Bone Abstracts

Background: Congenital multiple hormone deficiency (CMHD) is a rare condition caused by mutations in transcription factors involved in pituitary ontogenesis1. Incidence of mutations in POU1F1 gene in results between 3.8 and 7.7%2. POU1F1 gene mutations lead to somatolactotroph and thryotroph deficiencies. Brain MRI can be normal or shows pituitary hypoplasia without extrapituitary anomalies.Presenting problem: We describe the growth...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. Data from adult ADPKD population show increased fibroblast growth factor 23 (FGF23) levels while circulating Klotho levels decrease, with a low TmP/GFR even in patients with normal renal function. Moreover, in ADPKD animal models, cyst lining renal cells were demonstrated to produce FGF23, although the animals displayed FGF23 resistance. No data are available in a paediatr...

Background and Objectives: The relations among cortical volumetric bone mineral density (CortBMD) and comprehensive measures of mineral metabolism have not been addressed in chronic kidney disease (CKD). The aim was to identify determinants of CortBMD in childhood CKD. A secondary objective was to assess if CortBMD was associated with subsequent fracture.Design/participants: This prospective cohort study in children, adolescents and young adults (ages 5&...

Introduction: Gorham disease (GD), also known as Gorham–Stout syndrome, massive osteolysis or disappearing bone disease, is a very rare disease characterized by spontaneous and progressive osteolysis of one or more bones. Its prognosis is highly variable and unpredictable, ranging from minimal disability to death, due to involvement of vital structures, such as the vertebral column and rib cage. Osteoclasts hyperactivity has been suggested as potential pathogenetic abnorm...

Introduction: Most studies to date have focus on the effect of exercise interventions on bone remodeling. Furthermore, inflammation has been associated with those critical for bone physiology and remodeling. However, investigations analyzing the relationship between objective physical activity and bone metabolism and inflammatory markers and the potential interactions with BMD and body composition in older men are limited, which is the aim of the present study.<p class="ab...

Introduction: For the very first time were assessed in vivo the metabolic and lipid profiles of osteocytes. During menopause period the appearance of an osteoporotic condition can be associated with an overall metabolic decline in bone cells, as well an increase of reactive oxygen species (ROS), and we hypothesized that it is mainly attributed to osteocytes metabolic and lipid changes, which could be apparently attenuated after raising blood estradiol (E2) levels. To ...

In order to examine metabolic and biophysical parameters arising from obesity, male rats were given to drinking 30% sucrose (p/v) for 8 weeks. During the experimental period, animals in the control group (C) consumed higher amounts of food and water, but the body mass was smaller than the group receiving sucrose (S). In this group, the caloric load given to the animals for eight weeks resulted in increased energy consumption, in glycemia and in plasma leptin and abdominal fat....

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...

Introduction: Resistance to thyroid hormone (RTH) is a rare disease, characterized by elevated thyroid hormone and not suppressed TSH concentrations. In 85% of cases it is related to TRβ gene mutations.Objectives: To evaluate biochemical and densitometric features of 14 patients with RTH (RTHG: 7 females (4 children) and seven males (2 children)) in comparison to 24 control subjects (CG, 14 females (8 children) and 10 males (4 children)).<p clas...

Background: Morquio disease was described by the Uruguayan pediatrician Luis Morquio. It’s a congenital disease caused by a deficiency of the N-acetilgalactosamine 6 sulfatase (MPS IV A) or B galactosidase (MPS IV B) and his frequency is 1/100 000 live births Accumulation of mucopolysacharides in tissues results in short stature, skeletal anomalies (vertebral column deformities), loss of hearing, visual anomalies (corneal opacities), cardiac, hepatic and respirat...