Bone Abstracts

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...

Objectives: Adolescent idiopathic scoliosis (AIS) is a complex three-dimensional structural deformity of the spine and its etiology remains unknown. Girls with AIS have taller stature, longer arm span, lower BMI, and generalized osteopenia. Leptin has been postulated as one of the etiologic factors of AIS because of its important physiological functions in neuro-osseous development affecting skeletal growth, bone metabolism, energy expenditure and body composition. Previous st...

Objectives: Adolescent idiopathic scoliosis (AIS) is a complex three-dimensional spinal deformity associated with low bone mass. Our previous clinical trial demonstrated the anabolic bone effect of vibration treatment (VT) at the femoral neck in AIS subjects. The therapeutic effect was more pronounced in those with optimal serum 25(OH) Vit-D level (>40 nmol/l). To investigate possible factor interaction between Vit-D and VT on their anabolic bone effects, this in-vitro...

In children and adolescents with acute lymphoblastic leukemia (ALL), low bone mineral density (BMD) and increased risk of fractures can be observed at diagnosis and/or during treatment.This prospective study was aimed to evaluate BMD and bone turnover in patients with a new diagnosis of ALL, treated with an international protocol (AIEOP BFM ALL 2009) (*), based on high-dose steroids and chemotherapeutic drugs.Inclusion criteria wer...

Background: Hypercalcaemia secondary to malignancy is rare in children and adolescents. Parathyroid hormone related peptide (PTH-rP) secreted by malignant cells increases bone resorption and renal calcium retention causing hypercalcaemia. We report two cases of hypercalcaemia of malignancy refractory to treatment with pamidronate and corticosteroids but responsive to treatment with Denosumab and Zoledronic acid.Case 1: Presenting problem: A 17-year-old b...

Objectives: Within the National Health Service there is a recognised need for supporting young peoples transition into adult services1. Focus groups and forums have historically been used to identify how to achieve ‘good’ transition between services, from the perspective of patients, carers and professionals. A recent article recommended an individualised programme supporting transition for young people with osteogenesis imperfecta (OI)2. The ai...

Aim: To assess the relationships of serum osteoprotegerin (OPG), receptor-activator of nuclear factor-κB ligand (RANKL) and tumor necrosis factor-alpha (TNF-α) superfamily with bone composition in end-stage COPD.Methods: Body and bone composition, serum OPG, RANKL, TNF-α and its receptors (sTNFR I, sTNFR II), TNF-related apoptosis-inducing ligand (sTRAIL) levels were measured in 48 men end-stage COPD accepted for lung transplantation, and ...