Bone Abstracts

Objectives: Osteogenesis Imperfecta (OI) type XIV is a recessive OI form characterized by bone fragility, multiple fractures and growth retardation. It is caused by mutation in TMEM38B gene encoding the endoplasmic reticulum (ER) channel TRIC-B. This channel allows the transport of K+ across the ER membrane modulating Ca2+ flux. Defective ER Ca2+ impaires collagen type I synthesis, likely affecting the activity of ER enzymes involved in its post translational modification. To ...

Achondroplasia is the commonest form of dwarfism. Key features in infancy impacting positioning are rhizomelia, spinal deformities and large head size. Both standard high chairs and specialized adaptive seating are currently inadequate to meet the needs of these infants. This is due to their anatomical limitations and the guidance for supportive positioning in this group of children, which recommend that a flat, elongated spine is optimal, avoiding a ‘C shape’, as is...

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...

Understanding normal patterns of bone growth is important for optimising bone health in children and reducing osteoporotic fractures in later life. Recently published guidelines for bone assessment in children state that to predict fractures a technique should identify children at risk of clinically significant fractures and that dual-energy absorptiometry (DXA) is the preferred method of assessment. Despite these guidelines there is still inconsistency and lack of consensus r...

Objective: Turner syndrome (TS) is a chromosomal aberration characterized by total or partial loss of one of the two X-chromosomes, and affects about 1 in every 2500 girls. TS patients can develop the bone disease with decreased bone density and selective reduction in cortical bone thickness, which probably contributes to the increased fracture risk. However, the mechanisms underlying the bone disease remain poorly understood. Thus, the aim of this study was to investigate the...

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MicroRNAs are important regulators of gene expression with documented role in bone metabolism and osteoporosis. Moreover, the use of miRNAs constitutes potential therapeutic targets. Our aim was to identify miRNAs differentially expressed in fractured compared to healthy bone. Additionally, we performed a miRNA profiling of primary osteoblasts to assess the origin of the differentially expressed miRNAs. Total RNA was extracted from fresh femoral neck trabecular bone from women...

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...

Background: Bone marrow (BM) adiposity is inversely related to bone mineral density and increases with ageing and menopause. We previously observed that the variation in BM fat fraction was more pronounced in premenopausal women compared to men and postmenopausal women. We hypothesized that the variation in BM fat fraction in premenopausal women is associated with hormonal variations during the menstrual cycle.Objective: To investigate the dynamic change...

Objectives: Osteogenesis imperfecta (OI) is a bone disease mainly caused by collagen type I mutations and characterized by bone fragility. No definitive cure is available and the search for novel treatments is necessary. The small teleost D. rerio is particularly appealing for drug screening approaches. A zebrafish OI model (Chihuahua) carrying in heterozygosis the G574D substitution in the α1 chain of collagen type I is available. To use this model for ...