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mineral and bone disorder

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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/29665846/correlation-of-serum-levels-of-fibroblast-growth-factor-23-and-klotho-protein-levels-with-bone-mineral-density-in-maintenance-hemodialysis-patients
#2
Shubei Zheng, Yan Chen, Yu Zheng, Zhihong Zhou, Zhanyuan Li
OBJECTIVE: The correlation of serum fibroblast growth factor 23 (FGF-23) and Klotho protein levels with bone mineral density (BMD) in maintenance hemodialysis (MHD) patients was analyzed. METHODS: Between January 2015 and November 2015, 125 MHD patients in our hospital were enrolled. Dual-energy X-ray absorptiometry was used to examine the BMD in the femoral neck and lumbar spine of MHD patients. The patients were divided into three groups: a normal bone mass group, an osteopenia group, and an osteoporosis group...
April 17, 2018: European Journal of Medical Research
https://www.readbyqxmd.com/read/29664498/-hypophosphatemia-in-preterm-infants-a-bimodal-disorder
#3
María Paz Cubillos Celis, Patricia Mena Nannig
New nutritional approaches to treat extreme premature babies have demonstrated relevant eviden ce of metabolic disturbances with early hypophosphatemia, especially in patients with intrauterine growth restriction (IUGR). They have shown late hypophosphatemia, as well, which is characteristic in the metabolic bone disease. A sytematic search of literature describing metabolic disturbances of phosphorus in preterm newborns is presented, related to the use of early parenteral nutrition and also in the context of metabolic bone disease...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29663307/genome-wide-association-study-of-lncrna-polymorphisms-with-bone-mineral-density
#4
Qin Zeng, Ke-Hao Wu, Kun Liu, Yuan Hu, Xiang-Ding Chen, Lei Zhang, Hui Shen, Qin Tian, Lan-Juan Zhao, Hong-Wen Deng, Li-Jun Tan
Recent studies suggested that long noncoding RNAs (lncRNAs) were widely transcribed in the genome, but their potential roles in the genetic complexity of human disorders required further exploration. The purpose of the present study was to explore genetic polymorphisms of lncRNAs associated with bone mineral density (BMD) and its potential value. Based on the lncRNASNP database, 55,906 lncSNPs were selected to conduct a genome-wide association study meta-analysis among 11,140 individuals of seven independent studies for BMDs at femoral neck (FN), lumbar spine, and total hip (HIP)...
April 16, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29655516/plga-%C3%AE-tcp-composite-scaffold-incorporating-salvianolic-acid-b-promotes-bone-fusion-by-angiogenesis-and-osteogenesis-in-a-rat-spinal-fusion-model
#5
Sien Lin, Liao Cui, Guanghua Chen, Jianping Huang, Yanhua Yang, Kaijie Zou, Yuxiao Lai, Xinluan Wang, Liyi Zou, Tie Wu, Jack Chun Yiu Cheng, Gang Li, Bo Wei, Wayne Yuk Wai Lee
Spinal disorders often require surgical treatment called spinal fusion to restore a stabilized spine where bone grafts are implanted for the fusion of adjacent vertebras. In this study, we developed a bioactive composite scaffold incorporated with salvianolic acid B (SB), an active component extracted from Danshen. This study aimed to evaluate the effects of SB-incorporated porous scaffold on spinal fusion models. The composite scaffolds composed of poly (lactic-co-glycolic acid) and tricalcium phosphate (PLGA/β-TCP) were fabricated with low-temperature rapid prototyping technique, which incorporated SB at low (SB-L), middle (SB-M), high (SB-H) doses, and pure PLGA/β-TCP as blank control (Con)...
April 4, 2018: Biomaterials
https://www.readbyqxmd.com/read/29653294/sclerostin-vaccination-mitigates-estrogen-deficiency-induction-of-bone-mass-loss-and-microstructure-deterioration
#6
Feng-Sheng Wang, Re-Wen Wu, Wei-Shiung Lain, Tsai-Chen Tsai, Yu-Shan Chen, Yi-Chih Sun, Huei-Jing Ke, Jui-Chen Li, Jau-Lang Hwang, Jih-Yang Ko
Sclerostin (SOST) is a Wnt signaling inhibitor detrimental to osteogenic differentiation and bone mineral acquisition. While control of SOST action delays the pathogenesis of skeletal disorders, the effects of SOST vaccination on the estrogen deficiency-induced bone deterioration remain elusive. In this study, we generated a SOST-Fc fusion protein which was composed of a SOST peptide Pro-Asn-Ala-Ile-Gly along with an IgG Fc fragment. SOST-Fc vaccination increased serum anti-SOST antibody levels and reduced serum SOST concentrations in mice...
April 10, 2018: Bone
https://www.readbyqxmd.com/read/29651097/unraveling-the-compromised-biomechanical-performance-of-type-2-diabetes-and-roux-en-y-gastric-bypass-bone-by-linking-mechanical-structural-and-physico-chemical-properties
#7
Carlos Marin, Georgios Papantonakis, Kathleen Sels, G Harry van Lenthe, Guillaume Falgayrac, Roman Vangoitsenhoven, Bart Van der Schueren, Guillaume Penel, Frank Luyten, Katleen Vandamme, Greet Kerckhofs
Type 2 diabetes mellitus (T2DM) is a metabolic disorder associated with obesity and hyperglycemia. Roux-en-Y gastric bypass (RYGB) surgery is a common treatment for severely obese patients and T2DM. Both RYGB and T2DM are linked to increased skeletal fragility, though the exact mechanisms are poorly understood. Our aim was to characterize the structural, mechanical and compositional properties of bones from diet-induced obese and RYGB-treated obese (bypass) mice to elucidate which the exact factors are contributing to the increased skeletal fragility...
April 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29623244/the-relationship-between-bone-mineral-density-and-cardiovascular-function-in-duchenne-muscular-dystrophy-a-retrospective-cohort-study
#8
Tara Kervin, Mathula Thangarajh
INTRODUCTION: Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder that causes progressive skeletal and cardiac muscle weakness in boys. Cardiac dysfunction is a frequent cause of death in DMD. Glucocorticoids are the standard of care in DMD. The long-term use of oral glucocorticoids in DMD is complicated by poor bone health. Epidemiological studies suggest a biological link between the loss of bone mineral density (BMD) and cardiovascular disease, including coronary artery and cerebrovascular diseases...
March 22, 2018: PLoS Currents
https://www.readbyqxmd.com/read/29619305/graphene-based-microrna-transfection-blocks-preosteoclast-fusion-to-increase-bone-formation-and-vascularization
#9
Ce Dou, Ning Ding, Fei Luo, Tianyong Hou, Zhen Cao, Yun Bai, Chuan Liu, Jianzhong Xu, Shiwu Dong
The objective of this study is to design a graphene-based miRNA transfection drug delivery system for antiresorptive therapy. An efficient nonviral gene delivery system is developed using polyethylenimine (PEI) functionalized graphene oxide (GO) complex loaded with miR-7b overexpression plasmid. GO-PEI complex exhibits excellent transfection efficiency within the acceptable range of cytotoxicity. The overexpression of miR-7b after GO-PEI-miR-7b transfection significantly abrogates osteoclast (OC) fusion and bone resorption activity by hampering the expression of an essential fusogenic molecule dendritic cell-specific transmembrane protein...
February 2018: Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
https://www.readbyqxmd.com/read/29600260/current-concepts-in-scaffolding-for-bone-tissue-engineering
#10
REVIEW
Toktam Ghassemi, Azadeh Shahroodi, Mohammad H Ebrahimzadeh, Alireza Mousavian, Jebraeel Movaffagh, Ali Moradi
Bone disorders are of significant worry due to their increased prevalence in the median age. Scaffold-based bone tissue engineering holds great promise for the future of osseous defects therapies. Porous composite materials and functional coatings for metallic implants have been introduced in next generation of orthopedic medicine for tissue engineering. While osteoconductive materials such as hydroxyapatite and tricalcium phosphate ceramics as well as some biodegradable polymers are suggested, much interest has recently focused on the use of osteoinductive materials like demineralized bone matrix or bone derivatives...
March 2018: Archives of Bone and Joint Surgery
https://www.readbyqxmd.com/read/29594644/non-osteogenic-muscle-hypertrophy-in-children-with-mcardle-disease
#11
I Rodríguez-Gómez, A Santalla, J Díez-Bermejo, D Munguía-Izquierdo, L M Alegre, G Nogales-Gadea, J Arenas, M A Martín, A Lucía, I Ara
INTRODUCTION: McArdle disease is an inborn disorder of muscle glycogen metabolism that produces exercise intolerance, and has been recently associated with low values ​​of lean mass (LM) and bone mineral content (BMC) and density (BMD) in affected adults. Here we aimed to study whether this bone health problem begins in childhood. METHODS: Forty children and adolescents were evaluated: 10 McArdle disease and 30 control children (mean age of both groups, 13 ± 2y)...
March 28, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29594386/mutational-analysis-uncovers-monogenic-bone-disorders-in-women-with-pregnancy-associated-osteoporosis-three-novel-mutations-in-lrp5-col1a1-and-col1a2
#12
S Butscheidt, A Delsmann, T Rolvien, F Barvencik, M Al-Bughaili, S Mundlos, T Schinke, M Amling, U Kornak, R Oheim
Pregnancy was found to be a skeletal risk factor promoting the initial onset of previously unrecognized monogenic bone disorders, thus explaining a proportion of cases with pregnancy-associated osteoporosis. Therapeutic measures should focus in particular on the normalization of the disturbed calcium homeostasis in order to enable the partial skeletal recovery. INTRODUCTION: Pregnancy-associated osteoporosis (PAO) is a rare skeletal condition, which is characterized by a reduction in bone mineral density (BMD) in the course of pregnancy and lactation...
March 29, 2018: Osteoporosis International
https://www.readbyqxmd.com/read/29593281/long-term-effects-of-low-calcium-dialysates-on-the-serum-calcium-levels-during-maintenance-hemodialysis-treatments-a-systematic-review-and-meta-analysis
#13
Masahiro Yoshikawa, Osamu Takase, Taro Tsujimura, Etsuko Sano, Matsuhiko Hayashi, Tsuyoshi Takato, Keiichi Hishikawa
Hypercalcemia and hyperparathyroidism in patients receiving maintenance hemodialysis (MHD) can cause the progression of cardiovascular diseases (CVD) and mineral bone disorders (MBD). The KDIGO recommends the dialysates with a calcium (Ca) concentration of 1.25-1.5 mmol/L for MHD treatments, but the optimal concentration remains controversial. Here, we conducted a systematic review and a meta-analysis of seven randomized controlled trials examining a total of 622 patients to investigate the optimal concentration for MHD for 6 months or longer...
March 28, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29582958/-ckd-mbd-in-peritoneal-dialysis
#14
Anna Rachele Rocca, Tania Gnerre Musto, Sandro Mazzaferro
CKD-MBD is a systemic disorder of the mineral and bone metabolism as a result of CKD. The clinical relevance of this syndrome has led to the identification of the biochemical targets to be achieved in order to improve the outcome of the patient. However, in hemodialysis (HD) and peritoneal dialysis (DP) patients, these targets are not reached. Hyperphosphatemia is a predictor of cardiovascular and all-cause mortality. In DP the removal of phosphorus (P) occurs by diffusion and convection, with a contribution of ultrafiltration of about 11%...
March 2018: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29578928/negative-correlation-of-high-density-of-lipoprotein-cholesterol-and-bone-mineral-density-in-postmenopausal-iranian-women-with-vitamin-d-deficiency
#15
Zhila Maghbooli, Leila Khorrami-Nezhad, Elham Adabi, Majid Ramezani, Effat Asadollahpour, Farideh Razi, Mohammadtaher Rezanezhad
OBJECTIVE: The aim of the study was to investigate the association between high-density lipoprotein (HDL) and bone status taking into account serum vitamin D levels in postmenopausal Iranian women. METHODS: During January 2015 and February 2016, a total of 488 postmenopausal Iranian women participated in this cross-sectional study, all of whom were not taking osteoporosis medication and were not suffering from any chronic disorder. Dual X-ray absorptiometry was used to assess bone mineral density (BMD) of the total hip, femoral neck, and lumbar vertebrae (L2-L4)...
March 19, 2018: Menopause: the Journal of the North American Menopause Society
https://www.readbyqxmd.com/read/29578126/efficacy-and-safety-of-different-bisphosphonates-for-bone-loss-prevention-in-kidney-transplant-recipients-a-network-meta-analysis-of-randomized-controlled-trials
#16
Yan Yang, Shi Qiu, Xi Tang, Xin-Rui Li, Ling-Hui Deng, Qiang Wei, Ping Fu
Background: Mineral and bone disorder is one of the severe complications in kidney transplant recipients (KTRs). Previous studies showed that bisphosphonates had favorable effects on bone mineral density (BMD). We sought to compare different bisphosphonate regimens and rank their strategies. Methods: We searched PubMed, Embase, and the Cochrane Central Register of Controlled Trials (CENTRAL) up to April 01, 2017, for randomized controlled trials (RCTs) comparing bisphosphonate treatments in adult KTRs...
April 5, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29573598/clinical-value-of-11c-methionine-positron-emission-tomography-in-persistent-primary-hyperparathyroidism-a-case-report-with-a-mediastinal-parathyroid-adenoma
#17
M L Møller, L Rejnmark, A K Arveschoug, A Højsgaard, L Rolighed
INTRODUCTION: Primary hyperparathyroidism (PHPT) is a common endocrine disorder caused by pathologic growth of one or more of the parathyroid glands. Parathyroidectomies (PTX) in patients with PHPT are procedures with low morbidity, few complications, and a high cure rate. However, the parathyroid glands may be found at various anatomical locations and occasionally they are intrathoracic. CASE PRESENTATION: We present a 57-year-old patient with PHPT. Before the first and second operation, the preoperative imaging indicated pathologic parathyroid tissue in the neck...
March 15, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29568934/tanshinone%C3%A2-iia-attenuates-the-deleterious-effects-of-oxidative-stress-in-osteoporosis-through-the-nf%C3%A2-%C3%AE%C2%BAb-signaling-pathway
#18
Shaowen Zhu, Wanfu Wei, Zhiwei Liu, Yang Yang, Haobo Jia
Osteoclasts are responsible for bone resorption caused by bone microstructural damage and bone-related disorders. Evidence shows that tanshinone IIA (Tan‑IIA), a traditional Chinese medicine, is used clinically as a drug for the treatment of cardiovascular and cerebrovascular diseases. However, the efficacy and mechanism underlying the effect of Tan‑IIA on the viability of osteoclasts remain to be fully elucidated. The present study investigated the therapeutic effects of Tan‑IIA on osteoblast differentiation and oxidative stress in vitro and in vivo...
March 14, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29565301/efficacy-of-denosumab-for-osteoporosis-in-two-patients-with-adult-onset-still-s-disease-denosumab-efficacy-in-osteoporotic-still-s-disease-patients
#19
Daiki Kumaki, Yukio Nakamura, Takako Suzuki, Hiroyuki Kato
Adult-onset Still's disease (AOSD) is an autoimmune inflammatory disorder. Glucocorticoids are often used for AOSD, which may induce complicating glucocorticoid-induced osteoporosis (GIO). An anti-resorption drug, denosumab, has recently been approved for osteoporosis treatment in Japan. However, the drug's efficacy for GIO in AOSD is largely unknown. This retrospective, consecutive case series investigated two patients with GIO in AOSD to examine the effects of denosumab on bone metabolism. Bone turnover markers, and bone mineral density (BMD) of the lumbar 1-4 spine (L-BMD) and bilateral total hips (H-BMD) were followed for six months in a male patient and for twelve months in a female patient...
March 22, 2018: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/29560558/in-vitro-evaluation-of-the-potential-therapeutic-role-of-dendropanax-morbifera-extract-in-ameliorating-osteoporosis-and-resultant-bone-impairment-using-mc3t3-e1-cells
#20
Dong-Uk Yang, Muhammad Hanif Siddiqi, Sungeun Ahn, Sera Kang, Hae-Yong Noh, Deok-Chun Yang
Osteoporosis is a widespread musculoskeletal deformity that affects thousands of older people every year, leading to bone abnormalities and ultimately increasing the risk of bone fractures in both genders. It is considered a lethal disease causing death in thousands of people at the late stage of life. Dendropanax morbifera Leveille is a subtropical broad-leaved prevalent species in Korea. Extracts of the leaves, stems, roots, and seeds of D. morbifera have been used in traditional medicine for the treatment of numerous diseases such as diabetes, atherogenesis, skin disorders, and headaches...
March 20, 2018: In Vitro Cellular & Developmental Biology. Animal
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