Ukrainian Journal of Perinatology and Pediatrics

State of local immunity in women in labor with obstetric surgical wound infection in war conditions

2024-04-28T19:23:55+03:00

Purpose - to study indicators of local immunity in the wound of women giving birth with an infection of an obstetric surgical wound in the conditions of war, which will give an opportunity to improve the therapy of wound infection at the present time.

Materials and methods. Local immunity in the wound of 66 parturients with infected wounds during the war (the Group I) was studied and compared with indicators of local immunity in the wound of 76 parturients with infected wounds in peacetime (the Group II) six years to 2022. In addition, 15 healthy parturients - clinical remission (the Group III) were examined to determine the features of the course of the wound process. To study local immunity, the number of immunocompetent cells and phagocytic activity in biopsies from wounds, fixed immunoglobulins in smears-imprints were determined using the direct immunofluorescence method. Statistical data processing was carried out with the use of the application program package "Microsoft Excel 5.0" and the standard version "Statistica 8.0". The difference in indicators at Р<0.05 was considered statistically probable.

Results and conclusions. In the examined women in labor with an infection of an obstetric surgical wound in the conditions of war under stressful conditions, there is a greater suppression of local immunity than in women in labor with this pathology in peacetime, which is expressed in the insufficient migration of immunocompetent cells to the focus of inflammation of the wound, especially B-lymphocytes, in the predominance of smears-imprints of plasma cells producing immunoglobulins of classes M and G, which lead to increased inflammation, inhibition of reparative processes in the wound, progression of the purulent-inflammatory process with the risk of septic complications during martial law, which leads to the correction of purulent wound therapy in obstetric practice during the war .

The research was carried out in accordance with the principles of the Declaration of Helsinki. The research protocol was approved by the Local Ethics Committee of the institution mentioned in the work. Informed consent of the patients was obtained for the research.

Characteristic of epigenetic factors of fertile aged women residents of the Kyiv city of Ukraine who have undergone coronavirus infection

2024-04-28T19:51:20+03:00

This study highlights the critical importance of understanding the impact of epigenetic risk factors on COVID-19 among women of fertile age.

Purpose - to characterize the epigenetic factors of COVID-19 in women of childbearing age, residents of Kyiv city who have had coronavirus infection, identified as a result of clinical and epidemiological studies.

Materials and methods. This research investigates the potential epigenetic risk factors for COVID-19 onset and progression in women of childbearing age in the Kyiv city. An original, comprehensive questionnaire designed to capture a wide range of health and socio-biological risk factors was disseminated among 100 women. Follow-up examinations and interviews were conducted with 97 of these women.

Results. The study revealed that a notable proportion of the surveyed women experienced adverse working conditions. 12.4% reported infrequent exposure to chemically harmful environments. About 12.4% indicated consistent and 10.3% intermittent work-related nervous strain. Furthermore, 15.5% of the respondents identified infrequent physical hazards at their workplace, while 19.6% experienced occupational harm. Among male partners, 4.1% frequent and 4.1% occasionally had contact with harmful vapours or chemicals at work. Epigenetic risk factors were determined using a clinical genealogical map. Occupational harm was absent before and after COVID-19 infection in 35.0% and 33.0% of women, respectively. Regarding harmful habits, 9.3% and 2.1% of women engaged in tobacco smoking before and after COVID-19 infection, respectively, whereas 9.3% and 36.8% did not consumed alcohol. Past illnesses, such as rubella and allergy, were identified as potential epigenetic factors in 3.1% and 11.3% of women.

Conclusions. It was established that among the identified epigenetic risk factors that can directly or indirectly affect the spread of coronavirus infection in women, residents of the city of Kyiv, the following require special attention of the doctor: presence of contact with physical and chemical agents, transferred diseases and conditions (rubella in 3.1 % of women), allergy (in 11.3% and 13.4% of women before and after the disease).

The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of the participating institution. The informed consent of the patient was obtained for conducting the studies.

No conflict of interests was declared by the authors.

The features of the functioning of the fetoplacental complex in pregnant women with an allogeneic fetus

2024-04-28T20:13:30+03:00

Aim - to determine the features of the functional state of the fetoplacental complex (FPC) in pregnant women with an allogeneic fetus and pregnant women who were involved in assisted reproductive technology (ART) programs using their own oocytes.

Materials and methods. 77 pregnant women were examined. They were divided into two groups: Group I (main) - 39 women who became pregnant as a result of ART using donor oocytes with the formation of an allogeneic fetus; Group II (comparison) - 38 patients who became pregnant as a result of ART using their own oocytes. Statistical processing of research results was carried out using standard Microsoft Excel 5.0 and Statistica 6.0 programs.

Results. Pregnant women with an allogeneic fetus are characterized by significantly lower levels of pregnancy-associated plasma protein-A (PAPP-A) and placental growth factor (PlGF), determined at 11-13⁺⁶ weeks of pregnancy, and human chorionic gonadotropin (hCG) and alpha-fetoprotein (AFP) levels, measured at 16-18⁺⁶, compared with a group of women whose own oocytes were used as part of ART programs. In the women of Group I, significantly higher levels of systolic-to-diastolic ratio (SDR) and pulsatility index (PI) of both uterine arteries, resistance index (IR) of the left uterine artery at 20-24 weeks of pregnancy, as well as levels of PI and SDR of the umbilical artery, IR and PI of both uterine arteries and SDR determined for the left uterine artery at 28-31⁺⁶ weeks of pregnancy. In Group I, a significantly lower fetal abdominal circumference was found in comparison to Group II at 28-31⁺⁶ weeks of pregnancy.

Conclusions. The presence of deviations in the indicators of FPC functioning among women of Group I indicates the need for further research of this problem and development of an improved surveillance program for pregnant women with an allogeneic fetus.

The research was carried out in accordance with the principles of the Declaration of Helsinki. The study protocol was approved by the Local Ethics Committee of the institution indicated in the work. The informed consent of the patient was obtained for conducting the studies.

No conflict of interests was declared by the authors.

The effect of chronic НBsAg carriage on the course of pregnancy, childbirth and the functional state of the liver of women with hepatitis B virus

2024-04-28T20:26:59+03:00

The problem of the hepatitis B virus (HBV) in pregnant women is complex and insufficiently studied, although it complicates the course of pregnancy and childbirth and worsens the perinatal consequences. It is important to conduct a multifocal examination of pregnant women with HBV with an assessment of the functional state of the liver, fetoplacental complex to minimize pathological conditions in the woman and the fetus.

Purpose - to retrospectively analyze the epidemiological, clinical, and laboratory characteristics of pregnant women with HBV; to identify any effects of viral infection on liver function, pregnancy, delivery, and early perinatal outcomes.

Materials and methods. A retrospective analysis was conducted with a comprehensive assessment of clinical and laboratory examinations of 320 pregnant women, who were divided into 2 groups: the Group I - 180 pregnant women with HBV, the Group II - 140 women with a physiological course of pregnancy. The anamnesis, clinical laboratory and instrumental studies of the functions of the liver, placenta and the course of pregnancy were evaluated.

Results. In pregnant women of the Group ІІ, the pathology of the gastrointestinal tract was at the level of 33.89%, gestosis of the first half of pregnancy - 27.22%, anemia of pregnancy - in 17.22% and the threat of abortion - in 15.00%, signs of the placental dysfunction were diagnosed in 51.67% of women. In the second half of pregnancy, preeclampsia was diagnosed in 19.44%, and the threat of premature birth - in 27.22%, anomalies of labor activity (22.78%), uterine bleeding (10.55%) and untimely discharge of amniotic fluid were three times higher (50.55%), fetal distress developed in 6.11% of cases.

In women of the Group I, intranatal asphyxia developed in 13.88%, intrauterine fetal development delay in 2.60%, the morbidity of infants was at the level of 23.33% (р<0.005), in particular, hypotrophy (8.88%), hemorrhagic syndrome (3.33%) and hyperbilirubinemia (11.11%). In the postpartum period, 20.00% had inflammatory complications.

Conclusions. The hidden course of HBV during pregnancy leads to negative antenatal consequences. Changes in the indicators of the main functions of the liver were detected, which in turn can lead to disability.

The research was carried out in accordance with the principles of the Declaration of Helsinki. The research protocol was approved by the Local Ethics Committee of all institutions mentioned in the work. Informed consent of the women was obtained for the research.

No conflict of interests was declared by the authors.

Peculiarities of the hormonal function of the placenta in women who had complications from the group of major obstetric syndromes, clinically manifested by placental insufficiency

2024-04-28T20:57:10+03:00

Purpose - to study the peculiarities of the hormonal function of the placenta during pregnancy in women who had complications from the group of major obstetric syndromes (MOS), clinically manifested by placental insufficiency, in order to further develop an algorithm for the prevention of this complication.

Materials and methods. During the gestational process, the content of hormones: estradiol (E2), progesterone (PG), human chronic gonadotropin (hCG) and placental lactogen (PL) was determined in 99 pregnant women - the main group (MG) who had complications from the group of MOS, placental insufficiency (PI). The control group (CG) consisted of 50 practically healthy pregnant women with a healthy reproductive history and an uncomplicated course of this pregnancy, Statistical processing of research results was carried out using standard Microsoft Excel 5.0 and Statistica 6.0 programs.

Results. During the entire gestational period, the level of E2, PL, hCG, and PG in pregnant women with MOS (MG) is significantly lower than in pregnant women with CG (p<0.05). In the dynamics of the gestational process in MG patients, there is a significant lag in PG level indicators compared to indicators in CG: in 9-28 weeks - 46.4±4.24 nmol/l versus 162.6±22.10 nmol/l, respectively; p<0.05 (3.5 times less), in 29-34 weeks - 128.9±6.80 nmol/l versus 294.2±34.62 nmol/l, respectively; p<0.05 (2.3 times less), in 35-41 weeks - 148.2±2.26 nmol/l versus 434.6±56.70 nmol/l, respectively; p<0.05 (2.9 times less).

Conclusions. From the early stages of pregnancy, moderate hormonal dysfunction was detected in pregnant women with MOS in the form of a probable decrease in the levels of PL, PG, E2 and hCG compared to similar indicators in CG. In the future they have an unstable state of impaired placental hormonal function, which leads to the exhaustion of the adaptive reserves of the system mother-placenta-fetus in the form of a violation of the synthesis of key regulatory hormones responsible for the favorable course of gestation, the development and functioning of intrauterine life support systems.

The research was conducted according to principles of Declaration of Helsinki. Protocol of research was proved by local ethical committee, mentioned in institution’s work. Women's informed consent was obtained for the study.

No conflict of interests was declared by the author.

Consequences of giving birth to women carriers of antibodies to thyroid peroxidase

2024-04-28T21:12:28+03:00

Aim of the research - to analyze obstetric and perinatal complications of pregnancy and childbirth, the condition of newborn babies, pregnant women carriers of antibodies to thyroid peroxidase (TPOAb) in order to improve the effectiveness of their diagnosis and prevention.

Materials and methods. A retrospective study was conducted of 140 histories of pregnancy and childbirth of women carriers of TPOAb, as well as the histories of their newborns - the main group (MG).The criteria for inclusion in the main group was the presence of an TPOAb titer higher than 100 IU/ml. The comparison group (CG) consisted of 40 birth histories of women without an elevated level of TPOAb, somatic pathology and with a physiological course of the gestational period, as well as 40 histories of their newborns. Statistical processing of research results was carried out using standard Microsoft Excel 5.0 and Statistica 6.0 programs.

Results. It was established that female patients carrying TPOAb have a higher percentage of the following gestational complications: threats of termination of pregnancy (pregnancy in MG was terminated in 6 cases: frozen pregnancy in 2 (1.4%) cases, spontaneous abortion in the I trimester - 3 (2.1%) cases, spontaneous abortion in the II trimester - 1 (0.7%) case; threats of premature birth - 13 (9.3%) cases; fetal growth restriction syndrome - 8 (5.7%) cases; preeclampsia 22 (15.7%) cases against 2 (5.0%), p<0.001. Premature birth was observed only in MG patients and accounted for 24 (17.9%) cases. The rate of pathological labor was significantly different in the research groups. A high specific weight of pathological births childbirth was observed in women carriers of TPOAb - 47 (35.1%) cases in CG versus 4 (10.0%) cases in CG, p<0.05. Cesarean section was performed in 38 (27.1%) patients MG and 3 (7.5%) pregnant women CG.

Conclusions. In the course of the retrospective study, it was revealed that women carriers of TPOAb have a higher percentage of the development of such gestational and perinatal complications as the threat of abortion and miscarriage, fetal distress, preeclampsia of various degrees of severity, pathological childbirth and asphyxia of newborns compared to patients with normal level of TPOAb.

The research was conducted according to principles of the Declaration of Helsinki. The study protocol was approved by the Local Ethics Committee of the institution indicated in the work.The informed consent of women was obtained for conducting the study.

No conflict of interests was declared by the authors.

The effect of drug dependence on the level of lipid peroxidation in women with chronic inflammatory diseases of the genital organs caused by sexually transmitted infections

2024-04-28T21:25:05+03:00

Oxidative stress, induced by drug addiction, and its consequences for women's reproductive health, especially in the context of chronic inflammatory diseases of the genital organs caused by sexually transmitted infections (STIs), is one of the significant areas of impact.

Aim - to assess the effect of drug addiction on the level of lipid peroxidation (LPO) in women with chronic inflammatory diseases of the genital organs caused by sexually transmitted infections (STIs), which will allow to further determine the ways of correcting the detected changes.

Materials and methods. The study investigated the level of LPO in 60 women with chronic inflammatory diseases of the genital organs caused by sexually transmitted infections and with drug and psychotropic substance dependence. Women were divided into 3 groups depending on the quality of drugs and psychotropic substances they abused: the Group 1 - 25 women addicted to several drugs; the Group 2 - 25 women addicted to opioids; the Group 3 - 10 women addicted to sleeping pills or sedatives.

The intensity of LPO and the state of the antioxidant system were assessed by the spectrophotometric method. Statistical data processing was performed using the “Data Analysis” package in Microsoft Excel.

Results. The study showed that women with drug addiction exhibit increased levels of LPO, indicating a disruption of the antioxidant system and increased formation of free radicals. This can cause damage to cellular membranes and other biomolecules. The use of synthetic opiate receptor antagonist drug in treatment contributed to the normalization of these indicators, pointing to the restoration of the antioxidant system and reducing the risk of further oxidative stress.

Conclusions. Drug dependence causes an increase in oxidative stress in women with STIs, which negatively affects their reproductive health. The synthetic opiate receptor antagonist drug can be effective in reducing the levels of LPO and improving the condition of patients.

The research was conducted according to principles of Declaration of Helsinki. Protocol of research was proved by local ethical committee, mentioned in institution’s work. Informed consent of women was obtained for the study.

No conflict of interests was declared by the authors.

Clinical features of the course of Hirschsprung’s disease in newborns and infants with consideration of the extent of colonic aganglionosis

2024-04-28T21:41:06+03:00

The clinical course of Hirschsprung’s disease (HD) in newborns and infants depends on the extent of сolonic aganglionosis, the age of patient, the presence of associated malformations and complications.

The aim - to study the peculiarities of the clinical course of HD in newborns and infants.

Materials and methods. An analysis of the clinical course of HD in 483 in newborns and infants. There were 100 (20.71%) patients with the rectal, 192 (39.75%) with rectosigmoid, 150 (31.05%) with subtotal, and 41 (8.49%) with total form of HD. 98 (20.29%) patients were found to have associated malformations.

Results. 64 (13.25%) patients with a rectal form, 72 (14.91%) - with rectosigmoid, 150 (31.05%) - with subtotal, and 41 (8.49%) with total form had an acute clinical course and subacute clinical course was observed in 36 (7.45%) patients with rectal and 120 (24.85%) with rectosigmoid forms of HD. 327 (67.70%) infants with HD were diagnosed with varying degrees of hypotrophy, 315 (65.22%) had HD-associated enterocolitis, 16 (3.31%) had toxic megacolon, and 241 (49.89%) patients had varying degrees of anemia.

Conclusions. In the presence of associated malformations in newborns and infants, in 8.07% of cases, clinical symptoms may prevail over the classic signs of HD. The severity of the course and late diagnosis are the main reasons for the appearance of severe complications of HD in newborns and infants - hypotrophy (67.70%), HD-associated enterocolitis (65.22%), toxic megacolon (3.31%) and anemia (49.89%).

No conflict of interests was declared by the authors.

The level of serum matrix metalloproteinase-1 and tissue inhibitor of matrix metalloproteinase-1 in newborns from mothers with undifferentiated connective tissue dysplasia

2024-04-28T22:04:34+03:00

Laboratory markers of undifferentiated connective tissue dysplasia (UCTD) are indicators of the matrix metalloproteinases (MMP) system, which are involved in the remodeling of connective tissue components, morphogenesis, inflammation.

Purpose - to analyze the correlation between signs of UCTD in postpartum women and the level of serum MMP-1, tissue inhibitor of MMP-1 (TIMP-1) and the MMP-1/TIMP-1 ratio in newborns.

Materials and methods. We examined 122 women in labor and their 122 newborn children with a gestational age (GA) of 28-42 weeks, a body weight (BW) of 1270-4070 g. Clinical and anamnestic data and biochemical markers (level of serum MMP-1, TIMP-1, MMP-1/TIMP-1) were investigated in children. Clinical signs of UCTD in women in labor were registered. The main group (n=82) involved women with ≥3 UCTD markers, the control group (n=40) consisted of women with ≤2 UCTD features and their newborns. Accordingly, the main group of newborns - children from mothers with ≥3 markers of UCTD, the control group - babies from mothers with ≤2 signs of UCTD. For statistical analysis, Mann-Whitney (U) test and Cramer’s coefficient (φ_c) were used.

Results. Newborns of the main group had a longer GA (U=1069.5; p=0.002), a lower Apgar score (U=1522.5; p=0.04), a smaller weight-for-age ratio (U=1511.0; p=0.038), higher concentrations of MMP-1 (U=55.0; p=0.000013) and higher values of the MMP-1/TIMP-1 (U=76.0; p=0.000323). The optimal range of MMP-1 in newborns is 2.72-3.91 ng/ml, TIMP-1 - 16.08-17.49 ng/ml, MMP-1/TIMP-1 - 0.16-0.24. MMP-1 concentration ranges ≥4.51 ng/ml and MMP-1/TIMP-1 values ≥0.31 were more typical for full-term infants (p<0.01) than prematurely born, and for children with lower BW (p<0.01). UCTD-associated obstetric complications were related to ranges of MMP-1 ≥4.51 ng/ml (p<0.001-0.05), TIMP-1 ≤16.07 ng/ml (p<0.05), MMP-1/TIMP-1 ≥0.31 (p<0.001-0.05) in children.

Conclusions. UCTD in parturient mothers is an unfavorable factor in the formation of small weight-for-age ratio (p=0.038), a low postnatal adaptation (p=0.04), imbalance of serum MMP-1 (p=0.000013) and MMP-1/TIMP-1 (p=0.000323) in children. The optimal level of serum MMP-1 for newborns is 2.72-3.91 ng/ml, TIMP-1 - 16.08-17.49 ng/ml, MMP-1/TIMP-1 - 0.16-0.24. The values of MMP-1 ≥4.51 ng/ml and MMP-1/TIMP-1 ≥0.31 are markers of delayed physical development of the fetus (p<0.01). UCTD-associated obstetric complications are prognostically unfavorable for imbalance of MMP-1, TIMP-1, MMP-1/TIMP-1 in newborns.

The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of an institution. The informed consent to participate in the study was obtained from each mother.

No conflict of interests was declared by the authors.

Extrahepatic portal vein obstruction in children of the first year of life: diagnostic and treatment approaches

2024-04-28T22:36:51+03:00

Extrahepatic portal vein obstruction (EHPVO) is an important cause of symptomatic portal hypertension (PH) in pediatric population. PH may lead to serious complications including variceal bleeding and hypersplenism. Literature data on infants under 12 months old with EHPVO is poor.

Aim - to analyze our experience in treatment of children with symptomatic PH in children of the first year of life, the peculiarities of the course of EHPVO in them, and acknowledge readers with diagnostic algorithm of patients with EHPVO that ensures the timely start of treatment and reduce the risk of life-threatening complications.

Materials and methods. 11 patients who were diagnosed with EHPVO before age of 12 month are included into the study. All patients underwent in-hospital treatment in National Specialized Children’s hospital “Okhmatdyt” in a period since 2006 to 2022.

Results. Among 11 patients of the group, 7 (63.6%) were males. Mean age at diagnosis was 6.02±0.67 months. 9 (83.8%) patients had umbilical catheter in anamnesis. 7 (63.6%) patients manifested bleeding episodes. Ultrasonography and enhanced computed tomography was performed in all patients. Endoscopically all patients had high grade varices. 8 (72.7%) patients underwent surgical interventions. Median hospital stay duration in children with bleeding was 36 (95% CI: 28-56) days, and 17 (95% CI: 14-22) days in children without bleeding (p<0.003).

The success of primary surgical interventions was assessed with Kaplan-Meyer test. Median overall survival was reached at 920 days after initial surgery; primary surgical intervention survival 0.417 (95% CI: 0.205-0.072).

There was zero mortality in the study group.

Conclusions. Newborns and infants with anamnesis of umbilical catheterization should be followed up closely by ultrasound imaging specialist. Patients with suspected PH are to be immediately referred to endoscopy and computed tomography in specialized center. Timely diagnosis, current endoscopic band ligation success in variceal bleeding primary prophylaxis would ensure further successful surgery and shorter hospital stay.

No conflict of interests was declared by the authors.

The use of vacuum bell therapy for the treatment of pectus excavatum in children of the younger group: the dynamics of changes in echocardiography

2024-04-28T22:54:01+03:00

Pectus excavatum (PE) si common disease among children, which in most cases manifests during the period of intensive growth. Children with PE may have asymptomatic changes in the heart and may not cause concern for some time.

Purpose - to evaluate of the dynamics of echocardiography changes during conservative treatment of PE by vacuum bell therapy.

Materials and methods. An evaluation of 28 patients with an average age of 6.4±1.2, who underwent conservative treatment of PE, was carried out. Cardiac ultrasound data before and after treatment were processed statistically.

Results. After treatment, signs of mitral valve prolapse in children remained, that is, there were no qualitative changes. But the overall level of prolapse decreased statistically significantly (p=0.042) from 1.97±0.87 mmHg. to 1.73±0.69 mm Hg. Paradoxical movement of the interventricular membrane was not a frequent defect and before treatment was observed only in 5 (17.9%) children. After treatment, this defect was not noted.

Myocardial function in all children was normal (>60%) both before treatment (69.86±8.21%) and after (68.54±2.67%).

Conclusions. In pediatric population disturbances in the work of the heart with PE are often in a compensated or subcompensated state, but in the future they can lead to functional disorders.Screening use of echocardiography is recommended for all children with manifestations of funnel-shaped chest deformity.

No conflict of interests was declared by the authors.

Determination of the volume of blood loss in prenatal and postnatal obstetric bleeding (clinical cases)

2024-04-29T00:11:02+03:00

Purpose - to analyze the amount of blood loss in prenatal and postpartum obstetric bleeding based on clinical cases. During the period from 2020 to 2022, on the basis of the Communal Enterprise «Regional Medical Center of Family Health» in Dnipro, an algorithm for quantitative determination of blood loss was implemented.

Clinical case 1. A 38-week pregnant woman was admitted with complaints of slight bleeding from the genital tract, which was not accompanied by pain. Diagnosis: «II pregnancy 38 weeks». The main presentation. Placenta previa (signs of placental abruption). Initially, blood smears up to 50.0 ml were determined. After 2 hours, blood loss was repeated and estimated at 250.0 ml (total blood loss 300.0 ml). Consilium decided to perform cesarean section (C-section). A girl was born, weighing 3450 g, with an Apgar score of 7/8. The total blood loss after KR was 850.0 ml.

Clinical case 2. The pregnant woman entered the hospital for delivery with a diagnosis: 3rd pregnancy of 36 weeks, placenta increta (invasion of the placenta into the muscular layer of the uterus), for C-section, During C-section, placental invasion through the uterine muscle layer into the bladder was diagnosed. The total blood loss after the operation was 5870.0 ml. The main complication in this case is usually a massive bleeding. To control the volume of blood loss, a protocol was used to quantify the amount of blood loss with the calculation of the rate of bleeding per minute, which helped both obstetricians to control the stages of surgical treatment and anesthesiologists to consider infusion-transfusion therapy in relation to the degree of blood loss.

Conclusions. In those cases when doctors control bleeding up to 250.0 ml, they use a visual method of assessing blood loss, more often this is the case with prenatal bleeding. In other cases, it is advisable to use a quantitative assessment of postpartum blood loss, this largely determined the timeliness of obstetric care, the implementation of balanced intensive infusion-transfusion therapy, the reduction of blood loss volumes, which led to the minimization of the use of donor blood preparations, and organ-preserving technologies were more often used in the provision of emergency care for obstetric bleeding.

The study was performed in accordance with the principles of the Declaration of Helsinki. Informed consent of women was obtained for the study.

No conflict of interests was declared by the author.

Polymorphism of clinical manifestations of orphan diseases in children with ARID1A and ARID1B gene mutations

2024-04-29T00:26:40+03:00

The Department of Psychoneurology for Children with Perinatal Pathology and Orphan Diseases at the SI “Institute of Pediatrics, Obstetrics and Gynecology named after academician O.M. Lukyanova of the NAMS of Ukraine” has a multidisciplinary team which provides care to children with orphan diseases from all over Ukraine. Thanks to modern methods of clinical, instrumental and genetic diagnostics, it is possible to establish a definitive diagnosis.

Aim - to provide a literature review and a clinical case of a child with pathogenic variants of the ARID family genes, which, in particular, lead to the development of Coffin-Circe syndrome (CCS), autism spectrum disorder and intellectual disability, as well as the development of nervous system tumors in children.

The article presents a clinical case of a child with a rare disease - CCS, which is part of the ARID gene mutation spectrum. The general clinical and neurological examination, electroencephalographic sleep monitoring, magnetic resonance imaging, whole-exome sequencing, and pathological examination were performed. The difficulty of diagnosis was that a child with skin manifestations of phacomatosis was diagnosed with subependymal giant cell astrocytoma (SGСA) by magnetic resonance imaging, but there were no mutations characteristic of tuberous sclerosis (TSC1, TSC2). Pathologically, the patient was confirmed to have grade I SGСA according to the World Health Organization classification. Two pathogenic mutations of the ARID1A gene in the compound heterozygous state were detected by whole-exome sequencing. After combining the combined clinical and instrumental signs, the diagnosis of CCS with grade I SGСA was established.

Conclusions. The disorders caused by ARID1A and ARID1B mutations belong to a spectrum that includes syndromic and non-syndromic cases of intellectual disability, autism spectrum disorder, and CCS with or without a variety of somatic and neurological symptoms, and are grouped under the general term “ARID-related disorders”. Only a thorough medical history, clinical examination, and modern methods of instrumental and genetic diagnostics can make a diagnosis.

The research was carried out in accordance with the principles of the Declaration of Helsinki. Informed consent of the women was obtained for the research.

No conflict of interests was declared by the authors.

Allergic diseases in children: a modern view on the problem

2024-04-28T23:12:17+03:00

Aim: review of modern data of scientific medical literature regarding the prevalence, comorbidity, risk factors, features of pathogenesis, diagnosis, principles of treatment and prevention of allergic diseases in children.

In recent years, the number of allergic diseases (ADs) has been increasing, especially among children. Approximately 20% of the world's population suffers from these diseases. Comorbid ADs are quite common. Thus, in 67–85% of children, allergic rhinitis is combined with bronchial asthma. Children with atopic dermatitis are diagnosed with allergic rhinitis in 61,8% of cases, and bronchial asthma in 29,4% of cases. The risk of developing bronchial asthma or allergic rhinitis is higher in children with food polysensitization, and infants and young children with atopic dermatitis have a high risk of developing both food allergy and asthma and allergic rhinitis. According to modern data, most ADs have common causal mechanisms. In the development and progression of asthma and allergic rhinitis and atopic dermatitis, the hypotheses of mechanistic damage of the epithelial barrier and biodiversity, related to each other, are considered. In ADs, mechanisms related to allergen-specific immunoglobulin E and non-allergic coexisting mechanisms play an important role. In addition, views on the formation of the sequence of the development of ADs ("allergic march") from the perspective of multimorbidity and phenotyping are increasingly expanding. Pathogenetic treatment of ADs is aimed at controlling the chronic T-helper 2, caused by the inflammatory process in target organs. Secondary and tertiary prevention of ADs in the early stages improves the quality of life of patients and improves the course of atopic conditions.

Conclusions. The prevalence of ADs in modern conditions is pandemic in nature. The hypothesis of mechanical damage to the epithelial barrier is significant in the development of ADs. ADs, in particular in children, can be combined, creating multi- and comorbid conditions, and aggravate the course of these diseases. Timely diagnosis of ADs is important, and a personalized approach to the treatment and prevention of ADs is considered the most rational.

An effective integrated program of neonatal screening - as a modern direction of diagnosis of hereditary metabolic diseases in children (literature review)

2024-04-28T23:33:29+03:00

Today’s challenges contribute to technological progress in various fields of medicine.

The introduction of extended neonatal screening (ENS) for hereditary metabolic diseases (HMDs) became the basis for the revolution of modern diagnostic technologies. Tandem mass spectrometry (TMS) technology has become a real breakthrough in the laboratory diagnosis of a number of HMDs, with the help of which it is possible to quickly determine the concentrations of dozens of different metabolites in a minimum amount of biological material at the same time.

Purpose - to summarize the literature data on the current state, progress, and prospects of extended neonatal screening for hereditary metabolic diseases.

We retrospectively analyzed the data of modern medical literature on ENS programs and investigated the issues of genomics and metabolomics in the practice of screening for HMDs according to scientometric databases: GoogleScholar, NCBI Pubmed, Cochranelibrary. The historical aspects of the formation and application of such a method of modern laboratory diagnosis of HMDs as tandem mass spectrometry are considered separately. Data on the role of genomics and metabolomics in the practice of neonatal screening for inborn errors of metabolism are also presented.

Since the identification of patients by performing ENS provides an opportunity to expand knowledge about the genesis, frequency, genotype/phenotype correlation, and thus preliminary diagnosis and treatment benefit both the health care system and society. Thanks to exome and genome sequencing technologies, detection of a wider range of diseases has become available.

No conflict of interests was declared by the author.

The role of extracellular vesicles in physiological and pathological conditions (literature review)

2024-04-28T23:42:39+03:00

The article presents a review of medical literature on the current views on the role of extracellular vesicle ribonucleic acid (RNA) in physiological and pathological conditions.

Purpose - to highlight the current scientific knowledge about the importance of extracellular vesicles in physiological and pathological conditions, new possibilities for diagnosis and treatment.

Extracellular vesicles, in particular exosomes, have experienced a revival of interest following studies indicating their importance in numerous events of intercellular interaction. The main attention is paid to the studies that investigated the pathophysiology of microvesicles and exosomes in normal and most common diseases, diagnostic features and possibilities of application in clinical practice. In the area of reproductive medicine, there is a growing interest in understanding the role of extracellular vesicles in the male and female reproductive system, as they may represent a new mechanism of communication between the reproductive tract and immature germ cells or between the mother and fetus. This could potentially have a significant impact on the understanding of pregnancy-related processes and the development of complications. Their usefulness as biomarkers of pathological conditions such as preeclampsia, spontaneous preterm labor, and polycystic ovary syndrome is being studied.

Conclusions. The relationship between exosomal microRNAs and various diseases has been summarised. However, the use of exosomes has limitations due to technical and economic reasons. The purity of the isolated exosomes needs to be improved, which requires better technologies and equipment. The role of exosomal microRNAs in living organisms is highlighted, their value and potential use in terms of the source and mechanism of action of exosomes are demonstrated. More exosomal therapeutic agents will be used in future clinical trials, which gives hope for the emergence of new methods of diagnosis and treatment of many diseases.

No conflict of interests was declared by the authors.

Children with gene defects are a risk group for the development of abnormalities of the cardiovascular system

2024-04-28T23:55:27+03:00

To date, the prevalence of congenital heart defects (CHD), the level of disability and mortality from them in children remains an unsolved problem in pediatrics, despite the improvement of preventive measures, diagnostics and treatment in pediatric cardiology. There are a number of genetic diseases that are manifested by congenital anomalies of the cardiovascular system.

Purpose - to analyze the abnormalities of the cardiovascular system in children with gene defects for the early diagnosis of genetic diseases in patients and the detection of congenital pathology of the heart and blood vessels in them, followed by their treatment tactics.

This article describes a number of genetic syndromes in children, in which congenital anomalies of the heart and blood vessels are the most common. The characteristics of each of the syndromes include its definition, clinical symptoms with an emphasis on the external signs of the patient, the study of abnormalities of the cardiovascular system in this genetic disease, the examination plan for the patient and genetic testing used for the accuracy of the diagnosis.

Conclusions. Based on the results of our analysis, we can conclude that there is a certain regularity between genetic diseases in children and the development of CHD in them, according to which certain CHD are formed with certain gene defects. Knowledge of the main clinical symptoms, especially external dysmorphism, in such patients helps in faster diagnosis and treatment of a genetic disease, in particular CHD.

No conflict of interests was declared by the authors.