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World Journal of Gastroenterology 2007年第19期13卷 2761-2763页

作者： Rossella Bettini Massimo Falconi Stefano Crippa paola Capelli Letizia Boninsegna Paolo Pederzoli Department of Surgery University of Verona Policlinico "GB Rossi" Verona Italy Department of Pathology University of Verona Policlinico "GB Rossi" Verona Italy

Von Recklinghausen＇s disease is an autosomal dominant hereditary disease associated with a wide number of neoplasms. We report a case of a 47-year-old Caucasian male affected by Von Recklinghausen＇s disease who developed a malignant somatostatinoma of the papilla major and minor associated with jejunal gastrointestinal stromal tumour with uncertain behaviour. At laparotomy, multiple hepatic metastases were evident. Whipple pancreaticoduodenectomy, jejunal resection, extensive lymphadenectomy and multiple hepatic wedge resections were performed. The patient was alive without recurrence after 24 mo. This is the fourth case reported in the world literature of a patient with Von Recklinghausen＇s disease associated with periampuUary somatostatinomas and jejunal stromal tumor. In patients with Von Recklinghausen＇s disease who complain of gastrointestinal symptoms, a high suspicion index for periampullary endocrine tumours and/or gastrointestinal stromal tumour is required. An aggressive surgical approach seems to give long term survival also in metastatic patients.

关键词： Endocrine tumour Gastrointestinal stromal tumour Neurofibromatosis Somatostatinoma Pancreatic neoplasm

Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols

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Asian Journal of Andrology 2010年第6期12卷 819-826页

作者： Rossella.Giuliani Ivana Antonucci Isabella Torrente paola Grammatico Giandomenico Palka Liborio Stuppia Department of Clinical Sciences and Bioimages ＇G. d＇Annunzio ＇University Chieti-Pescara 66013 Italy Department of Biomedical Sciences ＇G. d＇Annunzio＇ University Chieti-Pescara 66013 Italy IRCCS CSS-Mendel Institute Rome 00198 Italy Medical Genetics Laboratory Experimental Medicine Department Sapienza S. Camillo-Forlanini Hospital Universityof Rome Rome 00152 Italy Human Genetic Division Pescara Hospital Pescara 65100 Italy I.G.M. CNR c/o IOR Bologna 40136 Italy

Congenital bilateral absence of vas deferens （CBAVD） is a manifestation of the mildest form of cystic fibrosis （CF） and is characterized by obstructive azoospermia in otherwise healthy patients. Owing to the availability of assisted reproductive technology, CBAVD patients can father children. These fathers are at risk of transmitting a mutated allele of the CF transmembrane conductance regulator （CFTR） gene, responsible for CF, to their offspring. The identification of mutations in both CFTR alleles in CBAVD patients is a crucial requirement for calculating the risk of producing a child with full-blown CF if the female partner is a healthy CF carrier. However, in the majority of CBAVD patients, conventional mutation screening is not able to detect mutations in both CFTR alleles, and this difficulty hampers the execution of correct genetic counselling. To obtain information about the most represented CFTR mutations in CBAVD patients, we analysed 23 CBAVD patients, 15 of whom had a single CFTR mutation after screening for 36 mutations and the 5T allele. The search for the second CFTR mutation in these cases was performed by using a triplex approach：（i） first, a reverse dot-blot analysis was performed to detect mutations with regional impact; （ii） next, multiple ligation-dependent probe amplification assays were conducted to search for large rearrangements; and （iii） finally, denaturing high-performance liquid chromatography was used to search for point mutations in the entire coding region. Using these approaches, the second CFTR mutation was detected in six patients, which increased the final detection rate to 60.8%.

关键词： congenital bilateral absence of vas deferens cystic fibrosis transmembrane conductance regulator male infertility

Mycobacterium avium subspecies paratuberculosis in the etiology of Crohn's disease, cause or epiphenomenon?

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World Journal of Gastroenterology 2014年第36期20卷 13060-13070页

作者： Elisa Liverani Eleonora Scaioli Carla Cardamone paola Dal Monte Andrea Belluzzi Gastroenterology Division Department of Medical and Surgical Sciences Sant’Orsola-Malpighi University Hospital 40138 Bologna Italy Diagnostic and Speciality Medicine Department of Experimental Microbiology Unit Sant’Orsola-Malpighi University Hospital 40138 Bologna Italy

The origin of inflammatory bowel disease is unknown. Attempts have been made to isolate a microorganism that could explain the onset of inflammation, but no pathological agent has ever been identified. Johne’s disease is a granulomatous chronic enteritis of cattle and sheep caused by Mycobacterium avium subspecies paratuberculosis (MAP) and shows some analogies with Crohn’s disease (CD). Several studies have tried to clarify if MAP has a role in the etiology of CD. The present article provides an overview of the evidence in favor and against the “MAP-hypothesis”, analyzing the methods commonly adopted to detect MAP and the role of antimycobacterial therapy in patients with inflammatory bowel disease. Studies were identified through the electronic database, MEDLINE, and were selected based on their relevance to the objective of the review. The presence of MAP was investigated using multiple diagnostic methods for MAP detection and in different tissue samples from patients affected by CD or ulcerative colitis and in healthy controls. On the basis of their studies, several authors support a close relationship between MAP and CD. Although increasing evidence of MAP detection in CD patients is unquestionable, a clear etiological link still needs to be proven.

关键词： Mycobacterium avium paratuberculosis Crohn’ s disease Inflammatory bowel disease Johne’ s disease Mycobacterial protein tyrosine phosphatase

Sperm quality improvement after natural anti-oxidant treatment of asthenoteratospermic men with leukocytospermia

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Asian Journal of Andrology 2008年第2期10卷 201-206页

作者： paola Piomboni Laura Gambera Francesca Serafini Giovanna Campanella Giuseppe Morgante Vincenzo De Leo Department of Surgery Biology SectionObstetrics and Reproductive Medicine Gynecology and Obstetrics Section University of Siena Siena 53100 Italy Center for Diagnosis and Treatment of Couple Sterility Siena Hospital Siena 53100 Italy Department of Pediatrics Obstetrics and Reproductive Medicine Gynecology and Obstetrics Section University of Siena Siena 53100 Italy

Aim： To study the immune-modulating and anti-oxidant effects of beta-glucan, papaya, lactoferrin, and vitamins C and E on sperm characteristics of patients with asthenoteratozoospermia associated with leucocytosis. Methods： Fifty-one patients referred to our Sterility Center for semen analysis were selected. Sperm parameters were assessed before and after patient＇s treatment with beta-glucan, lactoferrin, papaya, and vitamins C and E. DNA damage was assessed by the acridine orange test and sperm structural characteristics were evaluated by transmission electron microscopy. Results： After 90 days of treatment, an increase in the percentage of morphologically normal sperm （17.0 ± 5.2 vs. 29.8 ± 6.5） and total progressive motility （19.0± 7.8 vs. 34.8 ± 6.8） were detected. Structural sperm characteristics as well as chromatin integrity were also improved after treatment. In terms of leukocyte concentration in seminal fluid, a significant reduction was recorded （2.2 ± 0.9 vs. 0.9± 0.2）. Conclusion： The treatment of an inflammatory process by the synergic action of immune modulators and anti-oxidants could protect sperm during maturation and migration, leading to improved sperm function. （Asian JAndrol 2008 Mar;. 10： 201-206）

关键词： asthenoteratozoospermia leukocytospermia anti-oxidant beta-glucan papaya lactoferrin vitamin C vitamin E chromatinintegrity transmission electron microscopy

Peliosis hepatis as an early histological finding in idiopathic portal hypertension: A case report

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World Journal of Gastroenterology 2006年第22期12卷 3612-3615页

作者： Annalisa Berzigotti Donatella Magalotti paola Zappoli Cristina Rossi Francesco Callea Marco Zoli Dipartimento di Medicina Interna Cardioangiologia EpatologiaPoliclinico S.Orsola-MalpighiUniversità di Bologna Italy Dipartimento di Scienze Radiologiche ed Istocitopatologiche Policlinico S.Orsola-Malpighi Università di BolognaItaly Servizio di Anatomia Patologica Ospedale Pediatrico Bambino Gesù IRCCSRomaItaly Dipartimento di Medicina Interna Cardioangiologia EpatologiaPoliclinico S.Orsola-MalpighiUniversità di BolognaItaly

Peliosis hepatis is a rare condition characterized by dilatation of hepatic sinusoids and blood-filled spaces in the liver mainly observed in subjects exposed to toxic substances or estrogens, which is frequently asymptomatic. Non-cirrhotic idiopathic portal hypertension （NCIPH） is also a vascular disease of the liver rarely observed in European countries, which is usually diagnosed only when the hemorrhagic complications of portal hypertension occur. We report a case of NCIPH in a young Caucasian male who was diagnosed with liver peliosis, showing ultrasonographic and endoscopic signs of portal hypertension four years after. A second biopsy was diagnostic for NCIPH. Even if the pathogenesis remains obscure, peliosis hepatis can be considered as an early sign of vascular disease of the liver, which may progress to more definite conditions.

关键词： Peliosis hepatis Idiopathic portal hypertension Hepatic veins catheterisation

Human induced pluripotent stem cells for monogenic disease modelling and therapy

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World Journal of Stem Cells 2016年第4期8卷 118-135页

作者： paola Spitalieri Valentina Rosa Talarico Michela Murdocca Giuseppe Novelli Federica Sangiuolo Department of Biomedicine and Prevention Tor Vergata University

Recent and advanced protocols are now available to derive human induced pluripotent stem cells (hiPSCs) from patients affected by genetic diseases. No curative treatments are available for many of these diseases; thus, hiPSCs represent a major impact on patient’ health. hiPSCs represent a valid model for the in vitro study of monogenic diseases, together with a better comprehension of the pathogenic mechanisms of the pathology, for both cell and gene therapy protocol applications. Moreover, these pluripotent cells represent a good opportunity to test innovative pharmacological treatments focused on evaluating the efficacy and toxicity of novel drugs. Today, innovative gene therapy protocols, especially gene editing-based, are being developed, allowing the use of these cells not only as in vitro disease models but also as an unlimited source of cells useful for tissue regeneration and regenerative medicine, eluding ethical and immune rejection problems. In this review, we will provide an up-to-date of modelling monogenic disease by using hiPSCs and the ultimate applications of these in vitro models for cell therapy. We consider and summarize some peculiar aspects such as the type of parental cells used for reprogramming, the methods currently used to induce the transcription of the reprogramming factors, and the type of iPSC-derived differentiated cells, relating them to the genetic basis of diseases and to their inheritance model.

关键词： Human induced pluripotent stem cells Gene therapy Monogenic diseases Gene editing Foetal cells Reprogramming techniques Differentiation

Extraction of β-Carotene,Vitamin C and Antioxidant Compounds from Physalis peruviana(Cape Gooseberry)Assisted by High Hydrostatic Pressure

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Food and Nutrition Sciences 2013年第8期4卷 109-118页

作者： Vilbett Briones-Labarca Claudia Giovagnoli-Vicuna paola Figueroa-Alvarez Issis Quispe-Fuentes Mario Pérez-Won Department of Food Engineering Universidad de La SerenaAv.RaúlBitrán s/nLa SerenaChile Center for Advanced Studies in Arid Zones CEAZAAv.Raúl Bitrán s/nLa SerenaChile

High hydrostatic pressure assisted extraction (HHPE) has several advantages when compared to traditional extraction methods, which frequently cause degradation and loss of target components and might consume large volumes of environmentally unfriendly solvents. The aim of this study was to develop an assisted extraction method using high hydrostatic pressure (HHPE) and to evaluate both HHPE and conventional extraction methods for β-carotene, antioxidant compounds and vitamin C from cape gooseberry. β-carotene and compounds with antioxidant activity (2,2-diphenyl-1-picrylhydrazyl radical assay (DPPH*) or radical scavenging activity;ferric reducing antioxidant power assay (FRAP)) were extracted using HHPE for 5 min, 10 min and 15 min at 500 MPa, while vitamin C was extracted at 500 MPa for 30 s, 60 s and 90 s. Processing significantly affected (p ≤ 0.05) the β-carotene content of all samples, increasing retention by 8%, 14% and 15% at 500 MPa after 5 min, 10 min and 15 min of HPPE, respectively. The highest antioxidant content determined by DPPH* and FRAP assays was obtained in a sample treated at 500 MPa for 15 min, showing increases of 26% and 51%, respectively, compared with an untreated sample. The ascorbic acid content of fresh cape gooseberry was 26.31 mg·100 g-1. In fact, the ascorbic acid levels were significantly higher for all high-pressure-treated samples compared to this of conventionally extracted sample (p ≤ 0.05), exhibiting increases of 9%, 41% and 53% at 500 MPa after 30 s, 60 s and 90 s of HPPE, respectively. Thus, the application of HHPE produced higher β-carotene content, antioxidant compounds and vitamin C content and required less extraction time compared to other extraction methods. The pharmaceutical and food industries can benefit by using high pressure extraction technology.

关键词： Cape Gooseberry High Hydrostatic Pressure β-Carotene Vitamin C

Assessment of liver disease in patients with chronic hepatitis C and unhealthy alcohol use

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World Journal of Gastroenterology 2021年第23期27卷 3223-3237页

作者： Daniel Fuster Xavier García-Calvo paola Zuluaga Ferran Bolao Robert Muga Department of Internal Medicine Addiction UnitHospital Universitari Germans Trias i PujolUniversitat Autònoma de BarcelonaBadalona 08916Spain Department of Internal Medicine Hospital Universitari BellvitgeInstitut d'InvestigacióBiomèdica de Bellvitge(IDIBELL)L'Hospitalet de LlobregatBarcelona 08907Spain

Hepatitis C virus(HCV)infection and unhealthy alcohol use are major drivers of the burden of liver disease worldwide and commonly *** of underlying liver damage is a cornerstone of the clinical care of patients with chronic HCV infection and/or unhealthy alcohol use because many of them are diagnosed at advanced stages of *** diagnosis of liver disease before decompensated liver cirrhosis becomes established is essential for treatment with direct acting antivirals and/or abstinence from alcohol consumption,which are the main therapeutic approaches for clinical *** this review,we discuss current knowledge around the use of non-invasive methods to assess liver disease,such as abdominal ultrasound,controlled attenuation parameter,transient elastography,magnetic resonance imaging,and indices based on serum markers of liver injury.

关键词： Hepatitis C virus Alcohol Liver fibrosis Non-invasive methods Ultrasound Transient elastography

Autoimmune hepatitis in genetic syndromes:A literature review

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World Journal of Hepatology 2021年第10期13卷 1328-1340页

作者： Anna paola Capra Emanuele Chiara Silvana Briuglia Department of Biomedical DentalMorphological and Functional Imaging SciencesUniversity of MessinaMessina 98100Italy Department of Clinical Pathology University of MessinaMessina 98100Italy

Genetic syndromes represent relevant and rare *** conditions include a large amount of epidemiological,pathogenetic and clinical ***,a systematic approach to genetic syndromes is often prevented by the rareness of these ***,although clinical features are usually precisely defined,nowadays more uncommon associations between genetic syndromes and internal medicine related diseases have been insufficiently *** hepatitis(AIH)is a chronic liver disease caused by loss of tolerance to hepatocyte-specific ***,a better knowledge about specific genetic syndromes in which AIH is more frequent could be important in the clinical management of patients,both for an early diagnosis and for a prompt ***,a systematic approach could explain if onset,clinical course,and response to treatment of AIH are typical for specific genetic *** took in consideration all the scientific articles reported in PubMed in the last 10 years,from 2010 to *** purpose of this review is to explore the prevalence of AIH in genetic syndrome,but also to suggest new classification,that could be useful for pathogenetic hypothesis and clinical approach to genetic *** the 139 publications selected using keywords“autoimmune hepatitis”and“genetic syndrome”,30 papers(21.6%)respected the chosen inclusion criteria,reporting the association between AIH in patients with a genetic *** have collected in all 47 patients with AIH and genetic syndrome,and with median age of *** suggest that when a patient presents a clinical picture of cryptogenic chronic hepatitis,that is unexplained,it is useful to explore differential diagnosis of AIH associated with genetic *** the clinical relevance of this topic,further reports are needed to demonstrate our hypothesis and collect new evidence in this field.

关键词： Autoimmunity Hepatitis Gene Syndrome Liver Disease Immunity

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BIOCELL 2022年第12期46卷 2525-2530页

作者： MONICA SAVIO VALENTINA MINOIA paola FULGHIERI LUCIA ANNA STIVALA VIRGINIE SOTTILE Department of Molecular Medicine University of PaviaPavia27100Italy

The nutraceutical resveratrol is associated with a range of biological effects,from antibiotic to antiinflammatory *** major axis of research has sought to harness its anti-tumour potential,with promising preclinical results and early clinical trials.A second strong interest relies on the anti-ageing effects ascribed to the compound and its application to stem cell *** is becoming clear however that these possible favourable effects are conditioned by a set concentration range not easily controllable in *** we evoke novel developments in the field that could lead to more reliable conditions for the translational use of resveratrol-based compounds.

关键词： Resveratrol Nutraceutical Cancer Cell Differentiation Dihydroxystilbene