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) ...

IκB Kinase β (IKKβ), a key component of NFκB signaling, plays an important role in bone disease and cancer. Genetic and pharmacological inhibition of IKKβ/NFκB signaling increase bone mass and protect against ovariectomy- and inflammation-induced bone loss. Here, we describe a previously unknown role of the IKKβ/FoxO3a axis in bone metastasis associated with breast cancer. We observed that IKKβ expression is prevalent in invasive breast ...

Only minor literature on histopathologic changes in Blount’s disease is available. This study presents the histologic findings of biopsies harvested from the medial and lateral part of the proximal tibia during the W/M serrated osteotomy in patients with infantile Blount’s disease, performed in Ghana. In this study it is hypothesized that the medial metaphyseal area in these children will present a different histological morphology compared to the lateral metaphyseal...

Objective: The purpose of this study was to verify the influence of age, body mass and stature on the functionality level of children with Osteogenesis Imperfecta (OI). METHODS: Thirty-eight children (8.21±4.26 years, 19 girls and 52.6% OI type III) were evaluated during their hospitalization for Pamidronate intravenous infusion in the Brazilian Midwest reference hospital for OI treatment (University Hospital of Brasília). Body weight and stature were measured and ca...

The aim of this study was to evaluate the bone mineral density (BMD), trabecular bone score (TBS) in the Ukrainian women with obesity.Materials and methods: 1025 women aged 40–89 years (mean age – 62.7±9.7 yrs; mean height – 161.4±6.2 cm; mean weight – 73.9±13.8 kg, body mass index – 28.4±5.1 kg/m2) were examined. The women were divided into the following groups depending on their body mass index: A...

Background: While the relationship between visceral (VFAT) and subcutaneous (SFAT) fat mass with cardiometabolic risk has been demonstrated in adults, fat mass evolution during teenagehood remains poorly explored and usually assessed with irradiative (CT) or expensive (MRI) techniques. Our aim was to evaluate a novel technique derived from DXA to assess VFAT and SFAT in healthy teenagers.Subjects and methods: Healthy teenagers from the VITADOS study unde...

Background: Morquio disease was described by the Uruguayan pediatrician Luis Morquio. It’s a congenital disease caused by a deficiency of the N-acetilgalactosamine 6 sulfatase (MPS IV A) or B galactosidase (MPS IV B) and his frequency is 1/100 000 live births Accumulation of mucopolysacharides in tissues results in short stature, skeletal anomalies (vertebral column deformities), loss of hearing, visual anomalies (corneal opacities), cardiac, hepatic and respirat...

The relationships between insulin resistance and BMD are not clear. Therefore, we conducted a cross-sectional study to examine the relationship between insulin resistance and BMD among Korean young adult population. This study is based on the Korea National Health and Nutrition Examination Survey (KNHANES) from 2008 to 2010. BMD and body composition were measured by DXA method. Insulin resistances were obtained by HOMA-IR equation. The relationship between BMD and HOMA-IR were...

Objectives: Losartan is an angiotensin II receptor type 1 (AT1) antagonist. Losartan reduces circulating TGFb concentrations in a variety of myopathic models. We hypothesised that losartan administration to the murine osteogenesis imperfecta model OIM would result in lower circulating TGFb and CTX (bone resorption marker) and increase bone mass.Methods: All procedures were approved by UConn Health Institutional Animal Care and Use Committee and performed...

Objectives: Osteogenesis Imperfecta (OI) type XIV is a recessive OI form characterized by bone fragility, multiple fractures and growth retardation. It is caused by mutation in TMEM38B gene encoding the endoplasmic reticulum (ER) channel TRIC-B. This channel allows the transport of K+ across the ER membrane modulating Ca2+ flux. Defective ER Ca2+ impaires collagen type I synthesis, likely affecting the activity of ER enzymes involved in its post translational modification. To ...