Bone Abstracts

Introduction: Paget’s disease of bone (PDB) is a common disorder characterised by increased and disorganised bone remodelling. Previous genome wide association studies identified a locus for susceptibility to PDB on chromosome 1p13, tagged by rs484959 which lies 87 kb upstream of the CSF1 gene. This is a strong candidate for PDB since it encodes macrophage colony-stimulating factor (M-CSF) a critical cytokine for osteoclast formation and survival.Pu...

TRPV4-associated skeletal dysplasias include: FDAB, ADBO, SMDK, SEDM, MD and Parastremmatic dysplasia. In this study, we recruited 3 families with congenital scoliosis and 1 family with localized digital osteopetrosis. We collected their clinical data and use the next-generation sequencing system, Sanger sequencing and RT-PCR to obtain the genetic diagnosis. Proband 1, 2, 3 all presented with early-onset kyphoscoliosis and short stature. X-ray showed platyspondyly, hemivertebr...

Acrofrontofacionasal Dysostosis type 1 (AFFND1) is a rare human syndrome (estimated prevalence lower than 1:1,000,000), characterized by bone abnormalities in addition to other multiple congenital anomalies and intellectual disability. Only four AFFND1 families, three of Brazilian and one of Indian origin, have been described so far and an autosomal recessive pattern of inheritance has been suggested. The patients are severely affected: the main clinical features are intellect...

Objects: Seventy seven clinically diagnosed pseudohypoparathyroidism (PHP) patients from our hospital during 2000–2010 were recruited to analyze the clinical features and molecular genetics of Chinese PHP patients.Methods: The clinical data of the 77 PHP patients were retrospectively analyzed. Methylation status of GNAS was detected by combined bisulfiterestriction analysis. Genome DNA was extracted from peripheral blood lymphocytes. GN...

Background: Mutations in the PLS3 gene, encoding plastin 3, cause X-linked osteoporosis. Osteoporosis is characterized by low bone mineral density (BMD) and increased susceptibility to fractures. Here we describe a 7-year-old boy with osteoporosis due to a novel PLS3 deletion.Presenting problem: The patient, born to non-consanguineous parents, had a history of one low-energy long-bone fracture, three vertebral fractures (T5, T6 T8) and kyphosis. DXA scan...

Background: Mutations in SATB2 have been described in association with a unique phenotype known as SATB2-associated syndrome (SAS). This condition is characterised by severe intellectual disability affecting speech development, behaviour, facial features and dental anomalies. Skeletal features and osteoporosis have been reported in older individuals (aged 15–36), in association with point mutations. We report a 24-year-old man with a SATB2 misse...

Objective: Aim was to cross sectionally study bone health parameters assessed by DEXA and serum IGF1 concentrations in 6–16 year old children with type 1 diabetes. We hypothesized that height and bone parameters would be impaired in diabetic children compared with contemporary reference population.Method: Bone mineral content for total body (less head) (TBBMC) and lumbar spine was measured by DXA (n=170, 77 boys). Z-scores for TBBM...

Objectives: Activity duration and the daily patterns of activity during childhood and adolescence could contribute to long-term bone health. We examined cross-sectional associations between 11 and 12 year old children’s bone health and (1) durations, (2) patterns, and (3) combined durations and patterns of moderate-vigorous physical activity (MVPA) and sedentary behaviour.Methods: Design: Population-based cross-sectional study nested within...

Compliance with prescribed drugs is poor in most chronic conditions and osteoporosis is no exception. Compliance integrates the concepts adherence (how much drug is taken) and persistence (for how long) and also if the patient follow the instructions for a correct use of the medication. Between 50 and 75% of patients initiating antiosteoporosis drugs are not taken the treatment 1 year later. Obviously, this problem significantly decreases the effect of drugs. A smaller increas...

Treatment with sclerostin antibody (Scl-Ab) increases bone formation and strength in animal models. Here, we aimed to i) characterize the longer-term effects of Scl-Ab on bone in cynomolgus monkeys (cynos) and ovariectomized (OVX) rats and ii) test whether follow-up treatment with OPG-Fc would maintain the bone mass gains induced by Scl-Ab in OVX rats. In the cynos study, 3 to 5-year-old male cynos were treated for 6 months with weekly SC injections of vehicle (Veh), 3, 10, or...