Endocrine Abstracts

Metastatic bone lesion is a common syndrome of many cancer diseases in an advanced state. The major symptom is severe pain, spinal cord compression and pathological fracture, associated with an obvious morbidity. Common treatments including systemic application of bisphosphonate drugs aim on pain reduction and on improving the quality of life of the patient. Particularly patients with multiple metastatic lesions benefit from bone-targeting therapeutic radiopharmaceuticals....

Context: There is growing evidence that cannabinoid receptor-1 (CB-1) blockade reduces inflammation and neovascularization by decreasing vascular endothelial growth factor (VEGF) levels associated with a reduction in inflammatory markers, thereby potentially reducing cardiovascular risk.Objective: To determine the impact of CB1 antagonism by rimonabant on VEGF and inflammatory markers in obese PCOS women.Design: Randomised, open-la...

Hashimoto’s encephalopathy (HE) is a very rare neuropsychiatric condition associated with autoimmune thyroid disorders which shows a remarkable response to steroid therapy and hence is also called steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT). We report a case of 44 year old lady presenting twice with psycho-affective symptoms but not receiving the diagnosis on first presentation. She initially presented with 3 wee...

Background: We planned this prospective cohort study in term newborn babies, with the objective to determine the incidence of vitamin D deficiency in infancy and to determine the level of vitamin D which triggers the physiological PTH axis of the body so as to differentiate truly deficient from sufficient vitamin D status.Methods: 96 participants at birth were enrolled and followed up till 9 months of age. Serum 25OHD was estimated in cord blood at birth...

Mutations affecting the mitochondrial enzyme succinate dehydrogenase (SDH) are associated with a wide spectrum of tumours. SDH deficient tumours have a unique tumour metabolome due to the interruption of the citric acid cycle and accumulation of the ‘oncometabolite’ succinate, which drives tumourigenesis. Investigating the tumour metabolome of SDH deficient tumours has potential translational application. MRI spectroscopy (1H-MRS) was used for in vivo<...

Background: Timing of puberty is associated with height, cardiovascular health and cancer risk, with a significant public health impact. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined. Self-limited delayed puberty (DP) segregates in an autosomal dominant pattern, but the underlying genetic background is unknown.Methods: We performed whole exome sequencing in 111 members of 18 families fro...

A 19-year-old Cushingoid lady was referred with significant hirsutism requiring daily facial shaving despite previous laser epilation and regular waxing. She had a background history of PCOS, polycythaemia, hypertension and had been labelled as having a ‘Cushingoid appearance’. Extensive investigations elsewhere (UFCs, MR pituitary, and CT adrenals) had failed to diagnose the syndrome. She was taking metformin to regulate menses and lercanidipine and bisprolol. Spiro...

Introduction: Primary, non-motile, cilia are microtubule-based organelles that protrude from the cell membrane into the extracellular environment of virtually all nucleated mammalian cells. They function as signalling platforms involved in the transduction of extracellular stimuli and have an important role in cell cycle regulation. Disruption of primary cilia structure and therefore function has been identified in a range of cancers including kidney, breast, pancreatic and pr...

Men have a higher prevalence and risk of non-alcoholic fatty liver disease (NAFLD) than age-matched women and this may, in part, be related to differences in fatty acid oxidation. Fasting and postprandial fatty acid oxidation was investigated in 11 healthy men and 11 healthy women matched for age (46±2 years vs 46±2 years (mean±S.E.M.)), BMI (28.0±1 vs 27.0±1 kg/m2) and liver fat content (3.4±0.9 vs 3.9±0.7%) measure...

Hepatic steatosis, accumulation of intracellular triglyceride (TG) (>5% of hepatic tissue), is the prerequisite for the development of non-alcoholic fatty liver disease (NAFLD). NAFLD represents a spectrum of liver diseases and is associated with obesity and obesity-related metabolic diseases such as type 2 diabetes and cardiovascular disease. Steatosis occurs due to an imbalance between fatty acid input and removal (fatty acid partitioning) which can be affected by geneti...