hrp0097p2-246 | Late Breaking | ESPE2023

Results from a Multi-Stakeholder Meeting on Medical Devices in Paediatric Type I Diabetes

Biester Torben , Reschke Felix , Danne Thomas , Julien Marc , Lusar Irja , Cheng Katharine , Cavaller-Bellaubi Maria , Katz Michelle , Niemoeller Elisabeth , Renard Eric , Sturny Maren , Geertsma Robert , Vassal Gilles

Objectives: To discuss all challenges involved with providing children (including the very young) and adolescents with diabetes (CwD) with the latest appropriate technology, such as automated insulin delivery systems (AIDs), to manage their blood glucose and help improve their quality of life and suggest ways in which access to new types of devices available to adults can be improved for children with T1D.Methods: In con...

hrp0084fc2.3 | Bone & Mineral Metabolism | ESPE2015

High Success of a Next Generation Sequencing Panel for the Molecular Diagnosis of Rare Skeletal Dysplasias

Barreza Jimena , Rivera-Pedroza Carlos I , Sentchordi-Montane Lucia , Vallespin Elena , Montano Victoria E F , Mansilla Elena , Belinchon Alberta , Benito-Sanz Sara , del Pozo Angela , Ibanez Kristina , Gonzalez-Casado Isabel , Guillen-Navarro Encarna , Prieto Pablo , del Pozo Jaime Sanchez , Cruz-Rojo Jaime , Galan Enrique , Lapunzina Pablo , Garcia-Minaur Sixto , Santos-Simarro Fernando , Heath Karen E

Background: A total of 456 skeletal dysplasias have been classified by molecular, biochemical and/or radiological criteria, into 40 groups. Despite this, the precise, final diagnosis is often difficult due to the high phenotypic and genotypic variability.Objective: To improve the molecular and clinical diagnosis of skeletal dysplasias using a custom-designed next-generation sequencing (NGS) panel.Method: A total of 56 skeletal dysp...

hrp0082p1-d3-47 | Bone (1) | ESPE2014

Relation Between CNP Signaling Pathway and the Effect of Combined Treatment with GnRHa and rhGH on the Linear Growth in Mid/Late Pubertal Girls at Great Bone Ages with CPP or EFP

M A Hua-mei , S U Zhe , L I Yin-ya

Objectives: To evaluate the effect of combined treatment with GnRH analogue (GnRHa) and recombinant human GH (rhGH) on the linear growth in mid/late pubertal girls at great bone ages with central precocious puberty (CPP) or early and fast puberty (EFP). To investigate the relation between C-type natriuretic peptide (CNP) signaling pathway and GH’s effect on linear growth in these girls. Methods 22 girls were diagnosed as CPP or EFP, whose bone ages were older than 11.5 ye...

hrp0082p2-d1-457 | Growth | ESPE2014

Relation Between CNP and the Effect of Combined Treatment With GnRHa and GH on the Linear Growth in Mid/Late Pubertal Girls with Central Precocious Puberty or Early and Fast Puberty at Great Bone Ages

Hua-mei M A , Zhe S U , Yin-ya L I

Background: It’s well known that GnRH analogue (GnRHa) could not improve the final height of mid/late pubertal girls with central precocious puberty (CPP) or early and fast puberty (EFP) for their low growth potential.Objectives: To evaluate the effect of combined treatment with GnRHa and GH on the linear growth in mid/late pubertal girls with CPP/EFP at great bone ages. To investigate the relation between C-type natriuretic peptide (CNP) and GH&#14...

hrp0084p3-650 | Bone | ESPE2015

Prevalence of Vitamin D Deficiency in Sickle Cell Anaemic Children in Jos, Nigeria

Abok Ibrahim I , Mukuwhana Rensom , Konrad Katja , Okolo Selina

Background: Children with SCA are six times likely to be vitamin D deficient. The prevalence of VDD in SCA is 65–100% (USA, Jeddah, Spain, England). Reasons for these include: recurrent illness, hospitalization, Increase resting energy expenditure, poor appetite, inadequate food intake, increased energy & micronutrient needs and probably excessive body covering. VDD in SCA is associated with increasing co morbidities. However, there are no studies from Nigeria the cou...

hrp0094p2-372 | Pituitary, neuroendocrinology and puberty | ESPE2021

The impact of the Covid-19 pandemic on the UK National Hypothalamic-pituitary Axis Tumour (HPAT) multidisciplinary meeting

Bosch i Ara Laura , Spoudeas Helen , Wei Gan Hoong ,

Background: The HPAT multi-disciplinary meeting (MDT) was set up in 2011 with the aim to improve collaboration with other hospitals treating children with rare paediatric suprasellar brain tumours. It is a monthly remote meeting conducted virtually.Objective: To evaluate the impact of COVID19 pandemic by comparing the number of meetings, cases (news/previously discussed), diagnosis, attendees, specialties, centres and ou...

hrp0086p1-p190 | Diabetes P1 | ESPE2016

The Association of HLA Class II, CTLA-4 and PTPN22 Genetic Polymorphisms and β-Cell Autoantibodies in Development of Type I Diabetes in Patients with Autoimmune Thyroid Disease

Putarek Natasa Rojnic , Grubic Zorana , Grcevic Danka , Kusec Vesna , Knezevic-Cuca Jadranka , Krnic Nevena , Uroic Anita Spehar , Baretic Maja , Dumic Miroslav

Background: Co-occurrence of type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) denote variant of autoimmune polyglandular syndrome type 3 (APS3v). Thyroid autoimmunity in T1D was widely studied, but a few studies examined β-cell autoimmunity among AITD patients. Several susceptibility genes for APS3v have been identified: HLA class II, CTLA-4 and PTPN22 gene.Objective and hypotheses: To investigate β-cell autoimmunity and genetic poly...

hrp0095p1-234 | Diabetes and Insulin | ESPE2022

Paediatric Post-Prandial Hyperinsulinaemic Hypoglycaemia

Brungs Rosemary , Güemes Maria , Bosch I Ara Laura , Kapadia Sharan , De Coppi Paolo , Shah Pratik

Objective: Postprandial hyperinsulinaemic hypoglycaemia (PPHH) or “late dumping syndrome” is a well-recognised complication following gastrointestinal surgery and has been less commonly identified idiopathically in paediatric patients. This study describes and compares the characteristics, diagnosis, management and outcomes of paediatric idiopathic and surgical PPHH.Design: Retrospective chart review of child...

hrp0095p2-149 | GH and IGFs | ESPE2022

Advancing personalised medicine for growth hormone delivery: mixed-methods participatory study of a next generation, smart auto-injector device

I Labarta José , Rivera-Romero Octavio , Fernández-Luque Luis , Keiser Matthew , Koledova Ekaterina

Background: Treatment of growth hormone deficiency (GHD) requires daily injections over multiple years. Novel technologies facilitate this by automating the injection process – thereby adding comfort and reducing anxiety. An always-connected device, enabled by mobile technologies, also facilitates the collection of injection data such that adherence information is available to healthcare professionals (HCPs) in real-time. In developing new solutions, it ...

hrp0092p1-170 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Efficacy and Safety of Denosumab Treatment in a Boy with Cherubism

Kawamura Haruka , Watanabe Satoshi , I Takashi , Asahina Izumi , Moriuchi Hiroyuki , Dateki Sumito

Introduction: Denosumab is an inhibitor of receptor activator of nuclear factor kappa-B ligand that strongly suppresses differentiation and function of osteoclasts. Cherubism is a rare autosomal dominant disorder characterized by symmetrical swelling of the mandible and the maxilla. In patients with cherubism, the bone is replaced by a fibrous granuloma containing multinucleated giant cells, which are differentiated into activated osteoclasts<p class="abst...