According to world publications, mutations in the SERPINA1 gene may be a genetic risk factor for severe chronic obstructive pulmonary disease and, consequently, rapid progression of respiratory dysfunction. This disease leads to a decrease in the level of alpha-1-antitrypsin protein. It is inherited by autosomal recessive type, but there are registered cases of codominance. In the absence of treatment, diseases of the respiratory system become chronic and lead to disability in adulthood. Early diagnosis of AAT deficiency is important to prevent complications and reduce mortality among people with this pathology. Due to these factors, genetic testing of SERPINA1 gene mutations in children with chronic lung diseases is appropriate to detect and prevent severe complications, associated with AATD. The aim of this work is to improve the effectiveness of early diagnosis of AAT deficiency in children with bronchial asthma and recurrent obstructive bronchitis by identifying different genotypes and phenotypes of A1AT deficiency, studying their relationship with the clinical course of respiratory diseases in children.
Keywords SERPINA1 gene, Alpha1-antitrypsin, bronchial asthma, codominance, heterozygous, liver, lungs, genotype,
phenotype, recessive.
616.12-036.886:613.73]-053.5-07-084
Випадки смерті дітей під час уроків фізкультури трапляються щороку не тільки в Україні, але й у всьому світі; і завжди це події, які набувають широкого розголосу. За даними Центру контролю і профілактики захворювань (CDC) США, щороку в США від раптової зупинки серця помирає близько 2000 молодих, на перший погляд здорових людей віком до 25 років.Мета — на підставі огляду літератури проаналізувати причини раптової зупинки серця (РЗС) у дітей та підлітків під час фізичних наван-тажень; визначити основні способи профілактики РЗС, надавши лікарям сімейної медицини практичну та актуальну інформацію щодо стратегії скринінгу, оцінювання та управління ризиком розвитку РЗС у дітей.Лікарі первинної ланки, які спостерігають пацієнтів, починаючи від немовляти до підліткового віку, мають довготривалі стосунки з ди-тиною та родиною і відіграють основну роль у профілактиці раптової серцевої смерті в дітей, адже проводять медичний огляд та пробу Руф’є усіх дітей перед вступом до школи та визначають групу занять на урок фізкультури з метою попередження цих трагічних випадків.Автори заявляють про відсутність конфлікту інтересів.Ключові слова: раптова зупинка серця, гіпертрофічна кардіоміопатія, шлуночкова тахікардія, фібриляція шлуночків, проба Руф’є, електрокардіографія, ехокардіографія
Deaths of children during physical education classes occur every year not only in Ukraine but also around the world, and these are always events that receive wide publicity. According to the Centers for Disease Control and Prevention (CDC), every year in the United States, about 2,000 young, apparently healthy people under the age of 25 die from sudden cardiac arrest.Aim — to analyze the causes of sudden cardiac arrest (SCA) in children and adolescents during physical activities and to identify the main ways to prevention of SCA, providing family physicians with practical and relevant information on the strategy of screening, assessment and management of the risk of developing SCA in children during physical activities.Primary care physicians (PCPs), who see patients from infancy to adolescence and have a long-term relationship with the child and family play a key role in preventing sudden cardiac arrest in children. They conduct a medical examination and Rufier test for all children before they enter school and determine the group of activities for physical education classes to prevent these tragic events.The authors declare that they have no conflict of interest.Keywords: sudden cardiac arrest, hypertrophic cardiomyopathy, ventricular tachycardia, ventricular fibrillation, Rufier's test, ECG, echocardiography.
UDC 616.988:578.834-06:616.441-008.6`]-053.2
The problem of thyroid dysfunction related to S S-oV-2 infection remains unclear in children. Therefore, the study aimed to reveal the interrelationship between thyroid dysfunction and VID-19 severity as well as to determine optimal cut-off values for screening for thyroid disorders in children. A total number of 90 children aged from 1 month to 17 years were involved in the study. Patients with known thyroid disease were not recruited for the research. thyroid panel was assessed for all participants that included: free triiodothyronine (FT3), free thyroxine (FT4), thyroid-stimulating hormone (TSH) and anti-thyroid peroxidase (ATPO) antibodies. Statistical analysis was done using the computer software Statistica 13.0. Research has revealed euthyroid sick syndrome (ESS) in 14.10% of SARS-CoV-2 infected children more often among patients with severe COVID-19 and multisystem inflammatory syndrome (33.33%) compared to mild COVID-19 course (6.67%) and moderate disease severity (8.89%) (P < 0.05). Significant correlation relationships were revealed for next values – FT3 and erythrocyte sedimentation rate (S) (rs = -0.22; P < 0.05); FT3 and Creactive protein ( P) (rs = -0.33; P < 0.05); FT3 and procalcitonin (rs = -0.43; P < 0.05). The next cut-off values for ESS determination were revealed: ESR 18.5 mm/h (AUC 0.803); CRP 11.5 mg/l (AUC 0.763); ferritin 84.8 ng/ml (AUC 0.733). Results suggest that pediatricians should pay attention to the endocrine disruptions by VID-19 in children.