Introduction: Primary immunodeficiencies (PID) are a group of rare genetic disorders with a multitude of clinical symptoms. Characterization of epidemiological and clinical data via national registries has proven to be a valuable tool of studying these diseases. Materials and Methods: The Russian PID registry was set up in 2017, by the National Association of Experts in PID (NAEPID). It is a secure, internet-based database that includes detailed clinical, laboratory, and therapeutic data on PID patients of all ages. Results: The registry contained information on 2,728 patients (60% males, 40% females), from all Federal Districts of the Russian Federation. 1,851/2,728 (68%) were alive, 1,426/1,851 (77%) were children and 425/1,851 (23%) were adults. PID was diagnosed before the age of 18 in 2,192 patients (88%). Antibody defects (699; 26%) and syndromic PID (591; 22%) were the most common groups of PID. The minimum overall PID prevalence in the Russian population was 1.3:100,000 people; the estimated PID birth rate is 5.7 per 100,000 live births. The number of newly diagnosed patients per year increased dramatically, reaching the maximum of 331 patients in 2018. The overall mortality rate was 9.8%. Genetic testing has been performed in 1,740 patients and genetic defects were identified in 1,344 of them (77.2%). The median diagnostic delay was 2 years; this varied from 4 months to 11 years, depending on the PID category. The shortest time to diagnosis was noted in the combined PIDs-in WAS, DGS, and CGD. The longest delay was observed in AT, NBS, and in the most prevalent adult PID: HAE and CVID. Of the patients, 1,622 had symptomatic treatment information: 843 (52%) received IG treatment, mainly IVIG (96%), and 414 (25%) patients were treated with biological drugs. HSCT has been performed in 342/2,728 (16%) patients, of whom 67% are currently alive, 17% deceased, and 16% lost to follow-up. Three patients underwent gene therapy for WAS; all are currently alive. Conclusions: Here, we describe our first analysis of the epidemiological features of PID in Russia, allowing us to highlight the main challenges around PID diagnosis and treatment.

The revealed identity of problems in different regions of the country allows to consider a common strategy to overcome them, which, obviously, should primarily involve education of medical personnel, restructuring of hospital beds to increase day care beds, increasing the clinical expert work in hospitals.

Increase of effectiveness of intensive care consultative providing of children is an actual problem.Purpose: the analysis of effectiveness of the optimized system of intensive care consultative providing of the emergency medical care to children in the Rostov region.Methods: the retrospective cohort study, including patients of the of intensive care consultative center (ICCC) is conducted. Databases and log-books of patients of ICCC were analyzed. Research period: 2012-I half of 2016. The studied groups: the 1st – 2012-2014 (before optimization, n = 1124), the 2nd – 2015-2016 (after optimization, n = 1432). Effectiveness was estimated on dynamics of a lethality in intensive care unit (ICU), it is padding – dynamics of number of distant consultations, departures and evacuations.Results: Ninety-seven percent of patients of ICCC are evacuated in the ICU. The lethality decreased from 5,1% – in 2012 to 3% in the I half-year 2016. Increased: the number of distant (telephone) consultations for 119,6% from 572 to 1363 in 2015 in comparison with 2014; consultations near the patients for 37,6% with 237 to 326; a share of departures with the subsequent evacuation from 54,8% (338 of 617) in group 1 to 60,8% (270 of 444; p = 0,050) in group 2; indexes “the number of departures evacuations to departures consultations” to 1,8 in the I half-year 2016 in comparison with 1,2 in 2012 and “number of primary consultations to repeated consultations” to 3,1 in comparison with 2,2. Significant strong negative correlation between an index of a lethality, the relation of number of departures evacuations to departures to consultations (р = 0,028) and the relation of primary distant consultations to repeated is revealed (р = 0,026).Conclusion: optimization of reanimation providing advice allowed to lower a lethality in ICU at increase in a flow of the evacuated patients.

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The article analyzes the possibilities of auditing the quality of medical care to improve the efficiency of medical organizations. The audit of the medical organization is a closed cycle to improve the quality of medical care, which should include assessing the actual assistance provided in relation toОднако в настоящее время в педиатрической систе-ме обнаруживается ряд проблем, связанных с недоста-точным знанием медицинским персоналом современных способов диагностики и лечения, актуальных классифи-каций, клинических рекомендаций, а также с плохим материальным обеспечением, в том числе выявляются дефекты управления и организации [2, 3]. Эти факторы существенно снижают качество оказываемой медицин-ской помощи, особенно в педиатрических стационарах.

Improving the quality of medical care is a priority in countries with developed and developing health care system. There are various approaches to improve the quality and safety of patient’s care, as well as various strategies to encourage hospitals to achieve this goal. The purpose of the presented literature review was to analyze existing experience of the implementation of technology of supportive supervision in health care facilities to improve the quality of hospital care delivery. The data sources for publication were obtained from the following medical databases: PubMed, Cochrane Library, Medscape, e-library, and books on the topic of the review written by experts. The article discusses the results of the research studies demonstrating the successes and failures of supportive supervision technology application. Implementation of supportive supervision in medical facilities based on generalized experience of different countries is a promising direction in improving the quality of medical care delivery. This technology opens up opportunities to improve skills and work quality of the staff at pediatric hospitals in the Russian Federation.

Modern approaches for the management of children with gastrointestinal pathologies include optimal nutritional support that makes it possible to replete energy failure and restore essential nutrients balance. The article presents key information on gastrointestinal diseases in which modern amino acid formulas can be used to regulate nutritional status. The authors have conducted the extensive analysis of all available for now evidence on the efficacy, safety and utility of using such innovative medical technology as special elemental formula in gastrointestinal tract pathological conditions. This material is the basis for guidlines on the use of amino acid formulas developed by expert specialists of the Union of Pediatricians of Russia in 2020.

The article presents modern approaches to the use of balanced formulas for nutrition and diet correction in children with various forms of food allergies. The guidelines are based on all available up to date evidence on the efficacy, safety and utility of using such innovative medical technology as specialized amino acid formulas. This formula is the targeted medical intervention for food allergies and confirmed cow's milk protein allergy, and particularly for patients with reduced physical growth and development (growth rates included). The material is based on methodological guidelines on the amino acid formulas usage previously developed by specialist experts of the Union of pediatricians of Russia in 2020.