Bone Abstracts

I will describe non-cancerous skeletal diseases that occur as a consequence of somatic mutation. I will introduce the work of Drs Mary Lyon, Dorothea Bennett, and Rudolf Happle that provided insights into the mechanism responsible for several genetic, non-heritable diseases. I will then describe the technology and analytic strategies that several laboratories, including my own, employed to identify mutations in patients with Maffucci, Proteus, CLOVES, and Klippel-Trenaunay syn...

Background: Patients with differentiated thyroid cancer (DTC) are treated with L-thyroxine (L-T4) in relatively hight doses to suppress endogenous TSH levels. Very long-term effect of thyroid hormones supplementation on bone are controversial.Objetive: To study the possible negative effects on bone mineral density (BMD) and bone markers in DTC patients followed in our center.Methods: A 46 po...

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Obesity is associated with greater risk of proximal humerus and ankle fracture, despite greater areal BMD (aBMD). We aimed to investigate whether greater risk of some fractures in obesity was due to skeletal or non-skeletal determinants. 100 individually-matched pairs of normal weight (NW) (18.5–24.9 kg/m2) and obese (OB) (BMI >30 kg/m2) individuals, aged 25–40 and 55–75 years underwent DXA to determine hip and lumbar spine aBMD, whole ...

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Childhood hypothyroidism results in delayed skeletal maturation and impaired growth. Thyroid hormones act via temporo-spatially regulated thyroid hormone receptors α (TRα) and (TRβ).In the skeleton, TRα is the predominant receptor and we hypothesise that the skeletal effects of hypothyroidism are mediated by TRα.To investigate this we assessed the response of wild-type (WT), TRα knockout (TRα...

Background: The presence of vascular calcification (VC) is a predictive factor for the development of cardiovascular diseases, especially in the obese population. VC has also been inversely associated with bone mineral density (BMD) but the results have been inconsistent. The main aim of this study was to evaluate the associations between VC, obesity and volumetric BMD (vBMD).Methods: We studied 148 healthy men and women, aged 55–75 years, divided i...

Aim: To determine the prevalence of vitamin D deficiency among adolescent Muslim girls attending a school in the UK, which adheres to a conservative dress code.Methods: Fifty-six (31%) out of 180 girls attending a Muslim High School for Girls (median age 13.2years, (IQR 12.5–13.8 years)) took part in this cross-sectional study. Seventy-nine percent (n=45) were of South Asian origin, 3.5% were Black African origin (n=2), 1.8% was Mi...

Multiple myeloma is usually incurable, the bone marrow niche providing a protective microenvironment for quiescent tumour cells. We hypothesised that manipulation of BMP activity, a regulator of cell differentiation in the bone marrow, might affect control of tumour growth by its niche and in addition alter the lytic bone disease of myeloma. Moreover BMP signalling contributes to the hepcidin upregulation and resultant inflammatory anaemia that is characteristic of myeloma. Re...

Cases of non-vitamin D deficiency rickets have been reported in African countries including The Gambia, South Africa and Nigeria where the likely aetiology is a chronically low dietary calcium intake. Additional aetiological factors in Gambian studies are iron deficiency leading to a disruption in phosphate metabolism.Surgical correction of pathological rickets-like lower-limb deformities is the most common operation performed at the Beit Cure Orthopaedi...