Svitlana Tsvirenko

Background: Previous studies indicate a close relationship between the severity of COVID-19 and oxidative stress. N-acetyltransferase 2 (NAT2) is an enzyme that metabolizes a wide range of xenobiotics and plays an important role in the regulation of reactive oxygen species, consequently contributing to the development of oxidative stress. Aim: To determine the impact of NAT2 gene variants on the risk of developing and the progression of severe COVID-19-associated pneumonia in patients from the Poltava region of Ukraine. Methods: The study included 117 patients who were diagnosed with severe COVID-19 pneumonia and received treatment in the intensive care unit. The NAT2 gene variants were identified through the PCR-RFLP method. Results: The presence of the AA genotype of the A803G variant in patients with severe COVID-19 pneumonia is associated with an almost 3-fold reduction in the risk of lethal outcomes. The presence of the TT genotype of the C481T variant was associated with the need for artificial lung ventilation. Patients in the study group with a heterozygous GA genotype of the G590A variant demonstrated a notable rise in the risk of developing systemic inflammatory response syndrome and acute respiratory distress syndrome, with a nearly 2.5-fold and 3-fold increase, respectively. The G857A variant was not associated with the risk of developing the above-- mentioned complications in the examined patients. Conclusion: The obtained results suggested that the NAT2 gene variants might influence the incidence, course, and adverse consequences of COVID-19.

Allergic diseases are one of the main problems today. Almost 15% of the child population suffers from allergic diseases. Respiratory allergies account for a significant share and currently the prevalence of asthma in the world — 5–10%. Purpose — to assess the anamnestic risk factors for the development asthma in children with recurrent wheezing. Materials and methods. Analysis of clinical data of 96 children aged 1 year 6 months to 6 years 11 months with recurrent episodes of bronchial obstruction, who were examined and treated in the municipal non$profit enterprise «City clinical children's hospital No. 16» Kharkiv City Council. Patients have the inclusion criteria in the study. Children were observed before the age of 6 years to verify the diagnosis of asthma and were divided into groups. Group I included 15 patients with asthma. Group II — 81 patients who had recurrent wheezing. Results. Among the anamnestic data were significant adverse factors in the formation of asthma. The nature and strength of the relationship between these factors have been established. The connection with the formation of asthma in children was evaluated. Conclusions. The established data can be used in the algorithm of examination of patients with wheezing. It`s able to identify the risk groups of children for the formation of asthma. Collection of anamnesis and identification of these risk factors can be used to predict the formation of asthma in children less than 6 years. 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 interest was declared by the authors. Key words: wheezing, recurrent wheezing, asthma, children, data of anamnesis, risk factors, preschool age.

Objectives: COVID-19 continues to range around the world and set morbidity and mortality antirecords. Determining the role of genetic factors in the development of COVID-19 may contribute to the understanding of the pathogenetic mechanisms that lead to the development of complications and fatalities in this disease. The aim of our study was to analyze the effect of TNF-α (rs1800629), IL-6 (rs1800795) and VDR (rs731236 and rs1544410) genes variants on the development risk and the course of COVID-19 in intensive care patients. Methods: The study group included 31 patients with diagnosis “viral COVID-19 pneumonia”. All patients underwent standard daily repeated clinical, instrumental and laboratory examinations. Determination of IL-6 , TNF-α , and VDR genes variants was performed using the PCR-RFLP method. Results: It was found a significant increase in the rate of the CC genotype and C allele (38.7 vs. 12.0% and 0.6 vs. 0.4%, respectively) of the IL-6 gene in all patients of the study in comparison with population frequencies. There was a significantly higher rate of heterozygous genotypes TC and GA of the VDR gene in group of died patients. The rs1800629 variant of the TNF-α gene is associated with the need for respiratory support and its longer duration in patients with COVID-19. Conclusions: The obtained results support a hypothesis about the influence of variants of IL-6 , TNF-α and VDR genes on severity of COVID-19. However, in order to draw definite conclusions, further multifaceted research in this area are need.

Purpose — to demonstrate the features of the course and treatment of Gilbert's syndrome in a newborn. Materials and methods. We present A clinical case of follow-up of a newborn with Gilbert's syndrome. The paper examines the features of the course and treatment of this disease. Results. Important is the fact that the difficulties in diagnosing Gilbert's syndrome in newborns are primarily due to current problems in neonatology, namely the diagnostics of pigmentary disorders that occur during bilirubin metabolism. The polymorphism of Gilbert's syndrome symptoms and the lack of a clear association with plasma bilirubin levels make it difficult to diagnose the disease, especially in newborns. The peculiarity of the course of Gilbert's syndrome in the given case is as follows: early onset of the disease (from the day of birth), the presence of high hyperbilirubinemia (total bilirubin — 189.2 μmol/l, direct bilirubin — 24.3 μmol/l, indirect bilirubin — 164.9 μmol/l), intermittent attacks of jaundice. The severity of the disease is also due to the transient condition of the newborn: hypoxic and ischemic lesions of the CNS, transient dysfunction of the adrenal cortex, open oval window, and the mother's failure to follow clear principles of treatment of Gilbert's syndrome in breastfed infants. Conclusions. The peculiarity of this disease is the fact that the mother is at risk of giving birth to a sick child due to a burdened hereditary history of the paternal line (Gilbert's syndrome). Therefore, it is necessary to provide medical and genetic counseling when planning the birth of a child to determine the degree of risk of birth with this disease. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: Gilbert's syndrome, hyperbilirubinemia, a newborn.

В статье представлен клинический случай неонатального острого лимфобластного лейкоза у ребенка 22 суток жизни с поражением центральной нервной системы и вовлечением в патологический процесс тестикул. Манифестация клинических признаков в неонатальном периоде была в виде синдрома желтухи с ранней анемией новорожденного, гидроцеле. Во время первичного визита к врачу и обследования по поводу неонатальной желтухи обнаружен лейкоцитоз, бластоз с наличием промежуточных форм нейтрофилов, анемия (Нb — 108 г/л). При исследовании костного мозга выявлена гипоцеллюлярность костного мозга, бласты — 79,6 %, при цитохимическом исследовании бластных клеток установлен FAB типа L1 с иммунофенотипом pro-B ALL. Проведенное молекулярно-генетическое исследование костного мозга выявило транслокацию AF4/MLL t (4; 11) (q21; q23). По данным исследования спинномозговой жидкости были выявлены бластные клетки 48 × 106/л, что указывало на вовлечение в патологический процесс центральной нервной системы. После установления диагноза «врожденный острый лимфобластный лейкоз, ФАБ вариант L1, тип pro-B ALL, с тестикулярным поражением, вовлечением ЦНС, положительный І острый период» начато лечение по протоколу для врожденных лейкемий INTERFANT-06. Опираясь на рекомендации протокола, учитывая возраст ребенка < 6 мес., дозировка полихимиопрепаратов была скорригирована и назначено 2/3 от общетерапевтической дозы с параллельным проведением сопроводительной терапии в полном объеме. Представленный пациент практически в течение всего периода лечения не демонстрировал улучшения гематологической картины, и летальный исход вследствие злокачественного процесса произошел в возрасте ребенка 48 суток. Описанный клинический случай подтверждает необходимость ранней адекватной диагностики, что позволяет избежать ряда диагностических и терапевтических ошибок, а также повысить вероятность успешного лечения данной патологии.

Symptoms and signs of early infection and sepsis in premature infants are varied; there are no clear criteria for the diagnosis of such conditions in this cohort. The aim of our study was to analyze and identify the risk factors for early infections in premature infants and to develop on their basis the clinical prognostic model with high diagnostic performance. A retrospective cohort study, which included 152 premature infants, was conducted; 121 of them had the signs of early infections, 31 - had no signs of infection. 52 candidates of prognostic variables were considered. According to the results of multiple stepwise logistic regression analysis, the predictive model has been developed. It includes gestational age, visual changes of the placenta, Apgar score at the 1st minute, the level of monocytes more than 6.5%, the history of abortions and premature rupture of membranes. The diagnostic characteristics of the developed model are high: sensitivity - 82.2%, specificity - 93.55%, positive predictive value - 97.98%, negative predictive value - 58%. Therefore, when interpreting the figures of biomarkers, the decision as to the prescription of antibiotics should be based on the presence of maternal risk factors and clinical symptoms of the infection in the newborn.