Bone Abstracts

Introduction: Gorham disease (GD), also known as Gorham–Stout syndrome, massive osteolysis or disappearing bone disease, is a very rare disease characterized by spontaneous and progressive osteolysis of one or more bones. Its prognosis is highly variable and unpredictable, ranging from minimal disability to death, due to involvement of vital structures, such as the vertebral column and rib cage. Osteoclasts hyperactivity has been suggested as potential pathogenetic abnorm...

Introduction: Resistance to thyroid hormone (RTH) is a rare disease, characterized by elevated thyroid hormone and not suppressed TSH concentrations. In 85% of cases it is related to TRβ gene mutations.Objectives: To evaluate biochemical and densitometric features of 14 patients with RTH (RTHG: 7 females (4 children) and seven males (2 children)) in comparison to 24 control subjects (CG, 14 females (8 children) and 10 males (4 children)).<p clas...

Objectives: Adolescents with motor difficulties may have a higher fracture risk due to limited participation in high impact physical activities that improve bone mineral density (BMD). Equipment constrained resistance training (RT) interventions may be an effective way to improve both muscle strength and BMD in this population. The aims of this study were to investigate the effect of a GYM-based RT intervention on peripheral BMD, and to determine the extent of the relationship...

Multiple factors of risk have been described to the osteoporosis (OSP) and fractures in people infected by human immunodeficiency virus (HIV). Antiretroviral treatment has changed the vital prognosis of these patients, nevertheless seems that antiretroviral treatments can cause a greater loss of bone mineral density (BMD). Experts support the use of densitometry screening for HIV-infected postmenopausal women and men older than 50 years.Objectives: To ev...

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Background: Final stature is a result of concomitant growth hormone (GH)-IGF1 axis integrity, a healthy environment and genetic background. Occasionally, growth occurs despite remarkable impairment in hormone profile. Presenting problem: An uncommon case of longitudinal growth in a boy with very low IGF1 concentrations and clinical diagnosis of osteopetrosis. Clinical management: We report on the case of a 19 year-old male patient with the diagnosis of osteopetrosis who had a ...

Background: Glucocorticoid immune suppression in kidney transplanted children jeopardizes optimal bone health recovery. So far, there are no studies that evaluate the effect of transplant and corticoid in bone parameters separately.Objective: To determine the effect of early corticosteroid withdrawal in bone parameters.Methods: Randomized, controlled study; two groups: corticosteroid withdrawal (at the 6th day post-transplant, then...

Objective: Evaluate the clinical characteristics of all Latin American pediatric patients with Gaucher disease type 1 (GD1) enrolled in the ICGG Gaucher Registry at baseline and investigate long-term outcomes and clinical benefit of prolonged imiglucerase/alglucerase therapy in patients with manifestations of GD1 at baseline.Methods: All Latin American patients with GD1 in the ICGG Gaucher Registry (NCT00358943) who were <18 years of age at the start...

Objectives: Burosumab is an anti-FGF23 fully human monoclonal antibody, recently approved for the treatment of X-linked hypophosphatemia (XLH), presenting a novel treatment approach compared to conventional therapy (CT), composed of oral phosphate and active vitamin D. The objective of this study is to perform a Multi-Criteria Decision Analysis (MCDA) to assess the value of burosumab for the treatment of paediatric patients with XLH in Portugal, in comparison to CT.<p clas...

Context: Variations in sex hormones influence bone health in men. Aging in men is associated with a decrease in testosterone (T) levels.Aims: To examine the relationship between T levels and changes in bone health status as measured by quantitative ultrasound (QUS) at the phalanges and the os calcis and by peripheral bone mineral density (pBMD) at the phalanges in healthy elderly Spanish men.Methods and material: We examined 162 me...