Bone Abstracts

Background: Rett Syndrome (RS) is a disabling condition due to mutations in MECP2. Girls affected with RS are at risk of developing osteoporosis and fractures at a young age because of their lack of mobility and through a direct effect of MECP2 on bone mineralization. In these girls, bone fragility inflicts pain and may seriously impair the quality of life.Objective: To retrospectively assess the effect of IV bisphosphonates on fracture, bone mineral den...

Background: Biochemical and haematological testing is recommended in the United Kingdom when non-accidental injury is suspected. We examined the associations of test results with radiologically-confirmed fracture(s), and between test results, in a retrospective observational cohort.Methods: Infants up to age two years presenting with suspected non-accidental injury, without clinically-apparent bone disease, and where a skeletal survey was undertaken duri...

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Purpose: Multipotent stromal cells (MSC) have been considered promising for the regenerative strategies of articular cartilage. However, the MSC chondrogenic differentiation can ultimately lead to the formation of hypertrophic chondrocytes responsible for the calcification of cartilage. To prevent this MSC-dependent production of a calcified matrix in articular site, MSC hypertrophic differentiation has to be carefully controlled. Given that articular cartilage is avascular, w...

Objectives: To study acceptance and the effects on bone during a 6-month whole body vibration (WBV) therapy in severely disabled children.Methods: Nineteen patients, age 5–16 years, with severe motor disabilities completed the 6-month WBV therapy standing on a self-controlled dynamic platform with vibration, jumps and rotation. The WBV was performed twice per week at 40–42 Hz. Bone mass and biochemical markers were measured at start and after 6...

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Hypoxia and the hypoxia-inducible factor 1alpha (Hif1alpha) are known to play critical physiological functions in endochondral bone development. However, their role in abnormal cartilage formation (chondrodysplasia) is unknown. Our goal was to test the possibility that altered oxygen homeostasis, which would result in abnormal Hif1alpha expression and activity, could lead to chondrodysplasia. This was done using matrix metalloproteinase (MMP) 9 and 13 deficient mice, which pre...

Introduction: Langerhans cell histiocytosis (LCH) is a monoclonal disorder characterized by proliferation and accumulation of atypical Langerhans cells. Bone involvement is particularly destructive and to date, no standard of care exists. Bisphosphonates are osteoclast inhibitors that could target the multinucleated giant cells within the LCH lesions and might be used to alleviate bone pain and the progression of disease.Objective: To evaluate the effica...

Background: X-linked hypophosphatemic rickets (XLHR) represents the most common form of hypophosphatemia.Aim: The aim of this prospective study was to describe and analyze the incidence of cranial and cervico-occipital junction (COJ) anomalies in a series of children with XLHR.Patients and methods: Seventeen children (13 girls, 4 boys, mean age 7.3 years) followed for XLHR at the French national reference center for rare diseases o...

Genetic approaches to bone physiology utilising judicious gain and loss of function models have identified bone as an endocrine organ, being involved in the regulation of energy metabolism and reproduction. Recent advances expand our understanding and identify a new and unconventional role of bone beyond its classical functions. PHOSPHO1 is a bone specific phosphatase with a recognised role in bone mineralisation, but our present studies have now identified a novel role for PH...