Database : MEDLINE
Search on : Osteomalacia [Words]
References found : 6017 [refine]
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[PMID]: 29360619
[Au] Autor:Whyte MP; Coburn SP; Ryan LM; Ericson KL; Zhang F
[Ad] Address:Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO 63110, USA. Electronic address
[Ti] Title:Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology.
[So] Source:Bone;110:96-106, 2018 Jan 31.
[Is] ISSN:1873-2763
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Hypophosphatasia (HPP) is the inborn-error-of-metabolism due to loss-of-function mutation(s) of the ALPL (TNSALP) gene that encodes the tissue non-specific isoenzyme of alkaline phosphatase (TNSALP). TNSALP represents a family of cell-surface phosphohydrolases differing by post-translational modification that is expressed especially in the skeleton, liver, kidney, and developing teeth. Thus, the natural substrates of TNSALP accumulate extracellularly in HPP including inorganic pyrophosphate (PPi), a potent inhibitor of mineralization, and pyridoxal 5'-phosphate (PLP), the principal circulating form of vitamin B . The superabundance of extracellular PPi regularly causes tooth loss, and when sufficiently great can lead to rickets or osteomalacia. Sometimes diminished hydrolysis of PLP engenders vitamin B -dependent seizures in profoundly affected babies. Autosomal dominant and autosomal recessive inheritance from among >340 ALPL mutations identified to date, typically missense and located throughout the gene, largely explains the remarkably wide-ranging severity of HPP, greatest of all skeletal diseases. In 2015, our demographic, clinical, and DXA findings acquired over 25 years from 173 children and adolescents with HPP validated and expanded the clinical nosology for pediatric patients to include according to increasing severity "odonto" HPP, "mild childhood" HPP, "severe childhood" HPP, "infantile" HPP, and "perinatal" HPP. Herein, we assessed this expanded nosology using biochemical hallmarks of HPP. We evaluated exclusively data from the 165 preteenage HPP patients in this cohort to exclude potential effects from physiological changes in TNSALP levels across puberty. All patients had subnormal serum total and bone-specific ALP and elevated plasma PLP, and nearly all had excessive urinary PPi excretion. Only the PLP levels were unchanged across puberty. Mean levels of all four biomarkers correlated with HPP severity ranked according to the HPP nosology, but the data overlapped among all four patient groups. Hence, these four biochemical hallmarks represent both a sensitive and reliable tool for diagnosing children with HPP. Furthermore, the hallmarks validate our expanded clinical nosology for pediatric HPP that, with limitations, is an improved framework for conceptualizing and working with this disorder's remarkably broad-ranging severity.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  2 / 6017 MEDLINE  
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[PMID]: 29514106
[Au] Autor:Sent-Doux KN; Mackinnon C; Lee JC; Folpe AL; Habeeb O
[Ad] Address:Department of Plastic Surgery, Hutt Valley District Health Board, 622 High Street, Lower Hutt, Wellington, New Zealand 5010. Electronic address: kimberley.sentdoux@gmail.com.
[Ti] Title:Phosphaturic Mesenchymal Tumor Without Osteomalacia: Additional Confirmation of the "Non-Phosphaturic" Variant, with Emphasis on the Roles of FGF23 Chromogenic in situ Hybridization and FN1-FGFR1 Fluorescence in situ Hybridization.
[So] Source:Hum Pathol;, 2018 Mar 04.
[Is] ISSN:1532-8392
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Phosphaturic Mesenchymal Tumor (PMT) is a rare, histologically distinctive neoplasm, which classically presents with phosphaturia and tumor-induced osteomalacia (TIO) (i.e., oncogenic osteomalacia). Both the phosphaturia and TIO are due to paraneoplastic production of FGF23 (a phosphatonin) by the neoplastic cells, which are genetically characterized by rearrangements of FN1 (most often with FGFR1 - and less frequently with FGF1). However, rare cases of PMT present without phosphaturia and TIO (i.e., the "non-phosphaturic" variant) - and are therefore much more challenging to diagnose. Here, we report the first case of a genetically confirmed, non-phosphaturic PMT - in which the correct diagnosis was established through a combination of careful histological evaluation, FGF23 chromogenic in situ hybridization (CISH), and fluorescence in situ hybridization (FISH) testing for FN1-FGFR1.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:Publisher

  3 / 6017 MEDLINE  
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[PMID]: 29363823
[Au] Autor:Barbieri AM; Chiodini I; Ragni E; Colaianni G; Gadda F; Locatelli M; Lampertico P; Spada A; Eller-Vainicher C
[Ad] Address:Unit of Endocrinology and Metabolic Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
[Ti] Title:Suppressive effects of tenofovir disoproxil fumarate, an antiretroviral prodrug, on mineralization and type II and type III sodium-dependent phosphate transporters expression in primary human osteoblasts.
[So] Source:J Cell Biochem;, 2018 Jan 24.
[Is] ISSN:1097-4644
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Tenofovir disoproxil fumarate (TDF) is an antiretroviral drug commonly used for the management of Human Immunodeficiency Virus (HIV) in highly active antiretroviral therapy (HAART) and of chronic Hepatitis B Virus (HBV) infections. Long-term TDF-treated subjects present decrease of bone mineral density and rarely severe osteomalacia. Although these adverse effects have been attributed to the impaired proximal tubule function, a possible direct involvement of TDF on osteoblasts should be taken into account. The aim of this study was to evaluate whether sodium phosphate transporters NPT2A (sodium-dependent phosphate transport protein 2A), NPT2C (sodium-dependent phosphate transport protein 2C), PIT1 (sodium-dependent phosphate transporter 1), and PIT2 (sodium-dependent phosphate transporter 2) were expressed in primary human osteoblasts (HOBs), whether their expression was related to HOBs differentiation and whether TDF could affect mineralization and gene expression. PIT1 and PIT2 were expressed under proliferating conditions and increased after induction of mineralization, while NPT2A and NPT2C were almost undetectable. In HOBs TDF exposure induced a significant dose-dependent decrease in mineralization. Moreover, TDF caused a reduction of COL1A1 and of ATF4 expression in differentiated HOBs. In summary, HOBs do not express NPT2A and NPT2C and do express PIT1 and PIT2, suggesting a role of these two latter in human osteoblast mineralization. TDF impairs osteoblast mineralization, confirming a direct negative effect on bone. Therefore, in clinical practice, bone damage must be suspected and evaluated also in patients receiving TDF without kidney function alterations.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:Publisher
[do] DOI:10.1002/jcb.26696

  4 / 6017 MEDLINE  
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[PMID]: 29281120
[Au] Autor:Urbina T; Belkhir R; Rossi G; Carbonnel F; Pavy S; Collins M; Mariette X; Seror R
[Ad] Address:Assistance Publique-Hopitaux de Paris, Hôpitaux Universitaires Paris-Sud, Department of Rheumatology, Le Kremlin Bicêtre, France.
[Ti] Title:Iron Supplementation-Induced Phosphaturic Osteomalacia: FGF23 is the Culprit.
[So] Source:J Bone Miner Res;33(3):540-542, 2018 Mar.
[Is] ISSN:1523-4681
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:LETTER
[Em] Entry month:1712
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Data-Review
[do] DOI:10.1002/jbmr.3369

  5 / 6017 MEDLINE  
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[PMID]: 29504962
[Au] Autor:Wang L; Zhang S; Jing H; Chen L; Wang Z; Li F
[Ad] Address:From the Department of Nuclear Medicine, Peking Union Medical College Hospital, Beijing, China.
[Ti] Title:The Findings on Bone Scintigraphy in Patients With Suspected Tumor-Induced Osteomalacia Should Not Be Overlooked.
[So] Source:Clin Nucl Med;43(4):239-245, 2018 Apr.
[Is] ISSN:1536-0229
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Tumor-induced osteomalacia (TIO) is a chronic, devastating disease. The causative tumor is usually a small benign one that is very difficult to localize. Because the presenting symptoms include diffuse bone pain, a bone scintigraphy is commonly performed to determine the cause of the pain before TIO is suspected. In this retrospective investigation, we tried to assess whether bone scintigraphy acquired will be helpful in the eventual identification of the culprit tumor. METHODS: The images of bone scan and clinical charts of total 91 patients with confirmed TIO were retrospectively reviewed. The image findings were compared with the results of other imaging studies, surgical notes, histopathologic examinations and clinical follow-ups. RESULTS: In 76.9% (70 of 91) of the patients, the findings of bone scintigraphy did not correspond to the sites of the causative tumors, which were subsequently located. However, in 23.1% of the patients (21 of 91), the sites of the causative tumors corresponded to one of the abnormal technetium 99m-methyl diphosphonate activity on bone scintigraphy. More importantly, 6 tumors corresponded to the dominant activity on bone scintigraphy. CONCLUSIONS: Although findings of whole-body scintigraphy are nonspecific in patients with TIO, careful evaluation of bone scintigraphy results can be helpful in guiding further evaluation in some patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:In-Process
[do] DOI:10.1097/RLU.0000000000002012

  6 / 6017 MEDLINE  
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[PMID]: 29502359
[Au] Autor:Xiao L; Homer-Bouthiette C; Hurley MM
[Ad] Address:Department of Medicine, University of Connecticut School of Medicine, UCONN Health, Farmington, Connecticut, 06030-052.
[Ti] Title:FGF23 Neutralizing Antibody Partially Improves Bone Mineralization Defect of HMWFGF2 Isoforms Transgenic Female Mice.
[So] Source:J Bone Miner Res;, 2018 Mar 04.
[Is] ISSN:1523-4681
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Mice overexpressing high molecular weight FGF2 isoforms (HMWTg) in osteoblast lineage phenocopy human X-linked hypophosphatemic rickets (XLH) and Hyp murine model of XLH demonstrating increased FGF23/FGF receptor signaling and hypophosphatemic rickets/osteomalacia. Since HMWFGF2 was up-regulated in bones of Hyp mice and abnormal FGF23 signaling is important in XLH, HMWTg mice were used to examine the effect of the FGF23 neutralizing antibody (FGF23Ab). Eight-week-old female Vector control mice and HMWTg mice were treated with FGF23Ab or control IgG. Single injection of FGF23Ab rescued abnormal hypophosphatemia in HMWTg. The decreased Npt2a was rescued by FGF23Ab treatment. Inappropriately low serum 1,25(OH) D in HMWTg mice was normalized by FGF23Ab treatment which is accompanied by increased anabolic vitamin D hydroxylase Cyp27b1, and decreased catabolic vitamin D hydroxylase Cyp24 mRNA in kidney. Long-term treatment with FGF23Ab normalized femur length and significantly increased vertebrae BMD and BMC, and femur BMC in HMWTg mice compared to IgG treated HMWTg mice. Micro-CT revealed increased cortical porosity and decreased cortical apparent density in HMWTg-IgG group compared with Vector-IgG group, however, FGF23Ab treatment rescued defective cortical mineralization, decreased porosity and increased apparent density in HMWTg mice. Bone histomorphometry analysis showed FGF23Ab treatment decreased osteoid volume, increased intra label thickness, mineralization apposition rate and bone formation rate in HMWTg mice. FGF23Ab improved disorganized double labeling in femur from HMWTg mice. Quantitative real time PCR analysis of tibiae shaft showed FGF23 Ab treatment normalized the Ocn mRNA expression in HMWTg mice, but further increased SIBLING protein and pyrophosphate related genes expression that are important in matrix mineralization, suggesting HMWFGF2 modulates these genes independent of FGF23. We conclude that FGF23Ab partially rescued hypophosphatemic osteomalacia in HMWTg. However, long-term treatment with FGF23Ab further increased SIBLING protein related genes and pyrophosphate related genes in bone that could contribute to incomplete rescue of the mineralization defect. This article is protected by copyright. All rights reserved.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180304
[Lr] Last revision date:180304
[St] Status:Publisher
[do] DOI:10.1002/jbmr.3417

  7 / 6017 MEDLINE  
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[PMID]: 29489033
[Au] Autor:Chiang CY; Zebaze R; Wang XF; Ghasem-Zadeh A; Zajac JD; Seeman E
[Ad] Address:Department of Endocrinology, Austin Health, Heidelberg, Australia.
[Ti] Title:Cortical Matrix Mineral Density Measured Non-invasively in Pre- and Postmenopausal Women and a Woman with Vitamin D Dependent Rickets.
[So] Source:J Bone Miner Res;, 2018 Feb 28.
[Is] ISSN:1523-4681
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Reduced bone mineral density (BMD) may be due to reduced mineralized bone matrix volume, incomplete secondary mineralization or reduced primary mineralization. As bone biopsy is invasive, we hypothesized that non-invasive image acquisition at high resolution can accurately quantify matrix mineral density (MMD). Quantification of MMD was confined to voxels attenuation photons above 80% of that produced by fully mineralized bone matrix because attenuation at this level is due to variation in mineralization not porosity. To assess accuracy, 9 cadaveric distal radii were imaged at a voxel size of 82 microns using high resolution peripheral quantitative computed tomography (HR-pQCT, XtremeCT, Scanco Medical AG, Switzerland) and compared with VivaCT 40 (µCT) at 19 microns voxel size. Associations between MMD and porosity were studied in 94 heathy vitamin D replete pre-menopausal, 77 post-menopausal women, and in a 27 year-old woman with vitamin-D Dependent Rickets (VDDR). Microstructure and MMD were quantified using StrAx (StraxCorp, Melbourne, Australia). MMD measured by HR-pQCT and µCT correlated (R = 0.87; p <0.0001). The precision error for MMD was 2.43%. Cortical porosity and MMD were associated with age (r = 0.5 and - 0.4 respectively) and correlated inversely in pre- and post-menopausal women (both r = 0.9, all p < 0.001). Porosity was higher, and MMD was lower, in post- than in pre-menopausal women (porosity 40.3% ± 7.0 versus 34.7% ± 3.5 respectively, MMD 65.4% ± 1.8 versus 66.6% ± 1.4 respectively, both p < 0.001). In the woman with VDDR, MMD was 5.6 SD lower, and porosity was 5.6 SD higher, than the respective trait means in premenopausal women. BMD was reduced (Z scores femoral neck - 4.3 SD, lumbar spine - 3.8 SD). Low radiation HR-pQCT may facilitate non-invasive quantification of bone's MMD and microstructure in health, disease and during treatment. This article is protected by copyright. All rights reserved.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[St] Status:Publisher
[do] DOI:10.1002/jbmr.3415

  8 / 6017 MEDLINE  
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[PMID]: 29485420
[Au] Autor:De Muynck B; Leys M; Cuypers J; Vanderschueren D; Delcroix M; Belge C
[Ad] Address:Department of Respiratory Diseases, KU Leuven - University of Leuven and University Hospitals Leuven, Leuven, Belgium.
[Ti] Title:Hypocalcemia after Denosumab in a Pulmonary Hypertension Patient Receiving Epoprostenol.
[So] Source:Respiration;95(2):139-142, 2018.
[Is] ISSN:1423-0356
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:We report the case of a 50-year-old woman with anorexigen-induced pulmonary arterial hypertension treated with epoprostenol, who presented with Trousseau's sign, leading to the diagnosis of severe hypocalcemia for which substitution was started (initially orally, followed by intravenous substitution). After further analysis, we assume that epoprostenol-induced diarrhea caused malabsorption (as other reasons were excluded), leading to nutritional osteomalacia with secondary hyperparathyroidism. We discovered that even more severe hypocalcemia was induced by the treatment with the anti-osteoporotic drug denosumab, which was started after the diagnosis of osteoporosis on bone densitometry. In our opinion, clinicians have to be aware that in patients with malabsorption, antiresorptive therapy can induce dangerous and even life-threatening hypocalcemia, even in patients with normal renal function.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Data-Review
[do] DOI:10.1159/000481713

  9 / 6017 MEDLINE  
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[PMID]: 29480869
[Ti] Title:A case report of phosphaturic mesenchymal tumor-induced osteomalacia: Erratum.
[So] Source:Medicine (Baltimore);97(2):e9624, 2018 Jan.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180226
[Lr] Last revision date:180226
[St] Status:In-Data-Review
[do] DOI:10.1097/MD.0000000000009624

  10 / 6017 MEDLINE  
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[PMID]: 29460820
[Au] Autor:Lerner PP; Sharony L; Miodownik C
[Ad] Address:Mental Health Center Geha, Petakh Tikva, Israel.
[Ti] Title:Association between mental disorders, cognitive disturbances and vitamin D serum level: Current state.
[So] Source:Clin Nutr ESPEN;23:89-102, 2018 Feb.
[Is] ISSN:2405-4577
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND & AIMS: Vitamin D deficiency has been identified as a global problem. Approximately 14% of the world population has inadequate vitamin D levels. This vitamin has been usually associated with bone disorders such as rickets, osteomalacia, and osteoporosis. However, these disorders present only a small part of all the disturbances which can be induced by its deficiency. Low serum vitamin D is associated with development of cardiovascular diseases, hypertension, neurodegenerative diseases, diabetes mellitus, metabolic syndrome and even cancer. This vitamin may be an important factor in the development of psychiatric illnesses, therefore clinicians should not leave this serious issue unresolved. The aim of this review is to describe the current data concerning the association between vitamin D serum levels, cognition and mental disorders. METHODS: We conducted a systematic bibliographical research, of PubMed, MedLine literature and Cochrane database without language restriction to identify all publications concerning this issue from 1995 to the first quarter of 2017. RESULTS: We found 48,937 articles concerning vitamin D, published during the last 22 years and 3 months (1995-2017). We selected only those publications focused on the association between vitamin D serum deficiency and mental disturbances (depression, schizophrenia, cognitive disturbances, attention deficit disorder, and autism). One hundred and sixty-seven papers were found suitable to our selection criteria. Careful evaluation of the relevant literature demonstrates that addition of vitamin D to conventional antidepressive agents can improve antidepressive effect in contrast to placebo. Regarding other mental conditions there are no clear-cut conclusions. CONCLUSIONS: An association between low vitamin D serum levels and different mental disorders was found. Yet, nonetheless there is no clear consensus that addition of vitamin D improves or is related to a beneficial effect on mental health. More randomized clinical control trials should be performed in order to reach evidence based conclusions.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[St] Status:In-Data-Review


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