POLYMORPHISM OF GENE IL2-330Т>>G AND EXPRESSION OF INTERLEUKIN-2 IN PATIENTS WITH VENOUS THROMBOEMBOLIC COMPLICATIONS OF POLYTRAUMA

2017 ◽  
Author(s):  
А. Мироманов ◽  
В. Доржеев ◽  
Н. Мироманова ◽  
Ю. Витковский
Keyword(s):  
Molecular Genetic ◽  
Interleukin 2 ◽  
Clinical Manifestations ◽  
Molecular Genetic Analysis ◽  
Control Group ◽  
Thromboembolic Complications ◽  
Inclusion Criteria ◽  
Study Results ◽  
Venous Thromboembolic ◽  
Analysis Point

Введение. Политравма отличается особой тяжестью клинических проявлений, сопровождается значительным нарушением жизненно важных функций организма, трудностью диагностики и лечения, частым развитием разнообразных осложнений, длительным периодом пребывания в стационаре и высокой инвалидизацией. Тромбоэмболические осложнения при политравме встречаются в 40–77% случаев и характеризуются скрытым клиническим течением, трудностью лечения и высокой летальностью. Цель исследования. Изучить влияние полиморфизма гена IL2-330T{>{G на экспрессию интерлейкина-2 (IL-2) у пациентов с венозными тромбоэмболическими осложнениями (ВТЭО) политравмы в Забайкальском крае. Материалы и методы. В исследование включено 114 пациентов (71,9% мужчин и 28,1% женщин) в возрасте от 20 до 40 лет с политравмой. Критерий включения в исследование: политравма с индексом по шкале ISS более 9. Первая группа — 73 пациента с неосложнённым течением политравмы, вторая группа — 41 пациент с ВТЭО политравмы. Контрольную группу составили 100 практически здоровых мужчин и женщин в возрасте от 20 до 40 лет. Материалом для молекулярно-генетического анализа служили образцы ДНК, выделенные из периферической крови. Для исследования выбрана точковая мутация IL-2 в позиции 330 (Т{>{G). Результаты. У пациентов с ВТЭО политравмы регистрировали более частое носительство генотипа -330T/T гена IL2; наличие этого генотипа сопровождалось увеличением продукции IL-2. Заключение. Идентификация генов и раскрытие их влияния на экспрессию кодируемых молекул способствует более глубокому пониманию патогенетических механизмов развития осложнений. Introduction. Polytrauma is characterized by a specifi c severity of clinical manifestations, is accompanied by a signifi cant impairment of vital body functions, the diffi culty of diagnosis and treatment, frequent development of various complications, prolonged period of hospitalization and high disability. Thromboembolic complications of polytrauma occur in 40–77% of cases and characterized by latent clinical course, diffi culties in treatment and high mortality. The aim was to study the eff ect of gene IL2-330T{>{G polymorphism on the expression of interleukin-2 (IL-2) at patients with venous thromboembolic complications (VTE) of polytrauma in Zabaykalskiy Krai. Materials and methods. The study included 114 patients (71,9% men and 28,1% women) with polytrauma aged from 20 to 40 years. Inclusion criteria: polytrauma with index according ISS scale more than 9. First group — 73 patients with uncomplicated polytrauma, second group — 41 patients with VTE of polytrauma. Control group consisted of 100 practically healthy men and women aged from 20 to 40 years. DNA samples isolated from the peripheral blood were the material for molecular genetic analysis. Point mutation of IL-2 at position 330 (T{>{G) was selected for study. Results. Genotype -330T/T of IL2 gene was registered more frequently at patients with VTE of polytrauma; the presence of this genotype was accompanied by increased production of IL-2. Conclusion. Identifi cation of genes and their eff ects on the expression of encoded molecules assists more overall understanding of pathogenetic mechanisms of complications development.

scholarly journals Detection of malignant neoplasms procoagulant activity

2016 ◽  
Vol 97 (2) ◽  
pp. 212-216
Author(s):  
I A Kamalov ◽  
R S Kurtasanov
Keyword(s):  
Inferior Vena ◽  
Ultrasound Examination ◽  
Vena Cava ◽  
Clinical Manifestations ◽  
Main Group ◽  
Procoagulant Activity ◽  
Control Group ◽  
Malignant Neoplasms ◽  
Thromboembolic Complications ◽  
Venous Thromboembolic

Aim. To determine possibilities of malignant neoplasms procoagulant activity detection by idiopathic thrombosis ultrasound imaging.Methods. 587 patients were examined. 347 patients with malignant neoplasms diagnosed in the outpatient clinic settings of the Tatarstan Regional Clinical Cancer Center (Kazan), were included in the main group. 240 patients, in which cancer pathology was excluded, were included in the control group. The groups were matched on age, sex and frequency of venous thromboembolic complications development risk factors not caused by malignant neoplasms. Both groups underwent clinical examination and ultrasound examination of the inferior vena cava, distal abdominal aorta, iliac arteries and veins, lower extremities arteries and veins.Results. Thrombosis clinical manifestations were detected in 12 patients, including 9 patients of the main group and 3 patients of the control group. In most cases of venous thrombosis in the main group (34 people, 79%) there were no clinical signs of thrombosis and it was detected only by ultrasound examination, which allowed to detect venous thrombus in 43 patients of the main group (12.4%) and in 5 patients of the control group (2.1%; t=3.2, p <0.05).Conclusion. The inferior vena cava system venous thrombosis frequency in patients with malignant neoplasms was significantly higher than that in patients without cancer, which indicates malignant neoplasms high procoagulant activity; ultrasonography has high sensitivity in the idiopathic thrombosis detection in cancer patients, and it should be performed regardless of the presence or absence of venous thromboembolic complications clinical manifestations.

scholarly journals GENETIC ASPECTS OF PREGNANCY MISCARRIAGE

2019 ◽  
pp. 71-76
Author(s):  
K. M. Lisova ◽  
I. V. Kalinovska ◽  
O. M. Yuzko
Keyword(s):  
Pregnant Women ◽  
Molecular Genetic ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Control Group ◽  
Molecular Genetic Study ◽  
Immunological Parameters ◽  
Fetoplacental Complex ◽  
Maternal Genotype ◽  
A1166c Polymorphism

Pregnancy miscarriage is a consequence of many factors. The aim of the study was to analyze the effect of miscarriage gene on embryometric, ultrasound, hormonal, immunological parameters in pregnant women, and to evaluate its prognostic value. The main group includes 31 pregnant women who had clinical signs of miscarriage in current or previous pregnancy. The control group consists of 32 healthy pregnant women whose clinical-paraclinical parameters served as a control to compare the data of the pregnancy survey of the main surveillance group. A general clinical examination and a special obstetrical examination (complaints, anamnesis, general medical examination, obstetric examination), biochemical studies (determination of hormones of the fetoplacental complex in blood serum of pregnant women), ultrasound, immunological studies, histological studies of the placenta, molecular genetic study A1166C polymorphism of the AGTR1 gene were made. In the course of the research, the genetic determinism of miscarriage was discovered. The polymorphism of the A1166C of the AGTR1 gene was considered as a prognostic marker of miscarriage in early gestational term and preeclampsia in the second half of pregnancy. A reliable marker of abortion was the maternal genotype 1166AC for the genome AGTR1. The risk of occurrence of clinical manifestations of abortion increased five times. At simultaneous influence of all prognostic factors the risk of abortion increased 6,25 times. Detection of genetic markers of pregnancy miscarriage will allow early correction of this pathology and prevent perinatal loss.

Marfan Syndrome

2005 ◽  
Vol 44 (04) ◽  
pp. 487-497 ◽  
Author(s):  
G. Mátyás ◽  
B. Steinmann ◽  
D. Baumgartner ◽  
C. Baumgartner
Keyword(s):  
Medical Treatment ◽  
Marfan Syndrome ◽  
Clinical Symptoms ◽  
Early Stage ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Hierarchical Cluster ◽  
Molecular Genetic Analysis ◽  
Missense Mutations ◽  
Surgical Interventions

Summary Objectives: Marfan syndrome (MFS) is an autosomal dominant inherited connective tissue disorder caused by mutations in the fibrillin-1 (FBN1) gene with variable clinical manifestations in the cardiovascular, musculoskeletal and ocular systems. Methods: Data of molecular genetic analysis and a catalogue of clinical manifestations including aortic elastic parameters were mined in order to (i) assess aortic abnormality before and during medical treatment, and to (ii) identify novel correlations between the genotype and phenotype of the disease using hierarchical cluster analysis and logistic regression analysis. A score measure describing the similarity between a patient’s clinical symptoms and a characteristic phenotype class was introduced. Results: A probabilistic model for monitoring the loss of aortic elasticity was built on merely aortic parameters of 34 patients with classic MFS and 43 control subjects showing a sensitivity of 82% and a specificity of 96%. The clinical phenotypes of 100 individuals with classical or suspected MFS were clustered yielding four different phenotypic expressions. The highest correlation was found between FBN1 missense mutations, which manifested as ectopia lentis, skeletal major and skin minor criteria, and two out of four clustered phenotypes. The probability of the presence of a missense mutation in both phenotype classes is approximately 70%. Conclusions: Monitoring of aortic elastic properties during medical treatment may serve as additional criterion to indicate elective surgical interventions. Genotype-phenotype correlation may contribute to anticipate the clinical consequences of specific FBN1 mutations more comprehensively and may be helpful to identify MFS patients at risk at an early stage of disease.

scholarly journals Combination of lipoatrophic diabetes mellitus with systemic scleroderma and phenylketonuria

2017 ◽  
Vol 63 (2) ◽  
pp. 130-133
Author(s):  
Galina N. Svetlova ◽  
Tamara L. Kuraeva ◽  
Dmitriy L. Alekseev ◽  
Valentina A. Peterkova
Keyword(s):  
Diabetes Mellitus ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Molecular Genetic Analysis ◽  
Systemic Scleroderma ◽  
Dietary Regimen ◽  
Insulin Resistant ◽  
Lipoatrophic Diabetes ◽  
Liver Functions ◽  
High Doses

We present the first report of a rare form of lipoatrophic diabetes mellitus in a child with partial autoimmune lipodystrophy combined with systemic scleroderma and phenylketonuria. We describe the features of clinical manifestations, diagnosis, and therapy. To exclude the monogenic form of lipodystrophy, we performed a molecular genetic analysis of genes ZMPSTE24, LMNA, BSCL2, PLIN1, PTRF, LMNB2, POLD1, AKT2, CIDEC, PIK3CA, PPARG, PSMB8, CAV1, PPP1R3A, and AGPAT2 that are responsible for the development of lipodystrophy and insulin resistance. No mutations were found. The presence of systemic scleroderma of autoimmune genesis enabled the diagnosis of autoimmune lipodystrophy. Treatment of insulin-resistant diabetes mellitus in lipodystrophy is a challenge: biguanide therapy is dangerous due to impairment of liver functions, and insulin therapy is not effective enough; administration of high doses is required. The presence of phenylketonuria further complicates compliance with the dietary regimen. The combination of three rare diseases ― lipoatrophic diabetes, phenylketonuria, and systemic scleroderma ― in one patient has not been found in the available literature.

scholarly journals Polymorphism of some genes of bone tissue metabolism (VDR Bsm1 c.IVS7G>A, LCT 13910 T>C, COL1A 12046 G->T) among the representatives of Russian and Buryat nationalities

2017 ◽  
Vol 20 (1) ◽  
pp. 3-6
Author(s):  
Svetlana V. Verkhoturova ◽  
Svetlana U. Tsarenok ◽  
Vladimir V. Gorbunov ◽  
Tatyana A. Aksenova
Keyword(s):  
Indigenous Population ◽  
Statistical Significance ◽  
Receptor Gene ◽  
Venous Blood ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Control Group ◽  
Collagen Gene ◽  
Age Group ◽  
Lactase Gene

Aim: to study the frequency of genotypes of the polymorphous markers of bone remodeling (vita-min D receptor gene Bsm1 c.IVS7G> A, the lactase gene LCT 13910 T> C and collagen gene COL1A 12046 G-> T) in healthy people and patients with osteopo-rosis (OP) among the indigenous population of Trans-baikalia of Russian and Buryat nationalities. Methods: 97 women with OP were examined: 49 Russian and 48 Buryat women aged from 50 to 80 years. 123 healthy women of the same age group were included in the control group. DNA sam-ples for molecular genetic analysis were taken from peripheral venous blood. Results: The recessive allele A of the VDR – Bsm1c.IVS7G> A polymorphism was accumulated in women of Buryat nationality, but the statistical significance was not observed (OR = 1.04, CI [0 68, 1.6]). C al-lele of LCT -13910 T> C polymorphism was associated with the development of OP among the representa-tives of Buryat nationality. Conclusion: The gene allele VDR Bsm1 c.IVS7G> Aand the LCT -13910 T>C leads to a higher risk of OP in women of Buryat nationality. The genotypes G/Tand T/T of COL1A12046 G-> T are associated with the development of OP in people of both nationalities.

Results of the inclusion of osteopathic correction in the complex therapy of patients with chronic gastritis

2021 ◽  
pp. 80-89
Author(s):  
R. T. Fazlyakhmetov ◽  
R. R. Safiullin ◽  
A. V. Ustinov
Keyword(s):  
Helicobacter Pylori ◽  
Gastric Mucosa ◽  
Chronic Gastritis ◽  
Eradication Therapy ◽  
Clinical Manifestations ◽  
Integrated Approach ◽  
Main Group ◽  
Control Group ◽  
Study Results ◽  
Complex Therapy

Introduction. Many key questions regarding the etiology, pathogenesis, clinical manifestations and treatment of chronic gastritis remain open. So, despite the success of chronic gastritis pharmacotherapy, much attention is paid to non-drug methods of therapy, in particular, osteopathy. However, evidences of the osteopathic methods effectiveness for the chronic gastritis treatment, obtained by objective instrumental methods, are insufficiently presented in the modern literature.The goal of research — to study the results of osteopathic correction inclusion in the complex therapy of patients with chronic gastritis.Materials and methods. The study involved 50 patients with chronic gastritis, divided by simple randomization into a control group (25 people) and a main group (25 people). The participants in the control group received standard eradication therapy according to a three-component scheme. The participants of the main group additionally received osteopathic correction. In both groups, at the beginning and at the end of the study, there were performed fibroesophagogastroduodenoscopy with targeted biopsy to assess the gastric mucosa state, Helicobacter pylori identification, and intragastric pH-metry to assess gastric juice acidity.Results. According to the study results, a statistically significant (p<0,05) decrease in edema and hyperemia of gastric mucosa was found in the control and main groups. There was a statistically significant (p<0,001) decrease in gastric aciditywith osteopathic accompaniment, compared with unaccompanied drug treatment. In both groups, there was a statistically significant (p<0,05) decrease in the incidence of Helicobacter pylori carriage. Conclusion. Based on the obtained results, it can be assumed that an integrated approach using osteopathic correction in the treatment of chronic gastritis may be more effective than the standard course of treatment.

Unusual clinical manifestations of type 1 neurofibromatosis

2011 ◽  
Vol 152 (49) ◽  
pp. 1965-1970
Author(s):  
Katalin Komlósi ◽  
Noémi Polgár ◽  
Kinga Hadzsiev ◽  
Gábor Ottóffy ◽  
Tamás Illés ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Final Diagnosis ◽  
Molecular Genetic Analysis ◽  
Café Au Lait Spots ◽  
Type 1 Neurofibromatosis ◽  
The Central Nervous System ◽  
Neurofibromin 1

Type 1 neurofibromatosis is an autosomal dominant hamartosis caused by mutations of the neurofibromin-1 gene. The classic features of the clinical phenotype include the presence of café-au-lait spots, neurofibromas, axillary and inguinal freckling, Lisch-nodules and deformities of the skeletal system, as well as the risk of developing multiple tumors, especially in the central nervous system. However, it is known from the literature that the phenotypic variability can pose a huge diagnostic difficulty. Aims: Our institute performs molecular genetic testing of the neurofibromin-1 gene since 2008; during this period several unusual phenotypic variants were found. Results, conclusion: The reported four cases represent interesting phenotypic variants or diagnostic challenges in which the final diagnosis was established by molecular genetic analysis. Orv. Hetil., 2011, 152, 1965–1970.

scholarly journals Indirect Electroimpulse Myostimulation and Its Role in Treatment of Patients with Shin Bone Fractures

2015 ◽  
Vol 22 (4) ◽  
pp. 21-25
Author(s):  
V. N Obolenskiy ◽  
A. V Karpenko ◽  
N. V Zagorodniy
Keyword(s):  
Bone Fractures ◽  
Plate Osteosynthesis ◽  
Controlled Study ◽  
Control Group ◽  
Study Group ◽  
Thromboembolic Complications ◽  
Randomized Controlled ◽  
Electric Muscle Stimulation ◽  
Venous Thromboembolic

Prospective randomized controlled study to evaluate the efficacy of electric muscle stimulation (EMS) of calf muscles in prevention of venous thromboembolic complications (VTEC), shortening of treatment and rehabilitation terms in patients with shin bones fractures was performed. The study included 60 patients, aged 19-67 years, with isolated shin bones fractures. All patients were admitted at early (from 0.5 to 3 hours) terms after injury. For final fixation either intramedullary or plate osteosynthesis were used. All patients were on anticoagulant therapy for VTEC prevention. In the study group ( n =30) 2 séances of EMS, 3 hours each, were performed daily from the first day of hospitalization. In 30 patients from the control group EMS was not performed. It was shown that application of EMS ensured the shortening of treatment and rehabilitation terms, better quality of life and enabled to avoid VTEC development. Achieved preliminary data are indicative of the expediency of EMS application in traumatologic patients at early hospital stage.

scholarly journals Frequency of Cytokine Gene Polymorphism in Full-Term Newborns with Hypoxic Events

2020 ◽  
Vol 5 (4) ◽  
pp. 21-27
Author(s):  
M. S. Panova ◽  
A. S. Panchenko ◽  
B. S. Pushkarev
Keyword(s):  
Gene Polymorphism ◽  
Brain Damage ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Full Term ◽  
Control Group ◽  
Cytokine Gene ◽  
Cytokine Gene Polymorphism ◽  
Blood Leukocytes ◽  
Intrauterine Hypoxia

Background. An infant brain damage is an extremely urgent problem, this pathology is difficult to prevent, and subsequently it manifests itself with a variety of neurological consequences. Various mechanisms are involved in neurodamage; cytokines, as well as genes that control their activity, are under a great concern today. However, there is little data about their role as predictors of the brain damage among children after hypoxia. Aim of the research. To identify the frequency of cytokine gene polymorphism: interleukin (IL)-1β(C-511T), IL-1β(C3953T), IL-4(C589T), IL-6(C174G), IL-10(C819T), IL-10(G1082A) among newborns with hypoxic events. Materials and methods. The study involved 128 full-term newborn patients with hypoxic events: the first group (n = 48) included newborns who experienced chronic intrauterine hypoxia (CVH), the second group (n = 80) included newborns born in asphyxiation. Control group (52) included babies born without asphyxia and not suffering from CVH. A retrospective analysis of case-records was carried out. The material for molecular genetic analysis was DNA samples isolated from umbilical cord blood leukocytes using DNA Express Blood reagents (Scientific and Production Company LITECH, Moscow). Results. Compared to the control group (p = 0.03) children born in asphyxia had their T allele IL-1β (C-511T) prevailed. The group of newborn who had CVH had their TT genotype (p = 0.04) and the T IL-1β allele (C-511T) (p = 0.01) prevailed compared to the control group. In the same study group while studying the polymorphism of the IL-1β gene, the T allele (p = 0.03) at the point C3953T prevailed, in contrast to the control group. Conclusion. Due to the fact that cytokines are part of a reaction cascade leading to the secondary brain damage, under the action of hypoxia, it was found that among newborns undergoing asphyxia and chronic intrauterine hypoxia the increased frequencies of carriage of IL-1β-511TT and IL-1β-3953TT genotypes, and IL-1β-511T and IL-1β-3953T alleles increase the risk of neurodamage.

scholarly journals Indirect Electroimpulse Myostimulation and Its Role in Treatment of Patients with Shin Bone Fractures

2015 ◽  
pp. 21-25 ◽  
Author(s):  
V. N. Obolenskiy ◽  
A. V. Karpenko ◽  
N. V. Zagorodniy
Keyword(s):  
Bone Fractures ◽  
Plate Osteosynthesis ◽  
Controlled Study ◽  
Control Group ◽  
Study Group ◽  
Thromboembolic Complications ◽  
Randomized Controlled ◽  
Electric Muscle Stimulation ◽  
Venous Thromboembolic

Prospective randomized controlled study to evaluate the efficacy of electric muscle stimulation (EMS) of calf muscles in prevention of venous thromboembolic complications (VTEC), shortening of treatment and rehabilitation terms in patients with shin bones fractures was performed. The study included 60 patients, aged 19-67 years, with isolated shin bones fractures. All patients were admitted at early (from 0.5 to 3 hours) terms after injury. For final fixation either intramedullary or plate osteosynthesis were used. All patients were on anticoagulant therapy for VTEC prevention. In the study group ( n =30) 2 séances of EMS, 3 hours each, were performed daily from the first day of hospitalization. In 30 patients from the control group EMS was not performed. It was shown that application of EMS ensured the shortening of treatment and rehabilitation terms, better quality of life and enabled to avoid VTEC development. Achieved preliminary data are indicative of the expediency of EMS application in traumatologic patients at early hospital stage.

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