Base de dados : MEDLINE
Pesquisa : C06.552.830.150 [Categoria DeCS]
Referências encontradas : 725 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 73 ir para página                         

  1 / 725 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28854095
[Au] Autor:Bissell DM; Anderson KE; Bonkovsky HL
[Ad] Endereço:From the Department of Medicine, Division of Gastroenterology and Porphyria Center, University of California, San Francisco, San Francisco (D.M.B.); the Departments of Preventive Medicine and Community Health and Internal Medicine, Division of Gastroenterology and Hepatology, University of Texas Medical Branch, Galveston (K.E.A.); and the Department of Gastroenterology, Wake Forest School of Medicine, Winston-Salem, NC (H.L.B.).
[Ti] Título:Porphyria.
[So] Source:N Engl J Med;377(9):862-872, 2017 Aug 31.
[Is] ISSN:1533-4406
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Porfiria Cutânea Tardia
Porfiria Aguda Intermitente
Protoporfiria Eritropoética
[Mh] Termos MeSH secundário: Feminino
Heme/biossíntese
Hemina/uso terapêutico
Seres Humanos
Masculino
Flebotomia
Porfobilinogênio/sangue
Porfiria Cutânea Tardia/complicações
Porfiria Cutânea Tardia/diagnóstico
Porfiria Cutânea Tardia/terapia
Porfiria Aguda Intermitente/complicações
Porfiria Aguda Intermitente/diagnóstico
Porfiria Aguda Intermitente/terapia
Porfirinas/análise
Prognóstico
Protoporfiria Eritropoética/complicações
Protoporfiria Eritropoética/diagnóstico
Protoporfiria Eritropoética/terapia
RNA Interferente Pequeno/uso terapêutico
Luz Solar/efeitos adversos
Avaliação de Sintomas
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Porphyrins); 0 (RNA, Small Interfering); 42VZT0U6YR (Heme); 743LRP9S7N (Hemin); 74KHC72QXK (Porphobilinogen)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170906
[Lr] Data última revisão:
170906
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170831
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMra1608634


  2 / 725 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28666226
[Au] Autor:Gomez-Gomez A; Marcos J; Aguilera P; To-Figueras J; Pozo OJ
[Ad] Endereço:Integrative Pharmacology and Systems Neuroscience Group, IMIM, Hospital del Mar, Doctor Aiguader 88, Barcelona, Spain; Programa De Recerca En Epidemiologia I Salut Pública, ISGlobal, Campus Mar, Doctor Aiguader 88, Barcelona, Spain; Universitat Pompeu Fabra (CEXS-UPF), Doctor Aiguader 88, Barcelona,
[Ti] Título:Comprehensive analysis of the tryptophan metabolome in urine of patients with acute intermittent porphyria.
[So] Source:J Chromatogr B Analyt Technol Biomed Life Sci;1060:347-354, 2017 Aug 15.
[Is] ISSN:1873-376X
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Acute intermittent porphyria (AIP) is a rare metabolic disorder due to a deficiency of porphobilinogen deaminase, the third enzyme of the heme biosynthetic pathway. This low enzymatic activity may predispose to the appearance of acute neurological attacks. Seminal studies suggested that AIP was associated with changes in tryptophan homeostasis with inconclusive results. Therefore, the aim of this study was to analyze the urinary metabolome of AIP patients focusing on tryptophan metabolism using state-of-the-art technology. METHODS: This was a case-control study including a group of 25 AIP patients with active biochemical disease and increased excretion of heme-precursors and 25 healthy controls. Tryptophan and related compounds and metabolites including: large neutral amino acids (LNAAs), serotonin, kynurenine, kynurenic acid and anthranilic acid were quantified in urine by liquid chromatography tandem-mass spectrometry (LC-MS/MS). Twenty-nine biological markers (including metabolic ratios and absolute concentrations) were compared between patients and controls. RESULTS: Significant differences were found in the tryptophan-kynurenine metabolic pathway. Compared to controls, AIP patients showed: (a) increased urinary excretion of kynurenine and anthranilic acid (P<0.005); (b): elevation of the kynurenine/tryptophan ratio (P<0.001) and (c): decrease of the kynurenic acid/kynurenine ratio (P=0.001). In contrast, no differences were found in the serotonin metabolic pathway independently of the markers and ratios used. CONCLUSIONS: The results of the study demonstrate that there is an imbalance in the kynurenine metabolic pathway in AIP patients, with an increase of the kynurenine/tryptophan ratio in urine and a reduction of the kynurenic acid/kynurenine ratio. The modified ratios suggest induction of indoleamine 2,3-deoxygenase and decreased activity of kynurenine aminotransferase in the liver. The results confirm that LC-MS/MS is useful for the characterization of the urinary metabolome of hepatic porphyrias.
[Mh] Termos MeSH primário: Metaboloma/fisiologia
Metabolômica/métodos
Porfiria Aguda Intermitente/urina
Triptofano/metabolismo
Triptofano/urina
[Mh] Termos MeSH secundário: Adulto
Biomarcadores/metabolismo
Biomarcadores/urina
Estudos de Coortes
Feminino
Seres Humanos
Cinurenina/metabolismo
Masculino
Meia-Idade
Porfiria Aguda Intermitente/metabolismo
Serotonina/metabolismo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 333DO1RDJY (Serotonin); 343-65-7 (Kynurenine); 8DUH1N11BX (Tryptophan)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170915
[Lr] Data última revisão:
170915
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170701
[St] Status:MEDLINE


  3 / 725 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28348263
[Au] Autor:Babar MU; Hakeem H; Khan S
[Ad] Endereço:Department of Neurology, Aga Khan University Hospital, Karachi, Pakistan.
[Ti] Título:Pure motor axonal neuropathy triggered by antituberculous therapy in an undiagnosed case of acute intermittent porphyria.
[So] Source:BMJ Case Rep;2017, 2017 Mar 27.
[Is] ISSN:1757-790X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:A man aged 22 years misdiagnosed as suffering from recurrent abdominal tuberculosis, in view of recurrent abdominal pain was treated for abdominal tuberculosis in the past. The patient was prescribed antituberculous therapy. 2 months after starting treatment, he developed progressive weakness of all 4 limbs. Electrodiagnostic examination revealed an acute severe motor axonal neuropathy. Further workup revealed elevated porphyrin precursors in urine.
[Mh] Termos MeSH primário: Antituberculosos/efeitos adversos
Neuropatia Axonal Gigante/induzido quimicamente
Porfiria Aguda Intermitente/diagnóstico
Tuberculose/diagnóstico
[Mh] Termos MeSH secundário: Dor Abdominal/etiologia
Erros de Diagnóstico
Seres Humanos
Masculino
Tuberculose/tratamento farmacológico
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antitubercular Agents)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170512
[Lr] Data última revisão:
170512
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170329
[St] Status:MEDLINE


  4 / 725 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28321076
[Au] Autor:Takata T; Kume K; Kokudo Y; Ikeda K; Kamada M; Touge T; Deguchi K; Masaki T
[Ad] Endereço:Department of Neurology, Kagawa University Hospital, Japan.
[Ti] Título:Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome, Accompanied by Prolonged Vasoconstriction.
[So] Source:Intern Med;56(6):713-717, 2017.
[Is] ISSN:1349-7235
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:A 20-year-old Japanese woman had an attack of acute intermittent porphyria (AIP). Magnetic resonance imaging (MRI) revealed symmetrical lesions in the cerebrum and cerebellar hemisphere, corresponding to posterior reversible encephalopathy syndrome (PRES). Our administration of heme arginate gradually improved the clinical condition associated with AIP and the level of metabolite of nitric oxide (NO), which is a vascular dilator. Repeated MRI and magnetic resonance angiography revealed exacerbated PRES, part of which showed a small infarction, accompanied by progressive vasoconstriction. These findings suggest that the recovery of NO by heme replacement alone is insufficient for preventing brain damage during an AIP attack.
[Mh] Termos MeSH primário: Porfiria Aguda Intermitente/complicações
Síndrome da Leucoencefalopatia Posterior/complicações
[Mh] Termos MeSH secundário: Arginina/uso terapêutico
Feminino
Heme/uso terapêutico
Seres Humanos
Angiografia por Ressonância Magnética
Imagem por Ressonância Magnética
Síndrome da Leucoencefalopatia Posterior/diagnóstico por imagem
Síndrome da Leucoencefalopatia Posterior/tratamento farmacológico
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
42VZT0U6YR (Heme); 94ZLA3W45F (Arginine); R1B526117P (heme arginate)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170516
[Lr] Data última revisão:
170516
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170322
[St] Status:MEDLINE
[do] DOI:10.2169/internalmedicine.56.7654


  5 / 725 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27982422
[Au] Autor:Stein PE; Badminton MN; Rees DC
[Ad] Endereço:Department of Haematological Medicine, King's College Hospital, London, UK.
[Ti] Título:Update review of the acute porphyrias.
[So] Source:Br J Haematol;176(4):527-538, 2017 Feb.
[Is] ISSN:1365-2141
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Acute porphyrias are rare inherited disorders due to deficiencies of haem synthesis enzymes. To date, all UK cases have been one of the three autosomal dominant forms, although penetrance is low and most gene carriers remain asymptomatic. Clinical presentation is typically with acute neurovisceral attacks characterised by severe abdominal pain, vomiting, tachycardia and hypertension. Severe attacks may be complicated by hyponatraemia, peripheral neuropathy sometimes causing paralysis, seizures and psychiatric features. Attacks are triggered by prescribed drugs, alcohol, hormonal changes, fasting or stress. The diagnosis is made by finding increased porphobilinogen excretion in a light-protected random urine sample. Management includes administration of intravenous human haemin and supportive treatment with non-porphyrinogenic drugs. A few patients develop recurrent attacks, a chronic illness requiring specialist management. Late complications include chronic pain, hepatocellular carcinoma, chronic renal failure and hypertension. In the UK, the National Acute Porphyria Service provides clinical advice and supplies haemin when indicated.
[Mh] Termos MeSH primário: Porfiria Aguda Intermitente
[Mh] Termos MeSH secundário: Doença Crônica
Gerenciamento Clínico
Seres Humanos
Porfiria Aguda Intermitente/diagnóstico
Porfiria Aguda Intermitente/patologia
Porfiria Aguda Intermitente/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170608
[Lr] Data última revisão:
170608
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161217
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.14459


  6 / 725 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27859020
[Au] Autor:Storjord E; Dahl JA; Landsem A; Fure H; Ludviksen JK; Goldbeck-Wood S; Karlsen BO; Berg KS; Mollnes TE; W Nielsen E; Brekke OL
[Ad] Endereço:Department of Laboratory Medicine, Nordland Hospital, Bodø, Norway.
[Ti] Título:Systemic inflammation in acute intermittent porphyria: a case-control study.
[So] Source:Clin Exp Immunol;187(3):466-479, 2017 Mar.
[Is] ISSN:1365-2249
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:This study aimed to examine whether acute intermittent porphyria (AIP) is associated with systemic inflammation and whether the inflammation correlates with disease activity. A case-control study with 50 AIP cases and age-, sex- and place of residence-matched controls was performed. Plasma cytokines, insulin and C-peptide were analysed after an overnight fast using multiplex assay. Long pentraxin-3 (PTX3) and complement activation products (C3bc and TCC) were analysed using enzyme-linked immunosorbent assay (ELISA). Urine porphobilinogen ratio (U-PBG, µmol/mmol creatinine), haematological and biochemical tests were performed using routine methods. Questionnaires were used to register AIP symptoms, medication and other diseases. All 27 cytokines, chemokines and growth factors investigated were increased significantly in symptomatic AIP cases compared with controls (P < 0·0004). Hierarchical cluster analyses revealed a cluster with high visfatin levels and several highly expressed cytokines including interleukin (IL)-17, suggesting a T helper type 17 (Th17) inflammatory response in a group of AIP cases. C3bc (P = 0·002) and serum immunoglobulin (Ig)G levels (P = 0·03) were increased significantly in cases with AIP. The U-PBG ratio correlated positively with PTX3 (r = 0·38, P = 0·006), and with terminal complement complex (TCC) levels (r = 0·33, P = 0·02). PTX3 was a significant predictor of the biochemical disease activity marker U-PBG in AIP cases after adjustment for potential confounders in multiple linear regression analyses (P = 0·032). Prealbumin, C-peptide, insulin and kidney function were all decreased in the symptomatic AIP cases, but not in the asymptomatic cases. These results indicate that AIP is associated with systemic inflammation. Decreased C-peptide levels in symptomatic AIP cases indicate that reduced insulin release is associated with enhanced disease activity and reduced kidney function.
[Mh] Termos MeSH primário: Inflamação/sangue
Porfiria Aguda Intermitente/sangue
[Mh] Termos MeSH secundário: Biomarcadores/sangue
Peptídeo C/sangue
Estudos de Casos e Controles
Citocinas/sangue
Feminino
Seres Humanos
Imunoglobulina G/sangue
Inflamação/imunologia
Inflamação/metabolismo
Insulina/sangue
Rim/imunologia
Rim/fisiopatologia
Masculino
Meia-Idade
Porfiria Aguda Intermitente/imunologia
Porfiria Aguda Intermitente/metabolismo
Pré-Albumina/metabolismo
Linfócitos T Auxiliares-Indutores/imunologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (C-Peptide); 0 (Cytokines); 0 (Immunoglobulin G); 0 (Insulin); 0 (Prealbumin)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170502
[Lr] Data última revisão:
170502
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161119
[St] Status:MEDLINE
[do] DOI:10.1111/cei.12899


  7 / 725 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27849156
[Au] Autor:Fortgens P; Pienaar E; Corrigall A; Sonderup M; Spearman CW; Meissner P
[Ad] Endereço:Division of Chemical Pathology, Department of Pathology, Groote Schuur Hospital, University of Cape Town, Observatory, South Africa.
[Ti] Título:Molecular characterisation of acute intermittent porphyria in a cohort of South African patients and kinetic analysis of two expressed mutants.
[So] Source:J Clin Pathol;70(6):515-520, 2017 Jun.
[Is] ISSN:1472-4146
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIMS: Acute intermittent porphyria (AIP) is a disorder of the haem biosynthetic pathway caused by mutations in the hydroxymethylbilane synthase ( ) gene. Knowledge of the spectrum of mutations present in South Africa is limited. This study presents the molecular profile of 20 South African patients with AIP, and the kinetic analysis of one novel expressed mutated HMBS enzyme and a previously identified mutation at the same position. METHODS: Genomic DNA was isolated from affected probands and selected family members, the gene amplified and mutations characterised by direct sequencing and restriction enzyme analysis. One of the novel mutations (p.Lys98Glu), a previously characterised mutation at the same position (p.Lys98Arg), and the wild-type enzyme were expressed, purified and subjected to partial kinetic characterisation. RESULTS: Four new mutations, p.Lys98Glu, p.Asp230Aspfs 20, c.161-1G>A and c.422+3_6delAAGT, are described. Seven previously described mutations were found, while four patients revealed no mutations. Mutation analysis of five offspring of one of the probands carrying the p.Trp283X mutation revealed two asymptomatic carriers. Kinetic analysis showed that the p.Lys98Glu mutation results in loss of substrate affinity, whereas the previously described p.Lys98Arg mutation causes the loss of binding between the enzyme and its dipyrromethane cofactor, rendering the enzyme inactive. CONCLUSIONS: This study comprises the most comprehensive characterisation of gene mutations in patients with AIP in South Africa. The biochemical characterisation of expressed mutants reveals insight into the mechanism of catalytic activity loss, which may inspire investigation into individualised therapy based on the molecular lesion identified.
[Mh] Termos MeSH primário: Hidroximetilbilano Sintase/genética
Mutação/genética
Porfiria Aguda Intermitente/genética
[Mh] Termos MeSH secundário: Grupo com Ancestrais do Continente Africano/etnologia
Grupo com Ancestrais do Continente Africano/genética
Estudos de Coortes
Feminino
Seres Humanos
Masculino
Porfiria Aguda Intermitente/etnologia
África do Sul/etnologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.5.1.61 (Hydroxymethylbilane Synthase)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170815
[Lr] Data última revisão:
170815
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161117
[St] Status:MEDLINE
[do] DOI:10.1136/jclinpath-2016-203907


  8 / 725 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27584135
[Au] Autor:Bonnefoy Mirralles AM; Torres-Castro R; Ovalle Guzman C
[Ad] Endereço:From the Rehabilitation Unit, Clínica Los Coihues, Santiago, Chile (ABM, RT-C, COG); Department of Physical Therapy, Faculty of Medicine, University of Chile, Santiago, Chile (RT-C); and Center of Integrated Studies of Neurorehabilitation, Clínica Los Coihues, Santiago, Chile (RT-C).
[Ti] Título:A Comprehensive Rehabilitation Program and Follow-up Assessment for Acute Intermittent Porphyria.
[So] Source:Am J Phys Med Rehabil;96(5):e85-e88, 2017 May.
[Is] ISSN:1537-7385
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Acute intermittent porphyria (AIP) is an infrequent metabolic disease that can cause severe disability or death without timely treatment. A porphyric attack occurs when genetic factors combine with trigger factors, and diagnosis may be delayed owing to nonspecific symptoms. Recovery from AIP can be nearly or fully complete with proper treatment, which includes intravenous hematin administration, the control of trigger factors, and a comprehensive rehabilitation program. The aim of this case report was to describe the clinical evolution of a 43-year-old woman with AIP and a polyneuropathy. The patient was treated through a comprehensive rehabilitation program, with outcomes evaluated by the Functional Independence Measure and the Berg scales during rehabilitation and postdischarge follow-up. After completing the comprehensive rehabilitation program, the patient achieved a satisfactory level of functional independence, allowing for social and work reintegration. We conclude that an early and multidisciplinary approach is essential for regaining optimal functionality after AIP.
[Mh] Termos MeSH primário: Terapia Ocupacional
Modalidades de Fisioterapia
Porfiria Aguda Intermitente/reabilitação
Terapia Respiratória
[Mh] Termos MeSH secundário: Adulto
Avaliação da Deficiência
Feminino
Seguimentos
Hemina/uso terapêutico
Seres Humanos
Força Muscular
Retorno ao Trabalho
Desmame do Respirador
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
743LRP9S7N (Hemin)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170424
[Lr] Data última revisão:
170424
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160902
[St] Status:MEDLINE
[do] DOI:10.1097/PHM.0000000000000590


  9 / 725 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
[PMID]:27804912
[Au] Autor:Fontanellas A; Ávila MA; Berraondo P
[Ad] Endereço:Hepatology Area,Centre for Applied Medical Research,University of Navarra,Spain.
[Ti] Título:Emerging therapies for acute intermittent porphyria.
[So] Source:Expert Rev Mol Med;18:e17, 2016 Nov 02.
[Is] ISSN:1462-3994
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Acute intermittent porphyria (AIP) is an autosomal dominant metabolic disease caused by hepatic deficiency of hydroxymethylbilane synthase (HMBS), the third enzyme of the heme synthesis pathway. The dominant clinical feature is acute neurovisceral attack associated with high production of potentially neurotoxic porphyrin precursors due to increased hepatic heme consumption. Current Standard of Care is based on a down-regulation of hepatic heme synthesis using heme therapy. Recurrent hyper-activation of the hepatic heme synthesis pathway affects about 5% of patients and can be associated with neurological and metabolic manifestations and long-term complications including chronic kidney disease and increased risk of hepatocellular carcinoma. Prophylactic heme infusion is an effective strategy in some of these patients, but it induces tolerance and its frequent application may be associated with thromboembolic disease and hepatic siderosis. Orthotopic liver transplantation is the only curative treatment in patients with recurrent acute attacks. Emerging therapies including replacement enzyme therapy or gene therapies (HMBS-gene transfer and ALAS1-gene expression inhibition) are being developed to improve quality of life, reduce the significant morbidity associated with current therapies and prevent late complications such as hepatocellular cancer or kidney failure in HMBS mutation carriers with long-standing high production of noxious heme precursors. Herein, we provide a critical digest of the recent literature on the topic and a summary of recently developed approaches to AIP treatment and their clinical implications.
[Mh] Termos MeSH primário: Porfiria Aguda Intermitente/terapia
[Mh] Termos MeSH secundário: Animais
Terapia Combinada
Progressão da Doença
Terapia de Reposição de Enzimas
Terapia Genética/métodos
Seres Humanos
Porfiria Aguda Intermitente/complicações
Porfiria Aguda Intermitente/etiologia
Porfiria Aguda Intermitente/prevenção & controle
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170707
[Lr] Data última revisão:
170707
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161103
[St] Status:MEDLINE


  10 / 725 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27788171
[Au] Autor:Ferrer MD; Mestre-Alfaro A; Martínez-Tomé M; Carrera-Quintanar L; Capó X; Jiménez-Monreal AM; García-Diz L; Roche E; Murcia MA; Tur JA; Pons A
[Ad] Endereço:Laboratory for Physical Activity Sciences. Research Group in Community Nutrition and Oxidative Stress. Department of Basic Biology and Health Sciences. IUNICS, University of Balearic Islands, Palma, Spain.
[Ti] Título:Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients.
[So] Source:PLoS One;11(10):e0164857, 2016.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The aims of the present study were to explore the expression pattern of haem biosynthesis enzymes in circulating cells of patients affected by two types of porphyria (acute intermittent, AIP, and variegate porphyria, VP), together with the antioxidant enzyme pattern in AIP in order to identify a possible situation of oxidative stress. Sixteen and twelve patients affected by AIP and VP, respectively, were analysed with the same numbers of healthy matched controls. Erythrocytes, neutrophils and peripheral blood mononuclear cells (PBMCs) were purified from blood, and RNA and proteins were extracted for quantitative real time PCR (qRT-PCR) and Western-blot analysis, respectively. Porhobilinogen deaminase (PBGD) and protoporphyrinogen oxidase (PPOX) gene and protein expression was analysed. Antioxidant enzyme activity and gene expression were additionally determined in blood cells, together with protein carbonyl content in plasma. PBMCs isolated from AIP patients presented low mRNA levels of PBGD when compared to controls, while PBMCs isolated from VP patients presented a decrease in PPOX mRNA. PPOX protein content was higher in AIP patients and lower in VP patients, compared to healthy controls. Regarding antioxidant enzymes, PBMCs and erythrocyte superoxide dismutase (SOD) presented statistically significant higher activity in AIP patients compared to controls, while catalase activity tended to be lower in these patients. No differences were observed regarding antioxidant gene expression in white blood cells. Circulating cells in AIP and VP patients present altered expression of haem biosynthetic enzymes, which could be useful for the differential diagnosis of these two types of porphyria in certain difficult cases. AIP patients present a condition of potential oxidative stress similar to VP patients, evidenced by the post-transcriptional activation of SOD and possible catalase impairment.
[Mh] Termos MeSH primário: Heme/biossíntese
Hidroximetilbilano Sintase/sangue
Protoporfirinogênio Oxidase/sangue
[Mh] Termos MeSH secundário: Western Blotting
Estudos de Casos e Controles
Eritrócitos/enzimologia
Feminino
Expressão Gênica
Heme/análise
Seres Humanos
Leucócitos/enzimologia
Masculino
Estresse Oxidativo
Porfiria Aguda Intermitente/sangue
Porfiria Aguda Intermitente/enzimologia
Porfiria Variegada/sangue
Porfiria Variegada/enzimologia
Reação em Cadeia da Polimerase em Tempo Real
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
42VZT0U6YR (Heme); EC 1.3.3.4 (Protoporphyrinogen Oxidase); EC 2.5.1.61 (Hydroxymethylbilane Synthase)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170613
[Lr] Data última revisão:
170613
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161028
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0164857



página 1 de 73 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde