Search results for "Milia"

A targeted apoB38.9 mutation in mice is associated with reduced hepatic cholesterol synthesis and enhanced lipid peroxidation.

2006

Familial hypobetalipoproteinemia (FHBL) due to truncation-specifying mutations of apolipoprotein B (apoB), which impair hepatic lipid export in very low-density lipoprotein (VLDL) particles, is associated with fatty liver. In an FHBL-like mouse with the apoB38.9 mutation, fatty liver develops despite reduced hepatic fatty acid synthesis. However, hepatic cholesterol contents in apoB38.9 mice are normal. We found that cholesterogenic enzymes (3-hydroxy-3-methylglutaryl-coenzyme A reductase, sterol-C5-desaturase, and 7-dehydrocholesterol reductase) were consistently downregulated in two separate expression-profiling experiments using a total of 19 mice ( n = 7 each for apob+/+and apob+/38.9, …

Polymorphisms at theSRBIlocus are associated with lipoprotein levels in subjects with heterozygous familial hypercholesterolemia

2002

Scavenger receptor, class B, type 1 (SRBI) is a promising candidate gene involved in the pathophysiology of atherosclerosis. We have examined the association of three common polymorphisms at the SRBI locus in 77 subjects who were heterozygous for familial hypercholesterolemia (FH). The alleles represented by polymorphisms in exon 1 and exon 8 were associated with variation in plasma concentrations of fasting triglyceride (TG). Mean plasma TG concentrations for homozygotes for the most common allele, and for heterozygotes and homozygotes for the less common allele were 85 +/- 6, 111 +/- 9 and 135 +/- 22 mg/dl (p = 0.011) for exon 1, and 96 +/- 11, 86 +/- 6 and 134 +/- 13 mg/dl (p = 0.007) fo…

In vivo metabolism of LDL subfractions in patients with heterozygous FH on statin therapy

2004

LDL can be subfractionated into buoyant (1.020-1.029 g/ml(-1)), intermediate (1.030-1.040 g/ml(-1)), and dense (1.041-1.066 g/ml(-1)) LDLs. We studied the rebound of these LDL-subfractions after LDL apheresis in seven patients with heterozygous familial hypercholesterolemia (FH) regularly treated by apheresis (58 +/- 9 years, LDL-cholesterol = 342 +/- 87 mg/dl(-1), triglycerides = 109 +/- 39 mg/dl(-1)) and high-dose statins. Apolipoprotein B (apoB) concentrations were measured in LDL subfractions immediately after and on days 1, 2, 3, 5, and 7 after apheresis. Compartmental models were developed to test three hypotheses: 1) that dense LDLs are derived from the delipidation of buoyant and in…

2214Prevalence and severity of coronary disease in patients with familial hypercholesterolemia hospitalized for an acute myocardial infarction: data …

2019

Abstract Aim Individuals with heterozygous familial hypercholesterolemia (FH) are at high risk of early myocardial infarction (MI). However, coronary artery disease (CAD) burden of FH remains not well described. From a large database of a regional registry of acute MI, we aimed to address prevalence of FH and severity of CAD. Methods Consecutive patients hospitalized with MI in a multicentre database from 2001–2017 were considered. An algorithm, adapted from Dutch Lipid Clinic Network criteria, was built upon 4 variables (LDL-cholesterol (LDL-C) and lipid lowering agents, premature and family history of CAD) to identify FH probabilities. Results Among the 11624 patients included in the surv…

Insulin resistance and familial dyslipidaemias

1999

Lomitapide treatment highly affects lipoprotein profile and HDL functionality in patients with familial hypercholesterolemia

2015

Indications of PCSK9 inhibitors in clinical practice. Recommendations of the Spanish Society of Arteriosclerosis (SEA), 2019

2019

A group of experts convened by the Spanish Society of Arteriosclerosis (SEA) has been in charge of updating the SEA document on the indications of PCSK9 inhibitors (PCSK9i) in clinical practice that was published in 2016. This update is justified by the fact that the data from clinical trials carried out on a large scale with PCSK9i have shown that in addition to their high potency to lower atherogenic cholesterol, they reduce the risk of atherosclerotic cardiovascular disease, both in patients with stable disease, and with recent disease, and with a high degree of security. This update provides the recommendations and level of evidence for the prescription of iPCSK9 in patients with homozy…

AB0715 THE PREVALENCE OF FIBROMIYALGIA IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THE RELATIONSHIP BETWEEN FATIGUE AND QUALITY OF LIFE

2021

Background:Familial Mediterranean Fever (FMF) can cause various muscle diseases. Because it is a chronic auto inflammatory disease, painful trigger points may be encountered in the examination due to a decrease in the pain threshold (1-3).Objectives:The aim of this study was to determine the prevalence of Fibromiyalgia in patients with FMF, at the same time to identify the relationship between fatigue and quality of life.Methods:Sixtyseven patients (38 female, 29 male) with FMF were enrolled in the study. They were diagnosed with FMF based on the Livneh diagnostic criteria (4). Fibromyalgia involvement of the patients was evaluated according to the Fibromyalgia Impact Questionnaire (FIQ). P…

EXPERIENCE OF REMOVING BENIGN NEOPLASMS OF SKIN IN CERVICOFACIAL AREA USING THE METHOD OF PLASMA ABLATION

2017

Choosing appropriate methods for removal of benign skin lesions (BSL) in the cervicofacial area has always been an important and challenging issue. Removal of the BSL is indicated and performed for medical and aesthetic reasons. A method with less painful procedures, a short healing period, without noticeable long-lasting traces (such as scars, dyschromia) and, predictably, fewer repeat procedures is preferred. Objectives. Evaluation of the effectiveness, safety and convenience of BSL plasma ablation using Plexr® (GMV, Italy); Comparison of the reparative processes speed after the BSL removal in the cervicofacial area applying the Plexr® device with other instrumental methods (based on lite…

Prevalencia de los trastornos del espectro autista: revisión de datos

2016

Published data on the prevalence of autism spectrum disorders point to a significant increase in this indicator. This increase is being studied in numerous publications of analysis, meta-analysis and systematic reviews. The prevalence indicates the proportion of people who suffer at a given time or are diagnosed with a disease. The consequences of the increasing prevalence are relevant from the point of health, social and educational, but especially relevant when as is the case, the cause of the disorder is unknown. It is in this sense that the prevalence study gains importance in order to delimit various circumstances that may give clues to the possible cause or causes that generate disord…