Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p105 | (1) | ICCBH2017

Low serum alkaline phosphatase is often not recognised by clinicians

Moylan Alex , Zulf Mughal M. , Wakeling Emma L. , Peeva Daniela , Jacobs Benjamin

Objective: The significance of low alkaline phosphatase (ALP) is often not recognised by clinicians. It is the hallmark of hypophosphatasia and this oversight leads to delays in diagnosis, inappropriate treatment and potentially harm. Using the standard that an abnormal result should be recognised by the clinician and the potential cause and need for further investigation documented in the medical records we conducted an audit of our practice at the Royal National Orthopaedic ...

ba0006p131 | (1) | ICCBH2017

The treatment of Camurati-Engelmann disease with Losartan: a case report

Moylan Alex , Wakeling Emma L. , Mughal M. Zulf , Keen Richard , Thornton Matt , Peeva Daniela , Jacobs Benjamin

Background: Camurati-Engelmann disease (CED) is a rare bone dysplasia characterised by hyperostosis and sclerosis of the diaphyses of the long bones and skull. It is caused by autosomal dominant gain-of function mutations within TGFB1, which result in increased activity of transforming growth factor β1 (TGF-β1). It typically presents in mid-childhood with bone pain, myopathy and progressive immobility. Evidence for treatment is based on a number of case repo...