|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | Partial external biliary diversion in bile salt export pump deficiency: Association between outcome and mutation显示文摘AIM To investigate the relation of two different mutations to the outcome of partial external biliary diversion(PEBD)in severe bile salt export pump(BSEP) deficiency.METHODS Mutations in the gene encoding BSEP leading to severe BSEP deficiency in two unrelated patients were identified by genomic sequencing. Native liver biopsies and transiently transfected human embryonic kidney(HEK) 293 cells expressing either wild-type or mutated BSEP were subjected to immunofluorescence analysis to assess BSEP transporter localization. Bile acid profiles of patient and control bile samples were generated by ultra-performance liquid chromatographytandem mass spectrometry. Wild-type and mutant BSEP transport of [~3H]-labeled taurocholate(TC) and taurochenodeoxycholate(TCDC) was assessed by vesicular transport assays.RESULTS A girl(at 2 mo) presented with pruritus, jaundice and elevated serum bile salts(BS). PEBD stabilized liver function and prevented liver transplantation. She was heterozygous for the BSEP deletion p.T919 del and the nonsense mutation p.R1235 X. At the age of 17 years relative amounts of conjugated BS in her bile were normal, while total BS were less than 3% as compared to controls. An unrelated boy(age 1.5 years) presenting with severe pruritus and elevated serum BS was heterozygous for the same nonsense and another missense mutation, p.G1032 R. PEBD failed to alleviate pruritus, eventually necessitating liver transplantation. BS concentration in bile was about 5% of controls. BS were mainly unconjugated with an unusual low amount of chenodeoxycholate derivatives(< 5%). The patients' native liver biopsies showed canalicular BSEP expression. Both BSEP p.T919 del and p.G1032 R were localized in the plasma membrane in HEK293 cells. In vitro transport assays showed drastic reduction of transport by both mutations. Using purified recombinant BSEP as quantifiable reference, per-molecule transport rates for TC and TCDC were determined to be 3 and 2 BS molecules per wild-type BSEP transporter per minute, respectively.CONCLUSION In summary, our findings suggest that residual function of BSEP as well as substrate specificity influence the therapeutic effectiveness of PEBD in progressive familial intrahepatic cholestasis type 2(PFIC-2). | Philipp Ellinger Jan Stindt Carola Droge Katharina Sattler Claudia Stross Stefanie Kluge Diran Herebian Sander HJ Smits Martin Burdelski Sebastian Schulz-Jürgensen Antje Ballauff Jan Schulte am Esch Ertan Mayatepek Dieter Haussinger Ralf Kubitz Lutz Schmitt | 2017 | World Journal of Gastroenterology2017，23，29： | 4 |
| 2 | Radioembolisation and portal vein embolization before resection of large hepatocellular carcinoma显示文摘Resectability of hepatocellular carcinoma in patients with chronic liver disease is dramatically limited by the need to preserve sufficient remnant liver in order to avoid postoperative liver insufficiency. Preoperative treatments aimed at downsizing the tumor and promoting hypertrophy of the future remnant liver may improve resectability and reduce operative morbidity. Here we report the case of a patient with a large hepatocellular carcinoma arising from chronic liver disease. Preoperative treatment, including tumor downsizing with transarterial radioembolization and induction of future remnant liver hypertrophy with right portal vein embolization, resulted in a 53% reduction in tumor volume and compensatory hypertrophy in the contralateral liver. The patient subsequently underwent extended right hepatectomy with no postoperativesigns of liver decompensation. Pathological examination demonstrated a margin-free resection and major tumor response. This new therapeutic sequence, combining efficient tumor targeting and subsequent portal vein embolization, could improve the feasibility and safety of major liver resection for hepatocellular carcinoma in patients with liver injury. | Fikri Bouazza Arthur Poncelet Camilo Alejandro Garcia Philippe Delatte Jean Luc Engelhom Maria Gomez Galdon Amélie Deleporte Alain Hendlisz Bruno Vanderlinden Patrick Flamen Vincent Donckier | 2015 | World Journal of Gastroenterology2015，21，32： | 2 |
| 3 | SSJD15011600007878显示文摘 | María A. Mejía-Benítez Amélie Bonnefond Lo?c Yengo Marlène Huyvaert Aurélie Dechaume Jesús Peralta-Romero Miguel Klünder-Klünder Jaime García Mena Julia S. El-Sayed Moustafa Mario Falchi Miguel Cruz Philippe Froguel | 2015 | Diabetologia2015，，2： | 2 |
| 4 | Vertebral metastases:assessment with apparent diffusion coefficient显示文摘 | Herneth AM Philipp MO Naude J | 2002 | Radiology2002，225，3： | 1 |
| 5 | Differential roles of inferior frontal and inferior parietal cortex in task switching: evidence from stimulus-categorization switching and response-modality switching 显示文摘 | Philipp AM Weidner R Koch I | 2013 | Hum Brain Mapp2013，34，8： | 1 |
| 6 | Ultrastructural and quantitative analysis of the lipid droplet clustering induced by hepatitis C virus core protein显示文摘 | Marion Depla Rustem Uzbekov Christophe Hourioux Emmanuelle Blanchard Amélie Gouge Ludovic Gillet Philippe Roingeard | 2010 | Cellular and Molecular Life Sciences2010，，18： | 1 |
| 7 | Simplified assessment of segmental colonic transit 显示文摘 | Metcalf AM Philipps SF Zinsmeister | 1987 | Gastroenterology1987，92，： | 1 |
| 8 | Impact of emerging hepatitis C virus treatments on future needs for liver transplantation in France: A modelling approach显示文摘 | Sylvie Deuffic-Burban Philippe Mathurin Isabelle Rosa Anne-Marie Bouvier Amélie Cannesson Abbas Mourad Valérie Canva Alexandre Louvet Pierre Deltenre Emmanuel Boleslawski Stéphanie Truant Fran?ois-René Pruvot Sébastien Dharancy | 2014 | Digestive and Liver Disease2014，，2： | 1 |
| 9 | Vertebral metastases:assessment with apparent diffusion coefficient显示文摘 | Herneth AM Philipp MO Naude J | 2002 | Radiology2002，225，： | 1 |
| 10 | Vertebral metastases: assessment with apparent diffusion coefficient 显示文摘 | Herneth AM Philipp MO Naude J | 2002 | Radiology2002，225，3： | 1 |
| 11 | The value of diffusion-weighted MRT in assessing the bone marrow changes in vertebral metastates显示文摘 | Naude J Philipp M | 2000 | Radiologe2000，40，8： | 1 |
| 12 | Vertebral metastases: assessment with apparent diffusion coefficient 显示文摘 | Herneth AM Philipp MO Naude J | 2002 | Radiology2002，225，3： | 1 |
| 13 | Neoplasien des knochenmarks: Wertigkeit der diffusions gewichteten MRI in der Beurteilung yon Knochenmarkveranderungen bei Wirbelkarper- metastasen Value of diffusion-weighted magnetic resonance imaging in the assessment of bone marrow in vertebral metastases显示文摘 | Hemeth AM Naude J Philipp M | 2000 | Der Radiologe2000，40，8： | 1 |
| 14 | Vertebral metastases assessment with apparent diffusion coefficient 显示文摘 | Herneth AM Philipp MO Naude J | 2002 | Radiology2002，225，3： | 1 |
| 15 | Vertebral metas-tases:assessment with apparent diffusion coefficient显示文摘 | Herneth AM Philipp MO Naude J | 2002 | Radiology2002，225，3： | 1 |
| 16 | Vertebral metasta- ses:assessment with apparent diffusion coefficient显示文摘 | Herneth AM Philipp MO Naude J | 2002 | Radiolo gy2002，225，： | 1 |
| 17 | Alpha-enolase: A target of antibodies in infectious and autoimmune diseases显示文摘 | Benjamin Terrier Nicolas Degand Philippe Guilpain Amélie Servettaz Lo?c Guillevin Luc Mouthon | 2006 | Autoimmunity Reviews2006，，3： | 1 |
| 18 | Vertebral metastases:assessment with apparent diffusion coefficient显示文摘 | Herneth AM Philipp MO Naude J | | 0，，03： | 1 |
| 19 | Vertebral Metastases: Assessment with Apparent Diffusion Coefficient显示文摘 | Herneth AM Philipp MO Naude J | 2002 | Radiology2002，225，3： | 1 |
| 20 | Asymmetric closure of ischiopubic synchondrosis in pediatric patients:Correlation with foot dominance显示文摘 | Herneth AM Philipp MO Pretterklieber ML | | 0，，： | 1 |
您所在的机构暂未开通此部分的功能，请联系管理员