Chronic Nonbacterial Osteomyelitis of the Sternocostoclavicular Region in Adults: A Single-Center Dutch Cohort Study.

Sternocostoclavicular hyperostosis (SCCH) is a rare autoinflammatory bone disorder caused by chronic nonbacterial osteomyelitis (CNO), which is associated with sclerosis and hyperostosis primarily affecting the sternum, the medial end of the clavicles, and the first ribs. Other areas of the axial skeleton may also be affected. The more severe synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is additionally associated with dermatoses and joint manifestations.

Increased Risk of Breast Cancer at a Young Age in Women with Fibrous Dysplasia.

Fibrous dysplasia (FD) is a rare bone disorder caused by mutations of the GNAS gene, which are also identified in malignancies. We explored the potential relationship between breast cancer and fibrous dysplasia in two fibrous dysplasia cohorts from the Netherlands and the United States. Data on fibrous dysplasia and breast cancer diagnosis were retrieved from hospital records of 134 (Netherlands) and 121 (US) female patients.

Impact Microindentation: Consistency of Serial Measurements and Alterations in Patients With Paget's Disease of the Tibia.

Impact microindentation (IMI) is a new technique for the in vivo measurement of tissue-level properties of cortical bone in humans. To address issues related to the proper application of IMI in clinical practice and to directly examine cortical bone properties in patients with tibia pathology, we studied 11 subjects without tibia pathology and nine patients with Paget's disease of the tibia in biochemical remission after bisphosphonate treatment. Serial indentations in the tibias of both legs were performed in all subjects by a single operator until 10 adequate measurements were obtained in each tibia.

Longitudinal changes in BMD and fracture risk in orthotopic liver transplant recipients not using bone-modifying treatment.

Osteoporosis is prevalent in end-stage liver disease, but data on long-term changes in bone mineral density (BMD) and related fracture incidence after orthotopic liver transplantation (OLT) are scarce. We evaluated BMD changes up to 5 years in consecutive recipients of a successful OLT at the Leiden University Medical Centre between 2000 and 2011, in whom sequential BMD data were available. Spinal radiographs were available at time of screening and at 6 and 12 months post-OLT and were assessed for vertebral fractures by two independent observers using Genant's semiquantitative method.

Patients with sclerosteosis and disease carriers: human models of the effect of sclerostin on bone turnover.

Sclerosteosis is a rare bone sclerosing dysplasia, caused by loss-of-function mutations in the SOST gene, encoding sclerostin, a negative regulator of bone formation. The purpose of this study was to determine how the lack of sclerostin affects bone turnover in patients with sclerosteosis and to assess whether sclerostin synthesis is decreased in carriers of the SOST mutation and, if so, to what extent this would affect their phenotype and bone formation. We measured sclerostin, procollagen type 1 amino-terminal propeptide (P1NP), and cross-linked C-telopeptide (CTX) in serum of 19 patients with sclerosteosis, 26 heterozygous carriers of the C69T SOST mutation, and 77 healthy controls.

A patient with persistent primary hyperparathyroidism due to a second ectopic adenoma.

Background: A 33-year-old woman presented with recurrent renal stones and malaise to her primary-care physician. Laboratory investigations revealed the patient had hypercalcemia and an elevated serum parathyroid hormone concentration. A diagnosis of primary hyperparathyroidism was established and the patient was referred for parathyroidectomy.