Bone Abstracts

Introduction: We aimed to study efficacy of zoledronic acid (Zol) in the treatment of postmenopausal osteoporosis within 3 years.Methods: Clinical, bone mineral density (BMD) by DEXA (L1–L4, femoral Neck) (baseline, 12, 24, and 36 months); biochemical; immunoenzyme assay of bone turnover markers (BTM) – osteocalcin (OK) β-C-terminal telopeptides of type 1 collagen (CTX) (baseline, 1, 3, 6, 9, and 12 after one, two, three infusions).<p ...

Introduction: Heterotopic ossification (OH) is a rare condition characterized by the presence of extra-skeletal ossification; in most cases OH is due to the inactivation of the gene of guanine nucleotide-binding protein alpha-stimulating activity polypeptide (GNAS). In some cases they remain confined to skin and subcutaneus tissues (osteoma cutis, Albright hereditary osteodystrophy (AHO), pseudohypoparathyroidism type 1a and c (PHP1a/c), and pseudopseudohypothyroidism (PPHP)),...

In recent years, the important role in bone remodelling Wnt/β-catenin pathway is highlighted. Key receptor of this pathway is LDL receptor-related protein 5 (LRP5). It was demonstrated in adults that polymorphism in LRP5 gene was associated with bone mineral density and fracture risk. So far no such studies were conducted in children.The aim of the study was the analysis of LRP5 and COL1A1 genes in a patient with r...

In type 2 diabetes mellitus (T2DM) patients, an increased fracture risk is observed, although the bone mineral density is even higher than in non-diabetic patients, which raises the question of the quality of the organic and inorganic matrix in bone1,2. T2DM is also known to favor inflammation of the gingiva and paradontosis in general. However, little is known about the mineral nano-architecture in the mandible and about the possible influence of diabetes. Using sy...

FGF-23 is a phosphate regulating hormone and its production may be stimulated by circulating levels of 1,25-dihydroxyvitamin D (1,25-(OH)2D). Teriparatide administration increases levels of 1,25-(OH)2D, however it is unclear whether this mediates changes in FGF-23 levels. The aims were i) to determine the effect of teriparatide treatment on circulating levels of FGF-23 and 1,25-(OH)2D and ii) to describe the time course of effect in postmenopau...

Effects of whole bone scaling on isolated osteoblast behaviour are unknown. With two orders of magnitude range in body mass, dog breeds are well-suited to determine such relationships.Femoral heads from three canine hip replacement surgeries were collected. Bone fragments were washed in PBS+AB/AM, trypsin-digested and incubated in 0.2% collagenase. Cells from resultant supernatant were seeded in DMEM+10% FCS+AB/AM at 37 °C, 5% CO2, g...

In a meta-analysis by Estrada et al. (2012), 56 loci were found associated with BMD, 14 of which were also associated with osteoporotic fracture. Several of these genes belong to the Wnt signaling pathway, including two inhibitors: DKK1 and SOST.To better understand the role of these genes in BMD determination and fracture susceptibility, we aimed to explore their allelic architecture by resequencing all coding exons and flanking region...

Anorexia nervosa (AN) is an eating disorder characterized by severe undernutrition. Osteopenia is a frequent, often persistent complication of anorexia nervosa (AN) in adolescent girls and occurs during a critical time of bone development. To determine the impact of chronic undernutrition on bone mineral accrual we measured bone mineral density by dual energy x-ray absorptiometry, bone metabolism markers and leptin levels in AN patients (n=19, age 22.67±1.9 years...

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: Mutations in SATB2 have been described in association with a unique phenotype known as SATB2-associated syndrome (SAS). This condition is characterised by severe intellectual disability affecting speech development, behaviour, facial features and dental anomalies. Skeletal features and osteoporosis have been reported in older individuals (aged 15–36), in association with point mutations. We report a 24-year-old man with a SATB2 misse...