Bone Abstracts

Objectives: To describe the incidence of vertebral fractures in steroid-treated children.Methods: Fractures were assessed prospectively each year for 3 years according to the Genant semi-quantitative method. Proportions of children with incident fractures were determined annually over the study period. To examine associations with baseline clinical factors, the 3-year total number of incident fractures was analyzed using multivariable Poisson regression....

Vertebral fractures (VF) defined by morphometric analysis of spine radiographs are the most common complication of osteoporosis. Those that come to medical attention, with symptoms such as back pain and kyphosis are termed clinical vertebral fractures (CVF) and account for significant morbidity and mortality. Although much progress was made in identifying loci for bone mineral density, the genetic determinants of CVF remain unclear. Here we present the initial results from a g...

Gaucher disease (GD) is a lysosomal storage disorder due to deficiency of glucocerebrosidase, leading to glucocerebroside storage mainly in macrophages, but also in other cells (lymphocytes, osteoblasts, and neurons).Clinically important bone manifestations of GD include severe acute ‘bone crisis’ (acute avascular osteonecrosis), medullary infarction, osteopenia or osteoporosis, osteolytic lesions, pathologic fractures, defective bone remodelli...

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. This raises the question of the quality of the organic and inorganic matrix in bone1–3. T2DM is also known to forward dysfunctions in the development of soft tissues such as brittle skin due to cross-linking of the collagen or inflammation of the gingiva. For the latter, a possible influence of diab...

Evaluation of time-related changes of serum biochemical bone metabolism markers was performed in male pigs. Control group (n=7) received saline. NanoCa group (n=7) received nanopartical calcium per os (Ace Nano Calcium, NanoTechWorld, Korea). Dex group (n=7) received dexamethasone (1 mg/kg/48 hr i.m.). NanoCa/Dex group (n=6) received simultaneously nanopartical calcium and dexamethasone the same as the groups NanoCa and Dex...

Background: Hypercalcemia in childhood is rare, can be of various origin and might go unrecognized until severe signs appear. We demonstrate hypercalcemia of different causes in two infants.Case no 1.: 5-month old girl with failure to thrive, constipation, muscle hypotonia, dehydration, where total calcaemia peaked to 4.25 mmol/l. Low calcium diet, application of glucocorticoids and furosemide resulted in a drop in calcaemia to values below 3 mmol/l and ...

Type V OI is characterised by interosseous membrane calcification and hyperplastic callus formation, but the infantile phenotype is less well recognised. In 2012 Arundel et al. described distinctive radiographic changes in an infant with type V OI. We report two further male infants (with genetic confirmation of type V OI) confirming the highly characteristic and consistent radiographic appearances that should aid early diagnosis.Case 1 – P...

Background: Fracture incidence rate and growth according to different glucocorticoid (GC) regimen in Duchenne Muscular Dystrophy (DMD) is currently unknown.Objective: To determine the extent of skeletal morbidity and the influence of GC regimen on fracture incidence rate and growth in a contemporary cohort of DMD in the UK.Method: Clinical details of 832 boys with DMD in the North Star database (2006–2015) from 23 centres were...

Background: Skeletal dysplasias include many pathological conditions that involve bone metabolism and health and most of them are associated with short stature. 211 genes are associated with bone dysplasia and short stature. Presenting problem: To present a boy with severe short stature and skeletal abnormalities. He was born at term AGA. Growth failure was noted from the age of 8 months. IGF-I levels were low and he was tested for growth hormone deficie...

Background: Osteogenesis imperfecta (OI) due to FKBP10 mutation is a rare variant of OI. FKBP10 encodes for FKBP65, a molecular chaperon that interacts with type I procollagen to prevent premature fibril formation and plays a role in collagen crosslinking. Defects in FKBP65 result in a spectrum of moderate to severe OI with remarkable variability in phenotypes.Presenting problem: The patient is the first child of non-consanguineous Caucasian parents. She...