Bone Abstracts

Backround: Vitamin D dependent rickets type 1 (VDDR-1) is an autosomal recessive disorder caused by 1a hydroxylase enzyme deficiency, that leads to low or undetectable levels of 1,25 dihydroxyvitamin D despite normal levels of 25-hydroxyvitamin D levels. Additional laboratory findings include hypocalcemia and increased levels of parathyroid hormone. Clinically, it presents as early onset rickets and severe hypotonia.Presenting problem: A 6-year-old Cauca...

An IgM monoclonal gammopathy (MGUS) is often the first sign of a lymphomonocytic B-lymphoma (Waldenström macroglobulinemia-WD). Osteolytic lesions can occur in B cell malignancies (WD, hairy cell leukemia, LLC\..) but are less frequent than in myeloma. In addition, bone remodeling in WD is poorly understood. However, an osteoporosis is often observed in MGUS patients. We studied a series of bone biopsies performed in patients with an IgM gammopathy by histomorphometry, mi...

Background: We previously reported that serum periostin levels are determined by additive genetic effects. Whether serum levels and/or SNPs in the periostin gene (Postn) contribute to bone microstructure however remains unknown.Aim: To investigate the association between periostin levels, Postn SNPs, bone-mass and bone microarchitecture in a cohort of postmenopausal women.Methods: A total of 648 postmenopausal women from the Geneva...

Background: Periostin is a matricellular protein involved in bone modeling and remodeling through the modulation of WNT-β catenin signaling in osteoblasts and osteocytes.Aim: To investigate the interaction between polymorphisms of six periostin SNPs and other gene polymorphism involved in periostin expression and activity on periostin serum levels and bone microarchitecture in a cohort of postmenopausal women.Methods: A total ...

Osteogenesis imperfecta is a disorder characterized by bone fragility. Current management includes the usage of bisphosphonates to improve bone stock and manage pain. Outcomes in adults have mainly been reported in terms of presentation compared to genotype, most probably due to the heterogeneity of the disease. The head and neck resection of the femur, or Girdlestone procedure, was a common procedure to treat infections of the hip but it has fallen out of favor due to the adv...