Endocrine Abstracts

Introduction: PWS children have higher body fat content and lower lean muscle mass as compared to normal population. Bioelectrical impedance analysis (BIA) estimates lean muscle mass and total fat content separately and thus is more useful than BMI. Continued weight gain despite treatment, can be distressing to patients and parents. We hoped to resolve this dilemma through serial body composition measurements.Materials and methods: Patients and families ...

Introduction/Background: Somatostatin analogue injections are a mainstay for the treatment of Neuroendocrine Tumours. Gallstones are a known adverse effect of this treatment. PRRT can bring extra complications for patients having an episode of cholecystitis, biliary colic, cholangitis or pancreatitis.Aims: To examine a cohort of patients undergoing PRRT, looking for the incidence of gallstones and how many patients suffe...

Introduction: The Birmingham Neuroendocrine Tumour (NET) and Carcinoid Heart Disease( CHD) services evolved into a combined and bespoke specialist service in 2018, with the introduction of the enhanced CHD pathway. This involved discussion at the CHD NET MDT , CHD work-up in the inpatient or outpatient setting and a clinical review in the bespoke CHD NET clinic. The CHD NET pathway is now embedded and well-established at our centre. We have a consistent flow o...

Introduction: Sphingosine-1-phosphate lyase (SGPL1) catalyses the final step in sphingolipid metabolism, irreversibly degrading the lipid signalling molecule sphingosine-1-phosphate (S1P). The relative abundance of S1P compared to its precursors sphingosine and ceramide finely tunes signal transduction for a wide range of cellular pathways including proliferation, apoptosis, migration and calcium handling. Loss-of-function mutations in SGPL1 cause a spectrum of disorders, incl...

Familial glucocorticoid deficiency (FGD) is characterised by isolated glucocorticoid deficiency with retention of normal mineralocorticoid production. FGD causing mutations in the MC2R accessory protein, MRAP, often occur at the canonical donor splice-site of intron 3, presumed to result in skipping of the first coding exon with unknown consequences at the protein level. DNA from three patients (0 - 6 months) with high ACTH and/or low cortisol levels underwent whole e...

A 38-year-old lady presented in 2003 with a 2 years history of recurrent pneumonia, with CXR having demonstrated intermittent right lower zone consolidation. CT of chest revealed dense right lower lobe consolidation and a 2.5 cm tumour occluding the right lower lobe orifice was found on bronchoscopy. Strongly positive immunohistochemical staining for chromogranin, NCAM, PGP 9.5 and synaptophysin suggested carcinoid so right lower and middle lobectomy was performed. Histology c...

Introduction/Background: Neuroendocrine Tumour (NET) patients can have specialist and complex needs and this can be exacerbated when they have PRRT. A new role was envisaged that would utilise a NET Clinical Nurse Specialist to work with both Nuclear Medicine and the NET team for delivering PRRT.Aims: As part of the wider NET team the aim for the new CNS was to embed outpatient PRRT delivery, increase capacity and delive...

We have previously reported that exercise at high altitude (HA) led to a significant increase in brain natriuretic peptide (BNP) levels. In contrast two other publications have reported no change in resting BNP at HA. We therefore measured BNP and Lake Louise (LL) Acute Mountain Sickness (AMS) scores in a further 20 subjects at rest in Kathmandu (Kat; 1300 m); and following exercise and at rest at 4270 m and 5150 m. Compared with the baseline BNP level at Kat (9.2+/−2 pg...

High altitude exposure leads to a marked natriuresis and diuresis facilitated by a reduced resting and subdued post-exercise aldosterone. There is a strong correlation between aldosterone and cortisol at high altitude and although most, but not all, investigators report a rise in cortisol with ascent very little data exist regarding the post-exercise response in cortisol. We therefore measured salivary cortisol in a cohort of 45 subjects post-exercise and 20 subjects at rest w...

The progression of thyroid cancer is dependent on cell motility, a highly complex process that involves the co-ordination of multiple signalling pathways, cell adhesion, and actin dynamics. The proto-oncogene pituitary tumor-transforming gene (PTTG)-binding factor (PBF/PTTG1IP) potently stimulates thyroid cancer cell migration and invasion via PBF phosphorylation by Src kinase at residue Y174. Recent phosphoproteomic and RNA-Seq analyses revealed that upregulation of PBF in Nt...