Bone Abstracts

The aim of management is to normalize serum calcium and reduce PTH levels, leading to improvement in any associated symptoms. Parathyroidectomy (PTx) is the only curative treatment and should be recommended for PHPT patients with symptomatic disease, but also considered in asymptomatic patients who meet surgical criteria defined by international guidelines. Studies of the natural history of asymptomatic PHPT indicate that in the absence of PTx some patients show stability in s...

Introduction: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal tubular disease caused by mutations in Claudin 16 and 19 genes, often complicated by progressive renal failure. We describe the clinical and genetic features and management of this condition in three patients at our centre.Case 1: A 3-year-old south Asian boy with consanguinity presented with hypocalcemic seizures. Investigations revealed h...

We studied changes in intracellular Ca2+ concentration in bone cell cultures obtained from human subjects with osteoporosis and osteoarthritis, to evaluate differences between these patients and healthy subjects. We enrolled 36 patients: 12 undergoing primary total hip arthroplasty for osteoporotic femoral fractures (group A, mean age range 57–80), 12 for hip osteoarthritis (group B, mean age range 57–80), and 12 healthy subjects who suffered a high-energy...

Objective: The purpose of this study was to verify the influence of age, body mass and stature on the functionality level of children with Osteogenesis Imperfecta (OI). METHODS: Thirty-eight children (8.21±4.26 years, 19 girls and 52.6% OI type III) were evaluated during their hospitalization for Pamidronate intravenous infusion in the Brazilian Midwest reference hospital for OI treatment (University Hospital of Brasília). Body weight and stature were measured and ca...

Objective: To characterize a group of children with Osteogenesis Imperfecta (OI) followed up at the University Hospital of Brasília (HUB), Brazil.Methods: Data were collected with children and adolescents that were hospitalized in the HUB for intravenous pamidronate infusion treatment. This hospital is an OI reference center of the Midwest region in Brazil. The sample consisted of thirty-eight subjects, of which 50% were female. 52% of the children ...

Objectives: This study aimed to correlate handgrip strength and functionality of children with Osteogenesis Imperfecta (OI).Methods: Thirty-eight children and adolescents with different types of OI were single-timed evaluated during their hospitalization for pamidronate intravenous infusion at the University Hospital of Brasília, Brazil. This hospital is the Brazilian Midwest reference for OI treatment through the national health system. These child...

Osteonecrosis of the jaw (ONJ) has been recently described after i.v. administration of amino-bisphosphonates and – less frequently – in association with the use of oral bisphosphonates. Bisphosphonate-related osteonecrosis of the jaw (BRONJ) may affect mandible bone (65%), maxilla bone (26%) and rarely (9%) both sites simultaneously. Although causality may never be proven, emerging experimental data have established a strong association between monthly i.v. bisphosp...

Objective: Rett syndrome (RTT) is an X-linked neurodevelopment disorder. More than 95% of RTT female have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. Specific MECP2 mutations may lead phenotypic variability and different degrees of disease severity. It is known that low bone mass is a frequent complication of subjects with Rett syndrome. This study aimed to investigate if specific MECP2 mutations may affects the degree...

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Sclerostin (SCL) and FGF23 are osteocyte-secreted factors with a major role in bone homeostasis. Despite their skeletal effects and their association with fracture risk in some studies, variations in circulating levels were also described in patients with diabetes (DM), chronic renal failure (CRF) and/or cardiovascular disease (CVD). In order to provide further insight on the relationship between these osteocyte-derived factors, osteoporosis and cardio-metabolic disorders we a...