Searchable abstracts of presentations at key conferences in endocrinology

ea0033cme1 | CME TRAINING DAY | BSPED2013

Bone physiology or calcium and phosphate metabolism

Allgrove J

Bone has three main components: matrix, mostly made up of type 1 collagen, mineral, which is laid down on the matrix by osteoblasts, and bone cells: osteoclasts, which are derived from haemopoietic precursors, osteoclasts, which are of fibroblast precursor origin, and osteocytes, the most numerous, which are derived from osteoblasts.Osteoblasts operate under the influence of several humoral factors including PTH, 1,25(OH)2D and cytokines which...

ea0017oc13 | Diabetes 1 | BSPED2008

Children with Type 1 diabetes should be screened for lipid abnormalities at annual review

Howard S , Allgrove J

Background: Hypercholesterolaemia has been identified as a major risk factor for cardiovascular disease in adults with Diabetes Mellitus (DM), and studies have shown evidence of raised lipid levels in children with Diabetes. However, current NICE guidelines state that ‘Routine screening for elevated blood lipid levels is not recommended for children and young people with type 1 diabetes’; although ISPAD and APEG recommendations are for lipid screening in those over 1...

ea0017p34 | (1) | BSPED2008

Hereditary vitamin D resistant rickets (HVDRR), diagnostic and therapeutic challenges

Ali K , Allgrove J , Ryan F

Case history: A 2 year old Pakistani boy born of consanguineous parents was referred for a dermatological opinion as he had total alopecia. He was born with a full crop of hair, which was shaved at 7 days of age as per religious custom and had not grown back. His motor milestones were delayed such that he started crawling at 14 months and was unable to walk independently. His weight was on the 0.4th centile and his height (72 cm) was far below the 0.4th centile. His anterior f...

ea0019oc28 | Bone and Calcium | SFEBES2009

Novel Glial Cells Missing B (GCMB) mutations (Arg39Stop and Arg110Trp) that result in loss of subcellular localization and DNA binding, respectively, are associated with autosomal recessive hypoparathyroidism

Bowl MR , Mirczuk S , Cranston T , Bahl S , Allgrove J , Nesbit MA , Thakker RV

GCMB, which is the mammalian homologue of the Drosophila gene Glial cells missing, encodes a 506 amino acid parathyroid-specific transcription factor that contains: a GCM DNA-binding domain at residues 19–176; a predicted nuclear localization signal (NLS) at residues 176–193; an inhibitory domain at residues 258–347; and two transactivation domains at residues 174–263, and residues 428–506. To date only six different GCMB mu...