Bone Abstracts

Type V OI is characterised by interosseous membrane calcification and hyperplastic callus formation, but the infantile phenotype is less well recognised. In 2012 Arundel et al. described distinctive radiographic changes in an infant with type V OI. We report two further male infants (with genetic confirmation of type V OI) confirming the highly characteristic and consistent radiographic appearances that should aid early diagnosis.Case 1 – P...

Background: In patients with osteogenesis imperfecta (OI), a rise in age-specific total body and regional bone mass is well recognised. In contrast changes in body size-adjusted bone mass in relation to changes in body composition following pamidronate therapy remain relatively unexplored.Methods: Changes in total and regional bone mass in relation to body composition in children with OI receiving pamidronate (3 mg/kg per day over 3 days, 3 monthly) were...

Mechanosenstitive osteocytes in bone supress the local production of sclerostin in response to mechanical loading, to increase osteoblast differentiation and bone mass. In addition, sclerostin is secreted from osteocytes into the circulation. Serum sclerostin has been shown to correlate with osteoporosis and low bone mass, however there is limited evidence by which to determine whether serum sclerostin is acting either a biomark...

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Rationale: Mice deficient in osteocalcin show an impaired glucose tolerance, however, the exact mechanism involved have yet to be fully elucidated. We aimed to overexpress osteocalcin to determine its effect on glucose homeostasis and explore the signalling pathway involved. We wished to expand upon previous preliminary data suggesting that this pathway involve neuropeptide Y (NPY) signalling.Objective: To analyse the in vivo and in vitro</e...

Background: Gorham Disease is a rare condition characterised by massive osteolysis. The pathophysiology is related to angio/lymphatic proliferation within bone. No genetic transmission has been identified and onset occurs in patients of all ages. Surgical fixation of the spine may be unsuccessful due to progressive osteolysis of bone surrounding the metalwork, or of the bone graft.Presenting problem: An 11 year-old boy presented with a 2 year history of ...

Objectives: Type V osteogenesis imperfecta (OI) results in abnormal modelling of the ulna, dislocation of the radial head and interosseous membrane calcification (IOM). Individuals develop reduced functional ability as a consequence of reduced range of movement (ROM) including elbow flexion and/or supination, which may be intrinsic or secondary to the radiographic findings. We describe the evolution of radiographic and functional parameters in a cohort seen in our centre.<...

Adolescents with cerebral palsy (CP) have altered muscle tone and reduced bone mass, which can lead to impaired mobility and function increasing their risk for osteopenia in later life. OBJECTIVES: We evaluated the efficacy of two side-alternating vibration therapy (VT) protocols (9 minutes/day versus 15 minutes/day) over a 20-week program on mobility and bone health in adolescents with mild CP. METHODS: Sixteen participants (12.4±0.9 years; 10 males) with mild cerebral p...

Children with cerebral palsy have altered muscle tone and reduced bone mass, which can lead to impaired mobility and function increasing their risk for osteopenia in later life.Objectives: We aimed to evaluate the impact of 20 weeks of side-alternating vibration therapy on muscle and bone health in children with mild-moderate cerebral palsy. METHODS: Twelve participants (7.2±0.5 years; 6 females) were recruited to perform vibration therapy on a Gali...

Biographical DetailsAnya RothenbuhlerAnya Rothenbuhler became MD at the Faculty of Medicine Lille 2 in France in 2003 with a primary specialization in Pediatrics. She then became assistant Professor in the Pediatric Endocrinology Department in Cochin-Saint Vincent de Paul Hospital, Université Paris Descartes and trained to become a pediatric en...