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Mineral bone disorder

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https://www.readbyqxmd.com/read/28807865/novel-compound-heterozygous-mutations-identified-by-whole-exome-sequencing-in-a-japanese-patient-with-geroderma-osteodysplastica
#1
Ryojun Takeda, Masaki Takagi, Hiroyuki Shinohara, Hiroshi Futagawa, Satoshi Narumi, Tomonobu Hasegawa, Gen Nishimura, Hiroshi Yoshihashi
Geroderma osteodysplastica (GO) is a subtype of cutis laxa syndrome characterized by congenital wrinkly skin, a prematurely aged face, extremely short stature, and osteoporosis leading to recurrent fractures. GO exhibits an autosomal recessive inheritance pattern and is caused by loss-of-function mutations in GORAB, which encodes a protein important for Golgi-related transport. Using whole exome sequencing, we identified novel compound heterozygous nonsense mutations in the GORAB in a GO patient. The patient was a 14-year-old Japanese boy...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28805201/-osteoporosis-and-vascular-calcification-in-rheumatoid-arthritis-the-role-of-osteoprotegerin-and-sclerostin
#2
REVIEW
Magdalena Krajewska-Włodarczyk, Tomasz Stompór
Disorders of bone tissue metabolism and increased frequency of cardiovascular diseases are among the well-known, extra-articular complications of rheumatoid arthritis (ra). The mechanisms leading to local and generalized loss of bone tissue as well as those promoting calcification of vessels are similar. Recently, a great interest has aroused among the studies related to the meaning of the RANKL/RANK/OPG system and the Wnt/β-catenin signaling pathway, as biological links between the bone and vascular systems...
July 21, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28795324/the-fgf23-klotho-axis-and-cardiac-tissue-doppler-imaging-in-pediatric-chronic-kidney-disease-a-prospective-cohort-study
#3
Ylva Tranæus Lindblad, Hannes Olauson, Georgios Vavilis, Ulf Hammar, Maria Herthelius, Jonas Axelsson, Peter Bárány
BACKGROUND: Chronic kidney disease-associated mineral bone disorder (CKD-MBD) is common in pediatric kidney disease patients and a risk factor for future cardiovascular disease (CVD). Fibroblast growth factor-23 (FGF23) and Klotho are novel key players in CKD-MBD, and has been suggested to be involved in the development of CVD. METHODS: This prospective cohort study included 74 pediatric patients; 31 with CKD (age range 0.8-18.8 years, glomerular filtration rate (GFR) range 9-68 mL/min/1...
August 9, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28782882/the-expansion-of-heterotopic-bone-in-fibrodysplasia-ossificans-progressiva-is-activin-a-dependent
#4
Jaymin Upadhyay, LiQin Xie, Lily Huang, Nanditha Das, Rachel C Stewart, Morgan C Lyon, Keryn Palmer, Saathyaki Rajamani, Chris Graul, Merryl Lobo, Tyler J Wellman, Edward J Soares, Matthew D Silva, Jacob Hesterman, Lili Wang, Xialing Wen, Xiaobing Qian, Kalyan Nannuru, Vincent Idone, Andrew J Murphy, Aris N Economides, Sarah J Hatsell
Fibrodysplasia Ossificans Progressiva (FOP) is a rare autosomal dominant disorder that is characterized by episodic yet cumulative heterotopic ossification (HO) in skeletal muscles, tendons, and ligaments over a patient's lifetime. FOP is caused by missense mutations in the type I Bone Morphogenetic Protein (BMP) receptor ACVR1. We have determined that the formation of heterotopic bone in FOP requires activation of mutant ACVR1 by Activin A, in part by showing that prophylactic inhibition of Activin A blocks HO in a mouse model of FOP...
August 7, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28764922/tissue-specific-mineralization-defects-in-the-periodontium-of-the-hyp-mouse-model-of-x-linked-hypophosphatemia
#5
Benjamin R Coyac, Guillaume Falgayrac, Brigitte Baroukh, Lotfi Slimani, Jérémy Sadoine, Guillaume Penel, Martin Biosse-Duplan, Thorsten Schinke, Agnès Linglart, Marc D McKee, Catherine Chaussain, Claire Bardet
X-linked hypophosphatemia (XLH) is a dento-osseous disorder caused by inactivating mutations in the PHEX gene, leading to renal phosphate wasting and hypophosphatemia, and impaired mineralization of bones and teeth. In the oral cavity, recent reports suggest a higher susceptibility of XLH patients to periodontitis, where patients present with impaired tooth cementum - a bone-like tissue involved in tooth attachment to the jaw bones and post-eruption tooth positioning - and a higher frequency of intrabony defects...
July 29, 2017: Bone
https://www.readbyqxmd.com/read/28760231/biochemical-testing-relevant-to-bone
#6
REVIEW
Chee Kian Chew, Bart L Clarke
Laboratory biochemical testing is critical to the clinical understanding of bone disorders. Patients with skeletal diseases have underlying themes in their pathophysiology that would be impossible to detect without biochemical assessment of serum and urine minerals, vitamin D, parathyroid hormone, parathyroid hormone-related peptide, and bone turnover markers. Bone disorders are caused by abnormalities in signaling pathways that affect bone formation and resorption. Therapies for common bone diseases were developed in direct response to underlying biochemical abnormalities...
September 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28759709/reconstruction-method-as-an-independent-risk-factor-for-postoperative-bone-mineral-density-loss-in-gastric-cancer
#7
Taisuke Imamura, Shuhei Komatsu, Daisuke Ichikawa, Toshiyuki Kosuga, Takeshi Kubota, Kazuma Okamoto, Hirotaka Konishi, Atsushi Shiozaki, Hitoshi Fujiwara, Eigo Otsuji
BACKGROUND AND AIM: No study has compared the incidence of postoperative bone metabolic disorders between Billroth-I (B-I) and Roux-en-Y (R-Y) reconstructions after distal gastrectomy (DG) for gastric cancer (GC). In this study, we wished to examine the impact of reconstruction method on postoperative bone mineral density (BMD) loss. METHOD: We investigated a total of 148 consecutive patients who underwent DG with B-I or R-Y reconstruction for stage I GC between 2008 and 2012...
July 31, 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28759632/significant-liver-fibrosis-assessed-using-liver-transient-elastography-is-independently-associated-with-low-bone-mineral-density-in-patients-with-non-alcoholic-fatty-liver-disease
#8
Gyuri Kim, Kwang Joon Kim, Yumie Rhee, Sung-Kil Lim
BACKGROUND: Metabolic bone disorders frequently occur in patients with chronic liver disease; however, the association between liver fibrosis and bone mineral density in patients with non-alcoholic fatty liver disease (NAFLD) is unclear. METHODS: This is a cross-sectional analysis of 231 asymptomatic subjects (160 women, 61.6 years old) from a university hospital setting, between February 2012 and December 2014. Bone mineral density (BMD) was measured at the lumbar spine, femur neck, and total hip using dual-energy X-ray absorptiometry (DXA)...
2017: PloS One
https://www.readbyqxmd.com/read/28755448/short-term-in%C3%A2-vivo-precision-of-whole-body-composition-measurements-on-the-horizon-a-densitometer
#9
Michael Nowitz, Paula Monahan
INTRODUCTION: Dual-energy X-ray absorptiometry (DXA) is increasingly being used to assess abnormalities in body composition associated with a wide variety of conditions including obesity, sarcopenia, diabetes, anorexia, human immunodeficiency virus lipodystrophy, malabsorption and neuromuscular disorders. The objective of this study was to determine the short-term in vivo precision and least significant change in serial body composition measurements provided by the Hologic Horizon A densitometer as there is no published, peer reviewed body composition precision data on Horizon scanners in the medical literature...
July 29, 2017: Journal of Medical Imaging and Radiation Oncology
https://www.readbyqxmd.com/read/28748891/study-of-chronic-kidney-disease-mineral-bone-disorders-in-newly-detected-advanced-renal-failure-patients-a-hospital-based-cross-sectional-study
#10
Praveen Kumar Etta, R K Sharma, Amit Gupta
We aim to evaluate the disturbances in mineral metabolism, abnormalities in bone mineral density (BMD), and extraskeletal calcification in newly detected, untreated predialysis stage 4 and 5 chronic kidney disease (CKD) patients at a tertiary care hospital in North India. This is cross-sectional observational study. A total of 95 (68 males, 27 females) newly detected patients underwent clinical evaluation, biochemical assessment [serum calcium, phosphorus, alkaline phosphatase (ALP), albumin, creatinine, intact parathyroid hormone (iPTH), 25- hydroxyvitamin D (25(OH)D)], BMD measurement (at spine, hip, and forearm) by dual-energy X-ray absorptiometry (DXA), lateral abdominal radiograph [for abdominal aortic calcification (AAC)], skeletal survey (to look for any abnormality including fractures), and echocardiography [for any cardiac valvular calcification (CVC)]...
July 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28748877/vitamin-d-levels-and-other-biochemical-parameters-of-mineral-bone-disorders-and-their-association-with-diastolic-dysfunction-and-left-ventricular-mass-in-young-nondiabetic-adult-patients-with-chronic-kidney-disease
#11
Satyendra Kumar Sonkar, Mohit Bhutani, Gyanendra Kumar Sonkar, Sant Kumar Pandey, Sharad Chandra, Vivek Bhosale
Cardiovascular disease (CVD) is the leading cause of morbidity and mortality in patients with end-stage renal disease. Chronic kidney disease (CKD)-associated cardiovascular mortality is more prevalent in those with diastolic heart failure and is an early predictor, while increased left ventricular mass (LVM) is a strong independent risk factor. Hypovitaminosis D is extensively being studied as a nontraditional risk factor for CVD. The aim of the present study is to look at the association of Vitamin D and other parameters of mineral bone disorder (MBD) with diastolic dysfunction and LVM in nondiabetic young adult patients with CKD...
July 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28739045/filamin-b-the-next-hotspot-in-skeletal-research
#12
REVIEW
Qiming Xu, Nan Wu, Lijia Cui, Zhihong Wu, Guixing Qiu
Filamin B (FLNB) is a large dimeric actin-binding protein which crosslinks actin cytoskeleton filaments into a dynamic structure. Up to present, pathogenic mutations in FLNB are solely found to cause skeletal deformities, indicating the important role of FLNB in skeletal development. FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique skeletal abnormalities...
July 20, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28736564/characterization-of-an-animal-model-to-study-risk-factors-and-new-therapies-for-the-cardiorenal-syndrome-a-major-health-issue-in-our-aging-population
#13
Anja Verhulst, Ellen Neven, Patrick C D'Haese
BACKGROUND: The cardiorenal syndrome (CRS) is a major health problem in our aging population. The term was introduced to cover disorders of the kidneys and heart, whereby dysfunction of one organ may induce dysfunction of the other. As the natural history of the CRS is mostly slow, hence difficult to explore in clinical trials, adequate animal models combining cardiovascular and renal disease are required. Therefore, we developed and characterized a usable model for CRS type 4, i.e. chronic kidney disease (CKD) causing cardiac dysfunction...
June 2017: Cardiorenal Medicine
https://www.readbyqxmd.com/read/28734710/use-of-trabecular-bone-score-tbs-as-a-complementary-approach-to-dual-energy-x-ray-absorptiometry-dxa-for-fracture-risk-assessment-in-clinical-practice
#14
Enisa Shevroja, Olivier Lamy, Lynn Kohlmeier, Fjorda Koromani, Fernando Rivadeneira, Didier Hans
Osteoporosis is a common bone disease characterized by low bone mass and altered bone microarchitecture, resulting in decreased bone strength with an increased risk of fractures. In clinical practice, physicians can assess the risk of fracture for a patient based on several risk factors. Some such as age, weight, and history of fractures after 50 years of age, parental fracture, smoking status, and alcohol intake are incorporated into FRAX, an assessment tool that estimates the 10-year probability of hip fracture and major osteoporotic fractures based on the individual's risk factors profile...
July 19, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28733716/osteosarcopenia-where-bone-muscle-and-fat-collide
#15
REVIEW
H P Hirschfeld, R Kinsella, G Duque
As the world's population ages, the prevalence of chronic diseases increases. Sarcopenia and osteoporosis are two conditions that are associated with aging, with similar risk factors that include genetics, endocrine function, and mechanical factors. Additionally, bone and muscle closely interact with each other not only anatomically, but also chemically and metabolically. Fat infiltration, a phenomenon observed in age-related bone and muscle loss, is highly prevalent and more severe in sarcopenic and osteoporotic subjects...
July 22, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28728941/comparison-of-calcimimetic-r568-and-calcitriol-in-mineral-homeostasis-in-the-hyp-mouse-a-murine-homolog-of-x-linked-hypophosphatemia
#16
Maren Leifheit-Nestler, Julia Kucka, Emi Yoshizawa, Geert Behets, Patrick D'Haese, Christian Bergen, Martin Meier, Dagmar-Christiane Fischer, Dieter Haffner
X-linked hypophosphatemia (XLH) caused by mutations in the Phex gene is the most common human inherited phosphate wasting disorder characterized by enhanced synthesis of fibroblast growth factor 23 (FGF23) in bone, renal phosphate wasting, 1,25(OH)2D3 (1,25D) deficiency, rickets and osteomalacia. Here we studied the effects of calcimimetic R568 and calcitriol treatment in the Hyp mouse, a murine homolog of XLH. We hypothesized that mineral homeostasis is differentially affected by R568 and 1,25D with respect to the PTH-vitamin D-FGF23-Klotho axis and bone health...
July 18, 2017: Bone
https://www.readbyqxmd.com/read/28728874/profile-of-chronic-kidney-disease-related-mineral-bone-disorders-in-newly-diagnosed-advanced-predialysis-diabetic-kidney-disease-patients-a-hospital-based-cross-sectional-study
#17
S Ray, A M Beatrice, A Ghosh, S Pramanik, R Bhattacharjee, S Ghosh, A Raychaudhury, S Mukhopadhyay, S Chowdhury
AIM: Chronic kidney disease related-mineral bone disorder (CKD-MBD) has been poorly studied in pre-dialysis Indian CKD population. There are limited data on the pattern of these disturbances in diabetic CKD patients. Therefore, a study was conducted to find out the profile of mineral bone disorders in T2DM patients with pre-dialysis CKD. METHODS: In this cross-sectional design, diabetic patients with newly-diagnosed stage 4 and 5 CKD were evaluated. Serum levels of calcium, phosphorus, intact parathyroid hormone (iPTH), 25 hydroxy vitamin D and total alkaline phosphatase (ALP) were measured in all patients...
July 8, 2017: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/28722515/construction-of-a-plga-based-targeted-sirna-delivery-system-for-treatment-of-osteoporosis
#18
Deniz Sezlev Bilecen, Jose Carlos Rodriguez-Cabello, Hasan Uludag, Vasif Hasirci
Osteoporosis is a systemic skeletal disorder which occurs when the bone turnover balance is disrupted. With the identification of the genes involved in the pathogenesis of the disease, studies on development of new osteoporosis treatments has intensified. RNA interference (RNAi) mechanism uses short interfering RNA (siRNA) to knockdown disease related gene expression as a treatment approach. Targeting while protecting siRNA against hydrolysis by nucleases in vivo is, however, challenging. The maintenance of therapeutic plasma level is also hampered by the clearance of siRNA from the body...
July 19, 2017: Journal of Biomaterials Science. Polymer Edition
https://www.readbyqxmd.com/read/28721611/bone-targeting-parathyroid-hormone-conjugates-outperform-unmodified-pth-in-the-anabolic-treatment-of-osteoporosis-in-rats
#19
Yang Yang, Ali Aghazadeh-Habashi, Arash Panahifar, Yuchin Wu, Krishna H Bhandari, Michael R Doschak
Synthetic parathyroid hormone (PTH) is clinically indicated for the treatment of osteoporosis, through its anabolic effects on parathyroid hormone receptors (PTHRs), located on osteoblast cells. However, the bioavailability of PTH for bone cells is restricted by the short half-life of PTH and the widespread distribution of PTHRs in non-skeletal tissues. To impart affinity for mineralized bone surfaces, bisphosphonate (BP)-mediated PTH analogues were synthesized, characterized, and evaluated in vitro and in vivo...
August 2017: Drug Delivery and Translational Research
https://www.readbyqxmd.com/read/28720774/a-novel-fluorescent-probe-based-flow-cytometric-assay-for-mineral-containing-nanoparticles-in-serum
#20
Edward R Smith, Tim D Hewitson, Michael M X Cai, Parisa Aghagolzadeh, Matthias Bachtler, Andreas Pasch, Stephen G Holt
Calciprotein particles, nanoscale aggregates of insoluble mineral and binding proteins, have emerged as potential mediators of phosphate toxicity in patients with Chronic Kidney Disease. Although existing immunochemical methods for their detection have provided compelling data, these approaches are indirect, lack specificity and are subject to a number of other technical and theoretical shortcomings. Here we have developed a rapid homogeneous fluorescent probe-based flow cytometric method for the detection and quantitation of individual mineral-containing nanoparticles in human and animal serum...
July 18, 2017: Scientific Reports
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