Skip to main content

Research Repository

Advanced Search

All Outputs (15)

Identifying, managing and supporting patients with a rare disease (2020)
Journal Article
Evans, W., McKay, L., & Qureshi, N. (2021). Identifying, managing and supporting patients with a rare disease. InnovAiT, 14(2), 92-99. https://doi.org/10.1177/1755738020974411

Rare diseases (RDs) are defined as diseases that affect less than 1 in 2000 people, 71.9% are genetic and 69.9% have symptom onset in childhood. There are an estimated 8000 rare diseases, and although individually rare, collectively they are common,... Read More about Identifying, managing and supporting patients with a rare disease.

Evaluating a clinical tool (FAMCAT) for identifying familial hypercholesterolaemia in primary care: a retrospective cohort study (2020)
Journal Article
Akyea, R. K., Qureshi, N., Kai, J., de Lusignan, S., Sherlock, J., McGee, C., & Weng, S. (2020). Evaluating a clinical tool (FAMCAT) for identifying familial hypercholesterolaemia in primary care: a retrospective cohort study. BJGP Open, 4(5), 1-10. https://doi.org/10.3399/bjgpopen20X101114

Background: Familial hypercholesterolaemia (FH) is an inherited lipid disorder causing premature heart disease, which is severely underdiagnosed. Improving the identification of people with FH in primary care settings would help to reduce avoidable h... Read More about Evaluating a clinical tool (FAMCAT) for identifying familial hypercholesterolaemia in primary care: a retrospective cohort study.

Performance and clinical utility of supervised machine-learning approaches in detecting familial hypercholesterolaemia in primary care (2020)
Journal Article
Akyea, R. K., Qureshi, N., Kai, J., & Weng, S. F. (2020). Performance and clinical utility of supervised machine-learning approaches in detecting familial hypercholesterolaemia in primary care. npj Digital Medicine, 3(1), Article 142. https://doi.org/10.1038/s41746-020-00349-5

Familial hypercholesterolaemia (FH) is a common inherited disorder, causing lifelong elevated low-density lipoprotein cholesterol (LDL-C). Most individuals with FH remain undiagnosed, precluding opportunities to prevent premature heart disease and de... Read More about Performance and clinical utility of supervised machine-learning approaches in detecting familial hypercholesterolaemia in primary care.

Sex differences in cardiovascular morbidity associated with familial hypercholesterolaemia: A retrospective cohort study of the UK Simon Broome register linked to national hospital records (2020)
Journal Article
Iyen, B., Qureshi, N., Weng, S., Roderick, P., Kai, J., Capps, N., …Humphries, S. E. (2020). Sex differences in cardiovascular morbidity associated with familial hypercholesterolaemia: A retrospective cohort study of the UK Simon Broome register linked to national hospital records. Atherosclerosis, 315, 131-137. https://doi.org/10.1016/j.atherosclerosis.2020.10.895

Background and aims: The UK Simon Broome (SB) familial hypercholesterolaemia (FH) register previously reported 3-fold higher standardised mortality ratio for cardiovascular disease (CVD) in women compared to men from 2009 to 2015. Here we examined se... Read More about Sex differences in cardiovascular morbidity associated with familial hypercholesterolaemia: A retrospective cohort study of the UK Simon Broome register linked to national hospital records.

Specialist recommendation for chemoprevention medications in patients at familial risk of breast cancer: a cross-sectional survey in England (2020)
Journal Article
Lee, S. I., Curtis, H., Qureshi, S., Dutton, B., & Qureshi, N. (2021). Specialist recommendation for chemoprevention medications in patients at familial risk of breast cancer: a cross-sectional survey in England. Journal of Community Genetics, 12(1), 111–120. https://doi.org/10.1007/s12687-020-00490-4

In England, the National Institute for Health and Care Excellence guideline for familial breast cancer recommends chemoprevention for women at high and moderate familial risk of breast cancer. However, prescribing of chemoprevention has not improved... Read More about Specialist recommendation for chemoprevention medications in patients at familial risk of breast cancer: a cross-sectional survey in England.

Putting the voices and insights of migrants and diverse ethnic groups at the centre of our response to COVID-19 (2020)
Journal Article
Gogoi, M., Armitage, R., Brown, G., Ryan, B., Eborall, H., Qureshi, N., …Nellums, L. B. (2021). Putting the voices and insights of migrants and diverse ethnic groups at the centre of our response to COVID-19. Public Health, 197, e1-e3. https://doi.org/10.1016/j.puhe.2020.09.019

There is increasing evidence of inequities in COVID-19 infection, disease severity, and mortality across diverse ethnic groups. Despite calls to ensure ethnicity is integral to COVID-19 research, opportunities have been missed to engage with individ... Read More about Putting the voices and insights of migrants and diverse ethnic groups at the centre of our response to COVID-19.

Managing hyperlipidaemia in patients with COVID-19 and during its pandemic: An expert panel position statement from HEART UK (2020)
Journal Article
Iqbal, Z., Ho, J. H., Adam, S., France, M., Syed, A., Neely, D., …Soran, H. (2020). Managing hyperlipidaemia in patients with COVID-19 and during its pandemic: An expert panel position statement from HEART UK. Atherosclerosis, 313, 126-136. https://doi.org/10.1016/j.atherosclerosis.2020.09.008

The emergence of the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) which causes Coronavirus Disease 2019 (COVID-19) has resulted in a pandemic. SARS-CoV-2 is highly contagious and its severity highly variable. The fatality rate i... Read More about Managing hyperlipidaemia in patients with COVID-19 and during its pandemic: An expert panel position statement from HEART UK.

Predicting major adverse cardiovascular events for secondary prevention: protocol for a systematic review and meta-analysis of risk prediction models (2020)
Journal Article
Akyea, R. K., Leonardi-Bee, J., Asselbergs, F. W., Patel, R. S., Durrington, P., Wierzbicki, A. S., …Weng, S. F. (2020). Predicting major adverse cardiovascular events for secondary prevention: protocol for a systematic review and meta-analysis of risk prediction models. BMJ Open, 10(7), Article e034564. https://doi.org/10.1136/bmjopen-2019-034564

Introduction: Cardiovascular disease (CVD) is the leading cause of morbidity and mortality globally. With advances in early diagnosis and treatment of CVD and increasing life expectancy, more people are surviving initial CVD events. However, models t... Read More about Predicting major adverse cardiovascular events for secondary prevention: protocol for a systematic review and meta-analysis of risk prediction models.

Is family history still underutilised? Exploring the views and experiences of primary care doctors in Malaysia (2020)
Journal Article
Hussein, N., Malik, T. F. A., Salim, H., Samad, A., Qureshi, N., & Ng, C. J. (2020). Is family history still underutilised? Exploring the views and experiences of primary care doctors in Malaysia. Journal of Community Genetics, 11(4), 413-420. https://doi.org/10.1007/s12687-020-00476-2

Family history has long been recognised as a non-invasive and inexpensive tool to identify individuals at risk of genetic conditions. Even in the era of evolving genetic and genomic technology, the role of family history in predicting individual risk... Read More about Is family history still underutilised? Exploring the views and experiences of primary care doctors in Malaysia.

What are the benefits and harms of risk stratified screening as part of the NHS breast screening Programme? Study protocol for a multi-site non-randomised comparison of BC-predict versus usual screening (NCT04359420) (2020)
Journal Article
French, D. P., Astley, S., Brentnall, A. R., Cuzick, J., Dobrashian, R., Duffy, S. W., …Evans, D. G. (2020). What are the benefits and harms of risk stratified screening as part of the NHS breast screening Programme? Study protocol for a multi-site non-randomised comparison of BC-predict versus usual screening (NCT04359420). BMC Cancer, 20, Article 570. https://doi.org/10.1186/s12885-020-07054-2

Background In principle, risk-stratification as a routine part of the NHS Breast Screening Programme (NHSBSP) should produce a better balance of benefits and harms. The main benefit is the offer of NICE-approved more frequent screening and/ or chemo... Read More about What are the benefits and harms of risk stratified screening as part of the NHS breast screening Programme? Study protocol for a multi-site non-randomised comparison of BC-predict versus usual screening (NCT04359420).

Improving primary care identification of familial breast cancer risk using proactive invitation and decision support (2020)
Journal Article
Qureshi, N., Dutton, B., Weng, S., Sheehan, C., Chorley, W., Robertson, J. F., …Kai, J. (2021). Improving primary care identification of familial breast cancer risk using proactive invitation and decision support. Familial Cancer, 20(1), 13-21. https://doi.org/10.1007/s10689-020-00188-z

Family history of breast cancer is a key risk factor, accounting for up to 10% of cancers. We evaluated the proactive assessment of familial breast cancer (FBC) risk in primary care. Eligible women (30 to 60 years) were recruited from eight English g... Read More about Improving primary care identification of familial breast cancer risk using proactive invitation and decision support.

The introduction of risk stratified screening into the NHS Breast Screening Programme: Views from British-Pakistani women (2020)
Journal Article
Woof, V. G., Ruane, H., French, D. P., Ulph, F., Qureshi, N., Khan, N., …Donnelly, L. S. (2020). The introduction of risk stratified screening into the NHS Breast Screening Programme: Views from British-Pakistani women. BMC Cancer, 20, Article 452. https://doi.org/10.1186/s12885-020-06959-2

Background: UK national guidelines suggest women at high-risk of breast cancer should be offered more frequent screening or preventative medications. Currently, only 1 in 6 high-risk women are identified. One route to identify more high-risk women is... Read More about The introduction of risk stratified screening into the NHS Breast Screening Programme: Views from British-Pakistani women.

Development and validation of the DIabetes Severity SCOre (DISSCO) in 139 626 individuals with type 2 diabetes: a retrospective cohort study (2020)
Journal Article
Zghebi, S. S., Mamas, M. A., Ashcroft, D. M., Salisbury, C., Mallen, C. D., Chew-Graham, C. A., …Kontopantelis, E. (2020). Development and validation of the DIabetes Severity SCOre (DISSCO) in 139 626 individuals with type 2 diabetes: a retrospective cohort study. BMJ Open Diabetes Research and Care, 8(1), Article e000962. https://doi.org/10.1136/bmjdrc-2019-000962

Objective: Clinically-applicable diabetes severity measures are lacking, with no previous studies compared their predictive value to HbA1c. We developed and validated a type 2 diabetes severity score (DISSCO) and evaluated its association with risks... Read More about Development and validation of the DIabetes Severity SCOre (DISSCO) in 139 626 individuals with type 2 diabetes: a retrospective cohort study.

How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners (2020)
Journal Article
R. H. Evans, W., Tranter, J., Rafi, I., Hayward, J., & Qureshi, N. (2020). How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners. Journal of Community Genetics, 11(3), 377–386. https://doi.org/10.1007/s12687-020-00457-5

Genomic technologies are having an increasing impact across medicine, including primary care. To enable their wider adoption and realise their potential, education of primary healthcare practitioners will be required. To enable the development of suc... Read More about How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners.

Characteristics predicting recommendation for familial breast cancer referral in a cohort of women from primary care (2020)
Journal Article
Lee, S. I., Kai, J., Qureshi, N., Dutton, B., & Weng, S. (2020). Characteristics predicting recommendation for familial breast cancer referral in a cohort of women from primary care. Journal of Community Genetics, 11, 331–338. https://doi.org/10.1007/s12687-020-00452-w

© 2020, The Author(s). Family history of breast and related cancers can indicate increased breast cancer (BC) risk. In national familial breast cancer (FBC) guidelines, the risk is stratified to guide referral decisions. We aimed to identify characte... Read More about Characteristics predicting recommendation for familial breast cancer referral in a cohort of women from primary care.