The present study reports on the frequency and the spectrum of genetic variants causative of monogenic diabetes in russian children with non-type 1 diabetes mellitus. The present study included 60 unrelated russian children with non-type 1 diabetes mellitus diagnosed before the age of 18 years. Genetic variants were screened using whole-exome sequencing (WeS) in a panel of 35 genes causative of maturity onset diabetes of the young (ModY) and transient or permanent neonatal diabetes. Verification of the WeS results was performed using Pcr-direct sequencing. a total of 38 genetic variants were identified in 33 out of 60 patients (55%). The majority of patients (27/33, 81.8%) had variants in ModY-related genes: GCK (n=19), HNF1A (n=2), PAX4 (n=1), ABCC8 (n=1), KCNJ11 (n=1), GCK+HNF1A (n=1), GCK+BLK (n=1) and GCK+BLK+WFS1 (n=1). a total of 6 patients (6/33, 18.2%) had variants in ModY-unrelated genes: GATA6 (n=1), WFS1 (n=3), EIF2AK3 (n=1) and SLC19A2 (n=1). a total of 15 out of 38 variants were novel, including GCK, HNF1A, BLK, WFS1, EIF2AK3 and SLC19A2. To summarize, the present study demonstrates a high frequency and a wide spectrum of genetic variants causative of monogenic diabetes in russian children with non-type 1 diabetes mellitus. The spectrum includes previously known and novel variants in ModY-related and unrelated genes, with multiple variants in a number of patients. The prevalence of GCK variants indicates that diagnostics of monogenic diabetes in russian children may begin with testing for ModY2. However, the remaining variants are present at low frequencies in 9 different genes, altogether amounting to ~50% of the cases and highlighting the efficiency of using WES in non-GCK-ModY cases.

Primary immune deficiencies are usually attributed to genetic defects and, therefore, frequently referred to as inborn errors of immunity (IEI). We subjected the genomic DNA of 333 patients with clinical signs of IEI to next generation sequencing (NGS) analysis of 344 immunity‐related genes and, in some instances, additional genetic techniques. Genetic causes of the disease were identified in 69/333 (21%) of subjects, including 11/18 (61%) of children with syndrome‐associated IEIs, 45/202 (22%) of nonsyndromic patients with Jeffrey Modell Foundation (JMF) warning signs, 9/56 (16%) of subjects with periodic fever, 3/30 (10%) of cases of autoimmune cytopenia, 1/21 (5%) of patients with unusually severe infections and 0/6 (0%) of individuals with isolated elevation of IgE level. There were unusual clinical observations: twins with severe immunodeficiency carried a de novo CHARGE syndrome‐associated SEMA3E c.2108C>T (p.S703L) allele; however, they lacked clinical features of CHARGE syndrome. Additionally, there were genetically proven instances of Netherton syndrome, Х‐linked agammaglobulinemia, severe combined immune deficiency (SCID), IPEX and APECED syndromes, among others. Some patients carried recurrent pathogenic alleles, such as AIRE c.769C>T (p.R257*), NBN c.657del5, DCLRE1C c.103C>G (p.H35D), NLRP12 c.1054C>T (p.R352C) and c.910C>T (p.H304Y). NGS is a powerful tool for high‐throughput examination of patients with malfunction of immunity.

The coronavirus pandemic (COVID-19) has become a challenge to higher education worldwide, affecting roughly over 90% of the student community. Due to the pandemic issues, it was essential to adjust the educational process to changing circumstances. Efforts to curb the spread of the disease, including social distancing and self-isolation, have led to the need of initiating a new approach of education and developing effective communications in medical education with the organization of online education from 23.04.2020. The Saint Petersburg state pediatric medical University of the Ministry of health of Russia has adopted the Discord platform for distance learning. Training courses have been organized for physicians working in hospitals that have been sorted out to operate with patients with coronavirus infection using the Moodle platform with access to register and monitor trainees as well. Instructing teachers to work in these Internet scopes required fewest time, which allowed them to switch to distance learning in due time. In order to attest the timeliness and adequacy of the response of the higher medical education system in the context of the COVID-19 pandemic, in this article, the experience of the transfer of the Department of infectious diseases of adults and epidemiology to running educational activities in remote mode. The possibility of conducting online classes not only theoretical, but also practical in the specialties of infectious diseases and epidemiology with students, residents, postgraduates and physicians was demonstrated.

Background: The introduction of Federal state standards of higher education has caused the need to study the quality and condition of specialists postgraduate training in the field of health. In 20172019 at St. Petersburg state pediatric medical university a study aimed at examining the satisfaction of residents with educational training at the faculty of postgraduate and additional professional education was hold, the results of which allowed to identify the problem areas of training in order to further adjust the content and organizational aspects of the quality of training of highly qualified specialists in the field of health protection of citizens of Russia. Aims: The estimation of the quality of postgraduate training of specialists in the field of health care based on the pedagogical reflection of their satisfaction with the process of training during the residency. Methods: The study was conducted by means of a questionnaire consisting of a number of questions stated in the form of appeals aimed at obtaining information illustrating the content, organizational, operational and personal resources of postgraduate education of residents. The respondents were asked to rank their responses according to their satisfaction with the quality of education on the scale that ranged from excellent to very poor. The object of the study was 125 graduates completed their professional training at the stage of postgraduate education in residency at various clinical departments. The duration of the study, including the preparation of analytical materials, the organization, and conduct of the survey, the subsequent analysis of the data, totally amounted to two years. The analysis of the survey results allowed to identify the targets of possible correction of informative, organizational, operational and personal aspects of postgraduate training of doctors. Results: The participants of the study were 125 respondents-resident physicians who completed the educational trajectory in various areas of professional training on the basis of clinical departments of pediatric medical university. It should be noted that the distribution of participants in the questionnaire by graduate clinical departments was characterized as uneven, due to the peculiarities of the plan of admission to the residency, social order from the health care institutions of Russia, and finally, individual educational needs and needs of students. The average age of residents is 26 years. As a result of the study, it was possible to identify informative, organizational and personal problem areas of training of residents. In particular, there were problems in the content of professional education, in the level of pedagogical skills of the teaching staff of clinical departments, in the development of professional competencies of residents, in the content of test tasks in certain specialties. Due to the factor analysis of the results, a semantic space was built that reflects the analysis of the satisfaction of graduates of Spbsmu with the quality of training at the stage of residency. Conclusions: Based on the results of the study, it was possible to identify the targets of correctional work, involving the improvement of organizational, informative, technological and personal resources of the educational program of postgraduate training of residents.

Hypoglycemia is the most common metabolic disorder occurring in early childhood, which can be the first, and sometimes the only symptom of a whole range of diseases. Etiology determines the characteristic clinical features of the course of hypoglycemic syndrome. Diagnosis is complicated by the fact that the clinical manifestations of hypoglycemia are variable and little specific. The main cause of persistent hypoglycemia in children of the first years of life is congenital hyperinsulinism. Congenital hyperinsulinism is a hereditary disease characterized by inadequate hypersecretion of insulin by beta cells of the pancreas. Manifesting as a rule in the neonatal period, congenital hyperinsulinism is a great threat, both in terms of survival of patients with late diagnosis, and in terms of the risks of severe neurological complications with inadequate therapy of emerging hypoglycemia. The article describes a family case of congenital organic hyperinsulinism associated with a rare heterozygous mutation in the ABCC8 gene, the early diagnosis of which allowed avoiding severe complications of the disease and timely prescribing adequate treatment. The clinical variability of the course of the disease in related patients was shown, which required a personalized approach to diagnosis and treatment. Thus, early detection of hypoglycemia, clarification of its etiology, including with the help of molecular genetic analysis, timely drug therapy and monitoring of the state of carbohydrate metabolism, are important aspects in the treatment and supervision of patients with congenital hyperinsulinism and the prevention of severe neurological complications in them.