Advantages from “do-it-yourself” loops among children and adolescents in Varna’s Diabetes Center

Introduction: In the last 5 years, the use of automatic insulin delivery systems has been increasing among patients with type 1 diabetes mellitus (T1DM). It has been shown that they improve metabolic control, decrease the time spent in hypoglycemia and the number of episodes of nocturnal hypoglycemia; increase the time spent in target and are feasible and safe.Aim: Our aim is to evaluate the glycemic control in children/adolescents using do-it-yourself (DIY) regulatory unapproved insulin-delivery loops vs sensor-augmented pump therapy (SAP).Materials and Methods: A total of 43 families with child/children with T1DM on pump treatment and continuous use of continuous glucose monitoring (CGM) were invited to participate in the study; 31 (72.1%) of the families accepted. The children were followed for 6 months, a total of 196 patient months.Results: The study group consisted of 31 children with T1DM, 24 (77.4%) of them were on SAP, and 7 (22.6%) used DIY loops. No differences were observed in regard to age, duration of diabetes, and daily insulin dose between groups. Patients on DIY loops spent significantly more time in range (83.0 vs 68.8%, p=0.02), less time in hyperglycemia above 14 mmol/L (2.1 vs 8.6%, p=0.02). They had significantly better HbA1c at the 6th month (6.5 vs 7.2%, p=0.006) vs SAP patients for the follow-up period. No severe hypoglycemia and diabetic ketoacidosis (DKA) occurred. There were no gender differences between and within both groups.Conclusion: DIY unregistered loop systems showed promising results for better metabolic control at least in terms of mean blood glucose levels (BGLs) and without increasing the risk of severe hypoglycemia and DKA. Further impact e. g. mean insulin dose, long-term efficacy, consumed fat/protein in the daily diets, etc., remains to be studied in future larger and longer studies

Childhood obesity, renal injury and future disease risk

INTRODUCTION: Evidence associates obesity with glomerular hyperfiltration. Concurrent inflammation, hypertension, dyslipidemia, and insulin resistance represent further established risks to renal health in both children and adults. Our aim was to investigate the relationship between childhood obesity and the risk of renal impairment.MATERIALS AND METHODS: A total of 114 obese but otherwise healthy children, who were investigated in 2013, were included in the study (mean age 11.5±3.6). Auxology was measured using standard procedures. The pubertal status was defined applying the Tanner scale. Blood and urine tests were performed after overnight fast. Kidney size was measured by standard abdominal ultrasound; kidney volume and estimated glomerular filtration rate were calculated.RESULTS: Microalbuminuria was detected in 8.5% of the children, and 40.2% of all patients were with high systolic blood pressure (BP). Close to half of the children (43.4%) showed insulin resistance (assessed by HOMA-IR) and 95.4% displayed hyperinsulinism. Kidney volume correlated with waist circumference (WC) (left r=0.636, p<0.001; right r=0.532, p<0.001), as well as with weight and elevated systolic BP. Children with hyperfiltration (9.6% of all) at this stage all had elevated total cholesterol and triglycerides. In further 14.3% of the children (all pubertal) the glomerular filtration rate was low, and they had significantly larger kidney volume (left p<0.001; right p=0.004), HOMA-IR (p=0.001), WC and BMI (p<0.001) compared to those with normal and hyperfiltration rate.CONCLUSION: To summarize, childhood obesity showed an association with established risk factors for renal toxicity. Whether kidney volume in obese children has an independent predictive value of future chronic kidney disease remains to be investigated

The natural and the cultural landscapes of the Central Sredna gora as a center of affirmation of ethnic groups

The theme of the article is from the historical geography of Bulgaria. It reveals the complex interaction of human society in the past with the nature. The analysis is based on the relationship between natural and humanitarian geography. It helps to compare the past and the present day and, if it is necessary, conclusions to be used for the future. In this case, the mountain Sredna Gora is an environment for the creation and development of the ethnic diversity of the Bulgarian society. The article is oriented to the scientific researches, but also to the authors of textbooks, to the teachers and to all who love the bulgarian nature

A CASE REPORT OF A CHILD WITH SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS - A RARE BUT POTENTIALLY DANGEROUS DISEASE

Introduction:Juvenile idiopathic arthritis (JIA) is a heterogeneous group of conditions unified by the presence of chronic childhood arthritis without an identifiable cause. Systemic juvenile idiopathic arthritis (sJIA) is a rare form of this group characterised by systemic autoinflammation. It contributes to about two-thirds of the total mortality rate of JIA and is frequently complicated by macrophage activation syndrome. Clinical manifestations of the disease can be non-specific in the beginning and as a result the diagnosis can be delayed.Materials and Methods:We present a 13-year-old boy hospitalized at the St. Marina University Hospital, Varna with complaints of a fever over 38oC accompanied by a rash on the trunk. After physical examination, hyperemic throat, erythematous rash and cervical lymphadenopathy were discovered. The laboratory tests showed leukocytes - 19.32x109/L and CRP - 203.78 mg/l. Echocardiography and computed tomography revealed pericardial effusion and splenomegaly. The patient was diagnosed with acute pericarditis and treated with antibiotics but his condition was not improving. After a month he developed symptoms such as dyspnea, cough and joint pains and was admitted urgently to the Hospital. Further examinations were performed showing hemoglobin- 114 g/l, leukocytes - 23.37x109/L and pleural effusion in addition of the previous objective symptoms.Results: Due to the clinical presentation, the patient was diagnosed with sJIA. Now he is successfully treated with tocilizumab and methotrexate. Conclusion: The clinicians should be aware of sJIA as a disease with various clinical features in the beginning and the resemblance to infectious or malignant diseases. Early diagnosis and effective treatment are essential to achieve the best outcomes for the patients and to prevent fatal complications

Treatment with recombinant growth hormone in children with Turner syndrome: a study from a tertiary university center

Introduction: Turner syndrome (TS) is a rare disease with typical phenotype manifestations and short stature. Part of the therapy in TS patients is the recombinant human growth hormone (rhGH) that leads to improved height velocity and final height.Aim: The aim of the current study is to summarize the results of the diagnosis and treatment with rhGH of the TS patients followed up at a tertiary university center from 2011 to 2020.Patients and Methods: The study design is a retrospective cohort evaluation. All study participants had at least one full year of observation at the center. A total of 28 children with genetically confirmed TS or TS variation karyotype, aged between 2 and 18 years, 92.9 % of whom were girls, participated in the study.Results: The mean age at diagnosis was 9.6±3.7 years. Therapy with rhGH was started at 9.27±3.4 years in 22 (78.5%) of them with a mean rhGH dose of 0.035±0.006 mg/kg/d, which led to height gain of 8.0±1.3 cm for the first year. With a similar rhGH dose for the 2nd year of treatment (0.033±0.007 mg/kg/d), height velocity of 6.8±1.1 cm was achieved (p<0.005). A positive change in SDSheight was observed for the first year of therapy (-2.75±1.2 vs. -2.27±1.2, p=0.005). SDSIGF-1 before and after one treatment year increased significantly (-0.74±1.1 vs.1.57±1.4, p=0.001), without exceeding 2.0 SD.Conclusion: The achieved growth in the presented TS cohort is suboptimal though consistent with the international guidelines for treatment of TS, and could help optimize future treatment approach to TS patients in our center

Glycaemic control among Bulgarian children and adolescents with type 1 diabetes – an impact of the social status and the educational level of the parents

Achievement of optimal glycaemic control in children and adolescents with type 1 diabetes depends on the knowledge of the patients and their parents about the control of the disease and the family support. The aim of this study was to investigate the importance of the social standard of the families determined by the employment of the parents and their educational qualification on the control of diabetes. Two consecutive national multi-centre cross-sectional studies of patients with type 1 diabetes, aged 0–19 years, for HbA1c were conducted in 2012 and in 2014. The first study included 829 patients (422 boys, 407 girls), and the second - 498 patients; 281 patients participated in both studies. The patients whose parents are with primary education showed the highest level of HbA1c in both studies: 9.73% ± 2.38% and 9.27% ± 1.54% in the first, and the second study, respectively. The patients whose parents have university education achieved the best control: HbA1c is 8.45% ± 1.76% and 7.84% ± 1.24%, respectively. The cohorts of diabetic patients whose parents have secondary (p = 0.035) and university education (p < 0.001) showed significant reduction of HbA1c in the second study compared to the first one. The patients in families with unemployed parents or families in which only the mother is employed showed the highest levels of HbA1c. Our results underline the importance of the educational qualification and the social standard of the family for the proper control of this chronic disease

Glycemic control in type 1 diabetes mellitus among Bulgarian children and adolescents: the results from the first and the second national examination of HbA1c

The standardized hemoglobin A1c (HbA1c) test is an essential tool to evaluate the glycaemic control and the diabetes care. The aim of our study was to evaluate and compare the actual HbA1c level in a cohort of Bulgarian patients with type 1 diabetes aged 0–19 years in two consecutive national studies, in 2012 and 2014. We used a standardized method for HbA1c high performance liquid chromatography (HPLC). Тhe survey was conducted in 11 paediatric endocrinology practices in Bulgaria. Overall 829 patients with type 1 diabetes participated in the first study, 422 boys and 407 girls, aged 11.9 ± 4.2 years. The second study included 498 patients: 261 boys and 237 girls, aged 11.6 ± 4.1 years. The mean HbA1c level for the patients studied in 2014 (8.42 ± 1.69%) was significantly lower compared to that in the patients studied in 2012 (8.93 ± 1.98%, p < 0.001). Significantly more patients in the second study (36%) showed optimal control with HbA1c < 7.5% (p < 0.05) compared to those from the first one (24.9%). Teenagers in both studies had higher HbA1c levels compared to the other age groups: 9.19 ± 2.11% in 2012 and 8.8 ± 1.87% in 2014. We found significant differences in the HbA1c levels between the different centres in Bulgaria (from 7.92% to 9.95% in 2012 and from 7.42% to 9.13% in 2014). All age groups, except the teenagers showed improvement in the glycemic control in the second study as a result of continuous and structured education of the patients and their families

Autosomal-recessive mutations in SLC34A1 encoding sodium-phosphate cotransporter 2A cause idiopathic infantile hypercalcemia

Idiopathic infantile hypercalcemia (IIH) is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis. Recently, mutations in the vitamin D catabolizing enzyme 25-hydroxyvitamin D3-24-hydroxylase (CYP24A1) were described that lead to increased sensitivity to vitamin D due to accumulation of the active metabolite 1,25-(OH)2D3. In a subgroup of patients who presented in early infancy with renal phosphate wasting and symptomatic hypercalcemia, mutations in CYP24A1 were excluded. Four patients from families with parental consanguinity were subjected to homozygosity mapping that identified a second IIH gene locus on chromosome 5q35 with a maximum logarithm of odds (LOD) score of 6.79. The sequence analysis of the most promising candidate gene, SLC34A1 encoding renal sodium-phosphate cotransporter 2A (NaPi-IIa), revealed autosomal-recessive mutations in the four index cases and in 12 patients with sporadic IIH. Functional studies of mutant NaPi-IIa in Xenopus oocytes and opossum kidney (OK) cells demonstrated disturbed trafficking to the plasma membrane and loss of phosphate transport activity. Analysis of calcium and phosphate metabolism in Slc34a1-knockout mice highlighted the effect of phosphate depletion and fibroblast growth factor-23 suppression on the development of the IIH phenotype. The human and mice data together demonstrate that primary renal phosphate wasting caused by defective NaPi-IIa function induces inappropriate production of 1,25-(OH)2D3 with subsequent symptomatic hypercalcemia. Clinical and laboratory findings persist despite cessation of vitamin D prophylaxis but rapidly respond to phosphate supplementation. Therefore, early differentiation between SLC34A1 (NaPi-IIa) and CYP24A1 (24-hydroxylase) defects appears critical for targeted therapy in patients with IIH