Bone Abstracts

Backround: Vitamin D dependent rickets type 1 (VDDR-1) is an autosomal recessive disorder caused by 1a hydroxylase enzyme deficiency, that leads to low or undetectable levels of 1,25 dihydroxyvitamin D despite normal levels of 25-hydroxyvitamin D levels. Additional laboratory findings include hypocalcemia and increased levels of parathyroid hormone. Clinically, it presents as early onset rickets and severe hypotonia.Presenting problem: A 6-year-old Cauca...

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/...

Objectives: Bone mass development through childhood is very important for osteoporosis prevention during adulthood. Physical activity (PA) and/or exercise can influence positively bone matrix and its contents in pre-adolescents Sclerostin, a glycoprotein produced by osteocytes, promotes osteoclastic activity and it is associated with reduced bone formation. The purpose of this study was to describe the relationship between PA and sclerostin levels in pre-adolescent boys and gi...

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...

Acute phase reaction (APR) is the most frequent side effect following i.v. nitrogen-containing bisphosphonates (N-BPs) infusion. A recent observation in osteoporotic women treated with N-BPs evidenced a negative association between 25(OH)D levels and APR, likely due to the immuno-modulatory effects of vitamin D on γδTcells. However, this association remains to be demonstrated in patients with Paget’s disease of bone (PDB). Moreover whether vitamin D supplementat...

Introduction: Autosomal dominant hypophosphatemic rickets (ADHR) is a rare form of inherited isolated renal phosphate wasting with two distinct clinical phenotypes; early-onset and late-onset. Late-onset ADHR is characterized by normal phosphate levels and growth during childhood, followed by osteomalacia with bone pain, pseudofractures and weakness in adolescence or adulthood, but with no lower extremity deformities. Most of the late-onset ADHR patients are women and pregnanc...

Objectives: The aim is to examine the serum levels of 25(OH)vitamin D in children and adolescents with type 1 diabetes mellitus and in healthy controls and to determine whether patients with diabetes have higher prevalence of vitamin D deficiency/insufficiency and whether it is correlated to its metabolic control.Methods: A cross-sectional study of 73 patients (35 males) aged 11.84±4.44 years and 27 healthy controls (15 males), aged 7.36±4.71 y...

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...