Polygenic Risk Score for Cardiovascular Diseases in Artificial Intelligence Paradigm: A Review

Cardiovascular disease (CVD) related mortality and morbidity heavily strain society. The relationship between external risk factors and our genetics have not been well established. It is widely acknowledged that environmental influence and individual behaviours play a significant role in CVD vulnerability, leading to the development of polygenic risk scores (PRS). We employed the PRISMA search method to locate pertinent research and literature to extensively review artificial intelligence (AI)-based PRS models for CVD risk prediction. Furthermore, we analyzed and compared conventional vs. AI-based solutions for PRS. We summarized the recent advances in our understanding of the use of AI-based PRS for risk prediction of CVD. Our study proposes three hypotheses: i) Multiple genetic variations and risk factors can be incorporated into AI-based PRS to improve the accuracy of CVD risk predicting. ii) AI-based PRS for CVD circumvents the drawbacks of conventional PRS calculators by incorporating a larger variety of genetic and non-genetic components, allowing for more precise and individualised risk estimations. iii) Using AI approaches, it is possible to significantly reduce the dimensionality of huge genomic datasets, resulting in more accurate and effective disease risk prediction models. Our study highlighted that the AI-PRS model outperformed traditional PRS calculators in predicting CVD risk. Furthermore, using AI-based methods to calculate PRS may increase the precision of risk predictions for CVD and have significant ramifications for individualized prevention and treatment plans

Polygenic Risk Score for Cardiovascular Diseases in Artificial Intelligence Paradigm

Cardiovascular disease (CVD) related mortality and morbidity heavily strain society. The relationship between external risk factors and our genetics have not been well established. It is widely acknowledged that environmental influence and individual behaviours play a significant role in CVD vulnerability, leading to the development of polygenic risk scores (PRS). We employed the PRISMA search method to locate pertinent research and literature to extensively review artificial intelligence (AI)-based PRS models for CVD risk prediction. Furthermore, we analyzed and compared conventional vs. AI-based solutions for PRS. We summarized the recent advances in our understanding of the use of AI-based PRS for risk prediction of CVD. Our study proposes three hypotheses: i) Multiple genetic variations and risk factors can be incorporated into AI-based PRS to improve the accuracy of CVD risk predicting. ii) AI-based PRS for CVD circumvents the drawbacks of conventional PRS calculators by incorporating a larger variety of genetic and non-genetic components, allowing for more precise and individualised risk estimations. iii) Using AI approaches, it is possible to significantly reduce the dimensionality of huge genomic datasets, resulting in more accurate and effective disease risk prediction models. Our study highlighted that the AI-PRS model outperformed traditional PRS calculators in predicting CVD risk. Furthermore, using AI-based methods to calculate PRS may increase the precision of risk predictions for CVD and have significant ramifications for individualized prevention and treatment plans

Comprehensive Survey of Using Machine Learning in the COVID-19 Pandemic

Since December 2019, the global health population has faced the rapid spreading of coronavirus disease (COVID-19). With the incremental acceleration of the number of infected cases, the World Health Organization (WHO) has reported COVID-19 as an epidemic that puts a heavy burden on healthcare sectors in almost every country. The potential of artificial intelligence (AI) in this context is difficult to ignore. AI companies have been racing to develop innovative tools that contribute to arm the world against this pandemic and minimize the disruption that it may cause. The main objective of this study is to survey the decisive role of AI as a technology used to fight against the COVID-19 pandemic. Five significant applications of AI for COVID-19 were found, including (1) COVID-19 diagnosis using various data types (e.g., images, sound, and text); (2) estimation of the possible future spread of the disease based on the current confirmed cases; (3) association between COVID-19 infection and patient characteristics; (4) vaccine development and drug interaction; and (5) development of supporting applications. This study also introduces a comparison between current COVID-19 datasets. Based on the limitations of the current literature, this review highlights the open research challenges that could inspire the future application of AI in COVID-19This work was supported by a 2021 Incheon National University Research Grant. This work was also supported by the National Research Foundation of Korea (NRF) grant funded by the Korea government (MSIT) (No. 2020R1A4A4079299)S

Medical Internet-of-Things Based Breast Cancer Diagnosis Using Hyperparameter-Optimized Neural Networks

In today’s healthcare setting, the accurate and timely diagnosis of breast cancer is critical for recovery and treatment in the early stages. In recent years, the Internet of Things (IoT) has experienced a transformation that allows the analysis of real-time and historical data using artificial intelligence (AI) and machine learning (ML) approaches. Medical IoT combines medical devices and AI applications with healthcare infrastructure to support medical diagnostics. The current state-of-the-art approach fails to diagnose breast cancer in its initial period, resulting in the death of most women. As a result, medical professionals and researchers are faced with a tremendous problem in early breast cancer detection. We propose a medical IoT-based diagnostic system that competently identifies malignant and benign people in an IoT environment to resolve the difficulty of identifying early-stage breast cancer. The artificial neural network (ANN) and convolutional neural network (CNN) with hyperparameter optimization are used for malignant vs. benign classification, while the Support Vector Machine (SVM) and Multilayer Perceptron (MLP) were utilized as baseline classifiers for comparison. Hyperparameters are important for machine learning algorithms since they directly control the behaviors of training algorithms and have a significant effect on the performance of machine learning models. We employ a particle swarm optimization (PSO) feature selection approach to select more satisfactory features from the breast cancer dataset to enhance the classification performance using MLP and SVM, while grid-based search was used to find the best combination of the hyperparameters of the CNN and ANN models. The Wisconsin Diagnostic Breast Cancer (WDBC) dataset was used to test the proposed approach. The proposed model got a classification accuracy of 98.5% using CNN, and 99.2% using ANN.publishedVersio

Developments in Transduction, Connectivity and AI/Machine Learning for Point-of-Care Testing

We review some emerging trends in transduction, connectivity and data analytics for Point-of-Care Testing (POCT) of infectious and non-communicable diseases. The patient need for POCT is described along with developments in portable diagnostics, specifically in respect of Lab-on-chip and microfluidic systems. We describe some novel electrochemical and photonic systems and the use of mobile phones in terms of hardware components and device connectivity for POCT. Developments in data analytics that are applicable for POCT are described with an overview of data structures and recent AI/Machine learning trends. The most important methodologies of machine learning, including deep learning methods, are summarised. The potential value of trends within POCT systems for clinical diagnostics within Lower Middle Income Countries (LMICs) and the Least Developed Countries (LDCs) are highlighted

A Review on Skin Disease Classification and Detection Using Deep Learning Techniques

Skin cancer ranks among the most dangerous cancers. Skin cancers are commonly referred to as Melanoma. Melanoma is brought on by genetic faults or mutations on the skin, which are caused by Unrepaired Deoxyribonucleic Acid (DNA) in skin cells. It is essential to detect skin cancer in its infancy phase since it is more curable in its initial phases. Skin cancer typically progresses to other regions of the body. Owing to the disease's increased frequency, high mortality rate, and prohibitively high cost of medical treatments, early diagnosis of skin cancer signs is crucial. Due to the fact that how hazardous these disorders are, scholars have developed a number of early-detection techniques for melanoma. Lesion characteristics such as symmetry, colour, size, shape, and others are often utilised to detect skin cancer and distinguish benign skin cancer from melanoma. An in-depth investigation of deep learning techniques for melanoma's early detection is provided in this study. This study discusses the traditional feature extraction-based machine learning approaches for the segmentation and classification of skin lesions. Comparison-oriented research has been conducted to demonstrate the significance of various deep learning-based segmentation and classification approaches

COVLIAS 2.0-cXAI: Cloud-Based Explainable Deep Learning System for COVID-19 Lesion Localization in Computed Tomography Scans

Background: The previous COVID-19 lung diagnosis system lacks both scientific validation and the role of explainable artificial intelligence (AI) for understanding lesion localization. This study presents a cloud-based explainable AI, the “COVLIAS 2.0-cXAI” system using four kinds of class activation maps (CAM) models. Methodology: Our cohort consisted of ~6000 CT slices from two sources (Croatia, 80 COVID-19 patients and Italy, 15 control patients). COVLIAS 2.0-cXAI design consisted of three stages: (i) automated lung segmentation using hybrid deep learning ResNet-UNet model by automatic adjustment of Hounsfield units, hyperparameter optimization, and parallel and distributed training, (ii) classification using three kinds of DenseNet (DN) models (DN-121, DN-169, DN-201), and (iii) validation using four kinds of CAM visualization techniques: gradient-weighted class activation mapping (Grad-CAM), Grad-CAM++, score-weighted CAM (Score-CAM), and FasterScore-CAM. The COVLIAS 2.0-cXAI was validated by three trained senior radiologists for its stability and reliability. The Friedman test was also performed on the scores of the three radiologists. Results: The ResNet-UNet segmentation model resulted in dice similarity of 0.96, Jaccard index of 0.93, a correlation coefficient of 0.99, with a figure-of-merit of 95.99%, while the classifier accuracies for the three DN nets (DN-121, DN-169, and DN-201) were 98%, 98%, and 99% with a loss of ~0.003, ~0.0025, and ~0.002 using 50 epochs, respectively. The mean AUC for all three DN models was 0.99 (p < 0.0001). The COVLIAS 2.0-cXAI showed 80% scans for mean alignment index (MAI) between heatmaps and gold standard, a score of four out of five, establishing the system for clinical settings. Conclusions: The COVLIAS 2.0-cXAI successfully showed a cloud-based explainable AI system for lesion localization in lung CT scans

Case Studies on X-Ray Imaging, MRI and Nuclear Imaging

The field of medical imaging is an essential aspect of the medical sciences, involving various forms of radiation to capture images of the internal tissues and organs of the body. These images provide vital information for clinical diagnosis, and in this chapter, we will explore the use of X-ray, MRI, and nuclear imaging in detecting severe illnesses. However, manual evaluation and storage of these images can be a challenging and time-consuming process. To address this issue, artificial intelligence (AI)-based techniques, particularly deep learning (DL), have become increasingly popular for systematic feature extraction and classification from imaging modalities, thereby aiding doctors in making rapid and accurate diagnoses. In this review study, we will focus on how AI-based approaches, particularly the use of Convolutional Neural Networks (CNN), can assist in disease detection through medical imaging technology. CNN is a commonly used approach for image analysis due to its ability to extract features from raw input images, and as such, will be the primary area of discussion in this study. Therefore, we have considered CNN as our discussion area in this study to diagnose ailments using medical imaging technology.Comment: 14 pages, 3 figures, 4 tables; Acceptance of the chapter for the Springer book "Data-driven approaches to medical imaging