Searchable abstracts of presentations at key conferences in endocrinology

ea0070aep950 | Thyroid | ECE2020

Is Poorly diffentiated thyroid cancer a bridge between well differentiated and anaplastic cancer – Genomic perspective

Bhargav Panchangam Ramakanth , Bangaraiahgari Ramesh , Bangaraiahgari Rajesh , Md Rafi , Reddy B Rajkiran , Mayilvaganan Sabaretnam , G Rakshith , Akshaya Ramesh Devanapalli Lakshmi , Vemula Akhila , Shetty M Shiran , T Shreshta , P Sweeya

Introduction: Poorly differentiated thyroid cancer (PDC) is a relatively rare form of differentiated thyroid caner with intermediate prognosis between well differentiated (WDTC) and anaplastic cancers (ATC). But, this finding is debatable in literature. Genomics is the one of definitive modalities to resolve this conundrum. ATC tends to express P53 and KMT2D mutations frequently, while WDTC have no such mutations. Similar studies are scanty in PDC. In this context, we set out ...

ea0081p192 | Reproductive and Developmental Endocrinology | ECE2022

Simulation via instant messaging − birmingham advance (SIMBA) as a tool to bridge gaps in clinical knowledge and expectations between physicians and patients with polycystic ovary syndrome

Sakthivel Pavithra , Melson Eka , Rezai Fatema , Synn Cuen Pan Carina , Sheikh Jameela , Kaur Harjeet , Cooper Catherine , Abdelhameed Farah , Pang Francesca , Bhatt Shreya , Shabbir Dania , Davitadze Meri , Gleeson Helena , Manolopoulos Konstantinos , Chu Justin , O' Reilly Michael , Arlt Wiebke , Gillett Caroline , Kempegowda Punith , Team Simba

Introduction: Polycystic Ovary Syndrome (PCOS) is the most common endocrinopathy in women. Studies exploring the experiences of people with PCOS reveal inadequate patient access to information and limited insight into healthcare professionals’ (HCP) attitudes regarding the condition. Simulation via Instant Messaging-Birmingham Advance (SIMBA) is a virtual simulation platform proven to increase learners’ confidence in their approach to simulated cases with a high acce...

ea0034oc1.6 | Young Endocrinologists prize session | SFEBES2014

A loss-of-function mutation in the prolactin receptor causes familial hyperprolactinaemia

Gorvin Caroline , Newey Paul , Cleland Stephen , Willberg Christian , Bridge Marcus , Azharuddin Mohammed , Drummond Russell , van der Merwe Anton , Klenerman Paul , Bountra Chas , Thakker Rajesh

The prolactin receptor (PRLR) is a member of the class I cytokine receptor family that signals predominantly through the JAK2–STAT5 pathway. To date, PRLR mutations have not been established to be associated with any disorders. Here, we report a PRLR mutation (His188Arg) that caused familial hyperprolactinaemia in three sisters, two of whom presented with oligomenorrhea and one with infertility. The hyperprolactinaemia was not associated with pituitary tumours, which were...

ea0081p77 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022

Comparison of hyperphagia and problem behaviors in participants with prader-willi syndrome (PWS) receiving diazoxide choline extended-release (DCCR) with matched participants in PATH for PWS (PfPWS)

Gevers Evelien , Strong Theresa , Miller Jennifer , Felner Eric , Goldstone Tony , Bridges Nicola , Yanovski Jack , Bird Lynne , Butler Merlin , Obrynba Kathryn , Lah Melissa , Shoemaker Ashley , Mejia-Corletto Jorge , Stevenson David , Wilding John , Kimonis Virginia , Abuzzahab Jennifer , Konczal Laura , Mathew Verghese , Cowen Neil , Woloschak Michael , Bhatnagar Anish

Background: PWS is a rare neurodevelopmental genetic disorder characterized by hyperphagia, obesity, hormonal deficiencies, and problem behaviors for which there are no approved treatment. DCCR administration (100-525 mg/day) up to 52 weeks in participants with PWS improved hyperphagia, behavior, body composition and metabolic markers.Objective: The objective of this study was to compare changes in hyperphagia (using Hyperphagia Questionnaire for Clinica...

ea0081ep360 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022

Long-term safety of diazoxide choline extended-release (DCCR) tablets in patients with prader-willi syndrome

Gevers Evelien , Miller Jennifer , Butler Merlin , Bridges Nicola , Goldstone Tony , Obrynba Kathryn , Salehi Parisa , Felner Eric , Bird Lynne , Shoemaker Ashley , Konczal Laura , Lah Melissa , Yanovski Jack , Angulo Moris , Mejia-Corletto Jorge , Stevenson David , Wilding John , Abuzzahab Jennifer , Shaikh Guftar , Viskochil David , Mathew Verghese , Yen Kristen , Woloschak Michael , Bhatnagar Anish

Background: Prader-Willi syndrome (PWS), a rare genetic neurobehavioral-metabolic condition, is characterized by hyperphagia, accumulation of excess fat, hypotonia, and behavioral/psychological complications. There are no currently approved medications to treat hyperphagia in patients with PWS; DCCR is under development as a treatment for PWS.Objectives and Methods: The objective was to evaluate long-term safety of DCCR in individuals with PWS. 125 parti...

ea0005s51 | Alternative Careers for Endocrine Researchers | BES2003

Sales opportunities in biotech firms

Jackson S

With the changes in laboratory techniques affecting many disciplines, this is a short introduction to the variety of sales-based careers available in the UK biotechnology sector. The talk incorporates different companies, changing market trends and products and my own 'out of laboratory' experience of working in the biotech commercial world. Currently I work for Silicon Genetics, an American company with a small European operation based in the UK. I am their UK Regional Sales ...

ea0065p170 | Metabolism and Obesity | SFEBES2019

Chronic disruption of endothelial Insulin/IGF1 signaling pathway enhances whole body insulin sensitivity

Viswambharan Hema , Yuldasheva Nadira , Imrie Helen , Cubbon Richard , Bridge Katherine , Haywood Natalie , Skromna Anna , Porter Karen , Hemmings Karen , Clark Emily , Gatenby Victoria , Abudushalamu Yilizila , Cordell Paul , Simmons Katie , Makava Natallia , Walker Andrew , Futers Simon , Shah Ajay , Beech David , Wheatcroft Stephen , Kearney Mark , Sukumar Piruthivi

Type 2 diabetes is preceded by insulin resistance, followed by increased endothelial cell production of superoxide and reduction in bioavailability of the vasoprotective signalling molecule, nitric oxide (NO). We demonstrated in preclinical models that type 2 diabetes also causes resistance to insulin-like growth factor-1 (IGF-1) mediated glucose lowering and endothelial NO release. This study aimed to examine the effect of the endothelial cell-specific combination of insulin ...

ea0017p21 | (1) | BSPED2008

Premature sexual maturation: incidence and aetiology

Stanley S , Stone E , Kirk J

Over the last few years, we have seen increasing numbers of referrals to our regional paediatric endocrine unit with premature sexual maturation (PSM), especially adrenarche and isolated thelarche. Therefore, we audited referrals for PSM over three years, and compared them to published historical data collected over 15 years in another regional paediatric endocrine unit (Bridges et al. 1994).<thead valig...

ea0056pl4 | The Retina as a Window for Exploring the Brain in Diabetes | ECE2018

The Retina as a Window for Exploring the Brain in Diabetes

Simo Rafael

Evidence is accumulating that type 2 diabetes (T2D) is associated with cognitive impairment and dementia. In fact, numerous epidemiological studies have demonstrated that T2D patients have a significantly higher risk of developing neurodegenerative diseases and, in particular, Alzheimer’s disease (AD). In clinical practice there are no reported phenotypic indicators or specific examinations to identify T2D patients at risk of developing AD. This gap should be urgently bri...