Bone Abstracts

Osteogenesis imperfecta (OI) type V is caused by a unique dominant mutation (c.−14C>T) in IFITM5, which encodes BRIL, a transmembrane ifitm-like protein most strongly expressed in osteoblasts, while type VI OI is caused by recessive null mutations in SERPINF1, encoding pigment epithelium-derived factor (PEDF). We identified a 25-year-old woman with severe OI, whose dermal fibroblasts and cultured osteoblasts displayed minimal secretion of PEDF, but ...

Background: Pseudohypoparathyroidism (PHP) is a group of heterogeneous endocrine disorders characterised by hormone resistance, primarily to parathyroid hormone (PTH). The resistance is caused by defects in the GNAS gene, which encodes the Gsα protein that activates the cAMP pathway. PHP patients demonstrate elevated plasma PTH, hypocalcaemia, hyperphosphataemia with normal renal function. PTH resistance can be confirmed by Ellsworth-Howard test (PTH s...

To point out common patterns of malalignment and deformity in hypophosphatemic rickets and describe treatment principles and techniques as well as common obstacles.Methods: Deformities of the lower limb in hypophosphatemic rickets do not resolve spontaneously under metabolic control of the disease. To prevent severe deformity and joint overload in the growing child guided growth has been shown to be effective in most cases. As recurrence of malalignment ...

Research design and methods: A characterisation of 225 European (Russian) osteoporotic postmenopausal women, treated for 2 years with amino-bisphosphonate zoledronic acid (zol), with respect to the adenosine/cytosine (A/C) rs2297480 farnesyl pyrophosphate synthase (FDPS) gene polymorphism, was carried out by PCR-based enzymatic digestion and quantitative PCR allelic discrimination on genomic DNA extracted from blood leukocytes. The association between these polymorphism genoty...

Introduction: Although previously babies with genetic type II Osteogenesis Imperfecta (OI) would not have expected to survive, they are now surviving beyond the neonatal period. We describe two such children who have survived beyond infancy.Aim & methods: To identify differences in motor developmental progress between a typical severe (type III) OI child vs two Type II OI children and suggest possible causes. Medical, nursing and therapy (physiothera...

Osteoporosis pseudoglioma syndrome (OPPGS) is a rare autosomal recessive disorder characterised by congenital or juvenile-onset blindness, severe juvenile-onset osteoporosis, and skeletal fragility. OPPGS is caused by loss-of-function mutations in the LRP5 gene, a member of the LDL receptor family. It activates the canonical Wnt/β-catenin pathway, regulating osteoblastic bone formation. We investigated a 40-year-old Caucasian male presenting with congenital blind...

Cadmium (Cd) is regarded as a risk factor for various bone diseases in humans and experimental animals. To compare effects of different routes of Cd administration on femoral bone structure, ten 4-month-old male Wistar rats (group A) were injected intraperitoneally with a single dose of 2 mg CdCl2/kg body weight and killed 36 h after Cd had been injected. Ten 1-month-old male rats (group B) were dosed with a daily Cd intake of 30 mg CdCl2/l in drinking wa...

Objective: The purpose of this study was to investigate the association between single nucleotide polymorphisms (SNPs) in leptin (LEP), its receptor (LEPR) and β adrenergic receptor (ADRB) genes and bone mineral density (BMD) in postmenopausal Korean women.Methods: The LEP c.280G>A, LEPR c.326A>G, c.668A>G, c.1968G>C, c.2096C>T, ADRB2 c.46A>G, c.79C>G, c.718T>C, c....

The objective of this study was to analyze measurement properties of BeamMed Omnisense quantitative ultrasound (QUS) of the radial and tibial speed of sound (SoS) for assessing bone health and screening bone fragility in youth. Bone fragility was defined as low whole body less head bone mineral density (WBLH BMD) measured by DXA (first tertile, 95% CI: −1.1– (−0.9)) and as past history of fractures evaluated by questionnaire. The study was conducted with 319 n...

Aim: To investigate the effect of psychoeducation program in families with osteogenesis imperfecta (OI).Methods: Sixteen family members of OI patients were included in the program. The research was designed as a semi structural, semi experimental pre and post test. The scales used were; Introductory Information Form, Burden Interview (BI), Coping Strategies Scale (CSS), Problem Solving Inventory (PSI), and Psychosocial Adjustment to Illness Scale (PAIS)....