Bone Abstracts

Mutations in PHEX and specific missense mutations of FGF23 result in elevated circulating FGF23 and hypophosphatemic rickets, respectively X-linked hypophosphatemic rickets (XLHR) and autosomal dominant HR (ADHR). FGF23, secreted by osteoblasts and osteocytes, regulates phosphate handling and vitamin D metabolism through its action on kidney. Extra renal effects of FGF23, including bone, have been very recently suspected mainly from overexpression or underexpression of FGF23 i...

Objective: To study the trends in prescription of different anti-osteoporotic drugs (AOD) in the UK population aged 50 years or above from 1990 till 2012.Methods: Retrospective observational study using the CPRD data link representative for the total UK population. The incidence of prescription of a specific AOD was calculated by dividing the number of prescriptions by the total person-years (py) of follow-up.Results: AOD prescript...

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...

The last years, diagnosis of achondroplasia benefited of the recent advances in prenatal imaging (including 3T-CD scan), and in invasive and non-invasive molecular screening.Objectives: To analyse stage/age, diagnosis procedures and outcome on a series of 64 consecutive cases of achondroplasia, in the French Centre of Reference for skeletal dysplasia, between 2008 and 2016.Methods: Confirmed achondroplasia were included in this sin...

Objectives: Denosumab (Dmab) is a monoclonal antibody targeting RANKL administered by sub-cutaneous injection. Given its convenient mode of administration, our goal was to assess the safety and efficacy of Dmab compared to intravenous zoledronic acid (ZA) in pediatric osteoporosis.Methods: In this one-year pilot study (NCT02632916), children 4–16 years with low-trauma fractures due to osteoporosis were randomized 1:1 to receive ZA 0.025 mg/kg or Dma...

Objectives: Denosumab (Dmab) is a monoclonal antibody targeting RANKL administered by sub-cutaneous injection. Recent reports have raised concern about the ‘rebound phenomenon’ (hypercalcemia and increases in bone turnover markers, BTM) following Dmab in adults, and during treatment in children with osteogenesis imperfecta. The purpose of this report was to explore this phenomenon in children with osteoporosis associated with lower bone turnover.<p class="abstext...

Deficiency in tissue nonspecific alkaline phosphatase (TNAP) causes hypophosphatasia (HPP), which is mainly characterized by skeletal hypomineralization. TNAP promotes mineralization by dephosphorylating the mineralization inhibitor inorganic pyrophosphate (PPi), which is generated from adenosine triphosphate (ATP) by ectonucleotide pyrophosphatase phosphodiesterase 1 (NPP1). Chronic recurrent multifocal osteomyelitis (CRMO), a sterile bone auto-inflammatory disease, has been ...

Sp7 and Runx2 are essential transcription factors for osteoblast differentiation at an early stage, and Runx2 inhibits osteoblast maturation at a late stage. However, the functions of Sp7 in bone development are not fully elucidated. Thus, we pursued the functions of Sp7 in bone development by generating osteoblast-specific Sp7 transgenic (tg) mice using 2.3 kb Col1a1 promoter. Sp7 tg mice showed osteopenia and woven-bone like structure in the cortic...

Background: 3M syndrome is a primordial growth disorder caused by mutations in CUL7, OBSL1 or CCDC8. Affected individuals have severe short stature for which growth hormone (GH) therapy may have a role1. We present a 10-year-old girl from Sri Lanka with 3M syndrome-2 due to a mutation in OBSL1 gene, with good short-term response to growth hormone therapy.Presenting Problem: The only child of second-degree consanguineous parents, both themselve...

Background: JDM is a systemic autoimmune inflammatory myopathy consisting of symmetric proximal muscle weakness, heliotrope and/or malar rash, Gottron’s papules, nailfold capillary changes, myalgias, arthralgias, dysphonia, dysphagia, fever, anorexia, and calcinosis. Hypoparathyroidism can present with signs of hypocalcemia (numbness, tingling, bronchospasm, seizure, or tetany). Causes of HP include postoperative, autoimmune (isolated or in autoimmune polyglandular syndro...