Bone Abstracts

Aim: We present the case of a 36y female patient with multiple fragility fractures after the age of 21 and mutations in COL1A1, COL1A2 and GNAS genes.Material and methods: A 36y female patient with multiple fractures of the axial and appendicular skeleton was referred to us for consultation. The patient was born with hexadactyly of the left foot and had a history of mild thoracolumbar scoliosis (10°) and medium height (165 cm) with no other history ...

Objective: Idiopathic hypercalciuria (IH) is defined as excessive 24 h urinary calcium excretion (>4 mg/kg per 24 h), that persists after correction of dietary imbalances in the absence of secondary causes. Recent studies with DXA in children with IH provide evidence of decreased areal BMD. We used peripheral quantitative computed tomography (pQCT) of the tibia, to test the hypothesis that IH results in decreases of volumetric (mg/cm3) BMD of the trabecular and/...

Aim: We explored the hypothesis that idiopathic hypercalciuria (IH) causes increased bone loss in early post-menopausal women.Materials and methods: We studied 41 postmenopausal women with IH. Inclusion criteria: i) recently (<6 months) diagnosed and untreated IH, ii) postmenopausal status >2 years, and iii) normal renal function. Exclusion criteria: i) all causes of hypercalciuria other than IH and ii) use of any medication for osteoporosis 1-ye...

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity to fracture. It is a variable condition with a range of clinical severity. About 90% of patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes, which shows an autosomal dominant pattern (AD) of inheritance. Other genes are associated with the autosomal recessive (AR) ...

Background: Osteopetrosis (OP) is a bone disease which is characterized by increased bone density. Autosomal dominant osteopetrosis type II (ADO II, also called Albers-Schönberg disease) is the most common type and it is caused by heterozygous mutations in the chloride channel 7 (CLCN7) gene.Presenting problem: To present a patient with known medical and family history of osteopetrosis, who was diagnosed with Growth Hormone (GH) deficiency and was t...

Purpose: Denosumab is a new potent antiresorptive treatment of osteoporosis that can potentially induce a compensatory increase of parathyroid hormone (PTH) levels. We aimed to evaluate the alteration of PTH 1 and 6 months after denosumab’s administration (60 mg) with different regimens of calcium and vitamin D (Ca/D) supplementation, as well as the association of PTH with serum Ca and bone markers.Methods: This was a prospective, multicenter, study...

Background: Hypophosphatemic Rickets is an inherited disorder characterized by defect in bone mineralization, mainly in long bones due to hypophosphatemia. The most common form is the X-linked form but other forms such as autosomal dominant hypophosphatemic rickets and tumor-induces osteomalacia are also described. Symptoms usually begin in infancy or early childhood and there is a large spectrum of abnormalities. The most severe form causes bowing of legs, bone deformities, b...

Romosozumab is an investigational bone-forming agent that inhibits sclerostin. Recent data demonstrated that it stimulated bone formation, decreased bone resorption, and led to rapid and substantial increases in areal bone mineral density (BMD; McClung, J Bone Miner Res 27 (S1) S8–S9, 2012). In a Phase 1b, randomized, double-blind, placebo-controlled, multiple dose study, we studied the effects of romosozumab administered for 3 months and follow-...

Introduction: Osteoporosis-related fractures can cause substantial disability and increase health care costs, and mortality. There are many difficulties to access Greek women residing in remote villages and perform the FRAX tool for osteoporosis evaluation, especially, after the global economy crisis.Purpose: To estimate the prevalence of FRAX clinical risk factors, calcium intake habits and perform osteoporosis screening in 275 postmenopausal Greek wome...

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...