[Intestinal ganglioneuromatosis as an early extra-endocrine manifestation of type 2B multiple endocrine neoplasia].

Multiple endocrine neoplasia type 2B (MEN 2B) is a rare variant of hereditary tumor syndromes caused by germinal mutations in the proto-oncogene RET. One of the components of the syndrome is multiple neurinomas, the early detection of  which is not always given due attention. We present a description of the case of MEN 2B, manifested in the first months of life by intestinal ganglioneuromatosis. The disease presented with chronic constipation, including episodes of intestinal obstruction that required repeated surgical interventions. MEN 2B was suspected at the age of 15. At the time of diagnosis, an increase in serum calcitonin levels was noted (1041 pg/ml, norm <9.5 pg/ml), and a node in the thyroid gland was also determined (1,3*1,0*1,2 see, TIRADS 5), subsequently verified as a neoplasm of C-cells. By DNA analysis, a pathogenic variant p.Met918Thr, typical for MEN2 B, was detected in the RET gene. No signs of pheochromocytoma were found at the time of investigation. The patient underwent a thyroidectomy with lymphadenectomy. The difficulties of early diagnosis of sporadic cases of MEN 2B due to the nonspecificity of gastrointestinal manifestations of the disease are discussed.

[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.

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.

[Pre-hospital diagnosis of stroke in children. An analysis of the work of the First aid station in Moscow and the primary pediatric stroke center]. / Dogospital'naya diagnostika insul'tov u detei. Analiz raboty sluzhby skoroi meditsinskoi pomoshchi Moskvy i pervichnogo tsentra po lecheniyu tserebrovaskulyarnoi patologii u detei i podrostkov.

OBJECTIVE: The article presents an analysis of pre-hospital diagnosis of stroke in children. MATERIAL AND METHODS: Pediatric Stroke Center of Morozov Children's City Clinical Hospital (Center) for the period from October 2018 to December 2019, 502 cases of hospitalization of children by the First aid Station to the Center with directing diagnoses of ischemic stroke (IS), haemorrhagic stroke (HS), transient ischemic attack (TIA), vertebrobasilar syndrome (VBS) were analysed. RESULTS AND CONCLUSION: TIA was the most prevalent diagnosis made by the First aid station, with the lowest rate of confirmation after further examination in the hospital (7.8%). The higher rates of confirmation were observed for VBS (31.5%), IS (11.2%) and HI (9.1%). The so-called «masks of stroke¼ were diagnosed in 84.3% cases of hospitalizations that was in line with earlier studies, which reported 50 to 93%. Based on the data on the frequency of symptoms, their combinations and specificity, a screening scale for pre-hospital diagnosis of stroke in children was suggested.

[Formation and Unique Experience of the Center For the Treatment of Cerebrovascular Pathology in Children and Adolescents Located in a Multidisciplinary Pediatric Hospital, as the Only Primary Center of Pediatric Stroke in the Russian Federation].

Stroke is in the top ten causes of children death, ahead of brain tumors. Х-ray diagnostics development has significantly improved the detectability of pediatric stroke. The average incidence of cerebrovascular diseases in children was 13 per 100,000 children annually. The main feature of children's stroke is its multifactorial character, which complicates diagnostic process and requires involvement of doctors of different specialties to determine the leading etiological factors and choose optimal therapy and management tactics. The Center for the Treatment of Cerebrovascular Pathology in Children and Adolescents was established on the basis of Morozov Children City Clinical Hospital by Moscow Healthcare Department, Order No. 169, dated February 27, 2014. The main task was to create a pediatric stroke center on the basis of multidisciplinary Morozov Children City Clinical Hospital, which met the main international requirements of the primary center for pediatric stroke. It was done to improve early diagnostic process, refine the algorithm for maintaining patient data in acute periods, develop preventive measures, maintain city pediatric stroke register, introduce family consultations, coordinate medical care for children with cerebrovascular pathology at various levels in Moscow, and improve medical care quality for children with cerebrovascular pathology and their families. Since April 2014 more than 800 children have undergone inpatient treatment and more than 420 have been treated in outpatient departments of Morozov Children City Clinical Hospital.

[Sturge-Weber syndrome in children. Clinical features, diagnosis and approaches to therapy on the example of three clinical cases]. / Sindrom Shturge-Vebera u detei. Osobennosti kliniki, diagnostiki i podkhodov k terapii paroksizmal'nykh sostoianii na primere trekh klinicheskikh nabliudenii.

Sturge-Weber syndrome belongs to the group of phacomotoses and is characterized by a combined lesion of the skin, eyes, nervous system and internal organs. The clinical course of Sturge-Weber syndrome is quite diverse. Of particular interest in the practice of pediatric neurology and neurosurgery is the fact that 72-90% of patients present with epilepsy. Of particular difficulty is the differential diagnosis of epileptic seizures and stroke-like episodes. The article presents clinical cases of patients with Sturge-Weber syndrome of various ages with epileptic seizures and transient ischemic attacks.