Bone Abstracts

Rheumatoid arthritis (RA) and ankylosing spondylitis (AS) are systemic, immune-mediated diseases. RA’s main targets are the peripheral joints while AS has the axial skeleton and enthesis as the principal affected areas. RA is characterized by bone erosions and impaired repair whilst AS is typified by bone overgrowth. The causes for these differences are not yet understood; however we hypothesize that AS patients’ monocytes receive reduced osteoclastogenic stimuli and...

Recent studies have demonstrated the role of osteocalcin in energy metabolism regulation having a connection between this and bone metabolism. According to this, anti-osteoporotic drugs may exert different effects on energy metabolism. Thereby, our aim is to evaluate the effects of antiresorptive (Denosumab) and osteoanabolic (Teriparatide) drugs that reduce or increase respectively osteocalcin levels, on energy and bone metabolism by assessing of undercarboxilated osteocalcin...

Introduction: Gaucher disease (GD), the most prevalent glycolipid storage disease, is an autosomal recessive metabolic disorder that is caused by an inherited deficiency of the lysosomal enzyme, glycocerebrosidase. This defect leads to reduce enzyme activity, resulting in the accumulation of glucosylceramide in cells of the monocyte-macrophages linage, known as Gaucher cells. Common presenting features include anemia, thrombocytopenia, hepatosplenomegaly and bone abnormalities...

Acrofrontofacionasal Dysostosis type 1 (AFFND1) is a rare human syndrome (estimated prevalence lower than 1:1,000,000), characterized by bone abnormalities in addition to other multiple congenital anomalies and intellectual disability. Only four AFFND1 families, three of Brazilian and one of Indian origin, have been described so far and an autosomal recessive pattern of inheritance has been suggested. The patients are severely affected: the main clinical features are intellect...

Objectives: The present study aims at evaluating bone mineral density (BMD) in a population of children with Neurofibromatosis type I (NF1), with particular focus on changes occurring during growth and pubertal development, trying to understand the magnitude and timing of onset of BMD impairment in this multisystemic and progressive disease, the latter poorly defined so far.Methods: Bone metabolic markers (total calcium, phosphorus, bone alkaline phospha...

Introduction: Osteogenesis imperfecta is a rare disease leading to immobility by recurrent fractures, immobilization, short stature and muscular weakness. Beside drug treatment and surgical procedures physiotherapy is the most important treatment approaches to increase mobility. The objective of our analysis was to evaluate the effect of a new standardized 12 months physiotherapy concept including whole body vibration over 6 months on motor function and bone mineral density in...

Introduction: Osteocytes play a major role in the bone remodelling unit (BRU). Thus, we hypothesize that mitochondrial bioenergetics impairment and mitochondrial/peroxisomal fatty acid β-oxidation unbalance is a cause of osteocytes metabolic decline during 17β-estradiol (E2) reduction. E2 and a phytochemical substitute, coumestrol (COU) were used (30 mg/kg during 24 h in ovariectomized rats in order to compare bone loss with sham-operated animal...

Children with 21-hydroxylase deficiency (21-OHD) need chronic glucocorticoid (cGC) therapy to replace congenital deficit of cortisol synthesis, and this therapy is the most frequent and severe form of drug-induced osteoporosis. In the study we enrolled 18 patients (9 females) and 18 sex- and age-matched controls. We found in 21-OHD patients high serum and leukocyte levels of dickkopf-1 (DKK1), a secreted antagonist of the Wnt/β-catenin signaling pathway, known to be a key...

We previously evidenced a reduced response to i.v. pamidronate in Q15STM1 mutation carriers (Q15STM1+) with Paget’s disease of bone (PDB). In order to confirm and extend this observation, we investigated the effect of Q15STM1 mutation and polymorphisms in three genes associated with PDB (TNFRSF11A; OPTN; TNFRSF11B) on the response to bisphosphonates. First, a retrospective study was performed in 335 patients treated wi...

Sclerostin, encoded by the SOST gene, functions as an inhibitor of the Wnt pathway and thus it is an important regulator of bone homeostasis. The fact that osteoblasts, the only cells expressing SOST, lay buried deeply in the bone matrix, poses intrinsic difficulties to the study of the regulation of this gene. Since RUNX2 and SP7/OSX are two known regulators of the differentiation of cells of the osteoblastic lineage, the aim of this study was to determine t...