Vol 13, No 5 (2022)

BACKGROUND: The mortality rate of children operated on in the early neonatal period remains high, despite the combined efforts of surgeons, anesthesiologists, clinical pharmacologists, and many other specialists.

AIM: to determine the risk of death of children in the period of birth, after surgical interventions carried out in the period of the neonatal period.

MATERIALS AND METHODS: A retrospective study was conducted between two groups of children treated at the Perinatal Center of the Pediatric University. The main group included 77 newborns operated on in the early neonatal period and died in the first 28 days of life. The control group included 287 children operated on in the perinatal period and survived 28 days.

RESULTS: In the main group, the percentage of defects detected prenatally was statistically significantly lower; statistically significantly more often multiple congenital malformations and congenital malformations of the cardiovascular system were diagnosed. Risk factors for the death of newborns after surgery performed in the perinatal period have been established: features of the somatic status of mothers (chronic nicotine intoxication, hypertension and arterial hypertension, chronic serum hepatitis B and C, pathology of the urinary system and thyroid gland, cervical ectopia), obstetric gynecological history (chronic inflammation of the organs of the lower floor of the genital tract, two or more abortions in multiparous women, placental insufficiency in history during a previous pregnancy, previous delivery by caesarean section), course of pregnancy (threatening abortion, acute respiratory viral infections, exacerbations of chronic infectious diseases, early toxicosis, carriage of Cytomegalovirus and Herpes simplex types 1 and 2, asymptomatic bacteriuria, gestational anemia, circulatory failure, fetal malnutrition, abnormalities in the amount of amniotic fluid diagnosed by ultrasound study in the 3^rd trimester of pregnancy), childbirth (breech presentation of the fetus and meconium staining of amniotic fluid), afterbirth conditions (chlamydial and ascending infection).

CONCLUSIONS: In pregnant women with prenatally diagnosed congenital malformations of the fetus, it is necessary to conduct bacteriological studies, emergency histological examination of the placenta to identify possible microbial damage, as well as timely examination and treatment of newborns and upcoming / undergone surgery.

BACKGROUND: Changes in the respiratory system in children with connective tissue dysplasia (CTD) have not been studied enough.

AIM: To study the features of CTD in patients of the pediatric pulmonology department with broncho-obstructive syndrome and chronic inflammation of the bronchi, to assess complaints and the nature of the disease.

MATERIALS AND METHODS: Patients admitted to the department were evaluated according to the table of diagnostic signs of CTD. 380 children were examined, aged 2 to 17 years 11 months.

RESULTS: Out of 380 children, the following were identified: with bronchial asthma — 309, with obliterating bronchiolitis — 18, with bronchiectasis — 11, with recurrent bronchitis — 42. Three groups were distinguished: 1^st — patients with CTD (172; 45%), 2^nd — with increased dysplastic stigmatization (111; 29%), 3^rd — children without signs of CTD (97; 26%). Most patients admitted to the pulmonology department have signs of CTD or dysplastic stigmatization (74%). Children with CTD often complain of feeling unwell, asthenia, joint pain, they are more likely to have orthopedic pathology. Patients of the 1st group often complain of articular syndrome — 19.2%, group 2 — 13.5%, children without CTD — 4.1 % (p < 0.001). Complaints about feeling short of breath were presented by 32.6% of patients with CTD, 21.6% with dysplastic stigmatization, and 7.2% in the comparison group (p < 0.001). Children with CTD and dysplastic stigmatization more often had chest deformities.

CONCLUSIONS: Patients with CTD are characterized by asthenic physique, changes in the axial skeleton — chest deformities of II and III degrees, scoliotic deformity of the spine of II and III degrees, which may contribute to the development of the pathology of the respiratory system. CTD is a comorbid condition that significantly affects all organs and systems. Timely diagnosis and an integrated approach to these patients are required. Diseases proceed with severe clinical symptoms, require more active examination and aggressive treatment.

BACKGROUND: Emotional stress is a significant risk factor for the development of cardiovascular diseases. Prenosological diagnostics of these conditions becomes important. The peculiarities of adaptive reactions are largely determined by individual psychological characteristics of an individual, including gender identity.

AIM: Determination of correlation of functional parameters of the cardiovascular system for objectification of psychological criteria for classification of gender identity.

MATERIALS AND METHODS: Hemodynamics and heart rate variability were studied in people with different gender identities. A total of 200 volunteers of both sexes were examined in a state of mental and physical rest. 14 parameters of cardiovascular activity were selected to construct discriminant functions: stroke volume of blood flow, cardiac output, cardiac index, stroke index, heart rate, standard deviation of R–R intervals, square root of the mean squared difference of successive R–R, percentage of R–R intervals with a sinus rhythm of the heart, which differ by more than 50 ms, index of vegetative equilibrium, vegetative rhythm index, indicator of the adequacy of regulatory processes, stress index of regulatory systems, indicator of the activity of regulatory systems. The obtained indicators and initial coefficients reflecting the contribution of each parameter to the discrimination of groups were used to calculate discriminant functions.

RESULTS: It was found that the graphs reflecting the results of discriminant analysis showed a high degree of accuracy in classifying men (97.6%) and women (96.5%) by gender identity based on objective characteristics of cardiovascular activity. The objectivity of psychological testing with a high probability of predicting the type of gender identity based on the analysis of rheography and rhythmocardiography data is shown.

CONCLUSIONS: The use of objective characteristics of cardiovascular activity obtained during rheography and rhythmocardiography made it possible to predict the type of a person’s gender identity with high probability.

BACKGROUND: Transient hyperammonemia in newborns (THAN) is a dangerous condition of the neonatal period that does not have a specific clinical picture, which often makes timely diagnosis difficult. Insufficient coverage of the problem of THAN in the literature, as well as the need to assess the neuropsychiatric development (NPD) of patients in the follow-up, served as the basis for this study.

AIM: To evaluate clinical and laboratory manifestations of THAN and its influence on the neuropsychological development during the first year of life.

MATERIALS AND METHODS: During the study, 22 preterm newborn patients were divided into 2 groups depending on the presence or absence of THAN: study group (n = 11) and comparison group (n = 11). All patients were assessed for risk factors, features of clinical manifestation of THAN, and neurological outcomes using the CAT/CLAMS scale at 3, 6, 9, and 12 months of age.

RESULTS: Analysis of the obtained data showed that the depression syndrome was the leading one in the clinical picture of THAN (81.8%). Laboratory changes are characterized by the respiratory failure (p = 0.039), anemia (p = 0.023), hypoproteinemia (p = 0.049), hypoalbuminemia (p = 0.048), lower blood sodium levels (p = 0.019). In the constructed prognostic model for determining the probability of having THAN, the critical cutoff p level was 20% (p = 0.012). Assessment of the neuropsychiatric development showed that 41.6% of children who had THAN maintained a moderate neuropsychiatric development delay in the first year of life with predominant impairment of motor skill formation.

CONCLUSIONS: Allocation of a risk group for THAN formation, timely prescription of a low-protein diet, correction of syndromic therapy, and monitoring of patients in the first year of life will help to avoid severe neurological disorders and reduce the need for rehabilitative measures.

A review of recent publications devoted to the study of risk factors for the onset of the disease, mechanisms, diagnosis and treatment of asthma from the point of view of molecular allergology is presented. New concepts and problems in the implementation of the exposome paradigm and its practical application are considered, including genetic and epigenetic factors, environmental impact. The most relevant experimental studies are noted that contribute to further understanding of molecular and immune mechanisms with potential new targets for the development of therapeutic agents. Reliable diagnosis of asthma, endotyping of the disease and monitoring of its severity are of great importance in the treatment of asthma. The heterogeneity of asthma is due to individual genetic and epigenetic variability, exposure to individual environmental factors (depending on regional characteristics, changing climatic conditions and population distribution), which explains the occurrence of asthma is not associated only with allergies. The modern assessment and treatment of comorbid/multimorbid asthma is described, including interaction with asthma phenotypes, which is important for the formation of a new therapeutic personalized approach to precision medicine and testing of prognostic biomarkers. The results of clinical trials, multicenter international studies on the use of new approaches in the diagnosis of asthma (candidate biomarkers) based on molecular allergology and treatment in adults and children using biological preparations are given.

The research of the blood-brain barrier began at the turn of the 18^th–19^th centuries. To date due to the large number of studies conducted, it is obvious that this system has an impossibly complex structure at the organ, tissue and molecular genetic levels. Scientific interest in the changes in the blood-brain barrier that occur during pathological neoplastic processes is increasing. As it turned out, the restructuring of this system is an important and integral stage in the pathogenesis of glioblastoma, a tumor of the central nervous system with the most unfavorable prognosis. Heterogeneous structure with the formation of areas of altered cellular composition, uneven and uncontrolled permeability, provided by a large number of transport vesicles and the destruction of tight contacts between endotheliocytes, active outflow of molecules from the parenchyma due to the continuous synthesis of new portions of ABC-carrier proteins, the creation of an immature vascular network under the influence of high expression of VEGF by tumor cells — the main characteristics of the hematopoietic barrier, formed in glioblastoma and supporting its survival. The further research of the features of the structure and mechanisms of functioning of the blood-brain barrier in glioblastoma is a new and promising task in modern neuro–oncology, the solution of which will not only expand the understanding of the biology of the most common and malignant brain tumor but will also improve the effectiveness of treatment of patients and improve the prognosis.

Rare severe insulin resistance syndromes such as Donohue syndrome, Rabson–Mendenhall syndrome, and type A insulin resistance are caused by mutations in the insulin receptor (INSR) gene. Donohue and Rabson–Mendenhall syndromes are caused by biallelic mutations in the α- and / or β-subunits of INSR, are characterized by a severe course with severe clinical symptoms and an unfavorable prognosis. The difficulty of managing and treating these patients is associated with a low incidence, lack of practice in managing such patients, as well as a lack of experience in surgical interventions in these patients.

All insulin resistance syndromes are characterized by a significant increase in the level of insulin in the blood plasma in the absence of obesity, progressive diabetes mellitus and an excess of androgens. Polycystic ovary syndrome or stromal hyperthecosis develops in adult patients with syndromic forms of insulin resistance.

We present a rare clinical case of a complicated course of Donohue syndrome, diagnosed in a 2-month-old patient. A feature of this clinical case was the giant growing multifollicular ovaries, which became an absolute indication for organ resection surgery.

The experience of treatment and observation of this patient reflects the importance of early verification of the diagnosis, timely appointment of adequate therapy, allows you to objectively assess the effectiveness of the treatment, helps in choosing medical tactics and predicting the course and outcome of the disease.

Xeroderma pigmentosum (XP) is heterogeneous group of diseases associated with defects in DNA repair, inherited in an autosomal recessive manner. Exposure of DNA to UV radiation produces photoproducts based on multiple nucleic acids, which serve as a substrate for DNA excision repair (NER). Mutations in the NER pathway genes result in impaired DNA repair and it associated with variety of clinical syndromes, which include xeroderma pigmentosa, Cockayne’s syndrome, and trichothiodystrophy. Some forms of the disease are accompanied by damage to the central nervous system. In recent years, precise molecular anomalies responsible for complementation patterns have been identified. All the patients with this disease have photosensitivity, an increased risk of skin cancer and melanoma, but there are number of differences between them. Considering the rare frequency of occurring this disease throughout the world, this article presents our own clinical observation of an 8-year-old patient with xeroderma pigmentosa. The first change on the girl’s skin appeared at the age of 2 months after insolation, in the form of hyperemia of the skin and blisters, later on multiple pigmented rashes of varying intensity appeared. Upon admission to the clinic, the girl had small dark brown spots and depigmented scars on her face and open areas of the body. Sequencing revealed the NGS variant in the hemizygous state in the XPA gene. Early diagnosis and preventive measures can dramatically improve and prolong the lives of patients. Considering the genetic heterogeneity, molecular diagnosis is an important step in the diagnosis and prognosis of the disease.

The demographic situation against the background of the reproductive attitudes of young people urgently requires research into the dynamics of parental attitudes, especially among women. Identification of potential resource areas and risk zones will make it possible to determine the main directions of psychological work with young people at the pre-parental and parental stages, strengthening the value of families and children among young people. The purpose of the study is to study the dynamics of parental attitudes before and after the birth of the first child. Sample: stage 1 (n = 50) — married pregnant young women (first pregnancy in the third trimester, no history of complications); Stage 2 (n = 39): young mothers with a baby from 3 to 5 months. Data collection was carried out in the course of a longitudinal study using psychological testing — methods: PARI E.S. Schaefer and R.K. Bella (adapted by T.V. Neshcheret); “Ideas about the ideal parent” R.G. Ovcharova; “Relationship Color Test” by A. Etkind. The results showed that women at the stage of early motherhood showed changes in all components of parental attitudes — cognitive, emotional, behavioral. The greatest dynamics occur in the emotional sphere, which is characterized by ambivalence of experiences, and in the mother’s self-awareness. The systems of attitudes towards the child and the maternal role (attitude towards oneself as mother and motherhood) are gradually differentiated. There is a restructuring of marital interaction and relations with the parental family: rapprochement with one’s own mother while distancing from a marriage partner. Thus, at the stage of early parenthood, a woman needs to form the skills of emotional and volitional self-regulation and increase the level of communicative competence, which are of central importance for high-quality relationships with a child and a spouse.