Bone Abstracts

Objective: Serotonin is a neurotransmitter with multiple functions in the gastrointestinal tract and CNS. Recent animal studies indicate that serotonin regulates bone mass and remodelling. In humans, a handful of studies have shown decreased bone mineral density (BMD) in adults treated with selective serotonin reuptake inhibitors (SSRI) for depressive symptoms. Although SSRI’s are prescribed in pediatric practice, there are few studies examining the effect of SSRIs on bon...

Objective: Vascular calcification contributes to the pathogenesis of atherosclerosis, hypercholesterolemia, end stage renal disease, and diabetes, and is caused by genetic ablation of matrix Gla protein (MGP) in mice. Genetic ablation of MGP in mice results in excessive calcification of the vessel wall associated with a chondrocyte-like trans-differentiation in smooth muscle cells (VSMCs). Canonical β-catenin signaling is activated in the calcified arterial Mgp&#8722...

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: Subcutaneous fat necrosis (SCFN) of the newborn is an uncommon condition most commonly seen in term infants who have experienced perinatal stress presenting as nodules or plaques on the face, back or upper extremities. The associated complication of hypercalcemia is thought to be secondary to elevated 1,25-OH vitamin D from increased expression of 1-alpha hydroxylase from inflammatory granulomatous cells. However the natural history of SCFN, associated hypercalcemi...

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...