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Partial external biliary diversion in bile salt export pump deficiency: Association between outcome and mutation

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World Journal of Gastroenterology 2017年第29期23卷 5295-5303页

作者： 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 In-stitute of Biochemistry Hein-rich-Hein-e-Un-iversity Düsseldorf Medical Faculty Departmen-t of Gastroen-terology Hepatology an-d In-fectious Diseases Hein-rich-Hein-e-Un-iversity Düsseldorf Departmen-t of Gen-eral Pediatrics Neon-atology an-d Pediatric Cardiology Medical Faculty Hein-rich-Hein-e-Un-iversity Düsseldorf Departmen-t of Paediatrics Un-iversity Hospital Schleswig Holstein- Departmen-t of Paediatrics Helios Clin-ic Departmen-t of Gen-eral Surgery Hein-rich-Hein-e-Un-iversity

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. METHODSMutations 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 chromatography-tandem mass spectrometry. Wild-type and mutant BSEP transport of [3H]-labeled taurocholate (TC) and taurochenodeoxycholate (TCDC) was assessed by vesicular transport assays. RESULTSA 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.T919del and the nonsense mutation p.R1235X. 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.G1032R. 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.T919del and p.G1032R 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 molecu

关键词： Familial intrahepatic cholestasis type 2 Partial external biliary diversion Bile salt export pump ATP binding cassette transporter Intrahepatic cholestasis

Extrahepatic intraductal ectopic hepatocellular carcinoma:bile duct filling defect

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Hepatobiliary & Pancreatic Diseases International 2009年第6期8卷 650-652页

作者： Moritz Schmelzle Hanno Matthaei Nadja Lehwald Andreas Raffel Roy Y.Tustas Natalia Pomjanski Petra Reinecke Marcus Schmitt jan schulte am esch Wolfram T.Knoefel Claus F.Eisenberger Department of General Visceral and Pediatric Surgery Heinrich-Heine-University Düsseldorf Institute of Cytopathology Heinrich-Heine-University Düsseldorf Institute of Pathology Heinrich-Heine-University Düsseldorf Department of Gastroenterology Hepatology and Infectious Diseases Heinrich-Heine-University Düsseldorf

BACKGROUND:Obstructive jaundice caused by an intraductal hepatocellular carcinoma is a rare initial *** report a rare case of an extrahepatic icteric type hepatocellular ***:A 75-year-old patient was admitted to our hospital because of obstructive jaundice 3 months after resection of multilocular hepatocellular carcinoma.A postoperative bile leakage was treated by placement of a decompressing stent in the common bile *** retrograde choledochoscopy showed extended blood clots filling the bile duct system and computed tomography revealed a local swelling in the common extrahepatic bile *** level of alpha-fetoprotein(AFP)was only slightly elevated but that of CA19-9 was dramatically *** showed an intraductal filling defect typical of a cholangiocellular ***:Bile duct brushing cytology showed no cholangiocellular carcinoma but hepatocellular carcinoma cells in the extrahepatic bile *** extrahepatic bile duct resection was *** examination confirmed the diagnosis of extrahepatic intraductal growth of hepatocellular ***:Ectopic hepatocellular carcinoma is a rare but important differentially diagnosed of extrahepatic bile duct filling defect.

关键词： hepatocellular carcinoma cholangiocellular carcinoma bile duct obstructive jaundice

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INSTABILITY OF HEXAGONAL CRYSTALS IN LIPID MONOLAYERS

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南京大学学报(自然科学) 1996年第3期 530-531页

作者： Sun Cheng Wang Mu jan Van esch Ming Naiben Pier Bennema Helmut Ringsdrot R. J. M. Nolte(National laboratory of Solid State Microstructures, nanjing University, 210093, Nanjing, PRC& Center for Advanced Studies of Science and technology of Microstructures

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ＩＮＳＴＡＢＩＬＩＴＹＯＦＨＥＸＡＧＯＮＡＬＣＲＹＳＴＡＬＳＩＮＬＩＰＩＤＭＯＮＯＬＡＹＥＲＳ￥ＳｕｎＣｈｅｎｇ；ＷａｎｇＭｕ；ＪａｎＶａｎＥｓｃｈ；ＭｉｎｇＮａｉｂｅｎ；ＰｉｅｒＢｅｎｎｅｍａ；ＨｅｌｍｕｔＲｉｎｇｓｄｒｏｔ；Ｒ．Ｊ．Ｍ．Ｎｏｌｔｅ...

关键词： instability two-dimensional crystal growth

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临港新城——中国航海博物馆意象与隐喻

城市环境设计 2013年第7期 106-115页

作者：曼哈德·冯·格康 Hans Georg esch jan Siefke Marcus Bredt

航海博物馆的单体建筑使用统一的形式和材质语言构筑了一个均质匀称的整体。柱廊和空梁是微妙的造型元素,配合光和影的错综变幻,加上水面和绿地,将建筑群系结为一个整体。两座高 58m 的交叠轻质屋面壳体表现了关于航海的隐喻,使人联想... 详细信息

航海博物馆的单体建筑使用统一的形式和材质语言构筑了一个均质匀称的整体。柱廊和空梁是微妙的造型元素,配合光和影的错综变幻,加上水面和绿地,将建筑群系结为一个整体。两座高 58m 的交叠轻质屋面壳体表现了关于航海的隐喻,使人联想起风帆,两面风帆交于地面以上40m 处的一点,而每面风帆在地面上仅各有两个

关键词：临港新城风帆

No association between Parkinson disease and autoantibodies against NMDA-type glutamate receptors

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Translational Neurodegeneration 2019年第1期8卷 127-133页

作者： Franziska Hopfner Stefanie HMüller Dagmar Steppat Joanna Miller Nele Schmidt Klaus-Peter Wandinger Frank Leypoldt Daniela Berg Andre Franke Wolfgang Lieb Lukas Tittmann Monika Balzer-Geldsetzer Simon Baudrexel Richard Dodel Ruediger Hilker-Roggendorf Elke Kalbe jan Kassubek Thomas Klockgether Inga Liepelt-Scarfone Brit Mollenhauer Petra Neuser Kathrin Reetz Oliver Riedel Claudia schulte Jörg BSchulz Annika Spottke Alexander Storch Claudia Trenkwalder Hans-Ulrich Wittchen Karsten Witt Ullrich Wüllner Günther Deuschl Gregor Kuhlenbäumer Department of Neurology University Hospital Schleswig HolsteinArnold-Heller Str.324105 KielGermany Center of Blood Transfusion University Hospital Schleswig HolsteinKiel&LübeckGermany Department of Clinical Chemistry University Hospital Schleswig-HolsteinKielGermany Institute of Clinical Molecular Biology University Hospital Schleswig-HolsteinKielGermany Institute of Epidemiology University Hospital Schleswig-HolsteinKielGermany Chair of Geriatric Medicine University Hospital EssenEssenGermany Department of Neurology Philipps-University MarburgMarburgGermany Department of Neurology Goethe UniversityFrankfurt/MainGermany Brain Imaging Center Goethe UniversityFrankfurt/MainGermany Department of Medical Psychology|Neuropsychology and Gender Studies&Center for Neuropsychological Diagnostics and Intervention(CeNDI) University Hospital CologneCologneGermany Psychological Gerontology Institute of GerontologyUniversity of VechtaVechtaGermany Department of Neurology University of UlmUlmGermany Department of Neurology University of Bonnand German Center for Neurodegenerative Diseases(DZNE)BonnGermany Center for Neurology Hertie Institute for Clinical Brain ResearchDepartment of Neurodegenerative DiseasesUniversity of TübingenTübingenGermany DZNE German Center for Neurodegenerative DiseasesTübingenGermany Paracelsus-Elena-Klinik KasselGermany Institute of Neuropathology and Department of Neurosurgery University Medical Center GöttingenGöttingenGermany Coordinating Centre for Clinical Trials Philipps-UniversityMarburgGermany Department of Neurology RWTH Aachen UniversityAachenGermany JARA-BRAIN Institute of Molecular Neuroscience and Neuroimaging Forschungszentrum Jülich GmbH and RWTH Aachen UniversityAachenGermany Leibniz Institute for Prevention Research and Epidemiology-BIPS Achterstrasse 3028359 BremenGermany Department of Neurology Technische Universität Dresden01307 DresdenGermany German Center for Neurodegenerative Diseases(DZNE) Research Site Rostock18147 RostockGerma

Background:IgG-class autoantibodies to N-Methyl-D-Aspartate(NMDA)-type glutamate receptors define a novel entity of autoimmune *** examining the prevalence of NMDA IgA/IgM antibodies in patients with Parkinson disease with/without dementia produced conflicting *** measured NMDA antibodies in a large,well phenotyped sample of Parkinson patients without and with cognitive impairment(n=296)and controls(n=295)free of neuropsychiatric *** phenotyping and large numbers allowed statistically meaningful correlation of antibody status with diagnostic subgroups as well as quantitative indicators of disease severity and cognitive ***:NMDA antibodies were analysed in the serum of patients and controls using well established validated *** used anti-NMDA antibody positivity as the main independent variable and correlated it with disease status and phenotypic ***:The frequency of NMDA IgA/IgM antibodies was lower in Parkinson patients(13%)than in controls(22%)and higher than in previous studies in both *** IgA/IgM antibodies were neither significantly associated with diagnostic subclasses of Parkinson disease according to cognitive impairment,nor with quantitative indicators of disease severity and cognitive impairment.A positive NMDA antibody status was positively correlated with age in controls but not in Parkinson ***:It is unlikely albeit not impossible that NMDA antibodies play a significant role in the pathogenesis or progression of Parkinson disease *** Parkinson disease with dementia,while NMDA IgG antibodies define a separate disease of its own.

关键词： NMDA antibody NMDA IgA/IgM antibodies Parkinson disease Cognitive impairment