Bone Abstracts

Background and objectives: X-linked hypophosphatemic rickets (XLH) is the most common form of inheritable rickets. The treatment of rickets is monitored via laboratory tests such as alkaline phosphatase (ALP), clinical features, and plain X-rays. The objectives of this study were to describe the MRI features in XLH and to look for correlations between those features and XLH activity.Study design: Twenty-seven patients (younger than 18 years with XLH due ...

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...

Aims: To investigate the role of interleukin-6 (IL-6) as a modulator of osteoclastic resorption in vitro in acute Charcot osteoarthropathy.Material and methods: Peripheral blood mononuclear cells were isolated from six patients with acute Charcot osteoarthropathy, five diabetic and five healthy controls and cultured in vitro on bovine bone disks for 21 days in the presence of i) macrophage-colony stimulating factor (M-CSF) and receptor ...

Osteogenesis imperfecta (OI) is most commonly caused by a defect in the gene that produces type I collagen. Features include fractures and ligamentous laxity. Reduced muscle tone is often seen, which can result in gross motor delay in younger children.Dynamic elastomeric fabric orthoses (DEFOs or lycra garments) are widely used in children with low truncal muscle tone, have been shown to improve posture, and increase stability. There is no research in th...

Objective: Osteogenesis imperfecta (OI) is most commonly caused by a defect in the genes that produce type I collagen. Clinical features include low bone mass, fractures and spinal abnormalities. Pars defects are abnormalities in the pars interarticularis of vertebrae. There is a higher incidence of pars defects in the lumbar spine in children with OI compared to the normal population. Abdominal muscle weakness and altered spinal postures are common presentations in the childr...

Objectives: XLH is a rare, genetic, inherited disorder characterised by low blood phosphate which leads to inadequate mineralisation of bone, resulting in a spectrum of skeletal and functional muscle abnormalities, abnormal tooth development, physical and functional impairments. Treatment with conventional therapy places a significant burden on patients and families; it can require complex treatment dosage schedules, is often poorly tolerated, and can be associated with seriou...

Children with long-standing chronic kidney disease (CKD) display clinical symptoms of bone disease, including boney deformities and fractures, which contribute to long-standing disability. Bone biopsy is the only available method for assessing all three recommended areas of bone histology (turnover, mineralization, and volume) and new techniques in human bone tissue analysis have shed light on the progression of renal ROD throughout the course of CKD, including its early stage...

Biographical DetailsKate Wesseling-Perry, MD, is an Assistant Professor in Pediatric Nephrology at UCLA. Her research is focused on understanding the regulation of skeletal mineralization in patients with all stages of chronic kidney disease. Her research interest is identifying the abnormalities in bone that lead to the early development of renal bone disease....

Introduction: Using transgenic mice ectopically expressing Hoxa2 all along chondrogenesis, we previously associated the resulting animal phenotype to human idiopathic proportionate short stature. Our analysis showed that this overall size reduction was due to a negative influence of Hoxa2 in the very first step of endochondral ossification. As the molecular pathways underlying this pathogenesis are still unknown, we here tried to identify the impact of Hoxa2 overexpression on ...