Bone Abstracts

Background: We identified a family with early onset X-linked osteoporosis and fracturesMethods: We performed whole exome sequencing of the X chromosome in three affected members. After discovering a putative pathogenic variant we performed Sanger sequencing of all exons of this gene in other members of this family and in 95 unrelated men suspected of OI type I without COL1A1/2 mutations. We also genotyped a SNP in this gene (minor allele frequency 0.02) ...

Silk fibroin (SF) sponges are a promising scaffold material for tissue engineering due to their biocompatibility, mechanical properties, and ability to support calcium-phosphate formation in vitro. However, previous studies have shown that SF can mineralize spontaneously in the presence of culture media, which has a detrimental effect on experimental integrity when analyzing how cells deposit bone-like tissue in tissue engineering studies. In this study we analyzed th...

Purpose: To investigate the effect of enamel matrix derivative (Emdogain) on the attachment, growth behavior and the genetic effect of human gingival fibroblasts (HGF) cultured on zirconium disc surfaces.Materials and methods: HGF cells were cultured on i) zirconium discs without enamel matrix derivative (EMD), ii) zirconium discs with EMD 25 μg/ml, and iii) zirconium discs with EMD 100 μg/ml. The cell proliferation activity was evaluated throu...

Objective: The purpose of this study was to investigate the association between single nucleotide polymorphisms (SNPs) in leptin (LEP), its receptor (LEPR) and β adrenergic receptor (ADRB) genes and bone mineral density (BMD) in postmenopausal Korean women.Methods: The LEP c.280G>A, LEPR c.326A>G, c.668A>G, c.1968G>C, c.2096C>T, ADRB2 c.46A>G, c.79C>G, c.718T>C, c....

Children with cerebral palsy have altered muscle tone and reduced bone mass, which can lead to impaired mobility and function increasing their risk for osteopenia in later life.Objectives: We aimed to evaluate the impact of 20 weeks of side-alternating vibration therapy on muscle and bone health in children with mild-moderate cerebral palsy. METHODS: Twelve participants (7.2±0.5 years; 6 females) were recruited to perform vibration therapy on a Gali...

Objectives: Cross-sectional studies show that exercise may have positive effects on bone outcomes in youth. However, there is no evidence from longitudinal studies, which type of sports can induce improvements in bone acquisition in adolescent athletes. Therefore, this study aimed to investigate the longitudinal differences in bone acquisition and bone metabolism between adolescent males participating in osteogenic (football) and non-osteogenic (swimming, cycling) sports compa...

Introduction: Aggressive periodontitis (AgP) is an inflammatory disease causing rapid loss of teeth in young patients.Aim: Determine degree of impact of COL1A1 gene on likelihood of AgP development.Materials and methods: Study included 47 patients with AgP, 40 patients with osteoporosis (OP), and 64 healthy patients (HP). Polymorphic variant c.104-441G>T (COL1A1) was studied. Statistics: Fisher’s...

Diseases affecting the musculoskeletal system are a major cost burden to society. Articular cartilage loss or damage in these diseases is detected by radiography and measuring decreases in joint space width (JSW). The early stages of the disease may remain latent and asymptomatic for many years. This forms the rationale for applying molecular marker technology (biomarkers) to identify patients prone to joint diseases. One such biomarker is cartilage oligomeric matrix protein (...

Uncarboxylated osteocalcin, allegedly via G-protein coupled receptors, interacts with adipocytes and pancreatic β-cells, thus affecting metabolic homeostasis. Here, we demonstrate that MK-7 directly and indirectly, via osteocalcin, modulates the endocrine functions of both β-cells and adipocytes.• It was shown (by applying the Mir@nt@n-based emulation algorithm) that MK-7 was involved in a network of intracellular regulat...

Osteoarthritis is a complex pathogenesis because diverse factors interact causing a process of deterioration of the cartilage and the subchondral bone. Despite the multifactorial nature of the knee osteoarthritis, it is related to a strong genetic component. Determination of molecular genetic causes of osteoarthritis is an actual problem. There are several approaches to assess the contribution of a candidate gene in the pathogenesis of osteoarthritis. The aim of the study was ...