Retinal diseases spanning a broad spectrum can be effectively identified and diagnosed using complementary signals from multimodal data. However, multimodal diagnosis in ophthalmic practice is typically challenged in terms of data heterogeneity, potential invasiveness, registration complexity, and so on. As such, a unified framework that integrates multimodal data synthesis and fusion is proposed for retinal disease classification and grading. Specifically, the synthesized multimodal data incorporates fundus fluorescein angiography (FFA), multispectral imaging (MSI), and saliency maps that emphasize latent lesions as well as optic disc/cup regions. Parallel models are independently trained to learn modality-specific representations that capture cross-pathophysiological signatures. These features are then adaptively calibrated within and across modalities to perform information pruning and flexible integration according to downstream tasks. The proposed learning system is thoroughly interpreted through visualizations in both image and feature spaces. Extensive experiments on two public datasets demonstrated the superiority of our approach over state-of-the-art ones in the tasks of m
The systemic, metabolic, lifestyle factors have established associations with Alzheimer's Disease (AD) through epidemiologic and AD-specific biomarker studies. Whether colored fundus photography (CFP) contains retinal structural signatures corresponding to these AD-related risk domains remains unclear. To determine whether deep learning (DL) models can predict 12 AD-related risk factors from CFP and to characterize the retinal structures underlying these predictions, thereby assessing whether CFP reflects pathways to AD vulnerability. Using 62,876 CFPs from 44,501 unique participants from the UK Biobank, DL models were trained to predict 12 factors linked to AD incidence: 6 categorical (sex, smoking, sleeplessness, economic status, alcohol use, depression) and 6 continuous (age, age at completing education, BMI, systolic, diastolic blood pressure, HbA1c). Model performance, model saliency, and saliency-derived scores (CAM-Score) were evaluated and compared to retinal morphometry. The scores were also compared between incident-AD cases (average 8.55 years before onset) and matched controls. Performance of DL ranged from AUROC= 0.5654-0.9480 for categorical and R2=-0.0291-0.7620 for
Modelling the progression of Degenerative Diseases (DD) is essential for detection, prevention, and treatment, yet it remains challenging due to the heterogeneity in disease trajectories among individuals. Factors such as demographics, genetic conditions, and lifestyle contribute to diverse phenotypical manifestations, necessitating patient stratification based on these variations. Recent methods like Subtype and Stage Inference (SuStaIn) have advanced unsupervised stratification of disease trajectories, but they face potential limitations in robustness, interpretability, and temporal granularity. To address these challenges, we introduce Disease Progression Modelling and Stratification (DP-MoSt), a novel probabilistic method that optimises clusters of continuous trajectories over a long-term disease time-axis while estimating the confidence of trajectory sub-types for each biomarker. We validate DP-MoSt using both synthetic and real-world data from the Parkinson's Progression Markers Initiative (PPMI). Our results demonstrate that DP-MoSt effectively identifies both sub-trajectories and subpopulations, and is a promising alternative to current state-of-the-art models.
Estimating brain age (BA) from T1-weighted magnetic resonance images (MRIs) provides a powerful framework for quantifying anatomical brain aging. Whereas global BA (GBA) summarizes overall brain health, local BA (LBA) provides cortically specific patterns of aging at the subject level. Although previous studies have examined anatomical contributors to GBA, to our knowledge, no framework has been established to estimate LBA using cortical morphology. To address this gap, we introduce a graph neural network (GNN) that uses morphometric features$\unicode{x2013}$cortical thickness, surface area, curvature, gray/white matter intensity ratio (GWR), sulcal depth$\unicode{x2013}$to estimate LBA across the cortical surface at high spatial resolution (mean inter-vertex distance = 1.37 mm). Trained on cortical surface meshes extracted from the MRIs of cognitively normal (CN) adults (N = 14,423), our model achieves lower mean absolute error (MAE) than the existing state-of-the-art while identifying more biologically plausible patterns of aging in Alzheimer's disease (AD) on the ADNI dataset. Association cortices emerge as primary sites of morphometric aging in CNs, whereas mild cognitive impai
Disease Intelligence (DI) is based on the acquisition and aggregation of fragmented knowledge of diseases at multiple sources all over the world to provide valuable information to doctors, researchers and information seeking community. Some diseases have their own characteristics changed rapidly at different places of the world and are reported on documents as unrelated and heterogeneous information which may be going unnoticed and may not be quickly available. This research presents an Ontology based theoretical framework in the context of medical intelligence and country/region. Ontology is designed for storing information about rapidly spreading and changing diseases with incorporating existing disease taxonomies to genetic information of both humans and infectious organisms. It further maps disease symptoms to diseases and drug effects to disease symptoms. The machine understandable disease ontology represented as a website thus allows the drug effects to be evaluated on disease symptoms and exposes genetic involvements in the human diseases. Infectious agents which have no known place in an existing classification but have data on genetics would still be identified as organism
Effective public health decisions require early reliable inference of infectious disease properties. In this paper we assess the ability to infer infectious disease attributes from population-level stochastic epidemic trajectories. In particular, we construct stochastic Kermack-McKendrick model trajectories, sample them with and without observational error, and evaluate inversions for the population mean infectiousness as a function of time since infection, the infection duration distribution, and its complementary cumulative distribution, the infection survival distribution. Based on an integro-differential equation formulation we employ a natural regression approach to fit the corresponding integral kernels and show that these disease attributes are recoverable from both multi-trajectory inversions and regularized single trajectory inversions. Moreover, we demonstrate that the infection duration distribution (or alternatively the infection survival distribution) and population mean infectiousness kernel recovered can be used to solve for the individual infectiousness profile, the infectiousness of an individual over the duration of their infection, assuming that individual infect
Digital traces of daily activities, such as e-commerce (EC) purchase histories, provide scalable signals for public health surveillance, yet their epidemiological validity remains unclear. This study validates a behavioral proxy for disease onset, defined as transitions from regular to therapeutic diets, by comparing large-scale EC data (N=55,645) against independent insurance-derived clinical records. Using feline lower urinary tract disease (FLUTD) as a case study, the proxy showed strong agreement with clinical data for ingredient-level risk patterns (r=0.74) and seasonal dynamics (r=0.82). Furthermore, analysis using EC data alone reproduced the established protective association of wet food consumption. These results demonstrate that validated behavioral signals from EC data can serve as cost-effective complements to traditional surveillance, with potential applicability to monitoring lifestyle-related diseases in human populations.
Identifying objective neuroimaging biomarkers to forecast Alzheimer's disease (AD) progression is crucial for timely intervention. However, this task remains challenging due to the complex dysfunctions in the spatio-temporal characteristics of underlying brain networks, which are often overlooked by existing methods. To address these limitations, we develop an interpretable spatio-temporal graph neural network framework to predict future AD progression, leveraging dual Stochastic Differential Equations (SDEs) to model the irregularly-sampled longitudinal functional magnetic resonance imaging (fMRI) data. We validate our approach on two independent cohorts, including the Open Access Series of Imaging Studies (OASIS-3) and the Alzheimer's Disease Neuroimaging Initiative (ADNI). Our framework effectively learns sparse regional and connective importance probabilities, enabling the identification of key brain circuit abnormalities associated with disease progression. Notably, we detect the parahippocampal cortex, prefrontal cortex, and parietal lobule as salient regions, with significant disruptions in the ventral attention, dorsal attention, and default mode networks. These abnormaliti
Modeling sparse count data, which arise across numerous scientific fields, presents significant statistical challenges. This chapter addresses these challenges in the context of infectious disease prediction, with a focus on predicting outbreaks in geographic regions that have historically reported zero cases. To this end, we present the detailed computational framework and experimental application of the Poisson Hierarchical Indian Buffet Process (PHIBP), with demonstrated success in handling sparse count data in microbiome and ecological studies. The PHIBP's architecture, grounded in the concept of absolute abundance, systematically borrows statistical strength from related regions and circumvents the known sensitivities of relative-rate methods to zero counts. Through a series of experiments on infectious disease data, we show that this principled approach provides a robust foundation for generating coherent predictive distributions and for the effective use of comparative measures such as alpha and beta diversity. The chapter's emphasis on algorithmic implementation and experimental results confirms that this unified framework delivers both accurate outbreak predictions and mea
Coronary Artery Disease (CAD) remains a leading cause of morbidity and mortality worldwide. Early detection is critical to recover patient outcomes and decrease healthcare costs. In recent years, machine learning (ML) advancements have shown significant potential in enhancing the accuracy of CAD diagnosis. This study investigates the application of ML algorithms to improve the detection of CAD by analyzing patient data, including clinical features, imaging, and biomarker profiles. Bi-directional Long Short-Term Memory (Bi-LSTM), Gated Recurrent Units (GRU), and a hybrid of Bi-LSTM+GRU were trained on large datasets to predict the presence of CAD. Results demonstrated that these ML models outperformed traditional diagnostic methods in sensitivity and specificity, offering a robust tool for clinicians to make more informed decisions. The experimental results show that the hybrid model achieved an accuracy of 97.07%. By integrating advanced data preprocessing techniques and feature selection, this study ensures optimal learning and model performance, setting a benchmark for the application of ML in CAD diagnosis. The integration of ML into CAD detection presents a promising avenue for
Simulating prospective magnetic resonance imaging (MRI) scans from a given individual brain image is challenging, as it requires accounting for canonical changes in aging and/or disease progression while also considering the individual brain's current status and unique characteristics. While current deep generative models can produce high-resolution anatomically accurate templates for population-wide studies, their ability to predict future aging trajectories for individuals remains limited, particularly in capturing subject-specific neuroanatomical variations over time. In this study, we introduce Individualized Brain Synthesis (InBrainSyn), a framework for synthesizing high-resolution subject-specific longitudinal MRI scans that simulate neurodegeneration in both Alzheimer's disease (AD) and normal aging. InBrainSyn uses a parallel transport algorithm to adapt the population-level aging trajectories learned by a generative deep template network, enabling individualized aging synthesis. As InBrainSyn uses diffeomorphic transformations to simulate aging, the synthesized images are topologically consistent with the original anatomy by design. We evaluated InBrainSyn both quantitativ
Understanding the progression trajectories of diseases is crucial for early diagnosis and effective treatment planning. This is especially vital for life-threatening conditions such as Idiopathic Pulmonary Fibrosis (IPF), a chronic, progressive lung disease with a prognosis comparable to many cancers. Computed tomography (CT) imaging has been established as a reliable diagnostic tool for IPF. Accurately predicting future CT scans of early-stage IPF patients can aid in developing better treatment strategies, thereby improving survival outcomes. In this paper, we propose 4D Vector Quantised Generative Adversarial Networks (4D-VQ-GAN), a model capable of generating realistic CT volumes of IPF patients at any time point. The model is trained using a two-stage approach. In the first stage, a 3D-VQ-GAN is trained to reconstruct CT volumes. In the second stage, a Neural Ordinary Differential Equation (ODE) based temporal model is trained to capture the temporal dynamics of the quantised embeddings generated by the encoder in the first stage. We evaluate different configurations of our model for generating longitudinal CT scans and compare the results against ground truth data, both quanti
Dermatological conditions affect 1.9 billion people globally, yet accurate diagnosis remains challenging due to limited specialist availability and complex clinical presentations. Family history significantly influences skin disease susceptibility and treatment responses, but is often underutilized in diagnostic processes. This research addresses the critical question: How can AI-powered systems integrate family history data with clinical imaging to enhance dermatological diagnosis while supporting clinical trial validation and real-world implementation? We developed a comprehensive multi-modal AI framework that combines deep learning-based image analysis with structured clinical data, including detailed family history patterns. Our approach employs interpretable convolutional neural networks integrated with clinical decision trees that incorporate hereditary risk factors. The methodology includes prospective clinical trials across diverse healthcare settings to validate AI-assisted diagnosis against traditional clinical assessment. In this work, validation was conducted with healthcare professionals to assess AI-assisted outputs against clinical expectations; prospective clinical
INTRODUCTION: Alzheimer's disease (AD) is genetically complex, complicating robust classification from genomic data. METHODS: We developed a transformer-based ensemble model (TrUE-Net) using Monte Carlo Dropout for uncertainty estimation in AD classification from whole-genome sequencing (WGS). We combined a transformer that preserves single-nucleotide polymorphism (SNP) sequence structure with a concurrent random forest using flattened genotypes. An uncertainty threshold separated samples into an uncertain (high-variance) group and a more certain (low-variance) group. RESULTS: We analyzed 1050 individuals, holding out half for testing. Overall accuracy and area under the receiver operating characteristic (ROC) curve (AUC) were 0.6514 and 0.6636, respectively. Excluding the uncertain group improved accuracy from 0.6263 to 0.7287 (10.24% increase) and F1 from 0.5843 to 0.8205 (23.62% increase). DISCUSSION: Monte Carlo Dropout-driven uncertainty helps identify ambiguous cases that may require further clinical evaluation, thus improving reliability in AD genomic classification.
Coronary artery disease remains one of the leading causes of mortality globally. Despite advances in revascularization treatments like PCI and CABG, postoperative stroke is inevitable. This study aims to develop and evaluate a sophisticated machine learning prediction model to assess postoperative stroke risk in coronary revascularization patients.This research employed data from the MIMIC-IV database, consisting of a cohort of 7023 individuals. Study data included clinical, laboratory, and comorbidity variables. To reduce multicollinearity, variables with over 30% missing values and features with a correlation coefficient larger than 0.9 were deleted. The dataset has 70% training and 30% test. The Random Forest technique interpolated residual dataset missing values. Numerical values were normalized, whereas categorical variables were one-hot encoded. LASSO regularization selected features, and grid search found model hyperparameters. Finally, Logistic Regression, XGBoost, SVM, and CatBoost were employed for predictive modeling, and SHAP analysis assessed stroke risk for each variable. AUC of 0.855 (0.829-0.878) showed that SVM model outperformed logistic regression and CatBoost mo
The detection of Alzheimer disease (AD) from clinical MRI data is an active area of research in medical imaging. Recent advances in quantum computing, particularly the integration of parameterized quantum circuits (PQCs) with classical machine learning architectures, offer new opportunities to develop models that may outperform traditional methods. However, quantum machine learning (QML) remains in its early stages and requires further experimental analysis to better understand its behavior and limitations. In this paper, we propose an end to end hybrid classical quantum convolutional neural network (CQ CNN) for AD detection using clinically formatted 3D MRI data. Our approach involves developing a framework to make 3D MRI data usable for machine learning, designing and training a brain tissue segmentation model (Skull Net), and training a diffusion model to generate synthetic images for the minority class. Our converged models exhibit potential quantum advantages, achieving higher accuracy in fewer epochs than classical models. The proposed beta8 3 qubit model achieves an accuracy of 97.50%, surpassing state of the art (SOTA) models while requiring significantly fewer computationa
Progressive cognitive decline spanning across decades is characteristic of Alzheimer's disease (AD). Various predictive models have been designed to realize its early onset and study the long-term trajectories of cognitive test scores across populations of interest. Research efforts have been geared towards superimposing patients' cognitive test scores with the long-term trajectory denoting gradual cognitive decline, while considering the heterogeneity of AD. Multiple trajectories representing cognitive assessment for the long-term have been developed based on various parameters, highlighting the importance of classifying several groups based on disease progression patterns. In this study, a novel method capable of self-organized prediction, classification, and the overlay of long-term cognitive trajectories based on short-term individual data was developed, based on statistical and differential equation modeling. We validated the predictive accuracy of the proposed method for the long-term trajectory of cognitive test score results on two cohorts: the Alzheimer's Disease Neuroimaging Initiative (ADNI) study and the Japanese ADNI study. We also presented two practical illustrations
This paper proposes a knowledge-enhanced disease diagnosis method based on a prompt learning framework. The method retrieves structured knowledge from external knowledge graphs related to clinical cases, encodes it, and injects it into the prompt templates to enhance the language model's understanding and reasoning capabilities for the task.We conducted experiments on three public datasets: CHIP-CTC, IMCS-V2-NER, and KUAKE-QTR. The results show that the proposed method significantly outperforms existing models across multiple evaluation metrics, with an F1 score improvement of 2.4% on the CHIP-CTC dataset, 3.1% on the IMCS-V2-NER dataset,and 4.2% on the KUAKE-QTR dataset. Additionally,ablation studies confirmed the critical role of the knowledge injection module,as the removal of this module resulted in a significant drop in F1 score. The experimental results demonstrate that the proposed method not only effectively improves the accuracy of disease diagnosis but also enhances the interpretability of the predictions, providing more reliable support and evidence for clinical diagnosis.
The tomato is one of the most important fruits on earth. It plays an important and useful role in the agricultural production of any country. This research propose a novel smart technique for early detection of late blight diseases in tomatoes. This work improve the dataset with an increase in images from the field (the Plant Village dataset) and proposed a hybrid algorithm composed of support vector machines (SVM) and histogram-oriented gradients (HOG) for real-time detection of late blight tomato disease. To propose a HOG-based SVM model for early detection of late blight tomato leaf disease. To check the performance of the proposed model in terms of MSE, accuracy, precision, and recall as compared to Decision Tree and KNN. The integration of advanced technology in agriculture has the potential to revolutionize the industry, making it more efficient, sustainable, and profitable. This research work on the early detection of tomato diseases contributes to the growing importance of smart farming, the need for climate-smart agriculture, the rising need to more efficiently utilize natural resources, and the demand for higher crop yields. The proposed hybrid algorithm of SVM and HOG ha
Early detection of Alzheimer's Disease (AD) and its prodromal state, Mild Cognitive Impairment (MCI), is crucial for providing suitable treatment and preventing the disease from progressing. It can also aid researchers and clinicians to identify early biomarkers and minister new treatments that have been a subject of extensive research. The application of deep learning techniques on structural Magnetic Resonance Imaging (MRI) has shown promising results in diagnosing the disease. In this research, we intend to introduce a novel approach of using an ensemble of the self-attention-based Bottleneck Transformers with a sharpness aware minimizer for early detection of Alzheimer's Disease. The proposed approach has been tested on the widely accepted ADNI dataset and evaluated using accuracy, precision, recall, F1 score, and ROC-AUC score as the performance metrics.