Organomodified silica (ORMOSIL) nanoparticles (NPs) are considered as promising nanocarriers for targeted drug and gene delivery. In the present study, we describe the process of synthesis of ORMOSIL NPs of different size (3 and 150 nm). The data showing the lack of systemic toxicity of ORMOSIL NPs after their intravenous administration are also presented. Investigation of ORMOSIL NP biodistribution and bioelimination demonstrated that these nanocarriers are not accumulated in the reticulo-endothelial system organs and are rapidly excreted from the organism through the kidney.

This article, based on Russian newspapers and magazines of the end of 1886, considers the suicide of the well-known surgeon professor S.P. Kolomnin and the social reaction to it.

The article concerns the main pathophysiological mechanisms of adhesion forms of endothelial dysfunction and ways of pharmacological correction of disorders adhesion activity of the endothelium in atherosclerosis.

Monogenic diabetes includes neonatal diabetes and MODY. Often monogenic diabetes initially can be diagnosed as type 1 or type 2 diabetes. However, making of the correct diagnosis is required for changing of therapy and genetic counseling of family members. In this article the own clinical observations of two families with MODY 3 are presented. Confirmation of genetic mutation in HNF-1a gene leads to early diagnostics of diabetes and prevention of microvascular complications in some family members and explanation of some associated clinical features in this patients.

Identification of microorganisms in most clinical microbiology laboratories until recently was based predominantely on phenotypic methods. The “golden standard” of identification, which is sequencing of the “house-keeping” genes of microorganisms was introduced in practice in 2008, though still is not widespread. Development of the matrix-assisted laser desorbtion-ionization time-of-flight mass spectrometry (MALDI-TOF MS) has dramatically changed the approach to the routine identification of microorganisms. The method is characterized by high output, effectiveness and low price. Use of standard MALDI-TOF MS procedures allows correct identification to the species level in most clinically important bacteria. This technology analyses spectral characteristics of significant number of proteins, mostly ribosomal, that present the unique “fingerprint” of a specific microorganism. MALDI-TOF routine yeast identification appeared to be also highly effective.

Review presents the current data on the genome organization of the hepatitis C virus intergenotypic recombinants, the peculiarities of genetic determinants potentially involved in the interferon resistant phenotype, summarizes the antiviral therapy outcomes for patients infected by hepatitis C virus recombinants.

Culture-negative endocarditis remains a diagnostic and therapeutic challenge despite recent medical advances. Coxiella burnetii, the causative pathogen of Q-fever, weight with etiological structure of infective endocarditis. However, laboratory diagnosis is often underinformative, because the growth of C. burnetii in hemoculture is difficult and serological response can be paradoxical. The difficulties of diagnostic at Q-fever endocarditis motivate the consideration of the epidemiological characteristics and pathogenesis of Q-fever. These insights should help redefine preventive and therapeutic strategies against infective endocarditis.

The review is devoted to the problem of schizophrenia genetics. The studies aimed at testing the most feasible hypotheses of a common genesis of schizophrenia and the lateralization in the human brain are considered. Particular attention is given to the searches of mutations in genes associated with functional and morphological asymmetry of the brain.

The aim of the study. Investigate the state of the plasma hemostasis in patients with thyroid disease and different levels of thyroid function. Material and methods. The study included 68 patients with thyroid disease, divided into three groups based on the functional state of the thyroid gland: 31 patients with hypothyroidism, 17 patients with diffuse toxic goiter with manifestations hyperthyroidism, 20 patients in euthyroid (nodular nontoxic goiter). All patients underwent detailed coagulation hemostasis on an automated analyzer STA Compact (Roche) reagents company «Diagnostica Stago» before treatment and on the background of therapy. Results. In patients with hypothyroidism showed a significant decrease in the activity of Factor VIII, concentration of von Willebrand factor antigen, aPTT prolongation. In patients with hyperthyroidism showed a significant increase in the activity of factor VIII, concentration of D-dimer, activity of antithrombin. Conclusions. In patients with hypothyroidism there is a reduction in the total procoagulant activity with the formation of acquired von Willebrand syndrome. In patients with hyperthyroidism, hypercoagulation occurs.

Objective. Several desmin mutations have been described over the past years in patients with dilated and restrictive cardiomyopathy, often in association with distal myopathy. However, the role of desmin mutations as a cause of various types of cardiomyopathy is still undetermined. The aim of this study was to analyse the frequency of desmin mutations in patients with dilated, hypertrophic and restrictive cardiomyopathy identified and diagnosed in the St. Petersburg area of Russia. Material, methods and results. We screened 98 patients with dilated, 40 with hypertrophic and 20 with restrictive cardiomyopathy. All exons of the desmin gene were amplified by PCR and studied by sequencing. Two of 98 patients with dilated cardiomyopathy and 1 patient with restrictive cardiomyopathy showed the presence of desmin gene mutations, not previously described. An A213V shift, suspected to represent a conditional mutation, was associated with a case of late-onset dilated cardiomyopathy. Functional studies confirmed mild structural defect caused by A213V variant and revealed by desmin and vimentin staining. No desmin mutations were found in patients with hypertrophic cardiomyopathy. We conclude that desmin mutations should be considered a relatively rare cause of dilated and restrictive cardiomyopathy. Rare desmin variant A213V causes mild structural defect on intracellular intermediate filament network.

Objective. To define relation rs9939609 FTO gene polymorphism, rs1225537 TCF7L2 gene polymorphism, relative telomere length with cardiovascular diseases and metabolic disorders in survivors of Siege of Leningrad who lived in the besieged city in the early childhood. Material and methods. During period from December 2009 to May 2012 305 survivors of Leningrad Siege (64-81 years) and two control group: first group (n = 47, 67-82 years) and second group (n = 440, 25-64 years) were examined. All participants were interviewed regarding risk factors, cardiovascular diseases and therapy. Blood pressure (BP) measurement, anthropometry, echocardiography, electrocardiography were performed according to standard guidelines. Fasting serum lipids and plasma glucose were measured. Relative telomere length was measured by quantitative PCR and the ratio of telomere repeat copy number to single gene copy number (T/S) was calculated for each DNA sample. Rs1225537 TCF7L2 gene polymorphism and rs9939609 FTO gene polymorphism was determined by real-time PCR with allele-specific primers. Results. Survivors had lower anthropometric parameters and higher HDL level. There were no significant differences in the prevalence of cardiovascular diseases and target organ damage between groups, even prevalence of atrial fibrillation was slightly higher in the control group. However, survivors have shorter telomere length T/S ratio 0,44 [0,25; 0,64] versus controls 0,91 [0,47; 1,13] (p < 0,0001) both in males and females with clear association with the period of famine in early life. Analysis of prevalence of FTO and TCF7L2 genotype and allele frequencies did not reveal their significant differences in the control group versus the group Siege of Leningrad survivors. In the Siege of Leningrad survivors group TT genotype of rs9939609 FTO gene polymorphism was significantly more frequent in the group with low birth weight (less than 2500 g) versus the group with normal birth weight, χ² = 6,2, p = 0,04. Relation of TT genotype and weight at the age of 65-80 years was not recorded. Conclusions. Early life famine among those who survived to the age over 70 years is associated with telomere shortening in both genders but not with cardiovascular diseases and target organ damage. The influence of other genes associated with the risk of obesity and type 2 diabetes, also leveled after seven decades after the Siege of Leningrad.

Objective. We aimed to estimate allele frequency and association of the genetic marker TCF7L2 gene (T-risk allele of rs1225537 SNP of TCF7L2 gene) with hyperglycemia, lipids and abdominal obesity in Saint-Petersburg residents. Materials and Methods. As a part of all-Russian epidemiology survey ESSE-RF, random sampling of 1600 Saint-Petersburg inhabitants stratified by age and sex was involved. All subjects signed informed consent and filled in questionnaire regarding lifestyle risk factors. Anthropometry (weight, height with body mass index (BMI) calculation, waist circumference), blood pressure (BP) and heart rate measurement and fasting blood-tests (lipids, glucose (Abbott Architect 8000, Roche Diagnostics) were performed. Genomic DNA was extracted from blood samples using magnetic bead technology. The TCF7L2 polymorphism rs1225537 was determined using real time PCR method by allele-specific probes (Applied Biosystems). Results: Female carriers of T allele (TT + GT genotypes) had tendency to have higher cholesterol level (5,6 ± 1,3 mmol/l; 5,4 ± 1,3 mmol/l; p = 0,04) compared to females with GG genotype. Among females carriers of T allele only hyperglycemia was observed more frequently compared with female carriers of G allele. The frequency of T- risk allele was 22,6 %. Conclusions: The TCF7L2 genetic variant rs1225537 is associated only with hyperglycemia in Saint-Petersburg residents. The frequency of T allele in Saint-Petersburg residents is the same as in general population (20 %).