Journals Journal of Bone and Mineral Re...

Journal of Bone and Mineral Research
Jules Allbritton-King, Jyotirindra Maity, Amit Patel, Robert A Colbert, Fatemeh Navid, Timothy Bhattacharyya
Patients with classical melorheostosis exhibit exuberant bone overgrowth in the appendicular skeleton, resulting in pain and deformity with no known treatment. Most patients have somatic, mosaic mutations in MAP2K1 (encoding the MEK1 protein) in osteoblasts and overlying skin. As with most rare bone diseases, lack of affected tissue has limited the opportunity to understand how the mutation results in excess bone formation. The aim of this study was to create a cellular model to study melorheostosis. We obtained patient skin cells bearing the MAP2K1 mutation (affected cells), and along with isogenic control normal fibroblasts reprogrammed them using the Sendai virus method into induced pluripotent stem cells (iPSCs)...
September 22, 2023: Journal of Bone and Mineral Research
Stefan Bartenschlager, Alexander Cavallaro, Tobias Pogarell, Oliver Chaudry, Michael Uder, Sundeep Khosla, Georg Schett, Klaus Engelke
Opportunistic screening is a new promising technique to identify individuals at high risk for osteoporotic fracture using CT scans originally acquired for an clinical purpose unrelated to osteoporosis. In these CT scans, a calibration phantom traditionally required to convert measured CT values to bone mineral density (BMD) is missing. As an alternative, phantomless calibration has been developed. This study aimed to review the principles of four existing phantomless calibration methods and to compare their performance against the gold standard of simultaneous calibration (ΔBMD)...
September 21, 2023: Journal of Bone and Mineral Research
Hirotaka Komaba, Junhui Zhao, Angelo Karaboyas, Suguru Yamamoto, Indranil Dasgupta, Mohamed Hassan, Li Zuo, Anders Christensson, Christian Combe, Bruce Robinson M, Masafumi Fukagawa
Active vitamin D is commonly used to control secondary hyperparathyroidism in dialysis patients, but it is unknown whether active vitamin D directly improves bone strength, independent of its effect to suppress parathyroid hormone (PTH). We analyzed the association between prescription of active vitamin D and incidence of any fracture and hip fracture in 41,677 in-center hemodialysis patients from 21 countries in phases 3-6 (2005-2018) of the Dialysis Outcomes and Practice Patterns Study (DOPPS). We used Cox regression, adjusted for PTH and other potential confounders, and used a per-protocol approach to censor patients at treatment switch during follow-up...
September 17, 2023: Journal of Bone and Mineral Research
Brecht Guillemyn, Hanna De Saffel, Jan Willem Bek, Piyanoot Tapaneeyaphan, Adelbert De Clercq, Tamara Jarayseh, Sophie Debaenst, Andy Willaert, Riet De Rycke, Peter H Byers, Toon Rosseel, Paul Coucke, Bettina Blaumeiser, Delfien Syx, Fransiska Malfait, Sofie Symoens
SNARE proteins comprise a conserved protein family responsible for catalyzing membrane fusion during vesicle traffic. Syntaxin18 (STX18) is a poorly characterized endoplasmic reticulum (ER)-resident t-SNARE. Recently, together with TANGO1 and SLY1, its involvement was shown in ER to Golgi transport of collagen II during chondrogenesis. We report a fetus with a severe osteochondrodysplasia in whom we identified a homozygous substitution of the highly conserved p.Arg10 to Pro of STX18. CRISPR/Cas9-mediated Stx18 deficiency in zebrafish reveals a crucial role for Stx18 in cartilage and bone development...
September 17, 2023: Journal of Bone and Mineral Research
Alexandre Mercier-Guery, Marjorie Millet, Blandine Merle, Corinne Collet, Flora Bagouet, Olivier Borel, Elisabeth Sornay-Rendu, Pawel Szulc, Emmanuelle Vignot, Deborah Gensburger, Elisabeth Fontanges, Martine Croset, Roland Chapurlat
As epigenetic regulators of gene expression, circulating microRNAs (miRNAs) have been described in several bone diseases as potential prognostic markers. The aim of our study was to identify circulating miRNAs potentially associated with the severity of Osteogenesis Imperfecta (OI), in 3 steps. We have screened by RNA sequencing for the microRNAs (miRNAs) that were differentially expressed in sera of a small group of OI patients versus controls and then conducted a validation phase by RT-qPCR analysis of sera of a larger patient population...
September 15, 2023: Journal of Bone and Mineral Research
Felicia Cosman
No abstract text is available yet for this article.
September 14, 2023: Journal of Bone and Mineral Research
Mattias Lorentzon, Andrew J Burghardt
No abstract text is available yet for this article.
September 13, 2023: Journal of Bone and Mineral Research
Ada S Cheung
No abstract text is available yet for this article.
September 13, 2023: Journal of Bone and Mineral Research
Alex Shoung, Nicholas Shoung, Rachael Hii, Nitesh Nerlekar, Peter R Ebeling, Alexander J Rodríguez
Bisphosphonates are first-line treatments for several bone and mineral disorders. Studies have reported an increased incidence of serious atrial fibrillation in patients receiving bisphosphonates, however, uncertainty remains as to if electrical disturbances are precipitated by bisphosphonates. We aimed to review the literature for studies reporting electrocardiogram findings in patients receiving intravenous bisphosphonates for any indication. We searched MEDLINE and EMBASE from inception until January 14, 2023, for studies reporting electrocardiogram parameters following intravenous bisphosphonate infusion...
September 8, 2023: Journal of Bone and Mineral Research
Raju Jaiswal, Michail Zoulakis, Kristian F Axelsson, Daniel Sundh, Henrik Litsne, Lisa Johansson, Mattias Lorentzon
No abstract text is available yet for this article.
August 31, 2023: Journal of Bone and Mineral Research
Thach S Tran, Thao P Ho-Le, Dana Bliuc, Jacqueline R Center, Robert D Blank, Tuan V Nguyen
Goeffrey Rose postulated that a population-based measure bringing a small benefit to each individual can yield large benefits to the community. We aimed to test this axiom by quantifying the relationship between change in bone mineral density (BMD) and hip fracture incidence between two prospective cohorts separated by ~10 years. In this prospective population-based Dubbo Osteoporosis Epidemiology Study (DOES), the participants aged 60+ were recruited in two waves: the initial cohort (1311 women, 842 men) in 1989-1992, and the second cohort (974 women, 544 men) in 1999-2001...
August 28, 2023: Journal of Bone and Mineral Research
Yang Qu, Changfeng Xiao, Xueyao Wu, Jingwei Zhu, Chenjiarui Qin, Lin He, Huijie Cui, Li Zhang, Wenqiang Zhang, Chunxia Yang, Yuqin Yao, Jiayuan Li, Zhenmi Liu, Ben Zhang, Wenzhi Wang, Xia Jiang
Although the impact of sex hormones on bone metabolism is well-documented, effect of their primary modulator, sex hormone-binding globulin (SHBG), remains inconclusive. This study aims to elucidate the genetic overlap between SHBG and heel estimated bone mineral density (eBMD), a widely-accepted tool for osteoporosis management and fracture risk assessment. Using summary statistics from large-scale genome-wide association studies conducted for SHBG (N = 370,125), SHBG adjusted for body mass index (SHBGa, N = 368,929), and eBMD (N = 426,824), a comprehensive genome-wide cross-trait approach was performed to quantify global and local genetic correlations, identify pleiotropic loci, and infer causal associations...
August 24, 2023: Journal of Bone and Mineral Research
Julie M Hughes, Julie P Greeves
No abstract text is available yet for this article.
August 22, 2023: Journal of Bone and Mineral Research
Marjorie Salga, Selwin G Samuel, Hsu-Wen Tseng, Laure Gatin, Dorothée Girard, Bastien Rival, Valerie Barbier, Kavita Bisht, Svetlana Shatunova, Charlotte Debaud, Ingrid G Winkler, Julie Paquereau, Aurélien Dinh, Guillaume Genêt, Sébastien Kerever, Paer-Sélim Abback, Sébastien Banzet, François Genêt, Jean-Pierre Lévesque, Kylie A Alexander
Neurogenic heterotopic ossifications (NHO) are heterotopic bones that develop in periarticular muscles following severe central nervous system injuries (CNS). Several retrospective studies have shown that NHO prevalence is higher in patients who suffer concomitant infections. However, it is unclear whether these infections directly contribute to NHO development or reflect the immunodepression observed in patients with CNS injury. Using our mouse model of NHO induced by spinal cord injury (SCI) between vertebrae T11-T13, we demonstrate that lipopolysaccharides (LPS) from gram-negative bacteria exacerbate NHO development in a toll-like receptor-4 (TLR4)-dependent manner, signaling through the TIR-domain-containing adapter-inducing interferon-β (TRIF/TICAM1) adaptor rather than the myeloid differentiation primary response-88 (MYD88) adaptor...
August 21, 2023: Journal of Bone and Mineral Research
Howard A Fink, Mary E Butler, Amy M Claussen, Erin S Collins, Kristina M Krohn, Brent C Taylor, Sina S Tikabo, Denny Vang, Nicholas L Zerzan, Kristine E Ensrud
The American Society of Bone and Mineral Research (ASBMR) Professional Practice Committee charged an ASBMR Task Force on Clinical Algorithms for Fracture Risk to review the evidence on whether current approaches for differentiating fracture risk based on race and ethnicity are necessary and valid. To help address these charges, we performed a systematic literature review investigating performance of calculators for predicting incident fractures within and across race and ethnicity groups in middle-aged and older U...
August 19, 2023: Journal of Bone and Mineral Research
Deepak Kumar Khajuria, Vengadeshprabhu Karuppagounder, Irena Nowak, Diana E Sepulveda, Gregory S Lewis, Christopher Norbury C, Wesley M Raup-Konsavage, Kent E Vrana, Fadia Kamal, Reyad A Elbarbary
Bone fractures are among the most prevalent musculoskeletal injuries, and pain management is an essential part of fracture treatment. Fractures heal through an early inflammatory phase, followed by repair and remodelling. Nonsteroidal anti-inflammatory drugs (NSAIDs) are not recommended for fracture pain control as they potently inhibit the inflammatory phase and, thus, impair the healing. Opioids do not provide a better alternative for several reasons, including abuse potential. Accordingly, there is an unmet clinical need for analgesics that effectively ameliorate post-fracture pain without impeding the healing...
August 19, 2023: Journal of Bone and Mineral Research
Mette Søeby, Sigrid Bjerge Gribsholt, Loa Clausen, Bjørn Richelsen
Prior research has reported increased fracture risk in patients with anorexia nervosa (AN), but more knowledge on the long-term risk, and the effect of age, male sex and time related changes is still needed. We examined the long-term (up to 40 years) fracture risk among patients with AN compared to a matched comparison cohort from the general population. We utilized data from the Danish Health Care Registers to identify 14,414 patients with AN (13,474 females and 940 males) diagnosed between 1977-2018, with a median age of 18...
August 14, 2023: Journal of Bone and Mineral Research
Suzanne M Jan de Beur, Tricia Cimms, Annabel Nixon, Christina Theodore-Oklota, Diana Luca, Mary Scott Roberts, Shayna Egan, Christina A Graham, Elizabeth Hribal, Christopher J Evans, Sue Wood, Angela Williams
Tumor-induced osteomalacia (TIO) is an ultra-rare disease caused by tumors that secrete fibroblast growth factor 23, leading to chronic hypophosphatemia, poor skeletal health and impaired physical function. In a phase 2 trial (UX023T-CL201; NCT02304367; n = 14), 48 weeks' burosumab treatment restored phosphate homeostasis, with improvements in skeletal health, functional mobility, and patient-reported pain, fatigue, and health-related quality of life (HRQL) (SF-36 v2). Here, we report an exploratory mixed-methods analysis of change from baseline after 144 weeks' burosumab treatment alongside qualitative data from exit interviews with eight of fourteen trial participants to evaluate meaningful treatment effects from a patient perspective...
August 14, 2023: Journal of Bone and Mineral Research
Carrie-Anne Ng, Anoohya Gandham, Jakub Mesinovic, Patrick J Owen, Peter R Ebeling, David Scott
Moderate- to high-impact exercise improves bone mineral density (BMD) across the lifespan, but its effects on bone structure, which predicts fracture independent of areal BMD, are unclear. This systematic review and meta-analysis investigated effects of impact exercise on volumetric BMD (vBMD) and bone structure. Four databases (PubMed, Embase, SPORTDiscus, Web of Science) were searched up to March 2022 for randomised controlled trials (RCTs) investigating the effects of impact exercise, with ground reaction forces equal to, or greater than, running, compared with sham or habitual activity, on bone vBMD and structure...
August 9, 2023: Journal of Bone and Mineral Research
Tess Holling, Laura Brylka, Tasja Scholz, Tatjana Bierhals, Theresia Herget, Peter Meinecke, Thorsten Schinke, Ralf Oheim, Kerstin Kutsche
Isolated short stature, defined as short stature without any other abnormalities, is a common heterogeneous condition in children. Exome sequencing identified the homozygous nonsense variant c.1832G>A/p.(Trp611*) in TMCO3 in two sisters with isolated short stature. Radiological studies, biochemical measurements, assessment of the skeletal status, and three-dimensional bone microarchitecture revealed no relevant skeletal and bone abnormalities in both sisters. The homozygous TMCO3 variant segregated with short stature in the family...
August 9, 2023: Journal of Bone and Mineral Research
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