Denosumab treatment for juvenile Paget's disease: results from two adult patients with osteoprotegerin deficiency ("Balkan" mutation in the TNFRSF11B gene).

Context: Most patients with juvenile Paget's disease (JPD) have homozygous loss-of-function mutations in the TNFRSF11B gene resulting in osteoprotegerin deficiency. Because recombinant osteoprotegerin is not available for clinical use, an alternative therapeutic approach could be denosumab, which acts on the same pathway.

Main Objective: The aim was to study the effect of denosumab on bone turnover markers in two adult patients with JPD ("Balkan" mutation) previously treated with calcitonin and bisphosphonates.

Vitamin D deficiency in white, apparently healthy, free-living adults in a temperate region.

Objective: The precise incidence of vitamin D deficiency is not known, primarily because there is no consensus on the optimal levels of serum 25(OH)Vitamin D. The aim of the present study was to determine the incidence of vitamin D deficiency in a large group of normal adult volunteers residing in a typical temperate region. DESIGN-METHODS: In 625 healthy, free living adults (553 women, 72 men, aged 18-85 years), serum 25(OH)Vitamin D and 1-25(OH)2 Vitamin D (RIA), plasma intact PTH (ECLIA) and routine chemistries (multianalyser) were determined at baseline once during a whole year.

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.

The GALNT3 gene encodes GalNAc-T3, which prevents degradation of the phosphaturic hormone, fibroblast growth factor 23 (FGF23). Biallelic mutations in either GALNT3 or FGF23 result in hyperphosphatemic familial tumoral calcinosis or its variant, hyperostosis-hyperphosphatemia syndrome. Tumoral calcinosis is characterized by the presence of ectopic calcifications around major joints, whereas hyperostosis-hyperphosphatemia syndrome is characterized by recurrent long bone lesions with hyperostosis.

Primary malignant fibrous histiocytoma on the thyroid.

A 42-year old white female with a primary Malignant Fibrous Histiocytoma (MFH) is described. The patient was examined for a "cold" nodule of the thyroid diagnosed five years previously. The patient had been on L-thyroxine therapy for three years which was discontinued by the patient 18 months prior to the present visit.