[Show abstract][Hide abstract] ABSTRACT: Aim
To assess tobacco use and some characteristics of tobacco users (including electronic cigarette users) relevant to cardiovascular disease in a representative population sample of the city of Brno.
A cross-sectional survey of cardiovascular risk factors was conducted using the methodology of the Czech post-MONICA Study, in the city of Brno, Czech Republic in 2013. This preliminary report of the first 965 randomly selected volunteers (including 512 women) aged 25–64, focuses on tobacco use, its prevalence in different subgroups as well as on the attitudes towards smoke-free policies.
This preliminary analysis involves 965 individuals with a mean age of 47.3 ± 11.40 years. The prevalence of smoking was 26.7%, with daily tobacco use 23.3%, less than once daily 3.4%; 19.9% of the sample are ex-smokers. A total of 34.0% of the survey population reported exposure to passive smoking. Electronic cigarette use was observed in 3.5% of respondents, more common in men (5.1%) than in women (2.1%; p = 0.020). Concomitant use of electronic cigarettes and smoking was observed in 2.07% of the population.
The prevalence of tobacco use in the productive-age population of Brno City district is 26.70%, still a high figure.
[Show abstract][Hide abstract] ABSTRACT: This position statement of the Executive Committee of the Czech Society for Atherosclerosis (CSAT) summarizes the most important aspects and novelties of the latest European guidelines for the management of dyslipidemia. In particular the position statement comments on: cardiovascular risk stratification, indications for plasma lipid and lipoprotein levels assessment as well as target lipid values, evaluation of current options for both lifestyle and pharmacological treatment of lipid metabolism disorders and, also, recommendation for laboratory monitoring of patients treated with lipid lowering agents. The statement deals with actual concepts of management of dyslipiemia in everyday practice, e.g. therapy of dyslipidemia in special patients´ groups. This statement does not replace the latest guidelines but focuses on the changes from the former guidelines for dyslipidemia management, published by CSAT in 2007.Key words: dyslipidemia - risk stratification - LDL-cholesterol - statins - fibrates - niacin - ezetimibe - resins.
[Show abstract][Hide abstract] ABSTRACT: Familial hypercholesterolemia (FH), a major risk for coronary heart disease, is predominantly associated with mutations in the genes encoding the low-density lipoprotein receptor (LDLR) and its ligand apolipoprotein B (APOB).
In this study, we characterize the spectrum of mutations causing FH in 2239 Czech probands suspected to have FH. In this set, we found 265 patients (11.8%) with the APOB mutation p.(Arg3527Gln) and 535 patients (23.9%) with a LDLR mutation. In 535 probands carrying the LDLR mutation, 127 unique allelic variants were detected: 70.1% of these variants were DNA substitutions, 16.5% small DNA rearrangements, and 13.4% large DNA rearrangements. Fifty five variants were novel, not described in other FH populations. For lipid profile analyses, FH probands were divided into groups [patients with the LDLR mutation (LDLR+), with the APOB mutation (APOB+), and without a detected mutation (LDLR-/APOB-)], and each group into subgroups according to gender. The statistical analysis of lipid profiles was performed in 1722 probands adjusted for age in which biochemical data were obtained without FH treatment (480 LDLR+ patients, 222 APOB+ patients, and 1020 LDLR-/APOB- patients). Significant gradients in i) total cholesterol (LDLR+ patients > APOB+ patients = LDLR-/APOB- patients) ii) LDL cholesterol (LDLR+ patients > APOB+ patients = LDLR-/APOB- patients in men and LDLR+patients > APOB+ patients >LDLR-/APOB- patients in women), iii) triglycerides (LDLR-/APOB- patients > LDLR+ patients > APOB+ patients), and iv) HDL cholesterol (APOB+ patients > LDLR-/APOB- patients = LDLR+ patients) were shown.
Our study presents a large set of Czech patients with FH diagnosis in which DNA diagnostics was performed and which allowed statistical analysis of clinical and biochemical data.
[Show abstract][Hide abstract] ABSTRACT: The aim of this study was to determine whether the atherogenic index of plasma (AIP=log[triglycerides/HDL-cholesterol]) differs in heterozygous familial hypercholesterolemia (FH) patients with and without a history of cardiovascular disease (CVD).
A total of 555 FH patients with known mutations in the LDL receptor or the apolipoprotein B gene, of whom 53 had a history of CVD (CVD+ group), were retrospectively analyzed.
Compared to patients without CVD (CVD- group), CVD+ patients showed significantly higher fasting LDL-cholesterol, triglycerides and AIP as well as lower HDL-cholesterol. After both adjustment for age and diabetes and using analysis based on age and sex matched groups, only the increase in triglycerides and AIP in the CVD+ vs. the CVD- group remained significant.
The results of the present study indicate that AIP, which reflects the presence of atherogenic small LDL and small HDL particles, may be connected to the risk of CVD in FH patients.
[Show abstract][Hide abstract] ABSTRACT: The etiology of sexual dysfunction in patients with epilepsy is perceived as multifactorial, with seizure and medication effects being the most often discussed and analyzed factors. We used common statistical methods to evaluate the impact of type of epilepsy, antiepileptic medication, hormones, seizure control, and symptoms of depression and anxiety on sexual function in a group of 78 women with epilepsy. To assess sexual function, we used the Female Sexual Function Index (FSFI). To assess symptoms of depression and anxiety, we used the Beck Depression and Anxiety Inventories (BDI, BAI). Of all the observed factors, only BDI score was significantly correlated with FSFI score. There was no correlation between FSFI, hormonal levels, seizure frequency, and symptoms of anxiety. No differences were found between patients with focal and those with generalized epilepsies; between seizure-free and non-seizure-free patients; or in relation to the number and type of antiepileptic medications.
[Show abstract][Hide abstract] ABSTRACT: Familial hypercholesterolemia (FH) is an inborn disorder of lipid metabolism characterised by elevated plasma concentrations of low-density lipoprotein cholesterol and total cholesterol. This imbalance results in accelerated atherosclerosis and premature coronary heart disease. The early identification and treatment of FH patients is extremely important because it leads to significant reduction of both coronary morbidity and mortality. FH is transmitted in an autosomal dominant manner and associated predominantly with mutations in the genes encoding the low-density lipoprotein receptor (LDLR) and its ligand apolipoprotein B (APOB). To date, more than 1000 sequence variants have been described in the LDLR gene. In marked contrast to LDLR, only one APOB mutation is prevalent in Europe.
The aim of this study was, on the basis of data obtained by the molecular genetic analysis of 1945 Czech FH probands, to propose, generate, and validate a new diagnostic tool, an APEX (Arrayed Primer EXtension)-based genotyping DNA microarray called the FH chip. The FH chip contains the APOB mutation p.Arg3527Gln, all 89 LDLR point mutations and small DNA rearrangements detected in Czech FH patients, and 78 mutations frequent in other European and Asian FH populations. The validation phase revealed the sensitivity and specificity of this platform, 100% and 99.1%, respectively.
This FH chip is a rapid, reproducible, specific, and cost-effective tool for genotyping, and in combination with MLPA (multiple ligation-dependent probe amplification) represents a reliable molecular genetic protocol for the large-scale screening of FH mutations in the Czech population.