Bone Abstracts

Background: Osteogenesis imperfecta (OI) is characterized by bone fragility, resulting in low-energy fractures. Other features are compromised growth, blue sclerae, dental, cardiac and hearing abnormalities.Presenting problem: A girl with OI, hypothyroidism and growth hormone (GH) deficiency is presented. She was born at 32 weeks [birth weight: 1890 gr, length: 44 cm]. Her mother had OI and thyroid nodules. Both were found with heterozygous mutation in t...

Objectives: Cross-sectional studies show that exercise may have positive effects on bone outcomes in youth. However, there is no evidence from longitudinal studies, which type of sports can induce improvements in bone acquisition in adolescent athletes. Therefore, this study aimed to investigate the longitudinal differences in bone acquisition and bone metabolism between adolescent males participating in osteogenic (football) and non-osteogenic (swimming, cycling) sports compa...

Background: Hypocalcemia presenting in adolescence is rare. Most common etiology is autoimmune hypoparathyroidism. Pseudohypoparathyroidism (PHP) is a rare group of disorders characterized by end-organ resistance to parathyroid hormone (PTH), and other hormones, such as TSH, with or without features of Albright’s hereditary osteodystrophy.Case presentation: A 14-year-old boy presented complaining of fatigue and spontaneous carpal spasms in associati...

Introduction: Perthes disease (PD), idiopathic femoral head avascular necrosis, often results in deformity. The underlying cause is unclear and long-term function is directly related to the roundness of femoral head. Current treatment include mechanical treatments and various surgical procedures, which are therapeutic but can’t prevent collapse. A multicentre, prospective, randomised controlled trial of 12 months zoledronic acid (ZA) in children with PD was conducted. We ...

Objective: Children with hypophosphatasia (HPP) treated with asfotase alfa in a Phase 2 study (NCT00952484) and its open-label extension (NCT01203826) experienced significant improvements in skeletal mineralization and physical function that were sustained through 5 years of treatment (1). Herein, we report data from these studies with a maximum of 7 years of treatment.Methods: Children with HPP aged 6–12 years at baseline received asfotase alfa (3 ...

We sought to elucidate the effects of dietary caloric alterations on bone marrow adiposity and the effects of β-adrenergic signaling on marrow stromal cells’ adipogenic differentiation. Male 6-week-old C57BL/6 mice were assigned into three groups: an ad-libitum fed control diet (CON; 10 kcal% fat), a high calorie diet (HIGH; 60 kcal% fat) and a low calorie diet (LOW; 30% kcal restriction vs CON diet). In each diet group, mice were treated with vehicle (VEH: ...

Synthetic glucocorticoids such as dexamethasone (Dex) are widely used for treatment of premature infants with chronic lung disease or respiratory distress syndrome or in allergic conditions such as asthma. Adverse effect of these treatments is glucocorticoids-induced osteoporosis. On the other hand there are functional foods, for instance 2-oxoglutaric acid (2-Ox) a precursor of hydroxyproline the prevailing amino acid in bone collagen, which reduce the risk of osteoporosis. T...

Surgical removal of the stomach (gastrectomy, Gx) leads to osteopenia in animals and in humans. In the rat, Gx causes loss of calvaria and trabecular bone, which can be reduced by 2-oxoglutaric acid (2-Ox), a precursor of hydroxyproline the most abundant amino acid in bone collagen. The purpose of this study was to investigate the effects (if any) of Gx on articular cartilage and if dietary 2-Ox can protects against eventual adverse effects of Gx. Twenty female Sprague–Da...

Background: Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) and Hyperphosphatemic Hyperostosis Syndrome (HHS) are two phenotypes of a disease associated with autosomal recessive mutations in FGF23, GALNT3 and KL, leading to reduced levels and clinical effects of fibroblast growth factor 23 (FGF23). We describe a consanguineous family with two affected individuals with HFTC and HHS caused by a novel homozygous mutation in GALNT3. We also...

In children and adolescents with acute lymphoblastic leukemia (ALL), low bone mineral density (BMD) and increased risk of fractures can be observed at diagnosis and/or during treatment.This prospective study was aimed to evaluate BMD and bone turnover in patients with a new diagnosis of ALL, treated with an international protocol (AIEOP BFM ALL 2009) (*), based on high-dose steroids and chemotherapeutic drugs.Inclusion criteria wer...