Bone Abstracts

Objective: Currently, majority of the osteoporotic patients are not diagnosed i) a new ultrasound based device (Bindex) has been recently introduced for osteoporosis (OP) screening and diagnostics at primary healthcare ii) Bindex measures cortical thickness and determines parameter called density index (DI). Thresholds for DI in OP assessment have been determined in Finnish-Caucasian (F-C) population (n=448) along the International Society of Clinical Densitometry (IS...

Background: 1α-hydroxylase is a mitochondrial P450 enzyme critical to the synthesis of active calcitriol from the pro-hormone 25(OH) D. Multiple different mutations in the CYP27B1 gene have been identified that abolish or reduce 1α-hydroxylase enzymatic activity resulting in vitamin D dependent rickets type 1. Children with 1α-hydroxylase deficiency present with a clinical picture of joint pain and deformity, hypotonia, muscle weakness, growth failure and someti...

MicroRNAs (miRNAs) are small non-coding RNAs that have emerged as critical post-transcriptional regulators of gene expression. There is increasing evidence that miRNAs play an important role in osteoblast commitment and differentiation. The main aim of this study was to identify and characterize novel microRNAs regulating osteoblast functions. We report the role of mmu-miR-1187 in osteoblast differentiation and the mode by which it regulates osteogenesis. MicroRNA profiling of...

Objectives: The aim of this study was to evaluate and assess the change in bone mineral density in OI children treated with BPs at Chris Hani Baragwanath Academic hospital (CHBAH), South Africa.Methods: Medical files of 104 OI patients who were seen at Metabolic Bone clinic from 01 January 2006 till 31 December 2015 were reviewed. DXA measurements were available on 33 patients that received bisphosphonates from baseline and during therapy at three time p...

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Hypophosphatasia is a recessively inherited disorder with a wide phenotypic manifestation ranging from lethality in neonates to asymptomatic in adults. The severity of the phenotype is largely determined by the nature of the ALPL mutations. We describe a previously asymptomatic adult whose phenotype dramatically changed after he developed renal failure. A 50-year-old man was diagnosed with IgA nephropathy. At age 52 (eGFR 50 ml/min) he suffered his first metatarsal fr...

Although the optimal requirement of vitamin D for skeletal health in the general community remains uncertain, vitamin D deficiency impairs bone mineralisation, increases bone turnover, accelerates bone loss and increases fracture risk. Seasonal variation in the hip fracture incidenc, reported in several studies, supports a role for vitamin D deficiency in the epidemiology of hip fracture. We hypothesised that if the association is causal, then the amplitude of the seasonal var...

The gap between osteoporosis clinical guidelines and their implementation exists in all countries. The increasing use of computerised patient records offers new opportunities to aide clinical decision making. We have developed a fracture and osteoporosis investigation and treatment clinical decision tool to aide primary care management of osteoporosis. Uniquely, this tool is designed to be integrated with existing patient data software.Electronic clinica...

Differences in fracture rates and bone mass in families and individuals of different ethnic origins may be due to differing lifestyles and/or genetic backgrounds. This study aimed to assess the associations of bone mass and fracture prevalence in adolescents with maternal bone mass and fracture history, and sibling fracture history.Data from 1389 adolescent-biological mother pairs from the Birth to Twenty (Bt20) longitudinal study were obtained. Question...

Objectives: While nutritional rickets is traditionally associated with vitamin D deficiency, a number of other etiological factors have been proposed, including low calcium intake. Maternal nutrition can affect fetal and infant skeletal growth and development. Our aim was to determine the relationship between maternal bone density and rickets in Nigerian children.Methods: We measured areal forearm bone mineral density (BMD) in 56 and 131 mothers of child...