IMPE Abstracts

Background: Catecholamines and its O-methylated metabolites in urine are useful biomarkers for diagnosis of Pheochromocytoma and Paraganglioma (PPGL). Recently, liquid chromatography coupled to tandem mass spectrometry (UHPLC-MSMS) has become the technique that allows the development of analytical methodologies for the specific, precise, and simultaneous determination of different analytes.Objective: To develop and valid...

Introduction: Paragangliomas (PGLs) are uncommon neuroendocrine tumors. These tumors can originate from either the sympathetic or parasympathetic paraganglia. Cardiac PGLs (CPGLs) are extremely rare, as thoracic localization represents less than 2% of PGLs. There are few reported cases in pediatric age. The most frequent cause of inherited phaeochromocytomas/paragangliomas are germline pathogenic variants in Succinate Dehydrogenase Subunit B, C and D genes (SD...

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...