Bone Abstracts

Osteogenesis Imperfecta (OI) is a genetic condition which alters collagen biosynthesis(1). Prevalence is estimated at 1 in every 15, 000 births. It is a disorder with a wide spectrum of severity, with cases ranging from the extremely mild to those of perinatal mortality. Typical features include bone fragility; short stature; long bone deformity and persistent blue sclera(2). Although currently there is no cure for OI, with the input of a multidisciplinar...

Biographical DetailsDr John Herzenberg graduated from Boston University Medical School and trained at Duke University for Orthopaedics and Toronto Sick Kids for Pediatric Orthopaedics. He specializes in the diagnosis and treatment of adult and pediatric patients with congenital abnormalities, joint contractures, neuromuscular disorders, non-unions, malunions, deformity, and bone defects. ...

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Extreme high bone mass (HBM) may be monogenic (e.g. due to mutations in SOST or LRP5) or polygenic, due to variants in the same genes determining bone mineral density (BMD) as found in the general population. We aimed to determine the genetic cause underlying HBM in an extreme HBM population.258 unexplained HBM cases (defined as L1 Z-score ≥+3.2 plus total hip Z-score ≥+1.2, or total hip Z-score ≥+3.2 and L1 <...

Autosomal dominant osteopetrosis type II (ADO2) is a rare osteosclerotic disease due heterozygous missense mutations of the CLC7 gene encoding the type seven chloride channel. Our two labs independently generated the first C57 black 6 (B6) mouse model of ADO2 by inserting the pG213R-clc7 mutation. Homozygous mice showed lack of tooth eruption and died within 30 days of age with severe osteopetrosis and central nervous system degenera...

Autosomal dominant type II osteopetrosis (ADO2) is a rare osteosclerotic disorder due to heterozygous missense mutations of CLC7 gene encoding the type 7 chloride channel. Our two labs (L’Aquila and Indianapolis) independently generated the first C57 black 6 (B6) mouse model of ADO2 by inserting the pG213R-clc7 mutation. We created pG213R-clc7 KI mice using a gene targeting approach. Homozygous mice showed lack of tooth eruption and died within ...

The chronic use of glucocorticoids in patients with congenital adrenal hyperplasia (CAH) may result in decreased bone mass. Therefore, using simple and accurate methods for assessing bone status in these patients could facilitate the treatment of disease. The purpose of this study was to verify the association between parameters of bone mass measured by dual energy X-ray absorptiometry (DXA) and quantitative ultrasound (QUS) of proximal phalanges in children adolescents with c...

The childhood obesity is a global epidemic. Some studies with pre-pubertal children reported a positive relationship between fat mass and bone. However, there are no available data on the influence of the nutritional status on parameters of quantitative ultrasound (QUS). The aim of this study was to evaluate the influence of nutritional status in bone mass assessed by QUS of proximal phalanges in girls. The bone mass parameter, amplitude dependent speed sound (AD-SoS) in meter...

Objective: Evidence for further reduction of nonvertebral fracture (NVFX) beyond 3 years of antiresorptive therapy is limited. Since long-term denosumab (DMAb) treatment is associated with continuous increases in BMD and sustained fracture reduction, we analyzed the influence of femoral neck (FN) BMD after 3 years on NVFX rates.Methods: Long-term subjects received 7 continuous years of DMAb; cross-over subjects received 3 years of placebo (FREEDOM) and 4...