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Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome

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Genes & Diseases 2024年第2期11卷 524-527页

作者： noemi Gonzalez-Abuin Tirso Pons Teresa Fuster Isabel Quintana Mariona Terradas Gemma Aiza Joan Brunet Gabriel Capellá Heather Hampel Laura Valle Hereditary Cancer Program Catalan Institute of OncologyOncobell ProgramIDIBELLHospitalet de LlobregatBarcelona 08908Spain Department of Immunology and Oncology National Center for BiotechnologySpanish National Research Council (CNB-CSIC)Madrid 28049Spain Centro de Investigación Biomédica en Red de Cáncer (CIBERONC) Madrid 28029Spain Catalan Institute of Oncology IDIBGiGirona 17007Spain Division of Clinical Cancer Genomics Department of Medical Oncology & Therapeutic ResearchCity of Hope National Cancer CenterDuarteCA 91010USA

Germline activating variants in WWP1,which encodes an E3 ubiquitin ligase that antagonizes PTEN tumor suppressive function,have been proposed as an alternative mechanism of PTEN inactivation in PTEN-hamartoma-tumor syndrome(PHTS)-like patients with wildtype PTEN.1 More specifically,heterozygous,potentially activating wwP1 variants were first identified by Lee et al in patients affected with gastrointestinal oligopolyposis,including adenomatous,hyperplastic/serrated,and hamartomatous polyps,and occasionally with colorectal cancer(Table 1).Subsequently,based on the PHTS phenotypic features,wWP1 mutational screening was performed in patients with thyroid nodules,2 or normocephalic autism spectrum disorder(ASD),3 where germline WWP1 variants were also identified(Table S1).

关键词： WWP1 gastrointestinal polyposis

Hyperphosphatemia after sodium phosphate laxatives in low risk patients:Prospective study

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World Journal of Gastroenterology 2009年第47期15卷 5960-5965页

作者： Marcela noemi Casais Guillermo Rosa-Diez Susana Pérez Elina noemi Mansilla Susana Bravo Francisco Carlos Bonofiglio Department of Anesthesia Preoperative Evaluation SectionHospital Italiano de Buenos AiresRivadavia 49659CBuenos AiresArgentina Department of Nephrology Preoperative Evaluation SectionHospital Italiano de Buenos AiresRivadavia 49659CBuenos AiresArgentina

AIM:To establish the frequency of hyperphosphate-mia following the administration of sodium phosphate laxatives in low-risk patients. METHODS:One hundred consecutive ASAⅠ-Ⅱindividuals aged 35-74 years,who were undergoing colonic cleansing with oral sodium phosphate(OSP) before colonoscopy were recruited for this prospective *** criteria:congestive heart failure, chronic kidney disease,diabetes,liver cirrhosis,intestinal obstruction,decreased bowel motility,increased bowel permeability,and *** day before colonoscopy,all the participants entered a 24-h period of diet that consisted of 4 L of clear fluids with sugar or honey and 90 mL(60 g)of OSP in two 45-mL doses,5 h *** phosphate was measured before and after the administration of the laxative. RESULTS:The main demographic data(mean±SD) were:age,58.9±8.4 years;height,163.8±8.6 cm; weight,71±13 kg;body mass index,26±4;women, 66%.Serum phosphate increased from 3.74±0.56 to 5.58±1.1 mg/dL,which surpassed the normal value (2.5-4.5 mg/dL)in 87%of the *** highest serum phosphate was 9.6 mg/*** and creatinine remained within normal ***-treatment OSP se-rum phosphate concentration correlated inversely with glomerular filtration rate(P<0.007,R 2=0.0755),total body water(P<0.001,R 2=0.156)and weight(P< 0.013,R 2=0.0635). CONCLUSION:In low-risk,well-hydrated patients, the standard dose of OSP-laxative-induced hyperphos-phatemia is related to body weight.

关键词：磷酸钠泻药风险患者血磷充血性心力衰竭肾小球滤过率结肠镜

外国品牌的货币和非货币促销活动对瑞士顾客购买意向的有效性

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外国品牌的货币和非货币促销活动对瑞士顾客购买意向的有效性

作者： Lara noemi Diener 华东师范大学

学位级别：硕士

促销活动在公司的整体营销战略中发挥着关键作用,例如增强品牌知名度、刺激消费者需求、推动销售和吸引新客户。通过提供折扣、优惠券、免费礼品和其他促销活动,公司可以激励消费者进行购买,他们原本可能不会购买的产品或服务。这对那... 详细信息

促销活动在公司的整体营销战略中发挥着关键作用,例如增强品牌知名度、刺激消费者需求、推动销售和吸引新客户。通过提供折扣、优惠券、免费礼品和其他促销活动,公司可以激励消费者进行购买,他们原本可能不会购买的产品或服务。这对那些尚未决定是否购买产品或服务的消费者来说更为明显。一个精心设计的促销活动可以大力的推动他们进行购买,增加销售的可能性并且同时提高高公司的收入。此外,促销活动还可以帮助建立客户的忠诚度,这可以为公司带来长期的利益。通过向现有客户提供独家促销活动,公司可以激励客户重复购买并培养品牌忠诚度。这最终会给公司创造客户的终身价值以及带来可持续的收入来源。对于寻求最大化营销投资回报率的公司来说,了解不同类型的促销活动以及他们对购买意向的影响至关重要。过调查研究确定对其目标受众最有效的促销活动,公司可以制定规划有针对性的营销策略,帮助提高购买意向,增加收入。这项研究分析了不同类型的促销活动(付费和免费)和不同价值(高和低)如何影响消费者的购买意向。将感知风险当作一个介体来分析感知风险,刚具体的来讲财务和业绩是如何潜在的影响不同的自变量和因变量之间的关系。此项研究是想瑞士人口发放调查问卷完成的。结果显示,促销活动确实对购买意向产生了积极的影响,且增加促销活动的价值会增加对消费者对该活动的吸引力。然而,对财务和业绩风险的感知并没有随着促销价值的增加而增加,这表明瑞士消费者的风险规避能力比之前研究过的其他国家的消费者要低。研究还发现,瑞士消费者在做出购买决定时高度重视产品的价值和质量,这表明企业应该注重展示其产品的价值,以建立客户忠诚度并提高购买意向。总的来说,这项研究为寻求制定有效策略来提高瑞士消费者购买意向的外国公司提供了有用的见解。通过了解瑞士人的需求和偏好,公司可以量身定制其营销推广和定价策略,以更好地满足这个独特市场的需求。这些研究结果也有助于不断增长的关于促销及其对消费者行为影响的研究。

关键词：促销活动货币与非货币购买意向感知风险财务风险绩效风险

2020-2021新冠疫情期间阿根廷主流媒体中的中国形象——以CLAR(?)N和P(?)GINA 12为例

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2020-2021新冠疫情期间阿根廷主流媒体中的中国形象——以CLAR(?)...

作者： VICTORIA noemi LEDESMA 北京外国语大学

学位级别：硕士

本论文通过对阿根廷两份报纸--《Clarín》和《Página 12》的网络版中与中国有关的新闻进行内容分析,探讨中国在阿根廷的国家形象表现,特别是在2020年和2021年的COVID-19大流行背景下。通过对新闻内容的分析来研究中国的国家形象并不新... 详细信息

本论文通过对阿根廷两份报纸--《Clarín》和《Página 12》的网络版中与中国有关的新闻进行内容分析,探讨中国在阿根廷的国家形象表现,特别是在2020年和2021年的COVID-19大流行背景下。通过对新闻内容的分析来研究中国的国家形象并不新鲜,然而,创新之处在于对研究国家的选择。虽然中拉关系在过去几十年里不断发展,但有关这一特定主题的研究仍然很少。因此,本论文的最终目的是为研究中国在拉美国家,特别是阿根廷的国家形象增加知识。总体目标是在大流行的框架内分析两份阿根廷报纸的网络版印刷品,以探究它们在2020年和2021年所代表的中国国家形象。具体目标是对比2020-2021年期间阿根廷报纸《Clarin》和《Página 12》对与中国有关的新闻的处理,特别关注话题在时间上的分布、其记者的背景以及新闻中引用的来源。在对不同来源的有关中国的新闻进行探讨后,起草的假设是为了反驳或证实:2020年和2021年两份阿根廷报纸印刷本的网络版上发表的与中国有关的新闻往往表现出中国的国家形象,在负面和中立之间变化不定。本论文的结构如下。第一章介绍了本论文中所涉及的研究问题的背景。中国的目标是建立一个拥有人类共同未来的社区,以及其加强与拉丁美洲关系的明确目标,这与第一部分其余部分描述的中阿关系的发展相吻合。从20世纪20年代左右建立的公司渠道,到70年代阿根廷对中国的承认,以及阿根廷加入“一带一路”倡议,这种伙伴关系变得更加牢固。本部分还强调了COVID-19期间世界所经历的特殊情况,因为它对总体背景很重要。自大流行的最初几天,阿根廷最大的交流伙伴是中华人民共和国。我从阿根廷向中国运送货物开始,随后通过中国的捐赠进行合作,并通过阿根廷购买医疗用品、两国医生之间的接触以及可能拥有正在开发的疫苗之一来继续。大流行病只会使双方的关系更加牢固,这在为庆祝中国和阿根廷建交50周年而启动的友好合作年中得到了证明。在第二章中,介绍了关键的概念和理论。首先,它介绍了文献综述,其中考虑到了与该主题在某些方面相关的研究。由于对中国在阿根廷媒体中的国家形象的分析探讨不多,所引用的文献主要是关于中国及其在世界几个国家的媒体中的表现的研究,中国在大流行中的形象,以及欧洲和美国媒体对中国的报道。在本节的最后部分,有更多关于拉美背景和中国的信息。本章第二部分首先澄清了国家形象的概念,它被定义为人们对其他国家的态度或看法,后来会影响人们的决定。本节还解释了这个概念与国际关系、公共外交研究和信息传播的联系。由于认知表征影响着全球利益相关者的行动,各国采用战略来培养一个积极的国家形象。这个行动过程是战略公共外交进入的地方,被描述为不同的国家和非国家实体用来了解其他文化、建立和管理关系、影响思想和动员行动以促进其利益和价值观的工具。而随着信息传播的出现,国家形象与媒体之间的联系也就清晰可见。媒体被认为是形成人们对其他国家形象的一个重要因素。对这种联系的解释将在第二章的其余部分展开。为了解释大众传媒在构建不同社会及其人民的形象中所发挥的关键作用,再加上记者的部分,我们引入了一个传播理论:框架理论。当应用于媒体时,框架理论指的是记者和其他传播者向公众展示新闻和其他信息的方式。本研究选择了这一理论,因为主要目标是了解有关中国的新闻的哪些方面被强调并被赋予明显的相关性,同时也关注阿根廷新闻机构文章中的来源。第三章描述了本研究中使用的方法和语料库。选择两个来源--Clarín和Página 12--有两个动机:两者都是阿根廷著名的报纸,有着非常不同的意识形态,尤其是对当前亲中国的阿根廷政府的态度。Página 12支持这个政府,而Clarin则反对这个政府。由于本研究主要是为了探索在大流行期间Clarín和Fágina 12对中国的报道中的国家形象表现,包括普遍的语气和话题,内容分析被决定为合适的方法。选择的方法是混合法,即定性和定量研究方法的结合。为了从新闻分析中获得可观察的信息,我们建立了一个编码机制,以便收集研究语料和分析单位的信息。我编写了一本编码准则,其中包括了获取数据的规则,并创建了一个表格来总结信息,主要包括以下观察指标:主题、新闻的语气、每份报纸中有关中国的新闻数量、栏目、来源(新闻机构)、记者背景和文本中的引用部分。为了回答有关记者的询问,文章的作者被记下,以便以后在网上进行职业道路搜索。第四章对研究结果进行了更详细的讨论。在对Clarín和Página 12的206份网络版印刷品进行审查后,本研究发现它们对中国的新闻报道有不同的关注点,这也转化为不同的新闻框架。尽管Clarin提到了更多的中国,但总的基调是从中性到负面(20%是正面的,40%是中性的,40%是负面的)。相比之下,Página 12提到中国的次数较少,但语气是积极的(71.4%是积极的,28.6%是

关键词：中国的国家形象内容分析阿根廷阿根廷的报纸

Laparoscopic appendectomy,stump closure and endoloops:A meta-analysis

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World Journal of Gastrointestinal Surgery 2022年第9期14卷 1060-1071页

作者： noemi Zorzetti Augusto Lauro Maria Irene Bellini Samuele Vaccari Barbara Dalla Via Maurizio Cervellera Roberto Cirocchi Salvatore Sorrenti Vito D’Andrea Valeria Tonini Department of General Surgery Ospedale Civile A CostaPorretta Terme 40046Italy Department of Surgical Sciences Sapienza UniversityRome 00161Italy Department of General Surgery Ospedale di BentivoglioBologna 40010Italy Department of Emergency Surgery St Orsola University HospitalBologna 40138Italy Department of General Surgery Ospedale Santissima AnnunziataTaranto 74121Italy Department of General Surgery Ospedale di TerniUniversitàdi PerugiaTerni 05100Italy

BACKGROUND Acute appendicitis(AA)is one of the main indications for urgent *** appendectomy(LA)has shown advantages in terms of clinical results and cost-effectiveness,even if there is still controversy about different devices to utilize,especially with regards to the endoloop(EL)vs endostapler(ES)when it comes to stump *** To compare safety and cost-effectiveness of EL vs *** From a prospectively maintained database,data of 996 consecutive patients treated by LA with a 3 years-follow up in the department of Emergency General Surgery-St Orsola University Hospital,Bologna(Italy)were retrieved.A metaanalysis was performed in terms of surgical complications,in comparison to the international literature published from 1995 to *** The meta-analysis showed no evidence regarding wound infections,abdominal abscesses,and total post-operative complications,in terms of superiority of a surgical technique for the stump closure in *** Even when AA is complicated,the routine use of EL is safe in most patients.

关键词： Acute appendicitis Laparoscopic appendectomy Endoloops Stapler Post-operative complications

Deterministic approaches for head lice infestations and treatments

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Infectious Disease Modelling 2020年第1期5卷 386-404页

作者： noemi Castelletti Maria Vittoria Barbarossa Institute of Radiation Medicine Helmholtz Zentrum MünchenIngolst€adter Landstraße 1D-85764NeuherbergGermany Institute of Applied Mathematics Heidelberg UniversityIm Neuenheimer Feld 205D-69120 HeidelbergGermany Frankfurt Institute of Advanced Studies Ruth-Moufang-Straße 1D-60438FrankfurtGermany.

Pediculus humanus capitis are human ectoparasites which cause infestations,mostly in children,*** the life cycle of head lice is an important step in knowing how to treat lice infestations,as the parasite behavior depends considerably on its age and *** this work we propose a mathematical model for head lice population dynamics in hosts who could be or not quarantined and *** a lice population structured by age and gender we formulate the model as a system of hyperbolic PDEs,which can be reduced to compartmental systems of delay or ordinary differential *** studying fundamental properties of the model,such as existence,uniqueness and nonnegativity of solutions,we show the existence of(in certain cases multiple)equilibria at which the infestation persists on the host’s *** to assess the performance of treatments against head lice infestations,by mean of computer experiments and numerical simulations we investigate four possible treatment *** main results can be summarized as follows:(i)early detection is crucial for quick and efficient eradication of lice infestations;(ii)dimeticone-based products applied every 4 days effectively remove lice in at most three applications even in case of severe infestations and(iii)minimization of the reinfection risk,*** mean of synchronized treatments in families/classrooms is recommended.

关键词： Head lice Population dynamics Differential equations Structured populations Stability analysis Delay equations

Diurnal variation of aethalometer correction factors and optical absorption assessment of nucleation events using multi-wavelength photoacoustic spectroscopy

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Journal of Environmental Sciences 2019年第9期31卷 96-109页

作者： Tibor Ajtai Gergely Kiss-Albert noemi Utry Adam Toth Andras Hoffer Gabor Szabo Zoltan Bozoki Department of Optics and Quantum Electronics University of Szeged H-6720 Szeged Hungary Hilase Development Production Service and Trading Limited Szekesfehervar H-8000 Hungary MTA-SZTE Research Group on Photoacoustic Spectroscopy H-6720 Szeged Hungary ELI-HU Non-Profit Ltd H-6720 Szeged Hungary Department of Earth and Environmental Sciences University of Pannonia P.O. Box 158 Veszprem H-8201 Hungary MTA-PE Air Chemistry Research Group P.O. Box 158 Veszprem H-8201 Hungary

A field measurement campaign was carried out during the late winter and early spring of2015 in Budapest, the capital of Hungary. The size distribution(SD) and optical absorption of carbonaceous particulate matter(CPM) was measured online using a Scanning Mobility Particle Sizer(SMPS), a 7λ-aethalometer and an inhouse developed 4λ-Photoacoustic Spectrometer. Based on the SD data, the measurement period could be classified into days with and without new particle formation events(normal days and nucleation days),although particular nucleation-like events were observed on normal days as well. Three characteristic size modes were observed with CMDs of circa 15, 25 and 110 nm that corresponded to the nucleation, traffic and heating modes. Based on the temporal behavior of these modes both types of days were divided into distinctive daily periods(heating hours,traffic hours and nucleation hours). The optical absorption spectra(OAC and AAE) also displayed the same part of day behavior to that of SD. That way this paper is among the first to assess the optical response of urban nucleation events. Due to the simultaneous measurement of OAC by the 7λ-aethalometer and a 4λ-Photoacoustic Spectrometer, OAC was measured overall at 11 wavelengths. That way aethalometer correction factors(f and C)were determined at all aethalometer wavelengths using in situ reference photoacoustic measurements. Correction factors were found to have both wavelength and time of the day variation. In the case of f, no clear trend could be observed, however, Cref values increased both as a function of wavelength.

关键词： Photoacoustic spectroscopy Aerosol Angstr?m exponent Aethalometer Nucleation Size distribution

Effect of honey in improving the gut microbial balance

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Food Quality and Safety 2017年第2期1卷 107-115页

作者： Anand Mohan Siew-Young Quek noemi Gutierrez-Maddox Yihuai Gao Quan Shu School of Chemical Sciences the University of AucklandNew Zealand School of Applied Sciences AUT UniversityAucklandNew Zealand Bioactives Research New Zealand AucklandNew Zealand

Increasing consumer emphasis on the health benefits of foods has enhanced the research focus in health promoting elements,such as probiotics,prebiotics,and *** probiotic bacterial strains,which are incorporated in various food systems,must survive unfavourable processing and gastric environments to confer the desired physiological responses in the human ***-digestible oligosaccharides are provided as fermentable prebiotic substrates to selectively modulate the gut microbial balance in favour of probiotic lactobacilli and bifidobacteria,thus improving the host metabolic *** contains oligosaccharides that can be utilized by the saccharolytic fermenters to yield beneficial metabolites that promote the prebiotic *** are numerous studies on the antimicrobial components and health effects of honey,and many have focused on the unique antibacterial activity of varieties such as ***,the possibility of the bactericidal and bacteriostatic factors in honey working synergistically with probiotics is yet to be adequately explored in the *** focus of this review is on the studies that have endeavoured to evaluate the prebiotic potential of honey,which has not been comprehensively assessed as the more established *** results in most of the reported investigations are encouraging at optimal concentrations of honey,and further research is recommended as per the defined criteria of fermentation selectivity required for the endorsement of prebiotic functionality。

关键词： function. synergistic utilized

Aggregation properties of a therapeutic peptide for rheumatoid arthritis:A spectroscopic and molecular dynamics study

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ChemPhysMater 2022年第1期1卷 62-70页

作者： Rita Cimino Marco Savioli noemi Ferrante Carrante Ernesto Placidi Hilda Garay-Perez Matilde López-Abad Alexis Musacchio Lasa Maria Del Carmen Domínguez-Horta Emanuela Gatto Francesca Cavalieri Gianfranco Bocchinfuso Mariano Venanzi PEPSA-LAB Department of Chemical Sciences and TechnologyUniversity of Rome Tor VergataVia della Ricerca Scientifica 100133RomeItaly Department of Physics University of Rome‘Sapienza’P.le A.Moro 500185 RomeItaly Centre for Genetic Engineering and Biotechnology PO Box 616210600HavanaCuba School of Science RMIT UniversityMelbourneVIC 3001Australia

The biological properties of therapeutic peptides,such as their pharmacokinetics and pharmacodynamics,are correlated with their structure and aggregation ***,we studied the aggregation properties of a therapeutic peptide(CIGB-814),currently in phase 2 clinical trial,for the treatment of rheumatoid arthritis over a wide range of concentrations(μM-mM).We applied spectroscopic techniques(fluorescence,circular dichro-ism,resonance,and dynamic light scattering),atomic force microscopy,and molecular dynamics simulations to determine the aggregation mechanism of *** found that the hierarchical aggregation of CIGB-814 at micromolar concentrations was initiated by the formation of peptide ***,the peptide oligomers trigger the nucleation and growth of peptide nanostructures(cac=123μM),ultimately leading to the fibrillization of CIGB-814(cac’=508μM).These results pave the way for a deeper understanding of the CIGB-814 therapeutic activity and may give important insights on its pharmacokinetics.

关键词： Molecular dynamics of peptide oligomers Peptide aggregation Peptide fibrils Peptide nanostructures Therapeutic peptides Treatment of rheumatoid arthritis