Bone Abstracts

Fracture prevalence in children appears to change in recent years due to variations in physical activity and enforcement of laws that protect children within motor vehicles. However, in Mexico such variation has not been explored so far.Objective: To analyze fracture prevalence in the paediatric population of Mexico to detect patterns of change in time, between genres and among different diagnoses.Methods: We analyzed data from the...

Background: Osteoporosis is a leading cause of morbidity in patients affected by β-thalassaemia major (TM) and intermediate thalassaemia (TI). Appropriate supportive care and identification of long-term sequels of therapy are important in thalassaemic patients. As low bone mineral quality (BMQ) in patients can be considered a marker of possible degeneration to osteopenia and osteoporosis in adulthood, we evaluated bone features in a young population followed at ‘A. P...

Objective(s): We aimed to determine the impact of microgravity-induced osteoporosis on the future of space programs.Material and methods: We performed a metanalysis of the available literature, finding out different studies about i) muscle atrophy due to the absence of workload, which can consequently induce bone loss; ii) the effect of long term inactivity on bone mass; iii) the effect of calcium and vitamin D supplementation in women and men in order t...

Osteoporosis is a leading cause of morbidity in patients affected by β-thalassaemia major (TM) and intermediate thalassaemia (TI). Appropriate supportive care and identification of long-term sequels of therapy are important in thalassaemic patients. As low bone mineral quality (BMQ) in patients can be considered a marker of possible degeneration to osteopenia and osteoporosis in adulthood, we evaluated bone features in a young population followed at ‘A. Perrino’...

Background: Osteogenesis Imperfecta is commonly due to dominant mutations in type I collagen genes, COL1A1 and COL1A2. Recessive forms, which are rarer, are caused instead by mutations in various genes coding for proteins involved in collagen post-translational modifications, folding and secretion. A novel disease locus, SERPINF1, coding for pigment-epithelium-derived-factor (PEDF), a likely key factor in bone deposition and remodelling, has been fou...

Background: Osteogenesis imperfecta (OI) is a group of hereditary disorders characterized by bone fragility and osteopaenia, with a broad spectrum of clinical severity. The majority of cases are dominantly inherited and due to mutations in type I collagen genes, whereas recessive forms are less frequent and attributable to mutations in different genes involved in collagen I post translational modifications and folding (prolyl-3-hydroxylase complex, SERPINH1, FKBP1...

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of disorders characterized by bone fragility. The current classification comprises five forms (OI types I–V) with autosomal dominant inheritance and seven rarer forms (OI types VI–XII) with recessive inheritance. OI type V (MIM 610967) has distinguishing radiological features, such as propensity to hyperplastic callus formation, calcification of the forearm interosseous membrane, radial-head dislocatio...

There is a growing body of evidence indicating the important role of the neonatal steroid milieu in programming sexually dimorphic pattern in various physiological systems. We tested the hypothesis that abnormal exposure to steroid hormones within a critical developmental period elicits permanent changes on tooth eruption, enamel mineralization, and leptin and corticosterone concentrations in adulthood. Newborn Wistar rats were divided into four groups, two male groups and two...

Objectives: Type 2 diabetes mellitus (T2DM) is associated to an higher risk of fractures despite a normal or increased bone mineral density measured by dual-energy X-ray absorptiometry (DXA).The purpose of this 3-years longitudinal study was to assess the changes of quantitative ultrasound (QUS) parameters in a group of postmenopausal women with T2DM and in healthy controls.Materials and method: The analyses were performed on a gro...

Introduction: Benign osteopetrosis type 2 (OPTA2) (Albers-Schönberg disease) is usually associated with a heterozygous mutation in CLCN7. Patients may be asymptomatic and present following an x-ray taken for other reasons or with a low trauma fracture. There may be a family history. Homozygous mutations in CLCN7 usually result in severe disease which presents in the neonatal period or early infancy. We present a case of benign osteopetrosis associated wi...