Bone Abstracts

Spinal cord injury (SCI) has been associated with a marked increase in bone loss. This study analysed the effect of Wnt signalling antagonists (sclerostin and DKK-1) and their relationship with bone turnover markers and BMD evolution in patients with a recent SCI.Methods: Patients with a recent complete motor SCI (AIS A or B); (<6 months) were prospectively included. Bone turnover markers (bone formation: P1NP, bone AP; bone resorption: sCTx), Wnt an...

Objectives: To elucidate the incidence and risk factors of skeletal toxicity in children with ALL treated with the dexamethasone-based DCOG-ALL9 protocol.Methods: Prospectively, the cumulative incidence of fractures was assessed in 672 patients and compared between different subgroups using the log-rank test. Serial measurements of bone mineral density of the lumbar spine (BMDLS) were performed in 399 ALL patients using dual energy X-ray absor...

Background: Hypophosphatasia (HPP) is a heterogeneous rare, inherited disorder of bone and mineral metabolism caused by different mutations in the ALPL gene encoding the isoenzyme, tissue-nonspecific alkaline phosphatase (TNAP). Prognosis is very poor in severe perinatal forms with most patients dying from pulmonary complications of their skeletal disease. TNAP, a ubiquitous enzyme, is mostly known for its role in bone mineralization. TNAP deficiency, however, may als...

Juvenile Paget’s disease (JPD) is an extremely rare, yet painful and debilitating bone disease with onset occurring during early childhood. JPD can be caused by loss of function of osteoprotegerin, resulting in subsequent osteoclast stimulation via the activated receptor activator of nuclear factor-kappa B (RANK) pathway. Increased bone turnover and a lack of bone modelling lead to severe deformities, frequent fractures, short stature and loss of hearing.<p class="abs...

Objectives: By prospectively evaluating a cohort of girls we aim to identify population patterns linking adipokines and bone turnover during early and late adolescence and to assess the associations of those patterns with forearm bone mineral density (BMD).Methods: The study was developed within a population-based cohort of urban adolescents born in 1990 and assembled in public and private schools of Porto, Portugal (EPITeen). We analysed prospective dat...

Objectives: To determine the prevalence and intensity of D-deficiency in children and adolescents in the metropolitan area with subtotal deficiency of ultraviolet B (55° N).Methods: From May 2008 to May 2010 in a random sample of 163 Muscovites 0–18 years old (9.9±0.4; girls/boys, 81/82) serum 25-hydroxyvitamin D content was determined by chemiluminescent analysis (DiaSorin, Inc., USA; n=56 and Roche Diagnostics; n=107). ...

The role of the WNT pathway in skeletal maintenance has been extensively studied since the identification of mutations in key signaling WNT mediators (LRP5 and sclerostin) in high and low bone mass phenotypes. However, the identity of the key WNT ligand that signals via LRP5/6 has remained unknown. We aimed to identify genes with a major effect on the skeleton by studying individuals and families with early-onset osteoporosis or osteogenesis imperfecta (OI).<p class="abste...

TNF receptor-associated factors (TRAFs) −6 and −3 regulate RANKL and TNF signaling in osteoclast precursors (OCPs), but they can have opposing effects, and it is not known if their functions are inter-dependent. For example, TRAF6 is required for RANKL/RANK-induced osteoclastogenesis, while TRAF3 limits both RANKL- and TNF-induced osteoclastogenesis through proteasomal degradation of NF-κB-inducing kinase; and inhibition of autophagic degradation of TRAF3 by c...

Research design and methods: A characterisation of 225 European (Russian) osteoporotic postmenopausal women, treated for 2 years with amino-bisphosphonate zoledronic acid (zol), with respect to the adenosine/cytosine (A/C) rs2297480 farnesyl pyrophosphate synthase (FDPS) gene polymorphism, was carried out by PCR-based enzymatic digestion and quantitative PCR allelic discrimination on genomic DNA extracted from blood leukocytes. The association between these polymorphism genoty...

Vitamin D (vit D) plays an important role in the regulation of mineral homeostasis. Vit D insufficiency leads to decreased calcium and phosphorous intestinal absorption, parathyroid glands (PG) stimulation with consequent development of secondary hyperparathyroidism (HPT) and bone mineralization defect. We present a clinical case of a patient with tertiary HPT as a consequence of severe vit D deficiency.A clinical case: A woman 59 years old considered he...