Bone Abstracts

Objective: Turner syndrome (TS) is a chromosomal aberration characterized by total or partial loss of one of the two X-chromosomes, and affects about 1 in every 2500 girls. TS patients can develop the bone disease with decreased bone density and selective reduction in cortical bone thickness, which probably contributes to the increased fracture risk. However, the mechanisms underlying the bone disease remain poorly understood. Thus, the aim of this study was to investigate the...

Calcium (Ca) and vitamin D nutritional status effects on oral health were evaluated in 85 healthy women aged between 20 and 30 years (24.6±0.4). They attended the first year of the Nutrition Carrier at the Private University (ISALUD, Buenos Aires, Argentine). Usual Ca intake (CaI) was determined by a food-frequency questionnaire that included consumption of dairy products and calcium-enriched foods. Blood samples were obtained in a fasting state in winter: the end of Augu...

Individuals with Down syndrome (DS) have a number of phenotypic features, including a short stature. It has been reported that people with DS have lower areal BMD than the general population, but this may be a biased result due to the smaller size of the skeleton, and it is unclear if individuals with DS have fragile bones. Thus, the objective of this study was to explore the skeleton of DS using two techniques, TBS and calcaneal ultrasound, which are not influenced by bone si...

Objectives: Optic neuropathy (ON) is a critical complication of fibrous dysplasia (FD). Early surgical decompression can prevent blindness; however, prophylactic intervention may cause blindness from intra-operative nerve damage. There is therefore a critical need to develop diagnostic tests for accurate and early detection of ON in patients with FD. Currently used methodologies, including radiographic evaluation of optic canal size and optic nerve length, are suboptimal and c...

Biographical DetailsCatherine M Gordon, MD, MSc is a Professor of Pediatrics at the Alpert Medical School of Brown University and is Director of the Division of Adolescent Medicine at Hasbro Children’s Hospital. She is board-certified in adolescent medicine and pediatric endocrinology. She is on the Board of Directors for the International Society for Clinical Densitometry, and direc...

Biographical DetailsM van den Heuvel-Eibrink is Associate Professor of Pediatric Oncology at the Erasmus MC/Sophia Children’s Hospital, Rotterdam, The Netherlands. She began her medical career with an MD from the University of Utrecht and following a number of years of clinical work in the pediatric oncology field completed her PhD in Rotterdam in 2001. Since 2009 Dr M van den Heuvel...

Biographical DetailsDr Madhusmita Misra is a full Professor of Pediatrics at Harvard Medical School and a Pediatric Endocrinologist at Massachusetts General Hospital in Boston, Massachusetts. She directs the fellowship training program in Pediatric Endocrinology at Massachusetts General Hospital, and has a Masters in Public Health from the Harvard School of Public Health. Dr M Misra’...

Objective: To evaluate safety and efficacy after 5 years of treatment with asfotase alfa in adolescents and adults with hypophosphatasia (HPP) in a Phase 2, open-label, randomized, dose-ranging study (NCT01163149).Methods: Treatment with subcutaneous asfotase alfa 0.3 or 0.5 mg/kg per d was compared with no treatment (control) for 6 months in patients aged 13–66 years. After 6 months, all patients (treatment and control groups) received active treat...

Screening gene function in vivo is a powerful approach to discover novel drug targets in the human genome (Nat Rev Drug Discov 2 38–51, 2003). We present data for 3776 distinct gene knockout (KO) mouse lines with viable adult homozygous mice generated using both gene-trapping and homologous recombination technologies. Bone mass was determined from PIXImus DEXA scans of male and female mice at 14 weeks of age and by microCT analyses of bones from ...

Glucocorticoids (GC) are effective drugs in the treatment of inflammatory diseases, including various forms of arthritis. However, their use is limited by negative effects on bone mass and strength, resulting in increased osteoporotic fractures. Conditional knockout mice demonstrated that the GR in osteoblasts is essential for GC-dependent bone loss. Recent studies show that GC profoundly inhibit Wnt signaling by stimulating the expression of Wnt antagonists such as dickkopf-1...