[Syndromic growth retardation caused by impaired function of the ribosomal protein eL13].

Growth retardation for more than 2 SD below the average population or presumed familial target height is classified as a short stature and may be a clinical manifestation of a large number of disorders. The use of the latest methods of molecular genetic analysis in recent years has allowed for a better understanding of the pathogenesis of inherited forms of a short stature. One of the recently discovered mechanisms of this pathology was monoallelic mutations in RPL13 gene, leading to the development of Isidor-Toutain type spondyloepimetaphyseal dysplasia (SEDM). Characteristic phenotypic features for this form are normal birth length, early postnatal growth deficiency, platyspondyly, proximal femoral epiphyseal changes, coxa vara, genu varum. This study presents the clinical and radiological characteristics of the first patient in the Russian -Federation with SEMD caused by a mutation in RPL13 gene.

Diabetes mellitus type 1 in children and adolescents in Moscow. Data from the Moscow Segment of the Federal Register of Diabetic Patients 2015-2020.

BACKGROUND: Therapy for type 1 diabetes mellitus (T1DM) is still largely an unsolved clinical problem. Despite the introduction into clinical practice of modern insulin preparations, devices for its administration, as well as continuous monitoring of glucose levels, the goals of therapy are often not achieved. At the same time, the International Diabetes Federation (IDF) notes an increase in the prevalence and incidence of T1DM in children and adolescents in the world. The Federal Register of Diabetes Mellitus (FRDM) is a dynamically updated database of patients with diabetes, which allows assessing prevalence and incidence rates, achievement of glycemic control goals and the incidence of diabetes complications. AIM: analyze the epidemiological data of T1DM (prevalence, morbidity) in children and adolescents (patients from birth to 18 years of age) in Moscow according to the FRSD data and to assess their dynamics, as well as the dynamics of achieving the goals of glycemic control and the incidence of T1DM complications in 2015-2020. MATERIALS AND METHODS: The object of the study is a sample from the database of the Moscow segment of the FRDM of a cohort of patients with type 1 diabetes under 18 years of age who were registered for the period 01.01.2015-01.01.2021. Epidemiological prevalence and incidence rates are calculated per 100,000 of the relevant population. RESULTS: the number of children and adolescents with type 1 diabetes in Moscow as of 01.01.2021 was 4024 people (2962 children and 1062 adolescents). Over the period from 2015 to 2020, there was an increase in the prevalence of T1DM (possibly due to an increase in the quality of data registration in the FRSD) and a decrease in the incidence of both children and adolescents. There was also a decrease in the level of HbA1c and the proportion of patients with HbAc1> 8.0% among children with T1DM. Both children and adolescents with T1DM showed a decrease in the incidence of diabetic coma and ketoacidosis with a simultaneous increase in the incidence of severe hypoglycemia, as well as a decrease in the incidence of retinopathy and nephropathy. However, the incidence of neuropathy decreased among children and increased among adolescents. CONCLUSION: The data obtained on the dynamic management of adolescents with T1DM are the basis for considering the development of a profile program for their dynamic observation, taking into account the need for psychological and social support for patients and their families.