Here, we described three affected boys from two unrelated families of Ossetian-Digor origin from the Republic of North Ossetia-Alania who were admitted to the Research Centre for Medical Genetics ...with unspecified muscular dystrophy. High-throughput sequencing was performed and revealed two novel frameshift variants in the COL6A2 gene (NM_001849.3) in a heterozygous state each in both cases: c.508_535delinsCTGTGG and c.1659_1660del (case 1) and c.1689del and c.1659_1660del (case 2). In two cases, the same nucleotide variant in the COL6A2 gene (c.1659_1660del) was observed. We have suggested that the variant c.1659_1660del may be common in the Ossetian-Digor population because two analyzed families have the same ancestry from the same subethnic group of Ossetians). The screening for an asymptomatic carriage of the nucleotide variant c.1659_1660del in 54 healthy donors from Ossetian-Digor population revealed that the estimated carrier frequency is 0.0093 (CI: 0.0002–0.0505), which is high for healthy carriers of the pathogenic variant. Molecular genetic, anamnestic data and clinical examination results allowed us to diagnose Ullrich muscular dystrophy in those affected boys. Genetic heterogeneity and phenotypic diversity of muscular dystrophies complicate diagnosis. It is important to make a differential diagnosis of such conditions and use HTS methods to determine the most accurate diagnosis.
Primary dysmenorrhea is one of the most common causes of pelvic pain in women. It can reduce quality of life and interfere with daily activities. The use of combined oral contraceptives in young ...women with primary dysmenorrhea is an effective and safe treatment option. The article presents a clinical case of the effective use of combined oral contraceptives containing drospirenone in a young woman with primary dysmenorrhea and severe pain syndrome, which is not relieved by analgesics and antispasmodics and significantly reduces the patient's quality of life.
The article presents an overview of the physiological role of anti-Mullerian hormone (AMH) during persons lifetime, the fluctuations of its values from birth to the reproductive period in women, the ...significance of its determination in the diagnosis and prognosis of treatment outcomes for many gynecological diseases. AMH is produced mainly by preantral and early antral follicles and decreases during the final maturation and luteinization. AMH plays a potential role in preserving the ovarian reserve by performing dual actions. AMH inhibits the initial recruitment of follicles, preventing the influence of stimulating growth factors for recruitment (KIT-ligand, the main fibroblast growth factor). From the moment of puberty, AMH reduces the sensitivity of primary follicles to the follicle-stimulating hormone, reducing the likelihood of their cyclic recruitment. The systematic review data presented the characteristics of the ovarian reserve in a healthy female population aged 0 to 19 years. At birth, very low AMH values were noted with an increase in its level in the first 3 months of life, followed by a monthly increase of 31%. A significant increase in AMH secretion was revealed by the beginning of puberty, then most authors noted a constant level of serum AMH in the adolescent period. The level of AMH in the blood serum decreases with an increase in chronological age by 68% annually and varies during the menstrual cycle. AMH is an important diagnostic tool in pediatric practice when differentiating various causes of puberty disorders, virilization and menstrual cycle disorders in girls.
Uterine fibroids are the most common benign neoplastic tumor of the uterus, occurring in adolescents with a frequency of less than 1%. According to literature data, 87.5% of young patients, as a ...rule, have a variety of symptoms, the most frequent of which is abnormal uterine bleeding, anemizing the patient, abdominal pain, abdominal enlargement in volume. Diagnosis in adolescent girls may be difficult, due to the rarity, as well as the presence of some limitations in the echographic examination performed, as a rule, by transabdominal access. Methods of treating leiomyomas in women are well known and are widely described in clinical guidelines ranging from surgical to medicinal, however, they are not standardized for the pediatric population. Currently, no more than 25 clinical observations have been described in the literature, which indicates the importance of accumulating clinical data in order to develop an optimal clinical approach aimed at preserving reproductive function in such patients.
Aim. To study the clinical and anamnestic, and surgical features of patients with genitourinary system malformations. Materials and methods. A retrospective analysis of data from 252 medical records ...of patients with genitourinary system malformations who were admitted for examination and treatment to the Department of Pediatric and Adolescent Gynecology of the Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology of the Ministry of Health of the Russian Federation from 2012 to 2019. During analysis, special attention was paid to the data of surgical treatment, clinical and anamnestic data and the intraoperative picture. Results. Developmental anomalies of the genital system are combined with urinary system malformations in 21.1% of cases. Genital malformations in adolescent girls are characterized by a high rate of various complications: hematocolpos (53.6), hematocervix (30%), hematometra (26.2%), hematosalpinx (15.1%), endometriosis (19.2%), masses (16.4%) and adhesions (25.4%). Conclusion. Genital system malformations are often associated with anomalies of the urinary system and are characterized by a high risk of complications, therefore, timely identification and multidisciplinary management of such patients from an early age is extremely important.
The article presents a clinical case of delayed puberty in a 13-year-old girl with Fanconi anemia who was sent to the Department of gynecology of children and adolescents for removal of the sexual ...glands due to the detection of a Y-chromosome in the karyotype at the place of residence. A personalized multidisciplinary approach to the management of a patient with Fanconi anemia with the presence of the Y-chromosome in the karyotype against the background of delayed puberty allowed to identify iatrogenic chimerism and avoid unjustified castration.
Background. Adnexal torsion (AT) takes fifth place among all emergency gynecological conditions. Suspicion of AT requires immediate diagnosis and urgent surgical treatment. The most common causes of ...AT are various volumetric formations, such as functional or dermoid ovarian cysts, contributing to an increase in its volume and/or anomalies in the development of the ligamentous apparatus. Timely diagnosis and detorsion contributes to the full restoration of impaired venous outflow and lymphatic drainage of the ovarian tissue, preventing the development of severe ischemia and necrosis. Over the past few decades, a surgical organ-preserving approach in managing patients with AT has been the gold standard of care.
Materials and methods. The article describes the results of a retrospective study of cases of AT in children and adolescents treated at the Department of Pediatric and adolescent gynecology Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology with an assessment of the clinical and anamnestic features of this cohort of patients and the choice of therapeutic tactics.
Conclusion. A multidisciplinary approach is critical to optimizing the delivery of care in cases of AT, including minimally invasive detorsion and preserving the functionality of the ovary as a treatment standard that should be used in the management of children and adolescents.
The article describe a rare clinical observation of a giant paraovarian cyst in a teenage girl with laparoscopic removal. The presence of giant cyst in the abdominal cavity in adolescent girls ...requires a multidisciplinary approach, taking into account visual diagnostic methods, preference for MRI, followed by the participation of experienced teams of highly qualified specialists in order to conduct a minimally invasive organ-preserving treatment.
The present article highlights the development of the theoretical and methodological approaches to definition of subject domain of regional economy and ensuring stability of regional development. The ...main subject of this research is the grain production complex as reproduction system, taking into account its role in ensuring food security of the country and its regions. Results of research offer the effective proof to that the grain independence represents the function from the existing solvent demand of the population for food. In the absolute parameters, it is sufficient for full providing which allows the effectively usage of stimulation factors of grain farm development within policy of national security. It also becomes a major factor of providing food and economic security of the state and its regions in modern conditions.
This article describes the features of the application of modern educational technologies in the process of forming of such necessary qualities for a modern specialist as social competence, ...communication skills, critical thinking skills, the ability to reflect and adequate perception of the events, other people and themselves, that would contribute to the prevention and overcoming of students’ moral alienation. The paper discusses the essence and diversity of modern interactive teaching technologies, the advantages of project method, possibilities of telecommunication training projects. It also provides the examples of practical realization of modern interactive technologies in the educational-upbringing process of the North%Ossetian State University. The results of the study extend the knowledge about the nature and possibilities of modern educational technologies, which facilitates students’ spiritual and moral development.
