ESPE Abstracts

Background: In the past, the GH–IGF1 axis was thought to be the central system regulating childhood growth and therefore responsible for short stature and tall stature.Objective and hypotheses: The objective of this talk is to conceptualize disorders of linear growth in terms of the underlying growth plate biology.Method: Powerful, new, unbiased tools have recently been developed to investigate the genetic control of childhood...

Nuclear Factor kappa B (NF-κB) is a group of seven transcription factors, including p65 (RelA), c-Rel, RelB, p50/p105 (NF-κB1), and p52/p100 (NF-κB2). Upon activation by a wide variety of stimuli, NF-κB translocates to the nucleus, where it modulates the expression of target genes involved in cell growth, survival, and death.Previous evidence indicates that NF-κB regulates bone growth and development. Mice deficient in both the N...

Genetic factors play an important role in osteoporosis. Several monogenic forms of osteoporosis have been recognized. The most common is osteogenesis imperfecta (OI) in which heterozygous mutations in the genes encoding type 1 collagen are responsible for ~90% of the cases. Several rare autosomal recessive forms of OI have also been described. In these the defects lie in proteins involved in posttranslational modification of type 1 collagen. Recent studies have also identified...

Histomorphometric evaluation of transiliac bone samples represents a standardized tool for studying bone metabolism, yielding information on bone both static and dynamic parameters on bone formation and static resorption parameters. Beyond these routine evaluations, the identical bone biopsy sample can be further used to assess submicroscopic tissue characteristics of the bone matrix. At the material level, bone matrix can be considered as a mineral/organic matrix composite wh...

The pathogenesis of altered bone metabolism leading to bone mass loss and fractures in patients with cystic fibrosis (CF) is complex, and can involve malnutrition, malabsorption, lack of physical activity, vitamin D and K insufficiency, systemic inflammation, respiratory failure, liver disease, hypogonadism, and treatment with glucocorticosteroids. Many studies reported osteopenia, osteoporosis and fractures in adults with CF, with bone loss starting at an earlier age than in ...