The article presents epidemiological indicators of type 1 diabetes mellitus in children, data on genetic and environmental risk factors for the development of type 1 diabetes mellitus, classification of type 1 diabetes mellitus stages that reflects the continuum of disease development from the appearance of autoantibodies to clinical symptoms. The article focuses on the preclinical stages of type 1 diabetes mellitus and the importance of early diagnosis for potential prevention and slowing down the progression of the disease. The article emphasizes the need for a comprehensive interdisciplinary approach to screening, early diagnosis of type 1 diabetes mellitus, and patient management programs, including in primary healthcare settings.

Obstructive uropathies are a group of diseases characterized by an impairment of the normal outflow of urine through the urinary tract, which can cause serious pathologies in newborns and infants. The use of minimally invasive and widely available diagnostic methods, such as ultrasound, is essential for establishing a correct diagnosis and choosing the optimal management strategy for pregnancy. The aim of this review is to conduct a comprehensive analysis of the possibilities of prenatal diagnosis, prognostic criteria, and modern methods of intrauterine treatment of obstructive uropathies to improve perinatal outcomes. A systematic review of fetal ultrasound and magnetic resonance imaging data was conducted, an assessment of the effectiveness of classification systems (SFU, UTD), and an analysis of the results of intrauterine interventions (vesico-amniotic shunting, fetal cystoscopy, nephro-amniotic shunting). 
Antenatal hydronephrosis occurs with a frequency of 1:750–1:1500, with 50–70% of cases being transient. Key prognostic criteria include: pelvic diameter ≥15 mm, bilateral involvement, oligohydramnios, hyperechogenicity of the parenchyma, and the presence of cystic changes. Modern methods of prenatal diagnosis allow for the timely detection of critical forms of obstructive uropathies. Prenatal ultrasound demonstrates a sensitivity of 78–91%; however, in complex cases, it needs to be supplemented with magnetic resonance imaging (sensitivity up to 92%). Intrauterine interventions (shunting, cystoscopy) increase perinatal survival by 20–30%, but their impact on long-term renal function remains a subject of debate. A multidisciplinary approach, including dynamic monitoring, specialist consultations, and antenatal interventions, can significantly improve perinatal outcomes. However, further research aimed at evaluating the long-term results of intrauterine treatment and developing new minimally invasive technologies is necessary to optimize management strategies.

For many years, the Mediterranean diet has been considered an exemplary regime for maintaining health and preventing chronic diseases. The results of modern research show that following the Mediterranean diet is associated with improved clinical symptoms, quality of life, and lower mortality rates in patients with inflammatory bowel diseases. The aim of the systematic review was to present data from recent studies on the role of components of the Mediterranean diet in relation to their effect on the course of inflammatory bowel diseases. The Mediterranean diet is widely known for its health benefits, but these effects may not be suitable for all patients with inflammatory bowel diseases due to the high variability of the disease course. Studying the complex interrelationships between lifestyle, nutrients, and pathogenetic aspects of inflammatory bowel diseases will allow us to develop a personalized treatment strategy for the disease in the future.

This review analyzes scientific publications and presents current views on the use of bacteriophages for the treatment of infections localized in bone tissue, in particular, osteomyelitis (hereinafter referred to as OMT). The stages of the development of the infectious process, the features of bacterial invasion characteristic of bone tissue, and the mechanisms of protection of bacterial cells, which are the most common causative agents of OHT, are briefly considered. Protective mechanisms such as biofilm formation and the formation of new phenotypes inside microbial colonies significantly reduce the effectiveness of the immune system and antibacterial therapy. Long-term survival of pathogens leads to significant damage to surrounding tissues and loss of bone mass.
Bacteriophages are a unique therapeutic reserve, they have a different mechanism of resistance development from antibacterial drugs, are highly specific, capable of eradicating biofilms and infecting pathogens with an altered phenotype. In our review, we came to the conclusion that, despite the proven effectiveness of the use of bacteriophages in individual studies, the technique is at the stage of study and cannot be scaled up to the industry standard, further research is required.

Early anemia of premature infants is one of the most common pathological conditions found in premature newborns. Currently, there are still relevant studies aimed at identifying new methods of conservative correction of anemia in premature newborns in order to prevent the progression of this pathological process and reduce the frequency of invasive methods of correction of severe anemia syndrome.
The aim of the study was to evaluate the comparative effectiveness of iron, vitamin E and folic acid as drugs of choice for the prevention and treatment of early anemia in premature infants.
Materials and methods. The study included 85 premature infants at risk of developing early anemia who were treated in the Department of Pathology of newborns and premature infants. As part of the standard protocol for the treatment and care of this contingent of children, medications (vitamin E, folic acid, iron preparations) were prescribed in appropriate preventive dosages. Within the prescribed time limits — 3 months, 6 months, 9 months and 12 months — the children included in the study were assessed for hemoglobin, erythrocytes and ferritin levels.
The results of the study. It was found that in the long term, the use of iron preparations at a dose of 2 mg/kg/day to prevent the development of early anemia in premature newborns was most effective (ferritin values by the end of the 7th week of life in this group of children had the highest values, p<0.05). With regard to the use of vitamin E and folic acid, the opposite dynamics were observed — in newborns who did not receive these medications on a routine basis, the indicators of ferritin, erythrocytes, hemoglobin and hematocrit prevailed or remained in equal values with similar indicators in children who received these medications on a routine basis (p<0.05).
Conclusion. The most effective doses of drugs that are routinely used as drugs of choice for the prevention of early anemia in newborns have been determined.

Sarcopenia, characterized as a reduction of skeletal muscle mass and functional capacity, remains a relevant but insufficiently studied issue in pediatric patients with inflammatory bowel disease. Loss of muscle mass may negatively affect the course of inflammatory bowel disease, increase the frequency of complications, and reduce treatment effectiveness. Recent studies have highlighted a possible association between sarcopenia and hepatobiliary manifestations in patients with inflammatory bowel disease. However, due to the limited number of studies and the absence of diagnostic guidelines, the prevalence of sarcopenia in children with inflammatory bowel disease and concomitant hepatobiliary manifestations remains unclear.
Objective. To assess the prevalence of sarcopenia in children with inflammatory bowel disease and to determine associations between reduced muscle mass and laboratory markers of liver injury.
Materials and Methods. Thirty-six children with inflammatory bowel disease were examined, including 18 with ulcerative colitis and 18 with Crohn’s disease. Laboratory markers were analyzed. Body composition was assessed using bioelectrical impedance analysis, and total psoas muscle area (tPMA) was measured via computed tomography or magnetic resonance imaging.
Results: Sarcopenia based on tPMA (z-score < –2) was found in 61% of patients. A decrease of skeletal muscle mass measured by bioimpedance analysis was observed in 19.4% of children, more frequently in those with hepatobiliary manifestations. A strong correlation between tPMA and body composition parameters was found.
Conclusion: These findings emphasize the importance of comprehensive nutritional assessment in children with inflammatory bowel disease, especially in the presence of hepatobiliary manifestations. Further prospective studies on sarcopenia in these patients are needed.

According to the literature, patients with hypochromic anemia are considered a "risk group" for an unfavorable course of COVID-19. It has been established that hypochromic iron deficiency anemia has a negative impact on virtually all aspects of the immune system, which play a key role in protecting the body from the SARS-CoV-2 virus. The development of COVID-19 leads to changes in iron homeostasis—the so-called inflammatory anemia—which negatively impacts the course of this infection.
Objective: to determine the features of the clinical course, laboratory and instrumental examination data, and to analyze the effectiveness of COVID-19 treatment in children with hypochromic anemia.
Materials and methods: in 2022–2024, 60 children with COVID-19 suffering from hypochromic anemia (observation group) and 60 children with this infection without anemia (comparison group) were examined in accordance with regulatory documents.
Results: The severity of the condition in observation group was determined by the degree of damage to the respiratory tract, fever and intoxication, as well as diarrhea. From laboratory data, patients with COVID-19 and hypochromic anemia are characterized by a decrease in the level of red blood cells and hemoglobin, and a tendency to hypercoagulation. The severity of the inflammatory process in them was more reflected by CRP than ferritin. In order to achieve a favorable outcome, patients in this group needed longer treatment for all types of therapy they receive in children without anemia.
Conclusion: COVID-19 in children with hypochromic anemia is more severe than in patients suffering from this infection without anemia.

Oculocerebrorenal syndrome (Lowe syndrome) is a rare disease with an X-linked type of inheritance. Lowe syndrome occurs as a result of mutations in the OCRL gene (Xq25). The disease is characterized by eye damage, neurological disorders and renal dysfunction leading to renal failure. A clinical observation of a newborn child K. with the onset of the disease and genetic verification of the diagnosis in the neonatal period is presented. The leading clinical features in the clinical picture were: muscle hypotonia syndrome, congenital ventriculomegaly, congenital cataract of both eyes, proteinuria. The diagnosis is suspected: «E72.03 Lowe oculocerebrorenal syndrome». The diagnosis was confirmed by whole exome sequencing: a variant of the nucleotide sequence in exon 16 of the OCRL gene (chrX-129575174-TC-) was detected in the hemizygous state, leading to a nonsense substitution (NM_000276:c.1638_1639del:p. Phe547Ter). The identified variant was verified by direct Sanger sequencing. A rare hereditary disease was diagnosed in the neonatal period, which made it possible to provide a personalized approach to providing medical care to this patient due to his high comorbidity, and to plan a medical genetic examination of the family.

We describe a clinical case of leukencephalopathy, developmental delay, and episodic neurologic regression (LEUDEN, OMIM 618877) associated with variants in the EIF2AK2 gene, with an emphasis on clinico-pathogenetic links and potential therapeutic targets. A 2-year-old boy presented with psychomotor delay, spastic tetraparesis, and fever-induced episodes of regression; brain MRI showed hypomyelination and white-matter atrophy. Whole-exome sequencing identified a de novo pathogenic EIF2AK2 variant, c.325G>T (p.Ala109Ser, NM_001135651.3). The synthesis of clinical, neuroimaging, and genetic data is consistent with chronic hyperactivation of the integrated stress response (ISR) via the PKR–eIF2α pathway, leading to sustained eIF2α phosphorylation, impaired synthesis of myelin proteins, activation of apoptosis, and synaptic dysfunction; external stressors (infections) act as triggers of transient deterioration manifesting as regression of skills. The phenotype may mimic cerebral palsy with episodes of regression, underscoring the need for early molecular genetic confirmation in pediatric hypomyelination. The pathogenetic involvement of the ISR highlights the promise of targeted modulation of this pathway (e.g., ISR inhibitors), although the clinical efficacy of such strategies in LEUDEN requires further evaluation in controlled studies; early diagnosis and patient stratification are key to developing personalized treatment approaches.

Craniosynostoses (ICD-10: Q75.0) are pathological conditions associated with premature closure of the cranial sutures, resulting in cranial deformity, restricted brain growth and, without timely intervention, severe neurological disorders. They also correlate closely with various syndromal pathologies and are manifested by the presence of additional malformations in patients. Diagnostic difficulty is represented by situations when, in the presence of all phenotypic features of syndromal craniosynostosis, it is not possible to identify a genetic mutation, which requires a more thorough examination and a broad differential diagnosis. In the following clinical observation, we describe a unique case of Pfeiffer-like syndrome in a child with no identified characteristic genetic mutation and a favourable prognosis for life.

Retinopathy of prematurity in active forms forms retinal detachment, sharply limiting visual functions leading to poor vision and blindness, the timely use of vascular endothelial growth factor inhibitors can increase the effectiveness of retinopathy of prematurity treatment. The effect on pathological angiogenesis in retinopathy of prematurity has no experience of widespread use and is an innovative method in ophthalmological practice.
Purpose. To evaluate the effect of the angiogenesis inhibitor aflibercept on the neuro-cognitive functions of premature infants with retinopathy of prematurity.
Material and methods. The prospective cohort study included 20 premature infants diagnosed with retinopathy of prematurity who were treated with the vascular endothelial growth factor inhibitor aflibercept between 2021 and 2022. The ophthalmological status and neuro-cognitive development of patients were assessed according to the Bailey III scale: cognitive, linguistic (receptive and expressive communication), motor (fine and large motor skills).
Results. Hypermetropic refraction was detected in 16 out of 20 patients, and myopic refraction in 4 patients. According to the results of an electrophysiological study (visual evoked potentials), the average amplitude of the P100 component (PpAmp) was 17.5 ± 2.5. The children’s neuro-cognitive and motor skills did not lag behind chronological age. 80% of the subjects showed a slight lag in language skills.
Conclusions. The study shows a moderate decrease in the development of the visual analyzer in children with retinopathy of prematurity. The results of the work showed the absence of toxic effects of aflibercept on the central nervous system, neuro-cognitive and motor skills do not lag behind chronologically, however, language skills in 80% of children have a slight lag, which may be due to a history of posthypoxic damage to the central nervous system in a premature baby

X-linked dominant hypophosphatemic rickets is the most common inherited form of hypophosphatemic rickets, characterized by renal dysfunction, skeletal deformities, and other multi-organ complications. In Russia, since 2022, the first targeted therapy has been approved for clinical use — Burosumab, a monoclonal antibody directed against fibroblast growth factor 23. Initiation of treatment requires confirmation of the diagnosis through molecular genetic testing. This study presents two clinical case reports of patients with X-linked dominant hypophosphatemic rickets. The clinical diagnosis was established at the ages of 7 and 12 years based on a characteristic biochemical profile and radiographic findings. However, causative variants in the PHEX gene (c.2147+1197A>G and chrX:22030553_22033026del) were identified only after whole-genome sequencing, followed by detailed analysis of next-generation sequencing data.

The article outlines the diagnostic approach for one of the most severe forms of hereditary muscular dystrophies, a genetic neuromuscular disorder — Duchenne muscular dystrophy. Cytolysis syndrome of extrahepatic origin and elevated creatine phosphokinase levels in biochemical blood tests may serve as initial diagnostic markers at preclinical or early clinical stages. The presented case highlights a lack of clinical vigilance among primary care physicians regarding this condition. Detection of neurological symptoms, comprehensive physical examination, and assessment of creatine phosphokinase levels in patients with isolated hypertransaminasemia can prevent costly and prolonged investigations for liver diseases and facilitate timely diagnosis of underlying neuromuscular disorders.

Purpose of the study. The analysis of the frequency of elevated liver enzymes in children with measles during the course of the disease. Materials and methods. We conducted an analysis and statistical processing of 523 medical histories of children aged from 2 months to 17 years, hospitalized with a diagnosis of «Measles» in the children’s infectious disease ward of MMCC «Kommunarka», for the period from January 2023 to March 2024. Results. Upon admission to the children’s infectious disease ward with a diagnosis of «Measles» biochemical blood analysis was performed on 521 children. We found that an increase in transaminases up to 5 times or more above normal was observed in 35 children, accounting for 6.7% of the total number of children. The highest number of children with elevated liver enzymes up to 5 or more times normal was among those aged 12 to 17 years — 21 children, which is 60%. However, this elevation was asymptomatic and did not affect the course or duration of the illness. Conclusion. Given the ongoing epidemic instability in the measles incidence, further monitoring of clinical and laboratory data will allow for the development of optimal clinical and diagnostic algorithms for managing patients with measles.

Autoinflammatory diseases are grouped into a large group of pathologies of a genetic or multifactorial nature, characterized by early onset, repeated episodes of systemic inflammation (fever, rash, increased levels of acute phase proteins), unrelated to infections or other more common causes in children. Patients often have a family history that is burdened: there are similar cases among family members. The polymorphism of clinical manifestations of autoinflammatory diseases necessitates a multidisciplinary approach; They are studied all over the world by doctors of various specialties: pediatricians, immunologists, allergologists, rheumatologists, hematologists, etc. The article highlights the issues of diagnosis and differential diagnosis, clinical and laboratory manifestations, genetic diagnosis, complications, therapeutic approaches, algorithms for faster diagnosis, early and timely therapy. The issues raised relate mainly to the most studied and most common recurrent fevers in children in real clinical practice: familial Mediterranean fever, cryopyrin-associated recurrent syndromes, recurrent febrile syndrome associated with mutation of the tumor necrosis factor alpha receptor gene, mevalonate kinase deficiency syndrome.

The article discusses the problems of animal appearance: prevalence in different populations, aspects of geographic and age epidemiology. The most common types of epidermal allergens, their main carriers, possible pathways of epidermal sensitization, risk factors and connections with hereditary predisposition are considered. Attention is focused on the absence of hypoallergenic animal breeds. Cases of the occurrence of allergens in animals in the development of their diseases and their useful variants, basic issues of diagnosis verification and the possibilities of molecular allergy diagnostics are discussed. Attention is paid to the scientific discussion about the immunomodulatory effect of early exposure (prenatally and postnatally) to animal allergens in pet ownership with competitive induction or development of epidermal allergy, or programming of immune tolerance. The authors analyze the effectiveness of traditional methods of preventing epidermal allergies, based on eliminating exposure or avoiding causative triggers, and also consider innovative opportunities for developing tolerance and controlling the content of animal allergens in the environment, which will help solve the problems of long-term prevention and reliably optimize the prognosis.

The article demonstrates the possibility of using the case method for teaching the diagnosis of rare diseases. The virtual diagnosis is based on clinical observation of a child with hiluria (ICD code: R82.0), which is caused by the formation of a lymphoureteral fistula against the background of a malformation of the lymphatic ducts. The difficulties of differential diagnosis of chyluria are due to the fact that it can manifest itself as high-level proteinuria with a decrease in albumin, blood immunoglobulins and the development of edema, i.e. a symptom complex of nephrotic syndrome.
The authors have developed a web application that allows a trained doctor to walk through the stages of the virtual diagnostic process, at each of which it is necessary to analyze the information provided about the patient and make a decision: determine a plan for further examination, «refer» the patient for consultations with specialists, while forming diagnostic hypotheses. The program allows you to evaluate the correctness of the choice of the student’s course of action and explain the error in making the wrong decision. As a result of completing the case, an integral score is calculated and displayed on the screen — the sum of points for correct answers to the questions asked. Repeated passage of virtual diagnostics, as a rule, increases the quantitative criterion, and most importantly, helps to consolidate the knowledge necessary for proper diagnosis. The interactive clinical case can be used to improve the skills of pediatricians, as well as in the process of teaching medical students and clinical residents as an additional tool. The use of the interactive case in the educational process makes it possible to acquire the skills of differential diagnosis within the framework of the presented clinical observation, in particular, to pay attention to the nature of changes in the lipid profile of blood and the physical properties of urine, especially in the case of atypical complaints in the patient. In addition, the presence of a training module in an interactive program, including animation to explain the pathogenesis, allows you to replenish knowledge on many aspects of hiluria.