Irina I. Cherkashina

BACKGROUND: Considering the high cardiovascular risk in patients with familial hypercholesterolemia (FH), early diagnosis and treatment are the basis for the prevention of vascular accidents. In the absence of universal screening, the results of more targeted diagnostics are of interest — the search for lipid metabolism disorders in young relatives of patients with atherosclerotic vascular diseases. OBJECTIVE: To determine the effectiveness of targeted screening for identifying patients with FH, which will justify its widespread use in clinical practice. MATERIALS AND METHODS: At the start of the observational study, 584 patients were identified from the vascular centers of the Krasnoyarsk Regional Hospital, Krasnoyarsk Interdistrict Clinical Hospital No. 20 named after. I.S. Berzon, who had lipid profile data and early cardiovascular events (all forms of coronary heart diseases), including reconstructive vascular interventions up to 55 years in men and up to 60 years in women in the case of first-degree relatives and up to 50 years in second-degree relatives. The study examined patients’ relatives aged 44 years. To diagnose FH in participants aged 16 years, the scale developed by a network of Dutch lipid clinics was used; in participants aged 16 years, the S. Broome criteria were used. Targeted screening and lipid parameters in individuals with probable, possible, and definite FH were analyzed. Data processing was performed using Microsoft Excel and Statistica v. 12.0 (USA). Parametric (calculation of the median and 25th and 75th quartiles) and nonparametric (statistical significance of differences was determined using the Mann–Whitney and χ2 tests) methods were used. RESULTS: The study examined 70 children and 104 adults aged 44 years whose first- and/or second-degree relatives suffered premature vascular events. In the general group of participants, 42 (24.14%) patients had FH (of which 18 were 17 years old) and 37 (21.2%) had hyperlipoproteinemia (a). Definite FH was documented in 16 (9.1%) patients, probable in another 16, and possible in 9. Hyperlipoproteinemia (a) was found in 37 (21.2% of general group) patients, including 12 children (17.1% of pediatric group). CONCLUSION: Not more than 30% of the population are aware of the hereditary nature of lipid metabolism disorders and atherosclerotic diseases. Targeted screening is the least expensive and most effective tool for identifying patients with FH and hyperdipoproteinemia (a).

Bronchial asthma (BA) is a serious medical and social problem. Many patients with asthma have various concomitant chronic diseases, among which the pathology of the cardiovascular system occupies an important place. Most often, asthma occurs with arterial hypertension (AH). This concurrence can lead to mutual aggravation and progression of these diseases and may negatively affect the prognosis. Usually, difficulties appear when choosing the most effective therapy for BA along with hypertension. This review aimed to analyse the available publications on the problem of the combination of BA and hypertension. A review of the literature presents the summary, examines data on prevalence and indicates risk factors for the development of hypertension among patients with asthma. The coexistence of these diseases is more typical in older people. The review includes questions regarding the pathophysiology of this comorbidity. The role of impaired gas exchange and hypoxia, endothelial dysfunction, participation of the nitric oxide system and obesity in the development of hypertension in combination with asthma are highlighted. The significance of impaired nonrespiratory lung function is shown, and the inflammation features in this comorbid pathology are indicated, as well as the contribution of numerous genes to the development of asthma along with hypertension. In the literature, 330 common genes have been identified that may be involved in the molecular mechanisms of asthma and hypertension. This study shows the effect of concomitant hypertension on the course, asthma control and quality of life of the patients. In addition, the article shows modern approaches to effective therapy with the main groups of drugs used to treat these diseases. To date, studies have demonstrated the prevalence of the combination of asthma and hypertension in the structure of comorbidity, mutual influence and aggravation of these pathologies. Coexistence of BA and hypertension increases the severity of clinical symptoms. This article shows the important aspects of the treatment of a combination of diseases. The need for a thorough assessment of the safety of pharmacological therapy for BA along with hypertension has been demonstrated.

BACKGROUND: The study focused on the identification of new genetic predictors in the Russian population, particularly associations of the rs1132896 polymorphism of the matrix metalloproteinase type 2 gene (MMP-2) with the development of acute cerebrovascular accident (ACVA). OBJECTIVE: To investigate the relationship of rs1132896 gene MMP-2 polymorphisms with ACVA development. MATERIALS AND METHODS: The prospective, case–control study enrolled 318 patients with stroke (main group) and 323 controls (control group). The age of the patients in the main group ranged from 32 to 69 [57.0; 51.0–62.0] years. In the control group, the age of the patients ranged from 37 to 68 [55.0; 51.0–62.0] years, which was comparable to that of the main group. Sexual dimorphism was as follows: 191 men (age [56.5; 51.0–62.0]) and 127 women (age [57.0; 51.0–62.0]). The sex composition in the control group corresponded to that in the main group: 214 men (age [55.0; 51.0–62.0]) and 109 women (age [55.0; 51.0–62.0]). The main group underwent clinical examination, computed tomography of the brain, electrocardiography, echocardioscopy, duplex ultrasound scanning of the extracranial brachiocephalic arteries, 24-h monitoring of blood pressure and heart rate, and analysis of the blood coagulation system. Molecular genetic research was conducted at a branch of the Institute of Cytology and Genetics of the Siberian Branch of RAS (Novosibirsk). All patients provided written informed consent to participate voluntarily in the study. The duration of the study was 3 years, starting in 2019. The primary study endpoint was a diagnosis of stroke, verification of concomitant cardiovascular pathology, and risk factors for stroke development. Statistical processing of the results was performed using SPSS Statistics v. 22 (IBM Corp., USA) and MedCalc 22.006 (Microsoft, USA). When comparing extended variables, the Mann–Whitney U-test was used. Discrete values were compared using Pearson’s χ2 test. RESULTS: When analyzing statistical significance, a predominance of the homozygous CC genotype was recorded in the group of male patients with stroke: n=24 (12.6%) vs n=20 (9.3%; p=0.0324). In addition, in the group of women, a statistically significant predominance of the heterozygous CG genotype was noted in women with stroke: n=67 (52.8%) vs n=42 (38.5%; p=0.0420). CONCLUSION: The homozygous CC genotype in men and the heterozygous CG genotype in women may be genetic predictors of the development of ACVA. The study of genetic factors in the development of ACVA is necessary to create a personalized approach to patient management at the outpatient and inpatient stages of medical care.

Rehabilitation of patients with spinal muscular atrophy (SMA) is a long-term strategy of healthcare service of Russian Federation, which is aimed at slowing down the progression of the pathological process, maximal reduction of disability and improving patients’ quality of life. The development of targeted programs of medical rehabilitation for patients with SMA, aimed at the reduction of the disease’s main symptoms, is relevant. Objective. To develop and scientifically establish therapeutic effects of complex medical rehabilitation of type II and III SMA patients. Material and methods. A prospective comparative study of the therapeutic effects of rehabilitation techniques, including 50 patients aged from 1.3 to 15.3 (average age 7.2±2.4 years) with type II and III SMA (ICD-10: G12), was done. Examined set included 32 patients with type II SMA and 18 patients with type III SMA. In patients of both groups had targeted rehabilitation programs (kinesiotherapy, mechanotherapy, splinting, use of spinal support, electric neurostimulation). Status of patients was determined by functional, instrumental and sociomedical research methods, the results of which were adequate statistically analyzed. Results. The comprehensive medical rehabilitation of patients with SMA demonstrated significant therapeutic effects with such manifestations as improvement of clinical status, stabilization and increase in joint motion, improvement of motor function of limbs’ muscles, head and neck. Medical rehabilitation reduces the degree of disability, increases rehabilitation potential and the need for the technical means of rehabilitation in patients with type II and III SMA. Rehabilitation techniques help to achieve the main aim of rehabilitation — independence in daily living — for 15% of patients with type II SMA and for 22% of patients with type III SMA. Conclusion. Medical rehabilitation of patients with type II and III SMA forms significant locomotor-corrective and vertebral-corrective therapeutic effects.

The objective: exploring the frequency of circulation of genotypes and alleles of rs2227983 polymorphism of EGFR gene among patients with allergic bronchial asthma with various levels of control.Subjects and Methods. The study includes adult individuals (n = 396) divided into two groups: Group 1 (main) – individuals with allergic bronchial asthma (ABA), Group 2 is a control one. ABA Group consisted of 179individuals (118 women и 61 men) aged 37.4 ± 14.2 years. Control Group consisted of 217 individuals (110 women и 107 men) aged 30.0±9.1years. All subject included in ABA Group and Control Group underwent molecular genetic tests for rs2227983 polymorphism of EGFR gene using polymerase chain reaction.Results. The comparison of distribution of gene EGFR genotypes showed statistically significant predominance of genotype AGcarriers in the group of patients with ABA (48.6%), versus Control Group (36.9%); p < 0.05. Besides that, there is a predominance of number of carriers of heterozygote genotype АG of EGFR gene among patients with ABA (57.7%) with a controlled course of the disease versus Control Group (36.9%); p < 0.05. Also, it has been found out that rs2227983 genotype of EGFR gene was more frequent in women with controlled ABA (67.4%) compared to women from Control Group (32.7%); p < 0.05.Conclusion. The results of the conducted study allowed analyzing the connection of single nucleotide rs2227983 polymorphism ofEGFR gene with ABA including various levels of control of the course of the disease. Genotype АG of single nucleotide polymorphism rs2227983 of EGFR gene increases the risk of developing ABA. Alongside this, АG genotype of EGFR gene is correlated with the controlled course of ABA.

The problem of timely diagnosis and proper management of patients with cystic fibrosis is crucial not only in our country, but throughout the world. Experts of the Union of Pediatricians of Russia have considered various issues of etiology, pathogenesis, epidemiology, diagnosis, and treatment of this genetic disease in a modern light. Particular attention was paid to screening methods for early diagnosis of cystic fibrosis. The principles of complex therapy were justified, including rational use of antibacterial and mucolytic drugs and enzyme replacement therapy that significantly determine the disease prognosis.

The objective of the study: to study rs2227983 polymorphism of EGFR gene in patients with allergic asthma and healthy individuals.Subjects and Methods. 179 patients suffering from allergic asthma were included in the study. The diagnosis and degree of severity were established in accordance with the GINA recommendations. The Control Group included apparently healthy individuals (n = 217). Patients with allergic asthma underwent standard laboratory and instrumental examinations and DNA typing.Results. A statistically significant predominance of AG genotype frequency in the group of patients with allergic asthma, including women, versus the group of healthy individuals, was established. AG rs2227983 genotype of EGFR gene was found to be significantly more common in patients with mild and moderate allergic asthma including women, than in healthy individuals, including women.Conclusion. The association of rs2227983 polymorphism of EGFR gene with allergic asthma has been established. A homozygous GG genotype may play a protective role against the disease.