Survival in homozygous familial hypercholesterolaemia is determined by the on-treatment level of serum cholesterol.

Aims: Homozygous familial hypercholesterolaemia (FH) is a rare inherited disorder characterized by extreme hypercholesterolaemia from birth, accelerated atherosclerosis, and premature death. Many forms of lipid-lowering therapies have been used in the past, but definitive evidence of benefit has been lacking. We therefore undertook a retrospective survey of lipid levels and clinical outcomes of FH homozygotes treated with a combination of lipid-lowering measures between 1990 and 2014 in South Africa and the UK.

HEART UK statement on the management of homozygous familial hypercholesterolaemia in the United Kingdom.

This consensus statement addresses the current three main modalities of treatment of homozygous familial hypercholesterolaemia (HoFH): pharmacotherapy, lipoprotein (Lp) apheresis and liver transplantation. HoFH may cause very premature atheromatous arterial disease and death, despite treatment with Lp apheresis combined with statin, ezetimibe and bile acid sequestrants. Two new classes of drug, effective in lowering cholesterol in HoFH, are now licensed in the United Kingdom.

Improved cardiovascular outcomes following temporal advances in lipid-lowering therapy in a genetically-characterised cohort of familial hypercholesterolaemia homozygotes.

Background And Aims: There is a paucity of data concerning the influence of lipid-lowering therapy on cardiovascular (CV) outcomes in patients with homozygous familial hypercholesterolaemia (FH). To redress this a retrospective analysis was undertaken of the demographic features, lipid levels, low density lipoprotein receptor and Autosomal Recessive Hypercholesterolaemia gene mutations, CV outcomes and vital status of 44 FH homozygotes referred to a single centre in the UK between 1964 and 2014.

Methods: Data were obtained from past publications, case records and death certificates.

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Background: Familial hypercholesterolaemia (FH) is an autosomal dominant disease of lipid metabolism, which leads to early coronary heart disease. Mutations in LDLR, APOB and PCSK9 can be detected in 80% of definite FH (DFH) patients. This study aimed to identify novel FH-causing genetic variants in patients with no detectable mutation.

Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.

Patients with autosomal dominant hypercholesterolemia (ADH) have a high risk of developing cardiovascular disease that can be effectively treated using statin drugs. Molecular diagnosis and family cascade screening is recommended for early identification of individuals at risk, but up to 40% of families have no mutation detected in known genes. This study combined linkage analysis and exome sequencing to identify a novel variant in exon 3 of APOB (Arg50Trp).

Beginning the recovery journey in acute psychiatric care: using concepts from Orem's Self-Care Deficit Nursing Theory.

A national agenda has been established for mental health systems to move toward a recovery model of care. Recovery principles are embedded in the foundations of nursing science and practice. Orem's Self-Care Deficit Nursing Theory (SCDNT) is in alignment with the ideals of recovery and can provide a structure for changing cultures on inpatient psychiatric units.

Normal levels of inflammatory markers in treated patients with familial hypercholesterolaemia: a cross-sectional study.

Objective: To assess the relationship of levels of inflammatory risk markers to presence of clinical coronary artery disease (CAD) in patients with treated heterozygous familial hypercholesterolaemia.

Design: A cross-sectional study of patients on the Simon Broome Familial Hyperlipidaemia Register.

Setting: Six hospital outpatient clinics in the UK.

Gender differences in the roles and functions of inpatient psychiatric nurses.

This study explored the difference between male and female psychiatric nurses' job performance and job satisfaction levels on an acute care inpatient unit. The amount of time male (n = 28) and female (n = 45) nurses spent on 10 specific functions and roles during a shift were observed and recorded. The nurses also self-rated the amount of time they spent on these specific functions and roles.

The role of the inpatient psychiatric nurse and its effect on job satisfaction.

This study recorded the amount of time 73 nurses working on inpatient psychiatric units spent on specific functions during a shift. The nurses also rated the amount of time they actually spent on the functions versus the amount of time they ideally would like to spend. Nurses spent only 2.

Identification and management of familial hypercholesterolaemia: what does it mean to primary care?

Familial hypercholesterolaemia is one of the most common dominantly inherited disorders to be identified in primary care, leading to raised serum cholesterol evident from the first year of life. Around 1 in 500 people are affected by this condition, but less than 15% of these are currently attending lipid clinics, suggesting that the vast majority are unrecognised in general practice. The recently released National Institute for Health and Clinical Excellence evidence-based guideline on the identification and management of familial hypercholesterolaemia provides an opportunity to bridge this gap.

Improving recruitment and retention rates in preventive longitudinal research with adolescent mothers.

Problem: In order to understand the risks and protective factors associated with poor health outcomes in adolescent mothers and their children, nurses need to design rigorous longitudinal research. Attrition of subjects can contribute to sampling error. Recruitment and retention efforts need to be optimized.

The clinical nurse leader: helping psychiatric mental health nurses transform their practice.

The national movement to transform the health care delivery systems must include a focus on mental health treatment. To address similar deficits across other practice domains, the Clinical Nurse Leader (CNL) role has been created. The CNL is a master's degree that prepares a nurse to use a systems perspective to improve outcomes for a cohort of patient, deliver care based on best practices, and coordinate care in a multidisciplinary team.

Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study.

Aims: To examine the changes in coronary, all-cause, and cancer mortality in patients with heterozygous familial hypercholesterolaemia (FH) before and after lipid-lowering therapy with statins.

Methods And Results: A total of 3382 patients (1650 men) aged <80 years were recruited from 21 lipid clinics in the United Kingdom and followed prospectively between 1980 and 2006 for 46 580 person-years. There were 370 deaths, including 190 from coronary heart disease (CHD) and 90 from cancer.

Pioglitazone improves myocardial blood flow and glucose utilization in nondiabetic patients with combined hyperlipidemia: a randomized, double-blind, placebo-controlled study.

Objectives: This study's aim was to examine whether treatment with pioglitazone, added to conventional lipid-lowering therapy, would improve myocardial glucose utilization (MGU) and blood flow (MBF) in nondiabetic patients with familial combined hyperlipidemia (FCHL).

Background: Thiazolidinediones were found to improve insulin sensitivity and MGU in type 2 diabetes and MBF in Mexican Americans with insulin resistance. Familial combined hyperlipidemia is a complex genetic disorder conferring a high risk of premature coronary artery disease, characterized by high serum cholesterol and/or triglyceride, low high-density lipoprotein (HDL) cholesterol, and insulin resistance.

Pioglitazone added to conventional lipid-lowering treatment in familial combined hyperlipidaemia improves parameters of metabolic control: relation to liver, muscle and regional body fat content.

Familial combined hyperlipidaemia (FCHL) is a complex genetic disorder conferring high risk of premature atherosclerosis, characterized by high cholesterol and/or triglyceride, low high density lipoprotein (HDL) cholesterol and insulin resistance. We examined whether pioglitazone, added to conventional lipid-lowering therapy, would favourably affect metabolic parameters and alter body fat content. We undertook a randomized, double blind, placebo-controlled study in 22 male patients with FCHL treated with pioglitazone or matching placebo 30 mg daily for 4 weeks, increasing to 45 mg for 12 weeks.

Estrogens, lipoproteins, and cardiovascular risk factors: an update following the randomized placebo-controlled trials of hormone-replacement therapy.

Purpose Of Review: The effects of hormone-replacement therapy on cardiovascular risk factors are examined. In an attempt to explain the results of recent randomized controlled trials in which no benefit of hormone-replacement therapy for postmenopausal women has been observed,

Recent Findings: Changes in lipoproteins in response to hormone-replacement therapy have now been analysed for both primary and secondary prevention studies. In none of the large randomized controlled trials was there any effect of hormone-induced changes in low-density lipoprotein, high-density lipoprotein, or triglyceride on clinical outcome.

Linkage and association between distinct variants of the APOA1/C3/A4/A5 gene cluster and familial combined hyperlipidemia.

Objective: Combined hyperlipidemia is a common disorder, characterized by a highly atherogenic lipoprotein profile and a substantially increased risk of coronary heart disease. The purpose of this study was to establish whether variations of apolipoprotein A5 (APOA5), a newly discovered gene of lipid metabolism located 30 kbp downstream of the APOA1/C3/A4 gene cluster, contributes to the transmission of familial combined hyperlipidemia (FCHL).

Methods And Results: We performed linkage and association tests on 128 families.

Confirmed locus on chromosome 11p and candidate loci on 6q and 8p for the triglyceride and cholesterol traits of combined hyperlipidemia.

Unlabelled: Background- Combined hyperlipidemia is a common disorder characterized by a highly atherogenic lipoprotein profile and increased risk of coronary heart disease. The etiology of the lipid abnormalities (increased serum cholesterol and triglyceride or either lipid alone) is unknown.

Methods And Results: We assembled 2 large cohorts of families with familial combined hyperlipidemia (FCHL) and performed disease and quantitative trait linkage analyses to evaluate the inheritance of the lipid abnormalities.

Integrating mental illness prevention into community-based undergraduate education.

Including preventive models of health care in undergraduate education is essential as the nursing profession moves increasingly to community-based care. Traditionally, mental health curricula have focused primarily on psychopathology. This article presents current research in the attachment and temperament literature, which provides sound evidence for the need to synthesize prevention of mental illness concepts into undergraduate education.

Precursors of mental health problems for low birth weight children: the salience of family environment during the first year of life.

The purpose of this study was to determine the contributions of infant characteristics and early family environment to the incidence of emotional and behavioral problems for low birth weight children. Data were collected from ethnically diverse families of 110 children who had a birth weight of less than 2500 grams. Results of stepwise regression analysis indicated that inadequate family income, troubles with family cohesion and adaptability, and an infant's insecure attachment to the mother accounted for 48% of the variance in the incidence of emotional-behavioral problems for children.

A retrospective assessment of the effectiveness of fenofibrate 267 mg on high-density lipoprotein cholesterol levels in patients attending a lipid clinic.

Background: A high-density lipoprotein cholesterol level (HDL-C) <1 mmol/L is associated with increased cardiovascular morbidity and mortality. In clinical trials, fibrates have been shown to increase levels of HDL-C, with subsequent reduction in cardiovascular risk.

Objective: This study evaluated the use of fenofibrate 267 mg/d in a routine lipid clinic setting to determine how much HDL-C could be increased in everyday clinical practice.

The choice of hormone replacement therapy or statin therapy in the treatment of hyperlipidemic postmenopausal women.

Unlabelled: Evidence based treatment of cardiovascular risk factors on outcome in women is still inconclusive given the very large numbers needed to achieve a significant difference in cardiovascular event. Although numerous studies of the effect of hormone replacement therapy (HRT) on risk factors have suggested benefit, the only data from a randomised control trial of HRT in secondary prevention was neutral. Coronary disease-primary prevention: (a) Statins: Air Force/Texas Coronary Atherosclerosis Prevention Study (AFCAPS/TEX CAPS).