Aortic stenosis in homozygous familial hypercholesterolaemia: a paradigm shift over a century.

Aims: Homozygous familial hypercholesterolaemia (HoFH) is an orphan disease defined by extreme elevations in low-density lipoprotein cholesterol, cutaneous xanthomas, and pre-mature atherosclerotic cardiovascular disease. Survival has more than doubled over the past three decades. Aortic stenosis (AS) [supravalvular aortic stenosis (SVAS) or valvular aortic stenosis (VAS)] is commonly encountered.

Health-related quality of life in homozygous familial hypercholesterolemia: A systematic review and meta-analysis.

Background: Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disease characterized by extreme elevations of low-density lipoprotein cholesterol (LDL-C) and extremely premature atherosclerotic cardiovascular disease. To date, impacts of HoFH and its treatment on the psychosocial wellbeing of patients have been poorly characterized.

Objectives: We performed a systematic review of the association between HoFH and health-related quality of life (HRQL).

Lomitapide for treatment of homozygous familial hypercholesterolemia: The Québec experience.

Background And Aims: Homozygous familial hypercholesterolemia (HoFH) is an orphan disease, most often caused by bi-allelic mutations of the LDLR gene. Patients with HoFH have elevated LDL-C levels >13 mmol/L, tendinous xanthomata and severe, premature atherosclerotic cardiovascular disease (ASCVD). Untreated, most HoFH patients die of ASCVD in youth.

Evidence for improved survival with treatment of homozygous familial hypercholesterolemia.

Purpose Of Review: Homozygous familial hypercholesterolemia (HoFH) is an orphan disease caused by biallelic mutations at the LDL receptor (LDLR) gene, with a prevalence estimated at 1 : 250 000 to 1 : 630 000. HoFH is characterized by extremely elevated plasma levels of LDL-C greater than 10 mmol/l (>387 mg/dl), tendinous and cutaneous xanthomas in youth and premature atherosclerotic cardiovascular disease (ASCVD). The expected prevalence varies from country to country depending on the presence of founder effects, genetic probability and life expectancy.

The Lifelong Burden of Homozygous Familial Hypercholesterolemia.

Homozygous familial hypercholesterolemia is caused by mutations in the low-density lipoprotein receptor gene. It is diagnosed in children or youth who present with extensive tendinous and cutaneous xanthomas and extreme elevation of low-density lipoprotein cholesterol. Untreated, premature coronary artery disease develops in the teenage years or earlier and survival to ages older than 30 years is rare.

Simplified Canadian Definition for Familial Hypercholesterolemia.

Familial hypercholesterolemia (FH) is an autosomal codominant lipoprotein disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) and high risk of premature atherosclerotic cardiovascular disease. Definitions for FH rely on complex algorithms that are on the basis of levels of total or LDL-C, clinical features, family history, and DNA analysis that are often difficult to obtain. We propose a novel simplified definition for FH.

Knockdown of angiopoietin-like 2 mimics the benefits of intermittent fasting on insulin responsiveness and weight loss.

Angiopoietin-like 2 (ANGPTL2) is an inflammatory adipokine linking obesity to insulin resistance. Intermittent fasting, on the other hand, is a lifestyle intervention able to prevent obesity and diabetes but difficult to implement and maintain. Our objectives were to characterize a link between ANGPTL2 and intermittent fasting and to investigate whether the knockdown of ANGPTL2 reproduces the benefits of intermittent fasting on weight gain and insulin responsiveness in knockdown and wild-type littermates mice.

Aortic Calcification Progression in Heterozygote Familial Hypercholesterolemia.

Background: Patients with homozygous and heterozygous familial hypercholesterolemia (HeFH) develop severe aortic calcifications in an age- and gene dosage-dependent manner. The purpose of this study was to determine the rate of progression of aortic calcification in patients with HeFH.

Methods: We performed thoracoabdominal computed tomography scans and quantified aortic calcium (AoCa) score in 16 HeFH patients, all with the null low-density lipoprotein (LDL) receptor DEL15Kb mutation.

Crash avoidance in response to challenging driving events: The roles of age, serialization, and driving simulator platform.

We examined the crash avoidance behaviors of older and middle-aged drivers in reaction to six simulated challenging road events using two different driving simulator platforms. Thirty-five healthy adults aged 21-36 years old (M=28.9±3.

Near peripheral motion detection threshold correlates with self-reported failures of attention in younger and older drivers.

Motion contrast thresholds for 0.4cycle/degree drifting Gabor stimuli were assessed at 15 degrees eccentricity in the right and left visual fields for 16 younger drivers (ages 24-42), and 15 older drivers (ages 65-84), using a temporal two-alternative forced choice staircase procedure. Two self-report questionnaires that assess failures of attention while driving-the Driver Perception Questionnaire (DPQ5), and an abridged Aging Driver Questionnaire (ADQ15)-were administered.

Capturing the serial nature of older drivers' responses towards challenging events: a simulator study.

Older drivers' ability to trigger simultaneous responses in reaction to simulated challenging road events was examined through crash risk and local analyses of acceleration and direction data provided by the simulator. This was achieved by segregating and averaging the simulator's primary measures according to six short time intervals, one before and five during the challenging events. Twenty healthy adults aged 25-45 years old (M=29.

Organizational cultural competence in community health and social service organizations: how to conduct a self-assessment.

In an effort to address the significant socio-cultural changes in the population demographics of the United States (US) and Canada, organizations are increasingly seeking ways of improving their level of cultural competence. Evaluating organizational cultural competence is essential to address the needs of ethnic and cultural minorities. Yet, research related to organizational cultural competence is relatively new.

Preserved LTP and water maze learning in hyperglycaemic-hyperinsulinemic ZDF rats.

Previous investigations have demonstrated that cognitive deficits as well as hippocampal dysfunctions are generated in animals presenting manifestations of Type 1 diabetes (T1D) mellitus. The present study examined whether such deficits can also be reproduced in the Zucker Diabetic Fatty (ZDF) rats after they developed symptoms of Type 2 diabetes (T2D). Learning and memory assessments were performed using the Morris water maze 5 weeks after the animals presented symptoms of Type 1 diabetes for Experiment 1 (Exp 1) and after 8 weeks for Experiment 2 (Exp 2).