Bone Abstracts

Background: Osteogenesis imperfecta (OI), the commonest inherited bone fragility disorder, affects 1/15,000 live births resulting in frequent fractures and reduced mobility, with significant impact on quality of life. Early diagnosis is important, as therapeutic advances can lead to improved clinical outcomes.Methodology and results: Trio whole exome sequencing in patients with OI identified, in two patients, compound heterozygous mutations in NBAS</...

Objectives: Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant diseases. Skeletal involvement such as short stature, kyphoscoliosis, tibial bowing and pseudarthrosis are common osseous manifestations of NF1. Moreover, there is a growing evidence that reduced bone mineral density (BMD), is a common feature of NF1 subjects. The aim of the study was to evaluate the usefulness of Bone Mineral Density and Quantitative Ultrasound (QUS) at phalanxes in the assessm...

Objectives: Simultaneous pancreas kidney transplantation (SPKT) is a standard treatment option for adults with long-lasting (usually adolescence onset) type 1 diabetes (T1D) and concurrent renal failure. Despite the need for life-long immunosuppressive therapy the patients achieve better glycemic control, normalized renal function and an improved quality of life. Whether metabolic improvement is also reflected in the skeleton is not yet clear.Methods: Pa...

Childhood hypothyroidism results in delayed skeletal maturation and impaired growth. Thyroid hormones act via temporo-spatially regulated thyroid hormone receptors α (TRα) and (TRβ).In the skeleton, TRα is the predominant receptor and we hypothesise that the skeletal effects of hypothyroidism are mediated by TRα.To investigate this we assessed the response of wild-type (WT), TRα knockout (TRα...

Background: Chronic recurrent multifocal osteomyelitis (CRMO) is a rare inflammatory bone disease characterized by chronic non-infectious osteomyelitis. Spinal involvement has been reported in up to 26% of patients (1). Three studies evaluated the effect of Pamidronate (PAM) on spinal lesions in pediatric patients with CRMO (1, 2, 3) and showed partial or complete resolution of vertebral hyperintensities on MRI (1). However, the effect of Zoledronic acid (ZOL) in pediatric pat...

Introduction: Hypophosphatasia (HPP) characterized by reduced mineralization occurs from mutations in the tissue non-specific alkaline phosphatase (ALPL) gene. Individuals harbouring bi-allelic mutations are generally reported to be severely affected. We report the findings of in vitro functional studies following site-directed mutagenesis in bi-allelic mutations causing extreme clinical phenotypes; severe perinatal and asymptomatic HPP.Objectiv...

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...

Introduction: Gorham disease (GD), also known as Gorham–Stout syndrome, massive osteolysis or disappearing bone disease, is a very rare disease characterized by spontaneous and progressive osteolysis of one or more bones. Its prognosis is highly variable and unpredictable, ranging from minimal disability to death, due to involvement of vital structures, such as the vertebral column and rib cage. Osteoclasts hyperactivity has been suggested as potential pathogenetic abnorm...

Objective: We analyze changes of spine BMD and hip BMD after total knee replacement (TKR) according to osteoporosis medication, bilaterality of operation site, degree of obesity, degree of knee function and osteoporosis diagnosis at operation in female patients above 65 years old, who received TKR due to severe knee osteoarthritis,Method: 52 patients who checked 1 year follow-up BMD were enrolled. Patients were checked the spine and hip BMD at pre-operat...

Multiple myeloma (MM) is associated with lytic bone destruction leading to high fracture incidence in the vertebrae. Accurate assessment of fracture risk is required for physicians to determine the necessity for surgery. This risk is currently determined by examining lesion size or number; however, this method does not consider the biomechanical attributes of the bone. Finite element (FE) modelling can simulate mechanical loading on vertebral bodies, and estimate mechanical in...