Bone Abstracts

Objectives: Creation of reference curves for areal bone mineral density (aBMD) and bone mineral content (BMC) with consideration of relevant anthropometric variables.Methods: Analysis of the dual-energy X-ray absorptiometry (DXA) data collected as part of the Bone Mineral Density in Childhood Study1, including 2012 boys and girls, 5–22 years old, with a total of 10 525 visits, resulting in aBMD and BMC observations at the lumbar spine, hi...

Background: There is still limited information on changes in growth especially segmental growth and bone mass of glucocorticoid(GC) treated boys with Duchenne Muscular Dystrophy (DMD).Objectives: To evaluate changes in growth and bone mass in GC treated boys with DMD.Methods: Retrospective study of 15 boys with DMD treated with GC, median age 7.6 years (4.1, 15.5) who had repeated DXA scan for clinical monitoring of bone health, me...

Vertebral fractures (VF) in adults are the most common osteoporotic fracture, are powerful predictors of future fracture risk (hip X2; spine X5) and their prevalence increases as bone mineral density (BMD) declines. The most common imaging method for diagnosis is spinal radiography, but they can be identified fortuitously also on other imaging techniques performed for various clinical indications.1 Midline reformations of multi-detector CT (MDCT) scans of thorax and...

Background: Elevated plasma homocysteine levels are a risk factor for osteoporotic fractures. Supplementation with vitamin B12/folic acid lowers homocysteine levels. This study aimed to determine whether vitamin B12/folic acid supplementation reduces osteoporotic fracture incidence in hyperhomocysteinemic elderly.Methods: B-PROOF is a double-blind, randomized, placebo-controlled trial including 2 919 participants aged ≧65 years with elevated homocyste...

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 ...

Introduction: Resistance to thyroid hormone (RTH) is a rare disease, characterized by elevated thyroid hormone and not suppressed TSH concentrations. In 85% of cases it is related to TRβ gene mutations.Objectives: To evaluate biochemical and densitometric features of 14 patients with RTH (RTHG: 7 females (4 children) and seven males (2 children)) in comparison to 24 control subjects (CG, 14 females (8 children) and 10 males (4 children)).<p clas...

Background: Morquio disease was described by the Uruguayan pediatrician Luis Morquio. It’s a congenital disease caused by a deficiency of the N-acetilgalactosamine 6 sulfatase (MPS IV A) or B galactosidase (MPS IV B) and his frequency is 1/100 000 live births Accumulation of mucopolysacharides in tissues results in short stature, skeletal anomalies (vertebral column deformities), loss of hearing, visual anomalies (corneal opacities), cardiac, hepatic and respirat...

Background: Achondroplasia is a genetic disorder wich affects bone growth leading to short stature. It occurs in 1 of every 25 000 live births and it is characteristized by short extremities, hyperlordosis, small hands and macrocephaly, with high forehead and saddle nose. Neurologic complications are due to narrowing of the vertebral foramen. Is transmitted as autosomal dominant and it is due to mutations of the FGFR3 gene witch codifies the fibroblastic receptor of G...

Background: Pseudohypoparathyroidism is characterized by a resistance to parathormone, with variable phenotypical and biochemical manifestations. With genetic disorder caused by heterozygous inactivating mutations in GNAS1, the gene encoding the alpha-chain of G(s), and is associated with short stature, obesity, brachydactyly, and sc ossifications. AHO patients with GNAS1 mutations on maternally inherited alleles also manifest resistance to multiple hormones (e.g. PTH, TSH, LH...

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