Bone Abstracts

Mutations in the C-propeptide cleavage site of both COL1A1 and COL1A2 cause dominant high bone mass (HBM) osteogenesis imperfecta (OI), characterized by bone hypermineralization. To elucidate the role of C-propeptide processing in bone formation, we generated heterozygous HBM mice in which both residues of the COL1A1 cleavage site were mutated to prevent cleavage by BMP1. HBM mice are smaller than WT in both weight and length and have extremely brittle bones....

Background: Subcutaneous fat necrosis (SCFN) of the newborn is an uncommon condition most commonly seen in term infants who have experienced perinatal stress presenting as nodules or plaques on the face, back or upper extremities. The associated complication of hypercalcemia is thought to be secondary to elevated 1,25-OH vitamin D from increased expression of 1-alpha hydroxylase from inflammatory granulomatous cells. However the natural history of SCFN, associated hypercalcemi...

Background: Previous studies with small number of boys with Duchenne Muscular Dystrophy (DMD) suggest that growth failure occurs in glucocorticoid naïve (GC) boys.Objective: To evaluate height and longitudinal growth in boys with DMD prior to GC.Method: Retrospective evaluation in boys with DMD with height measurements obtained for clinical purposes. Out of the 91 boys currently managed in Scotland, 51 had at least one height ...

Introduction: Vitamin D is an essential material in bone metabolism, and regulation of body minerals. Vitamin D deficiency has various causes, including limitations in sunlight exposure (type of clothing, sunscreen usage, indoor activity), seasonal geographic latitude and altitude, atmospheric pollution, diet, and ageing.The aim of the work was to determine the frequency of vitamin D deficiency among Ukrainian schoolchildren and its influence on bone min...

Background: The role of untrained observers in evaluating vertebrae height and therefore detection of vertebral fracture (VF) from spinal radiographs (SXR) and dual energy-absorptiometry (DXA) images in children with concerns about osteoporosis is currently unknown.Objective: To assess intra-observer agreement of morphometric measurements of vertebra height by an untrained observer using SXR and DXA in boys with Duchenne Muscular Dystrophy (DMD).<p c...

Background: Mutations in the ENPP1 gene have been identified in individuals with generalized arterial calcification of infancy (GACI), a life-threatening disorder characterized by calcification in the blood vessels, because of reduced availability of pyrophosphate. We describe a case of GACI due to a novel ENPP1 mutation.Presenting problem: The patient, born at term to non-consanguineous parents, was referred to us at birth with weak femoral pulses for e...

Proton pump inhibitors (PPIs) are a class of drugs particularly used in gastric disorders. They promote a decrease on gastric acid secretion by inhibiting the H+/K+ ATPases. Osteoclasts are cells specialized in bone resorption by H+ translocation to the bone surface. Thus, PPIs might be regarded as potential tools to modulate osteoclast resorption activity, particularly in conditions that are associated with a hyperactivation of osteoclasts, li...

Hydroxyapatite (HA) has been widely used as a biocompatible ceramic in many areas of medicine, mainly for contact with bone tissue, due to its resemblance to mineral bone. Owing to the nanofeatures of bone tissue, new nano-HA based materials are among the most promising challenges in bioactive ceramics. Recently, it was observed that fluoroquinolones have the ability to interfere with osteoclastogenesis, in standard polystyrene cell culture plates. The aim of this work is to a...

Aim: Periodontologists all over the world are more and more interested in connection between pathogenesis of aggressive periodontitis (AP) and calcium and vitamin D metabolic disturbances. Vitamin D besides its direct effect on calcium homeostasis, has immunomodulatory action, that makes interesting the study of vitamin D effect on pathogenesis of AP.Materials and methods: We studied 102 (49 males; 53 females) patients with AP (40.32±1.13), 42 patie...

Objective: Turner syndrome (TS) is a chromosomal aberration characterized by total or partial loss of one of the two X-chromosomes, and affects about 1 in every 2500 girls. TS patients can develop the bone disease with decreased bone density and selective reduction in cortical bone thickness, which probably contributes to the increased fracture risk. However, the mechanisms underlying the bone disease remain poorly understood. Thus, the aim of this study was to investigate the...