Bone Abstracts

Osteoporosis (OP) is characterised by reduced bone mass, due to an insufficient osteoblast-mediated bone formation, unable to replace the bone tissue removed by osteoclasts. Mesenchymal stem cells (MSCs) are multipotent cells capable of differentiating into osteoblasts, adipocytes and chondrocytes. Epigenetic marks like DNA methylation could influence the differentiation potential of these cells into osteoblasts and, consequently, the risk of OP. To explore this hypothesis, we...

Background: Osteoporosis in children with osteogenesis imperfecta (OI) type 1 and acute lymphoblastic leukaemia (ALL) is characterised by high bone turnover. However the ability of spontaneous healing and reshaping of bone is retained in ALL even in the absence of bisphosphonate (BP) therapy, but impaired in OI.Aim: To compare the response to BP therapy in children with ALL and OI.Methods: Retrospective case note review of children...

Objectives: The present study aims at evaluating bone mineral density (BMD) in a population of children with Neurofibromatosis type I (NF1), with particular focus on changes occurring during growth and pubertal development, trying to understand the magnitude and timing of onset of BMD impairment in this multisystemic and progressive disease, the latter poorly defined so far.Methods: Bone metabolic markers (total calcium, phosphorus, bone alkaline phospha...

Osteoporosis has a complex etiology and is considered a multifactorial polygenic disease in which genetic determinants are modulated by hormonal, environmental, and nutritional factors.Polymorphism of the vitamin D receptor gene has been reported to play a major role in variations for genetic regulation of bone mass but its role within various ethnic populations is not clear. Estrogens are known to play an important role in regulating bone homeostasis, t...

Osteogenesis imperfecta is a clinically heterogeneous heritable connective tissue disorder. Most OI cases are due to mutations in type I collagen genes, COL1A1 and COL1A2 encoding the pro-alpha1(I) and pro-alpha2(I) chains respectively. However, genotype-phenotype correlation has not been completely elucidated yet. In this study we evaluated a familial case including a mother and a daughter, classified as OI type I. The daughter had more severe clinical featu...

Osteogenesis imperfecta is a clinically heterogeneous heritable connective tissue disorder. Most OI cases are due to mutations in type I collagen genes, COL1A1 and COL1A2 encoding the pro-alpha1(I) and pro-alpha2(I) chains respectively. However, genotype–phenotype correlation has not been completely elucidated yet. In this study we evaluated a familial case including a mother and a daughter, classified as OI type I. The daughter had more severe clinical ...

Abstract: Osteogenesis imperfecta, also known as ‘brittle bone disease’, is a heterogeneous disorder of connective tissue generally caused by dominant mutations in the genes COL1A1 and COL1A2, encoding the α1 and α2 chains of type I (pro)collagen. Symptomatic patients are usually prescribed bisphosphonates, but this treatment is neither curative nor sufficient. A promising field is gene silencing through RNA interference. In this study, small interfering RN...

Numerous studies in adult patients with type 1 diabetes (T1D) described an association with reduced bone mineral density, altered bone geometry and osteoporosis. Epidemiologic data on hip fractures demonstrate an increased risk in a large adult population with T1D. Diabetes is therefore categorized as adversely affecting the skeleton.In children and adolescence observations have been more controversial regarding bone mineral content, bone mineral density...

Biographical DetailsS Bechtold-Dalla Pozza is a Consultant Pediatric Endocrinologist working at the Department of Endocrinology and Diabetology of the Dr von Haunersches Kinderspital, Ludwig-Maximilians University, Munich, Germany. She completed her pediatric training at the department of Pediatrics at the University Children’s Hospital, Munich, following a clinical and research fell...

Type 2 diabetes and osteoporosis often occur together in postmenopausal women. Sitagliptin is a new drug used in the therapy of type 2 diabetes; it affects incretin system as a result of inhibition of dipeptidyl peptidase-4. So far, the impact of the drug on bone remodeling processes is unknown. The aim of this study was to investigate the effect of sitagliptin on bone growth and remodeling in non-ovariectomized and ovariectomized rats.The experiments we...