Bone Abstracts

Background: Inherited forms of rickets are metabolic bone diseases developing as a result of inadequate mineralization of a growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Diverse phenotypic presentation and aetiology of these disorders pose difficulties for the diagnosis and management.Objective and hypotheses: The aim of this study was to perform molecular diagnostics and clinically characterize 137 patients with here...

Osteogenesis Imperfecta (OI) is in most cases a congenital disease of collagen. The mutations have been reported in COLIA1 and COLIA2 genes, localised to chromosomes 17 and 7 respectively. The incidence at birth is 6–20/100 000. Children and youths with OI often display a complex and heterogeneous picture with fragile skeleton, fractures, curvature in the long bones, short stature, pain and limitations in mobility and everyday activity. The impact of those factors for the...

Introduction: Osteogenesis imperfecta (OI) is a genetic disorder which mainly affects the collagen in the bone mass with fractures and deformities as the main symptoms. In OI there is a great variation in dysfunction related to the disease. Mobility and activities related to mobility are often most difficult. The objective for this study was to find a relevant, valid and reliable instrument to assess the children’s activity capability.Method and par...

The pediatric osteogenesis imperfecta (OI) team at our university hospital was established in 1991. The multi- and inter-disciplinary team consists of: pediatric neurologist, nurse, nursing assistant, physiotherapist, occupational therapist, orthopedic surgeon, orthotist, radiologist, dentist and geneticist. We also have a close collaboration with other specialists.Our assignment is high qualified diagnostics, functional assessments and also individualiz...

Skeletal strength, maintained through bone remodelling, is regulated through complex communication networks between bone cells and other tissues including endocrine cells. Bone also functions as an endocrine organ in its own right. The peptide hormone amylin (or Islet Amyloid Polypeptide (IAPP)), has links to both bone and energy metabolism. A member of the calcitonin family of peptides, it is co-secreted with insulin from pancreatic β-cells and is linked with diabetes-as...

Peak bone mass, typically reached in the third decade, is the highest bone mass acquired after completion of normal growth. Attaining a higher young adult bone mass may contribute to a lower risk of fragility fractures later in life. Few studies have specifically investigated quantitative ultrasound (QUS) in relation to peak bone mass in young adult women. The study objectives were to describe normative QUS values for 25 year old women and how extremes of body weight relate to...

Aim: To investigate the acute effects of oral glucocorticoids in doses used in clinical practice on biochemical indices of function of osteoclasts, osteoblasts and osteocytes.Methods: In 17 adult patients suffering from various medical pathologies requiring systemic steroid therapy that were never before treated with glucocorticoids, the glucocorticoid treatment was initiated (mean prednisolone equivalent dose of 23.1±12.7 mg/day, range 10–50 m...

The study is aimed to evaluate body composition and bone status in adult patients with active juvenile idiopathic arthritis (JIA) untreated with tumor necrosis factor α inhibitors. Adult patients (12 males and 19 females) with JIA and 84 healthy age- and gender- matched controls were enrolled into the study. Body composition and areal bone mineral density (aBMD) at the lumbar spine, proximal femur, femoral neck, distal radius and total body were assessed using dual energy...

Introduction: ENPP1 Deficiency manifests as GACI type 1 in infants, a disorder characterized by extensive arterial calcifications and stenoses, often fatal in utero or in early infancy. Beyond six months, the mortality rate significantly decreases among survivors, who may later develop ARHR2, characterized clinically by short stature, bone deformities and pain. ABCC6 Deficiency also manifests as GACI type 2 in infants and is clinically indistinguishable from GACI type 1. Anima...

Patients with Duchenne muscular dystrophy (DMD) carry a mutation in the dystrophin gene that leads to progressive muscle degeneration. In addition, DMD patients develop low bone mass especially in long bones and have high incidence of fractures. The underlying mechanisms for decreased bone mass remain unclear but muscle weakness and increased IL6 levels may play a role. Inhibition of activin/myostatin pathway has emerged as a novel approach to increase muscle mass and strength...