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.

Nowadays, the creation of treatment protocols for young children with COVID-19 is especially relevant, as some issues of pathogenesis and genetic determinism of severe lung damage are still unclear. COVID-19-induced respiratory distress syndrome is a predictable severe complication that requires early diagnosis and proper treatment. Given the pathogenetic mechanism of lung damage in COVID-19, surfactant replacement therapy may be useful in the treatment of this cohort of patients. Clinical case. A clinical case of severe coronavirus infection caused by SARS-CoV-2 in a 6-month-old child is presented. The course of the disease was accompanied by severe damage to the lung parenchyma with the development of acute respiratory distress. The examination of the patient confirmed the genetic determinism of severe COVID-19, polymorphic risk alleles of the genes GSTM1, GSTP1, SFTP-B. The child's treatment included not only long-term mechanical ventilation, but also surfactant replacement therapy. The child recovered and was discharged without signs of respiratory failure. Conclusions. This clinical case demonstrates the association of genetic polymorphism with severe virus-induced lung damage. Because severe respiratory failure in COVID-19 is likely to be due to the development of acute respiratory distress syndrome, administration of exogenous surfactant should be considered as a possible treatment option. 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: COVID-19, children, virus-induced respiratory distress syndrome, gene polymorphism, surfactant administration.

The frequency of GSTT1 and GSTM1gene deletion polymorphism was determined in a case-control study of full-term Ukrainian newborns including patients with perinatal asphyxia. Multiplex polymerase...

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.

Among neonates, 2 per 1,000 experience hypoxia/ischemia at birth, resulting in hypoxic-ischemic encephalopathy (HIE) and subsequent neurodevelopmental disorders, which impose a lifelong burden on families and society. Infants with stage 3 HIE exhibit a high incidence of convulsive syndrome and severe neurodevelopmental delay. Even in the absence of profound impairments, affected children may present with motor, cognitive, or behavioral abnormalities. The aim of our study was to analyze and identify maternal and neonatal risk factors associated with psychomotor developmental delay. Materials and methods of the study. The study enrolled 45 infants born to mothers with metabolic syndrome who were diagnosed with moderate or severe HIE in the early neonatal period; among them, 30 were preterm and 15 were full-term. Follow-up of infants continued until 9 months of age; сontinued observation was possible in 27 (17 preterm, 10 full-term) of the 45 infants diagnosed with moderate or severe HIE. Statistical analysis was performed using standard descriptive methods and simple and multiple logistic regression, including Poisson regression. The predictive value of maternal history, metabolic parameters, and other variables was evaluated using receiver operating characteristic (ROC) curve analysis with calculation of the area under the curve (AUC) in STATA 14.0. According to the decision of the Bioethics Commission of Poltava State Medical University No. 217 dated 12.06.2023, the study adhered to ethical standards for the humane treatment of patients, as defined by the Tokyo Declaration of the World Medical Association, the Helsinki Declaration, the Universal Declaration of Human Rights, the Council of Europe Convention on Human Rights and Biomedicine, current Ukrainian legislation, orders of the Ministry of Health, and the Code of Ethics for Physicians of Ukraine. Informed consent was obtained from all parents. The study was conducted as part of the scientific research project of the Department of Pediatrics No. 1 with Neonatology, Poltava State Medical University, No. 0120U102856: “Development of clinical and laboratory criteria and methods for predicting and preventing metabolic disorders in young children.” Research results. Most infants included in the study were diagnosed with moderate asphyxia at birth. The Apgar scores at 1 and 5 minutes were 5.83 ± 0.23 and 6.7 ± 0.14 points, respectively, in preterm infants, and 5.8 ± 0.52 and 7.2 ± 0.34 points in full-term infants. Mechanical ventilation was required immediately after birth in 16.7% of preterm infants with HIE and 46.7% of full-term infants; the duration of mechanical ventilation was 4.26 ± 0.7 days in preterm infants and 5.47 ± 1.26 days in full-term infants. The most common neurological conditions at 9 months of age were hypoxic-ischemic CNS injury and psychomotor delay. The frequency of hypoxic-ischemic CNS injury was 88.2% in preterm infants and 60% among full-term infants. The incidence of psychomotor delay was 20.0% in preterm infants and 17.6% in full-term infants. Multivariate logistic regression analysis, adjusted for gestational age at birth, was used to develop predictive models for psychomotor delay. The Apgar score and duration of mechanical ventilation were identified as the strongest prognostic factors. . The predictive model including the duration of mechanical ventilation demonstrated a reliable predictive coefficient (β = 0.31; 95% CI, 0.11–0.50) with an area under the ROC curve of 0.9180. Conclusion. Approximately 20% of infants with HIE, both preterm and full-term, exhibited delayed neurodevelopment at 9 months of age. Multivariate logistic analysis identified low Apgar scores and prolonged mechanical ventilation as the most significant prognostic factors, with the predictive model incorporating ventilation duration demonstrating the highest predictive accuracy. These findings highlight the need to optimize medical monitoring and follow-up of infants with HIE born to mothers with metabolic syndrome.