Bone Abstracts

Background: Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy in children and it is well known for its progressive deteriorating course. Nowadays, use of glucocorticoids is the gold standard of treatment for this group of patients as it can significantly prolong ambulation, decrease risk of scoliosis, and pulmonary functions. However, the use of glucocorticoid is associated with increased risk of vertebral and lower limb fractures, which could further acc...

Hypophosphatasia is an autosomal recessive rare metabolic disorder characterized by decreased bone mineralization. It can be seen in infancy, childhood or adolescence. Disease occurs due to the loss of non-specific alkaline phosphatase activity in liver, kidney and bones. There is no specific treatment. Two infants with growth retardation and failure to thrive diagnosed as infantile hypophosphatasia are presented.Our cases had abnormalities including sho...

Teriparatide is an anabolic agent given to reduce fracture risk in osteoporosis; it increases BMD and bone turnover. For monitoring treatment efficacy, serum PINP shows the greatest increase and low variability; it has been proposed as a marker of individual treatment response. We aimed to evaluate the utility of PINP to monitor teriparatide treatment in clinical practice.We performed a retrospective evaluation of 91 patients treated with teriparatide si...

Objectives: Several genes have been recognized to be associated with nonsurgical hypoparathyroidism. Most previous studies focused on gene mutation among paediatric hypoparathyroidism patients. Data about gene mutations in adult-onset hypoparathyroidism patients is still lacking. This study was designed to evaluate the role of gene defects in the pathogenesis of adult-onset hypoparathyroidism in China through the targeted next-generation sequencing (NGS).<p class="abstext"...

Introduction: Cranialfacial fibrous dysplasia (CFD) presents with pain, facial asymmetry and/or neurological complications. It has been suggested that patients with CFD respond favourably to treatment with bisphosphonates, by a decrease in pain and arrest of progression. Therefore, we performed a retrospective study of 56 patients with CFD in our center.Methods: We assessed clinical characteristics and disease course. Furthermore, clinical and biochemica...

Background: Acroosteolysis is a term used to describe bone resorption of the hands and toes. Typically involving distal phalanges, its causes may be hereditary, inflammatory, traumatic, toxin-mediated or idiopathic non-familial.Presenting problem: An 11-year old Chinese girl presented to the dermatology clinic with nail resorption of the left index finger for 1 year. She was previously well with no history of connective tissue disorders and no history of...

Background: Pseudohypoparathyroidism type 1A (PHP1A) is a rare genetic disorder caused by mutations in the gene GNAS. It is characterized by multi-hormone resistance, obesity, cognitive impairment and the Albright hereditary osteodystrophy phenotype. A recent study found a 4.4-fold increase risk of sleep apnea in children with PHP1A compared with similarly obese children.Objective: To describe a case of morbid obesity and respiratory failure in ...

Introduction: Hyperphosphatemic familial tumoral calcinosis is a rare genetic disorder causing reduced FGF23 activity. Recurrent and occasionally disabling subcutaneous calcifications are major disease manifestations. We describe the successful use of acetazolamide in two cases presenting in childhood with a homozygous GALNT3 mutation.Case 1: A five year old girl developed tender subcutaneous calcifications in the right elbow which were surgically resect...

Background: The development of hypophosphataemic rickets in infants fed with the elemental formula (EF) Neocate® has been recently reported. We present seven cases of exclusively Neocate-fed babies who developed hypophosphataemic rickets.Presenting problem: Three patients (P1,3,4) had incidental findings of rickets on chest X-rays, two (P2,6) developed leg deformities and rickets was confirmed on X-rays, and two (P5,6) presented with femu...

Denosumab (DMAb) significantly improves bone strength at the hip, estimated by FEA from QCT scans, from baseline (B/L) and vs placebo (Pbo) (Keaveny ASBMR 2010). We determined the extent and distribution of mass and thickness changes at the proximal femur, a key skeletal site for fracture risk, using a novel cortical bone mapping technique on the same serial QCT scans. A FREEDOM substudy included 80 women who underwent hip QCT scanning at B/L and months 12, 24 and 36 during DM...