Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp391 | Osteoporosis: treatment | ECTS2013

Electronic clinical decision support for the management of osteoporosis in primary care

Selecki Yvonne , Center Jaqui , Nguyen Tuan , Eisman John

The gap between osteoporosis clinical guidelines and their implementation exists in all countries. The increasing use of computerised patient records offers new opportunities to aide clinical decision making. We have developed a fracture and osteoporosis investigation and treatment clinical decision tool to aide primary care management of osteoporosis. Uniquely, this tool is designed to be integrated with existing patient data software.Electronic clinica...

ba0006p065 | (1) | ICCBH2017

A novel form of congenital rickets due to a recurrent gain of function mutation in CYP3A4

Rodda Christine P , Levine Michael A , Roizen Jeffrey D , Javaid Muhammad K , Ebeling Peter R , Nguyen Hanh , Dewez Peter , Shaw Nicholas J

Although Vitamin D deficiency is the most common form of rickets worldwide, when there is a failure to respond to cholecalciferol, inborn errors of vitamin D metabolism should be considered. We describe two unrelated individuals who presented with early onset rickets characterised by reduced serum levels of 25(OH)D and 1,25(OH)2D, and a deficient response to Vitamin D2/D3 and calcitriol. Case 1: A Caucasian Australian girl with non-consanguineous parents ...