[Personalized Risk Assessment of Adverse Cardiovascular Events in Young Patients With Connective Tissue Dysplasia].

Adverse cardiovascular manifestations (ACVM) were registered during 7-year follow-up of young patients with undifferentiated connective tissue dysplasia (CTD). ACVM developed in 28.42% of patients. Most frequent ACVMs were extension/aneurysm of the thoracic aorta (10.75%), cerebral vascular syndrome (10.56%), and arrhythmias (9.11%). Most significant risk factors for extension/aneurysm of the aorta were pathology of vertebral arteries, common risk factors (arterial hypertension, alcohol/drugs, smoking, heavy physical work, sports activities), bicuspid aortic valve); for pathology of cerebral vessels--completely open Willis' Circle, pathology of vertebral arteries, CTD related changes of skin and spine, diagnostic CTD coefficient > 23, chronic diseases of veins; clinically significant cardiac rhythm disturbances--combined valve manifestations of CTD, myxomatous degeneration of heart valves, pathology of the aorta, male sex, metabolic changes of the myocardium, deviations of circadian index, predominance of sympathetic tone, and diastolic dysfunction. Analysis of clinical characteristics (age, symptoms and severity of CTD, QTc dispersion ≥ 50 ms) and presence of unfavorable genetic polymorphisms in ß1-adrenergic receptor gene (Ser49Gly, rs1801252), transcription factor Sp4 gene (A80807T, rs1011168), genes of matrix metalloproteinases type 3 (5A/6A) and type 9 (8202 A/G) allowed to evaluate overall risk of ACVM.

[Clinical variations of chronic generalized periodontitis, genetic polymorphism and systemic production of inflammatory cytokines].

Carriage of polymorphic alleles of genes of cytokines-interleukines IL-1ß, IL-1RN, TNFα, IL-4 can be a specific feature of chronic periodontitis patients. Genetic tests can be used to predict the course of the disease at its early manifestations. Objective: To establish the relationship of clinical manifestations of periodontal disease, inflammatory cytokines gene polymorphism and systemic levels of cytokine production. Periodontal tissue assessment and cone-beam computed tomography (CBCT) were performed in 150 periodontitis patients. A molecular--genetic testing for the presence of polymorphic alleles of genes IL-1ß -511 C>T and +3953 C>T, IL-1RN (VNTR intron 2), IL-4 (VNTR intron 3), TNFα-308 G>A; content determined IL-1ß, TNFα, IL-4 in peripheral blood was carried out in 150 patients with periodontitis and 150 healthy donors. Based on the analysis of the speed and nature of the supporting bone resorption and clinical manifestations patients are divided in "aggressive", "moderately progressive" and "slowly progressive" periodontits course groups. Disease severity was associated with distribution of genotypes and alleles of polymorphic genes cytokine IL-1RN (VNTR intron 2), TNFα-308 G>A and IL-4 (VNTR intron 3); haplotype IL-1ß-511 TIL-1ß +3953 T/IL-1RN 2R. There was no statistically significant difference in systemic level of IL-1ß, TNFα and IL-4 between periodontitis groups but the donor level of cytokines was 2-4 times less.

[Reactive changes of human gastric mucosa infected with Helicobacter pylori in the aspect of genetic characteristic of host inflammatory response].

The aim of this study was to determine the morphological changes of human gastric mucosa infected with Helicobacter pylori (HP) depending on polymorphism of the genes coding both interleukin-1beta and interleukin-1 receptor antagonist. 106 juveniles with HP-induced chronic gastritis were studied along with 44 juveniles with gastritis, not associated with HP. In patients with HP-associated gastritis, the significant increase in epithelial proliferation and apoptosis indexes was observed. Epithelium proliferation zone was expanded in the direction of surface foveolar epithelium and into the depth of glands; pronounced lympho-plasma cell infiltration of mucosal lamina propria was observed. Cytokine gene polymorphisms were evaluated by PCR. The results suggest an association between more pronounced inflammation of gastric mucosa with the T allele of interleukin-1beta C -511 C > T gene polymorphous locus (Chi2 = 14.006; p = 0.001). No association was found of the interleukin-1beta C +3953 T gene and the variable number of tandem repeats in the 2nd introne of interleukin 1 receptor antagonist gene with morphological changes in the gastric mucosa.

[Polymorphism of cytokine genes in the development of Helicobacter pylori infection].

The purpose of this work was to study morphological features of gastric mucosa depending on polymorphism of IL-l1beta and IL-1RN genes in children with chronic gastritis infected with different strains of Helicobacter pylori 0. We examined 106 children with HP-associated gastritis. The results suggest association of mucosal inflammation with T allele in polymorphous C-511T locus of IL-1beta (beta2 = 14,006; alpha = 0.001). agA + strains of HP were more frequently identified in patients with erosive ulcerative defects of gastric mucosa than in children with superficial gastritis (p < 0.05). The possibility of gene typing to form a group of patients with the unfavourable post-eradication clinical course for the prevention of duodenal ulcer and stomach cancer is discussed.