Bone Abstracts

Objectives: We recently identified a heterozygous missense mutation c.652T→G (p. C218G) in WNT1 as the cause of severe primary osteoporosis (Laine et al. New Engl J Med 2013). The mutated WNT1 reduces activation of the canonical WNT1/β-catenin-signaling, resulting in decreased osteoblastic function. The mutation was originally identified in a large Finnish family presenting with dominantly inherited, early-onset osteoporosis, with affected...

Objective: To determine differences between osteoarthritic (OA) knees with normal knees for subchondral trabecular bone structure according to depth and location in the tibial plateau.Methods: In a population of 30 cadaveric left knees (18 women and 12 men, mean age: 79.1 years±8.2, range: 63–90) the Kellgren-Lawrence (KL) score was determined from post mortem radiographs: OA=KL≧2 (n=6 women, n=5 men) and controls=KL &#8804...

Background: X linked hypophosphataemic rickets is the commonest cause of renal phosphate wasting, however sporadic cases may warrant additional investigations to exclude less common causes, as exemplified by our case.Presenting problem: A 3 year 7 month boy was referred for assessment and ongoing management of rickets and short stature (height less than 1st %.) He originally presented with leg bowing and waddling gait from the age of 12 months...

Background: Nutrition is a cornerstone of child health. Appropriate nutrient intake contributes to bone health, relevant to conditions of bone fragility. Nutrient intake in chronic conditions can be adversely affected by altered dietary behaviours such as mealtime behaviour and food choice. Dietary behaviour and nutrient intake have not been explored in children with Osteogenesis Imperfecta (OI), the commonest cause of children’s bone fragility.Aim:...

For a reliable assessment of bone’s material quality in a clinical environment, a fast way to measure the mechanical properties of bone is needed. The investigation of material heterogeneity and anisotropy resulting from bone remodeling and mineralization requires an imaging technique with micrometer resolution. Scanning acoustic microscopy (SAM) using high-frequency lenses allows measuring the stiffness of bone under wet conditions in a non-destructive way with this spat...

Radiation therapy is one of the most effective and indispensable treatment modalities for cancer patients. Known tissue complications caused by radiation-induced stem cell depletion, may result in structural and functional alterations of the surrounding matrix. Although, studies have demonstrated that ionizing radiation can induce apoptosis and senescence, little is known about the effects of therapeutic irradiation concerning the commitment of mesenchymal stem cells to the os...

Astronauts on exploratory space missions will experience a complex environment that includes microgravity and radiation. While the deleterious effects of unloading on bone are well established, fewer studies have focused on the effects of radiation. Space radiation produces distinct biological damages which, up to now, little is known about the correlation between radiation exposure and bone tissue. In our study we used osteoblastic precursor cells to investigate the radiation...

see PP288....

Osteoblastic MMPs are important actors of bone remodeling. We showed previously that osteoblast specific overexpression of TIMP1, an inhibitor of MMPs, prevents the bone loss induced by ovariectomy mainly through inhibition of bone resorption. We hypothesized that inhibition of the MMP3 could be implicated in the protective effect of TIMP1 and that MMP3 polymorphisms located in the proximal promoter of MMP3 gene could be associated to post-menopausal bone loss in women.<p ...

Objectives: Hypophosphatasia (HPP) is a rare metabolic disease caused by loss-of-function mutation(s) in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). HPP in infants is characterized by poor skeletal mineralization, respiratory compromise, and a high risk of mortality. We previously reported improved mineralization and respiratory function in 15 patients enrolled in this second study of asfotase alfa, a bone-targeted recombinant human TNSALP, in infants a...