Improvements in clinical approaches and innovative technological solutions in the field of molecular allergy diagnostics have fundamentally changed the tactics and strategy for managing children with allergic diseases. In particular, molecular allergy diagnostics is used to make decisions in cases of suspected food allergy; to assess the risks of life-threatening reactions; to optimize the elimination diet; to identify cross-reactivity; to diagnose inhalant allergies and determine their clinical significance;to provide optimal recommendations for reducing the exposure to inhalation allergens; to rationally select pharmacotherapy and allergen-specific immunotherapy; to predict the course of allergic disease, including the development of the atopic march. In addition, molecular allergy diagnostics is the foundation for establishing a system for preventing allergic diseases. In this article, we have tried to outline the main achievements and prospects of molecular allergy diagnostics application in pediatric practice.

Uniparental disomy is a type of chromosomal variation leading to in which both homologous chromosomes or chromosomal regions are inherited from one parent. Such variations have been detected for all chromosomes. The frequency of uniparental disomies is estimated at 1 case per 2000 births. The causes of uniparental disomies include errors during meiosis, postzygotic errors, Robertsonian and reciprocal translocations. Clinical manifestations are associated with loss of heterozygosity for pathogenic genetic variants and defects in genomic imprinting.
Currently, the diagnosis of uniparental disomy is performed using methods such as microsatellite analysis, chromosomal microarray analysis, methyl-sensitive PCR, methyl-specific amplification of a probe dependent on multiplex ligation and next-generation sequencing (NGS). The methods used nowadays separately do not allow for a definitive diagnosis of uniparental disomy. A combination of NGS method that simultaneously assesses the DNA methylation status and regions of loss of heterozygosity, in particular those based on fragmentation of genomic DNA by methyl-dependent restriction enzymes, with classical approaches such as methyl-sensitive PCR and microsatellite testing will enable rapid and accurate diagnosis of uniparental disomies.

This review focuses on the analysis of biomarkers for the diagnosis and prognosis of infections in immunocompromised children, with particular emphasis on their role in early diagnosis and risk assessment. The study is based on scientific publications from the PubMed database, including analyses of immunological markers, genetic predispositions, and biomarker measurement methods. The key findings highlight the importance of biomarkers such as procalcitonin and presepsin for early diagnosis, IL-6 for predicting disease progression, and TREC and KREC for monitoring neonatal immune status. Promising areas of study include genetic markers and the evaluation of neutrophil extracellular traps to predict sepsis outcomes. The practical application of these biomarkers can improve the diagnosis and monitoring of infections in immunocompromised children, reducing mortality and complications while enhancing treatment efficacy. The study’s conclusions underscore the importance of integrating biomarkers into personalized approaches to diagnosing and predicting infectious diseases in children with immune system impairments.

Despite the research conducted in recent years, it remains difficult to assessing the intensity of stress and pain due to the limited ability of newborn children to express discomfort in the absence of verbal communication, and methods for assessing hormonal regulation, metabolism and homeostasis are invasive and unsuitable for continuous monitoring.
Objective. To assess the reaction of the sympathetic nervous system in newborns in the early neonatal period, depending on their state of health, by recording electrodermal activity (EDA).
Material and methods. During the work, electrodermal activity indicators were monitored in 160 newborns of gestational age 37–40 weeks, who were divided into two groups: Group 1 included 80 healthy newborns, while Group 2 comprised 80 newborns with perinatal pathology. To monitor the indicators of electrodermal activity, the NeonFSC system (manufactured by «VKO Physiomed ») was used, the software of which enables the assessment of the following skin conduction reactions: — spectral power of the skin conduction reaction «IP»; cumulative stress effect DASS; sympathetic dominance index SDI; reactivity index PVI on the distal parts of the limbs of newborns.
Results. Perinatal pathology in group 2 newborns was presented by: intrauterine hypoxia/asphyxia at birth (70%), respiratory insufficiency (57.6%), congenital pneumonia (45%), growth retardation and malnutrition (15%), congenital heart defects in the form of ventricular septal defects (12.5%), diabetic fetopathy (7.5%), cephalohematomas and hemolytic disease due to Rh factor incompatibility (5% each). It was found that in newborns of group 2, such pathological electrodermal activity patterns as cumulative stress effect (р=0,0016) and types 3 and 4 of scattergrams were statistically significantly more often than in children of group 1 (р<0,001). Thus, the reaction of the sympathetic department of the vegetative nervous system, obtained as a result of monitoring electrodermal activity indicators, in newborns in the early neonatal period depended on their state of health.
Conclusion. The association between pathological electrodermal activity patterns and the severity of neonatal conditions makes it possible to use them as criteria for neonatal distress, which, according to the results of the study, are an increase in the cumulative effect of stress above 75 centiles, as well as types 3 and 4 of the scattering scale.

Hypertrophic cardiomyopathy is the most common cause of sudden cardiac death in both adults and children. A crucial issue is identifying children with hypertrophic cardiomyopathy (HCM) who are at high risk of sudden cardiac death and require an implantable cardioverter-defibrillator for primary prevention of sudden cardiac death.
Objective. To evaluate the effectiveness of implantable cardioverter defibrillators (ICDs) as the primary prevention of sudden cardiac death in children with hypertrophic cardiomyopathy.
Material and methods. Data were collected from a single pediatric center (2009–2024), including 200 children and adolescents with hypertrophic cardiomyopathy, 77 patients underwent implantation of a cardioverter defibrillator for the primary prevention of sudden cardiac death.
Results. Appropriate shocks on ventricular tachycardia and ventricular fibrillation occurred in 8 out of 77 patients (10.4%) within 1.25 years (IQR 0.6–3). The median time from implantation to the first discharge was 2 years (IQR 1.2–2.3). The annual frequency of appropriate ICD shocks was 3.5% per year. A direct correlation of the responses on the number of risk factors for sudden cardiac death was obtained. In patients with two or more risk factors, the likelihood of motivated response was 12 times higher than in those with fewer risk factors (OR/OR 12.12; CI 95% 1.47–99.65). The values of 5-year risk of sudden cardiac death >16% (HCM Risk-Kids) and >11.9% (HCM Risk-SCD) had the best prognostic value (AUC 0.738; p<0.05 and AUC 0.935; p<0.001, respectively). No significant correlation was found between an estimated 5-year SCD risk of 6% (HCM Risk-Kids and HCM Risk-SCD) and the frequency of ICD activations. Inappropriate ICD activations were recorded in 6 patients (7.8%), while complications were observed in 3 (3.9%).
Conclusion. The high prognostic significance of the factorial approach to the stratification of the risk of SCD in children with HCM has been established. It is necessary to further improve the cut-off points for determining indications for implantation of cardioverter defibrillators in children based on 5-year models of sudden cardiac death in pediatric patients.

Summary. Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited channelopathy characterized by bidirectional and/or polymorphic ventricular tachycardia triggered by physical or emotional stress. CPVT is associated with a high mortality rate if left untreated. Although beta-blockers are the cornerstone of pharmacologic management for catecholaminergic polymorphic ventricular tachycardia, their efficacy as monotherapy is often limited. This limitation highlights the need to investigate combination antiarrhythmic therapies that may more effectively reduce the risk of arrhythmogenic events and sudden cardiac death.
Objective. To compare the efficacy and safety of beta-blocker monotherapy versus combination therapy (beta-blocker plus propafenone) in patients with catecholaminergic polymorphic ventricular tachycardia.
Materials and Methods. The study included 68 patients diagnosed with catecholaminergic polymorphic ventricular tachycardia during childhood. Efficacy criteria for the therapy included the absence of ventricular and supraventricular arrhythmias and the absence of arrhythmogenic events during treatment.
Results. Combined antiarrhythmic therapy with a beta-blocker and the class IC antiarrhythmic agent propafenone was significantly more effective in preventing stress-induced cardiac rhythm disturbances (p=0.00002) and arrhythmogenic events (p=0.02) compared to beta-blocker monotherapy.
Conclusions. These results indicate that combination therapy with a beta-blocker and propafenone is more effective over beta-blocker monotherapy in patients with catecholaminergic polymorphic ventricular tachycardia. Further research is warranted to confirm these findings and to assess the potential inclusion of propafenone in future international clinical guidelines for catecholaminergic polymorphic ventricular tachycardia management.

Currently, there is a growing incidence of diabetes mellitus and obesity.
Objective. To determine the prevalence of overweight and obesity in children with type 1 diabetes mellitus.
Materials and methods. The study included 313 patients (245 under 14 years old, 68 adolescents aged 15–17 years) with type 1 diabetes mellitus. At the first stage, a single-stage observational study was conducted to assess the prevalence of obesity and excess body weight in children with type 1 diabetes mellitus. The second stage was a retrospective study to evaluate body weight at the onset of 1 diabetes mellitus in patients with excess body weight and obesity after 5 years of the disease.
Results. 68 (21.7%) patients with type 1 diabetes mellitus were overweight, and 32 (10.2%) had obesity of varying degrees. There was no difference in the incidence of obesity and excess body weight in children of different age groups: the incidence of obesity was 9.8% and 11.8%, and excess body weight was 22.9% and 17.6%, respectively. After 5 years of type 1 diabetes mellitus disease in all age groups, the prevalence of obesity increases 2.6 times, increasing from 5.4% to 14.3% (p=0.077), excess body weight — from 10.8% to 28.6%, respectively (p=0.030). Retrospective analysis found, that the most patients, with excess body weight prevalence of type 1 diabetes mellitus (58.3%), at the 1st year of the disease was determined normal body weight, which was increased to excess (p<0.001). Additionally, in 50% of patients who developed obesity after five years of type 1 diabetes mellitus, overweight was already present in the first year of the disease (p=0.030) and later progressed to obesity.
Conclusion. Given the increasing prevalence of obesity in children with type 1 diabetes mellitus, as well as the increased risk of cardiometabolic and other complications in such patients, special attention should be paid to the development of effective strategies for the management and prevention of obesity in children with type 1 diabetes mellitus.

Respiratory mycoplasmosis and chlamydia in combination with COVID-19 in children during the pandemic is a significant concern in the structure of infectious morbidity.
Objective. The aim of the work is to identify the features of the course of COVID-19 in combination with atypical pathogens.
Materials and methods. The work uses an integrated approach to analyzing data from clinical, laboratory and instrumental examinations in children with a combination of COVID-19 with respiratory mycoplasmosis in comparison with monoinfection groups based on the use of mathematical modeling.
Results. Since the studied groups demonstrated homogeneity in most characteristics, a mathematical model for predicting the risk of combined infections was developed based on the use of a variety of clinical and laboratory data.
Conclusions. Due to the high prevalence of pneumonia in children with a combination of COVID-19 with respiratory mycoplasmosis, the similarity of the key symptoms in comparison with monoinfection, an algorithm for early differential diagnosis of COVID-19 combinations with atypical pathogens has been developed based on the use of mathematical modeling for early identification of these infections at the prehospital stage.

RASopathies represent one of the largest groups of genetic disorders. One of them is Noonan syndrome, an autosomal dominant disease, which in rare cases can also be inherited in an autosomal recessive manner caused by a disruptions of the RAS/MAPK signaling pathway. This pathology occurs in 1 in 1000–2500 live births and leads to a number of disorders: dysmorphic facial features, congenital heart defects, lymphatic malformations, hemostatic disorders, chest abnormalities, cryptorchidism, delayed neuropsychological and physical development. The development of Noonan syndrome is caused by mutations in the genes PTPN11 (in about 50% of patients), SOS1, RAF1, RIT1, KRAS, NRAS, BRAF, LZTR1, SOS2, etc. The phenotypic similarity of Noonan syndrome to other RASopathies, as well as chromosomal abnormalities, in particular with Turner syndrome, the presence of concomitant pathology of the neonatal period and skin formations leads to difficulties in differential diagnostic search and, as a result, in diagnosis. Awareness of neonatologists and pediatricians about the clinical picture of this syndrome, as well as possible concomitant pathologies, will contribute to its early diagnosis, proper management strategies and improvement of the patient’s quality of life. This article describes a rare clinical case of juvenile xanthogranuloma in a child with Noonan syndrome.

Roifman syndrome is a rare hereditary disease characterized by a defect in the humoral link of immunity, spondyloepiphyseal dysplasia, stunted growth and intellectual development, as well as retinal dystrophy. Roifman syndrome was first described in 1999, and in 2015 pathogenic mutations in the RNU4ATAC gene associated with Roifman syndrome, Taybi–Linder syndrome (TALS), or primary osteodysplastic dwarfism with type 1 microcephaly (MOPD1), and Lowry–Wood syndrome (LWS) were identified. Clinical manifestations of Roifman syndrome include microcephaly, a narrow nasal bridge, growth retardation and immunological disorders leading to frequent respiratory infections and a decrease in quality of life. The prognosis for children with this disease is more favorable compared to other RNU4ATAC-opathies, such as MOPD1. The article describes a clinical case demonstrating a long-term diagnostic path to diagnosis verification and the importance of early diagnosis of rare forms of immunodeficiency conditions in order to improve the quality of life of children. From an early age, the patient had characteristic clinical manifestations in the form of phenotypic features and multiple organ complaints. The child was observed for a long time by specialist doctors with various nosological forms. Despite treatment, no improvement was observed, and complaints increased. Sequencing of the complete exome in 2017 did not allow the diagnosis to be verified. However, during a more extensive genetic examination, sequencing of the complete genome in 5 years, in 2022, Roifman syndrome was confirmed. The appearance of previously undescribed mutations and the expansion of DNA diagnostic methods made it possible to verify the diagnosis and initiate substitution therapy in order to improve the quality of life.

Psoriatic arthritis is a chronic inflammatory disease of the peripheral joints, spinal joints and entheses, occurring in 10–25% of patients with psoriasis. Juvenile psoriatic arthritis is classified as a subtype of juvenile idiopathic arthritis. Treatment of juvenile psoriatic arthritis is challenging. One of the main difficulties is that the drugs used in adult patients have restrictions for use in pediatric practice, which limits the available therapeutic options. There are few studies assessing the effectiveness and safety of secakinumab therapy in pediatric practice.
Objective. To evaluate the effectiveness and safety of secukinumab (Cosentyx) therapy in children with juvenile psoriatic arthritis in real clinical practice.
Methods. The effectiveness of therapy was assessed using the “pediatric” criteria of the American College of Rheumatology (ACRpedi) after 6, 12 and 18 months from the date of administration of secuquinumab (Cosentyx) therapy in 8 patients with jPsA. The main criterion for treatment effectiveness was the achievement of at least 50% (ACR pedi 50) improvement. To assess the area and severity of skin manifestations of psoriasis, the PASI (Psoriasis Area Severity Index) index was used. To assess the area of skin affected by psoriatic rashes, the body surface area index (BSA) was used.
Results. By the 6th month of therapy with secukinumab (Cosentyx), a general assessment of the effectiveness of treatment was completed in all children (n-8): ACRpedi50 in 1 (12.5%), ACRpedi70 in 3 (37.5%); ACRpedi90/100 in 4 (50%). By the 12th month of therapy with secukinumab (Cosentyx), according to a comprehensive assessment of the effectiveness of therapy, all remaining children (n-5) responded to treatment: ACRpedi70/90/100 were 60/60/60%. Inactive disease status was achieved in 60% of cases. By the 18th month from the start of therapy, ACRpedi was assessed in 5 children: ACRpedi 70/90/100 were 60/60/60%, respectively. In 3 patients from the initial number of children, pharmacological clinical and laboratory remission of the disease was achieved by the 18th month of therapy.

Nephronophthisis type 1, juvenile (OMIM 256100) is a rare ciliopathy with an autosomal recessive type of inheritance, which is the most common genetic cause of terminal chronic renal failure in children and young adults. The development of this pathology is caused by mutations in the NPHP1 gene (homozygous or compound heterozygous), responsible for the structure and function of the nephrocystin-1 protein in the primary cilium. The average age of onset of end-stage kidney disease in the juvenile form of nephronophthisis is 13 years. Patients with nephronophthisis rarely pay attention to the first characteristic clinical manifestations of the disease, such as polyuria and polydipsia, hyposthenuria, anemia, which leads to late diagnosis of the disease at the stage of chronic renal failure. The article presents a clinical observation of a 14-year-old female patient with manifestation of nephronophthisis type 1 with polyuria and polydipsia, hyposthenuria. Our observation demonstrates the initial manifestations and progression of chronic kidney disease (chronic kidney disease stage 3B) in a 14-year-old proband with juvenile nephronophthisis type 1 due to a mutation in the NPHP1 gene.

Familial Mediterranean fever (periodic disease) is the most common disease from the group of hereditary periodic fevers, which is caused by a mutation in the MEFV gene and is inherited in an autosomal recessive manner. Familial Mediterranean fever is most common among representatives of certain ethnic groups — Armenians, Turks, Sephardic Jews — in these populations, the incidence of Familial Mediterranean fever reaches 1:500. The clinical picture is characterized by periodic attacks of fever combined with abdominalgia, relieved within 12–72 hours. Aseptic inflammation of the serous membranes causes peritonitis, synovitis, pleurisy. Surgery for periodic disease can lead to the development of adhesive disease, and as a consequence — intestinal obstruction. The article presents clinical cases of periodic disease in children who received and or not receive colchicine therapy, including those with colchicine resistance.