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Pompe disease is an inherited metabolic myopathy caused by deficiency of acid alpha-glucosidase. The introduction of enzyme replacement therapy as treatment for the disease may change prospects for patients and may require that more attention be paid to co-morbidities such as osteoporosis.Bone mineral status was assessed in children and adults with Pompe disease and compared with reference values...
Currently, there are conflicting data in literature regarding contribution of bone marrow stromal cells (BMSCs) to bone formation when the cells are systemically delivered in recipient animals. To understand if BMSCs contribute to bone cell phenotype and bone formation in osteogenesis imperfecta bones (OI), MSCs marked with GFP were directly infused into the femurs of a mouse model of OI (oim). The...
The goal of this study was to characterize the bone phenotype and molecular alterations in Col3.6-HSD2 mice in which a 3.6-kb Col1a1 promoter fragment drives 11ß-HSD2 expression broadly in the osteoblast lineage to reduce glucocorticoid signaling. Serum corticosterone was unchanged in transgenic females exluding a systemic effect of the transgene. Adult transgenic mice showed reduced vertebral trabecular...
Cementoblasts, tooth root lining cells, are responsible for laying down cementum on the root surface, a process that is indispensable for establishing a functional periodontal ligament. Cementoblasts share phenotypical features with osteoblasts. Elevated levels of extracellular Ca 2+ have been implicated in osteogenesis by stimulating the proliferation and differentiation of osteoblasts; however,...
To estimate the prevalence of vertebral fracture and densitometric osteoporosis in postmenopausal women over the age of 50 in Valencia, Spain.This cross-sectional study was conducted in 2006–2007. An age-stratified population-based random sample of 824 postmenopausal women over the age of 50 answered a questionnaire and received a densitometric examination of the lumbar spine and hip with dual-energy...
A large body of epidemiological evidence suggests an inverse relationship between physical activity and risk of fractures. However, it is unclear how this association varies according to the domain of life in which the activity is undertaken. In this analysis of the European Prospective Investigation of Cancer-Norfolk study, we assessed total and domain-specific physical activity using a validated...
The mechanical properties of bone estimated by micro-finite element (μFE) analysis on the basis of in vivo micro-MR images (μMRIs) of the distal extremities provide a new tool for direct assessment of the mechanical consequences of intervention. However, the accuracy of the method has not previously been investigated. Here, we compared μFE-derived mechanical parameters obtained from μMRIs at 160μm...
Low bone mineral density (BMD) is common in children and adolescents with celiac disease. Strict gluten-free diet (GFD) improves bone mineralization, even in 1year. The effect of occasional gluten intake is not known. The aims of this study were to compare BMD and prevalence of low BMD in children and adolescents on strict and not strict GFD.We measured BMD in 55 children and adolescents (strict GFD)...
The current report describes the skeletal effects of a sclerostin monoclonal antibody (Scl-AbIII) treatment at a yellow (fatty) marrow skeletal site in adult female rats. Ten-month-old female Sprague–Dawley rats were treated with vehicle or Scl-AbIII at 5 or 25mg/kg, twice per week by s.c. injection for 4weeks. Trabecular bone from a yellow (fatty) marrow site, the 5th caudal vertebral body (CVB),...
Vitamin D receptor (VDR) gene polymorphisms have been strongly associated with bone mineral density in some studies. However, in a recent meta-analysis, no relationship of the VDR BsmI or TaqI polymorphism and fracture risk was found in the meta-analysis of published data.Our meta-analysis studied whether a relationship exists between BsmI, TaqI, ApaI and FokI polymorphisms in the VDR gene and risk...
Quantitative cortical microarchitectural end points are important for understanding structure–function relations in the context of fracture risk and therapeutic efficacy. This technique study details new image-processing methods to automatically segment and directly quantify cortical density, geometry, and microarchitecture from HR-pQCT images of the distal radius and tibia.An automated segmentation...
Whole-body vibration (WBV) has been shown to be osteogenic in animal models; however, its application in humans is not clear. The purpose of this study was to examine the effects of an 8-month program involving WBV plus resistance training on bone mineral density (BMD) and bone metabolism in older postmenopausal women. Fifty-five estrogen-deficient postmenopausal women were assigned to a resistance...
Rett syndrome (RTT) is a common X-linked neurodevelopmental disorder caused by mutations in the coding region of methyl-CpG-binding 2 (MECP2) gene. Patients with RTT have a low bone mineral density and increased risk of fracture. However, very little is known if bone matrix mineralization is altered in RTT. A 17-year-old girl with a classical form of RTT with a heterozygous nonsense mutation in exon...
Previous papers investigating vitamin D status have often outlined the significant relationships between serum parathyroid hormone (PTH) and 25-hydroxyvitamin D (25OHD), but the influence of ionized calcium levels has not been concomitantly considered.Cross-sectional.In 1050 healthy men (547) and women (503), serum ionized calcium (iCa), creatinine (Cr), albumin, 25OHD, and PTH were measured. After...
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