Bone Abstracts

Background: Osteogenesis imperfecta (OI) is a group of hereditary disorders characterized by bone fragility and osteopaenia, with a broad spectrum of clinical severity. The majority of cases are dominantly inherited and due to mutations in type I collagen genes, whereas recessive forms are less frequent and attributable to mutations in different genes involved in collagen I post translational modifications and folding (prolyl-3-hydroxylase complex, SERPINH1, FKBP1...

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...

Aim: Lean mass is a strong determinant of bone structure, particularly during growth and development. We sought to determine if there are sex differences in bone acquisition in pre-pubertal children and the potential relation with skeletal loading.Methods: This study included 3602 children (50.7% girls) whose total body BMD and hip scans were measured on the same iDXA devise (GE-Lunar) at 6 years of age. Hip scans underwent hip structural analysis (HSA) ...

Introduction: Osteoporosis is frequently associated with renal disease, namely the bone metabolism disturbances caused by secondary hyperparathyroidism of chronic kidney disease (CKD). The increased risk of fragility fractures is well demonstrated in patients with end-stage renal disease (ESRD). There is recent evidence that bone pathological changes start early in the course of CKD. Our aim is to evaluate whether chronic renal disease, before ESRD, is associated with bone fra...

Introduction: Osteocytes play a major role in the bone remodelling unit (BRU). Thus, we hypothesize that mitochondrial bioenergetics impairment and mitochondrial/peroxisomal fatty acid β-oxidation unbalance is a cause of osteocytes metabolic decline during 17β-estradiol (E2) reduction. E2 and a phytochemical substitute, coumestrol (COU) were used (30 mg/kg during 24 h in ovariectomized rats in order to compare bone loss with sham-operated animal...

YB-1 (Y-box binding protein 1) is a multifunctional cold-shock protein that has been implicated in all hallmarks of cancer. Elevated YB-1 protein levels were correlated with poor prognosis in several types of cancers, including breast cancer (BC). In BC, high YB-1 expression is a marker of decreased overall survival (OS) and distant metastasis-free survival across all subtypes. YB-1 is also secreted by different cell types and may act as an extracellular mitogen. Therefore, ou...

The transplantation of autologous bone graft represents the ‘gold standard’ treatment for large bone defects, despite the harvesting co-morbidity and limited availability. An alternative scaffold-based approach is presented. Our aim was to investigate to what degree structured scaffolds alone, or in combination with biological stimuli, allow guiding tissue regeneration. Scaffolds consisting of medical-grade polycaprolactone and tricalcium phosphate microparticles, co...

Children with 21-hydroxylase deficiency (21-OHD) need chronic glucocorticoid (cGC) therapy to replace congenital deficit of cortisol synthesis, and this therapy is the most frequent and severe form of drug-induced osteoporosis. In the study we enrolled 18 patients (9 females) and 18 sex- and age-matched controls. We found in 21-OHD patients high serum and leukocyte levels of dickkopf-1 (DKK1), a secreted antagonist of the Wnt/β-catenin signaling pathway, known to be a key...

Multiple myeloma (MM)-bone disease occurs in 70 to 80% of patients at MM diagnosis, and up to 90% at relapse; skeletal related events cause high morbidity and mortality. MM-bone disease consists of lytic lesions arising as a consequence of an unbalanced bone remodelling due to osteoclast (OC) activation, and osteoblast inactivation. Osteoclastogenesis may be under immune cell regulation through the production of numerous cytokines, such as LIGHT/TNFSF14, a newly identified mem...

Objectives: The present study aims at evaluating bone mineral density (BMD) in a population of children with Neurofibromatosis type I (NF1), with particular focus on changes occurring during growth and pubertal development, trying to understand the magnitude and timing of onset of BMD impairment in this multisystemic and progressive disease, the latter poorly defined so far.Methods: Bone metabolic markers (total calcium, phosphorus, bone alkaline phospha...