Altogether 95 children with primary bone fragility were screened for variants in PLS3, the gene underlying X-linked osteoporosis. Two children with multiple peripheral and spinal fractures and low BMD had novel disease-causing PLS3 variants. Children with milder phenotypes had no pathogenic variants. PLS3 screening is indicated in childhood-onset primary osteoporosis.
Reduced bone loss in a murine model of postmenopausal osteoporosis lacking complement component 3
The growing field of osteoimmunology seeks to unravel the complex interdependence of the skeletal and immune systems. Notably, we and others have demonstrated that complement signaling influences the differentiation of osteoblasts and osteoclasts, the two primary cell types responsible for maintaining bone homeostasis. However, the net effect of complement on bone homeostasis in vivo was unknown.
Exploring Sex and Gender in Bioarchaeology
This volume brings together the latest approaches in bioarchaeology in the study of sex and gender. Archaeologists have long used skeletal remains to identify gender. Contemporary bioarchaeologists, however, have begun to challenge the theoretical and methodological basis for sex assignment from the skeleton.
Retrieval Analysis of Porous Titanium Glenoid Posts: An Evaluation of Osteointegration
Glenoid component loosening is a commonly encountered complication of total shoulder replacements. Therefore, focus has been placed on glenoid fixation. Porous metal implants, which promote biological fixation through osteointegration, have provided an uncemented alternative to the traditional cemented implant. In this explantation study, the authors examined the bone ingrowth and ongrowth of a specific porous titanium glenoid peg. Six explanted polyethylene glenoid components with porous titanium-coated central pegs were identified in the authors' implant retrieval program via retrospective review.
Upregulation of Neuronal Adenosine A1 Receptor in Human Rasmussen Encephalitis
Rasmussen encephalitis (RE) is a rare neurological disorder characterized by unilateral inflammation of cerebral cortex and other structures, most notably the hippocampus, progressive cognitive deterioration, and pharmacoresistant focal epilepsy. The pathogenesis of RE with unilateral cortical atrophy and focal seizures is still enigmatic.
Deficiency of DGCR8 increases bone formation through downregulation of miR-22 expression
MicroRNAs (miRNA) significantly contribute to bone formation by post-transcriptional regulation of gene expression. Mature miRNAs are generated following sequential cleavage by DROSHA/DGCR8 and DICER. However, recent studies have identified that some miRNAs require only one of these enzymes. Most studies seeking to clarify the role of miRNA during bone formation have been performed using DICER deletion strategies, but little is known regarding the role of DGCR8.