Tatiana Egorovna Burtseva

Autosomal recessive polycystic kidney disease (ARPKD, MIM 263200) is one of the severe, rare hereditary diseases from the group of fibrocystic diseases of the liver and kidneys. The average frequency in the population is 1:20,000 – 1:40,000 newborns. This pathology has not been previously described in children in Yakutia. The article presents a severe clinical case of a 7-month-old girl with autosomal recessive polycystic kidney disease (ARPKD), diagnosed antenatally. The disease was characterized by an extremely severe course with rapid progression to the end stage of chronic kidney disease (stage 5 CKD), pronounced portal hypertension with hepatosplenomegaly and ascites, as well as a congenital heart defect (atrial septal defect). Against the background of immunosuppressive therapy, the development of uremia and nutritional deficiency, as well as the child’s prolonged stay in the intensive care unit, severe nosocomial complications developed: ventilator associated pneumonia, perforation of the small intestine with diffuse peritonitis, and sepsis. Despite comprehensive therapy, there was a steady progression of multiple organ failure, which led to a fatal outcome. This case illustrates the difficulties in managing patients with ARPKD and the catastrophically high risk of death when infectious complications develop. Managing patients with ARPKD is a complex task that requires a multidisciplinary approach to therapy and necessitates coordination among neonatologists, anesthesiologists, nephrologists, hepatologists, and surgeons. The prognosis for the disease always remains serious, and the child’s survival directly depends on the extent of kidney and liver damage. The described clinical case demonstrates an aggressive, catastrophically rapid course of ARPKD with early development of end stage CKD, severe portal hypertension, and fatal infectious complications.

It is known that fetal communications are pathological conditions in which elements of intrauterine blood circulation remain after birth, leading to impaired oxygenation and hypoxemia of newborns. The review analyzes the literature sources, examines the causes, pathogenesis, risk factors and correction of fetal communications (functioning ductus arteriosus, open oval window). This pathology is a serious problem requiring immediate intervention in case of its hemodynamic significance. The outcome of treatment depends on early diagnosis and choosing the right management tactics.

Objective. To analyze infant mortality rates in the Republic of Sakha (Yakutia). Materials and methods. A retrospective analysis of infant mortality rates in the Republic of Sakha (Yakutia) for the period 2012–2024 was conducted. Results. During the analyzed period, a historic decrease in infant mortality rates was observed, resulting from years of work implementing large-scale federal and regional programs for maternal and child health protection. The presence of the unique Perinatal Center at the Republican Hospital No. 1 – National Center of Medicine (RH No.1-NCM) and the commissioning of the new Perinatal Center at the Yakutsk Republican Clinical Hospital (YRCH) played a significant role in reducing infant mortality in the Republic of Sakha (Yakutia). A clear patient routing system for pregnant women has been established. The achieved reduction in the overall infant mortality rate in the Republic of Sakha (Yakutia) is not incidental but systemic, ensured by the synchronous improvement of all its components: early neonatal, late neonatal, and post-neonatal mortality. Conclusions. The obtained results will provide a scientific rationale for improving the obstetric-gynecological and neonatal services in the Republic of Sakha (Yakutia) and will form the basis for the national projects "Family" and "Long and Active Life".

The clinical and epidemiological, laboratory features and the effectiveness of therapy for Henoch–Schönlein purpura in the pediatric population of the Sakha Republic (Yakutia) were studied. A retrospective analysis of 326 medical records of children aged 1–18 years treated in the cardiorheumatology department of the Pediatric Center, State Autonomous Institution SR(Y) “Republican Hospital №1 – Nikolaev National Center of Medicine” was conducted. Demographic data, the structure and characteristics of clinical syndromes, laboratory indicators (including immune and coagulation statuses), and immediate results of therapy were assessed. The study revealed that the clinical picture of HSP in children in Yakutsk generally corresponds to classical descriptions; however, a key ethnic feature was identified – a reliably lower frequency of clinically significant renal involvement. The region is also characterized by a high rate of hypercoagulation and persistent infections. The data obtained justify the need for long-term follow-up with mandatory urine analysis and hemostasis monitoring, as well as active sanitation of infection foci.

This study is devoted to the analysis of long-term dynamics morbidity and mortality in the Oymyakon region of Yakutia (2000-2023) in order to justify the need to include the ulus in the Arctic zone. Republic of Sakha (Yakutia). As the analysis showed, the current situation The morbidity and mortality rate of the Oymyakon Ulus population requires special attention not only from the healthcare system but also reflects the population's quality of life. Studies have revealed a number of serious problems, including a high prevalence of HIV infection due to intensive migration due to industrial activity in the district. It has been noted that since 2020, the incidence of community-acquired pneumonia has increased significantly in the district. Mortality rates from circulatory diseases and external causes in the Oymyakon Ulus have been found to be significantly higher than similar data for the Republic of Sakha (Yakutia). Considering established situation, due to demographic aging and logistical challenges, comprehensive measures to improve the accessibility and quality of medical care are needed in the Oymyakon district. To increase the attractiveness of living in the ulus and attract additional funding from the federal budget, it is advisable to include the Oymyakon ulus in the list of Arctic regions of the Sakha Republic (Yakutia).

BACKGROUND : The study of the clinical and epidemiological characteristics of any pathology in regions with a centralized medical care system is very informative. Thus, the Republic of Sakha (Yakutia) is very interesting for conducting epidemiological studies in view of the possibility of accounting for all cases of diabetes in children in the Department of Pediatric Endocrinology and Gastroenterology of the Pediatric Center of the Republic hospital № 1 — the National Center of Medicine named after M.E. Nikolaev (RH№1 — NCM named after M.E. Nikolaev), the population of the region is ethnically heterogeneous. OBJECTIVE : To study the clinical and epidemiological characteristics of type 1 and type 2 diabetes mellitus in the Republic of Sakha (Yakutia). MATERIALS AND METHODS : The article describe the clinical and epidemiological characteristics of type 1 and type 2 diabetes in children in the Republic of Sakha (Yakutia). According to official statistics, an increase in the incidence of diabetes mellitus in children has been revealed in the period from 2018–2024. RESULTS : According to the data of the republican registry of the Department of Endocrinology and Gastroenterology of the Pediatric Center of the RH№1 — NCM named after M.E. Nikolaev, the age of the debut, the ethnic characteristics of the patient population, age-sex characteristics and features of therapy were determined. Over the past 7 years, the Republic of Sakha (Yakutia) has seen a steady increase in the incidence of type 1 and type 2 diabetes among children aged 0–17 years. Yakut and Russian children suffer from type 1 diabetes equally often, and Yakut children mostly suffer from type 2 diabetes. The age of onset of type 1 diabetes is 10–14 years, and girls are more likely to be ill. 90% of children at the onset of type 1 diabetes are admitted in a state of ketoacidosis. In the treatment of type 1 diabetes, a combination of insulin analogues is used, with type 2 diabetes mainly metformin. CONCLUSION : The clinical and epidemiological situation of diabetes mellitus in children and adolescents in the Republic of Sakha (Yakutia) requires special attention and the adoption of new organizational measures within the framework of federal and regional programs.

This article presents a rare case of tuberous sclerosis with cardiac rhabdomyoma in a newborn. Rhabdomyoma is a benign tumor in the heart cavity, arising from embryonic muscle cells, and is frequently associated with tuberous sclerosis (TS), serving as its diagnostic marker. The disease was not detected prenatally. Postnatally, the infant was found to have a heart murmur; within days depigmented patches appeared all over the body, predominantly on the back, groin area, and legs. The diagnosis was established based on echocardiography. To determine further management tactics, a telemedicine consultation was conducted with the Federal Center for Cardiovascular Surgery in Khabarovsk, and the diagnosis was confirmed. Urgent planned surgical intervention was indicated.

Introduction: Rheumatic diseases, including spondyloarthritis, systemic lupus erythematosus, Takayasu’s nonspecific aortoarteritis, Behcet’s disease, and Kawasaki disease, are more prevalent among Asian populations. The indigenous Sakha people, who live in the harsh conditions of the North and the Arctic regions, exhibit a unique pattern of health issues. AIM: The objective of the study is to characterize the ethnic characteristics of juvenile idiopathic arthritis (JIA) among children from the indigenous population of the Republic of Sakha (Yakutia) and compare them with Caucasians (Russians) living in the same region. This comparison aims to inform the development of tailored diagnostic and treatment strategies. Methods: The comprehensive, single-center, retrospective cohort study included medical data of all Sakha (n = 168) and Russian ethnic patients (n = 48) with JIA who were examined and treated at the Pediatric Center’s Cardiorheumatology Department at the Republican Hospital No. 1–M.E. Nikolaev National Center of Medicine—between 2016 and 2023. The ethnicity was self-reported. The standard clinical procedures and laboratory assessments, as well as the current treatment regimen, were thoroughly reviewed. Results: It was found that children of Sakha descent had a later onset of juvenile idiopathic arthritis (JIA), which was associated with the enthesitis-related arthritis (ERA) categories (51.2% vs. 18.3%, p = 0.0002). They also exhibited higher prevalence of enthesitis (19% vs. 2.0%, p = 0.003), sacroiliitis (23.8% vs. 2.0%, p = 0.0003), and HLA-B27 antigen positivity (46.3% vs. 14.6%, p = 0.00005). The Sakha population exhibited a notably higher prevalence (41.7%) of ERA, compared to the Russian population (33.3%; p = 0.0003), and they initiated biologic therapy at a later stage. However, remission rates were lower among Sakha children (29.2%) than among Russian children (72.2%, p = 0.002), as was their likelihood of achieving remission (Log-Rank test, p = 0.005), regardless of the JIA categories (p = 0.008). Sakha children had a 64.4% reduced chance of achieving remission on the first bDMARD, compared to Russian children (HR = 0.36, 95% CI: 0.18–0.71, p = 0.004). Conclusions: Distinct variations in the progression and treatment outcomes of JIA were observed between Sakha children and Caucasians. A tailored approach to the care of JIA patients is essential, considering their ethnic background.

An analysis of the current healthcare issues in the Arctic zone of the Republic of Sakha (Yakutia) has been conducted based on materials from state statistics, data provided by the regional Ministry of Health, and a survey of managers of central district hospitals. The Yakut Arctic comprises 13 districts, and the entire territory occupying over 1.6 million km² is characterized by extremely specific and highly unfavorable ecological and socioeconomic conditions. According to statistical data, since the end of the last century the Yakut Arctic has experienced a negative demographic trend; between 1989 and 2023 the population decreased by nearly 2.5 times (from 146,000 to 65,000 inhabitants). One of the primary causes is the low standard of living, including dissatisfaction with the quality of received medical services. Accordingly, this paper devotes considerable attention to the issues of material and technical support for central district hospitals and the shortage of qualified personnel particularly, narrowly specialized physicians such as infectious disease specialists, psychiatrists specializing in addiction, ophthalmologists, neurologists, etc. The paper outlines the activities of the regional Ministry of Health in addressing several pressing issues, including the operation of mobile medical teams and medical aviation. Practical recommendations are proposed for improving healthcare provision and for attracting medical professionals to work in the remote areas of the republic, including through the provision of preferential conditions for the appointment of labor pensions. The authors emphasize that the organization of healthcare in the Yakut Arctic must be comprehensive, with mandatory support from federal programs and the involvement of the region’s fundamental economic sectors, primarily industry. The integration of new technologies, improvement of infrastructure, and development of programs for retaining and attracting healthcare workers are not only vital for the enhancement of the healthcare system in the Arctic zone of the Republic of Sakha (Yakutia) but also should contribute to reducing population outflow.

Historically the consultative polyclinic of the M.E. Nikolaev National Center of Medicine is the only specialized outpatient medical institution for children from the districts of the republic. Due to the fact that mobile medical teams have been established in the Sakha Republic (Yakutia) since 2022 to provide medical care to the population in remote and hard-to-reach settlements, the study of the pathology structure of children according to the data of referral to the main specialized medical institution is becoming very relevant.Materials and methods. A retrospective analysis of the morbidity of the child population was carried out based on the data of referral to the consultative polyclinic of the Pediatric Center, M.E. Nikolaev National Center of Medicine. 10340 medical records were analyzed.The results of the study: Out of 10,304 patients, 58 % were children from the districts of the republic. Of the districts, residents from nearby districts (Khangalassky, Ust-Aldansky, Namsky) most often apply. Older children mostly come to the consultation (62 %). Nervous diseases rank first in the morbidity structure (40 %), followed by cardiovascular diseases (18 %) and gastrointestinal diseases (10 %).Conclusions: The results of the analysis showed that the most sought-after advisory medical care for children in the fields of neurology, cardiology, and gastroenterology. These specialists must necessarily be included in mobile medical teams, since this profile is populationally significant.