ESPE Abstracts

Background: According to current literature 1-h glucose ≥155 mg/dl during an oral glucose tolerance test (OGTT) is considered an independent predictor of β-cell deterioration and future progression to prediabetes in obese individuals.Objective and hypotheses: To investigate whether determination of glucose level obtained 1-h after glucose load can improve predictive ability of prediabetes.Method: Ninety-eight overweight/...

Background: Cytosine-guanine(CpGs) sites in molecules identified as methylated or unmethylated; the combination of them in the genetic sequence of an individual includes a methylation haplotype (methyl-haplotype) for a specific locus. The insulin gene promoter(IGP) is highly regulated by methylation mechanisms, which lead to alteration of gene expression.Aim: To identify IGPmethyl-haplotypes among children/adolescents wi...

Background: Osteogenesis imperfecta (OI) due to COL1A1 and COL1A2 mutations is the most common cause of primary osteoporosis.Case presentation: We present a 10-year-old girl with a history of skeletal fragility, starting in the perinatal period. Her parents are not consanguineous and there is no family history of early osteoporosis. To date, she has sustained nineteen low-energy, long bone fractures and she has skeletal deformities (leg length discrepanc...

Background: Fibroblast growth factor 21 (FGF-21) is a complex molecule involved in lipid and glucose metabolism. FGF-21 shares biochemical pathways and sites of action with thyroid hormones. Current data correlate FGF-21 levels to thyroid function. The aim of the present study was to investigate possible associations among FGF-21 levels, resting metabolic rate (RMR), lipidemic profile and L-thyroxin replacement therapy treatment in children and adolescents wit...

Introduction: Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is a well-established genetic locus of type 1 diabetes (T1D). The aim of the present study is to compare the methylation level of PTPN22 between children and adolescents of Greek origin with T1D and healthy controls.Patients and Methods: Twenty T1D participants and 20 age-/gender-matched healthy youngsters were enrolled. DNA was extracted from white blood cells, the...

Introduction: Thyroid dysfunction may cause a wide range of neurological disorders in children. Hypothyroidism is associated with peripheral nerve demyelination. However, minimal data are available in pediatric population.Purpose: To describe a case of newly diagnosed Hashimoto thyroiditis (HT) suffering acute-onset rapidly progressive peripheral polyneuropathy.Case Report: A 12-ye...

Introduction: Insulin (INS) gene is reported to be the most important gene involved in Type 1 Diabetes (T1D); its expression is inversely correlated with methylation at CpG sites. Hypermethylated primers are associated with decreased expression.Aim: The present study aims to investigate possible differences in DNA methylation pattern between T1D youngsters and healthy controls.Patients and Methods: Twenty T1D parti...

Introduction: Diabetic ketoacidosis (DKA) as an inflammatory state combined with the disruption of the normal coagulation cascade can lead patients to an increased risk of thrombosis. Especially, patients that are genetically susceptible to thrombosis could develop deep venous thrombosis (DVT) due to inflammation, dehydration, and hyperviscosity secondarily to DKA. It is noteworthy that children with DKA who underwent central venous catheter placement could develop DVT, especi...

Introduction: Neuropathy, as a complication of type 1 diabetes (T1D), is a heterogeneous group with chronic polyneuropathy being the most frequent form. Acute mononeuropathy is rare and its pathophysiology has not been elucidated.Purpose: To describe acute mononeuropathy during the course of severe ketoacidosis in an 8-year-old girl diagnosed with T1D.Case report: An 8-year old girl was admitted to the Emergency Department because ...

Introduction: HLA-G gene is involved in the control of immune response. It plays a primary role on immune tolerance and may participate in controlling autoimmune responses serving as a potential independent susceptibility marker. HLA-G has been isolated in some secretory granules and on the cell surface of primary islet cells induced to secrete insulin. Subsequently, it could be hypothesized that HLA-G methylation at pancreatic islet could sustain T cell activation and onset o...