Bone Abstracts

Peak bone mass, typically reached in the third decade, is the highest bone mass acquired after completion of normal growth. Attaining a higher young adult bone mass may contribute to a lower risk of fragility fractures later in life. Few studies have specifically investigated quantitative ultrasound (QUS) in relation to peak bone mass in young adult women. The study objectives were to describe normative QUS values for 25 year old women and how extremes of body weight relate to...

Background: Inherited forms of rickets are metabolic bone diseases developing as a result of inadequate mineralization of a growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Diverse phenotypic presentation and aetiology of these disorders pose difficulties for the diagnosis and management.Objective and hypotheses: The aim of this study was to perform molecular diagnostics and clinically characterize 137 patients with here...

Different results might be registered in DXA assessment in patients with neuroendocrine tumors (NET) since various factors induce bone disturbances as bone metastases, vitamin D hypovitaminosis, etc.Aim: The analyze DXA in NET.Material and method: The patients (p) were evaluated between 2008 and 2013. The diagnosis of NET was histological confirmed. We also included medullar thyroid cancer (MTC) with distance metastases and carcino...

Aim: The aim of the study was to evaluate the usefulness of the fracture risk evaluated through the FRAX® model based only on the clinical risk factors as a screening tool for identify the target population for treatment in osteoporosis.Materials and methods: Two hundred and seventy-six postmenopausal women treatment naive referred to two different endocrinology departments for osteoporosis between 2009 and 2011 were evaluated. The FRAX® model ...

Purpose: To describe the timing and whereabouts of the hip fracture patient at the time of fracture in a population-based setting and to relate these factors with residential and health status, seasonal variation and snow-covered ground.Methods: We consecutively included 486 hip fracture cases (age ≥50 years) admitted to a Swedish Orthopedic Department during a 1-year period. Data concerning socio-demographic details, fall location, time of fractur...

Osteoclast-poor autosomal recessive osteopetrosis is characterised by susceptibility to fracture despite high bone mineral density as a consequence of an absence of osteoclasts. One of the 12 receptor activator of NF-κB (RANK) mutations associated with this condition is a frameshift mutation encoding a protein that is truncated within the extracellular, N-terminal domain (R110Pfs). We investigated the effect of this mutation on osteoclast formation, receptor localisation ...

Background: Noonan syndrome (NS) is a genetic multisystem disorder characterized by distinctive facial features, learning difficulties, short stature, and cardiac defects. Other important findings include skeletal anomalies, especially spinal and chest deformities. Skeletal dysplasia was proven to be secondary to a disorder of RAS-mitogen activated protein kinase (MAPK) pathway which is essential for regulation of cell differentiation and growth including bone homeostasis. We ...

Twelve different mutations in TNFRSF11A (encoding the RANK receptor) have been associated with osteoclast-poor autosomal recessive osteopetrosis in patients. Two truncated RANK proteins resulting from substitution mutations (W434X and G280X), identified in two infants, cause loss of the intracellular oligomerisation motif and in the case of the G280X mutation the TRAF6 binding domain. A third mutation was identified in a 10-year-old patient and is a frameshift mutatio...

Introduction: Atypical markers will provide interesting information in order to assess the bone metabolism. Serotonin has a dual action related to the bone and its serum level is the easiest to use in daily clinical practice also the exact value is not very well described up to this moment.Aim: We correlate to serum levels of serotonin with different results of clinical bone health evaluation in menopausal women.Materials and metho...

In the recent years the role of the skeleton in glucose and energy homeostasis has been studied. In particular the osteoblast-specific protein osteocalcin (OC), in its undercarboxylated form (uOC) has been shown to influence glucose homeostasis in animal models.The aim of our study is to evaluate if the intermittent administration of 1–84 PTH could influence glucose metabolism through its anabolic action on the skeleton.We enr...