[Preclinical diagnostics of von Hippel-Lindau syndrome in a child].

The description of the child aged 5 months with the von Hippel-Lindau syndrome without any manifestations of this syndrome is presented. The reason for the molecular genetic examination was the presence of cases of this syndrome in the family (mother and sister). The heterozygous variant c.355T>C p.F119L was found in the VHL gene. An objective examination revealed no pathology. A comprehensive laboratory and instrumental examination aimed at searching for components of the von Hippel-Lindau syndrome, including a blood test for metanephrines and normetanephrines, ultrasound of the abdominal organs, examination of the fundus, also did not reveal any abnormalities. Given the results of molecular genetic diagnosis, the child remains under observation and will undergo regular examinations to identify components of the von Hippel-Lindau syndrome, including blood/urine tests for normetanephrines.

[Legal issues of the use of continuous glucose monitoring in children with type 1 diabetes].

Continuous glucose monitoring is an effective method of monitoring glycaemia, allowing to achieve optimal glycemic control and reduce the risk of complications of type 1 diabetes mellitus in children. After the approval of the new «Standard of medical care for children with type 1 diabetes (diagnosis and treatment)¼ (registered with the Ministry of Justice of Russia on 02/18/2021 No. 62543), hundreds of lawsuits were initiated in many regions of the country against regional public authorities in the field of healthcare and medical organizations demanding free supply of systems for continuous monitoring of blood glucose levels and/or sensors to them. This article analyzes the current legislation regarding the validity of the claims for free supply of disabled children with type 1 diabetes with continuous glucose monitoring.

[Evaluation of FreeStyle Libre in pediatric t1dm: improved glycemic control, reduction in diabetic ketoacidosis and severe hypoglycemia].

BACKGROUND: Self-monitoring of blood glucose (SMBG) with glucometers provides only a snapshot of the glycemic profile and is accompanied by significant psychological discomfort and pain, especially in children. Flash Glucose Monitoring System - FreeStyle Libre (FSL) overcomes many of the barriers associated with glucose measurement and improves metabolic control. AIM: To evaluate the efficacy of FSL in children with type 1 diabetes mellitus (T1DM) in terms of glycemic control, episodes of severe hypoglycemia (SH) and diabetic ketoacidosis (DKA). MATERIALS AND METHODS: A multicenter, prospective, observational study in real clinical practice was carried out. A total of 469 subjects (258 boys and 211 girls) aged 4-18 were included in the study. The median age was 11.3 (8.4-14.6) years, duration of T1DM - 4.2 (2.1-7.1) years. After FSL start, patient was followed up for 6 months. RESULTS: After 3 and 6 months of FSL use, HbA1c significantly decreased from 7.4% to 7.1% and 7.2%, respectively (p<0.001). The number of children with HbA1c ><7.5% increased from 51% to 60% and 58% at 3 and 6 months, respectively (p><0.001). The incidence of DKA and SH, as well as the proportion of patients experiencing at least one episode of DKA and SH, were significantly reduced after 6 months of FSL use compared with baseline (p><0.001). CONCLUSION: The Study demonstrated a significant improvement in metabolic control in children with T1DM 6 months after FSL start: decrease in HbA1c, accompanied by reduction in incidence of DKA and SH.

[Clinical guidelines «Obesity in children¼].

Childhood obesity is an urgent problem of pediatric endocrinology due to the widespread occurrence, the development of metabolic complications and their steady tracking into adulthood. The developed clinical guidelines are the main working tool of the practitioner. They briefly and structurally present the main information about the epidemiology and modern classification of obesity, methods of its diagnosis and treatment based on the principles of evidence-based medicine.

[Clinical guidelines «Precocious puberty¼].

The precocious puberty is an urgent problem of pediatric endocrinology characterized by clinical and pathogenetic heterogeneity. The appearance of secondary sex characteristics before the age of 8 years in girls and 9 years in boys requires timely diagnosis and the appointment of pathogenetically justified treatment in order to achieve the target indicators of final growth and prevent social deprivation. The developed clinical guidelines are the main working tool of the practitioner. They briefly and structurally present the main information about the epidemiology and modern classification of рrecocious puberty, methods of its diagnosis and treatment based on the principles of evidence-based medicine.