Bone Abstracts

Biographical DetailsJosé Luis MillánProfessor José Luis Millán received his early training in clinical chemistry and biochemistry at the University of Buenos Aires, Argentina, and his PhD in Physiological Chemistry at the University of Umeå, Sweden, in 1983. Professor Millán is currently based at the Children’s Hea...

Background: Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant condition with an estimated prevalence of 1 in 78,000. The commonest cause of FHH is inactivating mutations of the calcium-sensing receptor (CASR) gene, with the rest mostly caused by missense mutations of the GNA11 and AP2S1 genes. FHH is characterized by persistent mild-to-moderate hypercalcemia, hypocalciuria with calcium-creatinine clearance ratio ⩽0.01. The disease runs a benign cou...

Increased understanding of the biochemical pathways leading to MV-mediated initiation of skeletal, dental and vascular calcification has been attained through the extensive use of single and double knockout mouse models as well as via overexpression of genes by transgenesis. Our current integrated model of these pathways is compatible with the following sequence of events: MVs initiate mineral deposition by accumulation of Pi generated intravesicularly by the action...

Introduction: Perthes disease (PD), idiopathic femoral head avascular necrosis, often results in deformity. The underlying cause is unclear and long-term function is directly related to the roundness of femoral head. Current treatment include mechanical treatments and various surgical procedures, which are therapeutic but can’t prevent collapse. A multicentre, prospective, randomised controlled trial of 12 months zoledronic acid (ZA) in children with PD was conducted. We ...

Osteoporosis (OP) is characterised by low bone mass and microarchitectural deterioration of the bone tissue, leading to enhanced bone fragility and increased fracture risk. OP causes an imbalance in the cellular remodelling process thus inducing changes in the bone’s mineral and organic phases that are responsible for its strength and stiffness. The purpose of this study is to investigate the early effects of OP progression on the arrangement of bone tissue mineral phase ...

Iisn’t uncommon to encounter patients with both a fragility fracture and only a slightly low BMD value or even normal one. Currently the DXA technology can assess information on trabecular microstructural texture supplementing the standard BMD measurement, using a new method: the trabecular bone score (TBS). In order to check TBS, BMD and their combination to discriminate patients with vertebral fracture, we scanned 946 subjects. The cohort was stratified using the WHO di...

The aim of the present study was to evaluate bone mass and bone microarchitectural texture as assessed by trabecular bone score (TBS) modification at spine during childhood growth in girls.The study group was composed of 415 healthy girls aged between 2 and 17 years old. Height, weight and BMI Z-scores were evaluated and compared to The WHO Child Growth Standards. Pubertal stage was evaluated using Tanner score. The areal BMD (aBMD) was assessed...

Children bone knowledge is relatively sparse. This is especially true for infant and for bone microarchitecture data. We have investigated, in this study, the age-related modifications of spine microarchitectural texture, as assessed by TBS, on male and female infants during their two first years of life.The study group was composed of 143 and 109 healthy female and male infants aged between 0 and 2 years. Height and weight Z-scores were signifi...

The aim of the study is to evaluate bone quantity (aBMD) and bone quality as assessed by TBS in DMD subjects.43 boys and girls suffering from DMD with a mean age 10.5±3.7 years and height and weight z-score (Zc) medians of −0.67 and 0.25 S.D. were included in the study. Spine DXA scans were obtained using a GE Lunar iDXA with software v13.31. Lumbar spine trabecular bone texture (TBS) was determined using Med-Imaps cust...

The aim of the study is to evaluate, across time, if a bone microarchitectural texture modification exists or not and to evaluate its associations with other bone and body composition parameters.16 Spanish children suffering from DMD with a mean age 9.7±3.0 years and height and weight z-score of −0.76 and 0.16 SD were included in the study. Spine DXA scans and body composition scans were obtained using a GE Lunar Prodigy at baseline, ...