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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.

Age and sex differences in LDL cholesterol distribution in adults in Malaysia: A cross-sectional study (2010 -2021) (2023)
Journal Article
Chalitsios, C. V., Akyea, R. K., Abdul-Hamid, H., Leonardi-Bee, J., Kanchau, J. D., Kamal, A., …Qureshi, N. (2023). Age and sex differences in LDL cholesterol distribution in adults in Malaysia: A cross-sectional study (2010 -2021). International Journal of General Medicine, 2023(16), 5885—5888. https://doi.org/10.2147/IJGM.S423091

Cardiovascular disease (CVD) is the leading cause of death worldwide. Hypercholesterolaemia, especially higher low-density lipoprotein cholesterol (LDL-c), has been recognised as one of the major key risk factors for CVD. Lipid lowering treatments, s... Read More about Age and sex differences in LDL cholesterol distribution in adults in Malaysia: A cross-sectional study (2010 -2021).

Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis (2023)
Journal Article
Qureshi, N., Woods, B., Neves de Faria, R., Saramago Goncalves, P., Cox, E., Leonardi Bee, J., …Kai, J. (2023). Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis. Health Technology Assessment, 27(16), https://doi.org/10.3310/CTMD0148

Background
Cascade testing the relatives of people with familial hypercholesterolaemia is an efficient approach to identifying familial hypercholesterolaemia. The cascade-testing protocol starts with identifying an index patient with familial hyperc... Read More about Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis.

Obesity, metabolic health and clinical outcomes after incident cardiovascular disease: A nationwide population-based cohort study (2023)
Journal Article
Akyea, R. K., Ntaios, G., & Doehner, W. (2023). Obesity, metabolic health and clinical outcomes after incident cardiovascular disease: A nationwide population-based cohort study. Journal of Cachexia, Sarcopenia and Muscle, 14(6), 2653-2662. https://doi.org/10.1002/jcsm.13340

Background
The association between metabolic syndrome and increased cardiovascular disease (CVD) risk is well-established. However, in patients with incident CVD, the relationship between obesity, metabolic health, and subsequent CVD and mortality o... Read More about Obesity, metabolic health and clinical outcomes after incident cardiovascular disease: A nationwide population-based cohort study.

A population-based study exploring phenotypic clusters and clinical outcomes in stroke using unsupervised machine learning approach (2023)
Journal Article
Akyea, R. K., Ntaios, G., Kontopantelis, E., Georgiopoulos, G., Soria, D., Asselbergs, F. W., …Qureshi, N. (2023). A population-based study exploring phenotypic clusters and clinical outcomes in stroke using unsupervised machine learning approach. PLOS Digital Health, 2(9), Article e0000334. https://doi.org/10.1371/journal.pdig.0000334

Individuals developing stroke have varying clinical characteristics, demographic, and biochemical profiles. This heterogeneity in phenotypic characteristics can impact on cardiovascular disease (CVD) morbidity and mortality outcomes. This study uses... Read More about A population-based study exploring phenotypic clusters and clinical outcomes in stroke using unsupervised machine learning approach.

Association between pain intensity and depressive symptoms in community-dwelling adults: longitudinal findings from the Survey of Health, Ageing and Retirement in Europe (SHARE) (2023)
Journal Article
Ogliari, G., Ryg, J., Andersen-Ranberg, K., Scheel-Hincke, L. L., Collins, J. T., Cowley, A., …Masud, T. (2023). Association between pain intensity and depressive symptoms in community-dwelling adults: longitudinal findings from the Survey of Health, Ageing and Retirement in Europe (SHARE). European Geriatric Medicine, 14(5), 1111-1124. https://doi.org/10.1007/s41999-023-00835-5

Purpose
To investigate the longitudinal associations between pain and depressive symptoms in adults.

Methods
Prospective cohort study on data from 28,515 community-dwelling adults ≥ 50 years, free from depression at baseline (Wave 5), with follo... Read More about Association between pain intensity and depressive symptoms in community-dwelling adults: longitudinal findings from the Survey of Health, Ageing and Retirement in Europe (SHARE).

Frequency and impact of medication reviews for people aged 65 years or above in UK primary care: an observational study using electronic health records (2023)
Journal Article
Joseph, R. M., Knaggs, R. D., Coupland, C. A., Taylor, A., Vinogradova, Y., Butler, D., …Jack, R. H. (2023). Frequency and impact of medication reviews for people aged 65 years or above in UK primary care: an observational study using electronic health records. BMC Geriatrics, 23(1), Article 435. https://doi.org/10.1186/s12877-023-04143-2

Background Medication reviews in primary care provide an opportunity to review and discuss the safety and appropriateness of a person’s medicines. However, there is limited evidence about access to and the impact of routine medication reviews for old... Read More about Frequency and impact of medication reviews for people aged 65 years or above in UK primary care: an observational study using electronic health records.

Reducing Premature Coronary Artery Disease in Malaysia by Early Identification of Familial Hypercholesterolemia Using the Familial Hypercholesterolemia Case Ascertainment Tool (FAMCAT): Protocol for a Mixed Methods Evaluation Study (2023)
Journal Article
Ramli, A. S., Qureshi, N., Abdul-Hamid, H., Kamal, A., Kanchau, J. D., Shahuri, N. S., …Nawawi, H. (2023). Reducing Premature Coronary Artery Disease in Malaysia by Early Identification of Familial Hypercholesterolemia Using the Familial Hypercholesterolemia Case Ascertainment Tool (FAMCAT): Protocol for a Mixed Methods Evaluation Study. JMIR Research Protocols, 12, Article e47911. https://doi.org/10.2196/47911

Background: Familial hypercholesterolemia (FH) is predominantly caused by mutations in the 4 FH candidate genes (FHCGs), namely, low-density lipoprotein receptor (LDLR), apolipoprotein B-100 (APOB-100), proprotein convertase subtilisin/kexin type 9 (... Read More about Reducing Premature Coronary Artery Disease in Malaysia by Early Identification of Familial Hypercholesterolemia Using the Familial Hypercholesterolemia Case Ascertainment Tool (FAMCAT): Protocol for a Mixed Methods Evaluation Study.

How does cholesterol burden change the case for investing in familial hypercholesterolaemia? A cost-effectiveness analysis (2022)
Journal Article
Faria, R., Saramago, P., Cox, E., Weng, S., Iyen, B., Akyea, R. K., …Woods, B. (2023). How does cholesterol burden change the case for investing in familial hypercholesterolaemia? A cost-effectiveness analysis. Atherosclerosis, 367, 40-47. https://doi.org/10.1016/j.atherosclerosis.2022.12.001

Background and aims
This study aimed to ascertain how the long-term benefits and costs of diagnosis and treatment of familial hypercholesterolaemia (FH) vary by prognostic factors and ‘cholesterol burden’, which is the effect of long-term exposure t... Read More about How does cholesterol burden change the case for investing in familial hypercholesterolaemia? A cost-effectiveness analysis.

Cardiovascular outcomes and mortality after incident ischaemic stroke in patients with a recent cancer history (2022)
Journal Article
Akyea, R. K., Iyen, B., Georgiopoulos, G., Kai, J., Qureshi, N., & Ntaios, G. (2023). Cardiovascular outcomes and mortality after incident ischaemic stroke in patients with a recent cancer history. European Journal of Internal Medicine, 109, 50-57. https://doi.org/10.1016/j.ejim.2022.12.006

Background: Up to 10% of patients with ischaemic stroke have comorbid cancer and stroke in these patients is thought to have a poor short-term prognosis. There is little known about the long-term cardiovascular morbidity and mortality outcomes after... Read More about Cardiovascular outcomes and mortality after incident ischaemic stroke in patients with a recent cancer history.

Electronic health record-based facilitation of familial hypercholesterolaemia detection sensitivity of different algorithms in genetically confirmed patients (2022)
Journal Article
Mohammadnia, N., Akyea, R. K., Qureshi, N., Bax, W. A., & Cornel, J. H. (2022). Electronic health record-based facilitation of familial hypercholesterolaemia detection sensitivity of different algorithms in genetically confirmed patients. European Heart Journal – Digital Health, 3(4), 578-586. https://doi.org/10.1093/ehjdh/ztac059

Aims: Familial hypercholesterolaemia (FH) is a disorder of LDL cholesterol clearance, resulting in increased risk of cardiovascular disease. Recently, we developed a Dutch Lipid Clinic Network (DLCN) criteria-based algorithm to facilitate FH detectio... Read More about Electronic health record-based facilitation of familial hypercholesterolaemia detection sensitivity of different algorithms in genetically confirmed patients.

Understanding social care need through primary care big data: a rapid scoping review (2022)
Journal Article
Simpson, G., Kaluvu, L. M., Stokes, J., Roderick, P., Chapman, A., Akyea, R. K., …Dambha-Miller, H. (2022). Understanding social care need through primary care big data: a rapid scoping review. BJGP Open, 6(4), Article BJGPO.2022.0016. https://doi.org/10.3399/BJGPO.2022.0016

Background: A more comprehensive understanding and measurement of adult social care need could contribute to efforts to develop more effective, holistic personalised care, particularly for those with multiple long-term conditions (MLTC). Progress in... Read More about Understanding social care need through primary care big data: a rapid scoping review.

Identifying Patients with Bicuspid Aortic Valve Disease in UK Primary Care: A Case–Control Study and Prediction Model (2022)
Journal Article
Evans, W., Akyea, R. K., Weng, S., Kai, J., & Qureshi, N. (2022). Identifying Patients with Bicuspid Aortic Valve Disease in UK Primary Care: A Case–Control Study and Prediction Model. Journal of Personalized Medicine, 12(8), Article 1290. https://doi.org/10.3390/jpm12081290

Bicuspid aortic valve disease (BAV) is the most common congenital heart condition, and early detection can improve outcomes for patients. In this case–control study, patients with a diagnosis of BAV were identified from their electronic primary-care... Read More about Identifying Patients with Bicuspid Aortic Valve Disease in UK Primary Care: A Case–Control Study and Prediction Model.

Comparison of Risk of Serious Cardiovascular Events after Hemorrhagic versus Ischemic Stroke: A Population-Based Study (2022)
Journal Article
Akyea, R. K., Georgiopoulos, G., Iyen, B., Kai, J., Qureshi, N., & Ntaios, G. (2022). Comparison of Risk of Serious Cardiovascular Events after Hemorrhagic versus Ischemic Stroke: A Population-Based Study. Thrombosis and Haemostasis, 122(11), 1921-1931. https://doi.org/10.1055/a-1873-9092

Background Patients with ischemic stroke are considered a very high risk population for subsequent cardiovascular events and guidelines recommend intensive preventive strategies. However, there is no clear recommendation that patients with hemorrhagi... Read More about Comparison of Risk of Serious Cardiovascular Events after Hemorrhagic versus Ischemic Stroke: A Population-Based Study.

Development and Validation of Population Clusters for Integrating Health and Social Care: Protocol for a Mixed Methods Study in Multiple Long-Term Conditions (Cluster-Artificial Intelligence for Multiple Long-Term Conditions) (2022)
Journal Article
Dambha-Miller, H., Simpson, G., Akyea, R. K., Hounkpatin, H., Morrison, L., Gibson, J., …Farmer, A. (2022). Development and Validation of Population Clusters for Integrating Health and Social Care: Protocol for a Mixed Methods Study in Multiple Long-Term Conditions (Cluster-Artificial Intelligence for Multiple Long-Term Conditions). JMIR Research Protocols, 11(6), Article e34405. https://doi.org/10.2196/34405

Background: Multiple long-term health conditions (multimorbidity) (MLTC-M) are increasingly prevalent and associated with high rates of morbidity, mortality, and health care expenditure. Strategies to address this have primarily focused on the biolog... Read More about Development and Validation of Population Clusters for Integrating Health and Social Care: Protocol for a Mixed Methods Study in Multiple Long-Term Conditions (Cluster-Artificial Intelligence for Multiple Long-Term Conditions).

Cost-Effectiveness of Screening Algorithms for Familial Hypercholesterolaemia in Primary Care (2022)
Journal Article
Jones, M., Akyea, R. K., Payne, K., Humphries, S. E., Abdul-Hamid, H., Weng, S., & Qureshi, N. (2022). Cost-Effectiveness of Screening Algorithms for Familial Hypercholesterolaemia in Primary Care. Journal of Personalized Medicine, 12(3), Article 330. https://doi.org/10.3390/jpm12030330

Although familial hypercholesterolemia (FH) screening within primary care is considered cost-effective, which screening approach is cost-effective has not been established. This study determines the cost-effectiveness of six case-finding strategies f... Read More about Cost-Effectiveness of Screening Algorithms for Familial Hypercholesterolaemia in Primary Care.