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Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research

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https://www.readbyqxmd.com/read/29669177/mutations-that-alter-the-carboxy-terminal-propeptide-cleavage-site-of-the-chains-of-type-i-procollagen-are-associated-with-a-unique-osteogenesis-imperfecta-phenotype
#1
Tim Cundy, Michael Dray, John Delahunt, Jannie Dahl Hald, Bente Langdahl, Chumei Li, Marta Szybowska, Shehla Mohammed, Emma L Duncan, Aideen M McInerney-Leo, Patricia G Wheeler, Paul Roschger, Klaus Klaushofer, Jyoti Rai, MaryAnn Weis, David Eyre, Ulrike Schwarze, Peter H Byers
Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by fractures, low bone mass, and skeletal fragility. It most commonly arises from dominantly inherited mutations in the genes COL1A1 and COL1A2 that encode the chains of type I collagen. A number of recent reports have suggested that mutations affecting the carboxyl-terminal propeptide cleavage site in the products of either COL1A1 or COL1A2 give rise to a form of OI characterized by unusually dense bones. We have assembled clinical, biochemical, and molecular data from 29 individuals from 8 families with 7 different mutations affecting the C-propeptide cleavage site...
April 18, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29669173/second-generation-syk-inhibitor-entospletinib-ameliorates-fully-established-inflammation-and-bone-destruction-in-the-cherubism-mouse-model
#2
Tetsuya Yoshimoto, Tatsuhide Hayashi, Toshio Kondo, Mizuho Kittaka, Ernst J Reichenberger, Yasuyoshi Ueki
Cherubism is a craniofacial disorder characterized by maxillary and mandibular bone destruction. Gain-of-function mutations in the SH3-domain binding protein 2 (SH3BP2) are responsible for the excessive bone resorption caused by fibrous inflammatory lesions. A homozygous knock-in (KI) mouse model for cherubism (Sh3bp2KI/KI ) develops autoinflammation resulting in systemic bone destruction. While administration of the TNF-α blocker etanercept to neonatal Sh3bp2KI/KI mice prevented the disease onset, this therapy was not effective for adult Sh3bp2KI/KI mice or human cherubism patients who already had lesions...
April 18, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29669167/scoliosis-in-fibrous-dysplasia-mccune-albright-syndrome-factors-associated-with-curve-progression-and-effects-of-bisphosphonates
#3
Jason A Berglund, Sri Harsha Tella, Kaitlyn F Tuthill, Lauren Kim, Lori C Guthrie, Scott M Paul, Robert Stanton, Michael T Collins, Alison M Boyce
BACKGROUND: Scoliosis is a complication of fibrous dysplasia/McCune-Albright syndrome (FD/MAS), however risk factors and long-term outcomes are unknown. Bisphosphonates are commonly used; however, it is unknown whether their use decrease the risk of progressive scoliosis. METHODS: Clinical data from the NIH cohort study was reviewed. Cobb angles were measured, and variables associated with scoliosis progression were identified. RESULTS: Of 138 subjects with available radiographs, 84 (61%) had scoliosis, including 55 (65%) classified as mild (Cobb angle >10 to ≤30°), 11 (13%) as moderate (>30 to ≤45°), and 18 (22%) as severe (>45°)...
April 18, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29665140/review-functional-and-hybrid-imaging-of-bone-metastases
#4
Gary J R Cook, Vicky Goh
Bone metastases are common, cause significant morbidity and impact on healthcare resources. While radiographs, computed tomography (CT), magnetic resonance imaging (MRI) and bone scintigraphy have frequently been used for staging the skeleton, it is recognized that these methods are insensitive and non-specific for monitoring treatment response in a clinically relevant time frame. We summarize several recent reports on new functional and hybrid imaging methods including single photon emission CT / CT, positron emission tomography / CT and whole-body MRI with diffusion-weighted imaging...
April 17, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29665134/the-role-of-bmp2-in-the-maturation-and-maintenance-of-the-murine-knee-joint
#5
Laura W Gamer, Steven Pregizer, Jackson Gamer, Marina Feigenson, Andreia Ionescu, Qing Li, Lin Han, Vicki Rosen
Bone morphogenetic proteins (BMPs) are key regulators of skeletal development, growth and repair. While BMP signaling is required for synovial joint formation and is also involved in preserving joint function after birth, the role of specific BMP ligands in adult joint homeostasis remains unclear. The purpose of this study was to define the role of Bmp2 in the morphogenesis and maintenance of the knee joint. To do this, we first created Bmp2-LacZ and Gdf5-LacZ knock-in mice and compared their expression patterns in the developing and postnatal murine knee joint...
April 17, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29665087/25-hydroxyvitamin-d-threshold-for-the-effects-of-vitamin-d-supplements-on-bone-density-secondary-analysis-of-a-randomized-controlled-trial
#6
Helen M Macdonald, Ian R Reid, Gregory D Gamble, William D Fraser, Jonathan C Tang, Adrian D Wood
Most trials of vitamin D supplementation have shown no benefits on bone density (BMD), though severe vitamin D deficiency causes osteomalacia which is associated with profound BMD deficits. Recently, the ViDA-BMD study from New Zealand demonstrated a threshold of baseline 25-hydroxyvitamin D (30 nmol/L) below which vitamin D supplementation did benefit BMD. We have now re-examined data from a similar trial in Aberdeen to determine whether a baseline 25-hydroxyvitamin D threshold of 30 nmol/L is also observed in that database...
April 17, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29665086/severely-impaired-bone-material-quality-in-chihuahua-zebrafish-resembles-classical-dominant-human-osteogenesis-imperfecta
#7
Imke A K Fiedler, Felix N Schmidt, Eva M Wölfel, Christine Plumeyer, Petar Milovanovic, Roberta Gioia, Francesca Tonelli, Hrishikesh A Bale, Katharina Jähn, Roberta Besio, Antonella Forlino, Björn Busse
Excessive skeletal deformations and brittle fractures in the vast majority of patients suffering from osteogenesis imperfecta (OI) are a result of substantially reduced bone quality. Since the mechanical competence of bone is dependent on the tissue characteristics at small length scales, it is of crucial importance to assess how osteogenesis imperfecta manifests at the micro- and nanoscale of bone. In this context, the Chihuahua (Chi/ +) zebrafish, carrying a heterozygous glycine substitution in the α1 chain of collagen type I, has recently been proposed as suitable animal model of classical dominant OI, showing skeletal deformities, altered mineralization patterns and a smaller body size...
April 17, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29665068/osteoporosis-and-hip-fracture-risk-from-routine-computed-tomography-scans-the-fracture-osteoporosis-and-ct-utilization-study-focus
#8
Annette L Adams, Heidi Fischer, David L Kopperdahl, David C Lee, Dennis M Black, Mary L Bouxsein, Shireen Fatemi, Sundeep Khosla, Eric S Orwoll, Ethel S Siris, Tony M Keaveny
Methods now exist for analyzing previously taken clinical computed tomography (CT) scans to measure a dual-energy X-ray absorptiometry (DXA)-equivalent bone mineral density (BMD) at the hip and a finite element analysis-derived femoral strength. We assessed the efficacy of this "biomechanical CT" (BCT) approach for identifying patients at high risk of incident hip fracture in a large clinical setting. Using a case-cohort design sampled from 111,694 women and men aged 65 or older who had a prior hip CT scan, a DXA within 3 years of the CT, and no prior hip fracture, we compared those with subsequent hip fracture (n = 1959) with randomly selected sex-stratified controls (n = 1979) and analyzed their CT scans blinded to all other data...
April 17, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29637658/how-can-we-improve-osteoporosis-care-a-systematic-review-and-meta-analysis-of-the-efficacy-of-quality-improvement-strategies-for-osteoporosis
#9
Smita Nayak, Susan L Greenspan
Although osteoporosis affects 10 million people in the United States, screening and treatment rates remain low. We performed a systematic review and meta-analysis of the efficacy of quality improvement strategies to improve osteoporosis screening (bone mineral density (BMD) /dual-energy x-ray absorptiometry (DXA) testing) and/or treatment (pharmacotherapy) initiation rates. We developed broad literature search strategies for PubMed, Embase, and Cochrane Library databases, and applied inclusion/exclusion criteria to select relevant studies...
April 10, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29637625/genome-wide-association-study-identifies-cxcl-family-members-as-partial-mediators-of-lps-induced-periodontitis
#10
Sarah Hiyari, Elissa Green, Calvin Pan, Soma Lari, Mina Davar, Richard Davis, Paulo M Camargo, Sotirios Tetradis, Aldons J Lusis, Flavia Q Pirih
Periodontitis (PD) is characterized by bacterial infection and inflammation of tooth supporting structures and can lead to tooth loss. PD affects ∼47% of the U.S. population over 30 and has a heritability of about 50%. While the host immunoinflammatory response and genetic background play a role, little is known of the underlying genetic factors. We examined natural genetic variation in Lipopolysaccharide (LPS)-induced PD across a panel of inbred mouse strains, the Hybrid Mouse Diversity Panel (HMDP). We observed a strain-dependent 6-fold difference in LPS-induced bone loss across the HMDP with a heritability of 53%...
April 10, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29637622/hypomagnesemia-during-teriparatide-treatment-in-osteoporosis-incidence-and-determinants
#11
Marie-Josée Bégin, Louis-Georges Ste-Marie, Louis Coupal, Jean Ethier, Agnès Räkel
BACKGROUND: In our clinical experience, we have encountered patients who developed hypomagnesemia after the introduction of teriparatide. Some trials have reported hypomagnesemia as an adverse event during teriparatide treatment, but this issue had never been studied specifically. METHODS: Our objective was twofold: (1) determine the incidence of hypomagnesemia (serum magnesium < 0.7 mmol/L) associated with teriparatide in a retrospective cohort and (2) identify the predisposing factors to hypomagnesemia in this cohort...
April 10, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29624737/waif1-is-a-cell-surface-cthrc1-binding-protein-coupling-bone-resorption-and-formation
#12
Kazuhiko Matsuoka, Yukihiro Kohara, Yoshinori Naoe, Atsushi Watanabe, Masako Ito, Kyoji Ikeda, Sunao Takeshita
The osteoclast-derived collagen triple helix repeat containing 1 (CTHRC1) protein stimulates osteoblast differentiation, but the underlying mechanism remains unclear. Here, we identified WAIF1 (Wnt-activated inhibitory factor 1)/5T4 as a cell-surface protein binding CTHRC1. The WAIF1-encoding Tpbg gene, which is abundantly expressed in the brain and bone but not in other tissues, showed the same expression pattern as Cthrc1. Tpbg downregulation in marrow stromal cells reduced CTHRC1 binding and CTHRC1-stimulated alkaline phosphatase activity through PKCδ activation of MEK/ERK, suggesting a novel WAIF1/PKCδ/ERK pathway triggered by CTHRC1...
April 6, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29624728/respective-role-of-membrane-and-nuclear-estrogen-receptor-er-%C3%AE-in-the-mandible-of-growing-mice-implications-for-er%C3%AE-modulation
#13
A Vinel, A E Coudert, M Buscato, M C Valera, Ostertag Agnès, J A Katzenellenbogen, B S Katzenellenbogen, A Berdal, S Babajko, J F Arnal, C Fontaine
Estrogens play an important role in bone growth and maturation as well as in the regulation of bone turnover in adults. Although the effects of 17β-estradiol (E2) are well documented in long bones and vertebrae, little is known regarding its action in the mandible. E2 actions could be mediated by estrogen receptor (ER) α or β. ERs act primarily as transcriptional factors through two activation functions (AF)-1 and 2, but they can also elicit membrane-initiated steroid signaling (MISS). The aim of the present study was to define ER pathways involved in E2 effects on mandibular bone...
April 6, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29624726/-differential-mortality-and-the-excess-rates-of-hip-fracture-associated-with-type-2-diabetes-accounting-for-competing-risks-in-fracture-prediction-matters
#14
C Tebé, D Martinez-Laguna, V Moreno, C Cooper, A Diez-Perez, G S Collins, D Prieto-Alhambra
Type 2 diabetes (T2DM) is associated with a reduced life expectancy. Latest published evidence suggests an increased risk of fractures among T2DM patients. We conducted a population-based cohort study to determine the impact of mortality as a competing risk in the study of the association between T2DM and hip fracture rates. Participants were all diagnosed T2DM patients registered in the SIDIAP database aged 65 years and older; up to two non-T2DM were matched by age, sex, and primary care facility. We used Cox regression models to estimate cause-specific Hazard Ratio (HR) of death or hip fracture according to T2DM status...
April 6, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29624722/volumetric-bone-mineral-density-and-failure-load-of-distal-limbs-predict-incident-clinical-fracture-independent-of-frax-and-clinical-risk-factors-among-older-men
#15
Lisa Langsetmo, Katherine W Peters, Andrew J Burghardt, Kristine E Ensrud, Howard A Fink, Peggy M Cawthon, Jane A Cauley, John T Schousboe, Elizabeth Barrett-Connor, Eric S Orwoll
Our objective was to determine the associations of peripheral bone strength and microarchitecture with incident clinical and major osteoporotic fracture among older men after adjusting for major clinical risk factors. We used a prospective cohort study design with data from 1794 men (mean age 84.4 years) in the Osteoporotic Fractures in Men (MrOS) study. Eligible men attended the Year 14 visit, had high resolution peripheral quantitative computed tomography (HR-pQCT) scans of the distal radius and distal or diaphyseal tibia, DXA measured BMD, and were followed for mean 1...
April 6, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29603359/bariatric-surgery-weighing-in-on-bone-loss
#16
Elaine W Yu
Over 650 million adults worldwide have obesity,1 a condition that is associated with many health hazards. The advent of bariatric surgery has provided a major boon for patients struggling with the severest forms of obesity (body mass index, BMI ≥40 kg/m2 , or ≥35 kg/m2 with obesity comorbidities).
March 30, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29578618/high-impact-mechanical-loading-increases-bone-material-strength-in-postmenopausal-women-a-3-month-intervention-study
#17
Daniel Sundh, Martin Nilsson, Michail Zoulakis, Courtney Pasco, Melis Yilmaz, Galateia J Kazakia, Martin Hellgren, Mattias Lorentzon
Bone adapts to loading in several ways, including redistributing bone mass, and altered geometry and microarchitecture. Due to previous methodological limitations, it is not known how the bone material strength is affected by mechanical loading in humans. The aim was to investigate the effect of 3-month unilateral high-impact exercise program on bone material properties and microarchitecture in healthy postmenopausal women. A total of 20, healthy and inactive, postmenopausal women (55.6 ± 2.3 years (mean ± standard deviation (SD))) were included and asked to perform an exercise program of daily one-legged jumps (with incremental number, from 3 × 10 to 4 × 20 jumps/day) during three months...
March 26, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29573473/frame-study-the-foundation-effect-of-building-bone-with-1-year-of-romosozumab-leads-to-continued-lower-fracture-risk-after-transition-to-denosumab
#18
Felicia Cosman, Daria B Crittenden, Serge Ferrari, Aliya Khan, Nancy E Lane, Kurt Lippuner, Toshio Matsumoto, Cassandra E Milmont, Cesar Libanati, Andreas Grauer
Romosozumab is a bone-forming agent with a dual effect of increasing bone formation and decreasing bone resorption. In the FRAME study, postmenopausal women with osteoporosis received romosozumab 210 mg s.c. or placebo once monthly for 12 months, followed by denosumab 60 mg s.c. once every 6 months in both groups for 12 months. One year of romosozumab increased spine and hip BMD by 13% and 7%, respectively, and reduced vertebral and clinical fractures with persistent fracture risk reduction upon transition to denosumab over 24 months...
March 24, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29572961/maintenance-of-serum-ionized-calcium-during-exercise-attenuates-parathyroid-hormone-and-bone-resorption-responses
#19
Wendy M Kohrt, Sarah J Wherry, Pamela Wolfe, Vanessa D Sherk, Toby Wellington, Christine M Swanson, Connie M Weaver, Rebecca S Boxer
Exercise can cause a decrease in serum ionized calcium (iCa) and increases in parathyroid hormone (PTH) and bone resorption. We used a novel intravenous iCa clamp technique to determine whether preventing a decline in serum iCa during exercise prevents increases in PTH and carboxy-terminal collagen crosslinks (CTX). Eleven cycling-trained men (aged 18-45 y) underwent two identical 60-minute cycling bouts with infusion of Ca gluconate or saline. Blood sampling for iCa, total calcium (tCa), PTH, CTX, and procollagen type 1 amino-terminal propeptide (P1NP) occurred before, during, and for 4 hours after exercise; results are presented as unadjusted and adjusted for plasma volume shifts (ADJ subscript)...
March 23, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29572955/high-imminent-vertebral-fracture-risk-in-subjects-with-copd-with-a-prevalent-or-incident-vertebral-fracture
#20
Mayke J van Dort, Piet P P M Geusens, Johanna H M Driessen, Elisabeth A P M Romme, Frank W J M Smeenk, Emiel F M Wouters, Joop P W van den Bergh
Subjects with chronic obstructive pulmonary disease (COPD) have an increased risk of vertebral fractures (VFs), however VF incidence is largely unknown. Therefore the aim of our study was to determine the incidence of new and/or worsening VFs in subjects with COPD. Smokers and subjects with COPD (GOLD II-IV) from the ECLIPSE study with complete set of chest CT scans (baseline, one and three years follow-up) to evaluate vertebrae T1 down to L1 were included. If a VF was diagnosed on the last scan, detailed VF assessment of the previous scans was performed...
March 23, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
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