Searchable abstracts of presentations at key conferences in endocrinology

ea0019p6 | Bone | SFEBES2009

A Ser1386Pro mutation in the C-propeptide domain of Col2a1 results in spondyloepiphyseal dysplasia congenita in mice

Esapa C , Hough T , Testori S , Head R , Crane E , Chan C , McNally E , Carr A , Brown M , Croucher P , Nesbit M , Brown S , Cox R , Cheeseman M , Thakker R

We are investigating mice treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) to establish models for hereditary bone disorders such as osteoporosis, osteoarthritis and skeletal dysplasias. We report on one such mouse model designated Longpockets (Lpk). Mice were kept in accordance with national welfare guidelines and project license restrictions. Lpk/+ mice are viable and fertile, present with short humeri by two weeks of birth and have a...

ea0003oc1 | Genetics: New Insights into Endocrine Disease | BES2002

All in the family: Site and gender specificity of the genetic control of bone mineral density

Duncan E , Cardon L , Wass J , Brown M

Bone mineral density (BMD) is a highly heritable trait. We sought to investigate site and gender specificity of BMD inheritance in general pedigrees.Probands with primary osteoporosis and low BMD relative to an age- and sex- matched cohort (z-score <-2.0 at either lumbar spine (LS) or femoral neck (FN)) were identified from the Nuffield Orthopaedic Centre (Oxford UK) (45 male, 102 female). All available first- and second-degree relatives were recrui...

ea0003p53 | Clinical Case Reports | BES2002

Severe thyroid eye disease associated with stable primary hypothyroidism

Prakash P , Biswas M , Brown A , Raghuram A , Hanna F

Thyroid eye disease usually occurs in patients with graves'hyperthyroidism although 5-10% of patients are euthyroid or are hypothyroid with positve TSH receptor binding antibodies. We describe a patient with primary hypothyroidism for 14 years prior to the onset of severe thyroid eye disease.A 61 year old lady with thyroid opthalmopathy was seen in the eye clinic.Previous history included diet controlled diabetes and primary hypothyroidism, adequately r...

ea0024oc1.6 | Oral Communications 1 | BSPED2010

Altered Metabolomic Profile in Children Born Small for Gestational Age without Post-Natal Catch-up Growth

Butcher I , Murray P , Brown M , Dunn W , Westwood M , Clayton PE

Background: Approximately 1000 children per annum born small for gestational age (SGA) will fail to catch-up and become eligible for GH treatment. The reason for this failed growth is often not defined. Understanding mechanisms that cause growth failure in SGA and finding potential biomarkers of poor growth is therefore important. We are using the new technique of Metabolomics as one avenue to address this. Metabolomics is the quantification of small molecule metabolites in a ...

ea0009p27 | Diabetes and metabolism | BES2005

Maternal consumption of a high-meat, low carbohydrate diet during pregnancy impairs glucose tolerance in the adult offspring

Reynolds R , Godfrey K , Haselden S , Sheill A , Barker D , Campbell-Brown M , Phillips D

There is evidence that an unbalanced maternal diet, combining a high ratio of protein to carbohydrate with low intakes of folate and green vegetables imposes a metabolic stress on the mother and fetus leading to fetal growth retardation. Because recent studies have shown that high protein maternal diets are associated with raised offspring blood pressure, we have assessed whether this form of unbalanced maternal nutrition is also associated with glucose intolerance.<p clas...

ea0011p594 | Neuroendocrinology and behaviour | ECE2006

Maternal consumption of a high-meat, low carbohydrate diet in late pregnancy and stress responsiveness in the offspring

Reynolds RM , Simonsen H , Pearson S , Barker ME , Barker DJP , Campbell-Brown M , Godfrey KM , Phillips DIW

Background: Consumption of a high-meat, low carbohydrate diet in late pregnancy is associated with fetal growth restriction, and raised blood pressure and glucose intolerance in the offspring. In a recent study in Motherwell, Scotland, where pregnant women had been advised to eat one pound (0.45 kg) of red meat per day during pregnancy and to avoid carbohydrate-rich foods, we found elevated fasting plasma cortisol levels in men and women whose mothers reported higher protein c...

ea0019oc31 | Bone and Calcium | SFEBES2009

A mouse with a Trp589Arg mutation in N-acetylgalactosaminyltransferase 3 (Galnt3) provides a model for familial tumoural calcinosis

Esapa C , Head R , Chan C , Crane E , Cheeseman M , Hough T , McNally E , Carr A , Thomas G , Brown M , Croucher P , Brown S , Cox R , Thakker R

Investigations of bone disorders which are often inherited have yielded important insights in the molecular mechanisms of bone development, osteoporosis and osteoarthritis. However, these studies have been hampered by the lack of available patients and affected families. To overcome this limitation, we have investigated mice treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) for hereditary bone disorders. Mice were kept in accordance with national welf...

ea0011p379 | Diabetes, metabolism and cardiovascular | ECE2006

Chromosome 1p shows significant linkage to steroid metabolism in hypertension in the British Genetics of Hypertension Study

Padmanabhan S , Fraser R , Ingram M , Davies E , Munroe PB , Dobson R , Brown M , Samani N , Clayton D , Farrall M , Webster J , Lathop M , Caulfield M , Dominczak AF , Connell JM

Background: Glucorticoids can affect blood pressure in humans, as demonstrated most strikingly in CushingÂ’s syndrome. We have previously reported that total cortisol metabolite excretion is raised in obese subjects, while other investigations have identified genetically determined changes in glucocorticoid receptor function as contributors to hypertension. Furthermore, in essential hypertension, vasoconstrictor sensitivity to glucocorticoids is increased. Such raised sens...