Bone Abstracts

Background: A 5-month-old girl was referred to our unit after a systemic screening for hip dislocation by X-rays revealed bilateral femoral bowing. She was the first child of healthy non-consanguineous parents, and her family history was unremarkable. Her parents had a normal physical examination, and normal laboratory findings. At presentation, her height was 64.0 cm (Z-score: 0.0) with a regular height velocity. Weight was 7.4 kg (Z-score: 1.0). On physical...

Objectives: Lysophosphatidic acid (LPA) is a potent lipid growth factor which possess several G protein-coupled receptors LPA1-6. We have recently demonstrated that LPA1 receptor-invalidated mice display abnormal bone development and osteoporosis, suggesting abnormal endochondral ossification. We have here further studied the growth plates of LPA1 receptor-invalidated mice.Methods: We performed a microscopic and immuno-histochemistry analysis of the femo...

Objectives: Ghrelin is a peptide hormone secreted in the stomach, which stimulates GH release and food intake. It is also known to have an effect on bone metabolism. The ghrelin specific receptor, GHS-R1a, belongs to the G protein-coupled receptors (GPCRs). Its downstream pathway in osteoblasts remains unclear. We attempted to clarify the way by which ghrelin acts on osteoblast differentiation.Methods: We studied two human osteosarcoma cell lines, MG63 a...

Objectives: Ghrelin is an orexigenic hormone produced by the stomach that reflects body weight changes and stimulates GH secretion. Recently, it has been shown to be associated with bone metabolism and eating behaviour. The underlying pathophysiology of adolescent idiopathic scoliosis (AIS) refers to possible abnormal bone development. AIS patients also frequently present with low BMI level.Eating behavioural disorders, endocrine disorders, abnormal grow...

Background: Marfan syndrome (MFS) is a rare connective tissue disorder caused by mutation in the gene encoding the extracellular matrix protein fibrillin-1 (FBN1), leading to transforming growth factor-beta (TGF-β) signaling dysregulation. Although decreased axial and peripheral bone mineral density (BMD) has been reported in adults with MFS, data about the evolution of bone mass during childhood and adolescence are limited.Objectives: The aim of th...

Objectives: Bone disease is now well described in cystic fibrosis adult patients. CF bone disease is multifactorial but many studies suggested the crucial role of inflammation and chronic pulmonary infection. The objectives of this study were to assess the prevalence of osteoporosis in a current adult CF population and to examine its relationship with infections and inflammation.Methods: Patients were recruited in the adult CF Lyon Centre and assessed in...

Fibroblast growth factor-23 (FGF23) is a major regulator of phosphate metabolism often elevated in genetic hypophosphataemic disorders and in chronic kidney disease–bone mineral disorder (CKD–BMD). Recent studies have identified relationships between FGF23 and vitamin D.Objectives: To determine the relationship between vitamin D and FGF23 metabolism in CKD.Method: We used randomized samples from patient...

Objectives: Maximising peak bone mass (PBM) during growth is an essential part in the prevention of fractures and osteoporosis later in life. Two of the most important modifiable factors influencing PBM are diet and physical activity (PA). These factors can have either a direct or indirect effect on bone. For example, increasing PA would increase loads directly to the bone or cause muscle changes which would drive changes in bone. This study aimed to assess whether there was a...

Introduction: The platform of expertise for rare diseases Paris-Sud is an organization created at the end of 2014. It brings together 21 reference centers for rare diseases of the university hospitals Paris-Sud, 12 diagnostic and research laboratories, a biological resource center and several patient associations.Methods: A multidisciplinary team (a communication officer, a bio-informatician, a geneticist, clinical research associates, an administrative ...

see P21....