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Genes & Diseases 2024年第3期11卷 116-119页

作者： Sofan Al wardat Loredana Frasinlli Elisa Orecchini Federica Rey Silvia Anna Ciafre Silvia Galardi Jessica Garau Stella Gagliardi Simona Orcesi Davide Tonduti Stephana Carelli Cristina Cereda ernesto picardi Alessandro Michienzi Department of Biomedicine and Prevention University of Rome Tor VergataRome 00133Italy Pediatric Clinical Research Center"Romeo ed Enrica Invernizzi" Department of Biomedical and Clinical SciencesUniversity of MilanoMilano 20157Italy Center of Functional Genomics and Rare Diseases Department of PediatricsBuzzi Children's HospitalMilano20154Italy Department of Child Neurology and Psychiatry IRccs Mondino FoundationPavia 27100Italy Unit of Pediatric Neurology C.O.A.L.A(Center for Diagnosis and Treatment of Leukodystrophies)Buzzi Children's HospitalMilano 20154Italy Department of Biosciences Biotechnologies and EnvironmentUniversityof Bari"AldoMoro"Bari 70125Italy Institute of Biomembranes Bioenergetics and Molecular Biotechnologies(IBIOM)National Research Council(CNR)Bari 70126Italy Biostructures and Biosystems National Institute(INBB) Rome00136Italy Institute of Biochemistry and Cell Biology IBBC-CNRCampus Adriano Buzzati TraversoRome 00015Italy

Aicardi-Goutieres syndrome(AGS)is a systemic inflammatory disorder caused by mutations in any one of the nine different genes,whose deficiency provokes a type I(interferon)IFN response probably central to pathogenesis.^(1) ADAR1,one of the genes mutated in AGS(AGS6),encodes for an enzyme that belongs to the ADAR family(ADAR1,ADAR2,and ADAR3)that catalyzes the conversion of adenosine to inosine within double-stranded RNAs(dsRNAs)(RNA editing A-to-1).

关键词： ADAR1 interferon res

Solid pseudopapillary tumor of the pancreas:A systematic review of clinical,surgical and oncological characteristics of 1384 patients underwent pancreatic surgery

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Hepatobiliary & Pancreatic Diseases International 2024年第4期23卷 331-338页

作者： Gennaro Mazzarella Edoardo Maria Muttillo Diego Coletta Biagio picardi Stefano Rossi Simone Rossi Del Monte Vito Gomes Irnerio Angelo Muttillo Division of General and Emergency Surgery San Filippo Neri Hospital00136 RomeItaly Department of Surgery“Pietro Valdoni” Sapienza University of RomeViale del Policlinico 15500161 RomeItaly Surgical and Medical Department of Translational Medicine Sant’Andrea HospitalSapienza University of Rome00185 RomeItaly Department of Surgical Sciences Umberto I University HospitalSapienza University of Rome00136 RomeItaly Department of General Surgery Ospedali Riuniti Marche Nord61121 PesaroItaly Department of Pathology San Filippo Neri Hospital00136 RomeItaly

Background:Pancreatic solid pseudopapillary tumors(SPTs)are rare clinical entity,with low malignancy and still unclear *** account for less than 2%of exocrine pancreatic *** study aimed to perform a systematic review of the main clinical,surgical and oncological characteristics of pancreatic *** sources:MEDLINE/PubMed,Web of Science and Scopus databases were systematically searched for the main clinical,surgical and oncological characteristics of pancreatic SPTs up to April 2021,in accordance with the preferred reporting items for systematic reviews and meta-analyses(PRISMA)*** endpoints were to analyze treatments and oncological ***:A total of 823 studies were recorded,86 studies underwent full-text reviews and 28 met inclusion ***,1384 patients underwent pancreatic *** age was 30 years and 1181 patients(85.3%)were *** most common clinical presentation was non-specific abdominal pain(52.6%of cases).Mean overall survival was 98.1%.Mean recurrence rate was 2.8%.Mean follow-up was 4.2 ***:Pancreatic SPTs are rare,and predominantly affect young women with unclear *** resection is the gold standard of treatment achieving good oncological impact and a favorable prognosis in a yearly life-long follow-up.

关键词： Frantz’s tumor Pancreas Pancreatic neoplasms Pancreatic surgery Solid pseudopapillary tumor

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深海环境海洋生态系统监测与修复新技术

Engineering 2024年第3期34卷 195-211页

作者： Jacopo Aguzzi Laurenz Thomsen Sascha Flögel Nathan J.Robinson Giacomo picardi Damianos Chatzievangelou Nixon Bahamon Sergio Stefanni Jordi Grinyó Emanuela Fanelli Cinzia Corinaldesi Joaquin Del Rio Fernandez Marcello Calisti Furu Mienis Elias Chatzidouros Corrado Costa Simona Violino Michael Tangherlini Roberto Danovaro Instituto de Ciencias del Mar(ICM-CSIC) Barcelona 08003Spain Stazione Zoologica Anton Dohrn Naples 80121Italy University of Gothenburg Göteborg 40530Sweden GEOMAR Helmholtz Centre for Ocean Research Kiel 24148Germany Fundación Oceanogràfic de la Comunitat Valenciana Valencia 46013Spain Royal Netherlands Institute for Sea Research(NIOZ) Den Burg Texel 1790 ABNetherlands Polytechnic University of Marche(UNIVPM) Ancona 60131Italy SARTI-MAR of the Universitat Politecnica de Catalunya(UPC) Vilanova i la Geltrú08800Spain Lincoln Institute for Agri-food Technology University of LincolnLincoln LN22LGUK Engitec Systems International Limited Limassol 3083Cyprus Consiglio per la Ricerca in Agricoltura e L’analisi Dell’economia Agraria(CREA) Centro di Ricerca Ingegneria e Trasformazioni AgroalimentariMonterotondo 00015Italy

The United Nations(UN)’s call for a decade of“ecosystem restoration”was prompted by the need to address the extensive impact of anthropogenic activities on natural *** ecosystem restoration is increasingly necessary due to increasing habitat degredation in deep waters(>200 m depth).At these depths,which are far beyond those accessible by divers,only established and emerging robotic platforms such as remotely operated vehicles(ROVs),autonomous underwater vehicles(AUVs),landers,and crawlers can operate through manipulators and multiparametric sensor arrays(e.g.,optoacoustic imaging,omics,and environmental probes).The use of advanced technologies for deep-sea ecosystem restoration can provide:①high-resolution three-dimensional(3D)imaging and acoustic mapping of substrates and key taxa,②physical manipulation of substrates and key taxa,③real-time supervision of remote operations and long-term ecological monitoring,and④the potential to work ***,we describe how robotic platforms with in situ manipulation capabilities and payloads of innovative sensors could autonomously conduct active restoration and monitoring across large spatial *** expect that these devices will be particularly useful in deep-sea habitats,such as①reef-building cold-water corals,②soft-bottom bamboo corals,and③soft-bottom fishery resources that have already been damaged by offshore industries(i.e.,fishing and oil/gas).

关键词： Ecosystem restoration Robotic manipulation Acoustic tracking Fishery resources Artificial reefs

Thrombocytopenia in chronic liver disease:Physiopathology and new therapeutic strategies before invasive procedures

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World Journal of Gastroenterology 2022年第30期28卷 4061-4074页

作者： Paolo Gallo Francesca Terracciani Giulia Di Pasquale Matteo Esposito Antonio picardi Umberto Vespasiani-Gentilucci Clinical Medicine and Hepatology Unit Campus Bio-Medico UniversityRoma 00128Italy

Chronic liver disease is characterized by several hematological derangements resulting in a complex and barely rebalanced haemostatic *** is the most common abnormality observed in these patients and recent advances have led to researchers focus the attention on the multifactorial origin of thrombocytopenia and on the key role of thrombopoietin(TPO)in its *** thrombocytopenia(platelet count<50000/μL)complicates the management of patients with chronic liver disease by increasing the potential risk of bleeding for invasive procedures,which may be therefore delayed or canceled even if *** the very last years,the development of new drugs which exceed the limits of the current standard of care(platelet transfusions,either immediately before or during the procedure)paves the way to a new scenario in the management of this population of *** agents,such as the TPOreceptor agonists avatrombopag and lusutrombopag,have been developed in order to increase platelet production as an alternative to platelet *** agents have demonstrated a good profile in terms of efficacy and safety and will hopefully allow reducing limitations and risks associated with platelet transfusion,without any delay in scheduled ***,it is expected that patients with chronic liver disease will be able to face invasive procedures with one more string in their bow.

关键词： Thrombocytopenia Chronic liver disease Thrombopoietin agonists Platelet transfusions Avatrombopag Lusutrombopag

Exhaled breath analysis in hepatology: State-of-the-art and perspectives

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World Journal of Gastroenterology 2019年第30期25卷 4043-4050页

作者： Antonio De Vincentis Umberto Vespasiani-Gentilucci Anna Sabatini Raffaele Antonelli-Incalzi Antonio picardi Unit of Clinical Medicine and Hepatology Unit of GeriatricsDepartment of MedicineCampus Bio-Medico University HospitalRome 00128Italy Unit of Electronics for sensor systems Department of EngineeringUniversity Campus Bio-Medico of RomeRome 00128Italy

Liver disease is characterized by breath exhalation of peculiar volatile organic compounds(VOCs).Thanks to the availability of sensitive technologies for breath analysis,this empiric approach has recently gained increasing attention in the context of hepatology,following the good results obtained in other fields of *** the first studies that led to the identification of selected VOCs for pathophysiological purposes,subsequent research has progressively turned towards the comprehensive assessment of exhaled breath for potential clinical *** VOC patterns were found to discriminate subjects with liver cirrhosis,to rate disease severity,and,eventually,to forecast adverse clinical outcomes even beyond existing *** results suggest that breath analysis could be useful also for detecting and staging hepatic encephalopathy and for predicting steatohepatitis in patients with nonalcoholic fatty liver ***,clinical translation is still hampered by a number of methodological limitations,including the lack of standardization and the consequent poor comparability between studies and the absence of external validation of obtained *** the low-cost and easy execution at bedside of the new technologies(e-nose),larger and well-structured studies are expected in order to provide the adequate level of evidence to support VOC analysis in clinical practice.

关键词： Exhaled breath analysis Electronic nose Gas chromatography Breath print Liver cirrhosis Nonalcoholic fatty liver disease Hepatic encephalopathy

Promoting genetics in non-alcoholic fatty liver disease: Combined risk score through polymorphisms and clinical variables

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World Journal of Gastroenterology 2018年第43期24卷 4835-4845页

作者： Umberto Vespasiani-Gentilucci Paolo Gallo Chiara Dell' Unto Mara Volpentesta Raffaele Antonelli-Incalzi Antonio picardi Unit of Internal Medicine and Hepatology Department of Medicine University Campus Bio-Medico

Non-alcoholic fatty liver disease(NAFLD) has a prevalence of approximately 30% in western countries, and is emerging as the first cause of liver cirrhosis and hepatocellular carcinoma(HCC). Therefore, risk stratification emerges as fundamental in order to optimize human and economic resources, and genetics displays intrinsic characteristics suitable to fulfill this task. According to the available data, heritability estimates for hepatic fat content range from 20% to 70%, and an almost 80% of shared heritability has been found between hepatic fat content and fibrosis. The rs738409 single nucleotide polymorphism(SNP) in patatin-like phospholipase domain-containing protein 3 gene and the rs58542926 SNP in transmembrane 6 superfamily member 2 gene have been robustly associated with NAFLD and with its progression, but promising results have been obtained with many other SNPs. Moreover, there has been proof of the additive role of the different SNPs in determining liver damage, and there have been preliminary experiences in which risk scores created through a few genetic variants, alone or in combination with clinical variables, were associated with a strongly potentiated risk of NAFLD, non-alcoholic steatohepatitis(NASH), NASH fibrosis or NAFLD-HCC. However, to date, clinical translation of genetics in the field of NAFLD has been poor or absent. Fortunately, the research we have done seems to have placed us on the right path: We should rely on longitudinal rather than on cross-sectional studies; we should focus on relevant outcomes rather than on simple liver fat accumulation; and we should put together the genetic and clinical information. The hope is that combined genetic/clinical scores, derived from longitudinal studies and built on a few strong genetic variants and relevant clinical variables, will reach a significant predictive power, such as to have clinical utility for risk stratification at the single patient level and even to esteem the impact of intervention

关键词：肝疾病遗传性多型性临床风险脂肪酒精 patatin

Non-cirrhotic portal hypertension with large regenerative nodules: A diagnostic challenge

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World Journal of Gastroenterology 2011年第20期17卷 2580-2584页

作者： Umberto Vespasiani Gentilucci Paolo Gallo Giuseppe Perrone Riccardo Del Vescovo Giovanni Galati Sandro Spataro Chiara Mazzarelli Adriano Pellicelli Antonella Afeltra Antonio picardi Clinical Medicine and Hepatology Unit University Campus Bio-Medico of Rome Clinical Pathology University Campus Bio-Medico of Rome Department of Radiology University Campus Bio-Medico of Rome Hepatology Unit San Camillo-Forlanini Hospital

Non-cirrhotic portal hypertension is a poorly understood condition characterized by portal hypertension in the absence of conventional hepatic cirrhosis and described in association with blood coagulation disorders, myeloproliferative and immunological diseases and with exposure to toxic drugs. Very recently, precise classification criteria have been proposed in order to define four distinct subcategories. The present case highlights how the clinical presentation, the confounding results from imaging studies, and the difficulties in the histological evaluation often render cases of non-cirrhotic portal hypertension a real diagnostic challenge. It also underscores the classification problems which can be faced once this diagnosis is performed. Indeed, the different subcategories proposed result from the prevalent subtypes in a spectrum of hepatic regenerative responses to a variety of injuries determining microcirculatory dis-turbances. More flexibility in classification should derive from this etiopathogenic background.

关键词：肝硬化肝再生高压诊断结节分类标准免疫性疾病微循环障碍

Proton pump inhibitor prescription abuse and sepsis in cirrhosis

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World Journal of Gastrointestinal Pharmacology and Therapeutics 2016年第1期7卷 1-4页

作者： Antonio picardi Umberto Vespasiani-Gentilucci Internal Medicine and Hepatology Unit University Campus Bio-Medico

Proton pump inhibitors(PPIs) represent one of the most extensively prescribed classes of drugs in general and in patients with liver cirrhosis. Many prescriptions are made without a clear adherence to standard indications. As a class of ordinarily well tolerated drug, PPIs are not free of side-effects and concerns have been raised about a possible role for PPIs in predisposing patients to an increased risk of bacterial infections and sepsis. As evidences of different power are accumulating on this topic, prospective studies are needed to reach a more universal agreement, but definitely more attention is needed by prescribers in being more adherent to the few recognized indications for the use of PPIs, particularly in patients with liver cirrhosis. Otherwise, doctors could run the risk of being accused of "abused" prescription.

关键词： Proton pump inhibitors Liver cirrhosis Bacterial infection Sepsis

Hepatitis C and double-hit B cell lymphoma successfully treated by antiviral therapy

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World Journal of Hepatology 2016年第29期8卷 1244-1250页

作者： Giovanni Galati Lorenzo Rampa Umberto Vespasiani-Gentilucci Mirella Marino Francesco Pisani Carlo Cota Alessandro Guidi Antonio picardi Unit of Internal Medicine and Hepatology Department of Medicine Università Campus Bio-Medico di Roma Department of Pathology Regina Elena National Cancer Institute Hematology and Stem Cell Transplant Unit Regina Elena National Cancer Institute Dermopahology Unit San Gallicano Dermatological Institute IRCCS

B cells lymphoma is one of the most challenging extrahepatic manifestations of hepatitis C virus(HCV). Recently, a new kind of B-cell lymphoma, named doublehit B(DHL), was characterized with an aggressive clinical course whereas a potential association with HCV was not investigated. The new antiviral direct agents(DAAs) against HCV are effective and curative in the majority of HCV infections. We report the first case, to our knowledge, of DHL and HCV-infection successfully treated by new DAAs. According to our experience, a DHL must be suspected in case of HCV-related lymphoma, and an early diagnosis could direct towards a different hematological management because a worse prognosis might be expected. A possible effect of DAAs on DHL regression should be investigated, but eradicating HCV would avoid life-threatening reactivation of viral hepatitis during pharmacological immunosuppression in oncohaematological diseases.

关键词：丙肝淋巴瘤指导抗病毒的代理人加倍点击淋巴瘤长期的丙肝

Hepatitis C virus and metabolic disorder interactions towards liver damage and atherosclerosis

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World Journal of Gastroenterology 2014年第11期20卷 2825-2838页

作者： Umberto Vespasiani-Gentilucci Paolo Gallo Antonio De Vincentis Giovanni Galati Antonio picardi Internal Medicine and Hepatology Unit University Campus Bio-Medico of Rome00128 RomeItaly

Hepatitis C virus(HCV)is one of the main causes of liver disease worldwide,and alterations of glucose metabolism have reached pandemic proportions in western ***,the frequent coexistence between these two conditions is more than simply coincidental,since HCV can induce insulin resistance through several ***,the virus interferes with insulin signaling both directly and indirectly,inducing the production of pro-inflammatory ***,the entire viral life cycle has strict interconnections with lipid metabolism,and HCV is responsible for a"viral"steatosis which is frequently superimposed to a"metabolic"*** evidences suggest that HCV-induced metabolic disorders contribute both to the evolution of liver fibrosis and,likely,to the progression of the other disorders which are typically associated with altered metabolism,in particular *** the present review,we will examine in depth the links between HCV infection and insulin resistance,liver steatosis and diabetes,and analyze the impact of these interactions on the progression of liver fibrosis and *** attention will be focused on the highly debated topic of the relationship between HCV infection and cardiovascular *** available clinical literature on this item will be broadly reviewed and all the mechanisms possibly implied will be discussed.

关键词： Hepatitis C virus Metabolism Insulin resistance Di