Searchable abstracts of presentations at key conferences in endocrinology

ea0025p200 | Endocrine tumours and neoplasia | SFEBES2011

An atypical presentation of primary hyperparathyroidism

Feeney Claire , Hadjiminas Dimitri , Dhawan Ranju , Cox Jeremy

A 62-year-old man was referred from secondary care with a long history of recurrent ureteric colic, borderline hypercalcaemia with parathyroid hormone level in the low-normal range and a normal serum phosphate. There was no family history of kidney stones or osteoporosis and no history of childhood urinary infections.Repeated biochemistry at presentation was as follows: PTH 2.1 pmol/l (1.1–6.8), corrected calcium 2.56 mmol/l (2.15–2.55), phosph...

ea0091wf3 | Workshop F: Disorders of the parathyroid glands, calcium metabolism and bone | SFEEU2023

Differentiating Primary Hyperparathyroidism from Familial Hypocalciuric Hypercalcaemia Can Be Difficult: A Misleading Urinary Calcium to Creatinine Clearance Ratio

G Mills Edouard , J Hadjiminas Dimitri , Abbara Ali , Behary Preeshila , Cox Jeremy , N Comninos Alexander

Case: We report a 79-year-old female who was referred to our Endocrine Bone Unit with osteoporosis, which was initially treated with Alendronate (but poorly tolerated due to dyspepsia) followed by annual Zoledronate infusions. Her bone history was significant for a proximal humeral fragility fracture 30-years previously. She was an ex-smoker, had limited dietary calcium intake, and had a brother with osteoporosis. DEXA demonstrated T scores at lumbar spine -1.8, total hip -2.0...

ea0028p80 | Clinical practice/governance and case reports | SFEBES2012

Renal calculi as a presenting feature in a patient with familial hypocalciuric hypercalcaemia (FHH).

Reddy Monika , Tanday Raj , Feeney Claire , Darko Daniel , Hadjiminas Dimitri , Cox Jeremy

A 46-year-old Columbian man, with a previous history of pulmonary sarcoid and renal calculi in 2001, was referred to the Endocrinology clinic in 2005 with persistent hypercalcaemia despite successful treatment of the sarcoid. The initial hypercalcaemia work-up results were as follows: adjusted calcium 2.96 (2.15–2.60), parathyroid hormone (PTH) 9.0 pmol/l (1.1–6.8), 25-(OH)2 vitamin D 71 nmol/l (>50), magnesium 0.99mmol/l (0.65–1.00), creatinine 97 umol/l...

ea0054is13 | (1) | NuclearReceptors2018

Enhancers mapping uncovers phenotypic heterogeneity and evolution in patients with luminal breast cancer

Patten Darren K , Corleone Giacomo , Győrffy Balazs , Erdős Edina , Saiakhova Alina , Goddard Kate , Vingiani Andrea , Shousha Sami , Pongor Lőrinc Sandor , Hadjiminas Dimitri J , Schiavon Gaia , Barry Peter , Palmieri Carlo , Coombes Raul C , Scacheri Peter , Pruneri Giancarlo , Magnani Luca

The degree of intrinsic and interpatient phenotypic heterogeneity and its role in tumour evolution is poorly understood. Phenotypic divergence can be achieved via the inheritance of alternative transcriptional programs. Cell-type specific transcription is maintained through the activation of epigenetically-defined regulatory regions including promoters and enhancers. In this work, we annotated the epigenome of 47 primary and metastatic oestrogen-receptor (ERα)-positive br...