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Referências encontradas : 316 [refinar]
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[PMID]:29195145
[Au] Autor:Sundberg J; Wibrand F; Lund AM; Christensen M
[Ad] Endereço:Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100 Copenhagen, Denmark.
[Ti] Título:Simultaneous quantification of succinylacetone and nitisinone for therapeutic drug monitoring in the treatment of Tyrosinemia type 1.
[So] Source:J Chromatogr B Analyt Technol Biomed Life Sci;1072:259-266, 2018 Jan 01.
[Is] ISSN:1873-376X
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:We present a straightforward and robust method for simultaneous quantification of succinylacetone and nitisinone in plasma using LC-ESI-MS/MS. The method has been developed for routine therapeutic drug monitoring in hepatorenal tyrosinemia type 1 (HT1) patients undergoing nitisinone treatment. Previous methods are based on separate analyses of succinylacetone and nitisinone, often using the potentially harmful compound hydrazine for derivatization of the former. In the present procedure, succinylacetone is derivatized in a single-step using butanolic HCl. Analyte extraction and sample clean-up is carried out by simple protein precipitation. The linear range for both analytes is 0.1 up to 125µM, covering the vast majority of encountered levels in real-life samples. The sensitivity and limit of quantification allows measurement of succinylacetone in the therapeutical range for HT1 patients. Stability studies show that succinylacetone is highly sensitive to storage conditions, whereas nitisinone shows little to no degradation. Correct sample handling is therefore important for reliable results when monitoring succinylacetone concentrations.
[Mh] Termos MeSH primário: Cicloexanonas/sangue
Monitoramento de Medicamentos/métodos
Heptanoatos/sangue
Nitrobenzoatos/sangue
Tirosinemias/tratamento farmacológico
[Mh] Termos MeSH secundário: Cromatografia Líquida/métodos
Cicloexanonas/uso terapêutico
Seres Humanos
Modelos Lineares
Nitrobenzoatos/uso terapêutico
Reprodutibilidade dos Testes
Sensibilidade e Especificidade
Espectrometria de Massas em Tandem/métodos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cyclohexanones); 0 (Heptanoates); 0 (Nitrobenzoates); 51568-18-4 (succinylacetone); K5BN214699 (nitisinone)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171202
[St] Status:MEDLINE


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[PMID]:29213153
[Au] Autor:Céspedes N; Valencia A; Echeverry CA; Arce-Plata MI; Colón C; Castiñeiras DE; Hurtado PM; Cocho JA; Herrera S; Arévalo-Herrera M
[Ad] Endereço:Malaria Vaccine and Drug Development Center (MVDC), Cali, Colombia.
[Ti] Título:Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia.
[So] Source:Colomb Med (Cali);48(3):113-119, 2017 Sep 30.
[Is] ISSN:1657-9534
[Cp] País de publicação:Colombia
[La] Idioma:eng
[Ab] Resumo:Introduction: Inborn errors of metabolism (IEM) represent an important public health problem due to current diagnosis and treatment limitations, poor life quality of affected patients, and consequent untimely child death. In contrast to classical methods, tandem mass spectrometry (MS/MS) has allowed simultaneous evaluation of multiple metabolites associated with IEM offering higher sensitivity, low false positive rates and high throughput. Aims: Determine concentration levels for amino acids and acylcarnitines in blood of newborns from Colombia, to establish reference values for further use in diagnosis of IEM. Methods: Implementation of a method to determine amino acids, acylcarnitines and succinylacetone in newborn dried blood spots using MS/MS, and its application in a cross-sectional study conducted in 891 healthy neonates from Cali and Quibdo cities is described. Results: fifty-seven analytes that allow the diagnosis of more than 40 different pathologies were tested. The method showed to be linear, precise and accurate. Healthy neonates 1-18 days of age were included, 523 from Cali and 368 from Quibdo; 52% male and 48% female. Age-related differences on the concentration levels of amino acids and acylcarnitines were observed whereas no significant differences by gender were found. Conclusion: The study has contributed to reveal the usual concentration levels of amino acids, acylcarnitines and succinylacetone that could be used as reference for the establishment of a newborn metabolic screening program in Colombia.
[Mh] Termos MeSH primário: Aminoácidos/sangue
Carnitina/análogos & derivados
Heptanoatos/sangue
Erros Inatos do Metabolismo/diagnóstico
Espectrometria de Massas em Tandem/métodos
[Mh] Termos MeSH secundário: Biomarcadores/sangue
Carnitina/sangue
Colômbia
Estudos Transversais
Reações Falso-Positivas
Seres Humanos
Recém-Nascido
Erros Inatos do Metabolismo/sangue
Valores de Referência
Sensibilidade e Especificidade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Amino Acids); 0 (Biomarkers); 0 (Heptanoates); 0 (acylcarnitine); 51568-18-4 (succinylacetone); S7UI8SM58A (Carnitine)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180109
[Lr] Data última revisão:
180109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171208
[St] Status:MEDLINE
[do] DOI:10.25100/cm.v48i3.2180


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[PMID]:28347842
[Au] Autor:Takeda TA; Sasai M; Adachi Y; Ohnishi K; Fujisawa JI; Izawa S; Taketani S
[Ad] Endereço:Department of Biotechnology, Kyoto Institute of Technology, Sakyo-ku, Kyoto 606-8510, Japan.
[Ti] Título:Potential role of heme metabolism in the inducible expression of heme oxygenase-1.
[So] Source:Biochim Biophys Acta;1861(7):1813-1824, 2017 07.
[Is] ISSN:0006-3002
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The degradation of heme significantly contributes to cytoprotective effects against oxidative stress and inflammation. The enzyme heme oxygenase-1 (HO-1), involved in the degradation of heme, forms carbon monoxide (CO), ferrous iron, and bilirubin in conjunction with biliverdin reductase, and is induced by various stimuli including oxidative stress and heavy metals. We examined the involvement of heme metabolism in the induction of HO-1 by the inducers sulforaphane and sodium arsenite. METHODS: We examined the expression of HO-1 in sulforaphane-, sodium arsenite- and CORM3-treated HEK293T cells, by measuring the transcriptional activity and levels of mRNA and protein. RESULTS: The blockade of heme biosynthesis by succinylacetone and N-methyl protoporphyrin, which are inhibitors of heme biosynthesis, markedly decreased the induction of HO-1. The knockdown of the first enzyme in the biosynthesis of heme, 5-aminolevulinic acid synthase, also decreased the induction of HO-1. The cessation of HO-1 induction occurred at the transcriptional and translational levels, and was mediated by the activation of the heme-binding transcriptional repressor Bach1 and translational factor HRI. CO appeared to improve the expression of HO-1 at the transcriptional and translational levels. CONCLUSIONS: We demonstrated the importance of heme metabolism in the stress-inducible expression of HO-1, and also that heme and its degradation products are protective factors for self-defense responses. GENERAL SIGNIFICANCE: The key role of heme metabolism in the stress-inducible expression of HO-1 may promote further studies on heme and its degradation products as protective factors of cellular stresses and iron homeostasis in specialized cells, organs, and whole animal systems.
[Mh] Termos MeSH primário: Heme Oxigenase-1/genética
Heme/metabolismo
[Mh] Termos MeSH secundário: Arsenitos/farmacologia
Fatores de Transcrição de Zíper de Leucina Básica/fisiologia
Monóxido de Carbono/fisiologia
Indução Enzimática
Proteínas de Grupos de Complementação da Anemia de Fanconi/fisiologia
Células HEK293
Células HeLa
Heme Oxigenase-1/biossíntese
Heptanoatos/farmacologia
Seres Humanos
Isotiocianatos/farmacologia
Protoporfirinas/farmacologia
Compostos de Sódio/farmacologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Arsenites); 0 (BACH1 protein, human); 0 (Basic-Leucine Zipper Transcription Factors); 0 (Fanconi Anemia Complementation Group Proteins); 0 (Heptanoates); 0 (Isothiocyanates); 0 (Protoporphyrins); 0 (Sodium Compounds); 42VZT0U6YR (Heme); 48OVY2OC72 (sodium arsenite); 51568-18-4 (succinylacetone); 79236-56-9 (N-methylprotoporphyrin IX); 7U1EE4V452 (Carbon Monoxide); EC 1.14.14.18 (Heme Oxygenase-1); GA49J4310U (sulforafan)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171103
[Lr] Data última revisão:
171103
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170329
[St] Status:MEDLINE


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[PMID]:27876694
[Au] Autor:Yang H; Al-Hertani W; Cyr D; Laframboise R; Parizeault G; Wang SP; Rossignol F; Berthier MT; Giguère Y; Waters PJ; Mitchell GA; Québec NTBC Study Group
[Ad] Endereço:Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada.
[Ti] Título:Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.
[So] Source:J Med Genet;54(4):241-247, 2017 Apr.
[Is] ISSN:1468-6244
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening marker for hepatorenal tyrosinemia type 1 (HT1, MIM 276700) caused by deficiency of fumarylacetoacetate hydrolase (FAH). Newborns with HT1 are usually clinically asymptomatic but show liver dysfunction with coagulation abnormalities (prolonged prothrombin time and/or high international normalised ratio). Early treatment with nitisinone (NTBC) plus dietary restriction of tyrosine and phenylalanine prevents the complications of severe liver disease and neurological crises. METHODS AND RESULTS: Six newborns referred for hypersuccinylacetonaemia but who had normal coagulation testing on initial evaluation had sequence variants in the gene, encoding maleylacetoacetate isomerase (MAAI), the enzyme preceding FAH in tyrosine degradation. Initial plasma SA levels ranged from 233 to 1282 nmol/L, greater than normal (<24 nmol/L) but less than the initial values of patients with HT1 (16 944-74 377 nmol/L, n=15). Four individuals were homozygous for c.449C>T (p.Ala150Val). One was compound heterozygous for c.259C>T (p.Arg87Ter) and an intronic sequence variant. In one, a single heterozygous sequence variant was identified, c.295G>A (p.Val99Met). Bacterial expression of p.Ala150Val and p.Val99Met revealed low MAAI activity. The six individuals with mild hypersuccinylacetonaemia (MHSA) were not treated with diet or nitisinone. Their clinical course has been normal for up to 13 years. CONCLUSIONS: MHSA can be caused by sequence variants in . Such individuals have thus far remained asymptomatic despite receiving no specific treatment.
[Mh] Termos MeSH primário: Glutationa Transferase/genética
Hidrolases/genética
Fígado/enzimologia
Tirosinemias/genética
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Feminino
Variação Genética
Glutationa Transferase/deficiência
Heptanoatos/sangue
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Hidrolases/sangue
Lactente
Recém-Nascido
Fígado/patologia
Masculino
Tirosina/sangue
Tirosinemias/sangue
Tirosinemias/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Heptanoates); 42HK56048U (Tyrosine); 51568-18-4 (succinylacetone); EC 2.5.1.- (GSTZ1 protein, human); EC 2.5.1.18 (Glutathione Transferase); EC 3.- (Hydrolases); EC 3.7.1.2 (fumarylacetoacetase)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171103
[Lr] Data última revisão:
171103
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161124
[St] Status:MEDLINE
[do] DOI:10.1136/jmedgenet-2016-104289


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[PMID]:27855279
[Au] Autor:Elgilani F; Mao SA; Glorioso JM; Yin M; Iankov ID; Singh A; Amiot B; Rinaldo P; Marler RJ; Ehman RL; Grompe M; Lillegard JB; Hickey RD; Nyberg SL
[Ad] Endereço:William J. von Liebig Center for Transplantation and Clinical Regeneration, Mayo Clinic, Rochester, Minnesota.
[Ti] Título:Chronic Phenotype Characterization of a Large-Animal Model of Hereditary Tyrosinemia Type 1.
[So] Source:Am J Pathol;187(1):33-41, 2017 Jan.
[Is] ISSN:1525-2191
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by deficiency in fumarylacetoacetate hydrolase, the last enzyme in the tyrosine catabolic pathway. In this study, we investigated whether fumarylacetoacetate hydrolase deficient (FAH ) pigs, a novel large-animal model of HT1, develop fibrosis and cirrhosis characteristic of the human disease. FAH pigs were treated with the protective drug 2-(2-nitro-4-trifluoromethylbenzoyl)-1, 3 cyclohexandione (NTBC) at a dose of 1 mg/kg per day initially after birth. After 30 days, they were assigned to one of three groups based on dosing of NTBC. Group 1 received ≥0.2 mg/kg per day, group 2 cycled on/off NTBC (0.05 mg/kg per day × 1 week/0 mg/kg per day × 3 weeks), and group 3 received no NTBC thereafter. Pigs were monitored for features of liver disease. Animals in group 1 continued to have weight gain and biochemical analyses comparable to wild-type pigs. Animals in group 2 had significant cessation of weight gain, abnormal biochemical test results, and various grades of fibrosis and cirrhosis. No evidence of hepatocellular carcinoma was detected. Group 3 animals declined rapidly, with acute liver failure. In conclusion, the FAH pig is a large-animal model of HT1 with clinical characteristics that resemble the human phenotype. Under conditions of low-dose NTBC, FAH pigs developed liver fibrosis and portal hypertension, and thus may serve as a large-animal model of chronic liver disease.
[Mh] Termos MeSH primário: Tirosinemias/patologia
[Mh] Termos MeSH secundário: Animais
Doença Crônica
Modelos Animais de Doenças
Técnicas de Imagem por Elasticidade
Feminino
Heptanoatos/metabolismo
Seres Humanos
Hidrolases/deficiência
Hidrolases/metabolismo
Rim/metabolismo
Rim/patologia
Fígado/patologia
Fígado/fisiopatologia
Cirrose Hepática/patologia
Espectroscopia de Ressonância Magnética
Masculino
Redes e Vias Metabólicas
Fenótipo
Pressão na Veia Porta
Sus scrofa
Tirosina/metabolismo
Ganho de Peso
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Heptanoates); 42HK56048U (Tyrosine); 51568-18-4 (succinylacetone); EC 3.- (Hydrolases); EC 3.7.1.2 (fumarylacetoacetase)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170522
[Lr] Data última revisão:
170522
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161118
[St] Status:MEDLINE


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[PMID]:27397503
[Au] Autor:Blackburn PR; Hickey RD; Nace RA; Giama NH; Kraft DL; Bordner AJ; Chaiteerakij R; McCormick JB; Radulovic M; Graham RP; Torbenson MS; Tortorelli S; Scott CR; Lindor NM; Milliner DS; Oglesbee D; Al-Qabandi W; Grompe M; Gavrilov DK; El-Youssef M; Clark KJ; Atwal PS; Roberts LR; Klee EW; Ekker SC
[Ad] Endereço:Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.
[Ti] Título:Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.
[So] Source:Hum Mutat;37(10):1097-105, 2016 Oct.
[Is] ISSN:1098-1004
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Tyrosinemia type I (TYRSN1, TYR I) is caused by fumarylacetoacetate hydrolase (FAH) deficiency and affects approximately one in 100,000 individuals worldwide. Pathogenic variants in FAH cause TYRSN1, which induces cirrhosis and can progress to hepatocellular carcinoma (HCC). TYRSN1 is characterized by the production of a pathognomonic metabolite, succinylacetone (SUAC) and is included in the Recommended Uniform Screening Panel for newborns. Treatment intervention is effective if initiated within the first month of life. Here, we describe a family with three affected children who developed HCC secondary to idiopathic hepatosplenomegaly and cirrhosis during infancy. Whole exome sequencing revealed a novel homozygous missense variant in FAH (Chr15(GRCh38):g.80162305A>G; NM_000137.2:c.424A > G; NP_000128.1:p.R142G). This novel variant involves the catalytic pocket of the enzyme, but does not result in increased SUAC or tyrosine, making the diagnosis of TYRSN1 problematic. Testing this novel variant using a rapid, in vivo somatic mouse model showed that this variant could not rescue FAH deficiency. In this case of atypical TYRSN1, we show how reliance on SUAC as a primary diagnostic test can be misleading in some patients with this disease. Augmentation of current screening for TYRSN1 with targeted sequencing of FAH is warranted in cases suggestive of the disorder.
[Mh] Termos MeSH primário: Carcinoma Hepatocelular/genética
Hidrolases/genética
Cirrose Hepática/genética
Neoplasias Hepáticas/genética
Mutação de Sentido Incorreto
Tirosinemias/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Animais
Carcinoma Hepatocelular/etiologia
Carcinoma Hepatocelular/patologia
Domínio Catalítico
Linhagem Celular Tumoral
Criança
Pré-Escolar
Modelos Animais de Doenças
Feminino
Heptanoatos/metabolismo
Seres Humanos
Hidrolases/química
Lactente
Cirrose Hepática/complicações
Cirrose Hepática/etiologia
Cirrose Hepática/patologia
Neoplasias Hepáticas/etiologia
Neoplasias Hepáticas/patologia
Masculino
Camundongos
Linhagem
Análise de Sequência de DNA
Tirosina/metabolismo
Tirosinemias/complicações
Tirosinemias/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Heptanoates); 42HK56048U (Tyrosine); 51568-18-4 (succinylacetone); EC 3.- (Hydrolases); EC 3.7.1.2 (fumarylacetoacetase)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160712
[St] Status:MEDLINE
[do] DOI:10.1002/humu.23047


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[PMID]:27097641
[Au] Autor:Zhi T; Zhou Z; Huang Y; Han C; Liu Y; Zhu Q; Ren C
[Ad] Endereço:Hunan Provincial Key Laboratory of Crop Germplasm Innovation and Utilization, College of Bioscience and Biotechnology, Hunan Agricultural University, Changsha, 410128, China.
[Ti] Título:Sugar suppresses cell death caused by disruption of fumarylacetoacetate hydrolase in Arabidopsis.
[So] Source:Planta;244(3):557-71, 2016 Sep.
[Is] ISSN:1432-2048
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:MAIN CONCLUSION: Sugar negatively regulates cell death resulting from the loss of fumarylacetoacetate hydrolase that catalyzes the last step in the Tyr degradation pathway in Arabidopsis . Fumarylacetoacetate hydrolase (FAH) hydrolyzes fumarylacetoacetate to fumarate and acetoacetate, the final step in the tyrosine (Tyr) degradation pathway that is essential to animals. Previously, we first found that the Tyr degradation pathway plays an important role in plants. Mutation of the SSCD1 gene encoding FAH in Arabidopsis leads to spontaneous cell death under short-day conditions. In this study, we presented that the lethal phenotype of the short-day sensitive cell death1 (sscd1) seedlings was suppressed by sugars including sucrose, glucose, fructose, and maltose in a dose-dependent manner. Real-time quantitative PCR (RT-qPCR) analysis showed the expression of Tyr degradation pathway genes homogentisate dioxygenase and maleylacetoacetate isomerase, and sucrose-processing genes cell-wall invertase 1 and alkaline/neutral invertase G, was up-regulated in the sscd1 mutant, however, this up-regulation could be repressed by sugar. In addition, a high concentration of sugar attenuated cell death of Arabidopsis wild-type seedlings caused by treatment with exogenous succinylacetone, an abnormal metabolite resulting from the loss of FAH in the Tyr degradation pathway. These results indicated that (1) sugar could suppress cell death in sscd1, which might be because sugar supply enhances the resistance of Arabidopsis seedlings to toxic effects of succinylacetone and reduces the accumulation of Tyr degradation intermediates, resulting in suppression of cell death; and (2) sucrose-processing genes cell-wall invertase 1 and alkaline/neutral invertase G might be involved in the cell death in sscd1. Our work provides insights into the relationship between sugar and sscd1-mediated cell death, and contributes to elucidation of the regulation of cell death resulting from the loss of FAH in plants.
[Mh] Termos MeSH primário: Arabidopsis/metabolismo
Metabolismo dos Carboidratos
Morte Celular
Hidrolases/metabolismo
Sacarose/metabolismo
[Mh] Termos MeSH secundário: Arabidopsis/genética
Proteínas de Arabidopsis/metabolismo
Heptanoatos
Homogentisato 1,2-Dioxigenase/metabolismo
Plântulas/metabolismo
Regulação para Cima
beta-Frutofuranosidase/metabolismo
cis-trans-Isomerases/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Arabidopsis Proteins); 0 (Heptanoates); 51568-18-4 (succinylacetone); 57-50-1 (Sucrose); EC 1.13.11.5 (Homogentisate 1,2-Dioxygenase); EC 3.- (Hydrolases); EC 3.2.1.26 (Inv1 protein, Arabidopsis); EC 3.2.1.26 (beta-Fructofuranosidase); EC 3.7.1.2 (fumarylacetoacetase); EC 5.2.- (cis-trans-Isomerases); EC 5.2.1.2 (maleylacetoacetate isomerase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:171005
[Lr] Data última revisão:
171005
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160422
[St] Status:MEDLINE
[do] DOI:10.1007/s00425-016-2530-6


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[PMID]:26602140
[Au] Autor:Chen H; Yu C
[Ad] Endereço:Department of Genetics and Genomic Sciences, Ichan School of Medicine at Mount Sinai, New York, NY, USA.
[Ti] Título:Urinary Succinylacetone Analysis by Gas Chromatography-Mass Spectrometry (GC-MS).
[So] Source:Methods Mol Biol;1378:281-90, 2016.
[Is] ISSN:1940-6029
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Succinylacetone (SA) is used for the diagnosis and monitoring of patients with tyrosinemia type I (Tyr I). SA is exclusively elevated in blood and urine of patients with Tyr I. As urinary SA concentration is much higher than blood, SA is usually tested in urine samples. Urinary SA quantitation by gas chromatography mass spectrometry (GC-MS) is described in this chapter. The urine sample in the amount of 1 µmol creatinine is used for testing. 3,4,5,6,7-(13)C5-succinylacetone ((13)C5-SA) is used as an internal standard (IS). SA and (13)C5-SA are oximated and extracted from urine with organic solvents, and then derivatized to form trimethylsilane (TMS) derivatives. TMS derivatives of SA and (13)C5-SA are detected and quantified by GC-MS using selective ion monitoring (SIM). The assay is linear from 0.05 to 450 mmol/mol creatinine to cover the broad range of urinary SA concentrations.
[Mh] Termos MeSH primário: Cromatografia Gasosa-Espectrometria de Massas/métodos
Heptanoatos/urina
Urinálise/métodos
[Mh] Termos MeSH secundário: Cromatografia Gasosa-Espectrometria de Massas/instrumentação
Seres Humanos
Recém-Nascido
Masculino
Estatística como Assunto
Urinálise/instrumentação
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Heptanoates); 51568-18-4 (succinylacetone)
[Em] Mês de entrada:1609
[Cu] Atualização por classe:151125
[Lr] Data última revisão:
151125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151126
[St] Status:MEDLINE
[do] DOI:10.1007/978-1-4939-3182-8_30


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[PMID]:26432925
[Au] Autor:Haynes CA; De Jesús VR
[Ad] Endereço:Biochemical Mass Spectrometry Laboratory, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, MS F19, Atlanta, GA 30341, USA. Electronic address: cph7@cdc.gov.
[Ti] Título:Simultaneous quantitation of hexacosanoyl lysophosphatidylcholine, amino acids, acylcarnitines, and succinylacetone during FIA-ESI-MS/MS analysis of dried blood spot extracts for newborn screening.
[So] Source:Clin Biochem;49(1-2):161-5, 2016 Jan.
[Is] ISSN:1873-2933
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: The goal of this study was to include the quantitation of hexacosanoyl lysophosphatidylcholine, a biomarker for X-linked adrenoleukodystrophy and other peroxisomal disorders, in the routine extraction and analysis procedure used to quantitate amino acids, acylcarnitines, and succinylacetone during newborn screening. Criteria for the method included use of a single punch from a dried blood spot, one simple extraction of the punch, no high-performance liquid chromatography, and utilizing tandem mass spectrometry to quantitate the analytes. DESIGN AND METHODS: Dried blood spot punches were extracted with a methanolic solution of stable-isotope labeled internal standards, formic acid, and hydrazine, followed by flow injection analysis-electrospray ionization-tandem mass spectrometry. RESULTS: Quantitation of amino acids, acylcarnitines, and hexacosanoyl lysophosphatidylcholine using this combined method was similar to results obtained using two separate methods. CONCLUSIONS: A single dried blood spot punch extracted by a rapid (45min), simple procedure can be analyzed with high throughput (2min per sample) to quantitate amino acids, acylcarnitines, succinylacetone, and hexacosanoyl lysophosphatidylcholine.
[Mh] Termos MeSH primário: Carnitina/análogos & derivados
Análise de Injeção de Fluxo/métodos
Heptanoatos/sangue
Lisofosfatidilcolinas/sangue
Triagem Neonatal
Espectrometria de Massas por Ionização por Electrospray/métodos
Espectrometria de Massas em Tandem/métodos
[Mh] Termos MeSH secundário: Calibragem
Carnitina/sangue
Cromatografia Líquida de Alta Pressão
Seres Humanos
Recém-Nascido
Controle de Qualidade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Heptanoates); 0 (Lysophosphatidylcholines); 0 (acylcarnitine); 51568-18-4 (succinylacetone); S7UI8SM58A (Carnitine)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151004
[St] Status:MEDLINE


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[PMID]:26297227
[Au] Autor:Beauloye C; Horman S; Bertrand L
[Ad] Endereço:Pole of Cardiovascular Research, Institut de Recherche Expérimentale et Clinique, Université catholique de Louvain, Brussels, Belgium; and Division of Cardiology, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
[Ti] Título:Even is better than odd: one fat may conceal another.
[So] Source:Am J Physiol Heart Circ Physiol;309(7):H1112-4, 2015 Oct.
[Is] ISSN:1522-1539
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Caprilatos/farmacologia
Ciclo do Ácido Cítrico/efeitos dos fármacos
Oxigenação por Membrana Extracorpórea
Coração/efeitos dos fármacos
Heptanoatos/farmacologia
Miocárdio/metabolismo
[Mh] Termos MeSH secundário: Animais
Masculino
[Pt] Tipo de publicação:COMMENT; EDITORIAL
[Nm] Nome de substância:
0 (Caprylates); 0 (Heptanoates)
[Em] Mês de entrada:1512
[Cu] Atualização por classe:151002
[Lr] Data última revisão:
151002
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150823
[St] Status:MEDLINE
[do] DOI:10.1152/ajpheart.00620.2015



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