Bone Abstracts

Primary hyperparathyroidism is extremely rare in childhood and adolescence. Here we report a clinical case of a 15-year-3-month-old boy who began 2 years before with pain in his knees, genu varum, and fatigue. Physical examination showed severe genu valgum with an inter-malleolar distance of more than 30 cm. Biochemical tests showed hypercalcemia (12.2 mg/dl), hypophosphatemia (2.3 mg/ dl), hypercalciuria (6.4 mg/kg per day), high alkaline phosphatase (2812 IU/l), low 25-hydro...

It is well known that osteoporotic fragility fractures are an important risk factor for subsequent new vertebral and non-vertebral fractures. Many countries published recommendations to prevent fractures. Also in Italy the Minister of the Health highlighted the importance to prevent osteoporosis and the subsequent fractures, without practical instructions on the management of patients with fragility fractures in the daily clinical practice. Up to date there is no standardized ...

Osteoclasts are giant multinucleated skeletal cells of hematopoietic origin primarily responsible for bone resorption. Their functional impairment disturbs bone homeostasis and, to a variable extent, a number of other processes, such as growth, hematopoiesis and immune function. The accumulation of bone tissue owing to failure in bone resorption results in increased bone density, which is the hallmark of osteopetrosis (OP), a heterogeneous group of monogenic disorders with aut...

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...

Background: Current extension in the usage of growth hormone therapy (GHT) has increased the prevalence of bone complications. Legg Calvé Perthes disease (LCPD) is characterized by idiopathic avascular necrosis of the proximal femoral epiphysis. More frequently in boys between 4 and 8 years, LCPD is of unknown ethology. An increased incidence has been stated in case of GH deficiency. There is increasing data that children with LCPD may have a more widespread skeletal diso...

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...

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...