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[PMID]:28283349
[Au] Autor:Wang L; Bell P; Morizono H; He Z; Pumbo E; Yu H; White J; Batshaw ML; Wilson JM
[Ad] Endereço:Gene Therapy Program, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, 125 S. 31st Street, Philadelphia, PA 19104, USA.
[Ti] Título:AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice.
[So] Source:Mol Genet Metab;120(4):299-305, 2017 Apr.
[Is] ISSN:1096-7206
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder of the urea cycle. Hemizygous males and heterozygous females may experience life-threatening elevations of ammonia in blood and brain, leading to irreversible cognitive impairment, coma, and death. Recent evidence of acute liver failure and fibrosis/cirrhosis is also emerging in OTC-deficient patients. Here, we investigated the long-term consequences of abnormal ureagenesis in female mice heterozygous (Het) for a null mutation in the OTC gene. Two-month-old Het OTC knockout (KO) mice received a single dose of self-complementary adeno-associated virus (AAV) encoding a codon-optimized human OTC gene at 1×10 , 3×10 , or 1×10 vector genome copies per mouse. We compared liver pathology from 18-month-old treated Het OTC-KO mice, age-matched untreated Het OTC-KO mice, and WT littermates, and assessed urinary orotic acid levels and vector genome copies in liver at 4, 10, and 16months following vector administration. Het OTC-KO female mice showed evidence of liver inflammation and the eventual development of significant fibrosis. Treatment with AAV gene therapy not only corrected the underlying metabolic abnormalities, but also prevented the development of liver fibrosis. Our study demonstrates that early treatment of OTC deficiency with gene therapy may prevent clinically relevant consequences of chronic liver damage from developing.
[Mh] Termos MeSH primário: Envelhecimento/genética
Vetores Genéticos/administração & dosagem
Cirrose Hepática/prevenção & controle
Doença da Deficiência de Ornitina Carbomoiltransferase/terapia
Ornitina Carbamoiltransferase/genética
[Mh] Termos MeSH secundário: Animais
Dependovirus/genética
Modelos Animais de Doenças
Feminino
Terapia Genética
Seres Humanos
Masculino
Camundongos
Camundongos Knockout
Doença da Deficiência de Ornitina Carbomoiltransferase/complicações
Doença da Deficiência de Ornitina Carbomoiltransferase/genética
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.1.3.3 (Ornithine Carbamoyltransferase)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170829
[Lr] Data última revisão:
170829
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170312
[St] Status:MEDLINE


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[PMID]:28107167
[Au] Autor:Krijt J; Sokolová J; Jesina P; Dvoráková L; Reboun M; Brennerová K; Mistrík M; Zeman J; Honzík T; Kozich V
[Ad] Endereço:.
[Ti] Título:Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency.
[So] Source:Clin Chem Lab Med;55(8):1168-1177, 2017 Jul 26.
[Is] ISSN:1437-4331
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Liver enzymes are released from hepatocytes into circulation and their activity can be measured in the blood. We examined whether the plasma activity of the liver enzyme ornithine carbamoyltransferase, determined by a novel liquid chromatography-mass spectrometry (LC-MS/MS) assay, could be utilized for the detection of OTC deficiency (OTCD), an X-linked inborn error of the urea cycle. METHODS: The plasma ornithine carbamoyltransferase (OTC) activity was assayed in the reverse reaction using isotopically labeled citrulline-d4 as a substrate and by determination of the product, ornithine-d4, by LC-MS/MS analysis. RESULTS: The plasma OTC activity in the controls was in the range of 111-658 pkat/L (n=49, median 272 pkat/L), and the activity increased linearly with serum alanine aminotransferase (ALT) and aspartate aminotransferase (AST) activities in patients with hepatopathy. The OTC activity was subsequently determined in 32 individuals carrying mutations in the OTC gene, and OTC/ALT and OTC/AST ratios were calculated to account for the degree of hepatopathy, which is a common finding in OTCD. The OTC/ALT ratio enabled clear differentiation of OTCD hemizygotes (n=11, range 0-69×10-6) from controls (504-3440×10-6). This ratio also enabled the detection of 11 of 12 symptomatic heterozygotes (range 38-794×10-6), while this marker did not allow for reliable differentiation of asymptomatic heterozygotes (n=9) from controls. CONCLUSIONS: LC-MS/MS assay of plasma OTC activity enabled the detection of all hemizygous and the majority of symptomatic heterozygous OTCD patients in the tested cohort. This study demonstrates that non-invasive assay of enzymes expressed predominantly in the liver could be used as an alternative approach for diagnosing inborn errors of metabolism.
[Mh] Termos MeSH primário: Ensaios Enzimáticos/métodos
Fígado/enzimologia
Doença da Deficiência de Ornitina Carbomoiltransferase/sangue
Doença da Deficiência de Ornitina Carbomoiltransferase/diagnóstico
Ornitina Carbamoiltransferase/sangue
[Mh] Termos MeSH secundário: Calibragem
Cromatografia Líquida
Cromossomos Humanos X/genética
Estudos de Coortes
Estabilidade Enzimática
Feminino
Heterozigoto
Seres Humanos
Modelos Lineares
Masculino
Mutação
Ornitina Carbamoiltransferase/genética
Ornitina Carbamoiltransferase/metabolismo
Doença da Deficiência de Ornitina Carbomoiltransferase/enzimologia
Espectrometria de Massas em Tandem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.1.3.3 (Ornithine Carbamoyltransferase)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170731
[Lr] Data última revisão:
170731
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170121
[St] Status:MEDLINE


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[PMID]:27891735
[Au] Autor:Rahayatri TH; Uchida H; Sasaki K; Shigeta T; Hirata Y; Kanazawa H; Mali V; Fukuda A; Sakamoto S; Kasahara M
[Ad] Endereço:Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
[Ti] Título:Hyperammonemia in ornithine transcarbamylase-deficient recipients following living donor liver transplantation from heterozygous carrier donors.
[So] Source:Pediatr Transplant;21(1), 2017 Feb.
[Is] ISSN:1399-3046
[Cp] País de publicação:Denmark
[La] Idioma:eng
[Ab] Resumo:Ornithine transcarbamylase deficiency (OTCD) is a urea cycle disorder of X-linked inheritance, affecting the detoxification of excess nitrogen and leading to hyperammonemia (hyper-NH ). Living donor liver transplantation (LDLT) has been applied for the treatment of OTCD. This case series retrospectively reviewed two OTCD patients who experienced hyper-NH following LDLT. The first case was a 5-year-old girl who had onset of OTCD at 2 years of age. Ornithine transcarbamylase (OTC) enzyme activity was 62% for the donor and 15% for the recipient. The patient suffered from recurrence of hyper-NH within 2 months following LDLT. The second case was a 5-year-old girl who had onset of OTCD at 3 years of age. OTC enzyme activity was 42.6% for the donor and 9.7% for the recipient. The patient suffered hyper-NH for 12 days starting on the date of surgery. Both of the patients transiently required continuous veno-venous hemodialysis; however, they are currently doing well without intensive medical treatment. The use of asymptomatic OTCD heterozygous donors in LDLT has been accepted with careful examination. However, an OTCD heterozygous carrier donor should be avoided if there is another donor candidate, due to the potentially fatal condition of hyper-NH following LDLT.
[Mh] Termos MeSH primário: Hiperamonemia/complicações
Falência Hepática/complicações
Falência Hepática/cirurgia
Transplante de Fígado/efeitos adversos
Doença da Deficiência de Ornitina Carbomoiltransferase/complicações
Doença da Deficiência de Ornitina Carbomoiltransferase/genética
[Mh] Termos MeSH secundário: Pré-Escolar
Feminino
Heterozigoto
Seres Humanos
Hiperamonemia/etiologia
Fígado/enzimologia
Doadores Vivos
Ornitina Carbamoiltransferase/metabolismo
Doença da Deficiência de Ornitina Carbomoiltransferase/diagnóstico
Recidiva
Diálise Renal
Estudos Retrospectivos
[Pt] Tipo de publicação:CASE REPORTS
[Nm] Nome de substância:
EC 2.1.3.3 (Ornithine Carbamoyltransferase)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161129
[St] Status:MEDLINE
[do] DOI:10.1111/petr.12848


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[PMID]:27538463
[Au] Autor:Unsinn C; Das A; Valayannopoulos V; Thimm E; Beblo S; Burlina A; Konstantopoulou V; Mayorandan S; de Lonlay P; Rennecke J; Derbinski J; Hoffmann GF; Häberle J
[Ad] Endereço:Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, 8032, Zürich, Switzerland.
[Ti] Título:Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.
[So] Source:Orphanet J Rare Dis;11(1):116, 2016 08 19.
[Is] ISSN:1750-1172
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Urea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxification. In about half of patients presenting with a UCD, the first symptoms appear within a few days after birth. These neonatal onset patients generally have a severe defect of urea cycle function and their survival and outcome prognoses are often limited. To understand better the current situation of neonatal onset in UCDs, we have performed a multicentre, retrospective, non-interventional case series study focussing on the most severe UCDs, namely defects of carbamoyl phosphate synthetase 1 (CPS1), ornithine transcarbamylase (OTC), and argininosuccinate synthetase (ASS). METHODS AND RESULTS: Data of 63 patients were collected (27 patients with ASS deficiency, 23 patients with OTC deficiency, and 12 patients with CPS1 deficiency, one patient definite diagnosis not documented). The majority of patients (43/63, 68 %) had an initial ammonia concentration exceeding 500 µmol/L (normal < 100), of which most (26/43, 60.5 %) were also encephalopathic and were treated with hemodialysis. In patients surviving the initial crisis, recurrence of hyperammonemic events within the first 1.5 years of life occurred frequently (mean 3.6 events, range 0-20). Of all patients, 16 (25.4 %) died during or immediately after the neonatal period. CONCLUSION: We observed in this cohort of neonatal onset UCD patients a high rate of initial life-threatening hyperammonemia and a high risk of recurrence of severe hyperammonemic crises. These corresponded to a high mortality rate during the entire study period (30.2 %) despite the fact that patients were treated in leading European metabolic centers. This underlines the need to critically re-evaluate the current treatment strategies in these patients.
[Mh] Termos MeSH primário: Hiperamonemia/patologia
Distúrbios Congênitos do Ciclo da Ureia/patologia
[Mh] Termos MeSH secundário: Arginina/uso terapêutico
Pré-Escolar
Feminino
Seres Humanos
Hiperamonemia/tratamento farmacológico
Hiperamonemia/mortalidade
Hiperamonemia/cirurgia
Lactente
Estimativa de Kaplan-Meier
Transplante de Fígado
Masculino
Doença da Deficiência de Ornitina Carbomoiltransferase/tratamento farmacológico
Doença da Deficiência de Ornitina Carbomoiltransferase/mortalidade
Doença da Deficiência de Ornitina Carbomoiltransferase/patologia
Doença da Deficiência de Ornitina Carbomoiltransferase/cirurgia
Prognóstico
Estudos Retrospectivos
Benzoato de Sódio/uso terapêutico
Distúrbios Congênitos do Ciclo da Ureia/tratamento farmacológico
Distúrbios Congênitos do Ciclo da Ureia/mortalidade
Distúrbios Congênitos do Ciclo da Ureia/cirurgia
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
94ZLA3W45F (Arginine); OJ245FE5EU (Sodium Benzoate)
[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:160820
[St] Status:MEDLINE
[do] DOI:10.1186/s13023-016-0493-0


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[PMID]:27377837
[Au] Autor:Açikalin A; Disel NR
[Ad] Endereço:Çukurova University, Faculty of Medicine, Department of Emergency Medicine, Adana, Turkey. Electronic address: aycaacikalin@yahoo.com.
[Ti] Título:A rare cause of postpartum coma: isolated hyperammonemia due to urea cycle disorder.
[So] Source:Am J Emerg Med;34(9):1894-5, 2016 09.
[Is] ISSN:1532-8171
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Coma
Hiperamonemia
[Mh] Termos MeSH secundário: Amônia
Feminino
Seres Humanos
Doença da Deficiência de Ornitina Carbomoiltransferase
Período Pós-Parto
Ureia
Distúrbios Congênitos do Ciclo da Ureia
[Pt] Tipo de publicação:LETTER; COMMENT
[Nm] Nome de substância:
7664-41-7 (Ammonia); 8W8T17847W (Urea)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160706
[St] Status:MEDLINE


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[PMID]:27357758
[Ti] Título:Gene-therapy trials must proceed with caution.
[So] Source:Nature;534(7609):590, 2016 06 30.
[Is] ISSN:1476-4687
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Ensaios Clínicos como Assunto
Terapia Genética/efeitos adversos
Terapia Genética/tendências
Doença da Deficiência de Ornitina Carbomoiltransferase/genética
Doença da Deficiência de Ornitina Carbomoiltransferase/terapia
[Mh] Termos MeSH secundário: Adolescente
Animais
Sistemas CRISPR-Cas/genética
Ensaios Clínicos como Assunto/legislação & jurisprudência
Terapia Genética/história
Vetores Genéticos/efeitos adversos
Vetores Genéticos/genética
História do Século XX
História do Século XXI
Seres Humanos
Masculino
Camundongos
Estados Unidos
United States Food and Drug Administration/legislação & jurisprudência
[Pt] Tipo de publicação:EDITORIAL; HISTORICAL ARTICLE
[Em] Mês de entrada:1607
[Cu] Atualização por classe:161216
[Lr] Data última revisão:
161216
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160701
[St] Status:MEDLINE
[do] DOI:10.1038/534590a


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[PMID]:27256231
[Au] Autor:Gong ZW; Han LS; Ye J; Qiu WJ; Zhang HW; Yu YG; Liang LL; Gao XL; Wang Y; Ji WJ; Gu XF
[Ad] Endereço:Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.
[Ti] Título:[Applying multiplex ligation-dependent probe amplification in the diagnosis of 5 cases with ornithine transcarbamylase deficiency].
[So] Source:Zhonghua Er Ke Za Zhi;54(6):437-40, 2016 Jun 02.
[Is] ISSN:0578-1310
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To detect large genomic deletions or duplications of ornithine transcarbamylase (OTC) gene by multiplex ligation-dependent probe amplification (MLPA). METHOD: Thirty cases of suspected OTC deficiency (OTCD) patients based on tandem-mass spectrum results were recruited in Xinhua Hospital from 2012 to 2014, among whom 13 were male and 17 were female. Sanger sequencing of OTC gene revealed mutations in 23 cases. MLPA was performed in the patients whose previous Sanger sequencing failed to detect any disease-causing mutation. The samples were treated via the steps of DNA degeneration, the probe hybridization, connecting the hybridization probe, PCR amplification and capillary electrophoresis. The data were analyzed using Coffalyser software. RESULT: Abnormal MLPA results were found in 5 patients without mutation detected in previous Sanger sequencing. Patient 1, a 9-year old girl, had a heterozygous deletion of Exon 2-4. Patient 2, a male newborn, died 10 days after birth. The examination of the mother's sample by MLPA revealed a heterozygous duplication of exon 2-6. Patient 3, a 10-day old boy, was found to harbor a hemizygous deletion of exon 7-10. Patient 4, a 2-year old girl, harbored a heterozygous deletion of exon 1-4. The fifth patient died at the age of 6 years, and his mother carried a heterozygous duplication of exon 1-4. CONCLUSION: MLPA can be helpful in detecting the OTC gene defects, particularly for OTCD patients without mutation detected by Sanger sequencing.
[Mh] Termos MeSH primário: Reação em Cadeia da Polimerase Multiplex
Doença da Deficiência de Ornitina Carbomoiltransferase/diagnóstico
Doença da Deficiência de Ornitina Carbomoiltransferase/genética
[Mh] Termos MeSH secundário: Éxons
Feminino
Heterozigoto
Seres Humanos
Recém-Nascido
Masculino
Mutação
Deleção de Sequência
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170130
[Lr] Data última revisão:
170130
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160604
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0578-1310.2016.06.010


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[PMID]:27070778
[Au] Autor:Laemmle A; Gallagher RC; Keogh A; Stricker T; Gautschi M; Nuoffer JM; Baumgartner MR; Häberle J
[Ad] Endereço:Division of Metabolism and Children`s Research Center (CRC), University Children`s Hospital, Zurich, Switzerland.
[Ti] Título:Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).
[So] Source:PLoS One;11(4):e0153358, 2016.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Acute liver failure (ALF) has been reported in ornithine transcarbamylase deficiency (OTCD) and other urea cycle disorders (UCD). The frequency of ALF in OTCD is not well-defined and the pathogenesis is not known. AIM: To evaluate the prevalence of ALF in OTCD, we analyzed the Swiss patient cohort. Laboratory data from 37 individuals, 27 females and 10 males, diagnosed between 12/1991 and 03/2015, were reviewed for evidence of ALF. In parallel, we performed cell culture studies using human primary hepatocytes from a single patient treated with ammonium chloride in order to investigate the inhibitory potential of ammonia on hepatic protein synthesis. RESULTS: More than 50% of Swiss patients with OTCD had liver involvement with ALF at least once in the course of disease. Elevated levels of ammonia often correlated with (laboratory) coagulopathy as reflected by increased values for international normalized ratio (INR) and low levels of hepatic coagulation factors which did not respond to vitamin K. In contrast, liver transaminases remained normal in several cases despite massive hyperammonemia and liver involvement as assessed by pathological INR values. In our in vitro studies, treatment of human primary hepatocytes with ammonium chloride for 48 hours resulted in a reduction of albumin synthesis and secretion by approximately 40%. CONCLUSION: In conclusion, ALF is a common complication of OTCD, which may not always lead to severe symptoms and may therefore be underdiagnosed. Cell culture experiments suggest an ammonia-induced inhibition of hepatic protein synthesis, thus providing a possible pathophysiological explanation for hyperammonemia-associated ALF.
[Mh] Termos MeSH primário: Falência Hepática Aguda/epidemiologia
Falência Hepática Aguda/patologia
Doença da Deficiência de Ornitina Carbomoiltransferase/patologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Amônia/sangue
Criança
Feminino
Seres Humanos
Hiperamonemia/sangue
Hiperamonemia/metabolismo
Hiperamonemia/patologia
Fígado/patologia
Falência Hepática Aguda/sangue
Falência Hepática Aguda/etiologia
Estudos Longitudinais
Masculino
Meia-Idade
Doença da Deficiência de Ornitina Carbomoiltransferase/sangue
Doença da Deficiência de Ornitina Carbomoiltransferase/complicações
Doença da Deficiência de Ornitina Carbomoiltransferase/metabolismo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
7664-41-7 (Ammonia)
[Em] Mês de entrada:1608
[Cu] Atualização por classe:161019
[Lr] Data última revisão:
161019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160413
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0153358


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[PMID]:26995155
[Au] Autor:Oishi Y; Kakimoto T; Yuan W; Kuno S; Yamashita H; Chiba T
[Ad] Endereço:National Center for Child Health and Development, Tokyo, Japan.
[Ti] Título:Fetal Gene Therapy for Ornithine Transcarbamylase Deficiency by Intrahepatic Plasmid DNA-Micro-Bubble Injection Combined with Hepatic Ultrasound Insonation.
[So] Source:Ultrasound Med Biol;42(6):1357-61, 2016 06.
[Is] ISSN:1879-291X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:We evaluated the therapeutic efficacy of hepatic transfection of plasmid DNA using micro-bubbles and ultrasound insonation for fetal correction of ornithine transcarbamylase (OTC) deficiency in mice. Twenty-three sparse-fur heterozygous pregnant mice (day 16 of gestation) were divided into three groups: injection of plasmid-DNA micro-bubble mixture into fetal liver with ultrasound insonation (Tr, n = 11); control group 1 (C1), injection of plasmid-DNA micro-bubble mixture into fetal liver with no insonation (n = 5); and control group 2 (C2), injection of saline-micro-bubble mixture into fetal liver with ultrasound insonation (n = 7). Levels of blood ammonia and urinary orotic acid were significantly lower in the Tr group than in the C1 and C2 groups (p < 0.05, p < 0.01, respectively), whereas OTC activity was not different between groups. Therefore, ultrasound insonation with micro-bubbles enhanced plasmid DNA transfection into fetal mouse liver, leading to one of the therapeutic methods in ammonia metabolism. This might provide more time for OTC-deficient infants until liver transplantation.
[Mh] Termos MeSH primário: Terapia Genética/métodos
Microbolhas
Doença da Deficiência de Ornitina Carbomoiltransferase/terapia
Plasmídeos/uso terapêutico
Terapia por Ultrassom/métodos
[Mh] Termos MeSH secundário: Animais
Animais Recém-Nascidos
Modelos Animais de Doenças
Feminino
Fígado
Masculino
Camundongos
Camundongos Endogâmicos BALB C
Doença da Deficiência de Ornitina Carbomoiltransferase/embriologia
Transfecção/métodos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[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:160321
[St] Status:MEDLINE


  10 / 866 MEDLINE  
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[PMID]:26975868
[Au] Autor:Chapuy CI; Sahai I; Sharma R; Zhu AX; Kozyreva ON
[Ad] Endereço:Dana-Farber Cancer Institute at St. Elizabeth's Medical Center, Boston, Massachusetts, USA.
[Ti] Título:Hyperammonemic Encephalopathy Associated With Fibrolamellar Hepatocellular Carcinoma: Case Report, Literature Review, and Proposed Treatment Algorithm.
[So] Source:Oncologist;21(4):514-20, 2016 Apr.
[Is] ISSN:1549-490X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:UNLABELLED: We report a case of a 31-year-old man with metastatic fibrolamellar hepatocellular carcinoma (FLHCC) treated with gemcitabine and oxaliplatin complicated by hyperammonemic encephalopathy biochemically consistent with acquired ornithine transcarbamylase deficiency. Awareness of FLHCC-associated hyperammonemic encephalopathy and a pathophysiology-based management approach can optimize patient outcome and prevent serious complications. A discussion of the management, literature review, and proposed treatment algorithm of this rare metabolic complication are presented. IMPLICATIONS FOR PRACTICE: Pathophysiology-guided management of cancer-associated hyperammonemic encephalopathy can improve patient outcome and prevent life-threatening complications. Community and academic oncologists should be aware of this serious metabolic complication of cancer and be familiar with its management.
[Mh] Termos MeSH primário: Encefalopatias/patologia
Carcinoma Hepatocelular/tratamento farmacológico
Hiperamonemia/patologia
Neoplasias Hepáticas/tratamento farmacológico
[Mh] Termos MeSH secundário: Adulto
Encefalopatias/induzido quimicamente
Carcinoma Hepatocelular/complicações
Carcinoma Hepatocelular/patologia
Desoxicitidina/administração & dosagem
Desoxicitidina/efeitos adversos
Desoxicitidina/análogos & derivados
Seres Humanos
Hiperamonemia/induzido quimicamente
Neoplasias Hepáticas/complicações
Neoplasias Hepáticas/patologia
Masculino
Compostos Organoplatínicos/administração & dosagem
Compostos Organoplatínicos/efeitos adversos
Doença da Deficiência de Ornitina Carbomoiltransferase/induzido quimicamente
Doença da Deficiência de Ornitina Carbomoiltransferase/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Organoplatinum Compounds); 04ZR38536J (oxaliplatin); 0W860991D6 (Deoxycytidine); B76N6SBZ8R (gemcitabine)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:170403
[Lr] Data última revisão:
170403
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160316
[St] Status:MEDLINE
[do] DOI:10.1634/theoncologist.2015-0267



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