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All Outputs (11)

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.

Efficacy and safety of statins, ezetimibe and statins-ezetimibe therapies for children and adolescents with heterozygous familial hypercholesterolaemia: Systematic review, pairwise and network meta-analyses of randomised controlled trials (2024)
Journal Article
Llewellyn, A., Simmonds, M., Marshall, D., Harden, M., Woods, B., Humphries, S. E., Ramaswami, U., Priestley-Barnham, L., Fisher, M., Tata, L. J., & Qureshi, N. (2024). Efficacy and safety of statins, ezetimibe and statins-ezetimibe therapies for children and adolescents with heterozygous familial hypercholesterolaemia: Systematic review, pairwise and network meta-analyses of randomised controlled trials. Atherosclerosis, Article 118598. https://doi.org/10.1016/j.atherosclerosis.2024.118598

Background and aims
Statins, ezetimibe and statins-ezetimibe combination therapy are recommended lipid-lowering therapies (LLTs) in children with heterozygous familial hypercholesterolaemia (HeFH). However, their relative effectiveness is not well u... Read More about Efficacy and safety of statins, ezetimibe and statins-ezetimibe therapies for children and adolescents with heterozygous familial hypercholesterolaemia: Systematic review, pairwise and network meta-analyses of randomised controlled trials.

Challenges and opportunities for identifying people with Familial hypercholesterolaemia in the UK: Evidence from the National FH PASS database (2024)
Journal Article
Cox, E., Faria, R., Saramago, P., Haralambos, K., Watson, M., Humphries, S. E., Qureshi, N., & Woods, B. (2024). Challenges and opportunities for identifying people with Familial hypercholesterolaemia in the UK: Evidence from the National FH PASS database. Journal of Clinical Lipidology, https://doi.org/10.1016/j.jacl.2024.08.007

Background
Familial Hypercholesterolaemia (FH) is a monogenic disorder that causes high levels of low-density lipoprotein (LDL) cholesterol. Cascade testing, where relatives of known individuals with FH (‘index’) are genetically tested, is effective... Read More about Challenges and opportunities for identifying people with Familial hypercholesterolaemia in the UK: Evidence from the National FH PASS database.

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.

Attitudes and Preferences Towards Screening for Dementia with a Focus on Ethnic Minority and Low Socio-Economic Groups: A Systematic Review of Research Studies Written in the English Language (2024)
Journal Article
Brar, M., Mc Ardle, R., Hagan, A., Al-Oraibi, A., Hanjari, M., Stephan, B., Brayne, C., Lafortune, L., Bains, M., Qureshi, N., & Robinson, L. (2024). Attitudes and Preferences Towards Screening for Dementia with a Focus on Ethnic Minority and Low Socio-Economic Groups: A Systematic Review of Research Studies Written in the English Language. Journal of Alzheimer's Disease, 100(4), 1315-1331. https://doi.org/10.3233/JAD-240315

Background:
Increased understanding of dementia risk-reduction and early detection of Alzheimer’s disease and related disorders has spurred interest in the identification of risks for dementia, underlying putative biologies, or dementia itself. Impl... Read More about Attitudes and Preferences Towards Screening for Dementia with a Focus on Ethnic Minority and Low Socio-Economic Groups: A Systematic Review of Research Studies Written in the English Language.

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.

Precision Medicine—Are We There Yet? A Narrative Review of Precision Medicine’s Applicability in Primary Care (2024)
Journal Article
Evans, W., Meslin, E. M., Kai, J., & Qureshi, N. (2024). Precision Medicine—Are We There Yet? A Narrative Review of Precision Medicine’s Applicability in Primary Care. Journal of Personalized Medicine, 14(4), Article 418. https://doi.org/10.3390/jpm14040418

Precision medicine (PM), also termed stratified, individualised, targeted, or personalised medicine, embraces a rapidly expanding area of research, knowledge, and practice. It brings together two emerging health technologies to deliver better individ... Read More about Precision Medicine—Are We There Yet? A Narrative Review of Precision Medicine’s Applicability in Primary Care.

A case report of heterozygous familial hypercholesterolaemia with LDLR gene mutation complicated by premature coronary artery disease detected in primary care (2024)
Journal Article
Abdul-Halim, M. A. Z., Abdul-Hamid, H., Baharudin, N., Mohamed-Yassin, M., Kasim, S. S., Nawawi, H., …Ramli, A. S. (2024). A case report of heterozygous familial hypercholesterolaemia with LDLR gene mutation complicated by premature coronary artery disease detected in primary care. European Heart Journal: Case Reports, 8(2), Article ytae039. https://doi.org/10.1093/ehjcr/ytae039

Background: Familial hypercholesterolaemia (FH) is an autosomal dominant genetic condition predominantly caused by the low-density lipoprotein receptor (LDLR) gene mutation. Case summary: This is the case of a 54-year-old Malay woman with genetically... Read More about A case report of heterozygous familial hypercholesterolaemia with LDLR gene mutation complicated by premature coronary artery disease detected in primary care.

Implementing HLA-B*58:01 testing prior to allopurinol initiation in Malaysian primary care setting: A qualitative study from doctors’ and patients’ perspective (2024)
Journal Article
Ng, W. L., Hussein, N., Ng, C. J., Qureshi, N., Lee, Y. K., Kwan, Z., …Azmi, S. U. F. (2024). Implementing HLA-B*58:01 testing prior to allopurinol initiation in Malaysian primary care setting: A qualitative study from doctors’ and patients’ perspective. PLoS ONE, 19(1), e0296498. https://doi.org/10.1371/journal.pone.0296498

Introduction Allopurinol, the first-line treatment for chronic gout, is a common causative drug for severe cutaneous adverse reactions (SCAR). HLA-B*58:01 allele was strongly associated with allopurinol-induced SCAR in Asian countries such as Taiwan,... Read More about Implementing HLA-B*58:01 testing prior to allopurinol initiation in Malaysian primary care setting: A qualitative study from doctors’ and patients’ perspective.