Bone Abstracts

Objectives: Children with compromised weight bearing and limited mobility are particularly at risk for fractures with minimal trauma. Unfortunately, they can also present several obstacles that can impede proper dual X-ray absorptiometry (DXA) scan assessment of whole body or spine bone mineral density (BMD). Since the distal femur is the most common site of fracture in those patients, the lateral distal femur (LDF) represents the site that best addresses the challenges of BMD...

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...

Introduction: Nitrogen-containing bisphosphonates (N-BPs) can inhibit the differentiation and function of osteoclasts derived from Peripheral Blood Mononuclear cells (PBMCs) in a dose-dependent manner. MUTZ-3 cells are a potentially useful human cell line for studying osteoclast differentiation. The aim of this study was to elucidate the action of N-BPs on MUTZ-3 cells.Methods: Human PBMCs and MUTZ-3 cells were cultured in α-MEM supplemented with he...

Duchenne muscular dystrophy (DMD) causes progressive muscle weakness and loss of ambulation. While glucocorticoid (GC) therapy improves motor function, many boys sustain fractures due to osteoporosis. Recently, i.v. bisphosphonate (i.v.BP) therapy has shown promise in the treatment of DMD-related osteoporosis. At the same time, bone histomorphometry revealed lowered bone volume and significant reductions in bone formation pre-i.v.BP treatment, and a further drop after 2 years&...

Overall cure rates for childhood acute lymphoblastic leukemia (ALL) have improved allowing the cure of over 85% of patients. At least 70% of survivors of childhood ALL cancers have substantial morbidities as a result of their treatment. There is evidence that survivors of ALL have increased rates of long-term skeletal muscle dysfunction and weakness. Our objective was to determine the percentage of patients with muscle dysfunctions (muscle force, power, endurance, and % of fit...

We report a male child presenting with antenatally diagnosed bilateral talipes equinovarus, short stature, bilateral cryptorchidism and poor weight gain; born at 39 weeks gestation (birth weight 2.56 kg) to non-consanguineous Caucasian parents. Facial dysmorphism included a prominent forehead, brachycephaly, shallow orbits, a high anterior hairline, a narrow nasal bridge and small mouth with a thin upper lip. He had white sclera and was short for height (−4.4 SDS) with a...

Introduction: Acromegaly is a rare disease caused by excess growth hormone (GH) production by an adenoma of the anterior pituitary gland. The skeletal complications of GH and IGF-1 excess include increased bone turnover, increased cortical bone mass and deteriorated microarchitecture of trabecular bone, associated with a high risk of vertebral fractures in the presence of a relatively normal Bone Mineral Density (BMD). There are no data on bone material properties in patients ...

COMP (Cartilage Oligomeric Matrix Protein) is a member of the thrombospondin family of extracellular matrix proteins and also referred to as thrombospondin-5. Mutations in COMP lead to chondrodysplasias. Here we studied COMP in zebrafish (Danio rerio) which is a powerful vertebrate model organism. In silico analysis revealed that only one COMP coding gene exists in zebrafish and that the domain structure of COMP is fully conserved. Inspection of gene locus and phyloge...