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  1 / 7523 MEDLINE  
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[PMID]:28938491
[Au] Autor:Xiao L; Du E; Homer-Bouthiette C; Hurley MM
[Ad] Endereço:Department of Medicine, University of Connecticut School of Medicine, UConn Health, Farmington, Connecticut, 06030-052.
[Ti] Título:Inhibition of FGFR Signaling Partially Rescues Hypophosphatemic Rickets in HMWFGF2 Tg Male Mice.
[So] Source:Endocrinology;158(10):3629-3646, 2017 Oct 01.
[Is] ISSN:1945-7170
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Transgenic mice harboring high molecular weight fibroblast growth factor (FGF)2 isoforms (HMWTg) in osteoblast lineage cells phenocopy human X-linked hypophosphatemic rickets (XLH) and Hyp murine model of XLH demonstrating increased FGF23/FGF receptor signaling and hypophosphatemic rickets. Because HMWFGF2 was upregulated in bones of Hyp mice and abnormal FGF receptor (FGFR) signaling is important in XLH, HMWTg mice were used to examine the effect of the FGFR inhibitor NVP-BGJ398, now in clinical trials for cancer therapy, on hypophosphatemic rickets. Short-term treatment with NVP-BGJ398 rescued abnormal FGFR signaling and hypophosphatemia in HMWTg. Long-term treatment with NVP-BGJ398 normalized tail, tibia, and femur length. Four weeks NVP-BGJ398 treatment significantly increased total body bone mineral density (BMD) and bone mineral content (BMC) in HMWTg mice; however, at 8 weeks, total body BMD and BMC was indistinguishable among groups. Micro-computed tomography revealed decreased vertebral bone volume, trabecular number, and increased trabecular spacing, whereas femur trabecular tissue density was increased; however, NVP-BGJ398 rescued defective cortical bone mineralization, increased thickness, reduced porosity, and increased endosteal perimeter and cortical tissue density in HMWTg. NVP-BGJ398 improved femur cancellous bone, cortical bone structure, growth plate, and double labeling in cortical bone and also increased femur trabeculae double labeled surface, mineral apposition rate, bone formation rate, and osteoclast number and surface in HMWTg. The decreased NPT2a protein that is important for renal phosphate excretion was rescued by NVP-BGJ398 treatment. We conclude that NVP-BGJ398 partially rescued hypophosphatemic rickets in HMWTg. However, long-term treatment with NVP-BGJ398 further increased serum FGF23 that could exacerbate the mineralization defect.
[Mh] Termos MeSH primário: Densidade Óssea/efeitos dos fármacos
Osso e Ossos/efeitos dos fármacos
Raquitismo Hipofosfatêmico Familiar/genética
Fator 2 de Crescimento de Fibroblastos/genética
Osteoblastos/metabolismo
Compostos de Fenilureia/farmacologia
Pirimidinas/farmacologia
Receptores de Fatores de Crescimento de Fibroblastos/antagonistas & inibidores
[Mh] Termos MeSH secundário: Absorciometria de Fóton
Animais
Western Blotting
Osso e Ossos/diagnóstico por imagem
Osso e Ossos/patologia
Osso Esponjoso/diagnóstico por imagem
Osso Esponjoso/efeitos dos fármacos
Osso Esponjoso/patologia
Raquitismo Hipofosfatêmico Familiar/metabolismo
Raquitismo Hipofosfatêmico Familiar/patologia
Fêmur/diagnóstico por imagem
Fêmur/efeitos dos fármacos
Fêmur/patologia
Fatores de Crescimento de Fibroblastos/efeitos dos fármacos
Fatores de Crescimento de Fibroblastos/metabolismo
Seres Humanos
Masculino
Camundongos
Camundongos Transgênicos
Tamanho do Órgão
Isoformas de Proteínas/genética
Reação em Cadeia da Polimerase em Tempo Real
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Transdução de Sinais/efeitos dos fármacos
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa/efeitos dos fármacos
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa/metabolismo
Coluna Vertebral/diagnóstico por imagem
Coluna Vertebral/efeitos dos fármacos
Coluna Vertebral/patologia
Microtomografia por Raio-X
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (3-(2,6-dichloro-3,5-dimethoxyphenyl)-1-(6-(4-(4-ethylpiperazin-1-yl)-phenylamino)pyrimidin-4-yl)-1-methylurea); 0 (Phenylurea Compounds); 0 (Protein Isoforms); 0 (Pyrimidines); 0 (Receptors, Fibroblast Growth Factor); 0 (Slc34a1 protein, mouse); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIa); 0 (fibroblast growth factor 23); 103107-01-3 (Fibroblast Growth Factor 2); 62031-54-3 (Fibroblast Growth Factors)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171115
[Lr] Data última revisão:
171115
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170923
[St] Status:MEDLINE
[do] DOI:10.1210/en.2016-1617


  2 / 7523 MEDLINE  
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[PMID]:28719612
[Au] Autor:Da Silva Martins J; Castro JH; Sainz Rueda NA; Dos Reis LM; Jorgetti V; Affonso Moysés RM; Caramori JT
[Ad] Endereço:Nephrology, Department of Internal Medicine, Faculdade de Medicina Botucatu Univ. Estadual Paulista-UNESP. Botucatu, Brazil.
[Ti] Título:Renal osteodystrophy in the obesity era: Is metabolic syndrome relevant?
[So] Source:PLoS One;12(7):e0180387, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Observational studies have shown a beneficial effect of obesity on bone health; however, most of those studies were not based on bone biopsies. Metabolic syndrome (MetS) could have an effect on bone remodeling. However, there are no data on the effects of MetS in the presence of renal osteodystrophy. OBJECTIVE: The aim of this study was to investigate associations between MetS and renal osteodystrophy using the bone histomorphometric turnover-mineralization-volume (TMV) classification. DESIGN, SETTING, PARTICIPANTS & MEASUREMENTS: This observational cross-sectional study included 55 hemodialysis patients (28 women/27 men) who were evaluated for MetS and bone histomorphometry. Biochemical parameters included calcium, phosphorus, alkaline phosphatase, intact parathyroid hormone (iPTH), 25-hydroxyvitamin D, free serum leptin, fibroblast growth factor 23 (FGF23), intact osteocalcin, sclerostin (Scl), glucose, insulin, and thyroid hormones. Robust models of multivariate linear regressions were used for the statistical analyses. RESULTS: Females had higher iPTH levels (1,143 vs. 358, p = 0.02). Patients with normal bone volume (BV/TV) had a higher prevalence of MetS (73.6% vs. 41.7%, p = 0.02) and higher serum phosphorus, C-terminal FGF23 and insulin levels. The multivariate regression analysis showed that low-density lipoprotein cholesterol (LDL) was positively correlated with bone formation rate (BFR/BS) and negatively associated with mineralization lag time. Bone volume was negatively associated with age but positively associated with MetS. Body mass index (BMI) was not correlated with any of the bone histomorphometric parameters. CONCLUSION: Our results suggest that MetS is not a risk factor for low bone volume in hemodialysis patients. Furthermore, BMI alone was not related to bone volume in this population.
[Mh] Termos MeSH primário: Distúrbio Mineral e Ósseo na Doença Renal Crônica/complicações
Síndrome Metabólica/complicações
Obesidade/complicações
[Mh] Termos MeSH secundário: Adulto
Idoso
Densidade Óssea
Proteínas Morfogenéticas Ósseas/sangue
Distúrbio Mineral e Ósseo na Doença Renal Crônica/sangue
Distúrbio Mineral e Ósseo na Doença Renal Crônica/patologia
Distúrbio Mineral e Ósseo na Doença Renal Crônica/fisiopatologia
Estudos Transversais
Feminino
Fatores de Crescimento de Fibroblastos/sangue
Marcadores Genéticos
Seres Humanos
Resistência à Insulina
Leptina/sangue
Masculino
Meia-Idade
Osteocalcina/sangue
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Bone Morphogenetic Proteins); 0 (Genetic Markers); 0 (Leptin); 0 (SOST protein, human); 0 (fibroblast growth factor 23); 104982-03-8 (Osteocalcin); 62031-54-3 (Fibroblast Growth Factors)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170719
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0180387


  3 / 7523 MEDLINE  
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[PMID]:28704404
[Au] Autor:Yaguchi A; Tatemichi S; Takeda H; Kobayashi M
[Ad] Endereço:Pharmacology Research Laboratory, R&D., Kissei Pharmaceutical Co., Ltd., Azumino-City, Nagano-Pref., Japan.
[Ti] Título:PA21, a novel phosphate binder, improves renal osteodystrophy in rats with chronic renal failure.
[So] Source:PLoS One;12(7):e0180430, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The effects of PA21, a novel iron-based and non-calcium-based phosphate binder, on hyperphosphatemia and its accompanying bone abnormality in chronic kidney disease-mineral and bone disorder (CKD-MBD) were evaluated. Rats with adenine-induced chronic renal failure (CRF) were prepared by feeding them an adenine-containing diet for four weeks. They were also freely fed a diet that contained PA21 (0.5, 1.5, and 5%), sevelamer hydrochloride (0.6 and 2%) or lanthanum carbonate hydrate (0.6 and 2%) for four weeks. Blood biochemical parameters were measured and bone histomorphometry was performed for femurs, which were isolated after drug treatment. Serum phosphorus and parathyroid hormone (PTH) levels were higher in the CRF rats. Administration of phosphate binders for four weeks decreased serum phosphorus and PTH levels in a dose-dependent manner and there were significant decreases in the AUC0-28 day of these parameters in 5% PA21, 2% sevelamer hydrochloride, and 2% lanthanum carbonate hydrate groups compared with that in the CRF control group. Moreover, osteoid volume improved significantly in 5% of the PA21 group, and fibrosis volume and cortical porosity were ameliorated in 5% PA21, 2% sevelamer hydrochloride, and 2% lanthanum carbonate hydrate groups. These results suggest that PA21 is effective against hyperphosphatemia, secondary hyperparathyroidism, and bone abnormalities in CKD-MBD as sevelamer hydrochloride and lanthanum carbonate hydrate are, and that PA21 is a new potential alternative to phosphate binders.
[Mh] Termos MeSH primário: Distúrbio Mineral e Ósseo na Doença Renal Crônica/dietoterapia
Compostos Férricos/administração & dosagem
Falência Renal Crônica/induzido quimicamente
Lantânio/administração & dosagem
Sevelamer/administração & dosagem
[Mh] Termos MeSH secundário: Adenina/efeitos adversos
Animais
Distúrbio Mineral e Ósseo na Doença Renal Crônica/metabolismo
Modelos Animais de Doenças
Relação Dose-Resposta a Droga
Compostos Férricos/farmacologia
Falência Renal Crônica/complicações
Falência Renal Crônica/metabolismo
Lantânio/farmacologia
Masculino
Hormônio Paratireóideo/sangue
Fósforo/sangue
Ratos
Sevelamer/farmacologia
Resultado do Tratamento
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Ferric Compounds); 0 (PA21 compound); 0 (Parathyroid Hormone); 27YLU75U4W (Phosphorus); 490D9F069T (lanthanum carbonate); 6I3K30563S (Lanthanum); 9YCX42I8IU (Sevelamer); JAC85A2161 (Adenine)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170921
[Lr] Data última revisão:
170921
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170714
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0180430


  4 / 7523 MEDLINE  
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[PMID]:28682036
[Au] Autor:Bellasi A; Mangano M; Galassi A; Cozzolino M
[Ad] Endereço:U.O.C. di Nefrologia, Dialisi, Ospedale Sant'Anna-Como, ASST-Lariana, Como, Italy.
[Ti] Título:[CKD-MBD, cardiovascular involvement and prognosis].
[So] Source:G Ital Nefrol;34(Suppl 69):150-161, 2017 Mar.
[Is] ISSN:1724-5990
[Cp] País de publicação:Italy
[La] Idioma:ita
[Ab] Resumo:Chronic low-grade inflammation is emerging as the pathophysiological mechanism underlying of the several chronic degenerative diseases. Atherosclerosis, inflammation and oxidative stress are some of the issues that arise from the general context of chronic inflammation. In this manuscript we analyzed the role of the immune system, metabolism and inflammation's molecular mediators in order to show an overview about only apparently different problems. Finally, we proposed some possible solutions to improve the survival and quality of life of patient with chronic kidney disease.
[Mh] Termos MeSH primário: Doenças Cardiovasculares/etiologia
Distúrbio Mineral e Ósseo na Doença Renal Crônica/complicações
[Mh] Termos MeSH secundário: Distúrbio Mineral e Ósseo na Doença Renal Crônica/tratamento farmacológico
Distúrbio Mineral e Ósseo na Doença Renal Crônica/metabolismo
Seres Humanos
Fósforo/metabolismo
Prognóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
27YLU75U4W (Phosphorus)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170707
[St] Status:MEDLINE


  5 / 7523 MEDLINE  
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[PMID]:28506344
[Au] Autor:Ran Q; Xiong F; Zhu M; Deng LL; Lei PY; Luo YH; Zeng Y; Zhu GH; Song C
[Ad] Endereço:Department of Endocrinology, Children's Hospital of Chongqing Medical University, Chongqing 400014, China. xiongfengw@163.com.
[Ti] Título:[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases].
[So] Source:Zhongguo Dang Dai Er Ke Za Zhi;19(5):534-538, 2017 May.
[Is] ISSN:1008-8830
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To investigate PHEX gene mutations in 2 patients with X-linked hypophosphatemic rickets (XLH) and their families and to clarify the genetic etiology. METHODS: A retrospective analysis was performed for the clinical data of two patients with XLH. High-throughput sequencing was used to detect the PHEX gene, a pathogenic gene of XLH. PCR-Sanger sequencing was used to verify the distribution of mutations in families. RESULTS: Both patients had novel mutations in the PHEX gene; one patient had a frameshift mutation, c.931dupC, which caused early termination of translation and produced the truncated protein p.Gln311Profs*13; the other patient had a splice site mutation, IVS14+1G>A, which caused the skipping of exon 15 and produced an incomplete amino acid chain. Their parents had normal gene phenotypes. CONCLUSIONS: c.931dupC and IVS14+1G>A are two novel mutations of the PHEX gene and might be the new pathogenic mutations of XLH.
[Mh] Termos MeSH primário: Raquitismo Hipofosfatêmico Familiar/genética
Mutação
Endopeptidase Neutra Reguladora de Fosfato PHEX/genética
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Feminino
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Estudos Retrospectivos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.4.24.- (PHEX Phosphate Regulating Neutral Endopeptidase); EC 3.4.24.- (PHEX protein, human)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170831
[Lr] Data última revisão:
170831
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170517
[St] Status:MEDLINE


  6 / 7523 MEDLINE  
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[PMID]:28495360
[Au] Autor:Hanudel MR; Froch L; Gales B; Jüppner H; Salusky IB
[Ad] Endereço:Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA. Electronic address: mhanudel@mednet.ucla.edu.
[Ti] Título:Fractures and Osteomalacia in a Patient Treated With Frequent Home Hemodialysis.
[So] Source:Am J Kidney Dis;70(3):445-448, 2017 Sep.
[Is] ISSN:1523-6838
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Bone deformities and fractures are common consequences of renal osteodystrophy in the dialysis population. Persistent hypophosphatemia may be observed with more frequent home hemodialysis regimens, but the specific effects on the skeleton are unknown. We present a patient with end-stage renal disease treated with frequent home hemodialysis who developed severe bone pain and multiple fractures, including a hip fracture and a tibia-fibula fracture complicated by nonunion, rendering her nonambulatory and wheelchair bound for more than a year. A bone biopsy revealed severe osteomalacia, likely secondary to chronic hypophosphatemia and hypocalcemia. Treatment changes included the addition of phosphate to the dialysate, a higher dialysate calcium concentration, and increased calcitriol dose. Several months later, the patient no longer required a wheelchair and was able to ambulate without pain. Repeat bone biopsy revealed marked improvements in bone mineralization and turnover parameters. Also, with increased dialysate phosphate and calcium concentrations, as well as increased calcitriol, circulating fibroblast growth factor 23 levels increased.
[Mh] Termos MeSH primário: Fraturas Ósseas
Hemodiálise no Domicílio/efeitos adversos
Hipofosfatemia/diagnóstico
Falência Renal Crônica/terapia
Osteomalacia
Fosfatos
[Mh] Termos MeSH secundário: Calcificação Fisiológica/efeitos dos fármacos
Calcificação Fisiológica/fisiologia
Distúrbio Mineral e Ósseo na Doença Renal Crônica/sangue
Distúrbio Mineral e Ósseo na Doença Renal Crônica/diagnóstico
Distúrbio Mineral e Ósseo na Doença Renal Crônica/etiologia
Soluções para Diálise/farmacologia
Gerenciamento Clínico
Feminino
Fraturas Ósseas/diagnóstico
Fraturas Ósseas/etiologia
Fraturas Ósseas/terapia
Hemodiálise no Domicílio/métodos
Seres Humanos
Testes de Função Renal/métodos
Efeitos Adversos de Longa Duração/sangue
Efeitos Adversos de Longa Duração/diagnóstico
Meia-Idade
Osteomalacia/sangue
Osteomalacia/diagnóstico
Osteomalacia/etiologia
Fosfatos/administração & dosagem
Fosfatos/metabolismo
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Dialysis Solutions); 0 (Phosphates)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170912
[Lr] Data última revisão:
170912
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170513
[St] Status:MEDLINE


  7 / 7523 MEDLINE  
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[PMID]:28493902
[Au] Autor:Behets GJ; Viaene L; Meijers B; Blocki F; Brandenburg VM; Verhulst A; D'Haese PC; Evenepoel P
[Ad] Endereço:University of Antwerp, Dept. Biomedical Sciences, Laboratory of Pathophysiology, Wilrijk, Belgium.
[Ti] Título:Circulating levels of sclerostin but not DKK1 associate with laboratory parameters of CKD-MBD.
[So] Source:PLoS One;12(5):e0176411, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Mounting evidence indicates that a disturbed Wnt-ß-catenin signaling may be involved in the pathogenesis of chronic kidney disease-mineral and bone and mineral disorder (CKD-MBD). Data on the impact of CKD on circulating levels of the Wnt antagonists sclerostin and Dickkopf related protein 1 (DKK1) and the relationship with laboratory parameters of CKD-MBD are incomplete. METHODS: We analyzed serum sclerostin and DKK1 in 308 patients across the stages of chronic kidney disease (kDOQI stage 1-2 n = 41; CKD stage 3 n = 54; CKD stage 4-5 n = 54; hemodialysis n = 100; peritoneal dialysis n = 59) as well as in 49 healthy controls. We investigated associations with demographics, renal function, parameters of mineral metabolism including 25(OH) vitamin D, 1,25(OH)2 vitamin D, biointact fibroblast growth factor 23 (FGF23), and parathyroid hormone (PTH), and bone turnover markers. RESULTS: Serum sclerostin, but not DKK1, increases in more advanced stages of CKD and associates with PTH, phosphate, and 1,25(OH)2 vitamin D concentrations. Bone turnover markers are highest in hemodialysis patients presenting the combination of high PTH with low sclerostin level. Serum DKK1 levels are lower in CKD patients than in controls and are not associated with laboratory parameters of mineral metabolism. Interestingly, a direct association between DKK1 and platelet count was observed. CONCLUSION: In CKD, serum levels of the Wnt inhibitors DKK1 and sclerostin are unrelated, indicating different sites of origin and/ or different regulatory mechanisms. Sclerostin, as opposed to DKK1, may qualify as a biomarker of CKD-MBD, particularly in dialysis patients. DKK1 serum levels, remarkably, correlate almost uniquely with blood platelet counts.
[Mh] Termos MeSH primário: Proteínas Morfogenéticas Ósseas/sangue
Distúrbio Mineral e Ósseo na Doença Renal Crônica/sangue
Peptídeos e Proteínas de Sinalização Intercelular/sangue
Rim/metabolismo
[Mh] Termos MeSH secundário: Idoso
Plaquetas/metabolismo
Distúrbio Mineral e Ósseo na Doença Renal Crônica/fisiopatologia
Feminino
Fatores de Crescimento de Fibroblastos/sangue
Marcadores Genéticos
Voluntários Saudáveis
Seres Humanos
Rim/patologia
Masculino
Meia-Idade
Hormônio Paratireóideo/sangue
Diálise Peritoneal
Fosfatos/metabolismo
Diálise Renal
Vitamina D/sangue
Via de Sinalização Wnt/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Bone Morphogenetic Proteins); 0 (DKK1 protein, human); 0 (Genetic Markers); 0 (Intercellular Signaling Peptides and Proteins); 0 (Parathyroid Hormone); 0 (Phosphates); 0 (SOST protein, human); 0 (fibroblast growth factor 23); 1406-16-2 (Vitamin D); 62031-54-3 (Fibroblast Growth Factors)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170512
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0176411


  8 / 7523 MEDLINE  
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[PMID]:28397222
[Au] Autor:Li J; Xu P; Huang S; Gao M; Zou Y; Kang R; Gao Y
[Ad] Endereço:Center for Reproductive Medicine, Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, Shandong 250000, China. gaoyuan@sduivf.com.
[Ti] Título:[Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(2):216-219, 2017 Apr 10.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To identify potential mutation of PHEX gene in two patients from a family affected with X-linked hypophosphatemia (XLH). METHODS: PCR and Sanger sequencing were performed on blood samples from the patients and 100 healthy controls. Reverse transcription-PCR (RT-PCR) was used to determine the mRNA expression in patient samples. RESULTS: A splicing site mutation, IVS21+2T>G, was found in the PHEX gene in both patients but not among the 100 healthy controls. RT-PCR confirmed that exon 21 of the PHEX gene was deleted. CONCLUSION: The novel splicing mutation IVS21+2T>G of the PHEX gene probably underlies the XLH in this pedigree. At the mRNA level, the mutation has led to removal of exon 21 and shift of the open reading frame (p.Val691fsx), resulting in premature termination of protein translation.
[Mh] Termos MeSH primário: Raquitismo Hipofosfatêmico Familiar/genética
Doenças Genéticas Ligadas ao Cromossomo X/genética
Endopeptidase Neutra Reguladora de Fosfato PHEX/genética
Processamento de RNA
[Mh] Termos MeSH secundário: Adulto
Sequência de Bases
Análise Mutacional de DNA
Éxons
Feminino
Seres Humanos
Masculino
Meia-Idade
Dados de Sequência Molecular
Mutação
Linhagem
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.4.24.- (PHEX Phosphate Regulating Neutral Endopeptidase); EC 3.4.24.- (PHEX protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170914
[Lr] Data última revisão:
170914
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170412
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.02.014


  9 / 7523 MEDLINE  
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[PMID]:28315917
[Au] Autor:Xu C; Ma C; Bai Y
[Ad] Endereço:Nuclear Medicine, Shaanxi Provincial People's Hospital, Affiliated to School of Medicine Xian Jiaotong University, Xian, Shaanxi, China. baiyongli200672@163.com.
[Ti] Título:A pediatric hypophosphatemic rickets on MRI, Tc-MDP bone scan and F-FDG PET/CT.
[So] Source:Hell J Nucl Med;20(1):93-96, 2017 Jan-Apr.
[Is] ISSN:1790-5427
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:We present a case of a 13 years old boy who was hospitalized with a 10 months history of progressive pain and weakness in his lower extremities. The laboratory tests revealed slightly decreased phosphate and 25-hydroxyvitamin D3, high alkaline phosphatase, normal calcium and parathyroid hormone (PTH). Magnetic resonance imaging (MRI) showed multiple patchy lesions indicating bone destruction in the metaphyses and epiphyses of the left knee. Fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography ( F-FDG PET/CT) revealed a generalized decrease of bone density in axial bones with slightly increased F-FDG metabolism. Whole body technetium-99m methylene diphosphonate ( Tc-MDP) scintigraphy revealed multiple areas of increased uptake at costochondral junctions of the ribs bilaterally suggesting a rachitic rosary and at the metaphyses of the bones of the limbs. Based on these findings we suggested the diagnosis of hypophosphatemic rickets (HPR). Phosphate and vitamin D substitution resulted in clinical improvement of the symptoms after 3 months.
[Mh] Termos MeSH primário: Fluordesoxiglucose F18
Imagem por Ressonância Magnética/métodos
Tomografia Computadorizada com Tomografia por Emissão de Pósitrons/métodos
Raquitismo Hipofosfatêmico/diagnóstico por imagem
Medronato de Tecnécio Tc 99m
[Mh] Termos MeSH secundário: Adolescente
Diagnóstico Diferencial
Seres Humanos
Masculino
Compostos Radiofarmacêuticos
[Pt] Tipo de publicação:CASE REPORTS
[Nm] Nome de substância:
0 (Radiopharmaceuticals); 0Z5B2CJX4D (Fluorodeoxyglucose F18); X89XV46R07 (Technetium Tc 99m Medronate)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170619
[Lr] Data última revisão:
170619
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170320
[St] Status:MEDLINE
[do] DOI:10.1967/s002449910515


  10 / 7523 MEDLINE  
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[PMID]:28301319
[Au] Autor:Andary R; El-Hage-Sleiman AK; Farhat T; Sanjad S; Nemer G
[Ad] Endereço:Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut.
[Ti] Título:Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes.
[So] Source:J Pediatr Endocrinol Metab;30(4):437-444, 2017 Apr 01.
[Is] ISSN:2191-0251
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene. Variable phenotypes have been associated with these mutations, and some of these were linked to the effects they have on the interacting partners of VDR, mainly the retinoic X receptor (RXR). METHODS: We examined four patients with HVDRR from three unrelated Lebanese families. All parents were consanguineous with normal phenotype. We used Sanger sequencing to identify mutations in the coding exons of VDR. RESULTS: Two homozygous mutations (p.R391S and p.H397P), both in exon 9 of the VDR gene, were identified. Phenotype/genotype association was not possible even for the same mutation. Alopecia was seen only with the p.R391S mutation. Despite a comparable rachitic bone disease, the patients showed different responsiveness to large doses of alfacalcidol (1-α-hydroxy vitamin D3) supplementation. CONCLUSIONS: This is the first report of VDR mutations in Lebanon with promising clinical outcomes despite the severity of the phenotypes.
[Mh] Termos MeSH primário: Raquitismo Hipofosfatêmico Familiar/genética
Mutação/genética
Receptores de Calcitriol/genética
[Mh] Termos MeSH secundário: Pré-Escolar
Raquitismo Hipofosfatêmico Familiar/epidemiologia
Feminino
Seguimentos
Homozigoto
Seres Humanos
Lactente
Líbano/epidemiologia
Masculino
Linhagem
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptors, Calcitriol); 0 (VDR protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170912
[Lr] Data última revisão:
170912
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170317
[St] Status:MEDLINE



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