Endocrine Abstracts

Wolfram syndrome is an autosomal recessive disorder characterised by neurodegeneration and diabetes mellitus. The gene responsible for the syndrome (WFS1) encodes an endoplasmic reticulum (ER) resident transmembrane protein, that also localises to secretory granules in pancreatic β cells. Although its precise functions are unknown, WFS1 protein deficiency affects the unfolded protein response, intracellular ion homeostasis, cell cycle progression, and granular acidificati...

Introduction: NICE recommends annual screening for diabetic retinopathy in children with type 1 diabetes aged over 12 years and/or with duration of diabetes over 5 years. This audit aimed to evaluate patient attendance for retinopathy screening, to identify the prevalence of retinopathy and maculopathy and to ascertain characteristics of patients.Methods: This was a retrospective audit of patients attending for eye screening from January 2008 to April 20...

Aims: To compare glycaemic control and weight gain in children with type 1 diabetes changing from twice daily premixed insulin to multiple daily injections (MDI) with either insulin glargine or insulin detemir.Methods: A retrospective study of 41 consecutive children and adolescents with type 1 diabetes, changed to MDI between January 2005 and April 2007, with outcome measures of HbA1C change and body mass index SDS (BMI-SDS) change after 12 months of MD...

Thyroid hormones play vital roles in fetal brain development. Mutations in MCT8, recently recognised as a specific thyroid hormone transporter, define a novel syndrome of severe X-linked psychomotor retardation and thyroid hormone resistance.N-TERA-2 (NT2) cells (human embryonal cells with characteristics of CNS precursors) were transiently transfected with either WT MCT8 or its L471P, R271H or S448X mutations, described in males affected by severe psych...

To explore the correlation structure of individual components of the Metabolic Syndrome and identify combinations of correlated variables we used principal component analysis (PCA) in a multiethnic group of women with a history of GDM (pGDM) (185 European, 103 South Asian, 80 African–Caribbean), recruited at 20.0 (18.2–22.1) months (geometric mean (95% CI)) after pregnancy and 482 control women of similar ethnicities. BMI, W:H ratio, systolic and diastolic BP, f. glu...

Thyroid hormones play a major role in the metabolic function of mammalian cells and are of particular importance in the development of the fetal brain. The MCT8 gene has recently been shown to encode an active and specific thyroid hormone transporter. Recent reports have identified mutations in the MCT8 gene in several unrelated boys presenting with severe X-linked psychomotor retardation and elevated serum T3.Ontogeny of mRNA encoding MCT8 was examined ...

Sixty-six patients with type 2 diabetes, obesity and no known history of cardiovascular disease were recruited to a lifestyle-intervention study. The aims of this study were to quantify the presence of silent and symptomatic ischaemia using a Bruce protocol treadmill-test, and to identify factors associated with a positive stress-test in these patients. Ethical approval was obtained from the local ethics committee.54/66 patients had blood pressure (BP) g...

We investigated the relationship between gestational diabetes (GDM) and the metabolic syndrome in 368 (185 European (EUR), 103 South Asian (SA) and 80 Afro-Caribbean (AC)) women studied 20.0 (18.2-22.1) months (mean (95% CI)) following a GDM pregnancy and 482 normoglycaemic women (288 EUR, 99 SA, 95 AC) with no history of GDM. Estimates of beta-cell function (%B) and insulin sensitivity (%S) were derived using the HOMA method. Analysis was by multiple linear regression includi...

Introduction: Good patient education is the key to successful self-management of diabetes. In October 2013, we introduced a revised and extended ‘Newly Diagnosed Patient Education Programme’ involving 20 structured education sessions delivered by the multidisciplinary team.Aim: To assess the effect of the new patient education programme on HbA1c at the end of two years and compare this to a control group undergoing the old education programme.<...

Background: Type 2 diabetes (T2D) in children and adults continues to rise. The relative contribution of pancreatic beta cell failure is not established. We aimed to analyse beta cell function in a subgroup of the UK T2D (JUMP) cohort.Methods: Participants were recruited at 58 hospital centres across England and Wales (n=204). Patients were 5–18 years, diagnosed with T2D (ADA criteria) and a BMI SDS>+1.0. At baseline, demographics, clin...