Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues and to a wide phenotype of clinical features that vary in severity and age of onset. The rarity of the disease and its variable presentation to multiple specialities often leads to misdiagnosis and inappropriate variability in investigations and treatments. To address this, our international consortium of clinicians, researchers, and patients’ advocates has developed pragmatic clinical guidelines for best clinical practice for the definition, diagnosis, staging, treatment and monitoring for FD/MAS to empower patients and support clinical teams in both general and specialised healthcare settings. With the lack of strong evidence to inform care, the guidelines were developed based on review of published literature, long-standing extensive experience of authors, input from other healthcare professionals involved in the care of FD/MAS patients and feedback from patients and patient groups across the globe. This has led to the formulation of a set of statements to inform healthcare professionals, patients, their families, carers and patient groups of the best practice of care. It is anticipated the implementation of these recommendations will lead to improvement in the care of patients with FD/MAS internationally. Electronic supplementary material The online version of this article (10.1186/s13023-019-1102-9) contains supplementary material, which is available to authorized users.

. Familial benign hypocalciuric hypercalcaemia (FHH) results from a heterozygous inactivating mutation of the calcium‐sensing receptor (CaR) and is characterized by hypercalcaemia, hypocalciuria and inappropriately normal plasma levels of parathyroid hormone. In a minority of patients, a loss of function mutation of the CaR results in severe hypercalcaemia associated with complications for which no effective surgical or medical treatment is available. We investigated the effects of the calcimimetic agent cinacalcet, an allosteric modulator of the CaR, in a 26‐year‐old man presenting with hypercalcaemia due to a de novo inactivating mutation of the CaR. Complicating features were recurrent psychosis and progressive severe osteoporosis. A single dose of either 30 or 60 mg of cinacalcet resulted in a 63–88% decline in plasma parathyroid hormone levels within 2 h of administration of the agent, reverting to baseline levels after 12 h. Normalization of serum calcium was more gradual but sustained for up to 12 months of treatment with a maintenance twice‐daily oral dose of 60 + 30 mg cinacalcet. In addition to its beneficial effects in primary and secondary hyperparathyroidism, cinacalcet may open new therapeutic avenues in the management of a subset of patients with severe hypercalcaemia due to inactivating mutations of the CaR.

BackgroundManagement of fibrous dysplasia of the proximal femur is a progressive, often recurrent condition of bone that can cause skeletal deformity, fractures, and pain. Allogeneic cortical strut grafting to minimize the risk of fracture or as part of fracture treatment is a promising treatment option, but evidence is scarce on the intermediate- to long-term results of this procedure and there are no data on factors associated with graft failure.Questions/purposesThe purposes of this study were (1) to evaluate the revision-free survivorship; (2) radiographic findings; (3) factors associated with failure; and (4) complications associated with cortical strut allograft to prevent or treat fractures of the proximal femur in patients with fibrous dysplasia.MethodsBetween 1980 and 2013 we performed cortical strut allografting in 30 patients for impending or actual fractures of the proximal femur, of whom 28 (93%) were available for followup at a minimum of 2 years (mean, 13 years; range, 4–37 years) and of whom 22 (73%) had also been evaluated within the last 5 years. During that time, the indications for cortical strut allografting were an impending fracture of the proximal femur, persistent pain, or an actual nondisplaced femoral fracture. In patients who presented with a diaphyseal fracture, a fracture with severe dislocation of severe varus deformity, which required an osteotomy, placement of a blade plate was instead performed and these patients are not included here. During that time, for patients with diaphyseal fractures, and in patients with a displaced femoral fracture of the proximal femur, placement of a blade plate without strut grafting was instead performed; these patients are not included here. The primary outcome was the success rate of allogeneic cortical strut grafting surgery as assessed by the absence of revision surgery for a newly sustained fracture, resorption of the graft, or progressive deformity of the proximal femur. The association of possible contributing factors to graft failure such as gender, age at surgery, preoperative fracture, and anchoring distances of the graft in healthy bone was also evaluated using Cox regression analysis.ResultsRevision surgery was performed in 13 patients, resulting in a mean survival time of 13 years (Kaplan-Meier 95% confidence interval [CI], 10–16). Radiological resorption of the graft was observed in 15 of 28 patients (54%). However, revision surgery was not performed in all patients who developed graft resorption, because of the absence of a risk for fracture on the basis of the anatomical site of resorption. Identified risk factors for graft failure included preoperative fractures (hazard ratio [HR], 4.5; 95% CI, 1.2–17.2; p = 0.028) and insufficient proximal anchoring of the graft in healthy bone (HR, 6.02; 95% CI, 1.3–27; p = 0.02). One patient sustained a refracture after surgery resulting from an in-hospital fall. The fracture was treated without further surgery, and it healed.ConclusionsOur findings from this study suggest that cortical strut all...

Addition of ZA to neoadjuvant chemotherapy did not improve pathological or clinical response to chemotherapy. Further investigations are warranted in postmenopausal women with BC, since this subgroup might benefit from ZA treatment.

1. We have examined the relationship between broadband ultrasound attenuation in the os calcis and measurements of bone mineral in the distal forearm and lumbar spine of normal and postmenopausal osteoporotic women. 2. Values of broadband ultrasound attenuation in postmenopausal women with vertebral osteoporotic fractures were significantly lower (35%) than in normal pre- and peri-menopausal women (55.4 +/- 3.8 and 79.6 +/- 0.8 dB/MHz, respectively). 3. Broadband ultrasound attenuation correlated significantly with bone mineral content measured in the distal forearm by single-photon absorptiometry (r = 0.77, P less than 0.0001) and with bone mineral content (r = 0.66, P less than 0.0001) and bone mineral density (r = 0.72, P less than 0.0001) measured in the lumbar spine by dual-photon absorptiometry. 4. Although significant, these correlations are not sufficiently close to be predictive. However, the accuracy of broadband ultrasound attenuation in discriminating between normal subjects and patients with vertebral fracture compared very favourably with direct measurements in the spine by dual-photon absorptiometry. 5. Broadband ultrasound attenuation, but not the other measurements, correlated significantly with age in the osteoporotic patients (r = 0.50, P less than 0.05). 6. These findings may reflect the partial dependence of broadband ultrasound attenuation on the intrinsic trabecular architecture of cancellous bone, the disruption of which contributes to an increase in fracture risk.