Bone Abstracts

In type 2 diabetes mellitus (T2DM) patients, an increased fracture risk is observed, although the bone mineral density is even higher than in non-diabetic patients. This raises the question of the quality of the organic and inorganic matrix in bone1–3. T2DM is also known to forward dysfunctions in the development of soft tissues such as brittle skin due to cross-linking of the collagen or inflammation of the gingiva. For the latter, a possible influence of diab...

Spatial distributions of major and minor chemical elements are supposed to change during tissue maturation and due to bone diseases. Previous studies suggested that osteocytes have the ability to interact with the bone matrix of their environment. For this interaction osteocytes make use of the big inner surface of the osteocyte lacuno-canalicular network (OLCN) in which they are accommodated. The aim of this study was to quantify spatial correlations between the elemental com...

In type 2 diabetes mellitus (T2DM) patients, an increased fracture risk is observed, although the bone mineral density is even higher than in non-diabetic patients, which raises the question of the quality of the organic and inorganic matrix in bone1,2. T2DM is also known to favor inflammation of the gingiva and paradontosis in general. However, little is known about the mineral nano-architecture in the mandible and about the possible influence of diabetes. Using sy...

The transplantation of autologous bone graft represents the ‘gold standard’ treatment for large bone defects, despite the harvesting co-morbidity and limited availability. An alternative scaffold-based approach is presented. Our aim was to investigate to what degree structured scaffolds alone, or in combination with biological stimuli, allow guiding tissue regeneration. Scaffolds consisting of medical-grade polycaprolactone and tricalcium phosphate microparticles, co...

Background and methods: Pigment epithelium-derived factor (PEDF) is a potent antiangiogenic factor, ubiquitously expressed and secreted in human tissues. Hypertrophic cartilage and osteoblasts express PEDF that binds to type I collagen and glycosaminoglycans in the extracellular matrix. Two rare forms of osteogenesis imperfecta (OI) with intact collagen synthesis are associated with PEDF deficiency. Histological observations revealed excessive osteoid formation and prolonged m...

Rickets and osteomalacia are caused by calcium deprivation, meaning the body has insufficient calcium supply and the resulting secondary hyperparathyroidism leads to excessive bone resorption and, via renal phosphate wasting, also to hypomineralization of bone and growth plates. The two main environmental causes of calcium deprivation are dietary calcium deficiency and solar vitamin D deficiency. The environmental nature of rickets and osteomalacia is undisputed. On a global s...

Objective: Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterized by bone mineralization defects and osteomalacia, as well as systemic manifestations, including seizures, respiratory insufficiency, muscle weakness, nephrocalcinosis, and pain. The biochemical hallmark of HPP is low serum alkaline phosphatase, resulting from loss-of-function mutations in the gene encoding tissue non-specific alkaline phosphatase. HPP presents a broad spectrum of disease seve...

Objectives: Limited data exist on growth parameters in children with hypophosphatasia (HPP), a rare metabolic disease characterized by impaired bone mineralization. We aimed to describe growth characteristics in untreated children with HPP enrolled in the Global HPP Patient Registry.Methods: Children (<18 years old) with a diagnosis of HPP who were not receiving enzyme replacement therapy with asfotase alfa at the time of evaluation were identified f...

Introduction: Hypophosphatasia (HPP) characterized by reduced mineralization occurs from mutations in the tissue non-specific alkaline phosphatase (ALPL) gene. Individuals harbouring bi-allelic mutations are generally reported to be severely affected. We report the findings of in vitro functional studies following site-directed mutagenesis in bi-allelic mutations causing extreme clinical phenotypes; severe perinatal and asymptomatic HPP.Objectiv...

Vertebral fracture assessment (VFA) by DXA is an accepted tool in adults. However, its use in children has not been validated. The aim of this study was to validate VFA using iDXA against spinal radiographic assessment (RA) for the identification of vertebral fractures in children.Spine radiographs and VFA (L5–T2) by GE-iDXA were acquired on the same day in 80 children. Forty children were considered high-risk for fracture as their metabolic bone sp...