"Finnish" mutations in LDL receptor gene: a rare cause of familial hypercholesterolemia in St. Petersburg and Petrozavodsk.

The search for two mutations, FH-Helsinki and FH-North Karelia, in LDL receptor gene was carried out in patients with familial hypercholesterolemia from St. Petersburg (80 families) and Petrozavodsk (80 families) using allele-specific PCR and analysis of single-stranded DNA fragment conformation polymorphism (SSCP analysis) with subsequent sequencing. The FH-North Karelia mutation was found in one family in St.

[Family and polygenic hypercholesteremia: similarities and differencies according to long-term clinical observations].

Aim: Detection and analysis of similarities and differences in patients with family and polygenic hypercholesterolemia (FHCE and PHCE).

Material And Methods: The study included 100 patients with FHCE and 80 PHCE patients with LD-LP cholesterol level at least 4.3 mmol/l (170 mg/dl).

[About dyslipidemic states characteristic for various forms of ischemic heart disease and cerebrovascular damages].

We examined 4 groups of patients younger than 70 years with atherosclerosis of coronary and/or cerebral arteries. In 98 patients the disease began as acute myocardial infarction, 65 patient from the very beginning suffered from angina of effort, 33 had ischemic cerebral stroke, and in 26 dyscirculatory encephalopathy was diagnosed. Among patients with ischemic heart disease (IHD) and cerebrovascular damages (CVD) 87 and 89%, respectively, had dyslipidemia (DLP).

[Familial hypercholesterolemia in St. Petersburg: diversity of mutations argues against a strong founder effect].

Examination of low-density lipoprotein (LDL) receptor, its promoter, and major exon-intron boundaries from a sample of patients with familial hypercholesterolemia (FH) from 74 probands of St. Petersburg revealed 34 mutations and 8 widely spread polymorphisms at this locus. Only four mutations were considered silent, while the other 30 are likely associated with familial hypercholesterolemia (FH).

[Atherogenic changes of blood lipids and their components in patients after ischemic stroke].

The aim of the study is to analyze frequency and character of blood lipids abnormalities in patients after ischemic stroke (IS). Blood lipids were studied in 54 patients who survived ischemic stroke at 38-70 years. Atherogenic dyslipidemia was found in 49 (90.

[Localization of vessel lesions in arteriosclerosis and blood lipid composition].

Aim: To investigate correlations between composition of plasmic lipid fractions in patients with ischemic heart disease (IHD) and those with cerebrovascular insufficiency (CVI) caused by atherosclerosis.

Material And Methods: 75 patients were divided into three groups; 26 patients with IHD free of CVI (group 1), 22 patients with CVI free of IHD (group 2), 27 patients with IHD and CVI (group 3). Blood lipids were measured by a standard mesiautomatic method using Technicon-AA-2 unit (USA).

[Search for frequently encountered mutations in genes predisposing to breast cancer].

DNA of oncological patients, including Ashkenazi Jews and Slavs, living in St. Petersburg was collected, and the resultant collection was screened for three common mutations of genes BRCA1 and BRCA2 by means of heteroduplex analysis. The mutation 5382insC in exon 20 of the BRCA1 gene was found in four unrelated patients, including three Slavs and one Ashkenazi Jew, with a positive family history of breast cancer.

[Four new mutations and polymorphic variants of the low density lipoprotein receptor in patients with familial hypercholesterolemia in Saint Petersburg].

In a collection of DNA samples from 100 unrelated patients with clinical features of familial hypercholesterolemia (FH), a search for mutations of exons 4 and 10 of the low-density lipoprotein (LDL) receptor gene was performed using heteroduplex and single-strand conformational polymorphism (SSCP) analyses followed by sequencing of amplified DNA fragments. Four new mutations of the LDL receptor gene were identified: C146R (c.499 T > C), A130P (c.

[Identification of novel missense mutation G571E, novel silent mutation H229H, nonsense mutation C74X, and four single nucleotide polymorphisms in the low-density lipoprotein receptor in patients with familial hypercholesterolemia from St. Petersburg].

Novel missense mutation G571E (c.1775 G > A), novel silent mutation H229H (c.750 C > T), and nonsense mutation C74X (c.

[An epidemiological assessment of ischemic heart disease and mortality in men over 70 in the population of Saint Petersburg].

Aim: To analyze prevalence of ischemic heart disease (IHD), main IHD risk factors and mortality in the population of males aged 70-79 and over 80 years.

Materials And Methods: The study included 209 males aged 70-79 years and 96 males over 80. All the males were examined for IHD and 3 main risk factors: blood hypertension, hyperlipidemia and smoking.

[The characteristics of the hypolipidemic effect of Mevacor with its permanent multiyear use].

Changes in blood lipids were assessed in the course of 4 years in 29 patients with cholesterol (CS) levels at least 300 mg/dl (hyperlipidemia). Of these, 20 received mevacor, 9 were controls. Taking mevacor in a dose 20-40 mg/day for 6 months reduced CS in the study group by 20% and by 10% more within the next 6 months.

[The clinico-genetic aspects of familial hypercholesterolemia and their applied significance].

Clinico-biochemical, genealogical evidence was compared to molecular-genetic findings on LDLP receptor gene in 4 families with a history of high blood cholesterol. It was found that members of the same family carrying the anomalous gene can demonstrate varying atherogenic shift in blood lipid fractions suggesting involvement of other endo- and exogenic factors. Molecular-genetic examination of subjects with family hypercholesterolemia discovered a family with structural derangement of the gene, two families with spot defects and a family in which the proband's hypercholesterolemia seemed unrelated to changes in the gene, but probably related to the gene controlling synthesis of apoB-protein.

[Molecular heterogeneity of familial hypercholesterolemia in the St. Petersburg population].

Inheritance of Taq I, BstE II, and Nco I restriction fragment length polymorphisms (RFLP) in three families from St. Petersburg with familial hypercholesterolemia (FH) was studied. In two of these families, polymorphic markers of the low density lipoprotein receptor (LDLR) gene cosegregated with the disease.

[A multiexon deletion in the human low density lipoprotein receptor gene as a reason for familial hypercholesterolemia].

Inheritance of Taq I, BstE II, and Nco I restriction fragment length polymorphisms (RFLP) in three families from St. Petersburg with familial hypercholesterolemia (FH) was studied. In two of these families, polymorphic markers of the low density lipoprotein receptor (LDLR) gene cosegregated with the disease.

[Psychophysiological approaches to assessing patients with painful and painless forms of ischemic heart disease].

By the results of bicycle ergometry test 28 coronary heart disease (CHD) patients were divided into 2 groups: with a pronounced anginal syndrome (group 1) and coronary insufficiency evident on ECG (group 2). Vegetative and psychophysiological parameters obtained in the examinees (heart rate, arterial pressure, pain threshold, personality profile) demonstrated that increased pain sensitivity, anxiety, predisposition to neurotic reactions were more typical for patients of group 1. Therapeutic response was achieved after psychophysiological correction by means of creation and activation of artificial stable functional connections of the brain.

[Hyperlipidemia as a factor of myocardial damage (experimental study)].

To elucidate the assumed direct negative effect of huperlipidemia (HL) on the myocardium, histological and electron microscopic studies of the myocardia of rabbits with alimentary hypercholesterolemia which were on an atherogenic diet for 30 days and underwent transesophageal pacing tests were conducted. An experimental group comprised 7 rabbits with HL, a control one included 4 animals. In HL rabbits, the cardiac pacing test caused irreversible myocardial histomorphological changes.

[Genealogy and the clinical manifestations of familial hyperlipidemias types IIa and IIb].

To analyze genealogical and clinical characteristics of family hyperlipidemia type IIa and IIb, the author examined 40 probands and 179 close relatives. Blood lipid composition was investigated in 85 of them. Hyperlipidemia was found in 42 examinees which is in accordance with previous findings on this trait inheritance.

[An evaluation of the hypolipidemic effects of lovastatin in primary hypercholesterolemia. A multicenter study].

In the multicenter trial, the hypolipidemic efficacy and adverse event profile of lovastatin were estimated in 294 patients with primary hypercholesterolemia. The mean baseline (on placebo) lipid and lipoprotein values were: total serum cholesterol (TC) 313 mg/dl, triglycerides (TG) 168 mg/dl, low density lipoprotein cholesterol (LDL-C) 235 mg/dl, high density lipoprotein cholesterol (HDL-C) 44.9 mg/dl.

[The thrombocyte function of subjects with atherogenic hyperlipidemias during lovastatin treatment].

The effects of lovastatin on in vivo spontaneous and in vitro ADP-induced platelet aggregability were studied in the blood of 36 persons with primary hyperlipidemias (HLP) of Types IIIa and IIb. In addition to decreases in blood cholesterol levels by an average of 33% and the atherogenicity coefficient to the normal levels, there was an increase in spontaneous and/or ADP-induced platelet aggregability in the first 2-3 months of lovastatin therapy. Lovastatin-induced in anti- and proaggregatory potential in the platelet-vascular wall system towards of the latter and spontaneous intravascular platelet formation suggest that there is a higher risk for thromboembolic events in the examined patients with Type II HLP, especially if they have coronary heart disease, during early stages of the drug administration.

[Cardiac contractility in males with post-infarction cardiac sclerosis as evidenced by ultrasonic scanning].

The relationship was examined between the severity of heart failure, the degree of asynergy and exercise tolerance in 40 males under 60 years with postinfarction cardiosclerosis. Fifteen healthy males were matched for as a control. Echocardiography was performed before and after bicycle ergometer exercise test, allowing the patients to be divided into 4 groups: Groups 1 and 2 without an ischemic response in the absence or presence of akinesia or dyskinesia, respectively; Groups 3 and 4 with an ischemic response in the absence or presence of akinesia or dyskinesia, respectively.

[Myocardial contractility in subjects with hyperlipidemia and patients with angina pectoris according to findings of bicycle ergometry echocardiography].

The left ventricular contractility was evaluated in patients with hyperlipidemia or uncomplicated Functional Class I-III angina by using echocardiography at rest and during bicycle ergometric tests. A total of 47 males under 60 years were examined, who were divided into 4 groups: 1) 10 healthy subjects; 2) 14 hyperlipidemic subjects without signs of coronary heart disease; 3) 10 patients with Functional Class I-III angina who showed no ischemic response to bicycle ergometry; and 4) 13 patients with angina pectoris who showed an ischemic response to exercise. The patients had no history of myocardial infarction.