ESPE Abstracts

The aim of this study was to determine the periodontal health status in patients with Hashimoto thyroiditis (HT) and investigate the gingival groove fluid and saline oxidative stress parameters in order to demonstrate their relationship.Method: 30 patients between the ages of 11-17 years and 30 healthy volunteers aged between 10-17 years were included in the study. Serum tT4, TSH, anti-TPO, glucose, insulin, ALT, triglyceride, total chol...

Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by loss-of-function mutations in the gene encoding tissue nonspecific alkaline phosphatase (TNSALP), resulting in hypomineralisation of bone. HPP presenting <6 months of age is often lethal due to respiratory insufficiency, with survival of 42% at 1 year. Asfotase alfa, a human recombinant TNSALP replacement, promotes bone mineralisation, with survival of 95% at 1 year in infants with HPP....

Background: Cystic fibrosis-related diabetes (CFRD) is a common complication in cystic fibrosis (CF). CFRD symptoms and treatment may impose additional burden and adversely affect their QoL.Objective and hypotheses: Assess HRQoL in CF children with normal glycaemia (CFN) and CFRD and evaluate the change in HRQoL over 1 year period along with clinical changes.Method: A prospective study was undertaken including children aged 10&#150...

Background: The origins of 46,XX ovotesticular DSD remains unclear in the majority of the cases. New genetic tools can help identifying genes and loci involved in gonadal development and differentiation.Objective and hypotheses: We report the results of the genetic investigations performed in a 15 years old African adolescent with SRY-negative 46,XX ovotesticular DSD.Method: Clinical evaluation, imaging studies, surgical exploratio...

Objective: To evaluate musculoskeletal development using pQCT in children with coeliac disease (CD) on gluten free diet (GFD) compared with age and gender matched healthy controls.Method: Prospective cross sectional study. 38 children (18 males) with CD on GFD for a duration of 3.6 years (0.6, 12.5) and 38 age and sex matched healthy controls underwent pQCT at 4, 38 and 66% tibial sites. Bloods were collected in CD children only. Results reported as medi...

Background: Quality of life and long-term prognosis are frequently, often severely impaired in craniopharyngioma (CP) patients.Objective and hypotheses: Knowledge of risk factors for long-term outcome is important for optimisation of treatment.Method: Overall survival (OS) and progression-free survival (PFS), BMI, neuropsychological status (EORTCQLQ-C30, MFI-20), and psychosocial status were analysed in 261 patients with childhood-...

Background: Paediatric patients with sellar masses such as craniopharyngioma (CP) or cyst of Rathke’s pouch (CRP) frequently suffer disease- and treatment-related sequelae.Objective and hypotheses: We analysed the impact and prognostic relevance of initial hydrocephalus (HY) and hypothalamic involvement (HI) on long-term survival and functional capacity (FC) in children with CP or CRP.Method: Using retrospective analysis of pa...

Background: Mauriac syndrome (MS) classically involves hepatomegaly (hepatic glycogenosis), growth impairment and cushingoid features in a patient with poorly controlled type 1 diabetes mellitus (T1DM). The typical age of presentation is adolescence. With the advent of improved insulin regimens, MS has seen less frequently. However, new cases appear each year in medical literature.Clinical case: We report the case of a 9 years and 9 months of age male, w...

Introduction: Noonan syndrome (NS) is caused by mutations in RAS/MAPK signaling pathway genes. About 70% of the NS patients have short stature, and human recombinant growth hormone (rhGH) is an established yet not fully standardized treatment.Objective: To assess the first 2 years rhGH treatment effectiveness in NS patients at a single centre.Materials and methods: A total of 20 (16 male) NS patien...

It is noted that with gestational diabetes mellitus, lipids cross the placenta in a limited amount. It is assumed that their concentration in maternal blood correlates with the concentration of lipids in the fetus. The purpose of this study was to compare the levels of the main indicators of the lipid profile, such as cholesterol, triglycerides and high and low density lipoproteins, in newborns and similar indicators in their mothers with gestational diabetes.<p class="abs...