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Endocrine Abstracts

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Page 20 of about 213 results

ea0073aep842 | Late Breaking | ECE2021

The first comprehensive study of the clinical response of a cohort of acromegalic patients with somatostatin responsive headache

Sonia Kaniuka-Jakubowska , J Levy Miles , Pal Aparna , Abeyaratne Dayakshi , Drake William , Kyriakakis Nikolaos , D Murray Robert , M Orme Steve , Gohil Shailesh , Brook Antonia , Leese Graham , Márta Korbonits , Wass John

It is known that acromegaly may be associated with headache as a significant co-morbidity. Amongst all acromegaly headache patients, there is a unique group with specific types of severe headache that fail to improve despite acromegaly therapy and are resistant to conventional analgesics, however, immediately respond to subcutaneous short-acting (SA) somatostatin analogue (SSA) treatment. We have surveyed 8 tertiary specialist UK centres and identified 18 patients (6 females) ...
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ea0040lb16 | AIP and the somatostatin signalling in pituitary tumours | ESEBEC2016

L16 – Biography

Prof. Márta Korbonits, MD, PhD, DSc, FRCP, is a clinical academic endocrinologist. She graduated in medicine at Semmelweis Medical School in Budapest and works in the Department of Endocrinology at Barts and the London School of Medicine, where she is Co-Centre Head. She shares her time between clinical patient care, clinical research and laboratory-based research as well as teaching at undergraduate and postgrad...
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ea0066oc2.1 | Oral Communications 2 | BSPED2019

National United Kingdom evidence- and consensus-based guidelines for the investigation, treatment and long-term follow-up of paediatric craniopharyngioma

Gan Hoong-Wei , Morillon Paul , Albanese Assunta , Aquilina Kristian , Barkas Konstantinos , Chandler Chris , Chang Yen-Ch'ng , Daousi Christina , Drimtzias Evangelos , Farndon Sarah , Jacques Tom , Korbonits Marta , Kuczynski Adam , Limond Jennifer , Robinson Louise , Simmons Ian , Thomas Nick , Thomas Sophie , Thorpe Nicola , Vargha-Khadem Faraneh , Warren Daniel , Zebian Bassel , Gamble Ashley , Wilne Sophie , Harrison Barney , Spoudeas Helen , Mallucci Conor

Aims: Although rare, craniopharyngiomas are the commonest suprasellar tumour in childhood. Despite high overall survival, children and young people <19 years with craniopharyngiomas are at risk of multiple relapses and long-term tumour- and treatment-related morbidity. We sought to provide, for the first time, a national standard for best practice based on currently available evidence for the assessment, treatment and follow-up of paediatric craniopharyngiomas under the au...
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ea0049gp160 | Neuroendocrinology &amp; Growth Hormones | ECE2017

Somatic mutations in USP8 are frequent events in pituitary tumors causing Nelson’s syndrome

Perez-Rivas Luis G , Theodoropoulou Marily , Puar Troy H , Fazel Julia , Stieg Mareike R , Ferrau Francesco , Assie Guillaume , Gadelha Monica R , Deutschbein Timo , Fragoso Maria C , Kusters Benno , Korbonits Marta , Bertherat Jerome , Stalla Gunter K , Hermus Ad R , Beuschlein Felix , Reincke Martin

Recent studies have reported a high prevalence of USP8 mutations in corticotroph adenomas causing Cushing’s disease. Nelson’s syndrome is a potentially life-threatening complication of bilateral adrenalectomy in patients with refractory Cushing’s disease that is caused by the development of an ACTH-secreting tumor in the pituitary gland. Whether USP8 alterations are also present in Nelson’s tumors has not been studied in detail so far....
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ea0044oc1.5 | Early Career Oral Communications | SFEBES2016

A missense mutation in the islet-enriched transcription factor MAFA leads to familial insulinomatosis and diabetes

Iacovazzo Donato , Flanagan Sarah E. , Walker Emily , Caswell Richard , Brandle Michael , Johnson Matthew , Wakeling Matthew , Guo Min , Dang Mary N. , Gabrovska Plamena , Niederle Bruno , Christ Emanuel , Jenni Stefan , Sipos Bence , Nieser Maike , Frilling Andrea , Dhatariya Ketan , Chanson Philippe , de Herder Wouter , Konukiewitz Bjorn , Kloppel Gunter , Stein Roland , Ellard Sian , Korbonits Marta

Introduction: Insulinomatosis is a rare disorder characterised by persistent hyperinsulinaemic hypoglycaemia (PHH) due to the occurrence of multifocal pancreatic insulinomas. This condition, whose pathogenesis is unknown, can occur in a familial setting. Paradoxically, while some family members develop PHH, others develop diabetes mellitus.Methods: We have identified a family with autosomal dominant familial insulinomatosis and diabetes. Exome sequencing...
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ea0039ep108 | Pituitary and growth | BSPED2015

Achieving a consensus on managing idiopathic thickening of the pituitary stalk through a national multidisciplinary forum, meeting virtually

Raman Nambisan Aparna Kesavath , Michaelidou Maria , Dimitrakopoulou Eftychia , Ederies Ash , Spoudeas Helen , Clayton Peter , Banerjee Indi , Visser Johannes , Blair Jo , Gevers Evelien , Dattani Mehul , Aquilina Kristian , Pettorini Benedetta , Albanese Assunta , Kamaly Ian , Korbonits Marta , Michalski Antony , Hargrave Darren , Pizer Barry , Chang Yen

Objectives: In 2010 we piloted a national multidisciplinary (MDT), meeting virtually to improve management of rare suprasellar (HPAT) tumours. In 2014 we reported centralised treatment decision-making in craniopharyngioma and now wished to examine whether centre based management of idiopathic thickening of the pituitary stalk (iTPS) differs and can be streamlined by wider debate. This might also inform current commissioned BSPED and CCLG guidance.Methods...
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ea0038p306 | Pituitary | SFEBES2015

Unique clinical picture in patients with X-linked acrogigantism

Iacovazzo Donato , Jose Sian , Bunce Benjamin , Caswell Richard , Hernandez-Ramirez Laura Cristina , Caimari Francisca , Ferrau Francesco , Kapur Sonal , Gabrovska Plamena , Dang Mary N , Rodd Celia , Vance Mary Lee , Ramirez Claudia , Mercado Moises , Goldstone Anthony P , Buchfelder Michael , Burren Christine , Dutta Pinaki , Choong Catherine , Cheetham Timothy , Roncaroli Federico , Ellard Sian , Sampson Julian , Korbonits M

Introduction: Non-syndromic pituitary gigantism can result from AIP mutations and the recently identified Xq26.3 microduplications causing X-LAG.Patients and methods: DNA samples and clinical data were collected from 151 patients with pituitary gigantism. All samples were tested for AIP mutations; AIP mutation negative cases (AIPneg) were screened for Xq26.3 microduplications.Results: Xq26.3 micr...
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ea0038p311 | Pituitary | SFEBES2015

The burden of AIP mutations in pituitary adenoma patients from the UK

Caimari F , Dang M N , Gabrovska P , Hernandez-Ramirez L C , Stals K , Bussell A M , Cranston T , Karavitaki N , Kumar A V , Hunter S , Kearney T , Trainer P J , Izatt I , Bevan J , Quinton R , Grieve J , Baldeweg S E , Grossman A B , Morrison P , Korbonits M

Introduction: Familial isolated pituitary adenoma (FIPA) and young-onset sporadic pituitary adenoma patients are suggested to be screened for mutations in AIP, a gene described in 2006 and amenable to UK testing since 2008.Methods: affected subjects have been tested in Exeter and Oxford genetic laboratories. Data were collected from 120 FIPA-families and 193 sporadic cases with young-onset disease (<30y) from 49 centres in the UK. The Mann&#...
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ea0037oc12.2 | Pituitary – Clinical | ECE2015

The ubiquitin-specific protease 8 gene is frequently mutated in adenomas causing Cushing's disease

Rivas Luis Gustavo Perez , Theodoropoulou Marily , Ferrau Francesco , Nusser Clara , Kawaguchi Kohei , Stratakis Constantine , Faucz Fabio Rueda , Wildemberg Luiz Eduardo , Assie Guillaume , Beschorner Rudi , Stalla Gunther , Buchfelder Michael , Popovic Vera , Honneger Jurgen , Bertherat Jerome , Gadelha Monica R , Beuschlein Felix , Komada Masayuki , Korbonits Marta , Reincke Martin

We have recently reported that somatic mutations in the ubiquitin-specific protease 8 (USP8) are present in corticotropinomas of patients with Cushing’s disease and that these mutations reduced the interaction with 14-3-3. Mutant USP8 exhibited higher deubiquitination activity and potentiated EGFR-induced POMC expression (Reincke et al., Nat Genet 2014). To further study the prevalence of these mutations, we have analyzed 134 ACTH-producing corticotropin...
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ea0056p677 | Paediatric endocrinology | ECE2018

Awareness & participation in rare disease registries within the European reference network on rare endocrine conditions (Endo-ERN)

Ali Salma R , Bryce Jillian , Cools Martine , Korbonits Marta , Beun Johan G , Taruscio Domenica , Beuschlein Felix , Danne Thomas , Dattani Mehul , Dekkers Olaf , Linglart Agnes , Netchine Irene , Nordenstrom Anna , Patocs Attila , Persani Luca , Smyth Arlene , Sumnik Zdenek , Edward Visser W , Hiort Olaf , Pereira Alberto M , Faisal Ahmed S

Background: Registries are of key importance for a centre of expertise. Endo-ERN consists of 71 reference centres (RCs) that cover several groups of rare endocrine conditions within 8 themes (www.endo-ern.eu). It is unclear if awareness, participation and availability of registries is uniform for all conditions within Endo-ERN.Objective: To determine the extent of engagement in registries of Endo-ERN members.Methods: Endo-ERN RC le...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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