Bone Abstracts

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...

Background: Achondroplasia is a genetic disorder wich affects bone growth leading to short stature. It occurs in 1 of every 25 000 live births and it is characteristized by short extremities, hyperlordosis, small hands and macrocephaly, with high forehead and saddle nose. Neurologic complications are due to narrowing of the vertebral foramen. Is transmitted as autosomal dominant and it is due to mutations of the FGFR3 gene witch codifies the fibroblastic receptor of G...

The aim of this study was to evaluate the trabecular bone score (TBS), bone mineral density (BMD) and body composition in men of various ages.Materials and methods: 300 men aged 40–87 years (mean age – 60.5±0.6 years; mean height – 1.61±0.003 m; mean weight – 84.1±0.9 kg) were examined. The patients were divided into the following age-dependent groups: 40–49 years (n=52), 50–59 years (n=90), ...

The aim of this study was to evaluate the trabecular bone score (TBS), bone mineral density (BMD) and body composition in women of various ages.Materials and methods: 494 women aged 41–89 years (mean age, 63.6±0.4 years; mean height, 1.61±0.003 m; and mean weight, 74.0±0.6 kg) were examined. The patients were divided into the following age-dependent groups: 40–49 years (n=35), 50–59 years (n=130), 60–6...

The aim of the study was to evaluate the role of vitamin D and exercises in correction of age-related skeletal muscle changes in postmenopausal women.Materials and methods: 38 postmenopausal women aged 53–82 years (mean age – 67.00±7.08 yrs) were examined. The women were divided into the following groups: A – control group (n=10), B – women who took an individually-targeted vitamin D therapy (n=11), C – wom...

Objectives: To describe two familiar cases of Hajdu–Cheney syndrome, a rare genetic disorder associated with skeletal dysplasia, craniofacial abnormalities, short stature, acro-osteolysis and osteoporosis.Materials and methods: A 51-year-old woman (case 1) presented in our outpatient clinic with pseudo-clubbing of some fingers and toes. She was short (139 cm) and thin (34 kg). She had facial and cranial abnormalities: thin lips, long philtrum, full ...

Background: Resveratrol (RSV), a natural polyphenolic compound, stimulates osteoblasts and inhibits osteoclast activation in vitro. Conflicting results have emerged from short-term studies in rodents but a recent study in men suggests a positive effect on BMD.Aim: To evaluate effects of short- and long-term high-dose RSV supplementation on bone in immobilized and non-immobilized rats.Methods: A total of 72 female Wistar ra...

Arterial calcification is now considered as an actively regulated process resembling osteogenesis orchestrated by a number of systemic or constitutively expressed mediators. Genetic studies of rare inherited syndromes have identified key regulators of arterial calcification. Based on the pathogenic principles causing the diseases these can be classified into three groups:i) Disorders of an increased extracellular inorganic phosphate/inorganic pyrophospha...

Objective: To investigate the effect of growth hormone (GH) treatment on glucose metabolism in achondroplasia (ACH) patients.Patients and methods: Twenty-five GH-treated (0.35 mg/kg/week) ACH patients (10 males and 15 females) were included in this study. Oral glucose tolerance test (OGTT) was performed at three time points; ‘pre-treatment’ (age: 4.0±1.9 years), ‘post short-term treatment’ (age: 6.5±3.0 years), and ‘pos...

Bisphosphonates are the mainstay of medical therapy in the fracturing child with osteoporosis. The majority of the data in children pertains to i.v. pamidronate use in children and adolescents with osteogenesis imperfecta (OI), where pamidronate has been associated with improvements in bone mineral density, cortical thickness, vertebral shape, pain, mobility and height.1 Side-effects of pamidronate including acute phase response to the initial dose and retardation o...