Bone Abstracts

The massive amount of genetic information made available by next generation sequencing (NGS) has already changed our clinical and scientific approach to skeletal disorders. As one consequence the gap between rare monogenic disorders and common complex disorders is becoming more permeable. On the one hand this is due to the finding that rare variants with larger effect sizes also have significance for common disorders. On the other hand, broader testing strategies reveal a cons...

Quantitative Computed Tomography (QCT) can be performed with different protocols. We investigated whether selection of spatial resolution, reconstruction method, and scanner type have an impact on measured treatment effects for different bone compartments.Methods: In a multi-center study, a group of 50 men, age 55.1 (range 25–78) undergoing 18 months of either osteoanabolic (n=25) or antiresorptive treatment (n=25) were scanned wit...

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...

Background and objective: High-resolution magnetic resonance imaging (hrMRI) can assess trabecular bone microarchitecture but the number of image slices required for reliable assessment is unclear.Methods: MRI was performed just below the growth plate of the proximal tibia from 20 healthy controls (all female; median age 21 years (range 18–35) and 10 cases (three mals: seven females; median age 19.5 years (range 16–48) with known bone abnormali...

Background: Atypical femur fractures (AFF) arise in the subtrochanteric and diaphyseal regions. Because of this unique distribution, we hypothesized that patients with AFF demonstrate specific geometrical variations of their femur whereby baseline tensile forces applied to the lateral cortex are higher and might favor the appearance of these rare stress fractures, when exposed to bisphosphonates.Methods: Subjects who sustained AFF, as defined by the ASBM...

Milk fat globule-epidermal growth factor 8 (MFG-E8) is a glycoprotein that controls the engulfment of apoptotic cells and exerts anti-inflammatory effects. It has been implicated in the pathogenesis of several diseases, but its role in the bone microenvironment is still unknown. Here we tested the hypothesis that MFG-E8 also regulates bone metabolism and the development of arthritis.MFG-E8 expression was detected in mouse bones and primary murine osteobl...

Osteogenesis imperfecta is a clinically heterogeneous heritable connective tissue disorder. Most OI cases are due to mutations in type I collagen genes, COL1A1 and COL1A2 encoding the pro-alpha1(I) and pro-alpha2(I) chains respectively. However, genotype-phenotype correlation has not been completely elucidated yet. In this study we evaluated a familial case including a mother and a daughter, classified as OI type I. The daughter had more severe clinical featu...

Introduction: In spite of the frequent encounter of ‘asymptomatic’ primary hyperparathyroidism (PHPT), the patients often describe various relevant improvements postoperatively suggesting a subclinical biological effect of elevated PTH or hypercalcaemia.Materials and methods: To evaluate muscle function, postural stability, and quality of life (QoL) in untreated PHPT, we assessed maximal isometric muscle strength in upper and lower extremities,...

Rural to urban migration is associated with adverse metabolic consequences, but its effect on osteoporosis risk is unclear. We investigated associations between rural to urban migration and bone mineral density (BMD) after accounting for changes in body composition. A cross sectional analysis was performed of rural–urban migrants (RUM) matched with rural non-migrated (RNM) siblings, plus a separate sample of urban-non-migrants (UNM). Participants (n=764, 54% male...

Introduction: Bisphosphonates are the first-choice treatment for osteoporosis. However, the efficacy observed in clinical trials may not be realized in a real-life setting, partly due to poor adherence to therapy, with a significant worsening of clinical outcomes. The aim of this study conducted on an outpatient cohort is to quantify the adherence to the osteoporosis treatment in real practice setting and to identify the factors that may affect it.Materi...