Bone Abstracts

Optineurin (OPTN) is a protein encoded by the OPTN gene. This protein is involved in several cellular mechanisms such as autophagy, NF-κB signaling, cellular morphogenesis, membrane and vesicle trafficking, and transcription activation. Mutations in OPTN have been described in glaucoma, amyotrophic lateral sclerosis and other neurological diseases. More recently, a polymorphism in this gene was also identified by a genome wide association study to be ass...

Background: Pycnodysostosis (PDO) is a rare autosomal recessive high bone mass disorder caused by absence of active cathepsin K, which is a lysosomal cysteine protease that plays an important role in degrading the organic matrix of bones. In spite of open fontanelles, raised intracranial pressure has been reported in children with PDO.Presenting problem: We describe a 13-year-old boy with PDO who developed raised intracranial pressure (ICP) which led to ...

Background: Gorham Disease is a rare condition characterised by massive osteolysis. The pathophysiology is related to angio/lymphatic proliferation within bone. No genetic transmission has been identified and onset occurs in patients of all ages. Surgical fixation of the spine may be unsuccessful due to progressive osteolysis of bone surrounding the metalwork, or of the bone graft.Presenting problem: An 11 year-old boy presented with a 2 year history of ...

Aim: Scoliosis is a common skeletal problem affecting 10–30% of patients with neurofibromatosis type 1 (NF1). NF1 patients have been shown to have reduced bone mineral density (BMD) which may play a role in the pathogenesis or progression of scoliosis. Our centre is one of four international centres currently evaluating the efficacy of various spinal imaging techniques and BMD as predictors for scoliosis in NF1. In our cohort we measured the lumbar spine (LS) BMD both by ...

Recent studies have demonstrated that the global or osteoblast-specific deletion of neuropeptide Y Y1 receptor (Y1R), as well as the pharmacological blockade of Y1R, leads to pronounced anabolic effects in bone metabolism. This suggests that anti-Y1R drug therapy might have clinical applications for the prevention/recovery of bone loss occurring in osteoporosis. Given the high fracture incidence in this target population, it remained...

Using ovariectomized rats as an animal model of postmenopausal women, we examined the causal relationship between fluoride (F) exposure and the high risk of development of osteoporosis. In order to obtain the estrogen (Es) deficient animals, 5-week-old Sprague–Dawley rats, which were overiectomized at 3- and the 5-week-old female rats without ovariectomy were purchased. The overiectomized rats were divided into two groups: the Es deficient, and the combination of Es defic...

Intermittent PTH administration (iPTH) increases bone mass in humans and animals. PTH exerts its effects by binding to PTH type 1 receptor (PTHR1) predominantly expressed in osteoblasts, resulting in activation of multiple downstream signaling pathways. In vitro investigations have suggested that p38 mitogen-activated protein kinase (MAPK) signaling is an important mediator of PTH-induced osteoblast functions.To evaluate the contribution of p38a...

Due to its huge socio-economic impact a better understating of osteoporotic fracture healing is crucial.Thirty-one female merino land sheep were randomly divided into four groups. (i) Untreated control-group (C, n=8); (ii) bilateral ovariectomy (OVX, n=7); (iii) OVX and calcium-deficient diet (OVXD, n=8); and (iv) OVXD and additional biweekly corticosteroid injections (OVXDS, n=8). Drill-hole defects (7.5 mm in diamete...

Objective: The purpose of this study was to compare the efficacy of raloxifene (RLX) 60 mg daily, vitamin D (VD) 200 IU daily, and alendronate (ALN) 35 mg once weekly on bone mineral density (BMD) of lumbar spine (L) and total femur (F) in postmenopausal women with osteoporosis, and the effects of the osteoporosis risk factors on BMDs and these treatments.Design and methods: The subjects were 242 postmenopausal Japanese women aged 48–87 years (mean ...

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...