Open Access Open Access  Restricted Access Access granted  Restricted Access Subscription or Fee Access

No 7 (2018)

Articles

Role of stem cell dysfunction in the development of great obstetrical syndromes

Sukhikh G.T., Silachev D.N., Goryunov K.V., Volochaeva M.V., Shmakov R.G.

Abstract

The paper provides a systems analysis of data on functional changes in the resident uterine and placental stem cells in preeclampsia (PE) and fetal growth restriction syndrome (FGRS); in particular, it discusses a reduction in their proliferative and angiogenic potential and an increase in the production of proinflammatory factors. It considers different aspects of cell therapy, ranging from the type of stem cells and their sources to the supposed mechanisms of therapeutic action, which determine the positive effect, as applied to therapy for PE and FGRS. The analysis of the data available in the literature could lead to the conclusion that cellular technologies are promising in treating PE and FGRS. Nonetheless, for their successful introduction into clinical practice, it is necessary to conduct further investigations of the comparative characteristics of stem cells in normal and pathological pregnancy, as well as the decoding of their molecular behavior in both cases.
Obstetrics and Gynecology. 2018;(7):5-11
pages 5-11 views

Synergy between folates and docosahexaenoic acid when taking the micronutrients separately during pregnancy

Gromova O.A., Torshin I.Y., Tetruashvili N.K., Reier I.A.

Abstract

The synergy between folates and omega-3 polyunsaturated fatty acids (omega-3 PUFA) is due to the fact that both micronutrients may reduce chronic inflammation and are important for the normal physiological development of the fetus. Folate deficiency disrupts DNA methylation and results in functional omega-3 PUFA deficiency in pregnant women, whereas omega-3 PUFA deficiency stimulates folate metabolic disturbances. Docosahexaenoic acid (DHA) is one of the most important types of PUFA for pregnant women. The combined use of folic acid and DHA together with other fat-soluble vitamins (D, E) is promising for nutritional support during pregnancy.
Obstetrics and Gynecology. 2018;(7):12-18
pages 12-18 views

Current approaches to diagnosing damages to the pelvic floor structures during childbirth

Apolikhina I.A., Chochueva A.S., Gus A.I., Ignatyeva A.A., Bychkova A.E.

Abstract

The authors analyzed current approaches to diagnosing pelvic floor damages during childbirth. Analysis of the data available in the literature showed that damage to the puborectalis muscle is the most common consequence of vaginal delivery. Current diagnostic principles, such as perineal 2D/3D ultrasound, significantly extend the possibilities of examination in female patients with pelvic floor damages, allowing for objectifying the process of examination and treatment. aking into account the efficiency of the given approaches to diagnosing birth trauma, they should be introduced into practical health care.
Obstetrics and Gynecology. 2018;(7):20-25
pages 20-25 views

Current methods for estimating the window of implantation in patients undergoing IVF treatment

Polovneva M.I., Korneeva I.E., Burmenskaya O.V.

Abstract

The paper provides a systems analysis of the data available in modern scientific literature on current methods for evaluating the markers of the window of implantation and on their search in patients with infertility. It describes the most significant markers of endometrial receptivity and methods for its assessment in infertile patients before embryo transfer in the in vitro fertilization (IVF) program. In consideration of highly contradictory data, further investigations are needed to search for predictors for the best day for implantation and to further understand the processes of synchronization between embryonic and endometrial development in order to enhance the effectiveness of an assisted reproductive technology program.
Obstetrics and Gynecology. 2018;(7):26-30
pages 26-30 views

Menopause and menopausal status in a woman

Yureneva S.V., Ermakova E.I.

Abstract

The paper provides a systems analysis of the data available in modern literature on possible methods for correcting menopausal disorders in peri- and postmenopausal women. It sets forth in detail the following aspects: classification; characteristics of the stages of reproductive system aging; pathogenesis; clinical manifestations of menopausal conditions; laboratory and instrumental diagnosis;principles of hormonal and non-hormonal therapy for menopausal disorders; and prevention of long-term menopausal complications. Menopausal hormone therapy is shown to be an effective method to correct menopausal symptoms, but it has certain risks and side effects. In this connection, further investigations are required to search for new non-hormonal treatments for menopausal disorders.
Obstetrics and Gynecology. 2018;(7):32-38
pages 32-38 views

Placental expression level of the PON1, PON2, and PON3 genes in patients with uncomplicated pregnancy and preeclampsia

Antipova N.V., Levakov S.A., Sheshukova N.A., Obukhova E.A., Pavlyukov M.S., Shakhparonov M.I.

Abstract

Objective. To determine the expression level of the genes encoding the paraoxonase family enzymes (PON1, PON2, and PON3) in the placentas of women with uncomplicated pregnancy and in the development of preeclampsia Materials and methods. The investigation enrolled 26 pregnant women aged 24 to 35 years, including 14 women with normal pregnancy and 12 with preeclampsia. The expression of the PON1, PON2, and PON3 genes was analyzed by real-time PCR using the primers specific to these genes. Results. Women whose pregnancy was complicated by preeclampsia showed a significant decrease in the placental expression of the PON2 gene. The lowest PON2 gene expression was found in the placentas of women with severe preeclampsia. There were no significant differences in the placental expression level of the PON1 and PON3 genes in women with preeclampsia compared to healthy women. Conclusion. In women with preeclampsia, the placental PON2 gene expression decreases; however, the expression level of the PON1 and PON3 genes does not differ from that of the PON1 and PON3 genes in the placentas of patients with physiological pregnancy. The placental expression of the PON2 gene depends on the severity of preeclampsia; is lower in severe preeclampsia than in moderate preeclampsia.
Obstetrics and Gynecology. 2018;(7):40-44
pages 40-44 views

HELLP syndrome: its clinical and laboratory features and imbalance of placental angiogenic factors

Kirsanova T.V., Vinogradova M.A., Kolyvanova A.I., Shmakov R.G.

Abstract

Objective. To investigate the clinical and laboratory characteristics of HELLP syndrome and to compare the clinical manifestations of nephropathy in women with moderate and severe preeclampsia (PE) and HELLP syndrome, by correlating them with the blood levels of placental growth factor (PlGF) and soluble fms-like tyrosine kinase 1 (sFlt-1). Material and methods. The course and outcome of pregnancies were studied in 141 women who were divided into 4 groups: 1) HELLP syndrome; 2) severe PE; 3) moderate PE; and 4) a control group. The investigators assessed and compared main laboratory, clinical, biochemical, and immunological parameters, including imbalance of placental angiogenic factors (sFlt-1 and PlGF) and conducted instrumental studies. Results. The patients with HELLP syndrome were found to have a significantly lower sFlt-1/PLGF ratio (median value, 254±93.51 pg/ml) than those with severe (median values, 439.08±112.29pg/ml) or moderate (306.62±164.59 pg/ml) PE. In addition to damage to the liver, the signs of involvement of other organs in the pathological process were seen in almost all the patients; at the same time renal failure was more pronounced than in those with PE (median values of serum creatinine was 110.80±20.62, 73.26±4.55, and 71.73±6.16 ymol/l in HELLP syndrome, severe PE, and moderate PE, respectively). There was a moderate direct correlation of the level of lactate dehydrogenase (LDH) with that of creatinine (r = 0.539) and total bilirubin (r = 0.606) and an inverse correlation of LDH with platelets (r = -0.384). The role of the imbalance of placental angiogenic markers in the development of clinical manifestations in HELLP syndrome was discussed. Conclusion. HELLP syndrome is unlikely to be a more severe variant of PE. HELLP syndrome is a clinically manifest variant of thrombotic microangiopathy. PE appears to be only a trigger for the development of HELLP syndrome.
Obstetrics and Gynecology. 2018;(7):46-55
pages 46-55 views

The role of RIG-I, AiM2 and IFI16 receptors for viral RNA and DNA in the pathogenesis of spontaneous and early missed miscarria

Lebedeva O.P., Zhukova I.O., Ivashova O.N., Pakhomov S.P., Churnosov M.I.

Abstract

Aim. To identify the features of the expression of mRNA of intracellular RIG-I, IFI16 and AIM2 receptors for viral RNA and DNA, and their signaling pathway proteins in the decidual tissue of patients with spontaneous and early missed miscarriages. Material and methods. The study comprised 68 patients with sporadic miscarriages, including 34 women with missed and 34 with spontaneous miscarriages at 6 to10 weeks of gestation. The control group included 57 patients who underwent surgical termination of pregnancy at the same gestational age. Patients with severe non-obstetric comorbidities, antiphospholipid syndrome, endocrine causes of miscarriage, and confirmed fetal chromosomal abnormalities were excluded from the study. Decidual tissues were collected by uterine curettage. Expression of RIG-I, IFI16 and AIM2 mRNA and their signaling pathway proteins (ASC, TBK1, STING, caspase-1, interleukin-1ß) was analyzed using quantitative polymerase chain reaction. Results. Patients with missed miscarriages had a seven-fold increase in the expression of decidual AIM2 mRNA protein detecting intracellular viral and Listeria’s DNA. This elevation was accompanied by an increase in the caspase-1 and IL-1β mRNA expression resulting in the initiation of an inflammatory response and pyroptotic cell death. Patients with missed miscarriages did not have significant changes in the expression of RIG-I and IFI16 mRNA, and their signaling pathway proteins. No changes in AIM2, RIG-I, and IFI16 mRNA expression and their signaling pathway proteins were observed in patients with spontaneous miscarriage. Conclusion. Patients with missed miscarriages have an increased decidual expression of the AIM2 receptor for viral and Listeria’s DNA. This increase is accompanied by an increase in the caspase-1 and IL-1β mRNA expression, leading to the initiation of a pro-inflammatory response and cell death.
Obstetrics and Gynecology. 2018;(7):57-61
pages 57-61 views

The course of pregnancy and labor in patients who previously had HPV-related disease

Kachalina T.S., Kachalina O.V., Vakhabova G.A.

Abstract

Objective. To analyze the course of pregnancy, by evaluating the cervical status, and labor in patients previously treated for different types of HPV-related disease. Subjects and methods. The course of pregnancy and labor was analyzed in 128 patients who had a history of HPV-related cervical disease, by using various therapeutic techniques. Results. Isthmicocervical insufficiency established by cervical echographic parameters occurs 3.9 times more frequently (p < 0.05) after cervical surgery. The most pronounced cervical shortening in HPV-related epithelial disease is observed at 16-18 weeks’ gestation. Conclusion. When the symptoms of threatened miscarriage appear in patients, it is necessary to perform combination treatment aimed at preserving pregnancy: correction of vaginal microbiocenosis, use of МсDonald’s cerclage, insertion of Doctor Arabin’s pessary, and administration of micronized progesterone. The used therapy allows pregnancy to be prolonged to the delivery date.
Obstetrics and Gynecology. 2018;(7):62-66
pages 62-66 views

Comparative assessment of neuraxial labor analgesia techniques

Neimark M.I., Ivanova O.S.

Abstract

Objective. To determine the method of choice for labor analgesia, by comparatively evaluating the efficiency and safety of ultra-low dose spinal, epidural, and paravertebral analgesia. Subjects and methods. The investigation involved 4 groups: 1) 40 patients whose labor anesthesia was achieved by epidural analgesia; 2) 40parturients whose labor anesthesia was attained by ultra-low dose spinal analgesia; 3) 40parturients whose labor anesthesia was done by paravertebral analgesia; 4) a control group of 40patients who received no analgesia. Central hemodynamic indicators, such as heart rate, blood pressure, and mean blood pressure, were monitored. The degree of motor block was measured using the Bromage scale. The dynamics of womb mouth opening and the duration of the first and second stages of labor were estimated. Complications and negative effects of anesthesia were also recorded; the effect of maternal analgesia on the fetus was evaluated. Results. Labor analgesia can stabilize hemodynamic changes in a parturient and substantially declines the number of labor abnormalities. Neuraxial techniques produced a high level of analgesia. Epidural analgesia showed its high efficiency and safety; however, the duration of the pushing phase of labor was significantly longer than that in the other groups. Ultra-low dose spinal analgesia also provided a sufficient analgesic effect in the first stage of labor. However, compared with the other methods, its short-term effect did not always ensure effective anesthesia of the second stage of labor. The advantages of paravertebral analgesia, such as a significant acceleration in cervical opening, and a reduction in labor time were generally revealed. There were no cases of motor block assessed by a Bromage score of 2 during paravertebral analgesia, while there were single cases with a score of 1 and 2 in the epidural and ultra-low dose spinal analgesia groups. Unlike other neuraxial labor analgesia techniques, paravertebral block did not cause low blood pressure. Conclusion. Neuraxial procedures provide an adequate level of analgesia, are able to eliminate labor abnormalities, and do not adversely affect the fetal status. All the presented analgesia techniques are used in obstetric anesthesiology. Knowledge of their features allows the choice of an anesthetic technique for spontaneous labor depending on the obstetric situation.
Obstetrics and Gynecology. 2018;(7):68-73
pages 68-73 views

A new approach to postpartum rehabilitation of patients with pelvic floor dysfunction

Dobrokhotova Y.E., Nagieva T.S., Slobodyanyuk B.A.

Abstract

Objective. To determine the efficiency of portable electrical myostimulation of perineal muscles and radio wave vulvar tissues lifting using a combined method for the prevention and conservative correction of pelvic floor dysfunction in patients in the late postpartum period. Subjects and methods. The investigation enrolled 34 reproductive-aged patients with early manifestations of pelvic floor dysfunction and with clinical types of no higher than Pelvic Organ Prolapse Quantification System (POP- Q) grade 1 genital prolapse. A study group consisted of 18 women; 6 patients of them were found to have POP- Q grade I genital prolapse. A control group included 16 women; 5 patients were observed to have POP-Q grade 1 colpoptosis. The inclusion criteria were the desire of a patient to participate in the study; the manifestations of pelvic floor dysfunction in the late postpartum period. The exclusion criteria were pregnancy; POP- Q grade 2 or higher genital prolapse; severe extragenital pathology; congenital abnormalities of the genitourinary system; pelvic surgery; acute or chronic inflammatory diseases of the pelvis and urogenital tract during an exacerbation; cancers; active-phase skin diseases; sexually transmitted diseases; and neuropsychiatric disorders. The investigation methods included a detailed history data collection to identify risk factors for perineal muscular incompetence both before and after birth; a thorough analysis of complaints; an objective examination; a visual inspection of the perineum by functional tests and perineometry; bimanual vaginal abdominal examination; laboratory examination; and transvaginal and transperineal ultrasonography. The patients were interviewed using the Pelvic Floor Distress Inventory-Short Form 20) (PFDI-20), the Female Sexual Function Index with 19 items (FSFI-19), and the Pelvic Organ Prolapse/Urinary Incontinence Sexual Questionnaire (PISQ-12). To restore pelvic floor functions and to improve their quality of sexual life in the late postpartum period, after preliminary training the study group patients underwent pelvic floor muscle training with a SensaTONE portable electromyostimulator (China) and a parallel cycle of radio wave lifting with a Surgitron DFS5 radio wave generator (USA) at 4.0MHz according to the Pelleve technology. After completing the cycle of postpartum pelvic floor rehabilitation, the authors analyzed the complaints made, the results of evaluating the perineum and those of perineometry, and the data of transperineal ultrasonography. Statistical data processing, plotting, and result analysis were made on a personal computer using Microsoft Word programs and Microsoft Excel spreadsheets. Statistical calculations were done using the application package Statistica version 7.0. Nonparametric statistical techniques (the MannWhitney U test) were used when the distributions differed from normal. Results. The results of the survey, perineometry, and estimation of the contraction force of the pelvic floor muscles according to the Oxford scale showed that the study group patients unlike the controls showed a significant reduction in the symptoms of pelvic floor dysfunction (p < 0.05) during electrical myostimulation in conjunction with radio wave perineal lifting procedures. The transperineal ultrasound changes in the study and control groups at 3 months after the beginning of the rehabilitation program proved statistically insignificant. Conclusion. Exposure of vulvar and perineal tissues to radio wave radiation of a certain spectrum, by using a Surgitron DF S5 radio wave generator at 4.0 MHz according to the Pelleve technology (USA) in combination with portable electromyostimulation of the pelvic floor muscles, is quite effective to the author’s opinion, as it is a combined technique and has an impact at several levels: the vulva, perineal tissues, and cross-striated pelvic floor muscles.
Obstetrics and Gynecology. 2018;(7):75-82
pages 75-82 views

Seromucinous ovarian tumors and endometriosis in reproductive-aged wo

Shamarakova M.V., Adamyan L.V., Asaturova A.V., Ezhova L.S., Zaitsev N.V., Yurova M.V., Martirosyan Y.O.

Abstract

Endometriosis affects up to 15% of reproductive-aged women. Consideration of this nosological entity in a new aspect is impelled by the evidence that 0.5-1% of cases develops endometriosis-associated ovarian neoplasms that are more represented by the endometrioid and clear-cell subtypes of tumors. This category also includes seromucinous ovarian tumors (SMOTs). Objective. To investigate the morphological and immunohistochemical (IHC) features of SMOTs in reproductive-aged women, including pregnant ones. Subjects and methods. Ovarian tumor samples from 15 patients who had been operated on in 2012-2016 were analyzed comprehensively at the National Medical Research Center of Obstetrics, Gynecology, and Perinatology: IHC examination was conducted using the biomarkers of estrogen and progesterone receptors and Ki-67. Results. Borderline SMOTs were characterized by papillary growths on the inner surface (in one case) and on the outer surface, with an adhesive process with the serous surface of the corpus uteri (FIGO Stage 1c), and mixed epithelial structures; leukocyte infiltration was observed in 4 cases. The epithelium of seromucinous carcinoma (n = 1) was similar to that of serous, endocervical, and endometrial types at the same time. All the samples exhibited a low Ki-67 expression and high positive receptor immunoreactivity. Endometriosis diagnosed in nine women was accompanied by benign seromucinous cystadenomas (n = 4), borderline tumors (n = 4), and carcinoma (n = 1). Conclusion. Most of the examined SMOTs showed the areas, covered with the endometrioid epithelium, with adjacent endometrial stroma, which indicated the development of carcinoma in the presence of endometrioid cyst. The revealed facts suggest that endometriosis plays an etiological role in developing SMOTs. When detected, most neoplasms are localized (limited to ovarian tissue, FIGO stage 1a) and characterized by a favorable prognosis as a whole.
Obstetrics and Gynecology. 2018;(7):84-91
pages 84-91 views

Surrogacy: law and practice

Basova A.V., Komkova G.N., Romanovsky G.B.

Abstract

Objective. To analyze modern literature on the legal regulation of surrogacy for Russian and foreign citizens. Materials and methods. The review presents the results of a systems analysis of foreign and Russian legislations and literature on the population’s rights to surrogacy. Results. The investigation revealed the present-day problems of legal regulation of surrogacy in the Russian Federation. Conclusion. The current surrogacy law has been proposed to be changed.
Obstetrics and Gynecology. 2018;(7):92-96
pages 92-96 views

Experience of prolonged use of dienogest in the treatment of endometriosis

Olina A.A., Meteleva T.A.

Abstract

Background. Endometriosis is a chronic benign growth of endometrial-like tissues outside the uterine cavity. In the world, 6-10% of women of reproductive age are found, therefore, organ-preserving patience is the most preferred method of treatment. Progestins are the first-line drugs. Description. This article presents two clinical observations of patients with adenomyosis, long-term (over 6 years) use dienoguest (visanne) at a dose of 2 mg per day. Against the background of the drug, there is a marked improvement in health, a decrease in the level of pain syndrome, a decrease in the size of the uterus according to ultrasound. Conclusion. The presented clinical observations allow to recommend long-term therapy of adenomyosis with dienogest 2 mg (visanna drug), and confirm the high level of efficacy and safety of long-term therapy.
Obstetrics and Gynecology. 2018;(7):97-102
pages 97-102 views

Local antibacterial therapy in the combination treatment of patients with HPV-associated diseases of the cervix uteri

Kononova L.N., Kareva E.N.

Abstract

Objective. To investigate the clinical efficacy of Elgyna in the medical treatment of human papillomavirus (HPV)-associated cervical intraepithelial neoplasias (CIN). Subject and methods. The results of antibacterial therapy prior to destructive treatment were comparatively analyzed in 53 patients with severe dysbiosis in HPV-associated CIN. A study group included 27 patients who took the combined drug Elgyna as one vaginal tablet twice daily (6 administrations); a comparison group of 27 patients received the combined drug Tergynan as one vaginal tablet twice daily (6 administrations). A control group comprised 20 women with the visually unchanged cervix. All the women underwent standard examinations and vaginal microbiocenosis estimation by RT-PCR assay using the Femoflor test. Results. The use of the combined drug Elgyna during medical treatment before destruction was found to normalize molecular biological parameters at the local level and contributes to a significant reduction in the time of epithelialization and a decline in the number of recurrences. Conclusion. HPV-associated cervical neoplasias are accompanied by the development of pronounced dysbiotic processes in the vagina with the predominant involvement of obligate anaerobes. Taking into account the properties of the combined drug Elgyna that provides a normalizing effect on the parameters of biocenosis in accelerating healing and in preventing a recurrence of the process, it is appropriate to prescribe the drug before destructive treatments.
Obstetrics and Gynecology. 2018;(7):103-107
pages 103-107 views

Biochemical tests for the diagnosis of high risk of preterm birth

Dikke G.B.

Abstract

According to the results of clinical studies published in the English and Russian literature in open databases the author has determined the significance and effectiveness of biochemical tests for the diagnosis of preterm birth. The definition of PAMG-1 for the diagnosis of preterm labor has sensitivity values of 84%, specificity is 95%, positive predictive value is 77% and negative prognosis is 97% and is a more reliable method than determining fFN, fPSIFR-1 or measuring cervical length and is associated with a reduction in f inancial costs. The use of the test kit for determining PAMG-1 is the most effective in comparison with other methods and allows to avoiding incorrect diagnosis and unnecessary hospitalization.
Obstetrics and Gynecology. 2018;(7):108-112
pages 108-112 views

A new TNM classification of malignant tumors of the ovary, fallopian tube, and peritoneum

Pavlov K.A., Dubova E.A., Arkhipova V.I., Shmakov R.G., Pirogova M.M., Lishchuk S.V.

Abstract

The changes in the 8th edition of the TNM classification of malignant tumors of the ovary, fallopian tube, and peritoneum, by examining the 2013 FIGO classification were reviewed; a rationale for these changes was provided. The paper presents the new 8th edition of the TNM classification of malignant tumors of the ovary, fallopian tube, and peritoneum, which is based on the 2013 FIGO classification. It describes in detail the key differences between the new classification and the previous one, as well as the features of using the new classification in clinical practice. In addition, there is concise information on the epidemiology of ovarian tumors, as well as modern views on their etiology. The main innovations of this classification are as follows: its inclusion of tumors of the fallopian tube and peritoneum; the importance of identifying the histological type of a tumor and the degree of its differentiation; assignment of isolated lesions of the retroperitoneal lymph nodes to stage IIIA; differentiation of tumor extension from the peritoneum into the hepatic or splenic parenchyma (stage IIIC) and that of isolated metastases in the parenchyma of these organs (stage IVB).
Obstetrics and Gynecology. 2018;(7):114-119
pages 114-119 views

Possibilities of organ-sparing surgery for adenomyosis in the context of reproductive function preservation

Rukhlyada N.N., Krylov K.Y., Biryukova E.I.

Abstract

Reproductive function is one of the major functions from the point of view of women’s health. The problem of choosing a rational surgical tactic for adenomyosis remains relevant at the present time. The lack of consensus on the possibilities of organ-sparing surgical treatment and the relationship of its results to the clinical and morphological form of the disease requires in-depth study of this issue. This review article summarizes the authors’ own and international experience with breast-sparing surgery for adenomyosis. It comparatively analyzes the efficiency of some operations to restore or preserve the reproductive function of patients.
Obstetrics and Gynecology. 2018;(7):120-124
pages 120-124 views

Fulminant massive obstetric hemorrhage in the second trimester of pregnancy in the presence of uterine arteriovenous malformation and placenta increta

Belokrinitskaya T.E., Deikova E.Z., Goncharova M.A., Filippov O.S.

Abstract

Background. Uterine arteriovenous malformation (AVM) is a rather rare condition that can cause life-threatening obstetric hemorrhage. AVMs are classified as congenital and acquired. Acquired uterine AVMs result from previous uterine operations (diagnostic or therapeutic curettages, cesarean section, myomectomy, etc.) or myometrial morphological changes (adenomyosis, metroendometritis, trophoblast diseases, etc.). In recent years, the world has seen a substantial increase in the frequency of cesarean section; in parallel, there have been increasingly more publications on the detection rates of uterine AVM. Case report. The paper describes a case of maternal mortality from fulminant massive obstetric hemorrhage in the second trimester of pregnancy in the presence of uterine AVM and placenta increta. Conclusion. The data obtained from the analysis of the case may be useful in predicting this pregnancy complication in risk group patients.
Obstetrics and Gynecology. 2018;(7):126-131
pages 126-131 views

Mutation in the Janus kinase 3 gene in the presence of severe combined immune deficiency

Padrul M.M., Olina A.A., Lebedko E.V.

Abstract

Background. In a complex demographic situation, it is extremely important to investigate the causes of infant and child deaths not only in medical terms, but also from a social point of view. The most difficult task is to look for genetic mutations as a cause of the birth of sick children. Taking into account the fact that a large number of variants of genetic mutations have been currently described, some of which have not yet proven to be of clinical value, the description of each clinical case is of scientific and practical importance. Case report. The paper describes the clinical case of a female patient with Janus kinase 3 (Jak3) gene mutation (nucleotide substitution of c.1208G>A in the heterozygous state). The mutation was detected by genetic testing after the death of two babies whose ages were 1 year 3 months and 4 months. Conclusion. The described clinical case contributes to the study of the clinical significance of Jak3 gene mutation. The presence of this mutation in the parents results in severe combined immune deficiency due to Jak3 deficiency in their offspring. The clinical significance of this mutation remains the subject of further investigation.
Obstetrics and Gynecology. 2018;(7):132-134
pages 132-134 views

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies