IMPE Abstracts

Introduction: Most paediatric rare diseases have an underlying genetic cause but making a molecular diagnosis is often still a challenge. The incorporation of Next Generation Sequencing (NGS) technologies into research and clinical workflows has improved the diagnosis of these disorders.Objective: To evaluate the process of NGS implementation for the diagnosis of genetic endocrine diseases in a tertiary public paediatric...

To describe the BMD at FH of well-controlled PKU patients we retrieved retrospectively, data from 18 compliant moderate/severe patients (7 female), under conventional treatment since diagnosis. Eleven had received sapropterin dihydrochloride (BH4) since puberty, increasing their phenylalanine intake. FH, mid-parental height (MPH), genotype, fractures, and tolerance to phenylalanine intake (tol) before and after BH4 were considered. Total Body (TB) and Lum...

Introduction: Graves’ disease (GD) is an immune-mediated thyrotoxicosis characterized by hypertrophy and hyperplasia of the thyroid follicles and accounts for 50-80% of all cases of pediatric hyperthyroidism. Thyroid nodularity is a common feature of GD, with an estimated prevalence of 25% – 53%. Thyroid nodules are less common among children than adults, being 20% malignant. The presence of GD and toxic nodular goiter is a rare finding, known as M...

Background: Since August 1985 we started a neonatal screening program for 1) Congenital Hypothyroidism (CH) and 2) Phenylketonuria /Hyperphenylalaninemias PKU/HPA) adding to the program in 1997 3) Cystic Fibrosis (FQ) 4) Galactosemia (GAL) and 5) Congenital Adrenal Hyperplasia (CAH), in 2006 6) Biotinidase Deficiency (BD) and in 2013 7) Maple syrup disease (MSUD).Objective: To Communicate the results of the implemented p...

In pediatrics, thyroid tumor stratification is difficult to assess. Epithelial-mesenchymal transition (EMT), plays a role in tumor development. In human carcinomas Brachyury (Brachy) has been identified as a regulator of EMT associated to malignancy. The Insulin Like Growth Factors (IGFs) are mitogens that play important roles in both normal and neoplastic growth. To date, no information about Brachy and IGF1R expression in pediatric thyroid nodular disease is available.<p...

Recalled newborns in the screening for Congenital Adrenal Hyperplasia (CAH) could be due to analytical steroid interferences. Ultra-high pressure liquid chromatography coupled to tandem mass spectrometry (UHPLC-MS/MS) constitutes the gold standard for serum steroid quantification.Objective: To describe the serum profile of a panel of 8 adrenal steroids by UHPLC-MS/MS in recalled infants for CAH.Methods:</st...