ESPE Abstracts

Introduction: There are the inconsistent data about a role cellular and humoral immunity in pathogenesis of type 1 diabetes mellitus.The aim: The aim of this research was to study features of the immune status and of the activity of metabolic enzymes in lymphocytes of blood in children with type 1 diabetes.Methods: Cellular and humoral immunity parameters were studied in 94 patient...

Background: Alström Syndrome (ALMS), occurred due to mutations in ALMS1 gene, is a rare otosomal ressesive disorder. Seven hundred cases have been reported so far. Main clinical findings are rod con dystrofy, neurosensorial deafness, obesity and type 2 diabetes. Hypogonadism, hypothyroidism, growth hormone deficiency, hipertryglyceridemia, cognitive dysfunction, cardiomyopathy, renal, hepatic and pulmoner disorders could also be seen.Objective and h...

Background: Carotenoids are potent antioxidants that affect many different metabolic processes. In plasma, carotenoids are transported with lipoproteins. Growth hormone deficiency (GHD) is known to induce oxidative stress and deterioration in the lipid profile, which can change the level and composition of carotenoids. Particularly interesting to measure these parameters in GHD children.Objective and hypotheses: The aim of this study is to examine the am...

Background: Intensive insulin treatment allows a good metabolic control and prevents long-term complications. Basal-bolus regimen is the best treatment for children with type 1 diabetes T1D but requires several insulin injections a day. The needle-fear and discomfort felt by the child and parents/caregivers for insulin administration is one of the main obstacle to good compliance.Objective and hypotheses: To compare glycemic control and satisfaction with...

Background: Silver Russell syndrome (SRS) is an imprinting defect disease.Objective: To study clinical characteristics and imprinting defects in Chinese children with SRS.Methods: Forty-nine SRS cases were studied retrospectively. Out of these 49 cases, 36 were available to be detected chromosome 11p15 imprinting defects and 21 cases were detected uniparental disomy of maternal chromosome 7 (UPD(7) mat).Resul...

Background: The isodicentric Y (idic Y) is one of the most common aberrations of the Y chromosome. Most patients (pts) are chromosomal mosaics, including 45,X cell line.Objective and hypotheses: Our aim is to describe clinical and molecular features of our 45,X/46,Xidic(Y) cases.Method: We retrospectively evaluate the clinical description of nine cases (six females, one male, two with ambiguous genitalia) with mosaic karyotype 45,X...

Background: 45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes, ranging from ambiguous genitalia at birth to patients with a completely male or female phenotype. Turner syndrome stigmata and associated anomalies could be found in these patients.Objective and hypotheses: To evaluate clinical presenting symptom and follow-up data of 30 patients with 45,X/46,XY karyotype.Method: Thirty patients with 45,X/46,XY mosa...

Background: Puberty is characterised by important changes of brain networks. The glutamate system plays a main role in modulating the onset of puberty as shown for NMDA receptor agonists. However, the underlying mechanisms are poorly understood. Metabotropic mGlu5 receptors (mGluR5) are tightly linked to NMDA receptors. The effect of mGluR5 blockade on neurohormonal mechanisms in puberty initiation were not studied yet.Objective and hypotheses: To invest...

Aim: To study incidence and risk factors of diabetic nephropathy (DN) in children and adolescents as per the Republic of Uzbekistan National Register.Method: An information list (card) and appropriate software were developed on the basis of the DN register. The cards were collected in every region of Uzbekistan to be introduced into a computer database.Results: DN screening performed in children by Alikhanova N M in 1998 showed tha...

Background: Non-compliance is a major issue for treatment failure in childhood obesity.Objective and hypotheses: To identify the barriers of adherence to weight management programs, of obese children and adolescents.Method: A descriptive, ongoing study based on phone recorded questionnaires with the use of information from the medical records. The study group consisted of 85 overweight and obese children and adolescents (M/F=46/39)...