Bone Abstracts

Biographical DetailsDr A Linglart is a Paediatric Endocrinologist working at the Hôpital St Vincent de Paul in Parism, France. She has a special interest in rare diseases....

Introduction: Lymphoblastic leukemia is the predominant form of childhood malignancies with survival rates of >80%. Late effects of cancer and treatment can affect endocrine function and may account for acute and chronic impairment of bone health.Aim and design: To assess bone health in pediatric patients after therapy for lymphoblastic leukemia we initiated a clinical trial investigating clinical and biochemical parameters of growth, puberty, bone t...

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity to fracture. It is a variable condition with a range of clinical severity. About 90% of patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes, which shows an autosomal dominant pattern (AD) of inheritance. Other genes are associated with the autosomal recessive (AR) ...

Biographical DetailsLaurence Legeai-Mallet is currently Director of Research at Imagine Institute-Paris Descartes University. She received her PhD in genetic from University of Paris V, she is a member of International skeletal dysplasia Society, European Skeletal Dysplasia Network and the French reference center of bone dysplasias. She has been involved in the field of skeletal disease s...

The osteocyte most likely plays a role in bone remodeling by instructing osteoclasts to remove bone at specific sites. This entire process includes recruitment, proliferation and differentiation of osteoclast precursors. And osteocytes are responsible for detecting and responding to mechanical strain and may send signal to other cells. Therefore, to determine the role for osteocytes and mechanical strain in bone remodeling, we examined the effect of steady or pulsatile shear s...

Objective: Classical homocystinuria due to cystathionine beta-synthase (CBS) deficiency, is a rare autosomal recessively inherited disease characterized by the multiple involvement on different organs. While the most striking cause of morbidity and mortality is thromboembolism, patients develop a marked osteoporosis at early age along with many other skeletal abnormalities. As CBS normally converts homocysteine to cystathionine, the result of CBS deficiency is an accumulation ...

Despite its importance, the resorptive surface of osteoclasts has not been directly visualised. We exploited a novel approach that enables us to inspect the substrate-apposed surface of cells. To achieve this, we incubated osteoclasts on vitronectin-coated nail varnish and, afterwards, we dissolved the substrate and visualised the cells resorbing-side up in the scanning electron microscope (SEM). We then employed confocal microscopy to correlate the SEM appearances with the di...

Objectives: Juvenile idiopathic arthritis (JIA) – is a chronic inflammatory disease of joints which can affect optimal linear growth, risk of fractures and bone quality during the childhood and adult life. The aim of our study was to detect the simple clinical and laboratorial markers which can predict the realization of low bone mineral density (LBMD <−2 S.D.) in children with JIA.Methods: 198 children (82 boys and 116 girl...

Objectives: Limited data exist on growth parameters in children with hypophosphatasia (HPP), a rare metabolic disease characterized by impaired bone mineralization. We aimed to describe growth characteristics in untreated children with HPP enrolled in the Global HPP Patient Registry.Methods: Children (<18 years old) with a diagnosis of HPP who were not receiving enzyme replacement therapy with asfotase alfa at the time of evaluation were identified f...

Osteogenesis Imperfecta (OI) is a genetic disorder affecting 1 in 10,000 births with a wide variability in phenotypes. Clinical Manifestations include; recurrent fractures, bone pain, varying degrees of short stature and deformity, scoliosis, kyphosis, and respiratory failure in the severest types. Sleep disorders are under-acknowledged and are often more problematic in children with chronic illnesses. Moldosky1 identified the link between pain affecting quality of ...