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Corrigendum to ‘A novel STK11 gene mutation (c.388dupG,***130Glyfs∗33) in a Peutz-Jeghers family and evidence of higher gastric cancer susceptibility associated with alterations in STK11 region aa 107–170’ [Gene Dis (9) (2022) 288–291]

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Genes & Diseases 2024年第2期11卷 1082-1083页

作者： Giovanna Forte filomena Cariola Katia De Marco Andrea Manghisi filomena Anna Guglielmi Raffaele Armentano Giuseppe Lippolis Pietro Giorgio Cristiano Simone Vittoria Disciglio Medical Genetics National Institute of Gastroenterology “S. de Bellis” Research Hospital Castellana Grotte Bari 70013 Italy Histopathology Unit National Institute of Gastroenterology “S. de Bellis” Research Hospital Castellana Grotte Bari 70013 Italy Department of General Surgery National Institute of Gastroenterology “S. de Bellis” Research Hospital Castellana Grotte Bari 70013 Italy Gastroenterology and Digestive Endoscopy Unit National Institute of Gastroenterology “S. de Bellis” Research Hospital Castellana Grotte Bari 70013 Italy Department of Biomedical Sciences and Human Oncology (DIMO) Medical Genetics University of Bari Aldo Moro Piazza Umberto I Bari 70124 Italy

Corrigendum to ‘Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes’ [Gene Dis (10) (2023),1187–1189]

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Genes & Diseases 2024年第2期11卷 1084-1084页

作者： Giovanna Forte filomena Cariola Antonia Lucia Buonadonna Anna filomena Guglielmi Andrea Manghisi Katia De Marco Valentina Grossi Candida Fasano Martina Lepore Signorile Paola Sanese Rosanna Bagnulo Nicoletta Resta Vittoria Disciglio Cristiano Simone Medical Genetics National Institute of Gastroenterology “S. de Bellis” Research Hospital Castellana Grotte Bari 70013 Italy Medical Genetics Department of Precision and Regenerative Medicine and Jonic Area (DiMePRe-J) University of Bari Aldo Moro Bari 70124 Italy

Commentary on “PGT or ICSI? The impression of NGS-based PGT outcomes in nonmosaic Klinefelter syndrome”

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Asian Journal of Andrology 2021年第6期23卷 651-652页

作者： Ermanno Greco filomena Scarselli Giulia Pirastu Private Hospital Villa Mafalda Center for Reproductive Medicine5 Monte delle Gioie St.Rome 00199Italy

Klinefelter syndrome(KS),described for the first time in 1942,is the most common chromosome aneuploidy in men,affecting from 1/500 to 1/1000 newborn males,and it frequently causes *** the majority of cases,KS patients present a nonmosaic karyotype 47,XXY or a mosaic 47,XXY/46,XY karyotipe.1 KS is characterized usually by gynecomastia,small testes,and alteration of germinal epithelium and Sertoli cell.

关键词： epithelium Klinefelter frequent

Linking forest diversity and tree health： preliminary insights from a large-scale survey in Italy

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Forest Ecosystems 2018年第2期5卷 151-161页

作者： Filippo Bussotti Matteo Feducci Giovanni Iacopetti filomena Maggino Martina Pollastrini Federico Selvi Department of Agri-Food Production and Environmental Sciences (DISPAA) University of Firenze Piazzale delle Cascine 18- 50144 Florence Italy Department of Statistical Sciences University La Sapienza P.le Aldo Moro 5 00185 Rome Italy

Forest health is currently assessed in Europe （ICP Forests monitoring program）. Crown defoliation and dieback, tree mortality, and pathogenic damage are the main aspects considered in tree health assessment. The worsening of environmental conditions （i.e., increase of temperature and drought events） may cause large-spatial scale tree mortality and forest decline. However, the role of stand features, including tree species assemblage and diversity as factors that modify environmental impacts, is poorly considered. The present contribution reanalyses the historical dataset of crown conditions in Italian forests from ] 997 to 2014 to identify ecological and structural factors that influence tree crown defoliation, highlighting in a special manner the role of tree diversity. The effects of tree diversity were explored using the entire data set through multivariate cluster analyses and on individual trees, analysing the influence of the neighbouring tree diversity and identity at the local （neighbour） level. Preliminary results suggest that each tree species shows a specific behaviour in relation to crown defoliation, and the distribution of crown defoliation across Italian forests reflects the distribution of the main forest types and their ecological equilibrium with the environment. The potentiality and the problems connected to the possible extension of this analysis at a more general level （European and North American） were discussed.

关键词： Cluster analysis Crown defoliation Forest structure ICP Forests Neighbouring trees Tree diversity Tree identity

Oxypropylation of Brazilian Pine-Fruit Shell Evaluated by Principal Component Analysis

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Journal of Renewable Materials 2018年第7期6卷 715-723页

作者： Stephany Cde Rezende João APinto Isabel PFernandes Fernanda VLeimann Maria-filomena Barreiro Laboratory of Separation and Reaction Engineering-Laboratory of Catalysis and Materials(LSRE-LCM) Polytechnic Institute of BragançaBragançaPortugal Programa de Pós-Graduação em Tecnologia de Alimentos(PPGTA) Universidade Tecnológica Federal do Paraná-UTFPR Campus Campo MourãoVia Rosalina Maria Dos Santos1233.CEP 87301-899.Caixa Postal:271Campo Mourão-PR-Brasil Mountain Research Centre(CIMO) Polytechnic Institute of BragançaBragançaPortugal

Pine-fruit shell (PFS) is a lignocellulosic residue derived from the fruit of Araucaria angustifolia, a coniferoustree native of South America, part of a whole vegetation of the Atlantic Forest, found in the South and Southwestof Brazil. In this work PFS will be characterized and used in the production of PFS-based polyols throughoxypropylation. Three series were chosen (PFS/propylene oxide (PO) (w/v, g/mL) of 30/70, 20/80 and 10/90)with four catalyst levels (5%, 10%, 15% and 20%, (w/w, PFS based)). Oxypropylation occurred at moderateconditions of temperature, pressure and time giving rise to liquid polyols with a homopolymer content (PPO)ranging from 4-65%, a hydroxyl number (IOH) between 257-605 mg KOH/g and viscosities (V) varying from0.76 Pa.s to 373.90 Pa.s (20°C) for the series 20/80 and 10/90, while for the series 30/70, the viscosity reachedvalues higher than 500 Pa.s, 20°C. The unreacted PFS (UR) varied between 3.6% and 77.4% (PFS-basis). Afterthe PFS-based polyols production and characterization, a principal component analysis (PCA) was performed inorder to evaluate the established interactions between the used formulation variables and the obtained polyolproperties. The PCA analysis allowed to clarify the interactions between PFS and PO contents and the finalbiopolyol properties (PPO, IOH, V and UR). This approach showed to be a simple method to rationally analyzethe influence of the input formulation variables on the final polyol properties.

关键词： Principal components analysis Brazilian pine-fruit shell (PFS) oxypropylation polyols

Risk stratification of HCC occurrence after HCV eradication:a complicate plot of risk factors related and unrelated to the previous viral disease

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Hepatobiliary Surgery and Nutrition 2020年第4期9卷 511-513页

作者： Valentina Cossiga Maria Guarino filomena Morisco Nicola Caporaso Gastroenterology Unit Department of Clinical Medicine and SurgeryUniversity of Naples“Federico II”NaplesItaly

Hepatocellular carcinoma(HCC)is the fifth most common cancer and the second most frequent cause of cancer-related death *** C virus(HCV)infection is one of leading cause of cirrhosis,that is the strongest risk factor ... 详细信息

关键词： cancer death cirrhosis

A novel STK11 gene mutation (c.388dupG,***130Glyfs∗33) in a Peutz-Jeghers family and evidence of higher gastric cancer susceptibility associated with alterations in STK11 region aa 107-170

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Genes & Diseases 2022年第2期9卷 288-291页

作者： Giovanna Forte filomena Cariola Katia De Marco Andrea Manghisi filomena Anna Guglielmi Raffaele Armentano Giuseppe Lippolis Pietro Giorgio Cristiano Simone Vittoria Disciglio Medical Genetics National Institute of Gastroenterology“S.de Bellis”Research HospitalCastellana GrotteBari 70013Italy Histopathology Unit National Institute of Gastroenterology“S.de Bellis”Research HospitalCastellana GrotteBari 70013Italy Department of General Surgery National Institute of Gastroenterology“S.de Bellis”Research HospitalCastellana GrotteBari 70013Italy Gastroenterology and Digestive Endoscopy Unit National Institute of Gastroenterology“S.de Bellis”Research HospitalCastellana GrotteBari 70013Italy Department of Biomedical Sciences and Human Oncology(DIMO) Medical GeneticsUniversity of Bari Aldo MoroPiazza Umberto IBari 70124Italy

Peutz-Jeghers syndrome(PJS)is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation and gastrointestinal(GI)hamartomatous polyposis and is associated with an increased risk of gastrointestinal,breast,gynecologic and other extra-GI *** serine/threonine kinase 11(STK11)gene has been identi-fied as a pathogenic factor in ***11 is a tumor sup-pressor gene located on chromosome 19p13.3 and includes 9 coding exons.1 The STK11 protein is composed of 433 amino acids(aa)and comprises a kinase catalytic region(aa 49e309)as well as N-and C-terminal regulatory domains.

关键词： STK11 Jeghers alterations

Mycorrhizal synthesis between Pisolithus arhizus and adult clones of Arbutus unedo in vitro and in nursery

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Journal of Forestry Research 2013年第4期24卷 659-670页

作者： filomena Gomes Helena Machado Esteban San Martin A.Portugal Jorge M.Canhoto filomena Gomes.CERNAS Dep.Recursos FlorestaisEscola Superior Agrária Coimbra INIAV Instituto Nacional de Investigao Agráriae VeterináriaIP.Av.República Centre of Functional Ecology Department of Life SciencesUniversity of Coimbra

Arbutoid mycorrhizae were synthesized between adult se- lected clones of Arbutus unedo L. and Pisolithus arhizus. Two micro- propagated clones were tested： ALl, in vitro and C1 （acclimatized plants） in nursery and later in a field trial. In vitro, rooted shoots were trans- ferred to test tubes containing the substrate previously inoculated with mycelium cultured on agar. In the nursery, two inoculation treatments were tested （vegetative inocula or dry sporocarps） and compared to con- trol plants. In the field trial, plants from nursery inoculation treatments were compared and an additional control treatment using seedlings was implemented. Plant height was evaluated 4 months later in the nursery and 20 months later in the field trial.

关键词： arbutoid mycorrhizae Ericaceae field plants Arbutus unedoor strawberry tree

Biliary complications after liver transplantation:current perspectives and future strategies

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Hepatobiliary Surgery and Nutrition 2021年第1期10卷 76-92页

作者： Bianca Magro Matteo Tacelli Alessandra Mazzola filomena Conti Ciro Celsa Section of Gastroenterology and Hepatology Dipartimento di Promozione della SaluteMaterno-InfantileMedicina Interna e Specialistica di Eccellenza(PROMISE)University of PalermoPalermoItaly Service d'Hépatologie et Transplantation Hépatique Hôpital de la PitiéSalpétrièreAP-HPParisFrance

Importance:Liver transplantation(LT)is a life-saving therapy for patients with end-stage liver disease and with acute liver failure,and it is associated with excellent outcomes and survival rates at 1 and 5 *** incidence of biliary complications(BCs)after LT is reported to range from 5%to 20%,most of them occurring in the first three months,although they can occur also several years after ***:The aim of this review is to summarize the available evidences on pathophysiology,risk factors,diagnosis and therapeutic management of BCs after *** Review:a literature review was performed of papers on this topic focusing on risk factors,classifications,diagnosis and treatment Findings:Principal risk factors include surgical techniques and donor’s characteristics for biliary leakage and anastomotic biliary strictures and vascular alterations for non-anastomotic biliary *** is the gold standard both for intra-and extrahepatic BCs,while invasive cholangiography should be restricted for therapeutic uses or when MRCP is *** treatment,endoscopic techniques are the first line of treatment with success rates of 70-100%.The combined success rate of ERCP and PTBD overcome 90%of *** leaks often resolve spontaneously,or with the positioning of a stent in ERCP for major bile leaks Conclusions and Relevance:BCs influence morbidity and mortality after LT,therefore further evidences are needed to identify novel possible risk factors,to understand if an immunological status that could lead to their development exists and to compare the effectiveness of innovative surgical and machine perfusion techniques.

关键词： Liver transplantation(LT) biliary tract diseases cholangiography cholangiopancreatography endoscopic retrograde review