Bone Abstracts

Background: 1α-hydroxylase is a mitochondrial P450 enzyme critical to the synthesis of active calcitriol from the pro-hormone 25(OH) D. Multiple different mutations in the CYP27B1 gene have been identified that abolish or reduce 1α-hydroxylase enzymatic activity resulting in vitamin D dependent rickets type 1. Children with 1α-hydroxylase deficiency present with a clinical picture of joint pain and deformity, hypotonia, muscle weakness, growth failure and someti...

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. ...

Background: Peroxisomal Biogenesis Disorders (PBD) is a group of rare metabolic diseases in which peroxisomal function is disrupted. PBD encompasses Zellweger Syndrome Spectrum (ZSS) disorders, which range in severity from classical ZS with severe neurological impairment and markedly reduced life expectancy to Refsum Disease presenting later in childhood. Recent fragility fractures in our ZSS patients in very early childhood prompted case series review.P...

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone and rickets. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We report relevant real-world biochemical data on children under five years ...

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone resulting in rickets, skeletal abnormalities, physical impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We...

The incidence of hip fractures is declining in later cohorts of older people but, if the cohort effect is controlled for, the period effect shows a steady increase in incidence. This is almost certainly because we are seeing the survival of an increasingly frail group of older people with comorbidities. The great majority of hip fractures result from falls. There is strong research evidence that falls can be prevented. Proven strength and balance programmes reduce the rate of ...

Hormone replacement therapy (HRT) comprises estrogen, with or without progestogen addition, given to postmenopausal women. HRT is by far the most effective treatment for the relief of menopausal symptoms such as vasomotor and genito-urinary symptoms. It is as effective as alternative treatments for the prevention of postmenopausal osteoporosis. It increases bone mass, reduces bone turnover, and reduces fracture risk at all the important skeletal sites. It has a beneficial effe...

External fixation has been the gold standard for patients who require bone lengthening. This method is accurate and reliable, but can result in significant scarring, superficial infection, and pain. Additionally, the daily care of pin sites, unsightly appearance of the device, and reduced function can be emotionally taxing for both the patient and caregivers. An internal device that lengthens through rotational movement was developed to address some of these issues (ISKD). Alt...

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Non-pharmacologic approaches to preserve or increase BMD include whole body vibration (WBV). A meta-analysis and one-year randomized trial concluded that WBV has no effect on BMD in older women; however, previous trials were relatively brief and did not include a sham control group. Therefore, we conducted the Vibration to Improve Bone in Elderly Subjects (‘VIBES’) trial, a randomized, sham-controlled trial of 10 min of daily WBV (0.3 g at 30 Hz) in seniors recruited...