Diagnosis and treatment of Paget's disease of bone: a mini-review.

Paget's disease of bone (PDB) is a chronic progressive disorder of bone metabolism that may go undetected for many years, and endocrinologists should be alert to its clinical signs and promptly diagnose and treat PDB before it results in irreversible complications, such as deformity, fracture or neurological sequelae. Most commonly, PDB is suspected upon the incidental finding of elevated serum alkaline phosphatase levels or a radiographic abnormality in an otherwise healthy individual above 55 years of age. Some of these individuals may have symptoms such as bone pain or enlargement with increased warmth.

Symptomatic intracranial hypertension and prolonged hypocalcemia following treatment of Paget's disease of the skull with zoledronic acid.

Skull involvement in Paget's disease of bone can lead to neurological symptoms, prompting treatment. Intravenous zoledronic acid (ZA) has emerged as an effective and safe treatment option for patients with Paget's, leading to sustained remission and improved quality of life. A previously untreated 61-year-old female presented with 2-year history of facial asymmetry with progressive hearing impairment.

Potential effects of alendronate on fibroblast growth factor 23 levels and effective control of hypercalciuria in an adult with Jansen's metaphyseal chondrodysplasia.

Context: Jansen's metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant disorder caused by activating mutations in the PTH 1 receptor (PTH1R; PTH/PTHrP receptor), leading to chronic hypercalcemia and hypercalciuria. Hypophosphatemia is also a hallmark of JMC, and recently, increased fibroblast growth factor 23 (FGF23) levels have been reported in this syndrome. Hypercalcemia has been associated with increased cardiovascular risk; however, cardiovascular disease has not been extensively investigated in JMC patients.

New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).

A loss of calcium-sensing receptor (CASR) function due to inactivating mutations can cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism (NSHPT). NSHPT represents the most severe expression of FHH and courses as a life-threatening condition. The aim of this study was to identify and characterize a CASR mutation in a female infant brought to the health service due to dehydration, apathy, lack of breast feeding and severe hypercalcemia.

A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type Ia and normal serum calcium and phosphate levels.

The objective of this study was to describe a new mutation in GNAS in a family with pseudohypoparathyroidism type Ia (PHP Ia), a rare osteometabolic disease. An 8-month-old boy was seen by an Endocrinologist due to obesity and low growth velocity. Noteworthy, his mother exhibited typical Albright hereditary osteodystrophy (AHO) phenotype.

Bone quality and osteoporosis therapy.

Although BMD measured by DXA is a useful clinical tool for osteoporosis diagnosis, changes resulting from osteoporosis treatment only partially explain the observed reduction in fractures. Several other bone properties that influence its resistance to fractures and explain this discrepancy have been defined as "bone quality". Bone quality is determined by its structural and material properties and orchestrated by bone turnover, a continuous process of renewal through which old or damaged bone is replaced by a mechanically healthy bone and calcium homeostasis is maintained.

Brazilian normal static bone histomorphometry: effects of age, sex, and race.

Bone histomorphometry values for normal individuals within different populations have been well established. We studied iliac crest bone samples from 125 healthy Brazilian subjects. The effect of sex, race, and age variables on histomorphometric parameters was evaluated.

Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1.

Objective: To characterize clinical features and identify MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1 (MEN1). Settings Non-profit academic centre.

Patients: Fourteen Brazilian families with MEN1 and 141 at-risk relatives.

[Case report: recently diagnosed celiac disease as aggravating factor of osteoporosis in an old woman].

Sixty-three-year-old woman requested medical attention for osteoporosis. Bone densitometry revealed: T(spine (L1-L4))= -3.5 SD [Bone mineral density (BMD): 0.