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World Journal of Gastroenterology 2006年第39期12卷 6343-6348页

作者： Ada Piepoli Annamaria Gentile maria rosa valvano Daniela Barana Cristina Oliani rosa Cotugno Michele Quitadamo Angelo Andriulli Francesco Perri Unit and Research Laboratory of Gastroenterology "Casa Sollievo della Sofferenza" Hospital IRCCS San Giovanni Rotondo Italy Cristina Oliani Department of Medical Oncology Hospital and University of Verona Verona Italy Oncology Unit ULSS5 Ovest Vicentino Verona Italy

AIM: To investigate simultaneously UGT1A7, UGT1A9, ARP, SPINK and CFTR genes to verify whether genetic polymorphisms predispose to the development of pancreatic cancer (PC). METHODS: Genomic DNA of 61 pancreatic cancer patients and 105 healthy controls (HC) were analyzed. UGT1A7 genotyping was determined by PCR-RFLP analysis. Specific PCR and sequencing were used to analyze genetic variants of UGT1A9, ARP, SPINK1 and CFTR genes. RESULTS: Four different alleles (*1: WT; *2: N129K and R131K; *3: N129K, R131K, and W208R; and *4: W208R) in UGT1A7 and three different alleles (*1: WT; *4: Y242X; and *5: D256N) in UGT1A9 were detected. All UGT1A polymorphisms were observed at similar frequency in PC patients and HC. Seven different alleles in ARP were found in PC patients and HC at similar frequency. The SPINK1 mutations N34S and P55S occurred in five PC patients with a prevalence (4.1%) not significantly different from that observed (2.0%) in HC. The only CFTR ΔF508 mutation was recognized in three PC patients with a prevalence (4.9%) similar to HC. CONCLUSION: UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms are not associated with PC in Italian patients.

关键词： UGT1A7 UGT1A9 基因多态性胰腺癌治疗

Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult-and pediatric-onset inflammatory bowel disease in Italy

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World Journal of Gastroenterology 2008年第29期14卷 4643-4651页

作者： Anna Latiano Orazio Palmieri maria rosa valvano Renata D'Incà Salvatore Cucchiara Gabriele Riegler Anna maria Staiano Sandro Ardizzone Salvatore Accomando Gian Luigi de Angelis Giuseppe Corritore Fabrizio Bossa Vito Annese U.U. O.O. di Gastroenterologia ed Endoscopia Ospedale IRCCS-CSSSan Giovanni Rotondo (Fg) 71013 Italy Cattedra di Gastroenterologia Università di PadovaPadova 35122 Italy Clinica Pediatrica Università "La Sapienza" Roma 00185 Italy Cattedra di Gastroenterologia Università di NapoliNapoli 80131 Italy Clinica Pediatrica Università di Napoli Napoli 80131 Italy Unità di Gastroenterologia Ospedale "Sacco" Milano 20157 Italy Clinica Pediatrica Università di Palermo Palermo 90128 Italy Clinica Pediatrica Università di Parma Parma 43100 Italy

AIM: To investigate gene variants in a large Italian inflammatory bowel disease (IBD) cohort, and to analyze the correlation of sub-phenotypes (including age at diagnosis) and epistatic interaction with other IBD genes. METHODS: Total of 763 patients with Crohn's disease (CD, 189 diagnosed at age < 19 years), 843 with ulcerative colitis (UC, 179 diagnosed <19 years), 749 healthy controls, and 546 healthy parents (273 trios) were included in the study. The rs2241880 [autophagy-related 16-like 1 (ATG16L1)], rs11209026 and rs7517847 [interleukin 23 receptor (IL23R)], rs2066844, rs2066845, rs2066847 (CARD15), rs1050152 (OCTN1), and rs2631367 (OCTN2) gene variants were genotyped. RESULTS: The frequency of G allele of ATG16L1 SNP (Ala197Thr) was increased in patients with CD compared with controls (59% vs 54% respectively) (OR = 1.25, CI = 1.08-1.45, P = 0.003), but not in UC (55%). The frequency of A and G (minor) alleles of Arg381Gln, rs11209026 and rs7517847 variants of IL23R were reduced significantly in CD (4%, OR = 0.62, CI = 0.45-0.87, P = 0.005; 28%, OR = 0.64, CI = 0.55-0.75, P < 0.01), compared with controls (6% and 38%, respectively). The A allele (but not G) was also reduced signifi cantly in UC (4%, OR = 0.69, CI = 0.5-0.94, P = 0.019). No association was demonstrated with sub-phenotypes and interaction with CARD15 , and OCTN1/2 genes, although both gene variants were associated with pediatric-onset disease. CONCLUSION: The present study confirms the association of IL23R polymorphisms with IBD, and ATG16L1 with CD, in both adult- and pediatric-onset subsets in our study population.

关键词：肠炎肠溃疡结肠疾病遗传因素

Materials for the study of the locus operandi in the search for missing persons in Italy

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Forensic Sciences Research 2022年第3期7卷 371-377页

作者： Pier Matteo Barone rosa maria Di Maggio Silvia Mesturini Archaeology and Classics Program American University of RomeRomeItaly Geoscienze Forensi ItaliaVR-Forensic Geoscience RomeItaly Comitato Scientifico Ricerca Scomparsi RomeItaly Studio Legale e Criminologico Mesturini LivornoItaly

Geographic profiling,or locus operandi,is a scientific approach that has been applied to forensic investigations for several years.However,it has never been applied to a phenomenon as complex as the search for missing persons.This article presents three Italian case studies in which geographic profiling was used to narrow the areas to search for missing persons.The geographical data were mapped and processed on a geographic information system platform using computational geometry analysis.However,these disappearances occurred during the Italian lockdown period,imposed to address the COVID-19 outbreak,which made the searches slower and more complex than usual.

关键词： Forensic sciences geographic profiling locus operandi geographic information systems missing persons

A layer-wise MITC9 finite element for the freevibration analysis of plates with piezo-patches

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International Journal of Smart and Nano Materials 2015年第2期6卷 85-104页

作者： maria Cinefra Stefano valvano Erasmo Carrera Department of Mechanical and Aerospace Engineering Politecnico di TorinoTorinoItaly School of Aerospace Mechanical and Manufacturing Engineering CollegeRMIT UniversityMelbourneAustralia Department of Mathematics Faculty of ScienceKing Abdulaziz UniversityP.O.Box 80203Jeddah 21589Saudi Arabia

The present article considers the free-vibration analysis of plate structures with piezoelectric patches by means of a plate finite element with variable through-the-thickness layer-wise kinematic.The refined models used are derived from Carrera’s Unified Formulation(CUF)and they permit the vibration modes along the thickness to be accurately described.The finite-element method is employed and the plate element implemented has nine nodes,and the mixed interpolation of tensorial component(MITC)method is used to contrast the membrane and shear locking phenomenon.The related governing equations are derived from the principle of virtual displacement,extended to the analysis of electromechanical problems.An isotropic plate with piezoelectric patches is analyzed,with clamped-free boundary conditions and subjected to open-and short-circuit configurations.The results,obtained with different theories,are compared with the higher-order type solutions given in the literature.The conclusion is reached that the plate element based on the CUF is more suitable and efficient compared to the classical models in the study of multilayered structures embedding piezo-patches.

关键词： plate patches finite-element method piezoelectric materials mixed interpolated tensorial components Carrera’s Unified Formulation layer-wise

Clustered Regularly Interspaced Short Palindromic Repeats(CRISPR):A critical overview on the most promising applications of molecular scissors in oral medicine

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BIOCELL 2022年第8期46卷 1837-1842页

作者： MARCO TATULLO LUISA LIMONGELLI rosa maria MARANO ALESSANDRA VALLETTA ANGELA TEMPESTA SANDRO RENGO Department of Basic Medical Sciences Neurosciences and Sense OrgansUniversity of Bari Aldo MoroBari74124Italy Department of Interdisciplinary Medicine University of Bari Aldo MoroBari74124Italy Marrelli Health-Tecnologica Research Institute Biomedical SectionStem Cells and Medical Genetics UnitsCrotone88900Italy Department of Neurosciences Reproductive and Odontostomatological SciencesUniversity of Naples Federico IINaples80131Italy

The scientific community is continuously working to translate the novel biomedical techniques into effective medical treatments.CRISPR-Cas9 system(Clustered Regularly Interspaced Short Palindromic Repeats-9),commonly known as the“molecular scissor”,represents a recently developed biotechnology able to improve the quality and the efficacy of traditional treatments,related to several human diseases,such as chronic diseases,neurodegenerative pathologies and,interestingly,oral diseases.Of course,dental medicine has notably increased the use of biotechnologies to ensure modern and conservative approaches:in this landscape,the use of CRISPR-Cas9 system may speed and personalize the traditional therapies,ensuring a good predictability of clinical results.The aim of this critical overview is to provide evidence on CRISPR efficacy,taking into specific account its applications in oral medicine.

关键词： Clustered Regularly Interspaced Short Palindromic Repeats(CRISPR) Dentistry Stem cells

Deformation history and processes during accretion of seamounts in subduction zones:The example of the Durkan Complex(Makran,SE Iran)

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Geoscience Frontiers 2023年第2期14卷 182-203页

作者： Edoardo Barbero maria Di rosa Luca Pandolfi Morteza Delavari Asghar Dolati Federica Zaccarini Emilio Saccani Michele Marroni Dipartimento di Fisica e Scienze della Terra Universitàdi Ferrara44123 FerraraItaly Istituto di Geoscienze e Georisorse Consiglio Nazionale delle Ricerche(CNR)10125 TorinoItaly Dipartimento di Scienze della Terra Universitàdi Pisa56126 PisaItaly Istituto di Geoscienze e Georisorse Consiglio Nazionale delle Ricerche(CNR)56124 PisaItaly Faculty of Earth Sciences Kharazmi UniversityTehran 15719-19911Iran Department of Applied Geological Sciences and Geophysics University of Leoben8700 LeobenAustria

The Durkan Complex is a tectonic element of the Makran Accretionary Prism(SE Iran)that includes fragments of Late Cretaceous seamounts.In this paper,the results of map-to micro-scale structural studies of the western Durkan Complex are presented with the aim to describe its structural and tectonometamorphic evolution.The Durkan Complex consists of several tectonic units bordered by mainly NNW-striking thrusts.Three main deformation phases(D_(1),D_(2),and D_(3))are distinguished and likely occurred from the Late Cretaceous to the Miocene–Pliocene.D_(1) is characterized by sub-isoclinal to close and W-verging folds associated with an axial plane foliation and shear zone along the fold limbs.This phase records the accretion of fragments of the seamount within the Makran at blueschist facies metamorphic conditions(160–300℃ and 0.6–1.2 GPa).D_(2) is characterized by open to close folds with subhorizontal axial plane that likely developed during the exhumation of previously accreted seamount fragments.An upper Paleocene–Eocene siliciclastic succession unconformably sealed the D_(1) and D_(2) structures and is,in turn,deformed by W-verging thrust faults typical of D_(3).The latter likely testifies for a Miocene–Pliocene tectonic reworking of the accreted seamount fragments with the activation of out of sequence thrusts.Our results shed light on the mechanism of accretion of seamount materials in the accretionary prisms,suggesting that seamount slope successions favour the localization and propagation of the basal décollement.This study further confirms that the physiography of the subducting plates plays a significant role in the tectonic evolution of the subduction complexes.

关键词： Underplated seamount Makran Accretionary Prism Tectono-sedimentary evolution Tectono-metamorphic evolution Cretaceous Iran

Understanding fatigue in primary biliary cholangitis:From pathophysiology to treatment perspectives

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World Journal of Hepatology 2022年第6期14卷 1111-1119页

作者： Erica Nicola Lynch Claudia Campani Tommaso Innocenti Gabriele Dragoni maria rosa Biagini Paolo Forte Andrea Galli Gastroenterology Research Unit Department of Experimental and Clinical Biomedical Sciences“Mario Serio”University of FlorenceFlorence 50134Italy Department of Experimental and Clinical Medicine University of FlorenceFlorence 50134Italy Department of Medical Biotechnologies University of SienaSiena 53100Italy Division of Gastroenterology University Hospital“Careggi”Florence 50134Italy

Fatigue is considered one of the most frequent and debilitating symptoms in primary biliary cholangitis(PBC),affecting over 50%of PBC patients.One in five patients with PBC suffer from severe fatigue,which significantly impairs quality of life.Fatigue is made up of a central and a peripheral component,whose pathophysiology is still greatly unresolved.Central fatigue is characterised by a lack of self-motivation and can manifest both in physical and mental activities(lack of intention).Peripheral fatigue includes neuromuscular dysfunction and muscle weakness(lack of ability).Peripheral fatigue could be explained by an excessive deviation from aerobic to anaerobic metabolism leading to excessive lactic acid accumulation and therefore accelerated decline in muscle function and prolonged recovery time.As opposed to itching,and with the exception of endstage liver disease,fatigue is not related to disease progression.The objective of this review is to outline current understanding regarding the pathophysiology of fatigue,the role of comorbidities and contributing factors,the main tools for fatigue assessment,the failed therapeutic options,and future treatment perspectives for this disabling symptom.Since fatigue is an extremely common and debilitating symptom and there is still no licensed therapy for fatigue in PBC patients,further research is warranted to understand its causative mechanisms and to find an effective treatment.

关键词： Fatigue Primary biliary cholangitis Treatment Pathophysiology Central fatigue Peripheral fatigue

Analgesic effect of inhaled lavender essential oil for frenotomy in healthy neonates:a randomized clinical trial

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World Journal of Pediatrics 2022年第6期18卷 398-403页

作者： Silvia Maya-Enero Montserrat Fàbregas-Mitjans rosa maria Llufriu-Marquès Júlia Candel-Pau Jordi Garcia-Garcia MaríaÁngeles López-Vílchez Department of Neonatology Service of PediatricsHospital del MarParc de Salut MarUniversitat Pompeu FabraPasseig Marítim 25-2908003BarcelonaSpain

Background Neonatal pain may affect long-term neurodevelopment and must be treated.Frenotomy is a painful procedure wherein a common strategy to relieve pain(sucking)cannot be used because the technique is performed on the tongue.Lavender essential oil(LEO)has sedative and antispasmodic properties and has been successfully used to treat pain during heel puncture and vaccination.Our aim was to demonstrate if the use of inhaled LEO is effective in reducing pain during frenotomy in healthy,full-term neonates.Methods We conducted a randomized clinical trial in neonates who underwent a frenotomy between August 2020 and April 2021.We assessed pain using pre and post-procedure heart rate and oxygen saturation,crying time and Neonatal Infant Pain Scale(NIPS)score.Patients with type 3 tongue tie were randomized into the“experimental group”and“control group”.In both groups,we performed swaddling,administered oral sucrose,and let the newborn suck for two minutes.In the experimental group,we also placed a gauze pad with one drop of LEO under the neonate’s nose for two minutes prior to and during the frenotomy.Results We enrolled 142 patients(71 per group).The experimental group showed significantly lower NIPS scores(1.88 vs 2.92)and cried almost half the amount of time(14.8 vs.24.6 seconds,P=0.006).Comparing with the control group,we observed no side effects in either of the groups.Conclusions We observed a significant decrease in crying time and lower NIPS scores in the neonates who received inhaled LEO and underwent a frenotomy for type 3 tongue-ties.Thus,we recommend using inhaled LEO during neonatal frenotomies.

关键词： Ankyloglossia Aromatherapy Frenotomy Lavender Neonate Neonatal pain Tongue-tie

In vitro Metabolomic Approaches to Investigating the Potential Biological Effects of Phenolic Compounds:An Update

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Genomics, Proteomics & Bioinformatics 2017年第4期15卷 236-245页

作者： Ursula Catalan Laura Barrubes rosa maria Vails rosa Soila Laura Rubio Functional Nutrition Oxidation and Cardiovascular Diseases Group(NFOC-Salut)Technological Center of Nutrition and Health(CTNS)lnstitut d'lnvestigacio Sanitaria Pere Virgili(IISPV)Faculty of Medicine and ttealth SciencesUniversitat Rovira i VirgiliReus 43201Spain Food Technology Department Universitat de Lleida-AGROTECNIO CenterLleida 25198Spain

Dietary phenolic compounds （PCs） have been receiving intercst lor their presumcd roles ill disease prevention. However, there is a lack of studies on the underlying molecular mechanisnls. In this regard, in vitro metabolomic approaches are suitable for the investigation o1 the molecular changes in response to PC exposure. Up to date, the biological effects of PCs have only been cxalnined for PCs from rosemary （Rosmarinus officinalis）, olive oil, and reSVCl-atrol using cell-based mctabolomic approach, although transcriptomic and/or proteomic studies have also been conducted in the same in vi[ro cell experiment in some cases. Our integral analysis of the reviewed studies suggest that PCs may be involved not only in basic cellular processes or macro-and micro-nutrient meta- bolism, but also in specific metabolic pathways that have been thoroughly investigated. These modulated pathways could have a clinical impact on neurodegenerativc diseases, type 2 diabetes, cancer, and cardiovascular diseases. In conclusion, the in vitro metabolomic approaches provide additional information of the molecular mechanisms involved in disease risk reduction of dietary PCs. In order to elucidate the mechanisms of action of PCs, more metabolomic cell-based studies are nccdcd and testing the physiological conjugated forms of PCs in these cell systems could be of special interest.

关键词： Cell-based Metabolomics Phenolic compounds Mechanism of action Disease prevention

Lamb-dip saturated-absorption cavity ring-down rovibrational molecular spectroscopy in the near-infrared

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Photonics Research 2022年第8期10卷 1803-1809页

作者： ROBERTO AIELLO VALENTINA DI SARNO maria GIULIA DELLI SANTI MAURIZIO DE rosa IOLANDA RICCIARDI GIOVANNI GIUSFREDI PAOLO DE NATALE LUIGI SANTAmaria PASQUALE MADDALONI Consiglio Nazionale delle Ricerche-Istituto Nazionale di Ottica Via Campi Flegrei 3480078 PozzuoliItaly Istituto Nazionale di Fisica Nucleare Sez.di NapoliComplesso Universitario di M.S.AngeloVia Cintia80126 NapoliItaly ppqSense S.r.l. Via Gattinella 2050013 Campi BisenzioItaly Consiglio Nazionale delle Ricerche-Istituto Nazionale di Ottica Largo E.Fermi 650125 FirenzeItaly Agenzia Spaziale Italiana Contrada Terlecchia75100 MateraItaly

The high-detection-sensitivity saturated-absorption cavity ring-down(SCAR)technique is extended to Lambdip spectroscopy of rovibrational molecular transitions in the near-infrared region.Frequency-comb-referenced sub-Doppler saturation measurements,performed on the acetylene(ν_(1)+ν_(3)+ν_(4)←ν_(4))R(14)e line at6562 cm^(-1),are analyzed by a SCAR global line profile fitting routine,based on a specially developed theoretical model.Compared to a conventional cavity ring-down evaluation,our approach yields dip profiles with a linewidth freed from saturation broadening effects,reduced by 40%,and a signal-to-noise ratio increased by 90%.Ultimately,an overall(statistical and systematic)fractional uncertainty as low as 7×10^(-12)is achieved for the absolute line-center frequency.At the same time,our method is also able to accurately infer the linear(nonsaturated)behavior of the gas absorption,providing Lamb-dip-based line strength measurements with a relative uncertainty of 0.5%.

关键词： saturated cavity absorption