Background. Rett syndrome (RS) is a monogenic X-linked hereditary disease caused by pathogenic variants of the MECP2 gene, characterized by regression of psychomotor development, a progressive course, and multisystem manifestations. This condition is associated with high mortality. Despite the considerable amount of accumulated data on the spectrum of MECP2 genetic variants, the pathogenetic mechanisms of disease progression that determine the clinical and laboratory manifestations of RS remain insufficiently studied. Manifestations of hemorrhagic syndrome (epistaxis, ecchymoses) have been described in girls with RS. It is suggested that a prolonged inflammatory process may occur in this category of patients, contributing to coagulation disorders. In addition, there is evidence of the influence of pathogenic MECP2 gene variants on the coagulation system. An additional risk factor is antiepileptic drugs, which can affect both the platelet (reduction of platelet aggregation when interacting with GPIIb/IIIa receptors) and plasma components of hemostasis (decreased fibrinogen levels), potentially increasing the tendency toward hemorrhagic manifestations. Thus, the combination of these factors creates prerequisites for an imbalance in the hemostasis system in patients with RS. In this regard, the study of hemostasis features in this orphan pathology appears relevant.

The aim of the study — to assess the direction of changes in the hemostasis system in girls with RS.

Methods. The main group included 52 girls with a verified diagnosis of RS, followed up at the Pediatrics and Child Health Research Institute in Petrovsky National Research Centre of Surgery from January 2022 to December 2025. The control group consisted of 69 conditionally healthy girls. All children underwent a comprehensive examination, including physical examination, complete blood count, and coagulogram.

Results. The groups were comparable in sex and age. In girls with RS, a statistically significant decrease in the median activated partial thromboplastin time was revealed: 31.15 s (28.9; 33.5) compared with the control group (p = 0.000). At the same time, a statistically significant increase in the plasminogen level was noted: 106% (96; 112), p = 0.004. According to the complete blood count, statistically significant differences from the control group girls were recorded in patients with RS for the following parameters: white blood cell count — 7.84 × 10⁹/L (6.35; 9.02), p < 0.000; lymphocyte count — 3.15 × 10⁹/L (2.62; 3.98), p = 0.003; platelet-to-lymphocyte ratio (PLR) — 90.81 (76.97; 111.58), p = 0.016.

Conclusion. The obtained results indicate an association of RS with changes in the plasma component of hemostasis and activation of the fibrinolytic system. A possible pathogenetic relationship between impaired MECP2 protein function and the development of systemic manifestations, including hemostasis disorders, in patients with RS is suggested.

Background. Juvenile scleroderma (JS) is a rare systemic autoimmune connective tissue disease with onset in childhood, characterized by involvement of the skin, musculoskeletal system and, in the systemic form, internal organs. The severity of inflammation, fibrotic changes and functional limitations leads to a decrease in quality of life (QoL) in a significant proportion of patients.

The aim of the study was to assess QoL in children with JS.

Materials and methods. A cross-sectional study of 67 children was conducted at the V.P. Polyakov Samara Regional Clinical Cardiological Dispensary; the main group included children with JS (n = 51). The control group consisted of 16 children classified as health group 2 with a diagnosis of autonomic dystonia syndrome (ADS). QoL was assessed using the PedsQL 4.0 (Pediatric Quality of Life Inventory) questionnaire, which measures physical, emotional, social and school (role) functioning; the results were presented as median and interquartile range.

Results. Statistically significant differences in the total score were revealed both between children with ADS and patients with JS (p < 0.001 and p = 0.012, respectively), and between children with localized and systemic forms of the disease (p = 0.011). Statistically significant differences were noted in physical, emotional, social, role and psychosocial functioning: in all QoL domains, the scores in children with autonomic dystonia syndrome were higher than in patients with juvenile scleroderma.

Conclusion. QoL indicators in children with JS indicate an unfavorable impact of the disease on the physical and especially on the emotional and role aspects of life, with a marked decrease in psychosocial functioning. This emphasizes the need for regular QoL assessment in pediatric practice for a more complete understanding of the clinical picture in a particular patient and differentiated planning of medical, psychological and educational care depending on the form of the disease.

Background. The use of amino acid formulas (AAF) in severe cow’s milk protein allergy (CMPA) is a generally accepted standard of care for infants. A promising strategy for CMPA control is modulation of the gut microbiota through a synbiotic complex. The high cost of AAF reduces family compliance and limits the effectiveness of therapy, while the lack of clinical and economic evaluations of AAF use in the Russian Federation does not allow for an objective assessment of the reduction in the overall disease burden.

The aim of the study was to conduct a pharmacoeconomic assessment of the use of amino acid-based therapeutic formulas in infants with CMPA in the Russian healthcare system.

Materials and methods. The study included AAF with and without a synbiotic complex, registered for use in the Russian Federation as of the end of 2025 in infants from birth with severe CMPA: Neocate Syneo, Alfare Amino, Nutrilak Premium Amino. A cost-effectiveness analysis and one-way sensitivity analysis were performed.

Results. Annual costs of diet therapy amounted to 414,624 rubles for Neocate Syneo, 394,848 rubles for Alfare Amino, and 331,968 rubles for Nutrilak Premium Amino. At the same time, the use of Neocate Syneo was associated with a significant reduction in the cost of treating complications: 20,698.19 rubles versus 49,261.56 rubles with conventional AAF (58% savings). Total direct medical costs with Neocate Syneo amounted to 435,322.19 rubles per year, which was higher than with Nutrilak Premium Amino (+54,092.63 rubles) and comparable to the costs of Alfare Amino (–8,787.37 rubles). The cost-effectiveness analysis showed that the cost of one case of complete symptom resolution was minimal with Neocate Syneo (640,179.70 rubles), which is 34.5–43.8% more cost-effective compared to other AAF. The advantage of Neocate Syneo was maintained even with an increase in the product price of up to 52% or a decrease in clinical effectiveness of 34%.

Conclusion. The use of Neocate Syneo in infants with CMPA is economically feasible and has a clinical advantage over AAF without a synbiotic component. Neocate Syneo contributes to improved clinical outcomes, reduced risk of complications, improved quality of life and cost optimization in the Russian healthcare system.

In May 2026, the Ministry of Health of the Russian Federation approved new clinical guidelines for the management of children over one year of age with protein-energy malnutrition. The document establishes unified rules for diagnosis, assessment of severity based on weight loss and body mass index, as well as standards for nutritional management and medical care. The guidelines provide a legitimate legal basis for prescribing specialized enteral and parenteral nutrition within the framework of compulsory health insurance, which significantly expands access to nutritional support. The document was developed by members of the Union of Pediatricians of Russia, the Association of Professional Participants in Hospice Care, the Russian Gastroenterological Association, the Autonomous Non-Profit Organization “Society of Pediatric Gastroenterologists, Hepatologists and Nutritionists”, the National Association of Pediatric Rehabilitologists, the Interregional Public Organization “Scientific Community for Promoting the Clinical Study of the Human Microbiome”, and the Russian Organization of Dietitians, Nutritionists and Food Industry Specialists.

Celiac disease is a chronic autoimmune intestinal disease caused by gluten intolerance in genetically predisposed individuals. The global prevalence of celiac disease averages approximately 1–2%, with incidence increasing on all continents, even in populations where celiac disease was previously virtually unknown (Japan, Korea), with many cases remaining undiagnosed. The pathogenesis involves a complex interplay among gluten peptides, HLA-DQ2/DQ8 molecules, other HLA haplotypes, and non-HLA genes, engaging innate and adaptive immunity. Diagnosis is based on serological tests and morphological verification; however, the sensitivity of these methods is limited, particularly in patients on a gluten-free diet or with low-grade lesions. Therefore, new approaches, including proteomic and molecular biomarkers, are being actively explored to complement or even replace invasive methods. The first part of this review examines the proteomic diversity of gluten-containing cereals, focusing on celiac-toxic HLA-DQ2/DQ8 epitopes and allergenic proteins, as well as proteomic changes in blood plasma and duodenal mucosa associated with celiac disease. This includes biopsy proteomic scoring for quantifying mucosal remodeling and serum signatures predicting the development of villous atrophy in children with potential celiac disease. Candidate biomarkers (FGL2, TXNDC5, CHGA; FABP2, CPOX, BHMT, PPP2CB; CDCP1, IL-2, LIF, IL10RA, SIRT2, CST5, IL-4) are identified, and their potential diagnostic and prognostic value is demonstrated. In parallel with proteomic studies, microRNAs are being actively studied as another class of molecular biomarkers. The second part of the review presents data on tissue and circulating miRNAs in celiac disease, focusing on publications from 2021–2025, as well as national literature on potential miRNA-based therapeutic approaches. It is shown that reproducible alterations in the expression of several miRNAs are detected in duodenal biopsies from children with active celiac disease and in the blood of patients, some of which are altered by a gluten-free diet. It is demonstrated that circulating miRNA panels can be used to diagnose celiac disease in children, including those with low titers of IgA antibodies to tissue transglutaminase, and to assess adherence to a gluten-free diet. Prospective studies have described changes in serum miRNAs in the months before TGA seroconversion in at-risk individuals. Methodological issues and the potential of miRNA-targeting oligonucleotides as a platform for diagnostic and therapeutic solutions are discussed. Thus, this review combines two complementary approaches — proteomic and miRNA studies — which together offer new opportunities for risk stratification, early diagnosis, and monitoring of celiac disease and other gluten-associated diseases, as well as for assessing adherence to a gluten-free diet. These technologies provide the basis for a personalized approach to patient management and the development of new therapeutic strategies

The bacterial lysate OM-85 is a well-studied immunomodulator with a favorable safety profile. Its efficacy in the prevention and combination therapy of recurrent respiratory infections in children has been confirmed by numerous clinical trials, which have demonstrated a reduction in infection frequency, antibiotic use, and disease duration. Mechanistically, OM-85 induces interferon synthesis, enhances secretory IgA production, and modulates the T-helper (Th) balance by promoting a Th1-skewed response and activating regulatory T cells. These immunomodulatory properties open up prospects for its use as part of combination therapy in T2-mediated conditions, including bronchial asthma, allergic rhinitis, and atopic dermatitis. Promising directions for further research include evaluating the efficacy of extended OM-85 courses lasting up to 6–9 months, as well as investigating its role in the primary prevention of allergic diseases. Thus, the potential of OM-85 is not limited to the prevention of respiratory infections and may extend to the development of novel approaches for managing a broad range of immune-mediated disorders.

Hepatic forms of glycogen storage disease (GSD) are a group of inherited metabolic disorders where patients require lifetime nutritional treatment, regular intake of raw cornstarch, and strict self-management. Social barriers, insufficient medical support, and psychological factors cause low compliance to treatment, and lead to disease progression, metabolic decompensation, and decrease in patients’ quality of life. This article covers key aspects of GSD hepatic forms pathogenesis, their major clinical signs and laboratory markers, as well as modern management approaches focused on compliance issues. Special attention is given to the analysis of low compliance factors and its consequences. Practical social and medical solutions were proposed: telemedicine platforms, educational programs for families, interdisciplinary monitoring algorithms, and measures to increase the availability of raw cornstarch with prolonged action. The importance of including psychological and pedagogical support in clinical guidelines and standards of medical care to optimize the prognosis and social adaptation of children with GSD was emphasized.

Background. Individual variability in the human population is determined by the polymorphism of genetic material and the influence of environmental factors. Pathological changes in hereditary structures, such as chromosomal aberrations or mutations in genes encoding key proteins, can induce disturbances in the morphofunctional organization of the body. A significant portion of hereditary pathology is caused by enzyme defects leading to dysmetabolism. The phenotypic manifestations of such diseases are complex, including both visible anomalies and clinically latent dysfunctions of internal organs. One such disorder is congenital adrenal hyperplasia (CAH), also known as adrenogenital syndrome and congenital adrenal cortex hyperplasia. CAH is a rare autosomal recessive disorder of steroidogenesis caused by hereditary enzyme deficiency. The pathogenesis of the disease consists in reduced cortisol synthesis, which, through negative feedback, causes chronic hypersecretion of adrenocorticotropic hormone (ACTH). Persistent ACTH stimulation leads to compensatory adrenal hyperplasia and excessive accumulation of precursors shunted into the androgen synthesis pathway.

Case Report. We present our own clinical observation of a child with the salt-wasting form of CAH accompanied by virilization of the external genitalia. The birth of a child with atypical external genitalia (intersex variation), associated with sex uncertainty, typically becomes a serious psychological stress for the family. The need for lifelong hormone replacement therapy and the risk of acute life-threatening conditions (adrenal crises) create persistent anxiety in the parents of patients.

Conclusion. Educational work and psychological support for the parents of patients should become an important therapeutic aspect contributing to the improvement of the child’s quality of life and increasing adherence to treatment.

Background. The study is aimed at improving the safety and effectiveness of newborn care in clinical incubators by combining the results of monitoring the operation parameters of several incubators at a physician’s/ medical post. The distinguishing characteristic of this monitoring lies in its assesses both the newborn’s physiological parameters and, remotely, the environmental conditions within the patient’s immediate vicinity.

Method. The autonomous monitoring is based on the Internet of Things (IoT) principle, employing a feedback mechanism.

Results. The technology of remote monitoring of data on the infant’s skin temperature, as well as air temperature, humidity and noise level in an incubator using an ESP32 microcontroller and Raspberry Pi Zero W microcomputer is substantiated. The minimum permissible measurement errors of the above parameters have been established when using this control method.

Conclusion. The developed technological scheme for remote monitoring of the infant’s skin temperature, combined with environmental parameters, when used simultaneously for several incubators will help optimize the safe and effective care of newborns in critical conditions, especially premature babies.

The leading method for correcting water and electrolyte imbalance in children with grade I–II dehydration is oral rehydration therapy (ORT).

The aim of the study was to minimize the volume of infusion therapy (IT) in children with acute intestinal infections (AII) in hospital settings.

Materials and Methods. The study included 899 children with AII. The main group (MG, n = 442) consisted of patients managed by the authors; the comparison group (CG, n = 457) included children observed by other physicians of the same department. In both groups, oral rehydration with glucose-saline solutions was performed for grade I–II dehydration: in the MG — with a hypo-osmolar solution (245 mOsm/L), in the CG — with a hyperosmolar solution (282 mOsm/L). When ORT was ineffective, IT was prescribed: in the MG — isotonic Sterofundin solution, or Ringer lactate or 0.9% sodium chloride solution if Sterofundin was unavailable; in the CG — glucose-saline solutions (Sterofundin G-5, Normofundin G-5).

Results. Every third case of AII in both groups was attributable to invasive intestinal infections: 31.0% (137/442) in the MG and 31.9% (146/457) in the CG. Patients with grade I–II dehydration predominated in both groups. In children with grade I dehydration in the MG, IT was completely avoided (100% of cases); in grade II dehydration, IT was avoided in 20% of cases. In the CG, every second patient with grade I dehydration received IT, and every fifth patient with grade II dehydration received IT. The duration of dehydration resolution and the severity of the condition, assessed by the number of days, did not differ significantly between the groups.

Conclusion. Fostering maternal adherence to ORT made it possible to reduce the frequency of IT use in children with AII by 3 times.