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Bone and mineral disorders

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https://www.readbyqxmd.com/read/28630081/calcium-sensing-receptor-genotype-and-response-to-cinacalcet-in-patients-undergoing-hemodialysis
#1
Sharon M Moe, Leah Wetherill, Brian Scott Decker, Dongbing Lai, Safa Abdalla, Jin Long, Matteo Vatta, Tatiana M Foroud, Glenn M Chertow
BACKGROUND AND OBJECTIVES: We tested the hypothesis that single nucleotide polymorphisms (SNPs) in the calcium-sensing receptor (CASR) alter the response to the calcimimetic cinacalcet. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We analyzed DNA samples in the Evaluation of Cinacalcet HCl Therapy to Lower Cardiovascular Events (EVOLVE) trial, a randomized trial comparing cinacalcet to placebo on a background of usual care. Of the 3883 patients randomized, 1919 (49%) consented to DNA collection, and samples from 1852 participants were genotyped for 18 CASR polymorphisms...
June 19, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28626166/efficacy-of-denosumab-for-osteoporosis-in-three-female-patients-with-osteogenesis-imperfecta
#2
Masashi Uehara, Yukio Nakamura, Jun Takahashi, Mikio Kamimura, Shota Ikegami, Takako Suzuki, Shigeharu Uchiyama, Tomomi Yamaguchi, Tomoki Kosho, Hiroyuki Kato
Osteogenesis imperfecta (OI) is an inherited bone disorder that causes fractures due to impaired production of collagen type I. In recent years, denosumab, a human monoclonal antibody against receptor activator of nuclear factor κB ligand (RANKL), has become widely used as an anti-osteoclastic agent for osteoporosis. This study investigated osteoporotic cases of OI to examine effects of denosumab on bone fragility. This was a retrospective, consecutive case series that included 3 female patients aged 42, 40, and 14 years, respectively...
2017: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28625337/osteogenesis-imperfecta-a-clinical-update
#3
Symeon Tournis, Anastasia D Dede
Osteogenesis imperfecta (OI) is the most common inherited form of bone fragility and includes a heterogenous group of genetic disorders which most commonly result from defects associated with type 1 collagen. 85%-90% of cases are inherited in an autosomal dominant manner and are caused by mutations in the COL1A1 and COL1A2 genes, leading to quantitative or qualitative defects in type 1 collagen. In the last decade, defects in several other proteins involved in the normal processing of type 1 collagen have been described...
June 8, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28623542/identification-of-differentially-expressed-mirnas-associated-with-chronic-kidney-disease-mineral-bone-disorder
#4
Kyung Im Kim, Sohyun Jeong, Nayoung Han, Jung Mi Oh, Kook-Hwan Oh, In-Wha Kim
The purpose of this study is to characterize a meta-signature of differentially expressed mRNA in chronic kidney disease (CKD) to predict putative microRNA (miRNA) in CKD-mineral bone disorder (CKD-MBD) and confirm the changes in these genes and miRNA expression under uremic conditions by using a cell culture system. PubMed searches using MeSH terms and keywords related to CKD, uremia, and mRNA arrays were conducted. Through a computational analysis, a meta-signature that characterizes the significant intersection of differentially expressed mRNA and expected miRNAs associated with CKD-MBD was determined...
June 14, 2017: Frontiers of Medicine
https://www.readbyqxmd.com/read/28616217/is-chronic-kidney-disease-mineral-and-bone-disorder-associated-with-the-presence-of-endothelial-progenitor-cells-with-a-calcifying-phenotype
#5
Giuseppe Cianciolo, Irene Capelli, Maria Cappuccilli, Anna Scrivo, Chiara Donadei, Antonio Marchetti, Paola Rucci, Gaetano La Manna
Background: Chronic kidney disease-mineral and bone disorder (CKD-MBD) has been implicated in vascular calcification pathogenesis. CKD-MBD results in alterations in the number and function of circulating endothelial progenitor cells (EPCs), physiological regulators of angiogenesis and vessel repair, commonly defined as proangiogenic progenitor cells (PACs) by the antigen pattern CD34+CD133+KDR+CD45- and putative EPCs by the pattern CD34+CD133-KDR+CD45-. These cells might acquire a calcifying phenotype in CKD-MBD, expressing mineralization biomarkers...
June 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/28615507/genetic-evaluations-of-chinese-patients-with-odontohypophosphatasia-resulting-from-heterozygosity-for-mutations-in-the-tissue-non-specific-alkaline-phosphatase-gene
#6
Jia Wan, Li Zhang, Tang Liu, Yewei Wang
BACKGROUND: Hypophosphatasia is a rare heritable metabolic disorder characterized by defective bone and tooth mineralization accompanied by a deficiency of tissue-non-specific (liver/bone/kidney) isoenzyme of alkaline phosphatase activity, caused by a number of loss-of-function mutations in the alkaline phosphatase liver type gene. We seek to explore the clinical manifestations and identify the mutations associated with the disease in a Chinese odonto- hypophosphatasia family. RESULTS: The proband and his younger brother affected with premature loss of primary teeth at their 2-year-old...
May 23, 2017: Oncotarget
https://www.readbyqxmd.com/read/28606051/comparison-of-bone-mineral-density-in-common-variable-immunodeficiency-and-x-linked-agammaglobulinaemia-patients
#7
Ali Mohebbi, Gholamreza Azizi, Naeimeh Tavakolinia, Mehdi Karimipour, Fatemeh Kiaee, Reza Yazdani, Sareh Sadat Ebrahimi, Hosein Rafiemanesh, Vahid Ziaee, Hassan Abolhassani, Asghar Aghamohammadi, Farzaneh Abbasi, Fatemeh Sayarifard, Mehran Ebrahimi, Javad Tafaroji
BACKGROUND: Primary antibody deficiency (PAD) is the most common group of primary immunodeficiency disorders, resulting from different defects in development and function of B cell lineage. Common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA) are two of the major types of PADs. Optimal growth and subsequently bone health could potentially compromise due to the interference of several factors in PAD with childhood onset. In the present study, our aim was to evaluate bone mineral density (BMD) of patients with CVID and XLA...
June 11, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/28603900/mitochondrial-point-mutation-m-3243a%C3%A2-%C3%A2-g-associates-with-lower-bone-mineral-density-thinner-cortices-and-reduced-bone-strength-a-case-control-study
#8
Jakob Høgild Langdahl, Anja Lisbeth Frederiksen, Stinus Jørn Hansen, Per Heden Andersen, Knud Bonnet Yderstraede, Morten Dunø, John Vissing, Morten Frost
Mitochondrial dysfunction is associated with several clinical manifestations including diabetes, neurological disorders, renal and hepatic diseases and myopathy. While mitochondrial dysfunction is associated with increased bone resorption and decreased bone formation in mouse models, effects of alterations in mitochondrial function on bone remodelling and mass have not been investigated in humans. We recruited 45 carriers (29 females, 16 males) with the m.3243A > G mutation and healthy controls matched for gender, age, height and menopausal status...
June 11, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28600887/therapeutic-effects-of-fgf23-c-tail-fc-in-a-murine-pre-clinical-model-of-x-linked-hypophosphatemia-via-the-selective-modulation-of-phosphate-reabsorption
#9
Kristen Johnson, Kymberly Levine, Joseph Sergi, Jean Chamoun, Rachel Roach, Jackie Vekich, Mike Favis, Mark Horn, Xianjun Cao, Brian Miller, William Snyder, Dikran Aivazian, William Reagan, Edwin Berryman, Jennifer Colangelo, Victoria Markiewicz, Cedo Bagi, Thomas P Brown, Anthony Coyle, Moosa Mohammadi, Jeanne Magram
Fibroblast growth factor 23 (FGF23) is the causative factor of X-linked hypophosphatemia (XLH), a genetic disorder effecting 1:20,000 that is characterized by excessive phosphate excretion, elevated FGF23 levels and a rickets/osteomalacia phenotype. FGF23 inhibits phosphate reabsorption and suppresses 1α,25-dihydroxyvitamin D (1,25D) biosynthesis, analytes that differentially contribute to bone integrity and deleterious soft tissue mineralization. As inhibition of ligand broadly modulates downstream targets, balancing efficacy and unwanted toxicity is difficult when targeting the FGF23 pathway...
June 10, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28599401/the-frequency-of-bone-fractures-among-patients-with-chronic-kidney-disease-not-on-dialysis-two-year-follow-up
#10
Andreja Figurek, Vlastimir Vlatkovic, Dragan Vojvodic, Branislav Gasic, Milorad Grujicic
INTRODUCTION: Renal osteodystrophy is a severe complication of chronic kidney disease (CKD) that increases morbidity and mortality in these patients. Mineral and bone disorder starts early in CKD and affects the incidence of bone fractures. The aim of this study was to observe the frequency of diverse bone fractures in patients with CKD not on dialysis. METHODS: This cohort study included 68 patients, that were followed during the two-year period. The patients were divided in two cohorts: one that developed bone fractures and the other that did not...
May 22, 2017: Romanian Journal of Internal Medicine, Revue Roumaine de Médecine Interne
https://www.readbyqxmd.com/read/28586603/evaluating-the-risk-of-osteoporosis-through-bone-mass-density
#11
Sayeeda Amber Sayed, Asif Khaliq, Ashar Mahmood
OBJECTIVE: Osteoporosis is a bone disorder, characterized by loss of bone mass density. Osteoporosis affects more than 30% of post-menopausal women. Osteoporosis is often associated with restricted body movement, pain and joint deformities. Early identification and early intervention can help in reducing these complications. The primary objective of this study was to estimate the burden of Osteoporosis in Urban setting of Sindh among women of different age groups and to access the effect of different protective measures that can reduce the risk of Osteoporosis...
October 2016: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28584909/a-review-of-phosphate-binders-in-chronic-kidney-disease-incremental-progress-or-just-higher-costs
#12
REVIEW
Wendy L St Peter, Lori D Wazny, Eric Weinhandl, Katie E Cardone, Joanna Q Hudson
As kidney disease progresses, phosphorus retention also increases, and phosphate binders are used to treat hyperphosphatemia. Clinicians prescribe phosphate binders thinking that reducing total body burden of phosphorus may decrease risks of mineral and bone disorder, fractures, cardiovascular disease, progression of kidney disease, and mortality. Recent meta-analyses suggest that sevelamer use results in lower mortality than use of calcium-containing phosphate binders. However, studies included in meta-analyses show significant heterogeneity, and exclusion or inclusion of specific studies alters results...
June 5, 2017: Drugs
https://www.readbyqxmd.com/read/28582319/osteoporosis-in-childhood
#13
Francesco Vierucci, Giuseppe Saggese, Rolando Cimaz
PURPOSE OF REVIEW: The aim of this review is to highlight recent findings in prevention, diagnosis, and treatment of pediatric osteoporosis. RECENT FINDINGS: Several genes are involved in bone mass acquisition, and various monogenic bone disorders characterized by reduced bone mineral density and increased bone fragility have been recently described. Moreover, many chronic diseases and/or their treatment have been associated with impaired bone mass acquisition. Pediatric osteoporosis should be adequately suspected and properly diagnosed in children at risk of fractures...
June 2, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28580511/effect-of-recent-spinal-cord-injury-on-the-opg-rankl-system-and-its-relationship-with-bone-loss-and-the-response-to-denosumab-therapy
#14
L Gifre, S Ruiz-Gaspà, J L Carrasco, E Portell, J Vidal, A Muxi, A Monegal, N Guañabens, P Peris
There is marked bone loss after spinal cord injury (SCI); however, its pathogenesis and clinical management remain unclear. The increased circulating levels of receptor activator of nuclear factor kB ligand (RANKL) associated with bone loss shortly after SCI and the prevention of bone loss with denosumab treatment suggest a contributory role of RANKL in SCI-induced osteoporosis. INTRODUCTION: Bone turnover and bone loss are markedly increased shortly after SCI. However, the pathogenesis and clinical management of this process remain unclear, especially the role of the osteoprotegerin (OPG)/RANKL system in this disorder...
June 4, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28580401/transient-osteoporosis-not-just-the-hip-to-worry-about
#15
Nicola Berman, Howard Brent, Gregory Chang, Stephen Honig
Transient osteoporosis (TO) is a clinical syndrome characterized by joint pain and the presence of bone marrow edema on magnetic resonance imaging (MRI), both of which spontaneously resolve over time. Transient osteoporosis most commonly affects the hip, but also may involve other lower extremity sites. TO likely represents a disorder that may be monoarticular or "migratory" with involvement of two or more lower extremity sites sequentially affected over a number of months. We report on two cases of transient osteoporosis, one involving the knee and one involving the hip, demonstrating the utility of serial bone mineral density measurements at both sites...
December 2016: Bone Reports
https://www.readbyqxmd.com/read/28573386/uremic-toxicity-and-bone-in-ckd
#16
REVIEW
Suguru Yamamoto, Masafumi Fukagawa
Patients with chronic kidney disease (CKD), especially those on dialysis treatment, are at high risk of bone fracture. In CKD-mineral and bone disorder (CKD-MBD), secondary hyperparathyroidism in patients with advanced CKD induces bone abnormalities, and skeletal resistance to parathyroid hormone (PTH) starts in the early stages of kidney disease. Uremic toxins such as indoxyl sulfate and p-cresyl sulfate reduce the expression of PTH receptor as well as PTH-induced cyclic adenosine 3',5' monophosphate production in osteoblasts...
June 1, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28571965/bone-health-in-down-syndrome
#17
REVIEW
Marta García-Hoyos, José Antonio Riancho, Carmen Valero
Patients with Down syndrome have a number of risk factors that theoretically could predispose them to osteoporosis, such as early aging, development disorders, reduced physical activity, limited sun exposure, frequent comorbidities and use of drug therapies which could affect bone metabolism. In addition, the bone mass of these people may be affected by their anthropometric and body composition peculiarities. In general terms, studies in adults with Down syndrome reported that these people have lower areal bone mineral density (g/cm(2)) than the general population...
May 29, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28565845/significance-of-new-blood-vessels-in-the-pathogenesis-of-temporomandibular-joint-osteoarthritis
#18
Jianlin Liu, Juan Dai, Yansong Wang, Siyu Lai, Suwen Wang
We studied the significance of new blood vessels in the pathogenesis of temporomandibular joint osteoarthritis (TMJOA). Fifteen 8-week-old female Sprague-Dawley rats were selected to establish TMJOA models of gradually induced occlusal disorders. Five rats were sacrificed at 4, 8 and 16 weeks, and histological exam was conducted along with micro-computed tomography observation on the condyle specimen. The distribution and number of new blood vessels breaking were observed through the tidemark through CD34 immunofluorescence staining...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28562264/adult-consequences-of-self-limited-delayed-puberty
#19
REVIEW
Jia Zhu, Yee-Ming Chan
Delayed puberty is a common condition defined as the lack of sexual maturation by an age ≥2 SD above the population mean. In the absence of an identified underlying cause, the condition is usually self-limited. Although self-limited delayed puberty is largely believed to be a benign developmental variant with no long-term consequences, several studies have suggested that delayed puberty may in fact have both harmful and protective effects on various adult health outcomes. In particular, height and bone mineral density have been shown to be compromised in some studies of adults with a history of delayed puberty...
May 18, 2017: Pediatrics
https://www.readbyqxmd.com/read/28561851/reactivity-of-u-associated-osteopontin-with-lactoferrin-a-one-to-many-complex
#20
Sarah Ameziane-Le Hir, Damien Bourgeois, Christian Basset, Agnès Hagège, Claude Vidaud
Uranium is the heaviest natural element, mainly found in aqueous medium as the hexavalent uranyl ion (UO2(2+)). Bones are the main organs in which uranium accumulates, depending on as yet unknown molecular and cellular mechanisms. Recently, it has been revealed that osteopontin (OPN), a protein involved in bio-mineralization processes, and its main naturally occurring cleaved form (fOPN), have nanomolar affinities for UO2(2+). The binding of UO2(2+) is due to both the phosphorylation sites and acidic residues of these proteins and is accompanied by a slight gain in secondary structure...
May 31, 2017: Metallomics: Integrated Biometal Science
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