Bone Abstracts

Background: Vitamin D-dependent rickets type 1 (VDDR-1) is a rare autosomal recessive disorder caused by mutations in CYP27B1. This gene encodes the 1α-hydroxylase enzyme which converts 25-hydroxy vitamin D to the active form 1,25-dihydroxyvitamin D.Objective: To describe a case of VDDR-1due to a novel CYP27B1 mutation.Presenting problem: A 27-month-old female was admitted to the Pediatric Intensive Care Unit...

Introduction: Hypovitaminosis D is observed in several rheumatic autoimmune diseases, including systemic sclerosis (SSc); nevertheless, data concerning the possible determinants of reduced serum vitamin D levels in this disease are not fully investigated. The aim of this study is to evaluate the relationship between BMD, body mass composition, skin sclerosis, and serum vitamin D levels in two subsets of SSc patients.Patients and methods: 55 Post-menopaus...

Objectives: Adolescent idiopathic scoliosis (AIS) was associated with low bone mass which, apart from being an important health issue that could persist into adulthood, was also a significant prognostic factor for curve progression in AIS. We have performed a randomized controlled trial on whole-body vibration (WBV) and reported its effect on increasing femoral neck areal bone mineral density (aBMD) mainly at the dominant leg. The objective of this study was to evaluate the ro...

Objective: Bone metabolism was studied in patients with phosphate diabetes before and after medication.Methods: 39 patients with phosphate diabetes age 2–18 years (7.8±4 years, 64% male) and multiplanar deformities of the lower extremities were treated with monthly vitamin D (2000 IU/day), alfacalcidol (0.25 mg/every other day) and calcium glycerophosphate (600 mg/day) for 6 months.Biochemical indices were evaluated befor...

Objectives: Adolescent Idiopathic Scoliosis (AIS) is associated with low bone mass. This study aimed at evaluating the therapeutic effect and its determinants of Ca+Vit-D supplementation in improving bone strength and preventing curve progression in AIS.Methods: This was a randomized double-blinded placebo-controlled trial recruiting AIS girls (11–14 years old, Tanner stage<IV) with femoral neck BMDZ-scores<0 and Cobb angle≥15°. 3...

Background and objectives: The association between excess calcium intake and cardiovascular mortality has been reported, but the association has not yet been explored according to serum vitamin D status. Thus, we investigated the relation of dietary calcium intake and Framingham risk score (FRS) according to serum 25-hydroxyvitamin D (25(OH)D) status.Methods: A total of 7809 subjects (3452 males and 4357 female) aged over 40 years from the data of the Ko...

Aim: Evaluate the differences with densitometry after 2-year treatment in patients with breast cancer and LBMD.Materials and methods: A 2 year duration longitudinal study was done in patients diagnosed with breast cancer sent to the Rheumatology Osteoporosis Unit in Hospital d’Ontinyent, who required supplements of calcium and vitamin D+bisphosphonates after a risk fracture study. Socio-demographic data, breast tumor characteristics, risk f...

Background: Defects in 1-α-hydroxylase enzyme activity result in reduced activity of 1,25(OH)2D causing vitamin D dependent rickets. Physiologically FGF23 levels are stimulated by a rise in 1,25(OH)2D which in turn suppresses 1-α-hydroxylase expression to complete the feedback loop.Presenting problem: A 15-month-old Irish Caucasian girl was referred by her GP for failure to weight bear. She was born at term via elective se...

Objectives: Mice with a non-functioning vitamin D receptor (VDR mutants) develop severe secondary hyperparathyroidism, which can be rescued by a diet enriched with calcium, phosphate and lactose. In this work, we studied the effects of a low calcium challenge (CD), normal calcium (ND) and a calcium enriched rescue diet (RD) on the bone mineralization density distribution (BMDD) and osteocyte lacunae sections (OLS) in these mice.Methods: BMDD and OLS were...

Background: Zoledronic acid (ZA) is associated with a transient post-infusional acute phase reaction (APR) due to the activation of γδTCR lymphocytes (γδTcells).Aims: To investigate if APR correlates with γδTcell percentage or cytokine polarization, or with 25-OH vitamin D levels; to identify a 25-OH vitamin D level associated with a lower risk of APR.Methods: Sera for ELISA test (IFNγ, IL17, and ...