Bone Abstracts

High fat diet (HFD), obesity, and physical inactivity characterize the modern lifestyle. This can lead to coronary heart diseases and type 2 diabetes mellitus. Recent studies have shown that these conditions frequently are associated with poor bone quality. However, the molecular mechanisms are poorly understood. To analyze the effect of HFD and exercise (EX) on bone homeostasis, we fed 6 week-old C57BL/6 mice a high fat (60% fat) or standard chow diet for 10 weeks (10-20 mice...

Background: Peroxisomal Biogenesis Disorders (PBD) is a group of rare metabolic diseases in which peroxisomal function is disrupted. PBD encompasses Zellweger Syndrome Spectrum (ZSS) disorders, which range in severity from classical ZS with severe neurological impairment and markedly reduced life expectancy to Refsum Disease presenting later in childhood. Recent fragility fractures in our ZSS patients in very early childhood prompted case series review.P...

Total hip arthroplasty (THA) is the treatment for severe hip osteoarthritis. It improves the quality of life, pain and patient autonomy. However, a periprosthetic resorption may occur, in 3–5% of patients after 10 years of the primary surgery requiring implant replacement. Bisphosphonates (BP), inhibitors of bone resorption, represent a potential candidate for modulating periprosthetic bone loss. Randomized controlled trials have also suggested that BP could prevent early...

Although Vitamin D deficiency is the most common form of rickets worldwide, when there is a failure to respond to cholecalciferol, inborn errors of vitamin D metabolism should be considered. We describe two unrelated individuals who presented with early onset rickets characterised by reduced serum levels of 25(OH)D and 1,25(OH)2D, and a deficient response to Vitamin D2/D3 and calcitriol. Case 1: A Caucasian Australian girl with non-consanguineous parents ...

Objective: Autism Spectrum Disorder (ASD) is associated with lower bone mass in children. Physical activity and nutrition influence bone pathophysiology, and differences in these lifestyle factors are observed between children with vs. without ASD; however, whether these factors contribute to bone differences is unknown. We examined if: 1) differences existed in bone mineral density (BMD), content (BMC), or bone geometry in boys with vs without ASD and 2) whether physical acti...

Background: Hypercalcaemia is a risk following stem cell transplant (SCT) for all types of autosomal recessive osteopetrosis (ARO) due to restored osteoclast differentiation. This can be particularly severe in the osteoclast-poor (OP) form involving the tumour necrosis factor receptor superfamily 11A (TNFRSF11A) gene, encoding RANK. Denosumab, a monoclonal antibody blocking RANK activation, has been described for refractory post-SCT hypercalcaemia in two cases. Our case adds n...

Objectives: Asfotase alfa (AA), an enzyme replacement therapy, is the only approved treatment for pediatric-onset hypophosphatasia (HPP). We evaluated the safety profile of AA from the clinical trial program spanning pediatric and adult patients.Methods: Safety data were pooled from 4 open-label, multicenter studies in children aged ≤3 years (study 002/003 [NCT00744042/NCT01205152]; n=11) and ≤5 years (study 010-10 [NCT01176266]; <em...

Primary hyperparathyroidism is extremely rare in childhood and adolescence. Here we report a clinical case of a 15-year-3-month-old boy who began 2 years before with pain in his knees, genu varum, and fatigue. Physical examination showed severe genu valgum with an inter-malleolar distance of more than 30 cm. Biochemical tests showed hypercalcemia (12.2 mg/dl), hypophosphatemia (2.3 mg/ dl), hypercalciuria (6.4 mg/kg per day), high alkaline phosphatase (2812 IU/l), low 25-hydro...

It is well known that osteoporotic fragility fractures are an important risk factor for subsequent new vertebral and non-vertebral fractures. Many countries published recommendations to prevent fractures. Also in Italy the Minister of the Health highlighted the importance to prevent osteoporosis and the subsequent fractures, without practical instructions on the management of patients with fragility fractures in the daily clinical practice. Up to date there is no standardized ...

Osteoclasts are giant multinucleated skeletal cells of hematopoietic origin primarily responsible for bone resorption. Their functional impairment disturbs bone homeostasis and, to a variable extent, a number of other processes, such as growth, hematopoiesis and immune function. The accumulation of bone tissue owing to failure in bone resorption results in increased bone density, which is the hallmark of osteopetrosis (OP), a heterogeneous group of monogenic disorders with aut...