Heart disease, also known as cardiovascular disease, is a prevalent and critical medical condition characterized by the impairment of the heart and blood vessels, leading to various complications such as coronary artery disease, heart failure, and myocardial infarction. The timely and accurate detection of heart disease is of paramount importance in clinical practice. Early identification of individuals at risk enables proactive interventions, preventive measures, and personalized treatment strategies to mitigate the progression of the disease and reduce adverse outcomes. In recent years, the field of heart disease detection has witnessed notable advancements due to the integration of sophisticated technologies and computational approaches. These include machine learning algorithms, data mining techniques, and predictive modeling frameworks that leverage vast amounts of clinical and physiological data to improve diagnostic accuracy and risk stratification. In this work, we propose to detect heart disease from ECG images using cutting-edge technologies, namely vision transformer models. These models are Google-Vit, Microsoft-Beit, and Swin-Tiny. To the best of our knowledge, this is the initial endeavor concentrating on the detection of heart diseases through image-based ECG data by employing cuttingedge technologies namely, transformer models. To demonstrate the contribution of the proposed framework, the performance of vision transformer models are compared with state-of-the-art studies. Experiment results show that the proposed framework exhibits remarkable classification results.
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The Health Index (HI) is crucial for evaluating system health, aiding tasks like anomaly detection and predicting remaining useful life for systems demanding high safety and reliability. Tight monitoring is crucial for achieving high precision at a lower cost, with applications such as spray coating. Obtaining HI labels in real-world applications is often cost-prohibitive, requiring continuous, precise health measurements. Therefore, it is more convenient to leverage run-to failure datasets that may provide potential indications of machine wear condition, making it necessary to apply semi-supervised tools for HI construction. In this study, we adapt the Deep Semi-supervised Anomaly Detection (DeepSAD) method for HI construction. We use the DeepSAD embedding as a condition indicators to address interpretability challenges and sensitivity to system-specific factors. Then, we introduce a diversity loss to enrich condition indicators. We employ an alternating projection algorithm with isotonic constraints to transform the DeepSAD embedding into a normalized HI with an increasing trend. Validation on the PHME 2010 milling dataset, a recognized benchmark with ground truth HIs demonstrates meaningful HIs estimations. Our methodology is then applied to monitor wear states of thermal spray coatings using high-frequency voltage. Our contributions create opportunities for more accessible and reliable HI estimation, particularly in cases where obtaining ground truth HI labels is unfeasible.
The detection of heterogeneous mental disorders based on brain readouts remains challenging due to the complexity of symptoms and the absence of reliable biomarkers. This paper introduces CAM (Cortical Anomaly Detection through Masked Image Modeling), a novel self-supervised framework designed for the unsupervised detection of complex brain disorders using cortical surface features. We employ this framework for the detection of individuals on the psychotic spectrum and demonstrate its capabilities compared to state-ofthe-art methods, achieving an AUC of 0.696 for Schizoaffective and 0.769 for Schizophreniform, without the need for any labels. Furthermore, the analysis of atypical cortical regions includes Pars Triangularis and several frontal areas, often implicated in schizophrenia, provide further confidence in our approach. Altogether, we demonstrate a scalable approach for anomaly detection of complex brain disorders based on cortical abnormalities.
Early detection of anomalies in medical images such as brain MRI is highly relevant for diagnosis and treatment of many conditions. Supervised machine learning methods are limited to a small number of pathologies where there is good availability of labeled data. In contrast, unsupervised anomaly detection (UAD) has the potential to identify a broader spectrum of anomalies by spotting deviations from normal patterns. Our research demonstrates that existing state-of-the-art UAD approaches do not generalise well to diverse types of anomalies in realistic multi-modal MR data. To overcome this, we introduce a new UAD method named Aggregated Normative Diffusion (ANDi). ANDi operates by aggregating differences between predicted denoising steps and ground truth backwards transitions in Denoising Diffusion Probabilistic Models (DDPMs) that have been trained on pyramidal Gaussian noise. We validate ANDi against three recent UAD baselines, and across three diverse brain MRI datasets. We show that ANDi, in some cases, substantially surpasses these baselines and shows increased robustness to varying types of anomalies. Particularly in detecting multiple sclerosis (MS) lesions, ANDi achieves improvements of up to 178% in terms of AUPRC.
Parkinson's disease (PD) is a prevalent neurodegenerative disorder known for its impact on motor neurons, causing symptoms like tremors, stiffness, and gait difficulties. This study explores the potential of vocal feature alterations in PD patients as a means of early disease prediction. This research aims to predict the onset of Parkinson's disease. Utilizing a variety of advanced machine-learning algorithms, including XGBoost, LightGBM, Bagging, AdaBoost, and Support Vector Machine, among others, the study evaluates the predictive performance of these models using metrics such as accuracy, area under the curve (AUC), sensitivity, and specificity. The findings of this comprehensive analysis highlight LightGBM as the most effective model, achieving an impressive accuracy rate of 96% alongside a matching AUC of 96%. LightGBM exhibited a remarkable sensitivity of 100% and specificity of 94.43%, surpassing other machine learning algorithms in accuracy and AUC scores. Given the complexities of Parkinson's disease and its challenges in early diagnosis, this study underscores the significance of leveraging vocal biomarkers coupled with advanced machine-learning techniques for precise and timely PD detection.
Individualized treatment rules (ITRs) have been widely applied in many fields such as precision medicine and personalized marketing. Beyond the extensive studies on ITR for binary or multiple treatments, there is considerable interest in applying combination treatments. This paper introduces a novel ITR estimation method for combination treatments incorporating interaction effects among treatments. Specifically, we propose the generalized $\psi$-loss as a non-convex surrogate in the residual weighted learning framework, offering desirable statistical and computational properties. Statistically, the minimizer of the proposed surrogate loss is Fisher-consistent with the optimal decision rules, incorporating interaction effects at any intensity level - a significant improvement over existing methods. Computationally, the proposed method applies the difference-of-convex algorithm for efficient computation. Through simulation studies and real-world data applications, we demonstrate the superior performance of the proposed method in recommending combination treatments.
High-throughput drug screening -- using cell imaging or gene expression measurements as readouts of drug effect -- is a critical tool in biotechnology to assess and understand the relationship between the chemical structure and biological activity of a drug. Since large-scale screens have to be divided into multiple experiments, a key difficulty is dealing with batch effects, which can introduce systematic errors and non-biological associations in the data. We propose InfoCORE, an Information maximization approach for COnfounder REmoval, to effectively deal with batch effects and obtain refined molecular representations. InfoCORE establishes a variational lower bound on the conditional mutual information of the latent representations given a batch identifier. It adaptively reweighs samples to equalize their implied batch distribution. Extensive experiments on drug screening data reveal InfoCORE's superior performance in a multitude of tasks including molecular property prediction and molecule-phenotype retrieval. Additionally, we show results for how InfoCORE offers a versatile framework and resolves general distribution shifts and issues of data fairness by minimizing correlation with spurious features or removing sensitive attributes. The code is available at //github.com/uhlerlab/InfoCORE.
Myocarditis is a significant cardiovascular disease (CVD) that poses a threat to the health of many individuals by causing damage to the myocardium. The occurrence of microbes and viruses, including the likes of HIV, plays a crucial role in the development of myocarditis disease (MCD). The images produced during cardiac magnetic resonance imaging (CMRI) scans are low contrast, which can make it challenging to diagnose cardiovascular diseases. In other hand, checking numerous CMRI slices for each CVD patient can be a challenging task for medical doctors. To overcome the existing challenges, researchers have suggested the use of artificial intelligence (AI)-based computer-aided diagnosis systems (CADS). The presented paper outlines a CADS for the detection of MCD from CMR images, utilizing deep learning (DL) methods. The proposed CADS consists of several steps, including dataset, preprocessing, feature extraction, classification, and post-processing. First, the Z-Alizadeh dataset was selected for the experiments. Subsequently, the CMR images underwent various preprocessing steps, including denoising, resizing, as well as data augmentation (DA) via CutMix and MixUp techniques. In the following, the most current deep pre-trained and transformer models are used for feature extraction and classification on the CMR images. The findings of our study reveal that transformer models exhibit superior performance in detecting MCD as opposed to pre-trained architectures. In terms of DL architectures, the Turbulence Neural Transformer (TNT) model exhibited impressive accuracy, reaching 99.73% utilizing a 10-fold cross-validation approach. Additionally, to pinpoint areas of suspicion for MCD in CMRI images, the Explainable-based Grad Cam method was employed.
Musculoskeletal diseases and cognitive impairments in patients lead to difficulties in movement as well as negative effects on their psychological health. Clinical gait analysis, a vital tool for early diagnosis and treatment, traditionally relies on expensive optical motion capture systems. Recent advances in computer vision and deep learning have opened the door to more accessible and cost-effective alternatives. This paper introduces a novel spatio-temporal Transformer network to estimate critical gait parameters from RGB videos captured by a single-view camera. Empirical evaluations on a public dataset of cerebral palsy patients indicate that the proposed framework surpasses current state-of-the-art approaches and show significant improvements in predicting general gait parameters (including Walking Speed, Gait Deviation Index - GDI, and Knee Flexion Angle at Maximum Extension), while utilizing fewer parameters and alleviating the need for manual feature extraction.
An accurate differential diagnosis (DDx) is a cornerstone of medical care, often reached through an iterative process of interpretation that combines clinical history, physical examination, investigations and procedures. Interactive interfaces powered by Large Language Models (LLMs) present new opportunities to both assist and automate aspects of this process. In this study, we introduce an LLM optimized for diagnostic reasoning, and evaluate its ability to generate a DDx alone or as an aid to clinicians. 20 clinicians evaluated 302 challenging, real-world medical cases sourced from the New England Journal of Medicine (NEJM) case reports. Each case report was read by two clinicians, who were randomized to one of two assistive conditions: either assistance from search engines and standard medical resources, or LLM assistance in addition to these tools. All clinicians provided a baseline, unassisted DDx prior to using the respective assistive tools. Our LLM for DDx exhibited standalone performance that exceeded that of unassisted clinicians (top-10 accuracy 59.1% vs 33.6%, [p = 0.04]). Comparing the two assisted study arms, the DDx quality score was higher for clinicians assisted by our LLM (top-10 accuracy 51.7%) compared to clinicians without its assistance (36.1%) (McNemar's Test: 45.7, p < 0.01) and clinicians with search (44.4%) (4.75, p = 0.03). Further, clinicians assisted by our LLM arrived at more comprehensive differential lists than those without its assistance. Our study suggests that our LLM for DDx has potential to improve clinicians' diagnostic reasoning and accuracy in challenging cases, meriting further real-world evaluation for its ability to empower physicians and widen patients' access to specialist-level expertise.
Human doctors with well-structured medical knowledge can diagnose a disease merely via a few conversations with patients about symptoms. In contrast, existing knowledge-grounded dialogue systems often require a large number of dialogue instances to learn as they fail to capture the correlations between different diseases and neglect the diagnostic experience shared among them. To address this issue, we propose a more natural and practical paradigm, i.e., low-resource medical dialogue generation, which can transfer the diagnostic experience from source diseases to target ones with a handful of data for adaptation. It is capitalized on a commonsense knowledge graph to characterize the prior disease-symptom relations. Besides, we develop a Graph-Evolving Meta-Learning (GEML) framework that learns to evolve the commonsense graph for reasoning disease-symptom correlations in a new disease, which effectively alleviates the needs of a large number of dialogues. More importantly, by dynamically evolving disease-symptom graphs, GEML also well addresses the real-world challenges that the disease-symptom correlations of each disease may vary or evolve along with more diagnostic cases. Extensive experiment results on the CMDD dataset and our newly-collected Chunyu dataset testify the superiority of our approach over state-of-the-art approaches. Besides, our GEML can generate an enriched dialogue-sensitive knowledge graph in an online manner, which could benefit other tasks grounded on knowledge graph.
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