hrp0094p1-28 | Diabetes A | ESPE2021

Glycemic control and changes in habits in patients with type 1 diabetes during the lockdown due to the COVID-19 pandemic

Valls Aina , Murillo Marta ,

Background: The SARS-CoV-2 pandemic has forced the authorities to impose a lockdown to minimize the risk of infection. This extreme and prolonged situation has caused changes in habits, dietary and glycemic control in children with type 1 diabetes (T1D). Continuous glucose monitoring (CGM) and Flash glucose monitoring (FGM) have allowed health care professionals to a remote control of the patients.Aim: The aim of the stu...

hrp0089rfc2.3 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

Measured Free 25-Hydroxyvitamin D in Healthy Children and Relationship to Total 25-Hydroxyvitamin D, Calculated Free 25-Hydroxyvitamin D and Vitamin D Binding Protein

Bosch i Ara Laura , Lopez-Molina Maria , Santillan Cecilia , Murillo Marta , Valls Aina , Bel Joan

Introduction: Vitamin D deficiency in children is still a global health problem. Measuring free 25-hydroxyvitamin D concentrations could provide a better estimate of the vitamin D status than total 25-hydroxyvitamin D (25(OH)D) levels.Objective: To assess the relationship between measured free vitamin D (m-f25(OH)D) and calculated free 25(OH)D (c-f25(OH)D), total 25(OH)D, intact parathyroid hormone (iPTH) and other markers of phosphocalcic metabolism. Es...

hrp0095p1-129 | Growth and Syndromes | ESPE2022

Variegated Mosaic Aneuploidy Syndrome In Two Severely Undersized Siblings

Valls Aina , Ros Andrea , Murillo Marta , Garcia Belen , Martinez Daniel , Maqueda Elena , Berrocal Elena

Introduction: Variegated mosaic aneuploidy syndrome (MVA) is a rare autosomal recessive disease characterized by a variable percentage of chromosomal gains and losses, resulting in multiple mosaic aneuploidies, which explains a great phenotypic variety and may predispose to the development of cancer. Bi-allelic mutations in CEP57 are the cause of MVA2. CEP57 encodes a centrosome protein involved in microtubule stabilization and is crucial for maintaining prope...