Search

Introduction. Vitamin D deficiency may be a natural predictor of the onset of coronary heart disease (CHD) and myocardial infarction (MI) at a young age. The results of studies of the various variants association of the vitamin D receptor (VDR) gene with the risk of CHD are contradictory, which leads to the study of genetic variants of the VDR gene as predictors of the onset of the disease at the age of 45 years and younger in the Russian population. The objective was to determine the distribution of TaqI, BsmI and ApaI genotypes of the VDR gene variants and the level of vitamin D sufficiency in CHD patients with different age of onset of the disease and myocardial infarction, among residents of St. Petersburg. Methods and materials. The study included 410 CHD patients and 320 examined patients without CHD clinical signs of comparable age (p>0.05). All patients with CHD underwent coronary angiography. Typing of VDR gene variants was carried out by polymerase chain reaction and subsequent restriction analysis. Determination of the level of 25(OH)D blood serum was carried out by enzyme immunoassay. Results. The level of 25(OH)D in the blood serum of CHD patients was lower than in the control group (15.61±0.52 ng/ml and 20.82±0.69 ng/ml respectively; p=0.001). Severe 25(OH)D deficiency was detected more often in CHD patients and was associated with an increased risk of CHD (23 % and 8 % respectively; p=0.001, OR=3.54 (1.88÷6.67)). The normal level of 25(OH)D sufficiency was more often detected in patients from the comparison group than in CHD patients, and was associated with a decrease of CHD risk (16 % and 4 % respectively; p=0.0002, OR=OR=0,21 (0,09÷0,48)). The presence of the aa genotype and the a allele (ApaI), the bb genotype and the b allele of the VDR gene (BsmI) is associated with an increased risk of CHD and the onset of the disease and MI at the age of 45 years and younger. Conclusions. Severe 25(OH)D deficiency is typical for CHD patients and was associated with an increased risk of CHD. The presence of the aa genotype and the a allele (ApaI), the bb genotype and the b allele of the VDR gene (BsmI) is associated with an increased risk of CHD and with the onset of the diseases and myocardial infarction at a young age. The TaqI variant of the VDR gene is not associated with the risk of CHD.

Background. Olivopontocerebellar atrophy (OPCA) is a rare neurodegenerative disorder characterized by the continuously progressive course that combines the signs of cerebellar ataxia, parkinsonism, pyramidal syndrome, choreoathetosis, dementia, oculomotor dysfunction, affected peripheral nerves, and autonomic failure. Differential diagnosis is hampered by late onset of the disease in adulthood and older age, low prevalence in the population, non-specific nature, and slowly emerging symptoms. The paper investigates the clinical case of olivopontocerebellar atrophy that has been extremely difficult to verify. Aim. To attract attention of physicians of different specialties, primarily neurologists, psychiatrists, general practitioners, on the issue of rare neurodegenerative disorders, which are extremely difficult to verify in adulthood and older age. Methods. Medical history of female patient М., 68 years, who stayed at psychotherapy department. Assessment of the whole body, mental, and neurological status. Results. Considering the complaints of the patient and her relatives, the data of psychological and psychiatric assessment, neurological status, brain MRI, and no response to treatment with neurological and psychotherapeutic drugs, the following probable clinical diagnosis was established: “Congenital spinocerebellar ataxia of unspecified type (olivopontocerebellar atrophy)”. Conclusion. Early diagnosis of the OPCA clinical manifestations is extremely difficult, especially in elderly individuals, since the disorder occurs under the guise of age-related vascular changes in the brain matter and manifests itself in focal symptoms and mental function impairment. The history of the signs of prominent cognitive decline and multiple focal symptoms in the elderly patient, who is not excessive drinker and has no malignant hypertension or severe atherosclerosis, as well as any other background disease, requires exclusion of the disease vascular or degenerative origin. In the reported case, the combination of cerebellar ataxia and dementia constituted the core of clinical manifestations of the neurodegenerative process confirmed by brain imaging to exclude the conversion disorder.

Introduction. Obesity is associated with a high risk of developing concomitant diseases such as: metabolic syndrome, type 2 diabetes mellitus (DM2), cardiovascular pathology. FABP4 (fatty acid binding protein) is the specific lipid chaperone and an important protein for the function of adipose tissue and is one of the adipocytokines secreted by adipose tissue.The objective of the study was to investigate the FABP4 gene expression in subcutaneous and visceral adipose tissue (SAT and VAT) in patients with obesity and DM2.Methods and materials. SAT and VAT samples were obtained during bariatric surgery (N=43, BMI>35): obese with DM2 (N=21), obese without DM2 (N=22). Samples for the control group without obesity (N=15, BMI

Introduction. Vitamin D deficiency may be an independent predictor of coronary heart disease (CHD) and the severity of coronary atherosclerosis. The results of studies of the association of various polymorphisms of the vitamin D receptor (VDR) gene with the risk and severity of CHD are contradictory, which necessitates the study of genetic variants of the VDR gene and the characteristics of the clinical course of CHD in the Russian population.The objective was to determine the distribution of genotypes of TaqI, BsmI and ApaI of polymorphic variants of the VDR gene and the level of vitamin D sufficiency in CHD patients with varying severity of CHD, residents of St. Petersburg.Methods and materials. The study included 407 CHD patients and 318 patients without clinical signs of CHD of comparable age (p>0.05). All CHD patients underwent coronary angiography. Typing of the VDR gene variants was performed by polymerase chain reaction and subsequent restriction analysis. Determination of the level of 25(OH)D blood serum was carried out by enzyme immunoassay.Results. Vitamin D deficiency was detected in 82 % of CHD patients, the content of 25(OH)D in blood serum was lower in CHD patients who had 2 or more myocardial infarctions (MI) than in those who had one MI (p=0.03). Vitamin D deficiency is associated with a 3.6-fold increased risk of multivessel disease (p=0.01). The presence of the aa genotype and the a allele (ApaI), the bb genotype and the b allele of the VDR gene (BsmI) is associated with an increased risk of CHD and the severity of atherosclerotic lesions of the coronary arteries.Conclusion. Vitamin D deficiency is typical for CHD patients and is associated with the severity of coronary atherosclerosis. The presence of aa genotype and a allele (ApaI polymorphism), bb genotype and b allele of the VDR gene (BsmI polymorphism) is associated with an increased risk of CHD and the severity of atherosclerotic lesions of the coronary arteries. TaqI polymorphism of the VDR gene is not associated with the risk of CHD.

Studies have shown that exposure to organophosphates (OPs) is associated with increased frequency of gastrointestinal diseases. In order to evaluate the effect of dysfunction of detoxification system on the development of gastrointestinal pathology, we studied «esterase status» (activity of acetylcholinesterase, butyrylcholinesterase and paraoxonase 1 (PON1)) among workers at the plants providing storage and disposal of OPs. The enzymatic activity of PON1 was significantly increased in individuals who had prolonged direct contact with the OPs. It was shown that among all gastrointestinal diseases included in this study PON1 activity was increased in patients with chronic esophagitis and chronic gastritis as compared to workers without gastrointestinal diseases (p

Objective: to estimate contribution of C(-344)T version of aldosterone synthase CYP11B2 gene in risk of metabolic syndrome (MS) and atrial fibrillation (AF) for inhabitants of the Northwest region of Russia. Material and methods: 199 patients with MS, 103 from them with AF and 267 healthy persons. Identification of C-344T gene of CYP11B2 aldosterone sinthase has been performed by means of PCR method with restriction analysis. Results: in MS carriership of TT (-344) genotype met more often than in control: 33.2 % and 24.3 %, respectively (p = 0.04). Carriership of TT (-344) genotype increases risk of MS: OR = 1.54 (95 % CI 1.03-2.32) and was not associated with an increased risk of AF. Conclusion: association of TT(-344) genotype of CYP11B2 gene with risk of metabolic syndrome for inhabitants of the Northwest region ofRussia is revealed.

Apolipoprotein A-I is a key structure protein of antiatherogenic high density lipoproteins (HDL). The aim of the study was to investigate the relationship between (-75)G/A and 83C/T polymorphic variants of apolipoprotein A-I gene (APOA1) and the plasma lipid profile in the population of Saint-Petersburg. Allele T83 of APOA1 gene was found to be associated with the reduced risk of atherosclerosis development among Saint-Petersburg inhabitants. The study demonstrates that allele T83 of APOA1 gene is associated with higher plasma HDL cholesterol levels (p