Introduction. Bronchopulmonary dysplasia (BPD) is a complex disease with a significant genetic predisposition. The aim of the study was to determine genetic markers associated with the development of bronchopulmonary dysplasia in premature infants. Materials and methods. At Stage 1, whole exome sequencing followed by the bioinformatic analysis of one hundred samples was provided to evaluate the genetic variants. Sequencing data were compared with the data of the children without any congenital pulmonary diseases. At Stage 2, the obtained results were validated using real-time PCR. Further the genotyping of the control group (n = 70) was performed. The obtained frequencies of nucleotide variants were compared between the groups, as well as with general population data using the RUSeq database. Results. The prevalence of genetic variant rs12489516 in gene CPA3 was significantly higher in the control group of premature infants (p = 0.03; OR = 0.2; 95% CI: 0.02–0.94). Its presence in the genotype reduces the likelihood of developing BPD by 4.76 times. Moreover, statistically significant differences were also identified in the prevalence of rs45488997 in gene CCN2 (p = 0.023). This genetic variant was specific only for children with bronchopulmonary dysplasia. It was also identified that the prevalence of the nucleotide variant rs45488997 in the CCN2 gene was statistically more common among patients with bronchopulmonary dysplasia compared with the general population (p = 0.005). In addition, genetic variants rs5744174 in gene TLR5 and rs2476601 in gene PTPN22 were less frequently observed in the investigated group compared to the general population (p = 0.03 and p = 0.003, respectively). Conclusion. Identification of genetic markers together with clinical and laboratory data will contribute to the development of an effective predictive model for the calculation of the probability of BPD.

Early detection of such a formidable complication of bronchopulmonary dysplasia (BPD) as pulmonary hypertension (PH) is an urgent problem in pediatrics. Echocardiography is currently recognized as the most accessible and non-invasive method for determining pressure in the pulmonary artery. Disorders of alveogenesis and angiogenesis of the vessels of the small circulatory circle in premature infants forming BPD require careful echocardiographic control with using additional analysis of changes in the systolic eccentricity index (EI) as a reliable marker of PH in BPD infants. To increase the information content, it is also necessary to expand the use of EchoCG data in combination with analysis of the blood content of B type natriuretic peptide or the N-terminal pro-B-type natriuretic peptide.

Introduction. To date, Рalivizumab is the only approved monoclonal antibody preparation used to prevent the development of respiratory syncytial virus (RSV) infection. The aim of the work is to evaluate the benefits of immunization with Palivizumab in premature infants with bronchopulmonary dysplasia in a day hospital of the Federal Center. Materials and methods. One hundred seven infants of different gestational age at birth were immunized with Palivizumab in the day patient department of hospital-replacing technologies. The preparation was administered to infants at risk for the formation of severe consequences of an RSV infection. Results. Of the 107 children hospitalized in the day hospital, 74 premature babies were diagnosed with bronchopulmonary dysplasia (69%). Before immunization all infants were consulted by pediatrician, pulmonologist, and if necessary, other specialists. Discussion. The length of stay of children in a day hospital ranged from 2 to 3.5 hours on average. Each child stayed with their parents in a separate room. During this time period, the patient received the full range of the services associated with immunization. Conclusion. Thus, immunization with Palivizumab in a day hospital of the Federal Center allows implementing a comprehensive multidisciplinary and individual approach to each infant, without exposing him to an undesirable risk of infection, in compliance with the principle of staged nursing of premature infants for patients with a new form of bronchopulmonary dysplasia who need a long follow-up observation.

The problem of providing rehabilitation assistance to the population has been repeatedly discussed in the global community. One of the important events in recent years was the meeting of participants in Rehabilitation 2030: Call to Action, where the problem of increasing dissatisfaction in rehabilitation services worldwide, especially in low- and middle-income countries, was discussed. The upward trend in the need for rehabilitation activities will increase in line with global trends in demographic change associated with the aging population and an increase in the number of people living with sequellae of diseases and injuries. The prevalence of health conditions associated with severe functional limitations, of which many are caused by non-communicable diseases, increased by 9.9% and affected almost 14 million people from 2006 to 2016 in the World Health Organization European Region. Devices for monitoring vital signs can become one of the potentially important components of effective rehabilitation with an increased number of technical means of rehabilitation. The constant transfer of these parameters to the cloud storage, followed by machine learning algorithm processing, will determine the prescribed drug therapy efficiency and determine the need for timely hospitalization for a medical organization. This study aimed to assess the needs of patients with a chronic consciousness impairment, and relatives caring for them, using the possibilities of remote monitoring. The study showed that the use of hospital-replacing outpatient equipment that records the vital signs of patients opens up new opportunities for consolidating the information into a big data archive to assess the treatment efficiency and the characteristics of patient rehabilitation with the implementation of the most optimal measures to influence the rehabilitation process approach.

The article deals with the problems and prospects of applying information technologies in healthcare in Russia. The general model of information technologies, problems and ways of dealing with the restrictions from Western IT companies are highlighted. In view of the digitalization of the healthcare system in our country, the article discusses the need to ensure the continuity and independence from external influence of information technology systems in its full cycle: from client terminals, communication systems, to data storage and processing servers. The most important factor that allows us to speak with confidence about the development of specialized IT solutions in the healthcare system of the Russian Federation is an effective state policy in ensuring the digitalization of the economy: national projects, government programs, changes in legislation, roadmaps for achieving key indicators.

The aim of the work is to analyze the data of Echo-CG examination of premature infants who have formed and have not formed bronchopulmonary dysplasia (BPD) to determine the frequency of the formation of pulmonary hypertension (PH). Materials and methods. A total of 199 preterm infants treated in the Department of Pathology of Newborns were examined. The first group included moderate and severe BPD children (n = 117; 59%). The second group consisted of children without BPD within clearly decreed terms (n = 82; 41%). In each group, patients were divided into four subgroups by the gestational age at birth and the timing of the Echo-CG. Results. Only two (1.1%) patients out of 117 BPD children of the first group were diagnosed with pulmonary hypertension (PH). In 3 (2.5%) of 117 infants of the same group, enlargement of the right heart without PH was revealed. Out of 82 children without BPD, two patients had signs of right heart enlargement. PH was not diagnosed in any of the patients in this group. Discussion. To aggravate the efficiency of PH diagnosis, a number of indices of screening echocardiography seem to be increased by additional analysis of changes in the systolic eccentricity index (EI), as a reliable marker of PH in BPD children. Systolic IE should be integrated into screening in preterm infants for the diagnosis of PH. The use of Echo-CG data along with analysis of blood BNP or NT-proBNP blood content be also expanded. Optimizing the diagnosis of PH at the early stages of BPD is necessary to increase the efficacy of targeted therapy and reduce the risk of severe complications of BPD.

In the President's Address to the Federal Assembly of the Russian Federation in 2020 V.V. Putin clearly outlined the improvement in the social sphere, including material support for the family at the birth of the first and next children. Undoubtedly, such measures will help increase the population in our country. On the healthcare side, there is a potential need to address the increased burden on obstetric and child health providers. An important role in the provision of medical care is played by the rehabilitation service for newborns with various perinatal diseases.

Chronic disorders of consciousness is a complex medical and social problem. Rehabilitation of these patients is one of the most important tasks from both practical and scientific points of view. The lack of a standardized approach and techniques with a large evidence base in the restoration of consciousness, the need for multidisciplinary teams in the rehabilitation process, difficulties in creating a rehabilitation environment, as well as many other problems are acutely faced by patients relatives, doctors, healthcare organizers, scientists. In this article, we will consider approaches to the rehabilitation of patients with chronically impaired consciousness.

According to the World Health Organization, injuries take first place among the causes of death among the population under 40 years of age. In the Russian Federation, in 2019, death from external causes, including injuries, was in third place in all deaths. Among the causes of disability first place. Mortality from severe traumatic brain injury is over 70%. The most common cause of disability and mortality is head injuries. Annually, 1.5 million people die from traumatic brain injury (TBI) in the world, and 2.4 million are disabled. According to the Federal State Budgetary Scientific Institution National Institute of Public Health named after N.A. Semashko, the annual damage from the head injury is estimated at 500 billion rubles. This is a serious socio-economic and state problem requiring complex and multidisciplinary intervention.

The development of medical technologies has led to an increase in the survival of patients with spinal muscular atrophy (SMA). In turn, these drugs have a high cost, which limits their availability for children with SMA. This fact posed new challenges for the science community. Currently, clinical trials of the effectiveness of drugs for the treatment of various types of spinal muscular atrophy are underway. Clinical forms of SMA are grouped into 5 subtypes depending on the severity of the disease and the age of onset of the disease. Type 1 spinal muscular atrophy, or Werdnig-Hoffmann disease, is the most common, accounting for 60% of all cases of the disease. The first positive results of clinical trials of two potentially new and effective drugs Zolgensma and Risdiplam were published recently. Despite this, the inaccessibility of treatment of spinal muscular atrophy creates a serious interdisciplinary problem at the state level, including medical and social rehabilitation, which is important to understand when planning medical care.

Orphan hereditary pathologies are an urgent medical problem. Metabolic diseases have a special place among them. Currently they include about 500 nosological forms, in particular glycogen diseases. Type 1b glycogen disease (GB1b) occupies a special place. In addition to metabolic disorders, patients with this disease have severe neutropenia, which leads to frequent recurrent infectious diseases, such as stomatitis, periodontitis, furunculosis, otitis, colitis, gingivitis. In addition, recent studies showed the presence of lymphocytic dysregulation in patients with GB1b which is associated with T-regulatory lymphocytes dysfunction. It leads to an increased risk of developing autoimmune diseases, such as autoimmune thyroiditis, myasthenia gravis, Crohns disease, ANA-associated vasculitis. In addition, there is evidence about the association of GB1b and oncological pathologies, such as giant bone cell tumor, acute myeloid leukemia. According to such a wide variety of clinical manifestations, knowledge of the pathogenesis and possible non-metabolic manifestations is necessary for proper diagnostics and therapy.

Орфанные наследственные патологии представляют собой актуальную проблему медицины. Особое место занимают метаболические заболевания, к которым в настоящее время относят около 500 нозологических форм, в частности гликогеновые болезни. Гликогеновая болезнь 1b типа (ГБ1b) занимает среди них особую нишу. Помимо метаболических нарушений, пациенты с данным заболеванием имеют выраженную нейтропению, которая приводит к частым рецидивирующим инфекционным заболеваниям, таким как стоматиты, пародонтиты, фурункулёз, отиты, колиты, гингивиты. Кроме того, недавние исследования показывают наличие лимфоцитарной дисрегуляции у пациентов с ГБ1b ― нарушение функции Т-регуляторных лимфоцитов, что приводит к повышенному риску развития аутоиммунных заболеваний, таких как аутоиммунный тиреоиодит, миастения гравис, болезнь Крона, ANA-ассоциированный васкулит. Вдобавок к этому, в литературе есть данные об ассоциации ГБ1b и ряда онкологических патологий, таких как костная гигантоклеточная опухоль, острый миелоидный лейкоз. Учитывая столь обширное многообразие клинических проявлений, знание патогенеза и возможных неметаболических проявлений необходимо для своевременной диагностики и терапии.