study analyzed electronic health records from two large healthcare systems to assess the impact of semantic embeddings from LLMs on local, shared, and transfer learning models. Results indicate that domain-specific LLMs, such as Med-BERT, consistently outperform in local and direct transfer scenarios, while generic models like OpenAI embeddings require fine-tuning for optimal performance. However, excessive tuning of models with biomedical embeddings may reduce effectiveness, emphasizing the need for balance. This study highlights the importance of domain-specific embeddings and careful model tuning for effective knowledge transfer in healthcare.

Automatic generation of discharge summaries presents significant challenges due to the length of clinical documentation, the dispersed nature of patient information, and the diverse terminology used in healthcare. This paper presents a hybrid solution for generating discharge summary sections as part of our participation in the "Discharge Me!" Challenge at the BioNLP 2024 Shared Task. We developed a two-stage generation method using both extractive and abstractive techniques, in which we first apply name entity recognition (NER) to extract key clinical concepts, which are then used as input for a prompt-tuning-based GatorTronGPT model to generate coherent text for two important sections including "Brief Hospital Course" and "Discharge Instructions". Our system was ranked 5th in this challenge, achieving an overall score of 0.284. The results demonstrate the effectiveness of our hybrid solution in improving the quality of automated discharge section generation.