Bone Abstracts

Objective: To evaluate musculoskeletal development using pQCT in children with coeliac disease (CD) on gluten free diet (GFD) compared with age and gender matched healthy controlsMethod: 38 children (18 males) with CD on GFD for a duration of 3.6 years (0.6, 12.5) underwent pQCT at 4%, 38 and 66% tibial sites. Bloods were collected in CD children only. Results reported as median (range).Result: Median TTG was 1.8 IU/l (0.1, 114) wi...

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Atypical femur fractures (AFF) have been associated with antiresorptive therapy. In a retrospective case-control study, we identified AFF using ASBMR 2013 criteria. Femoral shaft fractures were identified using ICD9 codes. We screened 1479 radiographs. Radiographs were excluded for high-energy trauma, tumor, or periprosthetic fracture. Two radiologists blinded to treatment scored 482 radiographs for AFF features, and jointly adjudicated discrepancies. The required AFF feature,...

Background: Chronic renal, liver and heart failure in children associate with multiple skeletal complications. Increased fracture incidence often persists after transplantation and might be related to alterations in bone material properties. Moreover, it is not clear whether bisphosphonate therapy (BP) alters bone matrix mineralization in these patients.Methods: In the present study we evaluated bone mineralization density distribution (BMDD) by quantita...

Objectives: Progressive heterotopic ossification in fibrodysplasia ossificans progressiva (FOP; OMIM #135100) begins in childhood and leads to irreversible restriction of movement, functional impairment, and shortened life-span. Baseline data from an on-going, global, 3-year, natural history study (NHS) describe FOP disease characteristics, and retrospective flare-up history, causes/symptoms, and outcomes.Methods: Data from 101 subjects (recruited from 2...

Background: Previous studies with small number of boys with Duchenne Muscular Dystrophy (DMD) suggest that growth failure occurs in glucocorticoid naïve (GC) boys.Objective: To evaluate height and longitudinal growth in boys with DMD prior to GC.Method: Retrospective evaluation in boys with DMD with height measurements obtained for clinical purposes. Out of the 91 boys currently managed in Scotland, 51 had at least one height ...

Objective: FOP is a rare, severely disabling disease characterized by episodic flare-ups and accumulation of heterotopic ossification (HO) leading to restricted movement, physical disability, and early death. Data from two Phase 2 interventional studies and one natural history study (NHS) were used to evaluate whether palovarotene could reduce HO following an FOP flare-up.Methods: HO volume at the flare-up site was determined by CT at baseline and 12 wee...

Hypophosphatemic rickets (HR) is a type of bone disorder that causes skeletal deformities due to reduced renal phosphate reabsorption that affect bone mineralisation. Defect on PHEX, DMP1 and FGF23 causes x-linked dominant, autosomal recessive and autosomal dominant HR respectively. The aim of this study was to identify the underlying genetic mutations in PHEX, DMP1 and FGF23 in a 15-year-old female who exhibits the clinica...

Introduction: The vitamins as B6, C, or D are involved in serotonin metabolism but mostly in central neurotransmitter pathways. There are very few clear data related to 25-OH vitamin D status and serum serotonin (SS) levels.Aim: We analyze the SS and 25-OH D.Materials and methods: We included women in menopause. The serum serotonin (SS; normal 100–400 ng/ml) and 25-OH vitamin D (normal 30–100 ng/ml) were performed in fast...

It is well known that sex hormone deficiency leads to increased bone turnover and subsequent bone loss. The metabolism of estrogens involves, among others, oxidation (mainly hydroxylation) by CYPs. The aim of this study was to determine whether Leu432Val polymorphism in the CYP1B1 gene is present also in Slovak population and subsequently, if it is associated with femoral and spinal bone mineral density (FBMD and SBMD), bone remodeling markers and fracture incidence in this po...