Bone Abstracts

Mutations in PLEKHM1 cause bone disease in humans and animals. Truncations causedeficient bone resorption by osteoclasts leading to osteopetrosis. A gain-of-function point mutation causes increased resorption leading to osteopenia. We and others have shown that PLEKHM1, a multi-modular protein, interacts with the small GTPase rab7 and is involved in vesicle trafficking, secretion, and membrane biogenesis. To investigate other interactions of PLEKHM1 we performed tandem affinit...

The autophagy protein LC3 is necessary for bone resorption by osteoclasts, although it has been suggested that this may be through a novel, autophagy-independent process, by promoting lysosomal fusion at the ruffled border (RB). This process would be analogous to LC3-associated phagocytosis (LAP), in which LC3 is acquired by phagosomes through an autophagy-independent process, and controls phagosome maturation by promoting fusion with lysosomes. We have investigated this possi...

Objective: In 2018 we started treating children with X-linked hypophosphataemic rickets (XLH) with burosumab, initially as part of an industry-sponsored early access program. We present what we did, the barriers to implementation and broader lessons for the introduction of treatments for rare bone diseases in the future.Method: Firstly, we identified suitable patients under the age of 18 years with XLH. For convenience we arranged dedicated clinics in wh...

Background: A 3.2 year old boy was reviewed following 2 low trauma femoral fractures. He had been born at 31 weeks gestation, his mother having been diagnosed with metastatic breast cancer at 12 weeks gestation. She received chemotherapy at 20 weeks gestation and was given intravenous zoledronic acid (ZA) during the second trimester for hypercalcaemia.Presenting problem: At 2.7 years, he fell on a tarmacked surface sustaining a diaphyseal fracture of his...

Objectives: From late 2015 a new protocol for zoledronic acid was adopted in our centre. This led to many children changing from pamidronate (PAM) to zoledronic acid (ZA) treatment. In a minority of cases the children and/or their families felt strongly that they wanted to change back to PAM. We present the characteristics of that minority and how bone turnover markers (BTMs) and bone mineral densities (BMD) changed whilst on ZA.Method: From Nov 2016 to ...

Our understanding of skeletal biology has revealed bone as a tissue under complex regulatory control, with numerous systems influencing bone development and remodeling. In contrast, the regulatory output from bone tissue is very minimal. However, skeletal research is currently undergoing a period of marked expansion. One aspect in particular is the relationship between bone and fat metabolism. In addition to well-defined responses to weight bearing, emerging evidence indicates...

Biographical DetailsPaul Baldock is Senior Research Fellow and Group Leader of the Bone Regulation Group, Neuroscience Research Program, Garvan Institute of Medical Research, Sydney, Australia. He completed his PhD in Human Physiology at the University of Adelaide in 2001 and since then has gone on to win several awards. His areas of interest are bone mass, neuropeptide Y, bone strength, ...

Child and adolescent obesity has reached epidemic proportions worldwide. The impact of excess fat on musculoskeletal health is of significant concern. Abnormal mechanical loading of the lower limbs in obese children may lead to anatomic alterations and an increased prevalence of slipped capital femoral epiphysis and tibia vara. Obese children are also over-represented in fracture groups and excess fat may result in low bone mass relative to body size, although this effect may ...

Biographical DetailsDr P Dimitri studied Medicine at the University of St Andrew’s in Scotland and the University of Manchester where he received a medal in pathology and a distinction in Paediatrics. In 2010 he was awarded a PhD in Medicine and the Michael Blacow Award from the Royal College of Paediatrics and Child Health for his work on the relationship of fat and bone in children...

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