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Laura Ducimetire Giulia Lucchiari Gioana Litscher Marc Nater Laura Heeb Nicols Gonzalo Nuez Laura Wyss Dominik Burri Marijne Vermeer Julia Gschwend Andreas E. Moor Burkhard Becher Maries van den Broek Sonia Tugues 《Proceedings of the National Academy of Sciences of the United States of America》2021,118(27)
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Marcello Candelli Enrico C. Nista Giulia Pignataro Giovanni Gasbarrini Antonio Gasbarrini 《Scandinavian journal of gastroenterology》2013,48(5):569-570
Abstract Objective. As a minimally invasive modality, radiofrequency ablation (RFA) has been increasingly applied not only for the treatment of hepatocellular carcinoma, but also for that of colorectal liver metastasis (CLM). However, RFA for CLM has been shown to be associated with a high local recurrence rate, and no optimal treatment for RFA failure has been established yet. The aim of this study was to evaluate the feasibility and outcome of surgical resection for local recurrence after RFA. Material and methods. A retrospective study of 17 patients, who underwent surgery for local recurrence after RFA for resectable CLM, was carried out. The surgical procedures involved in the actual surgery were compared with those envisioned for the primary resection if RFA had not been selected. Results. Surgical resection for RFA recurrence was more invasive than the envisioned surgical procedure in 10 cases (58%). In addition, the proportions of cases that required technically demanding procedures among the patients receiving surgery for RFA recurrence were higher than those in envisioned operations; major hepatectomy, eight cases [47%] versus two cases [12%] (p < 0.0205); excision and/or reconstruction of the major hepatic veins, three cases [18%] versus zero case [0%] (p = 0.035); excision of diaphragm: three cases [18%] versus zero case [0%] (p = 0.035). The 1-, 3- and 5-year overall survival rates were 92%, 45% and 45%, respectively. Conclusions. Surgical resection for RFA recurrence for CLM required more invasive and technically demanding procedures. Thus, RFA for CLM should be limited to unresectable cases, and patients with resectable CLM should be thoroughly advised not to undergo RFA, but rather surgical resection. 相似文献
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Stefania Gioia Silvia Nardelli Lorenzo Ridola Giulia d’Amati Oliviero Riggio 《World journal of hepatology》2019,11(8):613-618
Porto sinusoidal vascular liver disease(PSVD) and portal vein thrombosis(PVT)are distinct vascular liver diseases characterized, respectively, by an intrahepatic and a prehepatic obstacle to the flow in the liver portal system. PVT may also occur as a complication of the natural history of PSVD, especially if a prothrombotic condition coexists. In other cases, it is associated to local and systemic pro-thrombotic conditions, even if its cause remains unknown in up to25% despite an active search. In our opinion, the presence of PSVD should be suspected in patients with PVT especially in those with PVT "sine causa" and the active search of this condition should be included in their diagnostic work-out.However, sometimes the diagnosis of pre-existing PSVD is very hard. Biopsy cannot be fully discriminant as similar histological data have been described in both conditions. Liver stiffness may help as it has been shown to be higher in PSVD than in "pure" PVT, due to the presence of sclerosis in the portal venous radicles observable in PSVD patients. Nevertheless, comparing liver stiffness between PVT and PSVD has until now been restricted to very limited series of patients. In conclusion, even if it is still totally hypothetical, our point of view may have clinical consequences, especially when deciding to perform a liver biopsy in patients with a higher liver stiffness and suspending the anticoagulation in patients with PVT and no detectable prothrombotic factors. 相似文献
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Candida albicans yeast and germ tube forms interfere differently with human monocyte differentiation into dendritic cells: a novel dimorphism-dependent mechanism to escape the host's immune response 下载免费PDF全文
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Arbustini E Grasso M Ansaldi S Malattia C Pilotto A Porcu E Disabella E Marziliano N Pisani A Lanzarini L Mannarino S Larizza D Mosconi M Antoniazzi E Zoia MC Meloni G Magrassi L Brega A Bedeschi MF Torrente I Mari F Tavazzi L 《Human mutation》2005,26(5):494
Marfan Syndrome (MFS) is an autosomal dominant disorder of the connective tissue due to mutations of Fibrillin-1 gene (FBN1) in more than 90% of cases and Transforming Growth Factor-Beta-Receptor2 gene (TGFB2R) in a minority of cases. Genotyping is relevant for diagnosis and genotype-phenotype correlations. We describe the FBN1 genotypes and related phenotypes of 81 patients who were referred to our attention for MFS or Marfan-like phenotypes. Patients underwent multidisciplinary pertinent evaluation in the adult or paediatric setting, according to their age. The diagnosis relied on Ghent criteria. To optimise DHPLC analysis of the FBN1 gene, all coding regions of the gene were directly sequenced in 19 cases and 10 controls: heterozygous amplicons were used as true positives. DHPLC sensitivity was 100%. Then, DHPLC was used to screen 62 other cases. We identified 74 FBN1 mutations in 81 patients: 64 were novel and 17 known. Of the 81 mutations, 41 were missense (50.6%), 27, either nonsense or frameshift mutations and predicted a premature termination codon (PTC) (33%), 11 affected splice sites (13.6%), and two predicted in-frame deletions (2.5%). Most mutations (67.9%) occurred in cbEGF-like modules. Genotype was clinically relevant for early diagnosis and conclusion of the diagnostic work-up in patients with incomplete or atypical phenotypes. 相似文献
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Mosaicism of a novel variant in the ANKRD11 gene in a child with a mild KBG phenotype: A case report