Bone Abstracts

Objectives: Craniosynostosis is a skeletal birth defect, resulting in premature fusion of cranial sutures. The patency of the sutures is essential to enable the growth of the skull in compliance to the developing brain. Mutations in TWIST1 and TCF12 have been identified in patients with Saethre-Chotzen syndrome, which is typically associated with coronal synostosis. Studies in mouse models suggest that the quantity of TCF12-TWIST1 heterodimers is one critical...

Objectives: Hypophosphatasia (HPP) is a rare hereditary disease, leading to deficits in bone and tooth mineralization, muscular as well as neurological abnormalities due to decreased enzymatic activity of the tissue-nonspecific alkaline phosphatase (TNAP, encoded by the alpl gene). In this project, the zebrafish (Danio rerio) will be established as a new and valuable animal model for HPP research. Consequently, endogenous TNAP expression should be analyzed in different zebrafi...

Objective: Bone and muscle deficits are observed in patients with Crohn’s disease (CD). High-impact exercise (HIE), such as jumping based exercise, can provide hypertrophic and osteogenic stimulus, however to date there have been no studies of HIE in CD. This study aimed to assess the acceptability and feasibility of participating in HIE in adolescents and adults with CD.Methods: Two anonymous questionnaires surveyed adolescents and adults, respecti...

Objective: Childhood onset Crohn’s disease (CO-CD) is associated with musculoskeletal deficits. However, there are limited data regarding muscle-bone outcomes in adults with CO-CD. The current study aimed to comprehensively assess the muscle-fat-bone unit in young adults with CO-CD, using novel methods of MRI, in comparison with healthy controls.Methods: Trabecular microarchitecture and cortical geometry of the distal femur were assessed using 3T mi...

Objectives: A role for glucose-dependent insulinotropic polypeptide (GIP) in controlling extracellular bone matrix deposition and maturation has previously been evidenced in GIP receptor knock-out mice. However, as the GIP receptor is expressed in several tissues other than bone it was difficult to ascertain whether the modifications of extracellular bone matrix were due to direct effects on osteoblasts or indirect through regulation of signals originating from other tissues. ...

Overall cure rates for childhood acute lymphoblastic leukemia (ALL) have improved allowing the cure of over 85% of patients. At least 70% of survivors of childhood ALL cancers have substantial morbidities as a result of their treatment. There is evidence that survivors of ALL have increased rates of long-term skeletal muscle dysfunction and weakness. Our objective was to determine the percentage of patients with muscle dysfunctions (muscle force, power, endurance, and % of fit...

Strontium ranelate (SrR) is now widely used for the prevention of osteoporotic fractures. The mechanisms by which this occurs, however, remain unclear. We investigated the actions of Sr2+ salts in bone-forming cultures of primary osteoblasts from rat calvariae. Osteoblasts were treated continuously with either SrR or SrCl2 for 14 days. Abundant, discretely mineralised ‘trabecular’ bone structures formed in alizarin red-stained control cultures. ...

Young transsexuals at a minimum age of 12 years are treated with GnRH-analogues (GnRHa) to suspend pubertal development until the addition of hormones of the desired sex is started at a minimum age of 16 years. The effect of this treatment on adult bone mineral density (BMD) is still unknown. We aimed to assess BMD at the age of 22, as this is near its peak in healthy individuals.In this prospective observational study 19 female to male (FtM) and 16 male...

Objectives: A role for glucose-dependent insulinotropic polypeptide (GIP) in controlling bone mass and strength has previously been reported. However, the rapid degradation of GIP in the bloodstream by the dipeptidyl peptidase-4 enzyme precludes therapeutic use. To circumvent this problem, a series of N-terminally modified GIP agonists have been developed. The aim of the present study was to investigate the effects of 28-day treatment with N-AcGIP on bone microarchitecture and...

Objective: Minimally invasive parathyroidectomy (MIP) has become a frequently used strategy but it requires a precise preoperative localization and the use of intraoperative PTH to fulfill its benefits. The current localization techniques (ultrasonography, MIBI scan) have shortcomings and intraoperative PTH is not available in our country.Case presentation: We report the cases of two patients, females (63 and 55 years old), with clinical and biochemical ...