Bone Abstracts

Objective: In many traumatic or pathological conditions, bone turnover is low and osteoclast activity is reduced or abolished. We developed innovative hydroxyapatite (HA) scaffolds carrying RANKL expressing cells with the aim of supporting bone resorption when this is defective. Membrane-bound (m)RANKL is cleaved into soluble (s)RANKL by MMP14. We hypothesized that the osteoclastogenic potential of RANKL-producing cells could be improved if they were seeded on scaffolds engine...

Objectives: To determine any relationship of serum concentrations of osteoprotegerin (OPG), sRANKL and sRANKL:OPG ratio with idiopathic hypercalciuria (IH) in children, as there is some evidence of increased bone resorption in these patients.Methods: In a prospective study, twenty four children of median age 6.5 years (range 2.3–16.4) with IH (five had urolithiasis and two nephrocalcinosis) were examined at the time of diagnosis and after 3 months o...

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...

Autosomal dominant osteopetrosis type 2 (ADO2) is a rare genetic disease due to reduced osteoclast function. Clinical manifestations are variable, and in some cases the symptoms, including frequent fractures, osteomyelitis, hematologic and neural failures, are already evident during childhood and worsen with age. In 70% of cases, ADO2 is caused by heterozygous dominant negative mutations of the CLCN7 gene, encoding the Cl−/H+ antiporter type 7. We hypothesized that silen...

Infantile spinal muscular atrophy X-linked 2 (SMAX2) is a rare form of spinal muscular atrophy manifesting in severe hypotonia, areflexia, arthrogryposis, facial weakness and cryptorchidism, as frequently accompanied by bone fractures.We present a boy patient with SMAX2 who presented typical symptoms from birth, as preceded by reduced fetal movements in the second and third trimester of pregnancy. In the first days of life the patient was found to have s...

Objective: To study any possible relations of vitamin D status and metabolic syndrome (MetS) components in children, since there is evidence for extraskeletal functions of vitamin D, and its deficiency may contribute to the pathogenesis of several major diseases. In addition to explore any possible role of birth weight (BW).Methods: Clinically healthy children aged 3–9 years (n=152) were included in the study. Forty-six were born large for ...

Cysteine-rich with EGF like domains 2 (Creld2) has recently been identified as an endoplasmic reticulum (ER) stress inducible gene in the context of skeletal dysplasia caused by mutant protein accumulating in the ER eliciting an unfolded protein response (UPR). Creld2 was originally implicated in ER stress following the treatment of Neuro2α cells with thapsigargin. Furthermore, the promoter of Creld2 contains an ER stress activating transcription factor ...

Objectives: Evaluate nutritional status influence upon bone mineral density (BMD) of children with CP diagnosis after reconstructive hip joint surgery.Methods: Eighteen children with CP diagnosis with III-V level Gross Motor Function Classification System took part in the research. All patients received reconstructive medical treatment in child traumatic-orthopedic unit of health center after reconstructive hip joint surgery. Anthropometric measurement c...

Introduction: Pseudovitamin D deficiency rickets type I is inherited in an autosomal recessive pattern and forms usually as a result of mutation of CYP27B1 gene localised at chromosome 12. It leads to the deficiency of L 1-hydroxylase and abnormal hydroxylation of 25-hydroxycholecalciferol (25OHD) at C 1 which constitutes the last (renal) stage of transformation of vitamin D to 1,25dihydroxycholecalciferol (1,25(OH)2D). The clinical picture include...