Searchable abstracts of presentations at key conferences in endocrinology

ea0025s5.1 | The novel role of primary cilia in endocrine disease and obesity | SFEBES2011

Making sense: primary cilia in disease and development

Beales Philip

Ubiquitous in nature, cilia and flagella comprise near identical structures with similar functions. The most obvious example of the latter is motility; driving movement of the organism or particle flow across the epithelial surface in fixed structures. In vertebrates, such motile cilia are evident in the respiratory epithelia, ependyma and oviducts. For over a century, non-motile cilia have been observed on the surface of most vertebrate cells but until recently their function...

ea0031p209 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2013

The endocrine and metabolic characteristics of a large Bardet–Biedl syndrome clinic population

Mujahid Safa , Huda Mohammed , Forsythe Elizabeth , Hazlehurst Jonathan , Tomlinson Jeremy , Beales Philip , Carroll Paul , McGowan Barbara

Background: Bardet Biedl syndrome (BBS) is a rare autosomal recessive disorder caused by ciliary dysfunction. It is characterised by rod cone dystrophy, polydactyly, renal dysfunction, cognitive impairment. Endocrine consequences are thought to include hypogonadism, obesity and polyuria. However little is known about the endocrine and metabolic abnormalities in adult patients.Methods: One hundred and fifty-four patients with BBS were identified through t...