Coronary heart disease, which is caused by coronary atherosclerosis, is the largest contributor to cardiovascular mortality. Atherosclerosis originates in childhood. This article presents data on the prevalence and etiology of familial hypercholesterolemia, characterized by high levels of low-density lipoprotein cholesterol. This leads to the onset of atherosclerotic vascular disease in childhood and the development of myocardial infarction in the second or third decade of life. The disease is asymptomatic for a long time, especially in childhood, and therefore its detection rate is less than 1%. Diagnostic criteria and genetic aspects of the disease are outlined, and various screening options for hypercholesterolemia are discussed. A strategy for the primary prevention of cardiovascular disease is presented, and current drug therapy options are discussed. Indications for the use of statins, cholesterol absorption inhibitors, and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors are presented. It is demonstrated that early detection of familial hypercholesterolemia in children will facilitate the timely initiation of lipid-lowering therapy, which will halt the progression of atherosclerosis and prevent the development of coronary heart disease.

Cardiorenal syndrome is a disorder of the heart and kidneys, in which acute or chronic damage to one of these organs can cause acute or chronic damage to the other organ. Despite existing research, the problem of cardiorenal syndrome remains insufficently studied. Cardiorenal syndrome in children has unique pathogenetic mechanisms and clinical manifestations that require special attention. There is also a lack of standardized diagnostic approaches in children. The article presents various approaches to classification, the evolution of the concept of cardiorenal relationships, and the current understanding of the pathogenesis of cardiorenal syndrome.

Neurotoxicity of general anaesthesia drugs has been a subject of debate and research for two decades. Of particular concern is the possible neurotoxic effect of anaesthesia on the developing CNS in young children, as well as in children with psychoneurological disorders. The results of preclinical animal studies demonstrate the neurotoxicity of most known anaesthesia drugs, which is manifested both at the microscopic level and in the form of clinically significant impairments of cognitive and behavioural functions. However, the question of extrapolation of experimental data to humans remains open. Clinical studies on the neurotoxicity of general anaesthesia show contradictory results. The effect of xenon anaesthesia on the cognitive functions of the paediatric population in general, and especially children with neuropsychiatric pathology, remains poorly studied. According to the data acquired in experimental and clinical studies, the innovative anaesthetic xenon demonstrates neuroprotective effects, which suggests the absence of neurotoxicity and opens prospects for it's use in patients with a particularly vulnerable central nervous system.

Late prematurity (340/₇–366/₇ weeks) accounts for up to 75% of all cases of premature birth. Despite the fact that in clinical practice they are equated with full-term babies, they are at increased risk of respiratory, metabolic, infectious and neurological disorders. This necessitates a differentiated multidisciplinary approach to reduce adverse outcomes. The aim is to conduct a comparative analysis of the early neonatal period in children born at 340/₇-366/₇ weeks and full–term newborns.; to determine the relationship of pathological conditions in infants with risk factors identified in the mothers’ medical history. Materials and methods:

The study group: 140 children born at late prematurity (340/₇–366/₇ weeks of gestation). The control group: 140 children born at full term (370/₇–416/₇ weeks of gestation). The analyzed parameters include weight and growth indicators, outcomes of the early neonatal period, the need for respiratory support and intensive care, as well as maternal anamnestic data. The data was processed using StatTech software, version 3.1.10.

Results. Late premature newborns have a statistically significantly higher risk of developing pathological conditions in the early neonatal period compared with full-term peers (all comparisons p<0,001). Significant maternal risk factors were identified: body mass index > 23 kg/m2 and < 28 kg/m2 (increases the risk of late premature birth); maternal age ≥ 34 years (associated with the need for ventilation); age ≥ 32 years (risk of grade II cerebral ischemia); age 36 years (increased risk of intrauterine pneumonia).

Conclusions. Late premature newborns have less perfect compensatory capabilities compared to full-term infants. The leading pathological conditions — respiratory disorders, hypoglycemia, hyperbilirubinemia and neurological dysfunctions — lead to a longer hospital stay and the need for high-tech care. Body mass index and maternal age are significant predictors of the risk of complications in a late pre-term newborn.

Recent studies have confirmed that increased intestinal permeability syndrome plays a key role in the pathogenesis of allergic diseases, while peripheral tight junction proteins like ZO-1 may serve as potential biomarkers for assessing gut barrier integrity.

The aim of the study. To evaluate serum ZO-1 levels as a marker of epithelial barrier dysfunction in children with gut barrier impairment and food allergy.

Materials and methods. The study included 27 children with cow’s milk protein allergy (CMPA, Group I) aged 1 month to 3 years and 20 healthy controls (Group II). Serum ZO-1 and fecal calprotectin (FC) were measured by ELIZA. Statistical analysis used MannWhitney U test, Spearman’s correlation, and ROC analysis.

Results. Gastrointestinal symptom severity (GSS) was scored based n crying, regurgitation, stool, etc. Group I showed significantly higher GSS (Ме=13, Q1-Q3:7–18) versus controls (Ме=3, Q1-Q3:1–4,5). Serum ZO-1 levels were significantly lower in CMPA patients (Ме=0,007 ng/mL, Q1-Q3:0–0,031) compared to controls (Ме=0,033 ng/mL, Q1-Q3:0,027–0,135; p<0,05). FC levels also differed significantly: 286 μg/g (Group I) vs 87 μg/g (controls; p<0,001). Inverse correlations were found between ZO-1 and FC (r=-0,675; p<0,01) and between ZO-1 and GSS (r=-0,605; p<0.05).

Conclusion. Decreased ZO-1 levels and elevated fecal calprotectin confirm intestinal barrier damage in CMPA patients. ZO-1 serves as a reliable marker of barrier integrity, while its combination with FC enhances diagnostic value for predicting allergy progression and atopic march risk.

Autism spectrum disorders are characterized by marked heterogeneity. Standard clinical classification does not reflect the metabolic characteristics of patients, which limits the possibilities of laboratory stratification and a pathogenetically focused approach to treatment. One of the key biochemical pathways potentially involved in the pathogenesis of idiopathic forms of autism spectrum disorders is the methionine cycle and one-carbon metabolism.

The aim of the study. To evaluate methionine cycle parameters in children with non-syndromic and idiopathic forms of autism spectrum disorders and determine their clinical and diagnostic significance.

Materials and methods. A cross-sectional comparative study was conducted involving 65 children with multifactorial autism spectrum disorders (divided by the severity of autism spectrum disorders into 3 subgroups according to DSM-5: ASD Level 1, ASD Level 2, ASD Level 3) aged 44–72 months and 30 apparently healthy children in the control group. Homocysteine (Hcy), S-adenosylmethionine (AdoMet), and S-adenosylhomocysteine (AdoHcy) were determined by liquid chromatography with tandem mass spectrometry. The AdoMet/AdoHcy ratio was calculated as an integral indicator of methylation potential. Statistical analysis included nonparametric methods.

Results. All subgroups of patients showed statistically significant differences from the control group for all indicators of one-carbon metabolism (p<0.001). An increase in homocysteine levels, a decrease in AdoMet concentrations, an accumulation of AdoHcy, and a significant decrease in the AdoMet/AdoHcy ratio were observed. The most pronounced methylation potential disturbances were detected in patients with autism spectrum disorders (ASD Level 3) according to DSM-5. The AdoMet/AdoHcy ratio demonstrated the highest diagnostic specificity among clinical groups.

Conclusion. A systemic methionine cycle imbalance was detected in children with multifactorial autism spectrum disorders. A comprehensive assessment of Hcy, AdoMet, and AdoHcy, as well as calculation of the AdoMet/AdoHcy ratio, can be considered a promising tool for the laboratory diagnosis of autism spectrum disorders in patients and for the justification of pathogenetically targeted metabolic interventions in pediatric practice.

In recent years, the prevalence of autism spectrum disorders has increased among the population. This group of patients also has a high frequency of associated somatic diseases. By affecting a key pathogenetic mechanism—the “microbiota-gut-brain” axis—these conditions can influence the severity of the main symptoms of the disease, which requires the development of new methods for correcting somatic pathologies.

The aim of the study: to research the state of the intestinal microbiota and its metabolites in children with autism spectrum disorders to optimize approaches to correcting the main symptoms of the disease.

Materials and methods. The study involved 95 children with autism spectrum disorders (2–8 years old) and 26 children in the Control group (3–8 years old). Fecal samples were collected from patients with autism spectrum disorders before the intervention (ASD1) and 6 months after dietary correction and a course of probiotics (ASD2); from the Control group, a single sample was collected. Bacteriological analysis, determination of short-chain fatty acid and fecal calprotectin levels were performed. Gastrointestinal symptoms and neuropsychological development indicators were additionally assessed.

Results: Bacteriological examination of feces revealed significant differences in the ASD1 and ASD2 groups only in the level of Escherichia coli (lactose-positive) (p=0.021). Evaluation of intestinal metabolite levels revealed more significant differences, in particular, a significant increase in isocaproic acid (iC6) (p=0.008) in the ASD1 group compared to the Control, and its significant decrease against the background of the correction, which also directly correlated with the neuropsychic development indicators in the ASD1 and ASD2 groups (p=0.001).

Conclusion. Influencing the gut microbiota through dietary modification and probiotic use has demonstrated positive dynamics in intestinal metabolite levels, as well as parameters of neuropsychological development. A personalized dietary and microbiological approach provides the basis for developing comprehensive treatment options for children with autism spectrum disorders.

Meningitis is a devastating disease for which appropriate initial treatment improves outcome. Management strategies are based on the etiology, which is most commonly bacterial or viral. However, prompt detection of the etiologic agent is not possible in all cases; therefore, the investigation of additional early differential diagnostic markers, such as interleukins, remains relevant.

The aim of the study. To determine the differential diagnostic value of cerebrospinal fluid/serum ratios of interleukins 6, 8, 10 in purulent bacterial and viral meningitis in children.

Materials and Methods. This prospective study enrolled 63 children, divided into three groups: bacterial meningitis (n=20), viral meningitis (n=17), and a control group (n=26). Concentrations of albumin, interleukins 6, 8, 10 were evaluated in cerebrospinal fluid and serum samples obtained in parallel on the day of admission. Cerebrospinal fluid/serum ratios (QAlb and QIL) were calculated. Receiver operating characteristic (ROC) curve analysis was performed with estimation of the area under the curve (AUC) and determination of optimal cut-off values. A predictive model was developed with binary logistic regression.

Results. Interleukin 6 concentrations in cerebrospinal fluid (AUC = 0.982) and serum (AUC = 0.991), serum interleukin 10 (AUC = 0.965), and QIL10 (AUC = 0.953; sensitivity = 95.0%, specificity = 76.5%) demonstrated high diagnostic accuracy in differentiating bacterial from viral meningitis. Combining QAlb and QIL10 in the predictive model equation increased sensitivity (100%) and specificity (88.2%). A possible mechanism of intrathecal regulation of inflammation in the early stages of meningitis is proposed. In bacterial meningitis, only pro-inflammatory interleukins 6 and 8 are synthesized intrathecally, resulting in neutrophilic pleocytosis. In viral meningitis, intrathecal production of interleukins 6 and 8 and anti-inflammatory interleukin 10 inhibiting neutrophil recruitment into the cerebrospinal fluid leads to mixed or lymphocytic pleocytosis.

Conclusion. Evaluation of interleukin 6 concentration in cerebrospinal fluid and application of the predictive formula incorporating QAlb and QIL10 enables differentiation between bacterial and viral meningitis at the early stages of the disease.

Early microbial colonization influences the risk of congenital infections during the neonatal period.

The aim. To assess the spectrum and frequency of primary microbial colonization in conditionally healthy term and late preterm newborns at risk for early-onset neonatal sepsis (EONS) immediately after birth, and to determine the clinical significance of the identified pathogens.

Materials and Methods. A prospective single-center study (City Clinical Hospital No. 67, Moscow, September 2024 — March 2025) included 705 newborns (GA 35–42 weeks). Bacteriological samples were collected immediately after birth from two non-sterile sites — the nasopharynx and anus. A total of 1407 cultures were obtained. Microorganisms were identified using mass spectrometry.

Results. Bacterial growth was detected in 14.4 % (nasopharynx) and 16.8 % (anus) of healthy full-term and late preterm newborns. Fifteen genera were identified; Gram-positive cocci predominated (22.3 %), while Gram-negative bacteria were less common (6.5 %). The dominant species were Streptococcus agalactiae, Escherichia coli, Staphylococcus epidermidis, and Enterococcus faecalis. Vaginal delivery was associated with a higher frequency of S. epidermidis colonization (6.8% vs 1.6%; p=0.006).

Conclusion. Screening of cultures from non-sterile sites in apparently healthy newborns may serve as an accessible tool for early risk stratification of EONS.

Loeys-Dietz syndrome is a monogenic connective tissue disease with an autosomal dominant inheritance pattern. The TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, and SMAD3 genes, which are associated with six types of the syndrome, encode components of the transforming growth factor β (TGFβ) signaling pathway. The pathogenesis of the syndrome is associated with impaired signal transmission in this signaling pathway, which leads to impaired structure and function of the connective tissue elements in many organs and systems, including the cardiovascular, respiratory, musculoskeletal, central nervous, and visual systems.

The article presents an analysis of the medical histories of 7 children with types 1 and 2 of Loeys-Dietz syndrome, which was confirmed by molecular genetics (mutations in the TGFBR1 and TGFBR2 genes). All 7 probands had cardiovascular and musculoskeletal disorders, as well as allergic manifestations. It was noted that all patients had abnormalities in their urinary system. The clinical data of a child who inherited the disease from an ill mother are provided in detail.

A differential diagnosis was performed with other phenotypically similar monogenic connective tissue diseases. It is emphasized that medical supervision of patients with Loeys-Dietz syndrome should be carried out with the participation of a clinical geneticist, cardiac and orthopedic surgeons, a nephrologist, an allergist, and an ophthalmologist. The insufficient effectiveness of medical and cardiac surgical methods highlights the importance of developing a pathogenetic therapy for this severe disease.

Neu–Laxova syndrome (Neu–Laxova syndrome 1 — OMIM# 606879, Neu–Laxova syndrome 2 — OMIM# 610936) is a rare genetic disorder with an autosomal recessive type of inheritance, characterized by a high level of pre- and postnatal mortality. Most often, Neu–Laxova syndrome is manifested by a triad that includes fetal growth retardation, multiple congenital malformations and ichthyosiform changes in the skin. The disease belongs to a group of serine-deficiency disorders associated with mutations in the PHGDH, PSAT1 and PSPH genes. Multiorgan damage, recurrent infectious process with the development of pancytopenic syndrome are the most common causes of early infant death. Accumulated experience proves the effectiveness of serine replacement therapy, especially when started in the prenatal period. Description of the features of antenatal diagnostics, postnatal course of Neu–Laxova syndrome and expansion of awareness of specialists about the disease can contribute to early diagnosis and initiation of targeted treatment. The article presents a literature review and description of a fatal clinical case of a child with diagnosis of Neu–Laxova syndrome type 2.

Chronic hepatitis C is an urgent problem for Russian healthcare, including in pediatric practice. Currently, this infection can be successfully treated with the use of direct antiviral drugs. However, in some cases, due to the common ways of infection, especially with hemotransfusions, there is an infection caused by the hepatitis C virus and human pegivirus, the role of which is still not completely clear. A clinical observation from our own practice demonstrates the effectiveness of glecaprevir/pibrentasvir in an 11-year-old coinfected patient who received multiple blood transfusions against hepatitis C virus while maintaining pegivirus replication, which may have negatively affected the course of concomitant hematological disease.

The paper provides a comparative analysis of modern medical triage systems for children affected by emergency situations. Four key systems are considered: JumpSTART (Simple triage and rapid treatment), Pediatric Triage Tape (PTT), Care Flight Triage and SALT. It was concluded that the Care Flight Triage system is the most preferable for use by ordinary medical professionals in stressful emergency situations. Its key advantages are the simplicity of the algorithm, high evaluation speed (about 15 seconds per child) and sufficient accuracy for these conditions. Other systems, such as JumpSTART (which has age restrictions), PTT (which requires special equipment) and SALT (Sort, Assess, Life-Saving Interventions, Treatment/Transport) (which has a complex structure), are considered less practical for quick use by untrained specialists. A crucial condition for improving the effectiveness of medical and diagnostic care for children with mechanical injuries in emergencies is the training of medical personnel in the section «trauma surgery» with the principles of medical triage, which is currently practically absent in the programs of medical universities, organizations and departments of postgraduate medical training.

Breastfeeding exerts a positive long-term impact on child health, reducing the risk of both infectious and non-infectious diseases. Human milk contains a range of bioactive components that determine its overall immunological activity. Immunoglobulins are unique constituents of breast milk and exert multifaceted effects that promote the development of local mucosal protection as well as an adequate systemic immune response. Immunoglobulins play a key role in infant immune defense, substantially influencing susceptibility to infectious diseases. This effect is mediated by their ability to neutralize pathogens and prevent their penetration, thereby forming the newborn’s first line of defense. Human breast milk stem cells possess self-renewal capacity and multilineage differentiation potential. Numerous studies indicate that stem cells can enter the infant’s body during breastfeeding, playing a crucial role in the development of various organs, tissues, and the nervous system. The role of breast milk exosomes in immune cell activation and differentiation, the development of antigen tolerance, and the establishment of immunological mechanisms is being investigated. Of particular interest is the biologically active breast milk component lactopontin, which has immunoregulatory, antimicrobial, anti-inflammatory, and proliferative effects, thereby supporting neonatal immunogenesis. The protein-lipid complex HAMLET, with specific and broad bactericidal and oncolytic activity, is a promising biological agent for the development of novel approaches to combating infections and cancer. Further research should focus on detailed investigation of the mechanisms of action of each breast milk component. This will enable the development of optimal strategies for the prevention and treatment of various diseases.