Bone Abstracts

Background: Osteogenesis imperfecta (OI) is a rare disease characterized by increased fracture rate and bone deformities. Patients are classified by phenotype and most are affected by mutations in COL1A1/2.Patients with OI type V present with specific clinical symptoms including hyperplastic callus formation, only mildly decreased height, metaphyseal lines and a calcification of the membrane interossea of the forearm. The disease causing mutation for OI ...

Adiposity, physical inactivity and sedentary behavior have become an increasing problem during the past decade and raise concerns about future health. Increased sedentary behavior may change the body composition by increasing the fat mass (FM) relative to the lean mass (LM). These changes may influence bone health. This study aimed at evaluating the influence of BMI and body fat percent (BF%) and LM on children’s bone health represented by bone mineral content (BMC), bone...

Background: Osteogenesis imperfecta (OI) is a genetic disorder with low bone mass and bone fragility. Type VII OI is one of the autosomal recessive subtypes and clinically moderate to lethal. It is caused by mutations in the cartilage associated protein (CRTAP) gene. Currently <20 mutations are known.Case description: An 11-year-old Iraqi female was referred to our hospital after immigration to Finland. She had suffered numerous peripheral a...

New treatment agents against osteoporosis may not only lead to an improved trabecular structure, but can probably also strengthen the cortex. To assess this treatment effects by means of QCT, one has to deal with significant partial volume effects observing this very thin, but compact structure. A new method for cortical thickness estimation has been developed using an analytical deconvolution approach. After estimating the point-spread-function (PSF) of a scanner/kernel combi...

Osteogenesis imperfecta is a rare disease leading to multiple fractures, skeletal deformities and scoliosis due to a reduced bone mass. Pathological fractures caused by inadequate traumata are the most severe symptom. More than 85% of patients are affected by mutations in COL1A1/A2 impairing quantity and quality of collagen. At present no approved drugs for OI treatment in childhood are available. A single centre prospective pilot study was performed to assess safety and effic...

Objective: Nutritional rickets in Nigerian children is primarily due to dietary calcium deficiency and heals with calcium supplementation. Our aim was to determine the optimal dose of calcium for treatment of children with rickets due to dietary calcium deficiency.Methods: At the Jos University Teaching Hospital, 65 Nigerian children with radiographically-confirmed rickets were randomized to daily supplemental calcium intake of 500 mg (n=21), 10...

Transcript therapies, using chemically modified messenger RNAs (cmRNAs), are emerging as safer yet promising substitutes for gene and recombinant protein therapies. However, their applications have been limited due to transient translation and relative low stability of cmRNAs, compared to DNAs. Here we showed that vacuum-dried cmRNA-loaded collagen sponges, so called Transcript-Activated Matrices (TAMs), could serve as depots for sustained cmRNA delivery, providing steady stat...

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...

Infantile malignant osteopetrosis (IMO) is a rare, lethal, recessive disorder characterized by dysfunctional osteoclasts. TCIRG1, encoding the osteoclast V-ATPase, is mutated in 50% of IMO patients. We have previously shown that the resorptive function in osteoclasts derived from IMO patients can be restored in vitro by expressing TCIRG1 using a lentiviral vector. In this study, we aim to investigate the cellular response to vector-derived TCIRG1 expression and to det...

FDA guidelines recommend the sheep as large animal model for osteoporosis. Studies of osteoporosis induction use dual energy x-ray absorptiometry (DEXA) to evaluate bone status. Experimentally, the T-score is calculated based on reference bone mineral density (BMD) values of animals before treatment (0 M). Whereas clinically the reference BMD represents values of an independent group of patients around 30 years old. The study hypothesize that the use of additional ind...