hrp0084p2-204 | Bone | ESPE2015

Children with Coeliac Disease on Gluten Free Diet have Normal Bone Mass, Geometry and Muscle Mass

Mackinder M , Wong S C , Tsiountsioura M , Shepherd S , Buchanan E , Edwards C , Ahmed S F , Gerasimidis K

Objective: To evaluate musculoskeletal development using pQCT in children with coeliac disease (CD) on gluten free diet (GFD) compared with age and gender matched healthy controls.Method: Prospective cross sectional study. 38 children (18 males) with CD on GFD for a duration of 3.6 years (0.6, 12.5) and 38 age and sex matched healthy controls underwent pQCT at 4, 38 and 66% tibial sites. Bloods were collected in CD children only. Results reported as medi...

hrp0084p3-1007 | Growth | ESPE2015

Depth and Timing of Hypoglycaemia Achieved During Insulin Tolerance Test in Children

Wong S C , Boroujerdi M , McNeilly J , Morris W , Carson C , Mason A , Shaikh G , Ahmed S F

Background: Achieving adequate hypoglycaemia during the insulin tolerance test (ITT) is important but excessive hypoglycaemia is undesirable. We aim to evaluate factor affecting insulin sensitivity and hypoglycaemia during ITT.Patients and method: 106 children (76 males) who had an ITT (Actrapid 0.1 units/kg) performed between 2009–2013 for evaluation of short stature, poor growth or re-assessment after completion of growth following rhGH therapy. P...

hrp0094p1-129 | Growth A | ESPE2021

Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome

Ciancia Silvia , Goedegebuure Wesley J. , Grootjen Lionne N. , Hokken-Koelega Anita C.S. , Kerkhof Gerthe F. , van der Kaay Danielle C. ,

Introduction: Genetic syndromes often show suggestive facial features that provide clues for the diagnosis. Considering the high number of genetic syndromes and the possible overlap of some features, memorizing facial gestalt is a challenging task for clinicians. DeepGestalt technology, and its app Face2Gene, has a growing impact on the diagnosis and management of genetic diseases by analyzing the features detected in one or more facial images of affected indi...

hrp0094p2-9 | Adrenals and HPA Axis | ESPE2021

Variability of advice and education for steroid sick day dosing in Duchenne Muscular Dystrophy and the impact of the COVID-19 pandemic: Results of a UK wide patient survey

Thakrar S , Cheung MS , Johnson A , Katugampola H , Manzur A , Muntoni F , Mushtaq T , Turner C , Wood C , Guglieri M , Wong SC ,

Introduction: The use of long-term oral corticosteroid in DMD is associated with a range of side effects including secondary adrenal insufficiency. The updated international care consensus (2018) recognizes this important issue and recommends emergency plans to be in place.Aim: This online UK-wide patient survey aims to determine the advice and education given for sick day dosing plans and the impact of the COVID-19 pand...

hrp0095p1-254 | Diabetes and Insulin | ESPE2022

Auxological parameters and metabolic control in children and young patients with type 1 diabetes 1-year after COVID-19 pandemic.

Iughetti Lorenzo , Bruzzi Patrizia , Caccamo Paola , Di Caprio Antonella , Lucaccioni Laura , F. Madeo Simona , Trevisani Viola , Predieri Barbara

Introduction: COVID-19 pandemic, by restricting outside activities, encouraged a sedentary lifestyle due to social distancing and, alongside, an increase in the consumption of canned food and industrialized foods, resulting in a negative impact on the growth of children and young people (CYP). Concerns for consequences in CYP with type 1 diabetes (T1D) rose.Objectives: To investigate 1-year effects of the COVID-19 pandem...

hrp0095p1-435 | Diabetes and Insulin | ESPE2022

Are we sure that the prevalence of SARS-CoV-2 infection is not underestimated? Usefulness of serological antibodies assays in children and adolescents with type 1 diabetes

Predieri Barbara , Bruzzi Patrizia , Meacci Marisa , Caccamo Paola , Di Caprio Antonella , Lucaccioni Laura , F. Madeo Simona , Trevisani Viola , Iughetti Lorenzo

Introduction: The true incidence of SARS-CoV-2 infection in children and young people (CYP) is unclear and data are influenced by testing strategies. CYP have so far accounted for 17.5-22% of diagnosed infections. In adults, diabetes was identified as risk factor for severe symptoms and hospitalization with the COVID-19. Eighteen months into the pandemic, studies in CYP with type 1 diabetes (T1D) reported only an increased prevalence of diabetic ketoacidosis (...

hrp0082p1-d1-147 | Growth | ESPE2014

The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study

Minari R , Vottero A , Azzolini S , Barbaro D , Bindi G , Bozzola M , Burrai C , Cardinale G M , Cioffi D , Cisternino M , Coccioli M S , Delvecchio M , Fabbrizi E , Ferrari M , Gallarotti F , Gallo F , Ghizzoni L , Maggio M C , Mainetti B , Montinaro R , Municchi G , Panariello A , Parpagnoli M , Perrone L , Petraroli M , Radetti G , Radicioni A F , Rossodivita A , Salerno MC , Savasta S , Seminara S , Tafi L , Tomat M , Tummolo A , Wasniewska M , Iughetti L , Bernasconi S

Background: The short stature homeobox-containing (SHOX) gene, located in the telomeric pseudoautosomal region 1 (PAR1) on the short arm of both sex chromosomes, is important for linear growth.Objective and hypotheses: The aim of our study was to evaluate the presence of SHOX gene deletions/point mutations in children with short stature in order to understand the role of SHOX gene in idiopathic short stature (ISS) and estimate its frequency.<p class=...

hrp0092p2-150 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Relations of O2 Supplementation to Blood Serum Insulin-like Growth Factor-II / Insulin-like Growth Factor-binding Protein-3 Ratios in the Not-life-threatened Human Newborn; Role of Oral-enteral Caloric Intake Beyond Axillary Temperature

Terzi Cesare , Virdis Raffaele , Magnani Cristiana , Tridenti Gabriele , Cerioli Andrea , Riani Marco , Chesi Elena , Bernasconi Sergio , De Angelis Gian Luigi , Blum Werner F. , Banchini Giacomo

Introduction: Oral/enteral caloric intake (KOE) insufficiency may accompany human newborn (NWB) respiratory derangements. We detected axillary temperature(TEMP) relations to NWB blood serum Insulin-like Growth Factor-II(IG2)-blood serum Insulin-like Growth Factor-Binding Protein-3(IB3) ratios(IG2/IB3R). Here we evaluate the TEMP-independent relevance of birth gestational age(GA) and KOE to relationships of O2 supplementation in respiratory gases(O2S) with IG2/...

hrp0092p3-133 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Relations of O2 Supplementation to Blood Serum Insulin-Like Growth Factor-I in the Not-Life-Threatened Human Newborn; Role of Oral-Enteral Caloric Intake Beyond Axillary Temperature

Terzi Cesare , Blum Werner F , Magnani Cristiana , Tridenti Gabriele , Cerioli Andrea , Riani Marco , Garavelli Lidia , Bernasconi Sergio , De Angelis Gian Luigi , Virdis Raffaele , Banchini Giacomo

Introduction: Human newborn(NWB) respiratory derangements may be concomitant to oral/enteral caloric intake (KOE) insufficiency. We evidenced a possible involvement of axillary temperature(TEMP) in relationships between preterm birth (PTB) and blood serum Insulin-like Growth Factor-I(IG1) in NWBs. Here we evaluate the TEMP-independent role of birth gestational age(GA) and KOE in relations of O2 supplementation in respiratory gases(O2S) to IG1 in the not-life-t...

hrp0089s6.1 | Molecular Mechanisms of Tissue Sensitivity to Glucocorticoids: Potential Clinical Implications | ESPE2018

Cardiomyocyte Glucocorticoid and Mineralocorticoid Receptors Antagonistically Regulate Heart Disease

Oakley Robert H , Cruz-Topete Diana , He Bo , Foley Julie F , Myers Page H , Willis Monte S , Gomez-Sanchez Celso E , Chambo Pierre , Cidlowski John A

Stress is increasingly associated with cardiac disease. Glucocorticoids are primary stress hormones that regulate homeostasis through two nuclear receptors, the glucocorticoid receptor (GR) and mineralocorticoid receptor (MR). Cardiomyocytes express both receptors but little is known concerning their specific and coordinated actions in heart physiology and pathology. To examine the in vivo function of glucocorticoid signaling in the heart, we generated mice with cardi...