Bone Abstracts

Objectives: Different versions of the Childhood Health Questionnaire (CHAQ) have been used in Paediatric Rheumatology since 1994 to establish levels of functional disability. To date, use of the CHAQ has not been reported in Osteogenesis Imperfecta (OI). The aim of this study was to establish if disability scores generated from a modified CHAQ (MCHAQ) correlate with OI severity.Methods: The MCHAQ was developed to reflect the specific needs of children wi...

Deceased donor kidneys are exposed to cold ischemic insult, which makes them particularly susceptible to the effects of cold ischemic injury during hypothermic preservation resulting in high rates of delayed graft function. Although cold storage reduces cellular oxygen demand, ischemia causes the rapid depletion of adenosine triphosphate and accumulation of toxic substances leading to cell death. BMP-7 is a valuable reagent in a field of tissue regeneration and preservation un...

Objectives: Osteogenesis imperfecta (OI) is a heritable disorder characterized by bone deformity and skeletal fragility. Cartilage associated protein (CRTAP), proline 3-Hydroxylase 1 (P3H1) and Cyclophylin B (PPIB) are components of the endoplasmic reticulum (ER)-resident complex involved in the 3-hydroxylation of specific proline residues in collagen type I α chains. Mutations in these proteins are responsible for recessive OI type VII, VIII and IX, respectively. Murine ...

Several environmental and genetic factors may interfere on bone mass in children. However, the pediatric studies that approach the socioeconomic status and quantitative ultrasound (QUS) parameters are scarce. The aim of this study was to compare the bone mass in girls from 7 to 15 years old of different socioeconomic status. The sample consisted of 860 Brazilian girls (8.95±1.32) of different socioeconomic status. The bone mass parameter, amplitude dependent speed sound (...

Objectives: The Brtl mouse, a unique model for the autosomal dominant forms of osteogenesis imperfecta was used to prove the feasibility of a lentiviral-shRNA-based strategy to improve collagen quality by targeting the mutant Col1a1 allele at the point mutation responsible for the causative substitution Gly349Cys. The ability to specifically suppress the mutant allele should convert the moderate Brtl outcome to the mild one caused by quantitative defect.<p class="...

Background: Proline and hydroxyproline account for ~25% of aminoacids in collagen., Prolidase (peptidase D (EC 3.4.14.9)), cleaves iminodipeptides with a C-terminal proline or hydroxyproline, playing a major role in collagen catabolism. Mice with prolidase deficiency (PD) present with varied phenotypes including reduced size compared to wild-type littermates. We measured structural and mechanical properties of bones in PD mice.Methods: Whole femurs from ...

Dominant osteogenesis imperfecta (OI) is a bone disease mainly caused by collagen type I mutations and characterized by bone fragility and growth delay. Nowadays no definitive cure is available. A zebrafish OI model (Chihuahua) carrying an heterozygous G574D substitution in the α1 chain of collagen type I was generated by ENU mutagenesis and is available in our laboratory. Control (WT) and mutant (Chi+/−) fish growth was followed up from day 1 post fertilization to ...

After many years of study, researchers show that obesity can harm the bones. It is not known whether the increased fat mass can accelerate the process of bone loss. The aim of this study was to evaluate whether high-fat diet accelerates the process of bone loss in ovariectomized rats. This study was approved by the Ethics Committee of our Institution (188/2013). 40 female wistars rats with body mass of 60 g were used in this study. They were equally divided into four experimen...

Bone tissue homeostasis requires the coordinated activity of osteoblasts, the bone forming cells, of osteoclasts, the bone resorbing cells, and of osteocytes, generally referred as the bone mechano-sensors. In this contest, osteoblasts are the mesenchymal cells secreting the extracellular matrix components on which hydroxyapatite crystals are then deposited. The most abundant protein of this organic matrix is type I collagen, a heterotrimeric secretory protein, synthesized as ...

We have previously observed sex-specific effects of maternal calcium supplementation on offspring childhood growth, in a rural Gambian population with habitually low calcium intake (~300 mg daily).1,2 There was no effect on maternal blood pressure, the primary outcome of the original trial.3 In this study, we aim to investigate effects on offspring blood pressure (BP) in the same cohort. We recruited children (205 female, 182 male) born following a random...