Bone Abstracts

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...

Bone is constantly being molded and shaped by the action of osteoclasts and osteoblasts. A proper equilibrium between both cell types metabolic activities is required to ensure an adequate skeletal tissue structure, and it involves resorption of old bone and formation of new bone tissue. It is reported that treatment with antiepileptic drugs (AEDs) can elicit alterations in skeletal structure, in particular in bone mineral density. Nevertheless, the knowledge regarding the eff...

Despite its rigid structure, bone is a dynamic tissue that is in constant remodeling. This process requires the action of the bone-resorbing osteoclasts and the bone-synthesing osteoblasts. One of the adverse effects attributed to some antihypertensive agents is the ability to alter normal bone metabolism. However, their effective actions on human bone cells remain to be clarified. In this work, the effects of five calcium channel blockers, a class of antihypertensive drugs (A...

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...

Background: Stuve–Wiedemann syndrome (SWS, OMIM 601559) is a severe autosomal recessive condition characterized by bowing of the lower limbs with cortical thickening, wide metaphyses, abnormal trabecular pattern and camptodactyly. Additional features include dysautonomia symptoms with temperature instability, respiratory distress and sucking/swallowing difficulties in the first months of life.Most SWS cases do not survive beyond the first y...