The role of thrombophilia in the genesis of reproductive losses

2017 ◽  
Author(s):  
I.B. Manukhin , N.F. Kuneshko , G.M. Turgunova et all
Keyword(s):  
Pregnant Women ◽  
High Frequency ◽  
Molecular Genetic ◽  
Fetal Loss ◽  
Reproductive Function ◽  
Molecular Genetic Analysis ◽  
Control Group ◽  
Reproductive Losses ◽  
Genetically Determined

Objective. Defining the role and frequency of acquired and genetic thrombophilia in the genesis of fetal loss syndrome. Methods. 49 pregnant women with a syndrome of reproductive losses and 27 pregnant women with normal reproductive function were examined. The identification of genetic forms of thrombophilia was performed by the method of molecular genetic analysis in 3 phases. Results. In 31 pregnant women of the main group (63,3 %) and 9 pregnant women in the control group (33,3 %) were the presence of acquired, genetically determined or multigeneration. Conclusion. Our analysis of clinical material showed a high frequency of complications and outcomes of pregnancy in women with thrombophilia and fetal loss syndrome and a possibility to avoid the above complications and poor pregnancy outcomes.

SONOGRAPHIC MARKERS OF ASSOCIATION OF FOLATE CYCLE POLYMORPHIC GENES AND EPIGENETIC FACTORS

2021 ◽  
pp. 92-100
Author(s):  
T. D. Alieva
Keyword(s):  
Pregnant Women ◽  
Genetic Diseases ◽  
Molecular Genetic ◽  
Epigenetic Factors ◽  
Childbearing Age ◽  
Screening Programs ◽  
Reproductive Losses ◽  
Adverse Pregnancy ◽  
Genetically Determined ◽  
Folate Cycle

Reproductive losses in Ukraine are about twice the European average, but have the same causes: miscarriage, abortion, malformations, parental infertility, death of women of childbearing age and children under six days of age. The study focuses on genetically determined reproductive losses associated with folate cycle polymorphism, some other polymorphisms, and epigenetic factors that increase the risk of adverse pregnancy outcomes. Methods of systematic and demographic analysis studied the indices of medical and statistical observation of the population of the Kharkiv region within the period of 2008−2018 with an emphasis on the results of biochemical, molecular genetic and sonographic examinations of pregnant women. Data on the number of examined pregnant women were analyzed using ultrasonographic and biochemical studies at the level of alpha−fetoprotein, chorionic gonadotropin and free estriol in the framework of selective screening programs for pregnant women. Statistical data on the number of fetuses and newborns who died during the first − sixth day after birth, with a distribution on the basis of full−term have been studied. The data are compared with similar national indices. The directions of reducing the reproductive losses are offered, including complex inspection of pregnant women with use of ultrasonography, biochemical and molecular−genetic methods of diagnostics of genetic diseases and defects of fetus development. Among the epigenetic factors we have identified obesity and old age of pregnant women, among the types of abortions we did medical abortions associated with stillborn pregnancies, as well as miscarriages. The findings of the study can be used to minimize the effects of risk factors for reproductive loss in the activity of general practitioners. Key words: polymorphism of folate cycle genes, reproductive losses, miscarriage, congenital malformations of fetus, ultrasonography.

scholarly journals The Role of Endothelial Dysfunction Markers in Pregnant Women with Chorion Detachment, Included in the Program of Auxiliary Reproductive Technologies

2017 ◽  
Vol 24 (3) ◽  
Author(s):  
Natalya Lytvyn
Keyword(s):  
Endothelial Dysfunction ◽  
Pregnant Women ◽  
Reproductive Function ◽  
Reproductive Technologies ◽  
The Body ◽  
Control Group ◽  
Vitro Fertilization ◽  
Endothelin 1

An urgent medical and social problem is the restoration of reproductive function of womenwho suffer from infertility, which became possible due to auxiliary reproductive technologies. Women with induced pregnancy make thegroup of a high-risk on miscarriage, due to interrelated processes –immunological disorders and endothelial dysfunction that occur in the body of pregnant women after the use of extracorporal fertilization programs, and can lead to the chorion detachment and the formation of subchorionic hematomas.The purpose of the study is to determine the role of endothelial dysfunction as one of the leading factors that determine the development of a local non-progressive chorion detachment in infertile patients included in the program of auxiliary reproductive technologies.Materials and methods. We have examined 130 pregnant women, who were divided into groups: the control group included 30 women, whose pregnancy occurred in the natural cycle and with uncomplicated gestational course; the main group – 50 patients with induced pregnancy and risk factors of the occurrence of chorion detachment, who wereperformed the proposed pre-gravidapreparation; the comparative group – 50 pregnant women who received a standard scheme of pregnancy management before and after in-vitro fertilization. A general clinical examination, ultrasound examination, homocysteine level determination, endothelin-1 and nitrogen oxide metabolites were performed.Results. In women included into the program of auxiliary reproductive technologies with local chorion detachment were recorded changes of vascular endothelial function with a possible increase in endothelin-1 production and a decrease of the nitric oxidesynthesis. During the induced pregnancy with the presence of subchorionic hematoma, an increase of the level of endothelium-damaging factor of homocysteine was noted.Conclusions.This study identifies the parameters that reflect the main links of endothelial dysfunction and can be used as markers of local chorion detachment.

scholarly journals Identification of Gene Related to Hard Bunch Phenotype in Oil Palm (Elaeis guineensis Jacq.)

2015 ◽  
Vol 43 (2) ◽  
pp. 147
Author(s):  
Roberdi , ◽  
Sobir , ◽  
Sudirman Yahya ◽  
Nurita Toruan-Mathius ◽  
Tony Liwang
Keyword(s):  
Dna Sequences ◽  
Oil Palm ◽  
Elaeis Guineensis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Target Sequence ◽  
Polymorphic Markers ◽  
Copia Retrotransposon ◽  
Selection Of

<p>ABSTRACT</p><p>Molecular genetic analysis of hard bunch phenomenon in oil palm was done in order to elucidate the role of genetic factor underlying hard bunch in oil palm plantation. The aim of this study was to identify the AFLP primer combination that co-segregates with hard bunch phenotype related gene in oil palm. Molecular analysis was done by bulk segregant analysis approach. DNA was isolated from leaves of the normal and hard bunch palm. DNA from ten individual palms from each category were pooled and used as a template. A total of 56 AFLP primer combinations were selected for selection of polymorphic primer, and as a result it was found that 22 AFLP primer combinations (39.28%) were polymorphic. A total of 48 individual of palm DNA containing 24 individual for each group were further genotyped by those 22 polymorphic markers. Of these, one AFLP primer combination (E-ACC/M-CTG) was obtained as a co-segregated marker that distinguished the hard bunch DNA from the normal one. Based on the analysis of the target sequence aligned to the oil palm DNA sequences available in database, we found that our sequence has similarity with Ty-1 copia retrotransposon. This sequence distribute in all 16 linkage group of oil palm genome.</p><p>Keywords: abnormal fruits, AFLP, oil palm, Ty-1 copia retrotransposon</p>

scholarly journals Dysmetabolic mechanisms of preeclampsia development

2021 ◽  
Vol 17 (4) ◽  
pp. 346-356
Author(s):  
I. S. Lipatov ◽  
Yu. V. Tezikov ◽  
A. R. Azamatov
Keyword(s):  
Insulin Resistance ◽  
Pregnant Women ◽  
Metabolic Disorders ◽  
Hematological Parameters ◽  
Control Group ◽  
Metabolic Disturbances ◽  
Group Iii ◽  
Inflammatory Status ◽  
Group I

Background: An in-depth study of dismetabolic mechanisms in the genesis of pre-eclampsia (PE) has been updated because pregnancy is considered as a natural model of metabolic syndrome (MS), as well as the metabolic disorders are important in development of essential hypertension.Aims: to reveal clinical and laboratory parallels in pregnancy complicated by PE without MS and pregnancy proceeding on the background of MS to assess the role of metabolic disturbances in the development of PE.Materials and methods: 82 women with MS were examined in the dynamics of pregnancy and were divided into 2 groups depending on the implementation of PE: group I consisted of 50 women with PE on the background of MS, group II 32 women with MS without PE. We formed group III consisting of 44 pregnant women with PE without accompanying diseases to assess the pathogenetic value of metabolic disorders in the development of PE. The IV (control) group consisted of 30 healthy women with physiological pregnancy. Metabolic, hematological parameters, hormones, markers of the proinflammatory state, endothelial hemostasiological dysfunction, decidualization and placental angiogenesis, accumulation dynamics and distribution loci of adipose tissue were determined in all pregnant women.Results: In the groups of pregnant women with PE, changes similar to MS were revealed: pronounced diabetic and atherogenic disorders with the development of pathological insulin resistance, hyperinsulinemia and leptinemia, endothelial-platelet link hyperactivation, thrombotic and inflammatory status, visceral type of fat deposition, hyperuricemia, hypersympathicotonia. It is proved that in the hierarchy of mechanisms of PE formation, placental dysfunction is a secondary alteration factor, which additionally potentiates the insulin resistance increase and the effects of structural and functional destabilization of the vascular endothelium.Conclusions: The direction of metabolic changes during pregnancy, the common development of PE and MS indicate the important role of dismetabolic mechanisms in the formation of PE.

scholarly journals Features of the morphological structure of the placenta in pregnant women with preeclampsia

2021 ◽  
pp. 10-15
Author(s):  
Volodymyr I. Chermak ◽  
Ihor I. Chermak ◽  
Chukwuanyinonso O. Ikeotuonye ◽  
Anatolii Ya. Senchuk
Keyword(s):  
Risk Factors ◽  
Pregnant Women ◽  
High Frequency ◽  
Morphological Changes ◽  
Morphological Structure ◽  
Morphological Features ◽  
Placental Insufficiency ◽  
Control Group ◽  
Basic Group ◽  
Adaptive Reactions

To study morphological features of the placenta in women in labor, pregnancy which complicated by preeclampsia we studied 26 placentae, of which 17 were from pregnant women with mild to moderate preeclampsia (basic group) and 9 from healthy women (control group). Histologically the study was conducted with methodically recommendations of T.D. Zadorozhnaya et al. for light microscopy. During the study of morphological features of the placenta in women in labor with preeclampsia were installed morphological changes in the placenta, which reflect a tendency to develop compensatory-adaptive reactions following their stress and exhaustion, which is a sign of placental insufficiency. Received data allow claiming a high frequency of development placental insufficiency in pregnant women with risk factors such as chronic salpingo-oophoritis, anemia, late preeclampsia, and inflammation diseases kidney.

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.

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.

THE ROLE OF SECRETING FUNCTION OF DECIDUA IN THE DEVELOPMENT OF COMPLICATIONS OF GESTATION PROCESS IN PREGNANT WOMEN WITH A PAST HISTORY OF CHRONIC ENDOMETRITIS

2020 ◽  
Vol 73 (11) ◽  
pp. 2416-2420
Author(s):  
Olena О. Taranovska ◽  
Volodymyr К. Likhachov ◽  
Ludmyla М. Dobrovolska ◽  
Oleg G. Makarov ◽  
Yanina V. Shymanska
Keyword(s):  
Pregnant Women ◽  
Past History ◽  
Control Group ◽  
Predisposing Factor ◽  
Chronic Endometritis ◽  
The Past ◽  
Early Stages ◽  
History Of ◽  
In The Beginning

The aim: To determine the serum FAMG in the I and II trimester of pregnancy in women with a past history of chronic endometritis, and to clarify its impact on the development of pathology of pregnancy. Materials and methods: The level of FAMG was determined at 6-8 and 16-18 weeks of gestation in 135 pregnant women with a past history of chronic endometritis, who received treatment of chronic endometritis at the stage of pregravid preparation and 168 women who became pregnant without its prior treatment. The dependence of the development of pre-eclampsia on the level of FAMG at the early stages of pregnancy has been evaluated. Results: At 6-8 weeks of pregnancy, the level of FAMG in women with a past history of chronic endometritis was 20.6% lower (122.4 ± 7.6 ng/ml) compared to the control group. In FAMG of 90.3 ± 4.3 ng/ml at 6-8 weeks of gestation, spontaneous abortion occurred in 100% of cases within the next 2 weeks. FAMG lower than 122,1 ± 3,0 ng/ml can be the predisposing factor for the development of pre-eclampsia. Conclusions: Reduced FAMG in the beginning of pregnancy in women with untreated chronic endometritis in the past history increases the incidence of miscarriages at the early stages by 2.6 times, and by 1.8 times the probability of preeclampsia development. Treatment of chronic endometritis at the stage of pregravid preparation promotes the increase of FAMG by 24,6% compared to untreated women that reduces the probability of complications during the subsequent course of pregnancy.

scholarly journals Polymorphisms in Genes Involved in Steroidogenesis in the Development of Severe Acne

2021 ◽  
Vol 11 (3) ◽  
pp. 275-280
Author(s):  
Alexander G. Rumyantsev ◽  
Olga M. Dеmina
Keyword(s):  
Molecular Genetic ◽  
Hair Follicles ◽  
Genetic Diagnostics ◽  
Control Group ◽  
Severe Acne ◽  
High Throughput Dna Sequencing ◽  
Molecular Genetic Diagnostics ◽  
Gene 4

Background: Acne is a multifactorial disease, in the pathogenesis of which one of the leading factors is the excessive effect of androgens on the hair follicles (HFs) and sebaceous glands (SGs), along with hypersecretion of sebum, pathological follicular hyperkeratosis and an inflammatory response. The search for genotypic markers in patients with varying severity of acne is a difficult task due to the multifactorial pathogenesis and the role of trigger factors in the formation of acne. The aim of this study was to determine SNPs within 3 genes involved in steroidogenesis (MVK, ARPC1B, and CA2) in patients with severe acne. Methods and Results: The study included 70 patients (42 men and 28 women) aged between 15 and 46 years (the median age - 22.1 years). The main group (MG) included 50 patients (29 men and 21 women) with severe acne. The control group (CG) consisted of 20 apparently healthy individuals (13 men and 7 women). Molecular-genetic diagnostics was carried out by the method of high-throughput DNA sequencing (next-generation sequencing). Our study showed that severe acne is associated with 12 polymorphic loci of the MVK gene (4 SNPs in exons and 8 SNPs in introns), 7 SNPs of the ARPC1B gene (2 SNPs in exons and 5 SNPs in introns), and 9 SNPs of the CA2 gene (3 SNPs in exons and 6 SNPs in introns). Conclusion: The revealed features of the SNPs within the MVK, ARPC1B, and CA2 genes in patients with severe acne probably indicate a hereditary determination of steroidogenesis in acne.

scholarly journals Ecological Aspects of microelements’ and Vitamins’ Salts Impact on Dairy Cows’ Productivity and Reproductive Function in Mountain Territories of KBR

2019 ◽  
Author(s):  
I K Taov ◽  
Ts B Kagermazov ◽  
A M Khuranov
Keyword(s):  
Vitamin A ◽  
Reproductive Function ◽  
Control Group ◽  
Mountainous Areas ◽  
Cattle Feeding ◽  
Ecological Aspects ◽  
Protein Change ◽  
Fat Soluble Vitamins ◽  
Biological Spectrum

The article examining the implication for the microelements’ salts – cobalt and copper – to milk production, vitamin A and trivitamin (vitamin A, D3, E) to the cows’ reproductive function in mountainous areas. The study is relevant due to the fact that when organizing cattle feeding, first of all, we care about the balance of rations for the main nutrients and only then for vitamins, minerals and micro minerals. That is why it becomes more important to provide the breeding stock with vitamins and increase the metabolism of the main substrate of life - protein, change its biological function. It is noteworthy that it is necessary to clarify the way that fat-soluble vitamins on cells act, so that their biological spectrum of action is wider than we realize. The purpose of this research is the further study of the biological role of trace elements and vitamins used in cattle breeding, considering the soil and climatic zones of mountainous areas. In our research, the mountainous farms cows’ feeding with microelements favorably affected their milk pr76nv hghhjhhnhghjuo9huyoduction. So, in animals from the second group, milk yield was higher compared to the control by 0.95 kg of milk, the third – by 1.28 kg and the fourth – by 1.45 kg. Calves from cows that received vitamin A and trivitamin developed better during the embryonic period and their birth weight was 2.8–3.0 kg more compared to the control group. Within 90 days after calving, 87.5–92 % of cows from the experimental groups became enceinte, while in the control group it was only 75 %.

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