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Transjugular intrahepatic portosystemic shunt for a patient with chylothorax in cryptogenic/metabolic cirrhosis

Hepatobiliary & Pancreatic Diseases International 2020年第3期19卷 303-304页

作者： Francesco Cocomazzi nicola Maurizio castellaneta Antonino castellaneta Fabio Fucilli Enzo Ierardi Alfredo Di Leo Section of Gastroenterology Department of Emergency and Organ TransplantationUniversity of BariBariItaly Radiology Unit IRCCS De BellisCastellana GrotteBariItaly

To the Editor:Chylothorax is a rare pleural effusion with a milky appearance due to triglycerides and chylomicrons[1];About 1%of cases are associated with liver cirrhosis[2].Incidentally,it has been hypothesized that chylothorax originates from the passage of chylous ascites into pleural cavity owing to diaphragmatic defects and negative thoracic pressure[3].Chylous ascites represents the 1%of ascites in liver cirrhosis(1:20,000 hospitalizations)[4].Pathophysiological mechanism is mediated by increased hepatic and gastrointestinal lymphatic flow due to portal hypertension[5]。

关键词： cirrhosis ascites pleural

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Unexpected me diastinal mass in a liver transplanted patient

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Hepatobiliary & Pancreatic Diseases International 2019年第2期18卷 199-201页

作者： Giuseppe Losurdo Giuseppe Ingravallo Antonio Mongelli nicola Maurizio castellaneta Antonio Pisani Section of Gastroenterology Department of Emergency and Organ Transplantation University "Aldo Moro" Section of Pathology Department of Emergency and Organ Transplantation University "Aldo Moro"

To the Editor:The risk of de novo cancer increases by 2 to 7-fold after liver transplantation[1].The most common de novo cancers are both solid(non-melanoma skin cancers,colorectal carcinoma,genito-urinary and head-neck cancer)[2,3]as well as hematologic malignancies,in particular the so-called post-transplant lymphoproliferative disorder[4].

关键词： mediastinal mass liver transplanted patient post-transplant

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Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature

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World Journal of Hepatology 2020年第2期12卷 64-71页

作者： Mariano Piazzolla nicola castellaneta Antonio Novelli Emanuele Agolini Dario Cocciadiferro Leonardo Resta Loren Duda Michele Barone Enzo Ierardi Alfredo Di Leo Section of Gastroenterology Department of Emergency and Organ TransplantationUniversity of BariBari 70124Italy Laboratory of Medical Genetics Ospedale Pediatrico Bambino GesùRome 00165Italy Section of Pathology Department of Emergency and Organ TransplantationUniversity of BariBari 70124Italy

BACKGROUND Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular ***,we firstly provide the evidence that a nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygous form is involved in BRIC *** SUMMARY A 29-year-old male showed severe jaundice and laboratory tests consistent with intrahepatic cholestasis despite normal *** and chronic liver diseases with viral,metabolic and autoimmune etiology were *** intra/extra-hepatic bile ducts were demonstrated by magnetic *** biopsy showed:Cholestasis in the centrilobular and intermediate zones with bile plugs and intra-hepatocyte pigment,Kupffer’s cell activation/hyperplasia and preserved biliary *** satisfied benign recurrent intrahepatic cholestasis diagnostic criteria,ATP8B1 and ABCB11 gene analysis was ***,we found a novel nonsense variant of ATP8B1 gene(c.1558A>T)in *** variant was confirmed by Sanger sequencing following a standard protocol and tested for familial segregation,showing a maternal *** confirmed a significant reduction of mutated gene related protein(familial intrahepatic cholestasis 1).The patient was treated with ursodeoxycholic acid 15 mg/kg per day and colestyramine 8 g daily with total bilirubin decrease and normalization at the 6th and 12th *** A genetic abnormality,different from those already known,could be involved in familial intrahepatic cholestatic disorders and/or pro-cholestatic genetic predisposition,thus encouraging further mutation detection in this field.

关键词： Benign recurrent intrahepatic cholestasis ATP8B1/ABCB11 genes Jaundice Heterozygous variant of ATP8B1 gene(c.1558A>T) Familial inheritance Case report

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