Bone Abstracts

Background: Metaphyseal Chondrodysplasia, Schmid Type(MDS) is a rare autosomal dominant disorder characterized by short stature, coxa vara and bow legs, with radiographs showing diffuse metaphyseal flaring and irregularity of tubular bones. We report a family with MDS from Sri Lanka, where diagnosis was made on family history and typical radiographic features.Presenting problem: A 5-year-old girl presented with asymmetrical bowing of lower limbs since 2&...

Patients with Duchenne muscular dystrophy (DMD) carry a mutation in the dystrophin gene that leads to progressive muscle degeneration. In addition, DMD patients develop low bone mass especially in long bones and have high incidence of fractures. The underlying mechanisms for decreased bone mass remain unclear but muscle weakness and increased IL6 levels may play a role. Inhibition of activin/myostatin pathway has emerged as a novel approach to increase muscle mass and strength...

Background: DXA scan has for many years been gold standard when analyzing areal bone mineral density (aBMD) in osteoporotic patients. Risk of fractures increases as aBMD declines. However, although risk of fracture is highest in patients with osteoporosis, it is well known that the majority of fragility fractures actually occur in patients with osteopenia rather than osteoporosis. As aBMD is a projected two dimensional imaging technique it does not differentiate between cortic...

Background: Hypercalcemia in childhood is rare, can be of various origin and might go unrecognized until severe signs appear. We demonstrate hypercalcemia of different causes in two infants.Case no 1.: 5-month old girl with failure to thrive, constipation, muscle hypotonia, dehydration, where total calcaemia peaked to 4.25 mmol/l. Low calcium diet, application of glucocorticoids and furosemide resulted in a drop in calcaemia to values below 3 mmol/l and ...

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...

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,...

Purpose: To test whether bisphosphonates for osteoporosis reduce the risk of breast cancer.Background: Observational studies and meta-analyses find that women taking bisphosphonates have about a 1/3rd reduction in risk of breast cancer as soon as 1 year of treatment. This is plausible because bisphosphonates have in vitro anti-tumor activity and high doses of zoledronate reduce recurrence in women with breast cancer. However, observational studi...

Prolyl hydroxylase 2 (PHD2) regulates hypoxia-inducible factor α (HIFα) transcription factors and thus, erythropoietin (EPO) production. Under normoxic conditions, HIFα is constantly inactivated through hydroxylation by PHD2. Due to the embryonic lethality of PHD2 knock-out mice, its precise role in erythropoiesis and tissue homeostasis has long remained unknown. Recently, we generated a conditional knock-out (cKO) mouse lacking PHD2 in EPO-producing cells. Thes...

Type 2 diabetes mellitus impairs bone quality and increases fracture risk. We showed that diabetic ZDF rats have low bone mass due to impaired osteoblastogenesis, which can be partially reversed with an intermittent parathyroid hormone 1–84 (PTH) therapy. It remains unclear, why PTH treatment does not fully restore osteoblast (OB) function in diabetic conditions. Here, we tested if high glucose (HG) conditions lead to a partial PTH resistance in osteoblasts. Pre-osteoblas...

While the importance of interactions between bone and tumors is well-established, the mechanism by which the physical bone microenvironment regulates disease progression is limited by the lack of suitable in vitro models. We have designed 3D Tissue Engineered Constructs (TECs) using microCT imaging in tandem with inkjet 3D printing technology that recapitulate the mechanical and morphometric properties of trabecular bone. 3D-printed TECs exhibited no significant diffe...