Abstract
Contrastive Analysis (CA) detects anomalies by contrasting patterns unique to a target group (e.g., unhealthy subjects) from those in a background group (e.g., healthy subjects). In the context of brain MRIs, existing CA approaches rely on supervised contrastive learning or variational autoencoders (VAEs) using both healthy and unhealthy data, but such reliance on target samples is challenging in clinical settings. Unsupervised Anomaly Detection (UAD) learns a reference representation of healthy anatomy, eliminating the need for target samples. Deviations from this reference distribution can indicate potential anomalies. In this context, diffusion models have been increasingly adopted in UAD due to their superior performance in image generation compared to VAEs. Nonetheless, precisely reconstructing the anatomy of the brain remains a challenge. In this work, we bridge CA and UAD by reformulating contrastive analysis principles for the unsupervised setting. We propose an unsupervised framework to improve the reconstruction quality by training a self-supervised contrastive encoder on healthy images to extract meaningful anatomical features. These features are used to condition a diffusion model to reconstruct the healthy appearance of a given image, enabling interpretable anomaly localization via pixel-wise comparison. We validate our approach through a proof-of-concept on a facial image dataset and further demonstrate its effectiveness on four brain MRI datasets, outperforming baseline methods in anomaly localization on the NOVA benchmark.

Abstract
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 model output 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/.

Abstract
The main challenges hindering the adoption of deep learning-based systems in clinical settings are the scarcity of annotated data and the lack of interpretability and trust in these systems. Concept Bottleneck Models (CBMs) offer inherent interpretability by constraining the final disease prediction on a set of human-understandable concepts. However, this inherent interpretability comes at the cost of greater annotation burden. Additionally, adding new concepts requires retraining the entire system. In this work, we introduce a novel two-step methodology that addresses both of these challenges. By simulating the two stages of a CBM, we utilize a pretrained Vision Language Model (VLM) to automatically predict clinical concepts, and an off-the-shelf Large Language Model (LLM) to generate disease diagnoses grounded on the predicted concepts. Furthermore, our approach supports test-time human intervention, enabling corrections to predicted concepts, which improves final diagnoses and enhances transparency in decision-making. We validate our approach on three skin lesion datasets, demonstrating that it outperforms traditional CBMs and state-of-the-art explainable methods, all without requiring any training and utilizing only a few annotated examples. The code is available at https://github.com/CristianoPatricio/2step-concept-based-skin-diagnosis.

Abstract

Abstract
Contrastive Analysis (CA) regards the problem of identifying patterns in images that allow distinguishing between a background (BG) dataset (i.e. healthy subjects) and a target (TG) dataset (i.e. unhealthy subjects). Recent works on this topic rely on variational autoencoders (VAE) or contrastive learning strategies to learn the patterns that separate TG samples from BG samples in a supervised manner. However, the dependency on target (unhealthy) samples can be challenging in medical scenarios due to their limited availability. Also, the blurred reconstructions of VAEs lack utility and interpretability. In this work, we redefine the CA task by employing a self-supervised contrastive encoder to learn a latent representation encoding only common patterns from input images, using samples exclusively from the BG dataset during training, and approximating the distribution of the target patterns by leveraging data augmentation techniques. Subsequently, we exploit state-of-the-art generative methods, i.e. diffusion models, conditioned on the learned latent representation to produce a realistic (healthy) version of the input image encoding solely the common patterns. Thorough validation on a facial image dataset and experiments across three brain MRI datasets demonstrate that conditioning the generative process of state-of-the-art generative methods with the latent representation from our self-supervised contrastive encoder yields improvements in the generated image quality and in the accuracy of image classification. The code is available at https://github.com/CristianoPatricio/unsupervised-contrastive-cond-diff.