ESPE Abstracts

Introduction: 5-Hydroxymethylfurfural (HMF) is formed when sugars like glucose and fructose are heated in the presence of amino acids. HMF is naturally present in many foods and we are exposed to HMF in daily life. There are conflicting data on potential genotoxic, mutagenic, carcinogenic, DNA-damaging, organotoxic and enzyme inhibitory effects of HMF and its metabolites. We aimed to investigate toxic effects of HMF on reproductive system in peripubertal rats....

Introduction: Parathormone-related peptide (PTHrP) regulates tissue calcium concentration by acting in paracrine or autocrine ways. It is mostly responsible for paraneoplastic hypercalcemia seen in adults. Paraneoplastic hypercalcemia in children is rarely reported in cancers such as ALL, medulloblastoma and hepatoblastoma (0.4–0.7%). In experimental studies, PTHrP is shown to be synthesized apart from neoplastic tissue (glomerulus and tubule cells).<p class="abstext"...

Background: MicroRNAs (miRNAs) are short non-coding RNAs that repress target gene expression via post-transcriptional mechanisms.Objective and hypotheses: To study the expression of miRNA-25, miRNA-216, miRNA-21, miRNA-93, miRNA-377 in a sample of 100 type 1 diabetic patients with and without microalbuminuria to probe their role in development of diabetic nephropathy.Methods: Hundred type 1 diabetic patients, 50 with microalbuminur...

Background: Maturity-Onset Diabetes of the Young (MODY) is a rare monogenic form of diabetes that result in β-cell dysfunction. MODY accounts for 2–5% of all diabetes cases. We presented here a family with MODY2 caused by a novel heterozygous p.L164I (c.490 C>A) mutation of the GCK gene.Case: A 15,5-year-old girl was admitted to our department because of fasting hyperglycemia. She had no polyuria, polydipsia and weight loss...

Background: Fanconi-Bickel syndrome (FBS) is a glycogen storage disease caused by the homozygous mutations of SLC2A2 gene which codes GLUT2 protein. It is characterized by growth retardation, hepatomegaly and hypophosphataemic rickets. While most of the cases with FBS have fasting hypoglycaemia and postprandial hyperglycaemia, only few cases had been shown to have neonatal diabetes (ND).Case presentation: A 14 days old girl was admitted to hospital with ...

Calcineurin inhibitors (CNIs) are widely used in pediatric transplantation for prevention of graft rejection, prophylaxis and treatment of graft versus host disease. Though hyperkalemia is a common adverse effect (10-45%), alterations in renin-angiotensin-aldosterone system in CNI-induced hyperkalemia are not well elucidated. Consequently, CNIs vital to transplantation are usually switched. Here, we describe two cases with CNI-induced hyperkalemia due to hyporeninemic hypoaldo...

Introduction: Because of the associations and links between abnormal placental weight and both fetal and maternal disorders, it is important to have the national normal standard for placental weight as a normality reference.Aims: To find out the national placental weight standards for babies born between 37th and 43rd weeks of gestation in all groups of males and females babies born AGA, SGA, and LGA.<p class="abstex...

Introduction: Many potential factors can affect or be influenced by placental size. These include gestational age, maternal age, race, socioeconomic status, and gender of the baby.Aim: We investigated the possible association/s between placental weight on the one hand and birth weight, gestational age, maternal age, and gender of the baby in a large cohort of newborns (n = 80722)Me...

Background: Fanconi Bickel syndrome (FBS) is a rare form of glycogen storage disease (GSD) inherited in an autosomal recessive manner and caused by mutations in the SLC2A2 gene leading to the loss of GLUT2 glucose transporter expression. The disease is considered to be rare in which a little more than 100 cases have been reported in the literature. The SLC2A2 gene encodes for GLUT2, a low affinity facilitative glucose transporter expressed in critical tissues ...

Background: The prevalence of atypical genitalia and the time taken to assign sex in such cases remains unclear. Provision of optimum healthcare during this period requires a clear understanding of the occurrence of atypical genitalia.Methods: Prospective electronic survey of clinical members of managed clinical networks in Scotland between 2013 and 2018 seeking notification of term neonates requiring specialist input fo...