Bone Abstracts

Background: Osteoporosis-pseudoglioma (OPPG) syndrome is an autosomal recessive disorder characterised by severe juvenile osteoporosis and congenital or infancy-onset visual loss. OPPG is caused by loss of function mutations in LDL receptor-related protein 5 (LRP5) gene. We present a 13-year-old child with a homozygous mutation in LRP5 and low bone mass but without visual loss.Presenting problem/clinical management: This child presented with multiple low...

Introduction: Heterotopic ossification (OH) is a rare condition characterized by the presence of extra-skeletal ossification; in most cases OH is due to the inactivation of the gene of guanine nucleotide-binding protein alpha-stimulating activity polypeptide (GNAS). In some cases they remain confined to skin and subcutaneus tissues (osteoma cutis, Albright hereditary osteodystrophy (AHO), pseudohypoparathyroidism type 1a and c (PHP1a/c), and pseudopseudohypothyroidism (PPHP)),...

Background: This case illustrates the longitudinal improvements quantified by serial bone mineral density scans in an adolescent female with juvenile idiopathic osteoporosis treated with pamidronate.Presenting problem: The girl in question presented at 11 years and 10 months with a 5-month history of increasing back pain. A MRI scan prior to referral had indicated vertebral collapse and osteopenia. She had no medical, social or developmental history of n...

Background: Osteoporosis in otherwise healthy children demands thorough study as it may be the first manifestation of an occult illness. When other diseases can be ruled out, juvenile idiopathic osteoporosis (JIO) is the purported diagnosis.PresentationWe report the case of an 8-year -old boy with no personal or family history of chronic disease who presented with sudden ankle pain unrelated to trauma and not responsive to rest and...

Background: Activating mutations in the calcium sensing receptor can result in severe hypoparathyroidism with symptomatic hypocalcaemia. Complications of treatment with calcitriol or alfacacidol include hypercalciuria, nephrocalcinosis and renal failure. The use of synthetic parathyroid hormone (PTH 1–34, teriparatide) provides a more physiological treatment option and reduces the risk of hypercalciuria.We report our experience with such a patient w...

Blood vessels and bone display spatial and functional relationships. While the coupling of angiogenesis to bone formation during modeling situations is well documented, the vessels roles in bone remodeling, although widely acknowledged, remain poorly explored. In order to image and quantify the bone vessel network in rodents, we contrasted the vascular bed with barium sulfate, followed by histology or either conventional or synchrotron radiation micro-computed tomography. We s...

Bone marrow lesions (BMLs), previously denoted bone marrow edema are detected as water signals on MR scans (low intensity on T1 weighted images and high intensity on T2 weighted scans). Previous histologic studies were unable to demonstrate any edematous changes at the tissue level, which led us to hypothesize that the water signal stems from increased vascularization accompanying a high turnover state in bone. To test this hypothesis we performed tetracy...

Rheumatoid arthritis (RA) is marked by the persistent inflammation and osteodestruction, causing progressive disability. Osteoclast progenitors (OCPs) represent a subpopulation of peripheral blood monocytes and have been shown to be present in healthy subjects and arthritic patients. The aim of our study was to determine the phenotype, frequency and osteoclastogenic potential of OCPs in the peripheral blood and synovial fluid of RA patients in response to anti-TNF therapy....

The analysis of intact parathyroid hormone (PTH) (PTH1–84) is useful in the diagnosis of hyper- and hypocalcaemia, hyperparathyroidism, and in the prevention of bone mineral disorders in renal patients. However, the analysis is complicated by the presence of PTH fragments. These are especially prone to accumulation in renal failure, and cross-react differently with different immunoassays, including the most recent, third-generation immunoassays. As such, large variability...

Context: Impairment of muscle function and strength in patients with primary hyperparathyroidism (PHPT) is rarely addressed although decreased muscle function may contribute to increased fracture risk in PHPT.Objective: We aimed to assess changes in muscle strength, muscle function, postural balance, quality of life (QoL), and well-being during treatment with vitamin D or placebo before and after parathyroidectomy (PTX) in PHPT patients.<p class="abs...