ABSTRACT
A polygenic risk score (PRS) is derived from a genome-wide association study and represents an aggregate of thousands of single-nucleotide polymorphisms that provide a baseline estimate of an individual's genetic risk for a specific disease or trait at birth. However, it remains unclear how PRSs can be used in clinical practice. We provide an overview of the PRSs related to cardiometabolic disease and discuss the evidence supporting their clinical applications and limitations. The Preferred Reporting Items For Systematic Reviews and Meta-Analysis Extension for Scoping Reviews protocol was used to conduct a scoping review of the MEDLINE, EMBASE, and CENTRAL databases. Across the 4863 studies screened, 82 articles met the inclusion criteria. The most common PRS related to coronary artery disease, followed by hypertension and cerebrovascular disease. Limited ancestral diversity was observed in the study sample populations. Most studies included only individuals of European ancestry. The predictive performance of most PRSs was similar to or superior to traditional risk factors. More than half of the included studies reported an integrated risk model combining a derived PRS and clinical risk tools such as the Framingham Risk Score and Pooled Cohort Equations. The inclusion of a PRS into a clinical risk model tended to improve predictive accuracy consistently. This scoping review is the first of its kind and reports strong evidence for the clinical utility of PRSs in coronary artery disease, hypertension, cerebrovascular disease, and atrial fibrillation. However, most PRSs are generated in cohorts of European ancestry, which likely contributes to a lack of PRS transferability across different ancestral groups. Future prospective studies should focus on further establishing the clinical utility of PRSs and ensuring diversity is incorporated into genome-wide association study cohorts.
Subject(s)
Coronary Artery Disease , Hypertension , Infant, Newborn , Humans , Coronary Artery Disease/genetics , Genome-Wide Association Study , Prospective Studies , Genetic Predisposition to Disease , Risk Factors , Hypertension/geneticsABSTRACT
The COVID-19 pandemic has significantly affected the psychological stability of general population of Pakistan. However, research on the severity of COVID-19 induced depression, anxiety, and stress (DAS) in Pakistan is scarce. This paper thereby investigates the severity of COVID-19 induced DAS based on demographic, socioeconomic, and personal feeling variables by modeling DAS. Snowball sampling strategy was adopted to conduct online survey from July 03, 2021 to July 09, 2021. Out of 2,442, 2,069 responses from Karachi were included. Descriptive and inferential statistics (binary and multinomial logistic regression analysis) were performed using SPSS V21 (IBM, 2013) to identify significant determinants and their association with DAS severity. The result of this study indicates 27.8, 21.7, and 18.3% respondents suffer from severe and extremely severe states of depression, anxiety, and stress, respectively. Binary logistic regression revealed that age is a significant determinant with odds of having 4.72 (95% CI = 1.86-11.97) and 5.86 (95% CI = 2.26-15.2) times greater depression, and stress for respondents aged 19-26 years. Moreover, gender-based difference is also observed with females 1.34 (95% CI = 1.08-1.68) and 1.75 (95% CI = 1.40-2.20) times more likely to exhibit anxiety and stress than males. Furthermore, marital status is a significant determinant of depression with odds of having depression is 0.67 (95% CI = 0.48-0.93) times greater for married population. Multinomial logistic regression revealed that those who believe COVID-19 pandemic has affected them mentally, fear new COVID-19 cases and deaths, depressed due to imposition of lockdown, believe they will not survive COVID-19 infection, and spend more time on social media gathering COVID-19 updates suffer from extremely severe state of depression (OR mental-effect-of-pandemic = 3.70, OR new-COVID-19-cases-and-deaths = 2.20, OR imposition-of-lockdown = 17.77, OR survival-probability = 8.17, OR time-on-social-media = 9.01), anxiety (OR mental-effect-of-pandemic = 4.78, OR new-COVID-19-cases-and-deaths = 3.52, OR imposition-of-lockdown = 5.06, OR survival-probability = 8.86, OR time-on-social-media = 5.12) and stress (OR mental-effect-of-pandemic = 6.07, OR imposition-of-lockdown = 11.38, OR survival-probability = 15.66, OR time-on-social-media = 4.39). Information regarding DAS severity will serve as a platform for research centers and psychological clinics, to work collectively and provide technology-based treatment to reduce the burden on the limited number of psychologist and psychotherapist.
ABSTRACT
Clinical artificial intelligence (AI) applications are rapidly developing but existing medical school curricula provide limited teaching covering this area. Here we describe an AI training curriculum we developed and delivered to Canadian medical undergraduates and provide recommendations for future training.
ABSTRACT
Machine learning techniques are increasingly becoming incorporated into biological research workflows in a variety of disciplines, most notably cancer research and drug discovery. Efforts in stem cell research comparatively lag behind. We detail key paradigms in machine learning, with a focus on equipping stem cell biologists with the understanding necessary to begin conceptualizing and designing machine learning workflows within their own domain of expertise. Supervised approaches in both regression and classification as well as unsupervised clustering techniques are all covered, with examples from across the biological sciences. High-throughput, high-content, multiplex assays for data acquisition are also discussed in the form of single-cell RNA sequencing and image-based approaches. Lastly, potential applications in stem cell biology, including the development of novel cell types, and improving model maturation are also discussed. Machine learning approaches applied in stem cell biology show promise in accelerating progress in developmental biology, drug screening, disease modeling, and personalized medicine. © 2021 Wiley Periodicals LLC.
Subject(s)
Machine Learning , Precision Medicine , Cell Culture Techniques , Cell Differentiation , Stem CellsABSTRACT
We introduce a random-access parallel (RAP) imaging modality that uses a novel design inspired by a Newtonian telescope to image multiple spatially separated samples without moving parts or robotics. This scheme enables near-simultaneous image capture of multiple petri dishes and random-access imaging with sub-millisecond switching times at the full resolution of the camera. This enables the RAP system to capture long-duration records from different samples in parallel, which is not possible using conventional automated microscopes. The system is demonstrated by continuously imaging multiple cardiac monolayer and Caenorhabditis elegans preparations.