Obstetrics and Gynecology

Metachromatic leukodystrophy (MLD) is an orphan autosomal recessive lysosomal disorder belonging to the group of storage diseases. It is caused by pathogenic variants of the ARSA gene encoding the enzyme arylsulfatase A (ASA) which lead to a decrease or absence of the gene activity and the subsequent accumulation of sulfatides (sulfate-containing glycosphingolipids) in the central and peripheral nervous system, primarily in membrane structures. This causes neurodegeneration, manifesting as progressive motor and cognitive impairment. There are currently no registered treatment options for MLD in the Russian Federation. Treatment is limited to supportive methods (e.g., physical therapy, muscle relaxants, pain medications) aimed at preventing complications and maintaining patients’ quality of life and hematopoietic stem cell transplantation from a healthy donor. This analytical review describes the methodology used in the organization of a preclinical trial of ASA-expressing CD34⁺ hematopoietic stem cell transplantation as a potential treatment for MLD. The review also presents regulatory requirements for validating results obtained in biological models. It outlines the steps involved in creating autologous stem cells to achieve an optimal in vivo outcome, namely, maintaining the efficacy of gene therapy obtained in preclinical studies when used in a human population.

Conclusion: CD34⁺-ARSA therapy is a rational and scientifically validated approach to long-term correction of enzyme deficiency and stabilization of the course of the disease.

Climacteric syndrome includes vasomotor, urogenital, and vegetative symptoms that significantly reduce women’s quality of life. Despite the effectiveness of menopausal hormone therapy (MHT), its use is limited by contraindications and personal preferences. The Russian clinical guidelines discuss alternative approaches in addition to MHT. Phytoestrogens represent an alternative: they interact with the same receptors, but they act more gently and maintain effectiveness while having a more favorable safety profile. This review summarizes clinical and experimental evidence on phytoestrogens from red clover and hops, β-alanine, hyaluronic acid, and calendula. Their components reduce vasomotor complaints, affect hormonal and metabolic parameters, improve urogenital mucosa, and provide anti-inflammatory effect. Special attention is given to strategies for the combined use of dietary supplements. The Estrogiacaps nutraceutical that is available on the Russian market contains extracts of clover and hops, β-alanine, hyaluronic acid and calendula. The combination of these components in the nutraceutical provides a rational formula that can be used as an alternative approach to relieving symptoms in menopausal women. The article discusses the potential of the Estrogiacaps complex, which contains all the above components, as a non-hormonal alternative for managing menopausal symptoms.

Conclusion: The components of the Estrogiacaps nutraceutical work by affecting key mechanisms to provide relief from menopausal symptoms. On the one hand, they effectively reduce the menopausal symptoms, while on the other hand, they have a more favorable safety profile compared to hormone therapy.

Neonatal or newborn screening (NBS) represents a cornerstone of preventive pediatrics and it is aimed at the early detection of severe inherited disorders to enable timely intervention and improve clinical outcomes. This review examines in detail the historical development, modern methods, global differences and promising areas of development of NBS. The practice of NBS originated in the 1960s and was further developed in the 1970s and 1980s. In the 1990s, it underwent a qualitative improvement with the introduction of tandem mass spectrometry, which allows for simultaneous analysis of several metabolites. This technology has become the global gold standard. Modern diagnostic methods include the simultaneous detection of dozens of metabolites and their ratios for more than 50 pathologies, including multiplex approaches that combine several techniques. In order to improve specificity, the researchers use a comprehensive ranking system for metabolites, as well as strategies for additional second-tier testing using liquid chromatography-mass spectrometry (LC-MS/MS) or genetic methods. With the development of sequencing technologies, their role as first- and second-tier testing, including whole-genome and whole-exome studies, has increased. The use of omics technologies aimed at creating metabolic fingerprints and detecting biomarkers including new ones has expanded. Artificial intelligence and machine learning demonstrate significant potential in reducing the number of false positives and improving the quality of data interpretation.

Conclusion: The ethical aspects of genomic screening, the psychological impact of false positive results, and the need to address global inequalities in access to basic and advanced NBS services still remain unresolved.

Objective: A comprehensive analysis of the relationship between the antimicrobial activity of vaginal secretions and the clinical features of bacterial vaginosis in pregnant women during therapy, with consideration of vaginal pH dynamics and microbiological parameters.

Materials and methods: A total of 97 women participated in the study: 69 with bacterial vaginosis and 28 with normocenosis (normal vaginal flora). Patients with bacterial vaginosis were divided into a main group (n=37), who received combination therapy with an antibiotic and the immunomodulator "Superlymph", and a comparison group (n=32) on antibiotic monotherapy. After treatment, normocenosis was restored in all patients using the dosed cream "Acilact Duo". The antimicrobial activity of antimicrobial peptides was determined in the groups of pregnant women depending on the nature of the clinical symptoms of bacterial vaginosis against the background of its treatment.

Results: The results showed that the highest activity of antimicrobial peptides was observed in women with normocenosis. In bacterial vaginosis this activity decreased in proportion to the severity of the disease. In the main group, after combination therapy, this indicator increased almost twofold from the baseline. This regimen provided a significant improvement in clinical and laboratory parameters, a reduction in recurrences, prolonged remission, and restoration of the microbiota.

Conclusion: Including an assessment of immune status in the diagnosis of bacterial vaginosis in pregnant women, alongside a comprehensive evaluation of the vaginal microbiome, allows for personalized therapy. The results substantiate the advisability of implementing combination therapy into clinical practice.

Background: Preterm birth is a leading cause of neonatal mortality and disability, resulting in serious socio-economic consequences. Due to the high frequency of this condition, which has persisted for decades, there is a need for more effective tools to predict it.

Objective: To develop and validate an artificial intelligence-based system for predicting preterm birth using the data from electronic health records (EHR).

Materials and methods: The study used a dataset of 10,000 anonymized EHRs and 54 clinical variables. The system included an NLP model (based on RuBERT) for extracting the signs of preterm birth from the health records in the Russian language and a predictive model based on machine learning for assessing the risk of preterm birth.

Results: The CatBoost classifier demonstrated optimal prediction performance with the following parameters: accuracy = 0.81 (95% CI: 0.799 –0.821), recall = 0.87 (95% CI: 0.857–0.883), precision = 0.76 (95% CI: 0.748–0.772), F1-score = 0.81 (95% CI: 0.805–0.815), and AUC-ROC = 0.82 (95% CI: 0.809–0.831).

Conclusion: The developed system for predicting preterm birth showed metrics comparable to foreign analogues and stability during validation. This confirms its potential use for implementing in real obstetric practice.

Modern ultrasound technologies, including dynamic perfusion assessment, can deepen our understanding of the mechanisms that activate growth of residual uterine fibroids after myomectomy.

Objective: To evaluate the dynamics of blood supply to uterine fibroids remaining after laparoscopic myomectomy during 6 months of follow-up.

Materials and methods: A prospective cohort longitudinal study included 30 patients with a single uterine fibroid of intramural, intramural-subserous localization (FIGO type 4–5) that remained after laparoscopic myomectomy. We conducted a dynamic monitoring at 1, 3, and 6 months postoperatively, with the ultrasound assessment of biometry parameters and vascular morphology, as well as Doppler blood flow velocimetry. Three-dimensional ultrasound reconstruction with the VOCAL software was used to evaluate fibroid volume, echogenicity, as well as its vascularization indices (VI), flow index (FI), and perfusion index (VFI).

Results: We observed a decrease in uterine volume and restoration of endometrial thickness, accompanied by changes in the vascular architecture of the remaining uterine fibroids. The resistance index of the central fibroid vessels remained stable, while that of the peripheral vessels gradually increased. Small fibroids showed signs of angiogenic activity, while larger ones featured reduced perfusion. The perfusion index of uterine fibroids, both intramural (FIGO type 4) and intramural-subserosal (FIGO type 5), increased toward the end of the follow-up period; in type 4 nodules the enhancement of perfusion and flow index occurred earlier and was more pronounced than in intramural-subserosal nodules. Surgical factors had an impact on the perfusion indices of the residual uterine fibroids after myomectomy.

Conclusion: Size, location and type of the fibroid according to FIGO, as well as its surgical characteristics (number of removed fibroids, opening of the uterine cavity) were associated with differences in the perfusion indices of the residual uterine fibroids in postoperative observation. These data confirm that the combination of ultrasound features can be used for more substantiated planning of the frequency and extent of postoperative monitoring, but their prognostic role requires further study.

Objective: Exploration of the relationship between clinical and anamnestic data, the severity of VVA, and the results of proteomic analysis of CVF to identify protein biomarkers associated with atrophic changes, inflammation, immune response, and tissue regeneration in the age group of 50–70 years.

Materials and methods: The methodological foundation of this study was a comprehensive analysis integrating the clinical and anamnestic data and proteomic analysis of cervicovaginal fluid (CVF) from patients with vulvovaginal atrophy (VVA). The study included 32 women aged 50–70 years with vulvovaginal atrophy (VVA). The comprehensive analysis included the clinical and anamnestic data, cytological examination, HPV genotyping, and analysis of the protein content of CVF. Semi-quantitative proteomic analysis (HPLC-MS/MS) including protein identification and annotation was performed using the MaxQuant and STRING software packages.

Results: Proteomic analysis of CVF identified specific protein profiles indicating activation of inflammatory processes, impaired tissue regeneration, and neurobiological mechanisms of pain sensitization. These profiles involved protein groups associated with blood microparticles and translocation of SLC2A4, both of which play an important role in occurrence of atrophic changes. Changes in PGAM1, PGAM2, and PGAM4 suggest impaired energy metabolism and the extracellular matrix synthesis, adversely affecting the proliferative activity of epithelial cells. Impaired glycine-serine metabolism reduces collagen and glutathione synthesis contributing to loss of tissue elasticity and increased susceptibility to oxidative stress. Changes in synthesis of HSPA1A and HSPA1B are associated with impaired cellular adaptive responses and lead to accumulation of damaged proteins and enhanced apoptotic death of vaginal epithelial cells.

Conclusion: Proteomic analysis identified specific protein profiles indicating inflammatory activation, impaired tissue regeneration, and neurobiological pathways of pain sensitization.

Objective: To evaluate the organization, content and effectiveness of medical, social and psychological assistance to pregnant women in a situation of reproductive choice.

Materials and methods: An anonymous survey was conducted among 235 residents of the Central Federal District who presented an obstetrician-gynecologist for the termination of an unplanned pregnancy. The statistical analysis was performed using the Excel program. The statistical analysis of qualitative data is presented using absolute values and percentages, with the age of the participants expressed in the format Me (Q1; Q3).

Results: The organization and content of medical, social and psychological assistance to pregnant women in a situation of reproductive choice meets regulatory requirements. The patients have different attitudes towards pre-abortion counseling. Most often, they positively perceive the possibility of fetal ultrasound examination (68.1%) and psychological counseling (65.1%). In 90.7% of cases, psychological assistance is provided at a local women’s clinic, and in the majority of cases (98.0%) it is positively assessed by patients. The need for social, legal, and psychotherapeutic assistance for women with unplanned pregnancies is low: 11.5%, 5.9%, and 2.6%, respectively. The effectiveness of pre-abortion counseling is confirmed by the fact that 29.4% of women refused to have their pregnancy terminated.

Conclusion: Providing medical, social and psychological assistance to women in situations of reproductive choice is an effective way to reduce the number of induced abortions.

Background: One of the main reasons for the decline in demographic indicators in European countries and the Russian Federation is infertility. In this regard, providing high-quality medical care to patients with infertility through government-funded assisted reproductive technologies (ART) is of great social importance.

Objective: To compare the organization of medical care for ART in Russia and European countries.

Materials and methods: The characteristics of the medical care organization in Russia and other European countries were compared according to the selected criteria indicated as reference in the European Atlas of Fertility Treatment Policies.

Results: The article discusses the characteristics of the current legal documents regulating the use of ART, the organization of medical psychological support, as well as scientific literature and statistical data on in vitro fertilization (IVF) program implementation in the Russian Federation. To analyze the policy on the use of ART in European countries, the analytical review data and information provided in the European Atlas of Fertility Treatment Policies are considered. The similarities and differences in the organization of medical care for ART in Russia and European countries have been identified.

Conclusion: The analysis revealed that ART programs in most European countries and Russia are financed from public funds. However, there are some differences in the availability of IVF procedures depending on the patient’s age, intrauterine insemination services, medical psychological support, preimplantation genetic testing, as well as waiting time for IVF procedures and different gamete donation policies.

During menopause, when hypoestrogenism leads to atrophic changes in the vaginal mucosa, the use of local estrogens plays an important role in a number of preventive and therapeutic strategies. The use of estriol has been justified due to its strong affinity for estrogen receptors, its minimal systemic effects, and its high safety when applied locally. This makes it a safer option compared to other estrogen-containing drugs, as it reduces the risk of both systemic side effects and the development of cancer. This article presents a review of recent studies demonstrating the use of estriol in menopause during oncological processes and its effect on a woman’s body. Particular attention is given to the analysis of the data on the oncological safety of local hormone therapy with estriol. It includes the results of long-term clinical observations and meta-analyses, which show a low probability of developing gynecological tumors when this drug is used properly. The issues of individual aspects of prescription, optimal treatment plans, and monitoring the effectiveness and safety of treatment are discussed. The article also provides a critical analysis of the risks and benefits of using estriol for the prevention and treatment of vaginal conditions, allowing us to draw conclusions about the potential for expanding its use in clinical practice. This analysis takes into account modern standards for the safety and efficacy of gynecological hormone therapies.

Conclusion: The use of estriol in local hormone therapy shows promising potential for expanding its clinical use, given its high oncological safety. These findings help to improve modern standards of obstetric and gynecological care, the quality of life for women during menopause and the postmenopausal period, and treatment of gynecological conditions that require hormonal correction.

The high prevalence of anxiety disorder, its significant negative impact on the quality of life of patients, as well as the frequent combination of pathological anxiety with somatic diseases define the importance of elaboration unified approaches to the diagnosis, routing and treatment of this type of mental disorder for doctors of any specialty. Comorbid anxiety is a common problem in obstetrical and gynecologal practice. The peri- and postmenopausal periods are characterized by significant physiological, psychological, and social changes in a woman's life, which can predispose her to anxiety disorders. Timely management for comorbid syndromic anxiety can not only improve a woman's quality of life but also increase her compliance with treatment for the underlying condition.

Conclusion: It is of high importance to pay special attention to the identification of anxiety disorders in order to create a precise diagnostic algorithm, provide active treatment and define preventive measures.

Background: Pelvic organ prolapse is a pathology that can lead to a decrease in a woman’s quality of life regardless of age. This condition usually occurs in elderly patients, but special attention in the world practice is paid to pelvic organ prolapse in women of reproductive age, namely in pregnant women. The presented clinical observation demonstrates a case of pelvic organ prolapse caused by pregnancy, and also contains the analysis of pregnancy management in the hospital setting.

Case report: The article describes the characteristics of pregnancy in women with pelvic organ prolapse. Based on these observations, it is possible to assess the woman’s condition during labor and to determine the most suitable mode of delivery for her.

Conclusion: The increased attention of the obstetrician-gynecologist to the complaints of patients and a thorough examination of the symptoms characteristic of the condition play an important role in diagnosing the disease before a patient’s admission to the hospital. Consequently, the accumulated clinical experience and the choice of medical tactics with a high level of evidence will ensure the successful course and outcome of pregnancy in such patients.

Background: In recent years, there has been a rise in the number of uterine fibroid diagnoses, particularly among younger women of reproductive age. This has led to an increased number of cases where this condition is combined with pregnancy. In this regard, obstetricians and gynecologists increasingly have to decide on the tactics of managing this group of patients at the stages of preconception care, gestation, delivery and puerperium.

Case report: The paper presents a clinical case of a pregnant woman with a giant uterine fibroid. A 30-year-old primigravida was registered in the clinic at 6 weeks gestation. During the examination, a giant uterine fibroid was diagnosed for the first time. Myomectomy was performed for edema of the myomatous node at 15 weeks gestation. The patient had a full term delivery by cesarean section.

Conclusion: This was a rare case of myomectomy at 15 weeks gestation followed by a favorable pregnancy outcome in a patient with a giant uterine fibroid detected for the first time at an early stage.