Bone Abstracts

Objectives: Metabolic bone disease is a frequent complication of end-stage renal disease, characterised by a decreased bone mineral density, which can be measured with dual-energy X-ray absorptiometry. Its validity as a marker for clinical bone disease and increased fracture risk has never been established in adults with pediatric onset of end-stage renal disease (1–3). Adult survivors of pediatric end stage renal disease have very low bone mineral density and small statu...

Background: Idiopathic infantile hypercalcemia (IIH) is a rare disorder caused by CYP24A1 loss-of-function mutation, resulting in impaired degradation of 1,25-dihydroxyvitamin D3. Typical signs include muscle hypotonia, dehydration, failure to thrive, psychomotor retardation, constipation, nephrocalcinosis. IIH should be distinguished from other causes of hypercalcemia in infancy. Treatment includes low calcium diet, glucocorticoids, furosemide, calcitonin. Pamidron...

Children with chronic gastroduodenitis (CGD) have decreased absorption of nutrients, minerals particularly, which can influence on bone strength and linear growth.Objectives: We evaluated bone mineral density (BMD) in children with CGD and compared with healthy individuals.Methods: BMD was measured in 97 children aged 5–13 years by lumbar spine DXA (DPX MD+, Lunar) with pediatric reference database. BMD was evaluated according...

Aim: To assess long term safety of low dose pamidronate therapy and the effects on pubertal growth spurt.Methods: A retrospective study was conducted in 36 girls and 21 boys whose mean age was 4.1±3.6 years at baseline. Intravenous pamidronate 3–4 mg/kg per year once daily therapy with 2–4 cycles/year for 0.5–15 years) was given with physical therapy and orthopedic surgery as appropriate. Mobility score, height, puberty and bone miner...

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of disorders characterized by bone fragility. The current classification comprises five forms (OI types I–V) with autosomal dominant inheritance and seven rarer forms (OI types VI–XII) with recessive inheritance. OI type V (MIM 610967) has distinguishing radiological features, such as propensity to hyperplastic callus formation, calcification of the forearm interosseous membrane, radial-head dislocatio...

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...

Background: Progressive osseous heteroplasia (POH) (OMIM 166350) is a rare autosomal dominant condition, characterized by heterotopic ossification of the skin, subcutaneous fat and deep connective tissue. This condition is distinct from Albright’s hereditary osteodystrophy or Mccune–Albright syndrome (AHO) (OMIM 103580) and fibrodysplasia ossificans progressiva (FOP) (OMIM 135100).Presenting problem: We present an unu...

Fibroblast growth factor-23 (FGF23) is a hormone originating from osteocytes with suppressive actions on renal phosphate reabsorption and vitamin D synthesis. We recently identified FGF23 as a calcium-conserving hormone, regulating the membrane transport of the epithelial calcium channel TRPV5 in distal renal tubules. Here, we analyzed the long term sequelae of Fgf23 deficiency and renal calcium wasting on bone and mineral metabolism in 9-month-old mice lacking both Fgf23<...

Introduction: Despite the popularity of platet lysate (PL) treatments in orthopaedics, the mechanism of action and the effectiveness of this therapeutic tool is still controversial. So far, the activity of PL has been associated with different growth factors (GFs) released upon platelet degranulation. However, PL activity might also be due to the efficient cell to cell transport system of GF and other bioactive molecules by their encapsulation into exosomes. In this study, we ...

Caspases belong to cysteine proteases participating in apoptosis and inflammation. However, there is recent evidence about their functions also in other events such as cell differentiation. This is supported also by our latest research of odontogenesis and osteogenesis. With the increasing interest in caspases due to their apoptosis-related therapies but also emerging non-apoptotic roles, exact evaluation of their impact at single cell level becomes challenging.<p class="a...