scholarly journals PREVENTION OF ORPHAN DISEASES: CONTEMPORARY ASPECTS AND NEW CHALLENGES

2019 ◽  
Vol 20 (4) ◽  
pp. 226-232
Author(s):  
R. F. Shavaliev ◽  
Sabina Sh. Yafarova ◽  
S. Ya. Volgina
Keyword(s):  
Genetic Counseling ◽  
Preventive Measures ◽  
Assisted Reproductive Technologies ◽  
Fetal Surgery ◽  
Reproductive Technologies ◽  
Current Data ◽  
Orphan Diseases ◽  
Rapid Diagnostics ◽  
Medical Genetic ◽  
New Challenges

The authors represent current data concerning the management of the prevention of orphan diseases. Determinations of modes and levels of the prevention have been formulated. The importance of pre-gravity care, medical genetic counseling, assisted reproductive technologies, methods of prenatal diagnosis and fetal surgery, neonatal screening at certain stages of the organization of preventive measures is reflected. Specific features of screening for rare diseases with the use of rapid diagnostics methods are described: a solid approach, mass character, preventive orientation and stage-by-stage approach. Topical issues of the prevention of orphan diseases are considered.

Genetic polymorphisms of reproductive hormones and their receptors in assisted reproduction technology for patients with polycystic ovary syndrome

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Yulia A. Koloda ◽  
Yulia V. Denisova ◽  
Natalia M. Podzolkova
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Assisted Reproductive Technologies ◽  
Polycystic Ovary ◽  
Ovarian Response ◽  
Reproductive Technologies ◽  
Reproductive Hormones ◽  
Current Data ◽  
Nucleotide Polymorphisms ◽  
Ovary Syndrome ◽  
Art Programs

Abstract Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies in women of childbearing, which is defined by the accumulation of multiple, small fluid-filled ovarian cysts without the selection of a single dominant follicle. Most PCOS phenotypes are characterized by the absence of spontaneous ovulation, resistance toward ovulation inductors, the production of a large immature oocytes number, and the high prevalence of ovarian hyperstimulation syndrome, resulting in reduced assisted reproductive technologies (ART) programs effectiveness. The review analyses current data about the relationship between polymorphism genotypes of KISS genes, follicle stimulating hormone (FSH), luteinizing hormone (LH), anti-Müllerian hormone (AMH) and their receptors genes, gonadotropin-releasing hormone (GnRH), estrogen, and progesterone receptors genes, the PCOS risk and the features of ovarian response to stimulation during ART cycles. The use of single nucleotide polymorphisms (SNPs) as prognostic markers of ART programs outcomes would provide a personalized approach to the drugs and doses choice for ovarian stimulation and significantly increase the chance of pregnancy.

Deep infiltrative endometriosis. Contentious issues: pros and cons

GYNECOLOGY ◽  
2020 ◽  
Vol 22 (5) ◽  
pp. 50-56
Author(s):  
Elena I. Rusina ◽  
Maria I. Yarmolinskaya ◽  
Valeriia O. Piankova
Keyword(s):  
System Analysis ◽  
Assisted Reproductive Technologies ◽  
Reproductive Technologies ◽  
Current Data ◽  
Management Planning ◽  
Pregnancy And Childbirth ◽  
Pubmed Database ◽  
Risk Condition ◽  
Reproductive Life ◽  
Deep Infiltrative Endometriosis

Relevance.Deep infiltrative endometriosis (DIE) is a particular form of endometriosis with a more severe symptoms and dysfunction of the neighboring organs. Inspite of the fact that in recent years, much had been done to understand the pathogenesis of the disease and its associated symptoms; there are still several unresolved issues. Aim.To describe debated issues of pathogenesis and management of patients with DIE using current data. Materials and methods. Foreign and domestic scientific articles on this topic that is available in PubMed database and on Internet resources have been examined over the past 5 years. Results.The review consisted of a system analysis of data on the pathogenesis of pain, infertility, the choice of conservative or surgical treatment in dealing with specific problems of managing patients with DIE. Conclusion.Despite there are different options of managing and treating, most specialists agree that the treatment strategy should be based on the assumption that it is a chronic recurrent disease. The treatment choice should be personal depending on the severity of symptoms, dysfunction of the neighboring organs affected by endometriosis, such as the intestines, bladder, ureters, as well as the womans age and reproductive life plans. Depending on the clinical case, it is possible to use various regimens of conservative management. Surgical management planning should be highly balanced. A radical surgery with removing foci of endometriosis performed by an experienced surgeon in a specialized hospital in coupled with pharmacotherapy and assisted reproductive technologies increases the patients chances of pregnancy, a healthy childbearing. Subsequent combination therapy provides a long-term remission. Pregnancy and childbirth in patients with deep infiltrative endometriosis should be considered as a high risk condition for the severe complications.

scholarly journals CHARACTERISTICS OF MORBIDITY OF CHILDREN BORN USING ASSISTED REPRODUCTIVE TECHNOLOGIES

2020 ◽  
Vol 8 (4) ◽  
pp. 629-634
Author(s):  
K.A. Kuzmichev ◽  
Keyword(s):  
Large Scale ◽  
Assisted Reproductive Technologies ◽  
Reproductive Function ◽  
Reproductive Technologies ◽  
Current Data ◽  
Number Of Children ◽  
Neoplastic Processes ◽  
Increased Risk ◽  
Meta Analyses ◽  
The Impact

Infertility is an important medical and social problem. Increasing numbers of infertile couples lead to an increase in the use of assisted reproductive technologies (ART), which is reflected in the increasing number of children born using these methods. Literature provides information on the specific features of neonatal and early postnatal diseases in such children, showing significantly lower health parameters compared to children born in result of spontaneous pregnancy. The issue of the long-term health status of children born after ART is still controversial. The first major meta-analyses have appeared quite recently permitting to reliably assess the morbidity of children born after ART. This review presents evidence that summarizes the current data on the morbidity of children born after ART. It shows the absence of a reliable difference in the level of occurrence of neoplastic processes, development of metabolic and psychiatric diseases. There is an increased risk of vascular-endothelial dysfunction, arterial hypertension, cardiovascular diseases. Contradictory data were obtained on the impact of ART methods on reproductive function: a decrease in ejaculate quality was observed in boys born after intracytoplasmic sperm injection. The presented data make it possible to form an idea on this issue, however, within the general morbidity framework. Nosological characteristics and the determination of incidence of certain diseases still remain a relevant task and require special large-scale prospective studies and observation of children born after ART throughout their lives to establish more accurate correlations.

The complex of therapeutic and preventive measures for women with non-alcoholic fatty liver disease in preparation for ART programs

2016 ◽  
pp. 169-172
Author(s):  
A.G. Boychuk ◽  
Keyword(s):  
Liver Disease ◽  
Fatty Liver ◽  
Fatty Liver Disease ◽  
Preventive Measures ◽  
Assisted Reproductive Technologies ◽  
Reproductive Technologies ◽  
Prediction Algorithm ◽  
Art Programs ◽  
Alcoholic Fatty Liver ◽  
Alcoholic Fatty Liver Disease

The objective: To evaluate the effectiveness of complex therapeutic and preventive measures for women with non-alcoholic fatty liver disease in preparation for ART programs. Materials and methods. To evaluate the effectiveness of therapeutic and preventive measures on the basis of the prediction algorithm in women with infertility and non-alcoholic fatty liver disease (NAFLD) identified 60 women with a high risk of inefficiencies ART. The method of randomization, patients were divided into: basic group - 30 women with a recommended set of preparations for the holding of ART, the comparison group - 30 women with preparations for ART according to the Ministry of Health protocols. Results. Application reference system in women with infertility and NAFLD, which includes forecasting inefficiency ART and additional therapeutic and preventive measures to include gepatoprotektors, acid ursodeoxycholicum drugs, L-arginine, щ-3 fatty acids and probiotics, helped to improve the overall condition of the woman, a liver condition, cardiovascular regulation reduce symptoms of dysbiosis, hormonal status and reproductive system, as a result, increase the effectiveness of ART programs to population-wide level (pregnancy occurred in 36.7% of women). Conclusions. Prove safety and high efficiency of complex therapeutic and preventive measures for women with infertility and NAFLD can be recommended for implementation in practice of reproductive medicine clinics, which will increase the effectiveness of ART, to preserve a woman’s health. Key words: infertility, assisted reproductive technologies, non-alcoholic fatty liver disease, treatment.

FEATURES OF PASSING AND FETAL CONDITION WITH MULTIPLE PREGNANCY, WHICH IS COMPLICATED BY FETO-FETAL TRANSFUSION SYNDROME

2021 ◽  
pp. 70-76
Author(s):  
Bragina T.V. ◽  
Petrov Yu.A. ◽  
Palieva N.V.
Keyword(s):  
Continuous Monitoring ◽  
Assisted Reproductive Technologies ◽  
Current Trend ◽  
Multiple Pregnancy ◽  
Practical Interest ◽  
Fetal Surgery ◽  
Reproductive Technologies ◽  
Multiple Pregnancies ◽  
Singleton Pregnancy ◽  
Methods Of Treatment

Problem of multiple pregnancy is one of the most relevant in obstetrics nowadays,being not only a medical, but also a socially significant problem. The problem of pregnancy management is of scientific and practical interest, it is caused by an increase in the number of multiple pregnancies. The current trend towards all cases of multiple pregnancies is explained by the activity of assisted reproductive technologies, the ever-increasing age of women in labor. This article discusses the features of the gestation period in multiple pregnancies, characteristic complications, as well as the features of the condition of the fetus and newborn in this condition. Multiple pregnancy is a model of fetoplacental insufficiency, which is explained by the fact that evolutionarily a woman's body is adapted to bear one fetus. According to research data, the course of multiple pregnancies is more often associated with the presence of various complications than the course of a singleton pregnancy. One of the most serious complications of multiple pregnancy is fetal-fetal transfusion syndrome. The occurrence of this complication requires the use of special tactics of pregnancy management, continuous monitoring of the condition of the mother and fetus, readiness to make emergency correct decisions about prolonging pregnancy or delivery, readiness to provide highly specialized assistance to the fetus and subsequent newborns. Clinical management of pregnancy, treatment and prognosis depend on the extent of development of feto-fetal transfusion syndrome, gestation, on which has developed the syndrome, presence or absence of the mother's genital or extragenital pathology, as well as the fetus. The main methods of treatment of feto-fetal transfusion syndrome are methods of fetal surgery, the most effective of which is the method of fetoscopic coagulation of placental anastomoses.

Re-imagining Reproduction: Unsettling Metaphors in the History of Imperial Science and Commercial Surrogacy in India

Somatechnics ◽  
2015 ◽  
Vol 5 (1) ◽  
pp. 88-103 ◽  
Author(s):  
Kalindi Vora
Keyword(s):  
Assisted Reproductive Technologies ◽  
Reproductive Technologies ◽  
The Body ◽  
Body Parts ◽  
Colonial History ◽  
Women's Bodies ◽  
Commercial Surrogacy ◽  
Art Practices ◽  
History Of ◽  
Travel Industry

This paper provides an analysis of how cultural notions of the body and kinship conveyed through Western medical technologies and practices in Assisted Reproductive Technologies (ART) bring together India's colonial history and its economic development through outsourcing, globalisation and instrumentalised notions of the reproductive body in transnational commercial surrogacy. Essential to this industry is the concept of the disembodied uterus that has arisen in scientific and medical practice, which allows for the logic of the ‘gestational carrier’ as a functional role in ART practices, and therefore in transnational medical fertility travel to India. Highlighting the instrumentalisation of the uterus as an alienable component of a body and subject – and therefore of women's bodies in surrogacy – helps elucidate some of the material and political stakes that accompany the growth of the fertility travel industry in India, where histories of privilege and difference converge. I conclude that the metaphors we use to structure our understanding of bodies and body parts impact how we imagine appropriate roles for people and their bodies in ways that are still deeply entangled with imperial histories of science, and these histories shape the contemporary disparities found in access to medical and legal protections among participants in transnational surrogacy arrangements.

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