IMPE Abstracts

Impairment of body water and electrolytes homeostasis are frequently observed in pre and post-surgical patients with central nervous system tumors. Central diabetes insipidus (CDI) and the Syndrome of inadequate secretion of antidiuretic hormone represent the most frequently recognized entities with dysnaetremia. However, concomitant cerebral salt wasting syndrome (CSWS), with the characteristic triad of polyuria, hyponaetremia and natriuresis, might challenge the diagnostic s...

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...