Abstract Search

hrp0098p2-371 | Late Breaking | ESPE2024

An exploration of a data visualisation web application for rare disease registries.

Panchigar Krish , Tonge Joseph , Bacila Irina , Bryce Jillian , Alimussina Malika , Koley Sanhita , Faisal Ahmed S , R. Lawrence Neil , Krone Nils

Background: Rare disease registries provide rich longitudinal data on patients with rare conditions that can be used for research. Those charged with access to data must safeguard the process, but also have a good oversight of the available data to be able to work with researchers to realistically assess whether there will be adequate data available to answer specific research questions. Data access committees would benefit from a pragmatic method of rapidly a...

0 shares

hrp0097p1-569 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

National service evaluation project analysing the quality of care for children and young people with congenital adrenal hyperplasia in the United Kingdom: Data from patients and clinicians

Bacila Irina , R Lawrence Neil , Ji Xiaochen , Faisal Ahmed S , Alvi Sabah , Bath Louise , Blair Jo , Cheetham Tim , Crowne Liz , H Davies Justin , Dattani Mehul , Gevers Evelien , Krone Ruth , Patel Leena , Thankamony Ajay , Randell Tabitha , Ryan Fiona , Elford Sue , Blackett Sallyann , P Krone Nils

Background: The variation in the provision of services in secondary and tertiary care for children and young people living with CAH in the United Kingdom is unknown. We aimed to conduct a nationwide service evaluation to inform from both the patient and clinician perspective.Methods: We conducted an anonymous multicentre survey using online questionnaires for clinicians and CAH patients/carers. Clinical leads from UK cen...

0 shares

hrp0098p1-8 | Adrenals and HPA Axis 1 | ESPE2024

Leptin and adiponectin are associated with the glucocorticoid dose and androgen concentrations in children and young persons with congenital adrenal hyperplasia: data from the CAH-UK cohort.

A Bacila Irina , R Lawrence Neil , Alvi Sabah , D Cheetham Timothy , Crowne Elizabeth , Das Urmi , T Dattani Mehul , H Davies Justin , Gevers Evelien , Keevil Brian , E Krone Ruth , Lawrie Allan , Patel Leena , Randell Tabitha , J Ryan Fiona , Thankamony Ajay , Faisal Ahmed S , P Krone Nils

Introduction: Patients with Congenital adrenal hyperplasia (CAH) have increased prevalence of obesity and metabolic problems. The underlining mechanisms are not clearly known. Adipokines are likely involved in this association, however, their role in it is not completely understood.Objective: We studied adiponectin and leptin in children and young persons with CAH, in relation to their body mass, treatment, hormonal and ...

0 shares

hrp0095p1-3 | Adrenals and HPA Axis | ESPE2022

Blood pressure (BP) status in Congenital Adrenal Hyperplasia (CAH) – longitudinal analysis of real world data from the I-CAH registry

R. Lawrence Neil , Bacila Irina , Dawson Jeremy , R. Ali Salma , LT van den Akker Erica , Aparecida Sartori Sanchez Bachega Tânia , Baronio Federico , Holtum Birkebæk Niels , Bonfig Walter , Claahsen van der Grinten Hedi , Cools Martine , Correa Costa Eduardo , de Vries Liat , Flück Christa , Gazdagh Gabriella , Güven Ayla , Hannema Sabine , Iotova Violeta , J van der Kamp Hetty , Krone Ruth , Leka-Emiri Sofia , Clemente León María , Raducanu Lichiardopol Corina , L. Markosyan Renata , Milenkovic Tatjana , Costa de Miranda Mirela , Neumann Uta , Newell-Price John , Poyrazoğlu Şükran , Probst-Scheidegger Ursina , Russo Gianni , De Sanctis Luisa , Safwaan Adam , Seneviratne Sumudu , Rita Stancampiano Marianna , Tadokoro-Cuccaro Rieko , Thankamony Ajay , Vieites Ana , Wasniewska Malgorzata , Yeste Diego , Daniel Eleni , Tomlinson Jeremy , Faisal Ahmed S. , Krone Nils

Introduction: Data on BP in children with classic congenital adrenal hyperplasia (CAH) is inconsistent.Aim: To assess the trend in BP throughout childhood using data from the International CAH registry and compare this to normative data from the American Academy of Paediatrics (AAP).Method: This retrospective multi-centre study included 37 centres from 20 countries. BP data was ana...

4 shares

hrp0098p1-6 | Adrenals and HPA Axis 1 | ESPE2024

Impact of Fludrocortisone on Blood Pressure in Young Children Under 5 with CAH in the I-CAH Registry: Autoregressive Causal Inference Analysis

R. Lawrence Neil , Bacila Irina , Tonge Joseph , Dawson Jeremy , S. Collins Gary , Lang Zi-Qiang , Bryce Jillian , Alimussina Malika , Chen Minglu , R. Ali Salma , Adam Safwaan , L.T. van den Akker Erica , A.S.S. Bachega Tânia , Baronio Federico , H. Birkebæk Niels , Bonfig Walter , Claahsen–van der Grinten Hedi , Cools Martine , C. Costa Eduardo , Debono Miguel , de Vries Liat , Flück Christa , Gazdagh Gabriella , Güven Ayla , Hannema Sabine , Iotova Violeta , J. van der Kamp Hetty , Krone Ruth , Leka-Emiri Sofia , Clemente-León María , R. Lichiardopol Corina , L. Markosyan Renata , Milenkovic Tatjana , C. Miranda Mirela , Neumann Uta , Newell-Price John , Poyrazoğlu Şükran , Probst-Scheidegger Ursina , Rey Rodolfo , Russo Gianni , De Sanctis Luisa , N. Seneviratne Sumudu , R. Stancampiano Marianna , Tadokoro-Cuccaro Rieko , Thankamony Ajay , Vieites Ana , Wasniewska Malgorzata , Yeste Diego , Tomlinson Jeremy , Faisal Ahmed S , Krone Nils

Background: The International Congenital Adrenal Hyperplasia (CAH) Registry provides rich longitudinal data from CAH patients with 21 Hydroxylase deficiency. We estimated the average total causal effect of fludrocortisone on blood pressure in patients with CAH by modelling within a causal inference framework.Methods: We constructed a directed acyclic graph (DAG) with domain experts (using Dagitty.net) to establi...

0 shares

hrp0098p1-7 | Adrenals and HPA Axis 1 | ESPE2024

Variation in Blood Pressure in Young Adults with 21a-Hydroxylase Deficiency: Longitudinal Multilevel Modelling of Data from the I-CAH Registry

R. Lawrence Neil , Bacila Irina , Tonge Joseph , Dawson Jeremy , S. Collins Gary , Lang Zi-Qiang , Bryce Jillian , Alimussina Malika , Chen Minglu , R. Ali Salma , Adam Safwaan , L.T. van den Akker Erica , A.S.S. Bachega Tânia , Baronio Federico , Bonfig Walter , Claahsen-van der Grinten Hedi , Cools Martine , C. Costa Eduardo , Debono Miguel , de Vries Liat , Flück Christa , Gazdagh Gabriella , Güven Ayla , Hannema Sabine , Iotova Violeta , J van der Kamp Hetty , Krone Ruth , Leka-Emiri Sofia , Clemente-León María , R. Lichiardopol Corina , L. Markosyan Renata , Milenkovic Tatjana , C. Miranda Mirela , Neumann Uta , Newell-Price John , Poyrazoğlu Şükran , Probst-Scheidegger Ursina , Russo Gianni , De Sanctis Luisa , N. Seneviratne Sumudu , R. Stancampiano Marianna , Tadokoro-Cuccaro Rieko , Thankamony Ajay , Vieites Ana , Wasniewska Malgorzata , Yeste Diego , Tomlinson Jeremy , Faisal Ahmed S , Krone Nils

Background: Alterations in blood pressure in treated CAH due to 21 hydroxylase deficiency is contentious, with studies reporting different effects. We used data from young adults entered into the I-CAH registry to assess the change in blood pressure readings recorded within patients over time.Methods: We used longitudinal mixed effects modelling (LMEM) in R to account for repeated measures in two levels within patients a...

0 shares

hrp0098fc4.1 | Adrenals and HPA Axis 1 | ESPE2024

Real world data analysis of contemporary therapy and its association to anthropometric outcomes in 1500 patients with congenital adrenal hyperplasia (CAH).

A Bacila Irina , R Lawrence Neil , Balagamage Chamila , Bryce Jillian , R Ali Salma , Alimussina Malika , Chen Minglu , Bhushan Arya Ved , Atapattu Navoda , A Bachega Tânia , Barat Pascal , Baronio Federico , Bertelloni Silvano , Birkebæk Niels , Bonfig Walter , de Bruin Christiaan , Claahsen – van der Grinten Hedi , Cools Martine , Costa Eduardo , Crowne Elizabeth , H Davies Justin , Debono Miguel , de Vries Liat , Dumic Kubat Katja , Elsedfy Heba , Evliyaoglu Olcay , Flüeck Christa , Gazdagh Gabriella , German Alina , F Gevers Evelien , Globa Evgenia , Guran Tulay , Güven Ayla , Guazzarotti Laura , Hannema Sabine , Hatipoglu Nihal , Janus Dominika , van der Kamp Hetty , Karabouta Zacharoula , Krone Ruth , Lenherr Taube Nina , Leka-Emiri Sofia , Lichiardopol Corina , Mamdouh Hassan Mona , Marginean Otilia , Markosyan Renata , Mazen Inas , Miles Harriet , L Mitchell Anna , Mohnike Klaus , Neumann Uta , Niedziela Marek , Nordenstrom Anna , M O’Connell Susan , Phan-Hug Franziska , Poyrazoglu Sukran , Probst-Scheidegger Ursina , Rey Rodolfo , Russo Gianni , Salerno Mariacarolina , de Sanctis Luisa , N Seneviratne Sumudu , Segev-Becker Anat , Shenoy Savitha , Skae Mars , Thankamony Ajay , Ucar Ahmet , Utari Agustini , Vieites Ana , Wasniewska Malgorzata , Faisal Ahmed S , P Krone Nils

Introduction and Objective: Previous evidence from the I-CAH registry showed wide variation of glucocorticoid (GC) replacement between different countries and centres. We wanted to explore the impact of different GC doses on height and weight in children and young people with CAH.Methods: We analysed data from patients under 18 years with 21-hydroxylase deficiency recorded in the I-CAH registry from assessments since 200...

0 shares

ESPE Abstracts

An exploration of a data visualisation web application for rare disease registries.

National service evaluation project analysing the quality of care for children and young people with congenital adrenal hyperplasia in the United Kingdom: Data from patients and clinicians

Leptin and adiponectin are associated with the glucocorticoid dose and androgen concentrations in children and young persons with congenital adrenal hyperplasia: data from the CAH-UK cohort.

Blood pressure (BP) status in Congenital Adrenal Hyperplasia (CAH) – longitudinal analysis of real world data from the I-CAH registry

Impact of Fludrocortisone on Blood Pressure in Young Children Under 5 with CAH in the I-CAH Registry: Autoregressive Causal Inference Analysis

Variation in Blood Pressure in Young Adults with 21a-Hydroxylase Deficiency: Longitudinal Multilevel Modelling of Data from the I-CAH Registry

Real world data analysis of contemporary therapy and its association to anthropometric outcomes in 1500 patients with congenital adrenal hyperplasia (CAH).

BiosciAbstracts