[Familial hypercholesterolemia due to a new mutation in the low density lipoprotein receptor gene].

UNLABELLED: Familial hypercholesterolemia (FHC) is a genetic disorder manifest as a rise in serum cholesterol level responsible for the development ofcardiovascular diseases. AIM: To study genetic peculiarities of FHC in Kareliya. MATERIALS AND METHODS: 109 patients of the 196 ones with FHC (124 families) were subjected to genetic examination. Other parameters studied included the lipid spectrum, blood glucose level, ECG, 24 hr ECG monitoring, echocardiography, triplex scanning of brachiocephalic arteries and lower limb vessels, functional tests. Simon Broom criteria were used to diagnose FHC. RESULTS: "Definitive" FHC was diagnosed in 136 (69.4%) patients, (probable) FHC in 30.6%. The total encoding region of the low density lipoprotein receptor gene was sequenced in 109 (55.6%) patients in parallel with the search for major mutations in the APOB and PCSK9 genes. A total of 13 mutations (p.G20R, c. 192del110/ins8, c.195-196insT, p.S206R, c925- 931del17, p.S447C, p.13981, p.L426P, L511S, c.1686del18/insT, p.L646I, p.N640N, c.2191delG) were identified in low density lipoprotein receptor gene; seven of them are reported for the first time in the world. No major mutations in the APOB and PCSK9 genes were found. The new c.2191delG (p.(Val73 1Serfs*6)) mutation is characterized and its segregation with familial dyslipidemia is shown. The present case is characterized by the absence of clinical picture of coronary heart disease and the family history complicated by cerebral basin lesion. Phenotypic manifestations of atherosclerosis in FHC with gene mutations need further studies.

[A case of familial hypercholesterolemia caused by a novel mutation p. FsS65:D129X of human low density lipoprotein receptor gene].

Novel mutation p. FsS65:D129X in human low density lipoprotein receptor gene in a female patient with typical clinical symptoms of familial hypercholesterolemia is described in this paper. Segregation of this mutation with hypercholesterolemia in the family of the patient from Petrozavodsk is demonstrated.

[Influence of genetic factors on the development of target organ lesions in relation to age in diagnosis of arterial hypertension].

AIM: To analyze the impact of polymorphism of a group of genes encoding for endothelial function on the development of target organ lesions in arterial hypertension (AH) in relation to age. SUBJECTS AND METHODS: Six hundred and seventy-two AH patients (mean age 50.6 years; men 67%) were examined. Microalbuminuria (MAU) was estimated. Electrocardiography, echocardiography, and carotid ultrasonography were performed. A control group comprised 184 subjects. Single-nucleotide substitutions genotyping of the Glu298Asp endothelial NO synthase (eNOS), p22phox of NADPH oxidase subunit C242T, and angiotensin II type 1 receptor (ATR1) A1166C gene polymorphisms was conducted by a polymerase chain reaction (PCR) via restriction fragment length polymorphism analysis, and M235T substitution genotyping of the G-6A polymorphism of the angiotensinogen gene was performed by a real-time allele-specific PCR. The impact of the polymorphisms on the development of MAU, left ventricular hypertrophy (LVH), carotid lesion was analyzed in the groups: AH was diagnosed in subjects aged less than 35 years (n = 128) or older. The ultrasound signs of carotid lesion, LVH, and MAU were revealed in 65, 39, and 10.5% of the patients with AH, respectively. RESULTS: The subgroups showed differences in the distribution of polymorphisms of the study genes in relation to age at AH detection. CONCLUSION: In patients with AH diagnosed at less than 35 years of age, pathological changes in the carotid are associated with a G allele of the Glu298Asp eNOS polymorphism (odds ratio (OR) = 2.3; p = 0.016) and with an T allele of the p22phox of NADPH oxidase subunit C242T polymorphism (OR 1.7; p = 0.049). In this age subgroup, LVH was associated with an A allele of the Glu298Asp eNOS polymorphism (OR = 1.9; p = 0.037), MAU was with an A allele of the Glu298Asp eNOS polymorphism (OR = 3.6; p = 0.02) and a C allele of the ATR1 A1166C gene polymorphism (OR = 2.6; p = 0.034).

[Optimization of directed training loads on the respiratory system].

Potentiality of an increased elastic resistance to respiratory movements in improving the functional conditioning of young athletes was evaluated. Training with increased elastic resistance to respiration brought about gains in strength and endurance of the respiratory muscles, growth of the maximal oxygen consumption, work ability, and special physical fitness of athletes.

[Influence of polymorphism's of endothelial nitric oxide synthase gene and polymorphism of NADPH oxidase gene on development of complications of arterial hypertension].

The aim of the study was to analyze the prevalence of polymorphism Glu298Asp of endothelial nitric oxide synthase gene and C242T p22 phox polymorphism of NADPH oxidase gene in patients with arterial hypertension (AH) and their influence on AH complications. The study included 272 AH patients, average age 50,7 years. The following analyses were performed: clinical analysis of the blood, general analysis of the urine, lipid spectrum, plasma electrolytes, creatinine, glucose, electrocardiography, echocardioscopy, examination of eye vessels, ultrasound examination of the carotid arteries, determination of microalbuminuria. The polymorphism Glu298Asp of endothelial nitric oxide synthase gene and C242T p22 phox polymorphism of NADPH oxidase gene were detected with two methods: polymerase chain reaction and restrictase reaction. The control group for Glu298Asp polymorphism detection included 102 healthy Russian donors aged 18 to 50 years. Genotypes prevalence in AH patients was as follows: GG 58,8%, GA 32,3%, AA 8,9%, and CC 48,2%, CT 44,9%, TT 6.9%. In the control group: GG 53%, GA 36%, AA 11% and CC 42%, CT 54%, TT 4%. These polymorphisms did not affect the incidence of complications, such as obliterating atherosclerosis of the lower extremity vessels, ischemic heart disease, and acute insufficiency of cerebral circulation, chronic heart failure, left ventricular hypertrophy, microalbuminuria, carotid arteries atherosclerosis.

[Epidemiologic situation of arterial hypertension on industrial enterprise].

Arterial hypertension is widely prevalent disease (38.1% in Russia) and increases death rate with coronary heart disease 3-fold, with stroke--6-fold. Multiple prospective studies proved that opportune diagnosis of arterial hypertension and other risk factors, as well as their sufficient correction considerably lower risk of occurrence and unfavorable outcomes of arterial hypertension complications. With this, organization of prophylactic programs on outpatient basis seems extremely important.

[Evaluation of benefits of the course of positive pressure breathing training on exercise performance].

The purpose was to evaluate effects of muscle training combined with positive pressure breathing on exercise performance of 16 runners at the age of 18-20. All subjects had the first or second-class sport qualification. The 4-wk. training course for the experimental group (n=11) included 20-25% of exercises performed in an aperture mask creating an inspiration-expiration resistance of 8-10 mm H2O. The control group (n=5) worked on the same training course but w/o positive pressure breathing. The course began and ended with the PWC170 test in order to evaluate exercise performance. Indices of external respiration and gas exchange were determined on metabolograph Ergooxyscreen (Jaeger) and lung-tester Spirosift-3000 (Fukuda). Inspiration and expiration force of the breathing muscles (mm Hg) was measured isometrically with the help of a pneumomanometer. Heart rate was calculated from ECG R-R intervals. It was stated that positive pressure breathing during muscle training increases significantly sportsmen's exercise performance due to growth of the body spare capacities, and optimization of the body systems dependence structure and efficiency.

[The preoperative assessment of concomitant ischemic heart disease in patients with an abdominal aortic aneurysm]. / Predoperatsionnaia otsenka soputstvuiushchei ishemicheskoi bolezni serdtsa u bol'nykh s anevrizmoi briushnoi aorty.

To reveal and evaluate the severity of concurrent coronary heart disease (CHD) in patients with atherosclerotic aneurysm of the abdominal aorta and to optimize preoperative preparation and intraoperative management, 38 patients underwent comprehensive physical examination, echocardiography, a set of ECG exercise tests. Concurrent CHD was encountered in 87% of cases with abdominal aortic aneurysm. The specific feature of CHD in this aortic abnormality is the predominance of its severe forms as evidenced by findings of coronary circulatory reserve. The incidence of postoperative events is directly related to the reserve of coronary circulation. With all these facts, patients with atherosclerotic aneurysm of the aorta should undergo ECG exercise tests and, depending on the findings, differential antianginal therapy in the preoperative period and nitrate use under the control of central hemodynamics during surgery.

[Morphofunctional criteria for the selection of patients with ischemic heart disease and associated arterial hypertension for surgical treatment]. / Morfofunktsional'nye kriterii otbora stradaiushchikh ishemicheskoi bolezn'iu serdtsa o soputstvuiushchei arterial'noi gipertoniei dlia khirurgicheskogo lecheniia.

After examination of 255 patients with ischemic heart disease (IHD) and concomitant arterial hypertension (AH) two groups were distinguished according the level of arterial pressure. Group 1 was formed of 89 patients (arterial pressure below 180/80 mm Hg), group 2--of 166 patients (arterial pressure above 180/100 mm Hg). Survival was determined according to certain morphofunctional indices (total affection of coronary arteries, left ventricular output fraction, left ventricular end diastolic pressure, tolerance to physical effort) in nonoperated on and operated on patients suffering from IHD and concomitant AH. It was found that the operation affects positively the "quality" of life more than the survival.