Bone Abstracts

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...

Purpose: Research suggests that dancers are at higher risk of developing low bone mineral density (BMD) compared with the general population. However, the associated factors contributing to low BMD in dancers are not fully understood. We aimed to assess the association of single-nucleotide polymorphisms (SNPs) in the Wnt/β-catenin and oestrogen receptor (ER) signalling pathways with low BMD in dancers.Methods: A genetic association study was conduct...

Lack of extension of the knee and fixed flexion of the knee may occur in patients with arthrogryposis, rheumatoid arthritis, achondroplasia, osteogenesis imperfecta, cerebral palsy and other conditions. They develop a crouch gait and this is an energy non-efficient condition that causes a compensatory flexion deformity of the hip and lumbar lordosis. Recommended treatments have included bracing, physical therapy, posterior release, distal femoral osteotomy or progressive distr...

The regions of the proximal femur that are at greater risk of structural failure during a fall are those with less adaptive protection promoted by mechanical loading of the activities of daily living. Considering the associations between bone geometry of the proximal femur with bone fracture risk, we intended to examine how geometrical characteristics of the proximal femur (FNL, femoral neck length; FNW, femoral neck width; NSA, neck shaft angle) moderate the effect of mechani...

Objectives: To estimate the status of 25-hydroxyvitamin D in healthy Mexican children and to describe factors related to vitamin D deficiency.Methods: A cross-sectional study was conducted in children 2–14 years old in Mexico City and Toluca Edo de Mexico. Trained interviewers applied a questionnaire including all relevant demographics, medical history, sun exposure, sunblock use and skin phototype. Morning fasting blood was collected in all subject...

Objectives: To describe two familiar cases of Hajdu–Cheney syndrome, a rare genetic disorder associated with skeletal dysplasia, craniofacial abnormalities, short stature, acro-osteolysis and osteoporosis.Materials and methods: A 51-year-old woman (case 1) presented in our outpatient clinic with pseudo-clubbing of some fingers and toes. She was short (139 cm) and thin (34 kg). She had facial and cranial abnormalities: thin lips, long philtrum, full ...

Objectives: To describe the response to treatment with teriparatide for osteoporosis associated with Hajdu–Cheney syndrome after a follow-up 2 years.Material and methods: A 51-year-old woman presented in our outpatient clinic with pseudo-clubbing of some fingers and toes. She was short (139 cm) and thin (34 kg). She also had some facial and cranial abnormalities: thin lips, long philtrum, full cheeks, micrognathia, short neck, bushy eyebrows and coa...

The Rab family GTPases Rab27a and Rab27b play an important role in the trafficking of lysosome-related organelles in specialised cells, such as melanocytes. Since secretory lysosomes, also considered a lysosome-related organelle, are important for osteoclast and osteoblast function, we hypothesised that Rab27 plays a role in bone physiology. In support of this, a recent study demonstrated impaired transport of RANK ligand to the plasma membrane in osteoblasts from mice lacking...

Background: Osteoporosis in otherwise healthy children demands thorough study as it may be the first manifestation of an occult illness. When other diseases can be ruled out, juvenile idiopathic osteoporosis (JIO) is the purported diagnosis.PresentationWe report the case of an 8-year -old boy with no personal or family history of chronic disease who presented with sudden ankle pain unrelated to trauma and not responsive to rest and...

Background: Vitamin D (Vit-D) plays a role in calcium metabolism during pregnancy, and studies have found widespread deficiency in this period. Its significance is still not fully understood, although low Vit-D levels have been associated with increased risk for preeclampsia, bacterial vaginosis, neonatal sepsis and early respiratory infections in the infant. Supplementation to the pregnant mother remains a matter of debate; thus, it is important to better understand the cause...