scholarly journals Association of vascular endothelial growth factor B (VEGFВ) gene polymorphisms with intracranial aneurysms

2019 ◽  
Vol 22 (8) ◽  
pp. 992-999
Author(s):  
R. I. Sultanova ◽  
R. I. Khusainova ◽  
E. R. Lebedeva ◽  
M. A. Yankina ◽  
D. V. Gilev ◽  
...  
Keyword(s):  
Subarachnoid Hemorrhage ◽  
Connective Tissue ◽  
Intracranial Aneurysm ◽  
Arterial Hypertension ◽  
Ural Region ◽  
Increased Risk ◽  
Symptom Complex ◽  
Connective Tissue Dysplasia ◽  
Polymorphic Variants ◽  
Volga Ural Region

Intracranial aneurysm (IA) is a complex disease resulting in subarachnoid hemorrhage (SAH) due to a rupture. The average worldwide prevalence of this disease is about 2–5 %, with 50 % of them ending in death or neurological disorders of varying severity, with a high probability of recurrence of hemorrhage during the frst half of the year after rupture. Subarachnoid hemorrhage is annually registered in at least 18 thousand people in Russia. Associations of polymorphic variantsrs594942andrs11603042of theVEGFBgene in intracranial aneurysm development in the Volga-Ural region of the Russian Federation with the presence of the symptom complex of undifferentiated connective tissue dysplasia (uDST) and arterial hypertension (AH) were investigated. TheC* allelers594942andrs11603042of theVEGFBgene is a marker of an increased risk of IA as a whole (p= 0.025; χ2 = 5.052; OR = 1.32) in women as a whole (p= 0.001; χ2 = 10.124; OR = 1.70) and in comorbid state with uDCT (p= 0.002; χ2 = 9.501; OR = 2.34) and AG (p= 0.006; χ2 = 7.385; OR = 2.109). We found that the genotype *C*Cof locusrs594942of theVEGFBgene is a marker of an increased risk of intracranial aneurysm in general (p= 0.017; χ2 = 5.702; OR = 1.49) and among women in general (p= 0.0005; χ2 = 12.078; OR = 2.25) and with the symptomatic complex uCTD (p= 0.007; χ2 = 7.173; OR = 2.67) and AH (p= 0.010; χ2 = 6.471; OR = 2.51). We have obtained new results on the role of polymorphic variants of theVEGFBgene in the formation of intracranial aneurysm, taking into account the presence of the symptom complex uDCT and AH among the residents of the Volga-Ural region of Russia. A burdened comorbid background and the presence of undifferentiated connective tissue dysplasia and arterial hypertension can contribute to an increased risk of intracranial aneurysm, as evidenced by the results of our study.

scholarly journals The role of polymorphic variants of matrix metalloproteinases genes in the formation of disruption of connective tissue homeostasis and pathology of the musculoskeletal system.

2018 ◽  
Vol 96 (8) ◽  
pp. 754-761
Author(s):  
A. V. Tyurin ◽  
D. A. Shapovalova ◽  
L. Z. Lukmanova ◽  
V. B. Golubyatnikov ◽  
B. A. Bakirov ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Polymorphic Locus ◽  
Age Groups ◽  
Study Groups ◽  
Ethnic Origin ◽  
Joint Hypermobility ◽  
Clinical Genetic ◽  
Symptom Complex ◽  
Connective Tissue Dysplasia ◽  
Polymorphic Variants

A clinical assessment of the presence of osteoarthritis (OA) with various localizations, undifferentiated connective tissue dysplasia (uCTD) and joint hypermobility (JHM) in 484 individuals of both sexes of different age groups was carried out. We searched for associations of 4 polymorphic variants of matrix metalloproteinase genes (rs35068180 (MMP3), rs2252070 (MMP13) ), rs226794 and rs2830585 (ADAMTS5)) with the development of osteoarthrosis as a whole, taking into account the localization of the pathological process, the age of the patients, the ethnic origin of the study groups and the presence of undifferentiated connective tissue dysplasia as a whole and its individual phenotypic markers, as well as in the comorbid state with osteoarthritis was carried out. 158 patients had osteoarthritis, 252 had a symptom complex of uCTD, 92 of them were in the comorbid state with OA. The significance of the polymorphic loci of MMP3, MMP13, ADAMTS5 genes in the formation of the symptom complex of uCTD in general and its individual phenotypes was detected. The polymorphic locus of MMP3 gene was associated with OA in the comorbid state with uCTD. Statistically significant models based on clinical-genetic data using the method of multiple logistic regression, that allow predicting the development of osteoarthrosis of knee, hip joints and polyosteoarthrosis were calculated.

Diagnostic value of assessment of coronary calcification in dysplastic heart

2021 ◽  
Vol 19 (1) ◽  
pp. 75-77
Author(s):  
L. T. Pimenov ◽  
◽  
V. V. Remnyakov ◽  
M. Yu. Smetanin ◽  
E. N. Avdeev ◽  
...  
Keyword(s):  
Connective Tissue ◽  
System Development ◽  
Heart Diseases ◽  
Coronary Calcification ◽  
Diagnostic Value ◽  
Conduction Disorders ◽  
Increased Risk ◽  
Structural Heart Diseases ◽  
Connective Tissue Dysplasia ◽  
Functional Features

The problem of heart connective tissue dysplasia syndrome is extremely relevant due to the increased risk of rhythm and conduction disorders, infectious endocarditis, thromboembolism and sudden cardiac death (SCD). Structural heart diseases (SHD) are manifestations of minor anomalies of the cardiovascular system development. Dysplastic heart refers to the combination of constitutional, topographical, anatomical, and functional features of the heart in a patient with connective tissue dysplasia (CTD). The standard for the diagnosis of coronary calcification (CC), one of the known predictors of coronary heart disease (CHD) and complications of cardiovascular diseases (CVD), is multispiral computed tomography (MSCT).

scholarly journals Investigating the role of osteoprotegerin gene polymorphic variants in osteoporosis

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Bulat I. Yalaev ◽  
Anton V. Tyurin ◽  
Regina Y. Mirgalieva ◽  
Elza K. Khusnutdinova ◽  
Rita I. Khusainova
Keyword(s):  
Bone Mineral Density ◽  
Femoral Neck ◽  
Bone Mineral ◽  
Ural Region ◽  
Genome Wide Association Studies ◽  
Mineral Density ◽  
Men And Women ◽  
Polymorphic Loci ◽  
Polymorphic Variants ◽  
Volga Ural Region

In recent genome-wide association studies (GWAS), several polymorphic loci of the osteoprotegerin (OPG) gene were significantly associated with bone mineral density (BMD) and fractures in men over 50 years of age and postmenopausal women. The objective of our study was to search for associations of rs3102735, rs3134069, rs2073617, rs2073618, rs3102734 and rs7844539 of the OPG gene with the risk of osteoporotic fractures and the level of BMD in individual and comorbid conditions in men and women from the Volga-Ural region of Russia. Material and Methods — 828 women and 496 men of various ethnic groups (Russians, Turks) were examined using two-energy x-ray absorptiometry (DEXA) in the femoral neck and lumbar spine. 1324 deoxyribonucleic acid (DNA) samples were genotyped using a fluorescent endpoint genotyping system, after that we searched for associations of these polymorphic loci with fractures and low BMD levels of various localizations. As a result, there was a significant association of rs3134069 and rs3102734 with fractures in general and in the peripheral parts of the skeleton, as well as rs7844539 and rs3102734 in women and rs2073618 in men with low BMD. Another significant association of rs3102734 and rs2073618 with low bone mineral density in the femoral neck was found in both genders. Conclusion — Polymorphic variants rs3134069, rs3102734, rs7844539 and rs3102734 are potential markers of the risk of osteoporetic fractures and the formation of low BMD in men and women from the Volga-Ural region of Russia.

The structure and prevalence of dento-maxillary anomalies and deformations in adolescents with hereditarily caused pathology

2021 ◽  
pp. 22-31
Author(s):  
F. V. Samedov ◽  
R. D. Yusupov ◽  
Yu. S. Harutyunyan ◽  
T. A. Kondratyeva ◽  
D. A. Domenyuk
Keyword(s):  
Connective Tissue ◽  
Negative Impact ◽  
Pediatric Population ◽  
Control Group ◽  
Objective Criterion ◽  
Dental Patients ◽  
General Pathology ◽  
Flat Feet ◽  
Symptom Complex ◽  
Connective Tissue Dysplasia

The high frequency of connective tissue dysplasia (CTD) in the pediatric population, its negative impact on the course of diseases of the dentoalveolar system predetermine the need to make additions to the standards of diagnosis and treatment of this category of patients. Depending on the severity of external phenotypic manifestations and laboratory, clinical and instrumental signs, among 114 adolescents 12–16 years old with general pathology, as well as the clinical symptom complex of CTD, groups with mild, moderate and severe undifferentiated dysplasia were formed. The control group consisted of 37 adolescents of the I and II health groups, matched by sex and age. The first stage of CTD diagnostics involves the identification and scoring of external dysplastic signs, the second stage of diagnostics includes an indepth clinical and instrumental examination to identify visceral CTD manifestations. It was found that the prevalence of dentoalveolar anomalies and deformities in combination with signs of undifferentiated connective tissue dysplasia in adolescence exceeds the frequency of detecting dentoalveolar anomalies and deformities in children of the control group by 1.4–10.9 times. It has been proven that the most informative phenotypic signs in patients with CTD and occlusive disorders are stigmas from the maxillofacial region (anomalies in the position of the teeth, high (Gothic) palate, deformation of the Spee occlusal curve, narrowing and deformation of the dentition, anomalies of attachment of the frenum of the tongue and lips ), bone-skeletal (hypermobility of joints, flat feet, clinodactyly, osteochondrosis, poor posture, anomalies of the skull, deformities of the limbs and chest), ectodermal (hyper-extensibility of the skin, thin, easily injured skin) and muscle (hypotonia of muscles). The presence of at least six informative dysplastic signs in dental patients is an objective criterion for an unclassified CTD phenotype.

scholarly journals Association between miRNA Target Sites and Incidence of Primary Osteoarthritis in Women from Volga-Ural Region of Russia: A Case-Control Study

Diagnostics ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1222
Author(s):  
Anton Tyurin ◽  
Daria Shapovalova ◽  
Halida Gantseva ◽  
Valentin Pavlov ◽  
Rita Khusainova
Keyword(s):  
Ethnic Groups ◽  
Mirna Target ◽  
Ural Region ◽  
Specific Pcr ◽  
Target Sites ◽  
Allele Specific ◽  
Polymorphic Variants ◽  
Allele Specific Pcr ◽  
Volga Ural Region ◽  
Control Study

Over the past decades, numerous studies on the genetic markers of osteoarthritis (OA) have been conducted. MiRNA targets sites are a promising new area of research. In this study, we analyzed the polymorphic variants in 3′ UTR regions of COL1A1, COL11A1, ADAMTS5, MMP1, MMP13, SOX9, GDF5, FGF2, FGFR1, and FGFRL1 genes to examine the association between miRNA target site alteration and the incidence of OA in women from the Volga-Ural region of Russia using competitive allele-specific PCR. The T allele of the rs9659030 was associated with generalized OA (OR = 2.0), whereas the C allele of the rs229069 was associated with total OA (OR = 1.43). The T allele of the rs13317 was associated with the total OA (OR = 1.67). After Benjamini-Hochberg correction, only rs13317 remained statistically significant. According to ethnic heterogeneity, associations between the T allele (rs1061237) with OA in women of Russian descent (OR = 1.77), the G allele (rs6854081) in women of Tatar descent (OR = 4.78), the C allele (rs229069) and the T allele (rs73611720) in women of mixed descent and other ethnic groups (OR = 2.25 and OR = 3.02, respectively) were identified. All associations remained statistically significant after Benjamini-Hochberg correction. Together, this study identified miRNA target sites as a genetic marker for the development of OA in various ethnic groups.

scholarly journals Exercise tolerance and physical activity in children with most common cardiovascular diseases

2020 ◽  
Keyword(s):  
Physical Activity ◽  
Nervous System ◽  
Connective Tissue ◽  
Arterial Hypertension ◽  
Cardiovascular System ◽  
The Body ◽  
Functional Capabilities ◽  
Adaptive Capabilities ◽  
Doppler Study ◽  
Connective Tissue Dysplasia

The cardiovascular system is actively involved in the adaptive reactions of the body. The deterioration of adaptive processes decreases the functional capabilities of the heart. Arterial hypertension is often known as the main cause of fatal cardiovascular events in adults. The aim of our study was to determine the adaptive capabilities of the cardiovascular system of adolescents with non-inflammatory cardiomyopathies depending on physical activity’s level. There were examined 92 patients with arterial hypertension and connective tissue dysplasia, the mean age was 15,4 ± 1,33 years. In order to study tolerance to the minimum physical activity and its influence on the state of the cardiovascular system in children, the Ruffier test was conducted. The vegetative reactions of central nervous system were performed by the orthostatic test. The functional state of the myocardium was assessed according to the results of the ultrasonic Doppler study of the heart. As a result of the study, it was found that in connective tissue dysplasia and arterial hypertension adaptation mechanisms were affected, accompanied by a weakening of cardiac functional capabilities. This happens against the background of a decrease in the functioning of the left ventricle. These changes are accompanied by hyperactivation of the autonomic nervous system in patients in the studied groups. The physical activity and physical development of children affect the adaptive capabilities of a growing organism. This is due to the fact that the children in group with AH and CTD were less physically active than children without myocardial pathology. Adolescents who showed the reduced results of Ruffier's test and had regular sports sections need change of a mode of training and further inspection.

scholarly journals Identification of a mutation in the polycystin 1 gene in a patient with intracranial aneurysm

2020 ◽  
pp. 79-80
Author(s):  
Р.И. Султанова ◽  
Э.К. Хуснутдинова ◽  
Р.И. Хусаинова
Keyword(s):  
Subarachnoid Hemorrhage ◽  
Nucleotide Sequence ◽  
Connective Tissue ◽  
Intracranial Aneurysm ◽  
Connective Tissue Disease ◽  
Sequence Change ◽  
Pkd1 Gene ◽  
Subarachnoid Hemorrhages

Интракраниальная аневризма - заболевание соединительной ткани многофакторной природы, приводящее к спонтанным субарахноидальным кровоизлияниям. Обнаружено ранее неописанное изменение нуклеотидной последовательности гена PKD1 в гетерозиготном состоянии c.6847G>A с патогенной значимостью у пациентки с субарахноидальным кровоизлиянием. Intracranial aneurysm is a multifactorial connective tissue disease leading to spontaneous subarachnoid hemorrhages. It was identified undescribed heterozygous nucleotide sequence change of the PKD1 gene c.6847G>A in patient with subarachnoid hemorrhage with pathogenic significance.

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