Bone Abstracts

see P483....

Bruck syndrome, a disorder caused by bi-allelic mutations in either PLOD2 or FKBP10, is characterized by flexion contractures and bone fractures and shows strong clinical overlap with the brittle bone disease Osteogenesis Imperfecta. PLOD2 encodes the Lysyl hydroxylase 2 (LH2) enzyme, which is responsible for the hydroxylation of lysine residues in the type-I collagen telopeptides. This hydroxylation directs cross-linking of the collagen fibrils in t...

Osteogenesis imperfecta (OI) is a heritable bone dysplasia with collagen-related defects. Dominantly inherited OI is caused by structural defects in type I collagen or IFITM5, while recessive forms are caused by deficiency of proteins that interact with collagen for modification, folding or cross-linking. We have identified the first X-linked form of OI, caused by a defect in regulated intramembrane proteolysis (RIP). One type of RIP involves sequential cleavage of regulatory ...

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...

Objectives: To evaluate musculoskeletal trajectories in children with newly diagnosed Crohn’s disease (CD), and to determine whether children treated with anti-tumour necrosis factor-alpha antibody (anti-TNF, TREATED vs NAÏVE) had persistent deficits at two years.Methods: This was a single-centre prospective, observational inception cohort study. Children with CD underwent assessments within 6.5±9.5 days from diagnosis and annually for two...

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 ...

Objective: The purpose of this study was to compare the efficacy of raloxifene (RLX) 60 mg daily, vitamin D (VD) 200 IU daily, and alendronate (ALN) 35 mg once weekly on bone mineral density (BMD) of lumbar spine (L) and total femur (F) in postmenopausal women with osteoporosis, and the effects of the osteoporosis risk factors on BMDs and these treatments.Design and methods: The subjects were 242 postmenopausal Japanese women aged 48–87 years (mean ...

Introduction: Recent studies have found anti-inflammatory, antioxidant and bone forming properties of green (GTP) and black tea (BTP) polyphenols. However most of these studies are focussed on specific genes or pathways. We wanted to know if GTP and BTP could help to reduce symptoms of chronic inflammation especially bone loss and what are the possible genes and pathways involved. We were especially interested in unexplored pathways which may play a role in regaining bone heal...

Autotaxin (ATX) is a secreted protein produced by various tissues in the body including the liver, adipose tissue and bone. Autotaxin (ATX) is an enzyme with a phospholipase D activity responsible for cleavage of lysophosphatidyl-choline (LPC) in lysophosphatidic acid (LPA). LPA is a bio phospholipid, which acts as a growth factor, affecting proliferation, differentiation, and migration. It has been shown that the biological effect of LPA could be the direct consequence of loc...