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.