Glycogen storage disease type 0 (GSD 0) is an autosomal recessive disorder of glycogen metabolism caused by mutations in the GYS2 gene manifesting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fasting, and postprandial hyperglycemia and hyperlactatemia. GSD 0 is a rare form of hepatic glycogen storage disease with less than 30 reported patients in the literature so far.

RATIONALE: Continuous subcutaneous insulin infusion (CSII) is an effective method for optimizing glycemic control in children with type 1 diabetes mellitus (DM1). However, the use of CSII does not always result in adequate glycemic control. Telehealth can be applied as one of the methods to improve the effectiveness of treatment.AIMS: To evaluate the use of remote medical support of children and adolescents with DM1 and its influence on glycemic control, quality of life, and incidence of acute complications of DM1.MATERIALS AND METHODS: We conducted a 24-week multi-institutional prospective open-label controlled clinical trial. 180 children and adolescents were included in this study and divided into the following categories: 1) age 8–18 years; 2) DM1 at least 1 year; 3) pump insulin therapy Medtronic Paradigm (Medtronic MiniMed, USA) at least 6 months; 4) self-monitoring of glycemia at least 4 times a day and replacement of the insulin pump infusion system at least once every 3 days; 5) inadequate glycemic control of DM1: the level of glycated hemoglobin (HbA1c) 7.5% or higher. Patients were assigned to a remote consultation group (RC; n=100) or a traditional control group (TC; n=80). All patients were trained on the basic principles of DM1 and CSII, and we measured initial HbA1c, then after 12 and 24 weeks, also registered and analyzed glycemic indicators and daily doses of insulin, evaluated and corrected the treatment. Patients or their parents in the RC group sent pump data via the Internet to the pump insulin therapy center at least once every 2 weeks at home and received treatment recommendations in response.RESULTS: The total number of patients included in the study in all institutions was 180 children at 8–18 years. Patients in both groups did not differ in age, gender, duration of DM1 and CSII, and HbA1c level. The total amount of remote consultations for all institutions was 949. The decrease in the level of HbA1c by the end of the study against the initial one was statistically significantly greater in the RC group: 1.17% compared to 0.59% in the TC group (p<0.05). The proportion of patients who reached the target level of HbA1c (<7.5%) was significantly higher in the RC group (32%) compared to the TC group (12.5%, p<0.05). During the study, the incidence of DKA and severe hypoglycemia in the RC group was statistically significantly lower.CONCLUSIONS: Remote monitoring in children with DM1 resulted in significant improvements in glycemic control (HbA1c, glycemic variability, and hypoglycemic frequency). The accumulation of evidence on the effectiveness and safety of telehealth in DM should contribute to implementing this approach in practical health care.

Background: Currently more than 50 mutations of the INS gene are known to affect the various stages of insulin biosynthesis in the beta cells of the pancreas. However only individual cases of diabetes mellitus (DM) associated with heterozygous mutations in the coding region of the INS gene were reported in Russian Federation. We report a group of patients with a clinical manifestation of DM caused by mutations in both coding and non-coding regions of the INS gene. The patients with a mutation in the intron of the INS gene are reported for the first time in Russian FederationMaterials and methods: 60 patients with an isolated course of neonatal DM (NDM), 52 patients with a manifestation of DM at the age of 7–12 months and the absence of the main autoimmune markers of type 1 DM, 650 patients with the MODY phenotype were included in the study. NGS technology was used for molecular genetic research. Author’s panel of primers (Custom DNA Panel) was used for multiplex PCR and sequencing using Ion Ampliseq™ technology. The author’s panel “­Diabetes Mellitus” included 28 genes (13 candidate genes of MODY and other genes associated with DM).Results: 13 heterozygous mutations were identified in 16 probands and 9 relatives. The majority of mutations were detected in patients with PNDM (18.75%) and in patients with an onset of DM at the age of 7–12 months (9.6%). Mutations in the INS gene were detected in 2 patients (0.3%) in the group with the MODY phenotype. Mutations in the INS gene were not detected in patients with transient NDM (TNDM). Analysis of clinical data in patients with PND and onset of diabetes at the age of 7–12 months did not show significant differences in the course of the disease. The clinical characteristics of the cases of MODY10 and diabetes caused by a mutation in the intron of the INS gene are reported in details.Conclusion: The role of INS gene mutations in NDM, MODY, and DM with an onset at the age of 7–12 months was analyzed in a large group of patients. The clinical characteristics of DM due to a mutation in the intron of the INS gene are reported for the first time in the Russian Federation.

Healthcare associated infections (HAI) — infections that patients develop during the course of receiving healthcare in hospitals, outpatient department and at home, out of healthcare facilities, and infection resulting from occupational exposure. Patients with diabetes are vulnerable to HAI. Infections increase metabolism problems in patients with diabetes; and vice versa, high blood glucose level increases risk of infections. For assuring epidemiological safety for patients with diabetes infection control must be provided for the following medical practices: insulin injections; blood glucose test; care of diabetes foot; intravascular catheterization and surgery. Any invasive procedures increase the HAI risk. HAI are most commonly transferred through direct and indirect contact with the infection. Some of the main HIA preventive practices: staff cleaning hands with alcohol based sanitizer, single use of medical gloves, single use of insulin needles and syringes. In health facilities only multiple users and multiple blood glucose monitoring devices must be used by health providers. The protocol of glucose blood testing should include detailed disinfection procedures and additional measures to decrease the risk of potentially transmitting disease between patients and between patients and providers. Health providers should have special skills to care of patients with diabetes foot to perform non-traumatic procedures and infections control practices. Proper hand hygiene and gloves use combined with effective aseptic technique before catheter insertion and maintenance protect against severe HAI. Risk of infections significantly decreases when single-dose antibiotic was used before surgery as antimicrobial prophylaxis. To disease risk of infections patients should be recommended to strictly control diabetes during the weeks before elective surgical procedures.

BACKGROUND: According to research, only 38% of patients reach glycated hemoglobin targets. It is possible to improve the effectiveness of medical care for children with T1D using modern technologies, including continuous glucose monitoring (CGM). AIMS: To evaluate the effectiveness of outpatient monitoring of children and adolescents with T1D with regular use of professional continuous glucose monitoring. METHODS: The inclusion criteria: age 812 years; T1D at least 1 year; insulin therapy by multiple injections of insulin; inadequate glycemic control of T1D: НbА1с level of 7.5% and higher and / or children and adolescents with frequent episodes of hypoglycemia (usually 4 times a week) or with a history of severe hypoglycemia; signed informed consent. All patients initially and 12 weeks after inclusion in the study conducted a study of the level of НbА1с, and also performed CGM for 6 days. Based on the results of CGM, glycemia indicators and daily doses of insulin were recorded, treatment was evaluated and corrected, and recommendations for self-monitoring were made. Glucose monitoring was carried 120144 hours using the blind method iPro2 (Medtronic, USA). RESULTS: In all, 99 children aged 818 years were included in the study in all centers. The decrease in the level of НbА1с by the end of the study was 0.72%, while the proportion of patients who reached the target level of НbА1с (defined as 7.5%) was statistically significantly higher at the end of the study (15.5% and 2%, respectively; p0.05). During the study, patients showed a trend towards a decrease in the average level and variability of glycemia by the end of the study, however, statistical significance was achieved only in relation to the average level of glycemia (p=0.04). Conducted insulin therapy, determined by the average daily doses of long-acting and short-acting insulin, did not statistically significantly change at the end of the study. The frequency of DKA episodes and severe hypoglycemia did not statistically significantly differ from the initial level. CONCLUSIONS: For children with poor glycemic control of T1D, the use of professional CGM is effective in terms of glycemic control and a safe method.