Bone Abstracts

Vitamin D plays an important role for bone health, and is associated to the risk of osteoporosis development.The aim of the present work was to determine the association between serum vitamin D concentration and the bone mineral density (BMD) in post-menopausal women living in a Mexican rural community (this study was approved by the Institutional Ethics Committee). The BMD was assessed by ultrasound and vitamin D was evaluated using a specific immunoass...

Alkaline phosphatase activity is critical for the mineralization of the bone matrix. Indeed, inactivating mutations of the ALPL gene, encoding the isoenzyme expressed in bone and liver, may result in the severe abnormalities of bone and other connective tissues that characterize hypophosphatasia. Nevertheless, the clinical spectrum of hypophosphatasia is rather broad and variable between a within families. Thus, along severe infantile forms, there are adult forms with mild man...

Background: Pseudohypoparathyroidism (PHP) is a group of heterogeneous endocrine disorders characterised by hormone resistance, primarily to parathyroid hormone (PTH). The resistance is caused by defects in the GNAS gene, which encodes the Gsα protein that activates the cAMP pathway. PHP patients demonstrate elevated plasma PTH, hypocalcaemia, hyperphosphataemia with normal renal function. PTH resistance can be confirmed by Ellsworth-Howard test (PTH s...

To point out common patterns of malalignment and deformity in hypophosphatemic rickets and describe treatment principles and techniques as well as common obstacles.Methods: Deformities of the lower limb in hypophosphatemic rickets do not resolve spontaneously under metabolic control of the disease. To prevent severe deformity and joint overload in the growing child guided growth has been shown to be effective in most cases. As recurrence of malalignment ...

Osteoporosis pseudoglioma syndrome (OPPGS) is a rare autosomal recessive disorder characterised by congenital or juvenile-onset blindness, severe juvenile-onset osteoporosis, and skeletal fragility. OPPGS is caused by loss-of-function mutations in the LRP5 gene, a member of the LDL receptor family. It activates the canonical Wnt/β-catenin pathway, regulating osteoblastic bone formation. We investigated a 40-year-old Caucasian male presenting with congenital blind...

Introduction: The utility of the determination of bone turnover markers in the evaluation of fracture risk at the patient level is not well-established. In type 2 diabetes (T2DM) there is an increased risk of fractures despite of higher bone mineral density. A recent study shows that a femoral neck T-score of −2.1 in males and −1.9 in females with T2DM present the same fracture risk than subjects without diabetes with a T-score −2.5 (Schwart...

Odanacatib (ODN), a selective and reversible cathepsin K inhibitor was shown to histomorphometrically reduce trabecular (Tb) and intracortical (Ic) bone remodeling while preserving endocortical (Ec) and stimulating periosteal (Ps) bone formation (BF) in monkeys. Here, we investigate the bone site specific mechanism of ODN on bone modeling (Mo) versus remodeling (Re)-based osteons. Rhesus monkeys (13–19 yrs, n=8–11/group) were ovariectomized and treated with ...

Type 2 diabetes mellitus impairs bone quality and increases fracture risk. We showed that diabetic ZDF rats have low bone mass due to impaired osteoblastogenesis, which can be partially reversed with an intermittent parathyroid hormone 1–84 (PTH) therapy. It remains unclear, why PTH treatment does not fully restore osteoblast (OB) function in diabetic conditions. Here, we tested if high glucose (HG) conditions lead to a partial PTH resistance in osteoblasts. Pre-osteoblas...

Introduction: Benign osteopetrosis type 2 (OPTA2) (Albers-Schönberg disease) is usually associated with a heterozygous mutation in CLCN7. Patients may be asymptomatic and present following an x-ray taken for other reasons or with a low trauma fracture. There may be a family history. Homozygous mutations in CLCN7 usually result in severe disease which presents in the neonatal period or early infancy. We present a case of benign osteopetrosis associated wi...

Objectives: The aim of this study was to assess the impact of age, sex, location of injury, physical activity, dietary intake of calcium and vitamin D on injury outcome in otherwise healthy children.Materials: This study was a cross-sectional prospective study. Children aged 6 to 15 years who presented to the Emergency Department of a single tertiary paediatric referral hospital were recruited. Children were included it they were known not to have underl...