Searchable abstracts of presentations at key conferences in endocrinology

ea0038sk2.5 | Skills 2: Early Career Symposium: Effective communication: get involved, get engaged! | SFEBES2015

Making social media work for promoting and recruiting to research studies

Parker Victoria

Recruitment to research studies to meet sample quality, size, and power requirements may be challenging, with underrepresentation of specific gender, age or ethnic groups being a common source of bias within research. Social media are defined as web-based applications that enable creation and exchange of user generated content. Facebook, one of the most renowned social networking interfaces currently has 1.44 billion users worldwide, and cross-sectional studies of user demogra...

ea0031p151 | Neoplasia, cancer and late effects | SFEBES2013

Phenotype–genotype analysis in a cohort of patients with multiple endocrine neoplasia type 1 identifies a novel nonsense mutation at codon 554

Reddy Snigdha , Goudie Calum , Parker Victoria , Park Soo-Mi , Treacy Becky , Simpson Helen

Aims: MEN1 is characterised by parathyroid, pituitary and pancreatic tumours in association with neoplasia of intra-thoracic endocrine tissue, adrenal glands and cutaneous manifestations. Mutations of the tumour suppressor Menin are causative and affected patients possess heterozygous germline mutations in MEN1, with acquisition of a second hit in the wild-type allele initiating tumourigenesis. Phenotype–genotype correlations can provide insights into the molecular functi...

ea0021p399 | Thyroid | SFEBES2009

Iopanoic acid: a bridge to surgery when all else fails in complicated hyperthyroidism

Parker Victoria , Green Alistair , Jani Piyush , Halsall David , Chatterjee Krishna , Simpson Helen

We report five cases of hyperthyroidism with complex management issues, which were successfully treated with iopanoic acid prior to thyroidectomy.Three patients (cases 1–3) had Graves’ disease; two developed agranulocytosis on carbimazole and one had uncontrolled severe thyrotoxicosis and poor compliance with treatment. Radioiodine was either declined or contraindicated due to radio-protection issues. All patients were rendered euthyroid with i...

ea0034oc6.3 | Clinical | SFEBES2014

Sirolimus therapy for a patient with segmental overgrowth due to a mosaic activating mutation in phosphatidylinositol-3-kinase

Parker Victoria , Huson Susan , Isaac Iona , Harris Julie , Payne Felicity , Lindhurst Marjorie , Barroso Ines , Biesecker Leslie , Semple Robert

Background: Phosphatidylinositol-3-kinase (PI3K) is a critical mediator of insulin action, and influences cellular growth, survival and metabolism. Recently, somatic gain-of-function mutations in the p110α catalytic subunit of PI3K (PIK3CA) have been found in a spectrum of overgrowth disorders, outlining the possibility of treatment with inhibitors of the PI3K–AKT–mTOR pathway.Methods/Results: A 37-year-old female, presented with life-long...

ea0034p235 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2014

Novel syndromes of hypoinsulinaemic, hypoketotic hypoglycaemia

Leiter Sarah , Minic Marina , Parker Victoria , Harris Julie , Hamilton-Shield Julian , Williams Rachel , Korsch Eckhard , Hussain Khalid , Semple Robert

Congenital hyperinsulinaemic hypoglycaemia is generally characterised by low levels of ketone bodies, fatty acids and branched chain amino acids at the time of severe hypoglycaemia, and by a requirement for a relatively high rate of glucose infusion (>10 mg/kg per min) to maintain euglycaemia. It is caused by physiologically inappropriate insulin secretion from the pancreatic beta cells due to mutations that uncouple insulin secretion from normal hyperglycaemic and other s...

ea0031p146 | Growth and development | SFEBES2013

Pre-clinical investigation of therapy for segmental overgrowth caused by constitutive activation of phosphoinositide-3 kinas: lessons for cancer therapy

Parker Victoria , Groeneveld Matthijis , Zhang Qifeng , Rudge Simon , Lindhurst Marjorie , Huson Susan , O'Rahilly Steven , Biesecker Leslie , Barroso Ines , Wakelam Michael , Semple Robert

Introduction: We recently reported cases of segmental overgrowth due to mosaic heterozygous activating mutations in the p110α catalytic subunit of PI3K. The index case presented with life-long, massive overgrowth of both legs with a lean upper body. Mobility was threatened by continued growth. mTORC1 inhibition has been effective at slowing excess growth due to loss of PTEN function, a negative regulator of PI3K. We hypothesised that mTORC1 inhibition would also be effect...

ea0031p165 | Neoplasia, cancer and late effects | SFEBES2013

Audit of patients with multiple endocrine neoplasia type 1 in a tertiary referral centre

Goudie Calum , Reddy Snigdha , Parker Victoria , Curran Suzanne , Corrie Pippa , Shaw Ashley , Jamieson Neville , Praseedom Raaj , Huget Emmanuel , Jah Asif , Carroll Nicolas , Buscombe John , Park Soo-Mi , Simpson Helen

Aim: To review the presentation, management and outcomes in adult patients with MEN1 attending a multidisciplinary clinic.Methods: Case notes and electronic records were reviewed in patients attending a tertiary centre clinic for care of MEN1.Results: Forty-eight patients were analysed; 46% were male and 54% female. Mean age was 49 years (range 14–89) and 4% were deceased. Eighty-five percent had confirmed MEN1 mutations and 2...