Endocrine Abstracts

Pituitary neuroendocrine tumours (PitNETs) are heterogeneous and have limited biomarkers to predict their behaviour, thus making their prognostication difficult. Ki-67 is a protein expressed in active phases of the cell cycle and is one of the biomarkers utilized in routine assessment of PitNET tissue. Current European Society of Endocrinology recommendations advise that histopathological analysis of PitNETs should as a minimum include Ki-67 proliferation index and anterior pi...

Background: Botulinum neurotoxin inhibits muscle function by interfering with neurotransmitter release from secretory vesicles. The mechanism underlying this effect involves cleavage of SNARE proteins which are required for vesicle docking at the plasma membrane. The ability of botulinum neurotoxin serotypes to cleave SNARE proteins and inhibit secretion is being exploited for therapeutic purposes by Syntaxin Ltd with their ‘targeted secretion inhibitor technology’ (...

Mutations in the co-chaperone molecule AIP account for a predisposition to pituitary tumours in some families with familial isolated pituitary adenomas (FIPA). We now report on four apparently-unrelated families with the same mutation and originating from the same geographical area, suggesting a possible founder mutation.The index patient had gigantism (19 years, 208 cm) and had a female 4th cousin, once removed (13 years, 191 cm) with a large pituitary ...

We have previously shown that the orexigenic and peripheral adipogenic effects of ghrelin are mediated by its effect on the metabolic enzyme AMPK. As the cannabinoid (CB1)-antagonist rimonabant inhibits the orexigenic effect of ghrelin, we suggest that there is an interaction between cannabinoids and ghrelin.To study the involvement of CB1 in the effects of ghrelin, wild-type (WT) and CB1-knockout mice were treated with ghrelin and rimonabant.<p clas...

Medullary thyroid carcinoma (MTC) is a rare malignancy which has often metastasised at time of diagnosis. Surgical resection represents the only prospect for cure. However, debulking neck surgery may be beneficial in advanced cases. Prophylactic surgery is increasingly undertaken in asymptomatic patients with known mutations in the RET oncogene. The aim was to describe the outcome following initial surgical treatment for MTC at our institution. We performed a retrospe...

In Northern Ireland, the sole tertiary referral centre for pituitary disease which includes neurosurgery and endocrinology for ~1.9 million people, is based in the Royal Victoria Hospital, Belfast. A retrospective study has been commenced to examine clinical, biochemical, histopathological and radiological data for all patients operated on across an approximately 20 year period in Northern Ireland. Ethical approval was obtained from the Northern Ireland Biobank (study num...

Background: No predictive biomarkers have been identified for clinically nonfunctioning pituitary tumour (NFPT) recurrence, with Ki67 being controversial. We employed quantitative mass spectrometry-based analyses to examine the differential expression of proteins in NFPTs.Methods: NFPTs were sub-grouped: non-invasive/non-recurrent group (NI/NR-G, n=5), invasive group (I-G, n=10) and recurrent group (R-G, n=5). Invasiveness was ...

Background: The cyclic GMP-AMP synthase stimulator of interferon genes (cGAS-STING) signalling pathway is an element of the innate immune response and is activated by the presence of DNA in the cytosol. Triggering of this immune response may occur in the setting of infection or neoplasia. Activation of this pathway results in phosphorylation of interferon regulatory factor 3 and downstream transcription of cytokines such as interferon β and interleukin-6. Polyinosinic:pol...

Introduction: Pachydermoperiostosis (primary hypertrophic osteoarthropathy, PHOA) is a rare genetic condition characterised by digital clubbing, pachydermia, hyperhidrosis, cutis verticis gyrata and periostosis. The SLCO2A1 transporter and HPGD enzyme genes play an important role in prostaglandin metabolism, hence loss of function mutations in them causes PHOA. To date, according to the VarSome database 101 and 41 variants have been identified in the SLCO...

Context: Serum IGF-binding protein-3 (IGFBP-3) and molar IGF-I to IGFBP-3 ratio can aid the diagnosis of GH-related diseases. However, their clinical utility is limited by lack of validated reference intervals.Objectives: To establish age-, gender- and Tanner stage-specific reference intervals for IGFBP-3 and IGF-I to IGFBP-3 ratio for Indian ethnicity.Setting and Participants: We conducted a cross-sectional epidemiological study (...