Objective: Early diagnosis and treatment of heterozygous familial hypercholesterolaemia (HeFH) is known to be associated with reduced mortality from premature coronary artery disease, but HeFH remains underdiagnosed. This survey aims to determine knowledge and current management of HeFH in general practice.
Setting: An online questionnaire was administered to general practitioners' (GPs') in the North West of England to assess their knowledge and management of HeFH.
In the present study, 24 Y-chromosomal short tandem repeat (Y-STR) loci were analyzed in 250 unrelated Hani male individuals from Lvchun county, Honghe Hani and Yi Autonomous Prefecture, Yunnan Province, Southwest China. The gene diversity of the 24 Y-STR loci in the studied Hani group ranged from 0.2683 (DYS437) to 0.
View Article and Find Full Text PDFVariability in satellite measurements of terrestrial greenness in drylands is widely observed in land surface processes and global change studies. Yet the underlying causes differ and are not fully understood. Here, we used the GeogDetector model, a new spatial statistical approach, to examine the individual and combined influences of physiographic factors on dryland vegetation greenness changes, and to identify the most suitable characteristics of each principal factor for stimulating vegetation growth.
View Article and Find Full Text PDFFamilial hypercholesterolaemia (FH) is the most common and serious monogenic disorder of lipoprotein metabolism that leads to premature coronary heart disease. Patients with FH are often under-treated, and many remain undiagnosed. The deployment of the FH Australasia Network Registry is a crucial component of the comprehensive model of care for FH, which aims to provide a standardised, high-quality and cost-effective system of care that is likely to have the highest impact on patient outcomes.
View Article and Find Full Text PDFReverse transcription quantitative-polymerase chain reaction (RT-qPCR) is a routine method for gene expression analysis, and reliable results depend on proper normalization by stable reference genes. Caloric restriction (CR) is a robust lifestyle intervention to slow aging and delay onset of age-associated diseases via inducing global changes in gene expression. Reliable normalization of RT-qPCR data becomes crucial in CR studies.
View Article and Find Full Text PDFBackground: 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.
Objectives: 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.
Methods: The frequency of FCHL and elevated Lp(a) was investigated in 206 FH mutation-negative index cases attending a specialist lipid clinic.
Doxorubicin (adriamycin), an anthracycline antibiotic, is commonly used to treat many types of solid and hematological malignancies. Unfortunately, clinical usage of doxorubicin is limited due to the associated acute and chronic cardiotoxicity. Previous studies demonstrated that Astragalus polysaccharide (APS), the extracts of Astragalus membranaceus, had strong anti-tumor activities and anti-inflammatory effects.
View Article and Find Full Text PDFBackground: Familial hypercholesterolaemia (FH) is a common autosomal co-dominant condition that causes premature cardiovascular disease. Awareness of FH is poor and only 10-15% of the affected population is identified. Electronic health records provide an opportunity to increase detection and awareness in general practice OBJECTIVE: To determine whether a simple electronic extraction tool can increase detection of FH in general practice.
View Article and Find Full Text PDFThe genetic polymorphisms of 20 autosomal short tandem repeat (STR) loci included in the PowerPlex® 21 kit were evaluated in 522 healthy unrelated Vietnamese from Yunnan, China. All of the loci reached the Hardy-Weinberg equilibrium. These loci were examined to determine allele frequencies and forensic statistical parameters.
View Article and Find Full Text PDFBackground: We compared the efficacy of postoperative chemoradiation (POCRT) and surgery alone (SA) in patients with stage II-III esophageal squamous cell carcinoma (ESCC).
Methods: We analyzed the records of 265 patients with stage II-III ESCC who had undergone transthoracic esophagectomy and lymphadenectomy; 105 patients received POCRT, while 160 had SA.
Results: The median disease-free survival (DFS) of the whole cohort was 22 months (95% confidence interval [CI], 19.
Background And Aims: Familial hypercholesterolaemia (FH) profoundly increases the risk of coronary artery disease (CAD). We investigated whether diet and a bile-acid sequestrant decrease coronary atherosclerosis in patients with FH.
Methods: We identified 26 men with FH and CAD, participating in the St Thomas' Atherosclerosis Regression Study, who had been randomized to receive a fat-modified diet plus cholestyramine (8 g twice daily) (DC, n = 12) or usual care (UC, n = 14), and investigated the relative effects of these treatments on the angiographic progression of coronary atherosclerosis over 39 months.
Fibrodysplasia ossificans progressiva (FOP) is a rare and devastating genetic disease of heterotopic endochondral ossification (HEO), and currently no effective therapies are available for this disease. A recurrent causative heterozygous mutation (c.617 G>A; R206H) for FOP was identified in activin receptor type IA (ACVR1), a bone morphogenetic protein (BMP) type I receptor.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
October 2016
Context: Impaired postprandial chylomicron metabolism induces hypertriglyceridemia and may increase the risk of atherosclerotic cardiovascular disease. Omega-3 fatty acid ethyl ester (ω-3 FAEE) supplementation decreases plasma triglycerides. However, its effect on postprandial chylomicron metabolism in familial hypercholesterolemia (FH) has not yet been investigated.
View Article and Find Full Text PDFIntroduction: Familial Hypercholesterolaemia (FH) is the most common monogenic disorder causing premature Coronary Artery Disease (CAD). However, the majority of people with FH are undiagnosed and under treated.
Aim: To determine awareness, knowledge and practices of registered medical practitioners regarding FH in India.
Familial hypercholesterolemia (FH) is the most common and serious form of inherited hyperlipidaemia. Dominantly inherited with high penetrance, untreated FH leads to premature death from coronary artery disease due to accelerated atherosclerosis from birth. Despite its importance, there is still a major shortfall in awareness, detection and treatment of FH worldwide.
View Article and Find Full Text PDFDepression is common among elderly people, but people from various study settings were at different levels of risk for depression. However, most of the existing studies were conducted among community population, and little was known about depression among institutionalized population. In this study, using a national sample, we aimed to compare the prevalence rate of depression and its associated factors between community-dwelling elderly people (CDEP) and elderly medical inpatients (EMI).
View Article and Find Full Text PDFBone marrow mesenchymal stem cells (BMSCs), which are well characterized and widely utilized adult stem cells, encompass the capacity to commit to a variety of cell types. This study was conducted to develop an effective way to induce goat BMSCs (gBMSCs) to transdifferentiate toward putative male germ cells by overexpressing STRA8 (stimulated by RA-8), BOULE (also called BOLL), and DAZL (deleted in azoospermia-like). First, we found that the expression levels of these 3 genes gradually increased during development of the goat testis from 10 days postnatal to 8 months old.
View Article and Find Full Text PDFBiochem Biophys Res Commun
August 2016
Insulin stimulates adiponectin secretion and glucose transporter type 4 (GLUT4) translocation in adipocyte to regulate metabolism homeostasis. Similar to GLUT4 translocation, intracellular trafficking and release of adiponectin in adipocytes relies on the trans-Golgi network and endosomal system. Recent studies show that the heavy chain of conventional kinesin (KIF5B) mediates GLUT4 translocation in murine 3T3-L1 adipocytes, however, the motor machinery involved in mediating intracellular trafficking and release of adiponectin is unknown.
View Article and Find Full Text PDFAim: To evaluate whether some magnetic resonance imaging (MRI) signs suggesting idiopathic intracranial hypertension (IIH) could also be found in intracranial hypertension (IH) due to cerebral venous thrombosis (CVT) and to assess their possible contribution to diagnosing this disorder.
Materials And Methods: Thirty-one patients with IH due to CVT were evaluated prospectively using MRI. A group of 33 age- and sex-matched healthy volunteers served as controls.
Previous pharmacokinetic studies of deltamethrin (DLM) have revealed that brain levels of this highly lipophilic pyrethroid insecticide are only 15-20% of plasma levels. Experiments were performed to assess determinants limiting CNS access including plasma protein binding and the efflux transporter, P-gp. A human brain microvascular endothelial cell line, hCMEC/D3, was utilized as a model in vitro system to evaluate blood-brain barrier (BBB) permeation.
View Article and Find Full Text PDFSeveral international guidelines and consensus statements have recently been published on the care of familial hypercholesterolemia (FH)(1-3)). They agree on approaches to case detection and cascade testing, protocols in children, lifestyle and drug treatment strategies, and indications for lipoprotein apheresis. However, most countries in the world still do not have integrated, systematic FH screening programs to adequately detect and treat cases in the community.
View Article and Find Full Text PDFBackground: The associations of sarcopenia with adverse health status have highlighted the importance of sarcopenia research and intervention. This study was designed to analyze the characteristics of aging-related differences in appendicular skeletal muscle mass (ASM), handgrip strength (HS), gait speed (GS) and their associated factors in older Chinese, in order to generate guidance for sarcopenia intervention in this population.
Methods: Population-based cross-sectional study.
Objective: To evaluate the performance of a new electronic screening tool (TARB-Ex) in detecting general practice patients at potential risk of familial hypercholesterolaemia (FH).
Methods: Medical records for all active patients seen between 2012 and 2014 (n=3708) at a large general practice in Perth, Western Australia were retrospectively screened for potential FH risk using TARB-Ex. Electronic extracts of medical records for patients identified with potential FH risk (defined as Dutch Lipid Clinic Network Criteria (DLCNC) score ≥5) through TARB-Ex were reviewed by a general practitioner (GP) and lipid specialist.
Excess energy intake correlates with the development of metabolic disorders. However, different energy-dense foods have different effects on metabolism. To compare the effects of a high-fat diet, a high-fructose diet and a combination high-fat/high-fructose diet on glucose and lipid metabolism, male C57BL/6 mice were fed with one of four different diets for 3 months: standard chow; standard diet and access to fructose water; a high fat diet; and a high fat diet with fructose water.
View Article and Find Full Text PDF