hrp0084p2-257 | Diabetes | ESPE2015

Developing a Targeted, Mobile-Health Technology (E-Book) to Promote Self-Care During Diabetes Transition

Dwyer Andrew , Unal Samaita , Emmanouilidis Severine , Aquarone-Vaucher Marie-Paule , Pichard Silvia , Gyuriga Teresa , Korpes Joelle , Jornayvaz Francois , Gonzalez-Rodriguez Elena , Elowe-Gruau Eglantine , Stoppa Sophie , Zanchi-Delacretaz Anne , Puder Jardena , Amati Francesca , Bouthors Therese , Phan-Hug Franziska , Pitteloud Nelly , Hauschild Michael

Background: For young adults with type 1 diabetes, transition from a paediatric setting to an adult care setting is a vulnerable period with risks for gaps in care. These emerging adults need to develop skills for managing their diabetes yet it is often challenging to cover all anticipatory guidance topics related to type 1 diabetes. In the context of a structured transition clinic, we hypothesized that by leveraging teensÂ’ facility with technology and marketing/design we...

hrp0097fc2.2 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

First Results of the Global ALPL Gene Variant Classification Project

R Farman Mariam , Rehder Catherine , Malli Theodora , Rockman-Greenberg Cheryl , Dahir Kathryn , Ángel Martos-Moreno Gabriel , Linglart Agnès , Ozono Keiichi , Seefried Lothar , del Angel Guillermo , Högler Florian , Barbazza Francesca , K John Lisa , M. A. Delana Mudiyanselage Sewmi , Burner Nading Erica , Huggins Erin , T Rush Eric , El-Gazzar Ahmed , S Kishnani Priya , Webersinke Gerald , Högler Wolfgang

Background: Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase. A major challenge in diagnosing HPP is interpreting variants in ALPL classified as variants of uncertain significance (VUS) according to ACMG/AMP criteria, creating uncertainty in patients and treating physicians resulting in d...

hrp0082p3-d3-756 | Diabetes (4) | ESPE2014

Haemolysis and Acute Pancreatitis During Diabetic Ketoacidosis Treatment in a 14-Year-Old Boy with Unknown Glucose-6-Phosphate Dehydrogenase Deficiency

Ortolani Federica , Tummolo Albina , Torelli Cataldo , Masciopinto Maristella , Fedele Stefania , Lanzillotto Maria Paola , Nicastro Francesco , Papadia Francesco , Vendemiale Marcella , Piccinno Elvira

Background: G6PD deficiency is conventionally affiliated with drug induced oxidative stress, but an association with diabetes mellitus is seldom reported. Hypertriglyceridemia from insulin deficiency can be the cause of severe pancreatitis complicating DKA in children.Case report: A 14-year-old Bulgarian boy, no significant past medical history, hospitalized in Pediatric Surgery Department for abdominal pain, hematemesis insorted during a cruise trip. Re...

hrp0095p1-228 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Effect of burosumab treatment on phosphate metabolism and bone health in patients with X-linked hypophosphatemic rickets (XLH). Preliminary data within an Italian sample.

Baroncelli Giampiero , Comberiati Pasquale , Rita Sessa Maria , Pelosini Caterina , Grandone Anna , Camodeca Rosanna , Emma Francesco

XLH is the commonest inherited form of rickets. Impaired regulation of fibroblast growth factor 23 (FGF23) due to PHEX gene mutation leads to reduced tubular reabsorption of phosphate (TmP/GFR) and 1,25-dihydroxyvitamin D (1,25(OH)2D) synthesis with hypophosphatemia. Patients show rickets and osteomalacia, bone and muscular pain, stunted growth, and reduced quality of life. We report preliminary data on burosumab therapy in a selected sample of Italian patients.<p class="a...

hrp0095p1-434 | Diabetes and Insulin | ESPE2022

Role of glucose variability on linear growth in children with Type 1 Diabetes

Castorani Valeria , Blasetti Annalisa , Polidori Nella , Mastromauro Concetta , Mascioli Ilaria , Chiarelli Francesco , Giannini Cosimo

Objective: Linear growth is impaired in children with type 1 diabetes (T1D) and poor metabolic control. A good metabolic control is a key therapeutic goal to prevent vascular complications but also for ensuring an appropriate anthropometric development during childhood. In this study, we aimed to identify and characterize the effects of glycemic variability on linear growth in children with T1D.Methods: Data from 144 pre...

hrp0095p1-269 | Fat, Metabolism and Obesity | ESPE2022

Characterization of glucose metabolism in obese and overweight children and adolescents during COVID-19 pandemic period

Polidori Nella , Giannini Cosimo , Mastromauro Concetta , Prosperi Sara , Chiarelli Francesco , Mohn Angelika

Background: COVID-19 restriction measurements have enhanced the obesity status in the pediatric population which might further contribute to obesity related glucose-insulin metabolism alterations. Therefore, we retrospectively compared anthropometric and OGTT data on obese children during the 13 years before and during the COVID-19 pandemic period.Subjects/Methods: Data from 741 obese/overweight children were retrieved a...

hrp0095p2-90 | Diabetes and Insulin | ESPE2022

Contribution of 25 Hydroxy Vitamin D to the Risk of Development of Type 1 Diabetes in Children

Touzani Asmae , Cadario Francesco , Chabraoui Layachi , Bennani Naima , Imane Zineb , Amhager Samah , Balafrej Amina.

Objectives: To study the status of vitamin D (25-hydroxyvitamin D, active form) in diabetic an non-diabetic children in comparison with that of Moroccan children who have immigrated to Italy.Material and Methods: 25-hydroxyvitamin D levels were measured by chemiluminescence during the spring-summer season.Patients and Methods: Our cohort consisted of 25 subjects including 17 (9 Boy...

hrp0095p2-154 | GH and IGFs | ESPE2022

Predictive Factors of Adult Height After 2 Years of GH Replacement Therapy in Children with Growth Hormone Deficiency (GHD)

Mastromauro Concetta , Polidori Nella , Gentile Cristina , Chiarelli Francesco , Mohn Angelika , Giannini Cosimo

Introduction: Growth Hormone Deficiency (GHD) represents the most common hormone deficiency during childhood accounting for 3% of causes of short stature. Although growth hormone (GH) replacement therapy is available, several studies have shown a different response in terms of height. Therefore, some reports have tried to characterize predictive factors able to define growth gain during treatment.Objective: Therefore, th...

hrp0092lb-13 | Late Breaking Posters | ESPE2019

Gut Hormones Secretion Across Clusters of Metabolic Syndrome in Obese Prepubertal Children

Polidori Nella , Giannini Cosimo , Tagi Veronica , Mastromauro Concetta , Chiarelli Francesco , Mohn Angelika

Background: Metabolic Syndrome (MS) represent a common dysmetabolic state in obese children and adolescents. Although data in youth show a role of gut hormones in the risk of developing MS, no data are available during the prepubertal age, especially across clusters of MS.Objective: Thus the aims of this study were to evaluate components of the MS in prepubertal obese children compared to controls and to characterize cha...

hrp0092p3-274 | Late Breaking Abstracts | ESPE2019

Role of Adiposity Indexes in the Risk of Ketoacidosis (DKA) in Children with Type 1 Diabetes (T1D) at Onset

Castorani Valeria , Pasquarelli Serena , Chiarelli Francesco , Blasetti Annalisa , Mohn Angelika , Giannini Cosimo

Background: DKA is the most serious life-threatening acute complication of T1D. Few data are available evaluating the possible role of anthropadiposity indexes in paediatric DKA in a selected population of prepubertal children. We aimed to identify the possible correlation between adiposity indexes and the presence and severity of DKA at T1D onset.Methods: 195 prepubertal children (84Female/111Male) diagnosed be...