Searchable abstracts of presentations at key conferences in endocrinology

ea0013p158 | Diabetes, metabolism and cardiovascular | SFEBES2007

Modification of insulin receptor exon 11 alternative splicing by antisense oligonucleotides

Srirangalingam Umasuthan , Chew Shern L , Khoo Bernard

Introduction: There are two isoforms of the insulin receptor (IR), generated by the alternative splicing of exon 11 to give IR-A (exon 11-) and IR-B (exon 11+) isoforms. The differing distribution and function of the isoforms has been postulated to play a role in the pathogenesis of diabetes mellitus, myotonic dystrophy and thyroid carcinoma. Previous work investigating IR alternative splicing has identified hormonal factors, splicing elements and factors which modulate the re...

ea0013p142 | Diabetes, metabolism and cardiovascular | SFEBES2007

Antisense oligonucleotide-induced alternative splicing of the APOB mRNA generates a novel isoform of APOB

Khoo Bernard , Roca Xavier , Chew Shern L , Krainer Adrian R

Background: Apolipoprotein B (APOB) is an integral part of the LDL, VLDL, IDL, Lp(a) and chylomicron lipoprotein particles. The APOB pre-mRNA consists of 29 constitutively-spliced exons. APOB exists as two natural isoforms: the full-length APOB100 isoform, assembled into LDL, VLDL, IDL and Lp(a) and secreted by the liver in humans; and the C-terminal truncation APOB48, assembled into chylomicrons and secreted by the intestine in humans. Down-regulation of ...

ea0049ep985 | Pituitary - Clinical | ECE2017

Venous glucose levels, peak GH and peak cortisol during Insulin Tolerance Test using 0.15 UNITS/Kg and 0.1 UNITS/Kg body weight

Yeoh Phillip , Grossman Ashley , Chew Shern L , Bouloux Pierre , Khoo Bernad , Carroll Paul , Aylwin Simon , Baldweg Stephanie

Insulin Tolerance Test (ITT) is a procedure commonly done by Endocrine Specialist Nurse in endocrine department. We look at over 120 ITT results done in 2 endocrine centres using Insulin Actrapid 0.15 UNITS/kg and 0.10 UNITS/kg dose plotting the glucose levels at 30, 45 and 60 min. We also look at peak GH and peak cortisol on each of these groups.Aims: We wanted to know how many percentage of patients achieving hypoglycaemia below 0.5 mmol/l, 0.5–1....

ea0025p3 | Bone | SFEBES2011

Evaluation of the association between serotonin and bone mineral density in patients with neuroendocrine tumours

Gupta Piya Sen , Drake William M , Akker Scott A , Chew Shern L , Grossman Ashley B , Druce Maralyn R

Introduction: Bone mineral density (BMD) and fracture tendency are influenced by diet, activity, drugs, and hormones. Recent studies highlight an inverse relationship between serotonin and BMD, of uncertain mechanism.Purpose: We investigated the relationship between serotonin metabolites and BMD in patients with sporadic neuroendocrine tumours (NETs), with and without the carcinoid syndrome.Materials and methods: One-year prospecti...

ea0044p5 | Adrenal and Steroids | SFEBES2016

Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers

Tufton Nicola , Shapiro Lucy , Srirangalingam Umasuthan , Richards Polly , Sahdev Anju , Kumar V K Ajith , Chew Shern L , Drake William M , Storr Helen , Akker Scott A

Introduction: Germline mutations in succinate dehydrogenase subunit B (SDHB) are one of the commonest findings in familial paraganglioma (PGL) syndromes and account for one quarter of PGLs associated with germline mutations. Although the penetrance is low, the malignancy conversion is high; up to 30%. With the increasing availability of genetic testing and the identification of ‘asymptomatic carriers’ of the SDHB gene mutation, it is therefore impor...

ea0016p478 | Neuroendocrinology | ECE2008

Cyclical Cushing's syndrome: prevalence in patients with Cushing's disease

Alexandraki Krystallenia I , Kaltsas Gregory A , Isidori Andrea M , Akker Scott A , Drake William M , Chew Shern L , Monson John P , Besser G Michael , Grossman Ashley B

Background: Cyclical Cushing’s syndrome has been considered to be a rare clinical entity, characterised by periodic increases in cortisol levels followed by regression of the Cushing’s syndrome. The cycles of hypercortisolism may occur before the establishment of the diagnosis, rendering actual diagnosis difficult, or may occur after inadequate or ineffective treatment and affect disease management. The aim of this study was to investigate the prevalence of cyclicity...

ea0021oc2.8 | Neuroendocrine tumours/pituitary | SFEBES2009

Diagnosis and localisation of insulinoma: the value of modern MRI in conjunction with calcium stimulation catheterisation

Muthuppalaniappan Vasantha M , Druce Maralyn R , O'Leary Benjamin , Chew Shern L , Drake William M , Monson John P , Akker Scott A , Besser Michael , Sahdev Anju , Rockall Andrea , Vyas Soumil , Matson Matthew , Berney Daniel , Bhattacharya Satya , Grossman Ashley B

Objective: To review the diagnostic features and localization accuracy of different investigations for insulinomas diagnosed 1990–2009 at a single tertiary referral centre.Design: A cross-sectional, restrospective analysis, including sporadic tumours and those in multiple endocrine neoplasia syndromes.Methods: Case notes and investigation results were reviewed from patients with biochemically or histologically-proven insulinom...

ea0015oc1 | Young Endocrinologist prize session | SFEBES2008

Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B gene mutation carriers

Srirangalingam Umasuthan , Walker Lisa , Khoo Bernard , MacDonald Fiona , Gardner Daphne , Wilkin Terence J , Skelly Robert H , George Emad , Spooner David , Monson John P , Grossman Ashley B , Akker Scott A , Pollard Patrick J , Plowman Nick , Avril Norbert , Berney Dan M , Burrin Jacky M , Reznek Rodney , Ajith Kumar VK , Maher Eamonn R , Chew Shern L

Background: Phaeochromocytomas and paragangliomas are familial in up to 25% of cases and can result from succinate dehydrogenase (SDH) gene mutations.Objective: To describe the clinical manifestations of subjects with SDH-B gene mutations.Design: Retrospective case series.Patients: Thirty-two subjects with SDH-B gene mutations followed-up between 1975 and 2007. Mean follow-up of 5.8 years (S.D....