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Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case (2024)
Journal Article
Evans, W., Akyea, R. K., Simms, A., Kai, J., & Qureshi, N. (2024). Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case. Journal of Community Genetics, https://doi.org/10.1007/s12687-024-00742-7

Background: Patients with rare genetic diseases frequently experience significant diagnostic delays. Routinely collected data in the electronic health record (EHR) may be used to help identify patients at risk of undiagnosed conditions. Long QT syndr... Read More about Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case.

A Scoping Review of Electronic Health Records Based Screening Algorithms for Familial Hypercholesterolemia (2024)
Journal Article
Osei, J., Razavi, A. C., Otchere, B., Bonful, G., Akoto, N., Akyea, R. K., Qureshi, N., Coronado, F., Moonesinghe, R., Kolor, K., Mensah, G. A., Sperling, L., & Khoury, M. J. (2024). A Scoping Review of Electronic Health Records Based Screening Algorithms for Familial Hypercholesterolemia. JACC: Advances, https://doi.org/10.1016/j.jacadv.2024.101297

Background
Familial hypercholesterolemia (FH) is a common genetic disorder that is strongly associated with premature cardiovascular disease. Effective diagnosis and appropriate treatment of FH can reduce cardiovascular disease risk; however, FH is... Read More about A Scoping Review of Electronic Health Records Based Screening Algorithms for Familial Hypercholesterolemia.

Risk factors for long-term cardiovascular post-acute sequelae of COVID-19 infection: A nested case-control study in Hong Kong (2024)
Journal Article
Yu, Q., Fan, M., Lin, C. J., Lui, D. T. W., Tan, K. C. B., Yiu, K. H., Akyea, R. K., Qureshi, N., Lai, F. T. T., Wan, E. Y. F., Li, X., Chan, E. W. Y., Wong, I. C. K., & Chui, C. S. L. (2024). Risk factors for long-term cardiovascular post-acute sequelae of COVID-19 infection: A nested case-control study in Hong Kong. npj Cardiovascular Health, 1(1), Article 10. https://doi.org/10.1038/s44325-024-00011-z

People with COVID-19 can experience post-acute sequelae of SARS-CoV-2 (PASC). Studies on risk factors of PASC outcomes are ongoing, especially for endocrine system-related diseases that may impact the cardiovascular system. Cardiac-related PASC is on... Read More about Risk factors for long-term cardiovascular post-acute sequelae of COVID-19 infection: A nested case-control study in Hong Kong.

Arrhythmic Mitral Valve Prolapse Phenotype: An Unsupervised Machine Learning Analysis Using a Multicenter Cardiac MRI Registry (2024)
Journal Article
Akyea, R. K., Figliozzi, S., Lopes, P. M., Bauer, K. B., Moura-Ferreira, S., Tondi, L., Mushtaq, S., Censi, S., Pavon, A. G., Bassi, I., Galian-Gay, L., Teske, A. J., Biondi, F., Filomena, D., Stylianidis, V., Torlasco, C., Muraru, D., Monney, P., Quattrocchi, G., Maestrini, V., …Masci, P.-G. (2024). Arrhythmic Mitral Valve Prolapse Phenotype: An Unsupervised Machine Learning Analysis Using a Multicenter Cardiac MRI Registry. Radiology, 6(3), Article e230247. https://doi.org/10.1148/ryct.230247

In patients with mitral valve prolapse, cardiac MRI parameters pinpointing degenerative changes of the mitral apparatus, left and right chamber remodeling, and myocardial fibrosis identified a phenotype at increased arrhythmic risk.

Purpose
To us... Read More about Arrhythmic Mitral Valve Prolapse Phenotype: An Unsupervised Machine Learning Analysis Using a Multicenter Cardiac MRI Registry.

Prevalence and distributions of severely elevated low-density lipoprotein cholesterol (LDL-c) according to age, gender and clinic location among patients in the Malaysian primary care (2024)
Journal Article
Kanchau, J. D., Akyea, R. K., Baharudin, N., Mohamed-Yassin, M., Kamal, A., Chua, Y., …Ramli, A. S. (2024). Prevalence and distributions of severely elevated low-density lipoprotein cholesterol (LDL-c) according to age, gender and clinic location among patients in the Malaysian primary care. Clinical Epidemiology and Global Health, 27, Article 101619. https://doi.org/10.1016/j.cegh.2024.101619

Background
Adults with severely elevated low-density lipoprotein cholesterol (LDL-c) may have familial hypercholesterolaemia (FH) and are at high risk of atherosclerotic cardiovascular disease (ASCVD). The prevalence of elevated LDL-c in primary car... Read More about Prevalence and distributions of severely elevated low-density lipoprotein cholesterol (LDL-c) according to age, gender and clinic location among patients in the Malaysian primary care.