Bone Abstracts

Background: Several bone metabolic pathways are disrupted in diabetes mellitus (DM), leading to reduced bone mass. Increased fracture risk and elevated Dickkopf-1, which is an inhibitor of the Wnt/b-catenin bone metabolic pathway, have been documented in adult patients with type 2 DM. No relevant data exist on childhood type 1 DM (T1DM).Objective and hypotheses: We aimed at studying plasma Dickkopf-1 concentration in children and adolescents with T1DM an...

Objectives: Studies have reported prevalence of vitamin D deficiency in Indian children with adequate sunlight exposure (Harinarayan, 2008). The objectives of our study were to A) examine the prevalence of vitamin D deficiency in children with adequate sunlight exposure in a semi-rural setting in Western Maharashtra (18(°N), India and B) explore the association of serum 7-Dehydrocholesterol reductase (7-DHCR) with the serum vitamin D levels.Methods:...

Background: Prader Willi syndrome (PWS) is a genetic disorder characterized by severe hypotonia in infancy, hypogonadism, dysmorphic features, early onset obesity and mild mental retardation.Although hip dysplasia occurs in 10–20% in patients with PWS, hip dislocation requiring surgery is seen rarely. To our knowledge, surgical treatment of hip dislocation in PWS has not been reported before.We present a case with PWS and hip ...

Low bone mineral density (BMD) and an increased rate of both peripheral and vertebral fractures have been observed in patients with Duchenne muscular dystrophy (DMD). However, studies specifically addressing bone metabolism, BMD and fractures in this disease are still very few.Our ongoing multicenter, prospective study is aimed to identify the characteristics of the DMD boys with a higher risk of bone loss and fractures, through the evaluation of bone tu...

Dysosteosclerosis (DSS) is the rare osteopetrosis (OPT) distinguished by metaphyseal osteosclerosis with relative radiolucency of widened diaphyses and platyspondyly. In 2012, mutations in the SLC29A3 gene were discovered to cause DSS.Here, we report a new case of DSS presenting with severe anemia and having a unique homozygous mutation in SLC29A3.Our patient was the 3rd child of consanguineous Turkish parents. She present...

Background: Despite the large amount of studies published on the association of vitamin D deficiency with higher incidence of falls and fractures, the threshold for a sufficient serum 25(OH)D concentration remains subject to a considerable debate. There has also been no clear consensus on the assessment and treatment of vitamin D deficiency.Objective: To examine the prevalence of vitamin D deficiency and/or insufficiency and its impact on calcium/phospha...

The healing of skeletal fractures involves a cascade of overlapping cellular events. This study aims to deepen the understanding of molecular networks orchestrating these events.Standard closed fracture in the left femur of male 8–10 weeks old C57BL/6N mice were analyzed at (day=D) D3, D7, D10, D14, D21 & D28 post fracture (N=5/time point). Total RNA was prepared for whole genome expression profiling using Illumina μ-array kit. Dat...

Multiple Myeloma (MM) is a malignancy of Plasma Cells (PC), characterized by severe osteolytic lesions but poor 99Tc-MDP uptake in bone scans due to osteoblast inhibition. We hypothesized that high demands for membrane biosynthesis in tumour PC would enhance monocarboxylic acid anabolism and uptake, which could be exploited for treatment and molecular imaging. Here, we tested the efficacy of clinically available 11C-Acetate PET to detect myeloma and quant...

Inflammatory stimuli can lead to bone loss by mechanisms that are not well understood. We recently showed that skin inflammation induces bone loss in mice and humans. In psoriasis, one of the prototypic IL-17A-mediated inflammatory human skin diseases, low bone formation and bone loss correlates with increased serum IL-17A levels. Similarly, in two mouse models with chronic IL-17A-mediated skin inflammation, K14-IL17Aind and JunB&...

Background: Periostin is a matricellular protein involved in bone modeling and remodeling through the modulation of WNT-β catenin signaling in osteoblasts and osteocytes.Aim: To investigate the interaction between polymorphisms of six periostin SNPs and other gene polymorphism involved in periostin expression and activity on periostin serum levels and bone microarchitecture in a cohort of postmenopausal women.Methods: A total ...