Search results for: Damon A. Bell

Items from 1 to 20 out of 25 results

article

Multiple acyl‐Coa dehydrogenase deficiency: an underdiagnosed disorder in adults

Ciselle Meier, Kharis Burns, Catherine Manolikos, Samantha Hodge, more

Internal Medicine Journal > 54 > 9 > 1567 - 1571

Inherited metabolic diseases, as a first presentation in adults, are an under‐recognised condition associated with significant morbidity and mortality. Diagnosis is challenging because of non‐specific clinical and biochemical findings, resemblance to common conditions such as neuropsychiatric disorders and the misconception that these disorders predominantly affect paediatric populations. We describe...

article

Pilot study of universal screening of children and child‐parent cascade testing for familial hypercholesterolaemia in Australia

Andrew C Martin, Amanda J Hooper, Richard Norman, Lan T Nguyen, more

Journal of Paediatrics and Child Health > 58 > 2 > 281 - 287

Aim Familial hypercholesterolaemia (FH) is a common and treatable cause of premature coronary artery disease. However, the majority of individuals with FH remain undiagnosed. This study investigated the feasibility, acceptability and cost‐effectiveness of screening children aged 1–2 years for FH at the time of an immunisation. Methods Children 1–2 years of age were offered screening for FH with...

article

Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians

Gerald F. Watts, David R. Sullivan, David L. Hare, Karam M. Kostner, more

Internal Medicine Journal > 51 > 5 > 769 - 779

Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease. New clinical practice recommendations are presented to assist practitioners in enhancing the care of all patients with FH. Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH. Management is under‐pinned by...

article

Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes?

Michael M. Page, Damon A. Bell, Gerald F. Watts

Clinical Genetics > 97 > 4 > 543 - 555

Familial hypercholesterolaemia (FH) is caused by pathogenic variants in LDLR, APOB or PCSK9. Impaired low‐density lipoprotein (LDL) receptor function leads to decreased LDL catabolism and premature atherosclerotic cardiovascular disease (ASCVD). Thousands of LDLR variants are known, but assignation of pathogenicity requires accurate phenotyping, family studies and assessment of LDL receptor function...

article

A genetic risk score predicts coronary artery disease in familial hypercholesterolaemia: enhancing the precision of risk assessment

Katrina L. Ellis, Amanda J. Hooper, Jing Pang, Dick C. Chan, more

Clinical Genetics > 97 > 2 > 257 - 263

Familial hypercholesterolaemia (FH) is associated with increased risk of coronary artery disease (CAD); however, risk prediction and stratification remain a challenge. Genetic risk scores (GRS) may have utility in identifying FH patients at high CAD risk. The study included 811 patients attending the lipid disorders clinic at Royal Perth Hospital with mutation‐positive (n = 251) and mutation‐negative...

article

Dyslipidaemia in adults with type 1 diabetes—when to treat?

Nick S.R. Lan, P. Gerry Fegan, Bu B. Yeap, Damon A. Bell, more

Diabetes/Metabolism Research and Reviews > 35 > 1 > n/a - n/a

Dyslipidaemia is an important modifiable risk factor contributing to the increased risk of atherosclerotic cardiovascular disease in diabetes. However, determining when to initiate statin therapy in young adults with type 1 diabetes mellitus (T1DM) can often be challenging. This is due to a relative paucity of data in this area to guide management and for developing T1DM‐specific risk engines. Current...

article

Parent–child genetic testing for familial hypercholesterolaemia in an Australian context

Jing Pang, Andrew C Martin, Timothy R Bates, Amanda J Hooper, more

Journal of Paediatrics and Child Health > 54 > 7 > 741 - 747

Aim The aim of this study was to evaluate the clinical outcome of parent–child testing for familial hypercholesterolaemia (FH) employing genetic testing and the likely additional cost of treating each child. Methods Parent–child testing for gene variants causative of FH was carried out according to Australian guidelines. The number of new cases detected, the low‐density lipoprotein (LDL)‐cholesterol...

article

The Present and the Future of Genetic Testing in Familial Hypercholesterolemia: Opportunities and Caveats

Amanda J. Hooper, John R. Burnett, Damon A. Bell, Gerald F. Watts

Current Atherosclerosis Reports > 2018 > 20 > 6 > 1-7

Purpose of Review We summarize recent advances in the understanding of genetic testing in familial hypercholesterolemia (FH), the use of expanded FH next-generation sequencing panels, and directions for future research. Recent Findings The uptake of massively parallel sequencing in research and diagnostic laboratories has enabled expanded testing for FH and its phenocopies, with the added advantage...

article

Predictors of subclinical coronary artery disease in asymptomatic patients with familial hypercholesterolaemia

Jing Pang, Arun Abraham, Timothy R. Bates, Damon A. Bell, more

Atherosclerosis > 2017 > 263 > C > e228

article

Subclinical coronary artery disease in asymptomatic patients with and without genetically confirmed familial hypercholesterolaemia

Jing Pang, Arun Abraham, Timothy R. Bates, Damon A. Bell, more

Atherosclerosis > 2017 > 263 > C > e61-e62

article

Familial combined hyperlipidemia and hyperlipoprotein(a) as phenotypic mimics of familial hypercholesterolemia: Frequencies, associations and predictions

Katrina L. Ellis, Jing Pang, Dick C. Chan, Amanda J. Hooper, more

Journal of Clinical Lipidology > 2016 > 10 > 6 > 1329-1337.e3

A significant proportion of index cases presenting with phenotypic familial hypercholesterolemia (FH) are not found to have a pathogenic mutation and may have other inherited conditions.Familial combined hyperlipidemia (FCHL) and elevated lipoprotein(a) [Lp(a)] may mimic FH, but the frequency and correlates of these disorders among mutation-negative FH patients have yet to be established.The frequency...

article

Elevated lipoprotein(a), hypertension and renal insufficiency as predictors of coronary artery disease in patients with genetically confirmed heterozygous familial hypercholesterolemia

Dick C. Chan, Jing Pang, Amanda J. Hooper, John R. Burnett, more

International Journal of Cardiology > 2015 > 201 > Complete > 633-638

Familial hypercholesterolemia (FH) is characterized by elevated LDL-cholesterol and increased risk of premature coronary artery disease (CAD). Lipoprotein(a) [Lp(a)] increases CAD in FH, although the independence of this association relative to other CAD risk factors remains unclear. In this study, we examined the association between Lp(a) and other cardiovascular risk factors and prevalent CAD in...

article

Contemporary and Novel Therapeutic Options for Hypertriglyceridemia

Damon A. Bell, Gerald F. Watts

Clinical Therapeutics > 2015 > 37 > 12 > 2732-2750

The purpose of this review was to outline the current and emerging therapeutic options for the treatment of hypertriglyceridemia, with an emphasis on emerging therapies.A systematic literature search was conducted with the use of PubMed and Embase for articles on hypertriglyceridemia, with a focus on therapeutics, pharmacology, and management. Abstracts from recent international meetings were also...

article

Frequency of familial hypercholesterolemia in patients with early-onset coronary artery disease admitted to a coronary care unit

Jing Pang, Elissa B. Poulter, Damon A. Bell, Timothy R. Bates, more

Journal of Clinical Lipidology > 2015 > 9 > 5 > 703-708

Familial hypercholesterolemia (FH) is the most common dominantly inherited cause of premature coronary artery disease (CAD). However, the diagnosis of FH in patients who have premature CAD in hospital settings is under-recognized, this also represents a missed opportunity for screening their close family members and implementing primary prevention.To investigate the point prevalence of FH in a coronary...

article

The potential role of an expert computer system to augment the opportunistic detection of individuals with familial hypercholesterolaemia from a community laboratory

Damon A. Bell, Glenn Edwards, Amanda J. Hooper, Jenny McMahon, more

Clinica Chimica Acta > 2015 > 448 > Complete > 18-21

Familial hypercholesterolaemia (FH) is the most common monogenic cause of premature atherosclerotic cardiovascular disease (CVD). However, most individuals with FH remain undiagnosed. We sought to determine if an expert system (ES) at a community laboratory could identify information relevant for estimating an individual's likelihood of FH using the Dutch Lipid Clinic Network criteria (DLCNC).An ES...

article

Systematic Detection of Familial Hypercholesterolaemia in Primary Health Care: A Community Based Prospective Study of Three Methods

Andrew B. Kirke, Rita A. Barbour, Sally Burrows, Damon A. Bell, more

Heart, Lung and Circulation > 2015 > 24 > 3 > 250-256

Familial hypercholesterolaemia (FH), a co-dominantly inherited disease of cholesterol that markedly increases risk of premature coronary artery disease (CAD), is significantly under-diagnosed. Primary health care is increasingly seen as a setting in which to increase the detection rate of index cases. We report a prospective study of three methods of case detection using pre-existing primary health...

article

Effectiveness of genetic cascade screening for familial hypercholesterolaemia using a centrally co-ordinated clinical service: An Australian experience

Damon A. Bell, Jing Pang, Sally Burrows, Timothy R. Bates, more

Atherosclerosis > 2015 > 239 > 1 > 93-100

Familial hypercholesterolaemia (FH) is a co-dominantly inherited disorder of low-density lipoprotein (LDL) catabolism, causing elevated LDL-cholesterol and premature coronary artery disease (CAD). Several guidelines recommend genetic cascade screening relatives of probands (index cases) with genetically proven FH, but experience in a clinical service setting is limited.Relatives from 100 index cases...

article

The necessity of identifying the basal glucose set-point in the IVGTT for patients with Type 2 Diabetes

Nor Azlan Othman, Paul D Docherty, Jeremy D Krebs, Damon A Bell, more

BioMedical Engineering OnLine > 2015 > 14 > 1 > 1-10

Background The model-based dynamic insulin sensitivity and secretion test (DISST) uses fasting glucose ( G ₀ ) as the basal glucose ( G _B ) concentration when assessing insulin sensitivity ( SI ). However, this model was developed in a healthy, normoglycaemic cohort. We sought to determine the suitability the...

article

Can Patients be Accurately Assessed for Familial Hypercholesterolaemia in Primary Care?

Damon A. Bell, Andrew B. Kirke, Rita Barbour, Lynda Southwell, more

Heart, Lung and Circulation > 2014 > 23 > 12 > 1153-1157

Familial Hypercholesterolaemia (FH) is the most prevalent monogenic condition causing premature coronary artery disease, although the majority of individuals remain undiagnosed. We sought to investigate whether individuals with FH could be accurately identified in primary care.The Dutch Lipid Clinic Network Criteria scores (DLCNCS) assessed by general practitioners (GPs) were compared with DLCNCS...

article

Detecting familial hypercholesterolaemia in the community: Impact of a telephone call from a chemical pathologist to the requesting general practitioner

Damon A. Bell, Amanda J. Hooper, Glenn Edwards, Lynda Southwell, more

Atherosclerosis > 2014 > 234 > 2 > 469-472

To determine whether a telephone call from a chemical pathologist to the requesting general practitioner (GP) of individuals at high risk of familial hypercholesterolaemia (FH) increases specialist referral and detection of FH.Individuals with an LDL-cholesterol ≥6.5 mmol/L without secondary causes were identified from a community laboratory; 100 cases and 96 historical controls.All laboratory reports...

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INFONA - science communication portal

Search results for: Damon A. Bell

Multiple acyl‐Coa dehydrogenase deficiency: an underdiagnosed disorder in adults

Pilot study of universal screening of children and child‐parent cascade testing for familial hypercholesterolaemia in Australia

Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians

Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes?

A genetic risk score predicts coronary artery disease in familial hypercholesterolaemia: enhancing the precision of risk assessment

Dyslipidaemia in adults with type 1 diabetes—when to treat?

Parent–child genetic testing for familial hypercholesterolaemia in an Australian context

The Present and the Future of Genetic Testing in Familial Hypercholesterolemia: Opportunities and Caveats

Predictors of subclinical coronary artery disease in asymptomatic patients with familial hypercholesterolaemia

Subclinical coronary artery disease in asymptomatic patients with and without genetically confirmed familial hypercholesterolaemia

Familial combined hyperlipidemia and hyperlipoprotein(a) as phenotypic mimics of familial hypercholesterolemia: Frequencies, associations and predictions

Elevated lipoprotein(a), hypertension and renal insufficiency as predictors of coronary artery disease in patients with genetically confirmed heterozygous familial hypercholesterolemia

Contemporary and Novel Therapeutic Options for Hypertriglyceridemia

Frequency of familial hypercholesterolemia in patients with early-onset coronary artery disease admitted to a coronary care unit

The potential role of an expert computer system to augment the opportunistic detection of individuals with familial hypercholesterolaemia from a community laboratory

Systematic Detection of Familial Hypercholesterolaemia in Primary Health Care: A Community Based Prospective Study of Three Methods

Effectiveness of genetic cascade screening for familial hypercholesterolaemia using a centrally co-ordinated clinical service: An Australian experience

The necessity of identifying the basal glucose set-point in the IVGTT for patients with Type 2 Diabetes

Can Patients be Accurately Assessed for Familial Hypercholesterolaemia in Primary Care?

Detecting familial hypercholesterolaemia in the community: Impact of a telephone call from a chemical pathologist to the requesting general practitioner

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