The infrequency and heterogeneity of clinical presentations in rare diseases often lead to underdiagnosis and their exclusion from structured datasets. This necessitates the utilization of unstructured text data for comprehensive analysis. However, the manual identification from clinical reports is an arduous and intrinsically subjective task. This study proposes a novel hybrid approach that synergistically combines a traditional dictionary-based natural language processing (NLP) tool with the powerful capabilities of large language models (LLMs) to enhance the identification of rare diseases from unstructured clinical notes. We comprehensively evaluate various prompting strategies on six large language models (LLMs) of varying sizes and domains (general and medical). This evaluation encompasses zero-shot, few-shot, and retrieval-augmented generation (RAG) techniques to enhance the LLMs' ability to reason about and understand contextual information in patient reports. The results demonstrate effectiveness in rare disease identification, highlighting the potential for identifying underdiagnosed patients from clinical notes.
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Weakly-supervised medical image segmentation is a challenging task that aims to reduce the annotation cost while keep the segmentation performance. In this paper, we present a novel framework, SimTxtSeg, that leverages simple text cues to generate high-quality pseudo-labels and study the cross-modal fusion in training segmentation models, simultaneously. Our contribution consists of two key components: an effective Textual-to-Visual Cue Converter that produces visual prompts from text prompts on medical images, and a text-guided segmentation model with Text-Vision Hybrid Attention that fuses text and image features. We evaluate our framework on two medical image segmentation tasks: colonic polyp segmentation and MRI brain tumor segmentation, and achieve consistent state-of-the-art performance.
Early detection of myocardial infarction (MI), a critical condition arising from coronary artery disease (CAD), is vital to prevent further myocardial damage. This study introduces a novel method for early MI detection using a one-class classification (OCC) algorithm in echocardiography. Our study overcomes the challenge of limited echocardiography data availability by adopting a novel approach based on Multi-modal Subspace Support Vector Data Description. The proposed technique involves a specialized MI detection framework employing multi-view echocardiography incorporating a composite kernel in the non-linear projection trick, fusing Gaussian and Laplacian sigmoid functions. Additionally, we enhance the update strategy of the projection matrices by adapting maximization for both or one of the modalities in the optimization process. Our method boosts MI detection capability by efficiently transforming features extracted from echocardiography data into an optimized lower-dimensional subspace. The OCC model trained specifically on target class instances from the comprehensive HMC-QU dataset that includes multiple echocardiography views indicates a marked improvement in MI detection accuracy. Our findings reveal that our proposed multi-view approach achieves a geometric mean of 71.24%, signifying a substantial advancement in echocardiography-based MI diagnosis and offering more precise and efficient diagnostic tools.
Empathetic response generation is a desirable aspect of conversational agents, crucial for facilitating engaging and emotionally intelligent multi-turn conversations between humans and machines. Leveraging large language models for this task has shown promising results, yet challenges persist in ensuring both the empathetic quality of the responses and retention of the generalization performance of the models. In this paper, we propose a novel approach where we construct theory-driven preference datasets and use them to align LLMs with preference optimization algorithms to address these challenges. To measure empathetic response generation, we employ the EmpatheticDialogues dataset, assessing empathy with the diff-EPITOME and BERTscore metrics, and evaluate the generalization performance on the MMLU benchmark. We make all datasets, source code, and models publicly available.
Cardiovascular disease (CVD) is a leading cause of death globally, necessitating precise forecasting models for monitoring vital signs like heart rate, blood pressure, and ECG. Traditional models, such as ARIMA and Prophet, are limited by their need for manual parameter tuning and challenges in handling noisy, sparse, and highly variable medical data. This study investigates advanced deep learning models, including LSTM, and transformer-based architectures, for predicting heart rate time series from the MIT-BIH Database. Results demonstrate that deep learning models, particularly PatchTST, significantly outperform traditional models across multiple metrics, capturing complex patterns and dependencies more effectively. This research underscores the potential of deep learning to enhance patient monitoring and CVD management, suggesting substantial clinical benefits. Future work should extend these findings to larger, more diverse datasets and real-world clinical applications to further validate and optimize model performance.
In the field of medical imaging, particularly in tasks related to early disease detection and prognosis, understanding the reasoning behind AI model predictions is imperative for assessing their reliability. Conventional explanation methods encounter challenges in identifying decisive features in medical image classifications, especially when discriminative features are subtle or not immediately evident. To address this limitation, we propose an agent model capable of generating counterfactual images that prompt different decisions when plugged into a black box model. By employing this agent model, we can uncover influential image patterns that impact the black model's final predictions. Through our methodology, we efficiently identify features that influence decisions of the deep black box. We validated our approach in the rigorous domain of medical prognosis tasks, showcasing its efficacy and potential to enhance the reliability of deep learning models in medical image classification compared to existing interpretation methods. The code will be publicly available at //github.com/ayanglab/DiffExplainer.
The typical training of neural networks using large stepsize gradient descent (GD) under the logistic loss often involves two distinct phases, where the empirical risk oscillates in the first phase but decreases monotonically in the second phase. We investigate this phenomenon in two-layer networks that satisfy a near-homogeneity condition. We show that the second phase begins once the empirical risk falls below a certain threshold, dependent on the stepsize. Additionally, we show that the normalized margin grows nearly monotonically in the second phase, demonstrating an implicit bias of GD in training non-homogeneous predictors. If the dataset is linearly separable and the derivative of the activation function is bounded away from zero, we show that the average empirical risk decreases, implying that the first phase must stop in finite steps. Finally, we demonstrate that by choosing a suitably large stepsize, GD that undergoes this phase transition is more efficient than GD that monotonically decreases the risk. Our analysis applies to networks of any width, beyond the well-known neural tangent kernel and mean-field regimes.
The integration of artificial intelligence (AI) in medical diagnostics represents a significant advancement in managing upper gastrointestinal (GI) cancer, a major cause of global cancer mortality. Specifically for gastric cancer (GC), chronic inflammation causes changes in the mucosa such as atrophy, intestinal metaplasia (IM), dysplasia and ultimately cancer. Early detection through endoscopic regular surveillance is essential for better outcomes. Foundation models (FM), which are machine or deep learning models trained on diverse data and applicable to broad use cases, offer a promising solution to enhance the accuracy of endoscopy and its subsequent pathology image analysis. This review explores the recent advancements, applications, and challenges associated with FM in endoscopy and pathology imaging. We started by elucidating the core principles and architectures underlying these models, including their training methodologies and the pivotal role of large-scale data in developing their predictive capabilities. Moreover, this work discusses emerging trends and future research directions, emphasizing the integration of multimodal data, the development of more robust and equitable models, and the potential for real-time diagnostic support. This review aims to provide a roadmap for researchers and practitioners in navigating the complexities of incorporating FM into clinical practice for prevention/management of GC cases, thereby improving patient outcomes.
Early diagnosis of breast cancer (BC) significantly contributes to reducing the mortality rate worldwide. The detection of different factors and biomarkers such as Estrogen receptor (ER), Progesterone receptor (PR), Human epidermal growth factor receptor 2 (HER2) gene, Histological grade (HG), Auxiliary lymph node (ALN) status, and Molecular subtype (MS) can play a significant role in improved BC diagnosis. However, the existing methods predict only a single factor which makes them less suitable to use in diagnosis and designing a strategy for treatment. In this paper, we propose to classify the six essential indicating factors (ER, PR, HER2, ALN, HG, MS) for early BC diagnosis using H\&E stained WSI's. To precisely capture local neighboring relationships, we use spatial and frequency domain information from the large patch size of WSI's malignant regions. Furthermore, to cater the variable number of regions of interest sizes and give due attention to each region, we propose a malignant region learning attention network. Our experimental results demonstrate that combining spatial and frequency information using the malignant region learning module significantly improves multi-factor and single-factor classification performance on publicly available datasets.
Traditional diagnosis of chronic diseases involves in-person consultations with physicians to identify the disease. However, there is a lack of research focused on predicting and developing application systems using clinical notes and blood test values. We collected five years of Electronic Health Records (EHRs) from Taiwan's hospital database between 2017 and 2021 as an AI database. Furthermore, we developed an EHR-based chronic disease prediction platform utilizing Large Language Multimodal Models (LLMMs), successfully integrating with frontend web and mobile applications for prediction. This prediction platform can also connect to the hospital's backend database, providing physicians with real-time risk assessment diagnostics. The demonstration link can be found at //www.youtube.com/watch?v=oqmL9DEDFgA.
Understanding causality helps to structure interventions to achieve specific goals and enables predictions under interventions. With the growing importance of learning causal relationships, causal discovery tasks have transitioned from using traditional methods to infer potential causal structures from observational data to the field of pattern recognition involved in deep learning. The rapid accumulation of massive data promotes the emergence of causal search methods with brilliant scalability. Existing summaries of causal discovery methods mainly focus on traditional methods based on constraints, scores and FCMs, there is a lack of perfect sorting and elaboration for deep learning-based methods, also lacking some considers and exploration of causal discovery methods from the perspective of variable paradigms. Therefore, we divide the possible causal discovery tasks into three types according to the variable paradigm and give the definitions of the three tasks respectively, define and instantiate the relevant datasets for each task and the final causal model constructed at the same time, then reviews the main existing causal discovery methods for different tasks. Finally, we propose some roadmaps from different perspectives for the current research gaps in the field of causal discovery and point out future research directions.
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