Bone Abstracts

Introduction: Osteocalcin (OC) is a marker of bone formation but also seems to play a hormonal role in the regulation of glucose and energy metabolism. Recently, an association of BMI with a haplotype composed of three single nucleotide polymorphisms (SNPs) in the gene for OC, located on chromosome 1q22, was observed in ethnically homogeneous European pedigrees.Aim: The aim of the study was to test the association of these three polymorphisms in the gene...

Proteoglycans are abundant and structurally complex bio macromolecules. They reside on the cell surface and are a major component of the extracellular matrix including bone. Defective formation of proteoglycans may case pleiotropic connective tissue syndromes including EDS-like and Larsen syndrome–like phenotypes.We report on a girl with disproportionate short stature and joint laxity with pes planus and radial head dislocation. She was previously a...

Delayed healing of stress fractures constitutes a significant clinical problem causing prolonged pain and disability for the patients affected. All stress fractures exhibit Bone Marrow (edema) Lesions (BMLs) with and without fracture lines on MRI, and in cases of delayed union these lesions persist. Previous studies on transient osteoporosis and osteoarthritis have demonstrated that bisphosphonates can reduce BMLs. We therefore wanted to test, whether treatment with iv. zoledr...

Background: OI-V is an autosomal dominant type of OI, which is characterized by recurrent fractures, hyperplastic callus formation and forearm interosseous membrane calcification. Less than 5% of OI patients are diagnosed with OI-V. The 5’-UTR IFITM5 mutation is a single recurrent heterozygous mutation reported in the majority of these patients.Presenting problem: The 2 years old girl was born at term, BW 2880g(P25-50), L 48 cm (P25-50), OF...

Background: Spondylometaphyseal dysplasias (SMDs) comprise a diverse group of skeletal dysplasias and often manifest as short stature, growth-plate irregularities, and vertebral anomalies. One such condition is SMD with ‘corner fractures’ (OMIM #184255). These individuals generally show development of coxa vara, scoliosis and triangular ossification centers at the edges of metaphyses that simulate fractures.Presenting problem: To date only 16 p...

Objectives: Fibroblast growth factor 23 (FGF23) is a bone-derived phosphaturic hormone. The main target organ is the kidney, where FGF23 suppresses renal phosphate reabsorption and vitamin D synthesis. It also stimulates calcium reabsorption in the kidney. FGF23 secretion is stimulated by 1,25(OH)2D and by increased extracellular phosphate concentration, thus forming a feedback loop between kidney and bone. The bioactive intact FGF23 contains 251 amino acids and is glycosylate...

Osteoporosis-related hip fractures represent a substantial cause of mortality and morbidity in industrialized countries; nonetheless, past studies in Austria lack mortality figures save during hospitalization (in-hospital mortality).We therefore retrospectively retrieved pseudonymized invoice data from Austrian social insurance authorities covering roughly 98% of the entire population including 31 548 subjects over 51 years of age who sustained first hip...

Osteoporosis is commonly known as the prime risk factor for hip fracture in the elderly. We thus evaluated status and effect of osteoporosis treatment amongst hip fracture patients in a large Austrian cohort.Retrospectively retrieved pseudonymized invoice data from Austrian social insurance authorities covering roughly 98% of the entire population included 31 548 subjects over 50 years with first hip fractures between July 2008 and December 2010, with fo...

We retrospectively analyzed the incidence of hip re-fractures in Austrian hip fracture patients devoid of anti-osteoporotic drug treatment, taking vs not taking proton pump inhibitors (PPIs).For 31,668 patients ≥50 years sustaining a hip fracture in Austria between July 2008 and December 2010, information on hip re-fractures with follow-up until June 2011 and on filed prescriptions of PPIs and anti-osteoporotic drugs between July 2007 and June 2011...

Background: Rett Syndrome (RS) is a disabling condition due to mutations in MECP2. Girls affected with RS are at risk of developing osteoporosis and fractures at a young age because of their lack of mobility and through a direct effect of MECP2 on bone mineralization. In these girls, bone fragility inflicts pain and may seriously impair the quality of life.Objective: To retrospectively assess the effect of IV bisphosphonates on fracture, bone mineral den...