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您的检索式：作者名="Loren Duda"
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| 1 | Doege-Potter syndrome by malignant solitary fibrous tumor of the liver: A case report and review of literature显示文摘BACKGROUND Solitary fibrous tumor of the liver (SFTL) is a rare occurrence with a low number of cases reported in literature. SFTL is usually benign but, 10%-20% cases are reported to be malignant with a tendency to metastasize. The majority of malignant SFTL cases are associated with a paraneoplastic hypoglycaemia defined as Doege-Potter syndrome. Surgery is the best therapeutic treatment, however, long- life follow-up is recommended. CASE SUMMARY A 74-year-old man, was admitted to the emergency department after a syncopal episode with detection of hypoglycaemia resistant to medical treatment. The computed tomography revealed a solid mass measuring 15 cm of the left liver. An open left hepatectomy was performed with complete resection of tumor. Histopathological analyses confirmed a malignant SFTL. CONCLUSION Large series with long-term follow-up have not been published neither have clinical trials been undertaken. Consequently, the methodical long-term followup of surgically treated SFTLs is strongly recommended. | Delvecchio Antonella Duda Loren Conticchio Maria Fiore Felicia Lafranceschina Stefano Riccelli Umberto Cristofano Antonella Pascazio Bianca Colagrande Anna Resta Leonardo Memeo Riccardo | 2019 | World Journal of Gastrointestinal Surgery2019，11，8： | 5 |
| 2 | Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature显示文摘BACKGROUND Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular transporters.Herein,we firstly provide the evidence that a nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygous form is involved in BRIC pathogenesis.CASE SUMMARY A 29-year-old male showed severe jaundice and laboratory tests consistent with intrahepatic cholestasis despite normal gamma-glutamyltranspeptidase.Acute and chronic liver diseases with viral,metabolic and autoimmune etiology were excluded.Normal intra/extra-hepatic bile ducts were demonstrated by magnetic resonance.Liver biopsy showed:Cholestasis in the centrilobular and intermediate zones with bile plugs and intra-hepatocyte pigment,Kupffer’s cell activation/hyperplasia and preserved biliary ducts.Being satisfied benign recurrent intrahepatic cholestasis diagnostic criteria,ATP8B1 and ABCB11 gene analysis was performed.Surprisingly,we found a novel nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygosis.The variant was confirmed by Sanger sequencing following a standard protocol and tested for familial segregation,showing a maternal inheritance.Immunohistochemistry 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 mo.CONCLUSION 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. | Mariano Piazzolla Nicola Castellaneta Antonio Novelli Emanuele Agolini Dario Cocciadiferro Leonardo Resta Loren Duda Michele Barone Enzo Ierardi Alfredo Di Leo | 2020 | World Journal of Hepatology2020，12，2： | 3 |
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