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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

Depression Intensity Classification from Tweets Using Fast Text Based Weighted Soft Voting Ensemble

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Computers, Materials & Continua 2024年第2期78卷 2047-2066页

作者： Muhammad Rizwan Muhammad Faheem Mushtaq maryam Rafiq Arif Mehmood isabel de la Torre Diez Monica Gracia Villar Helena Garay Imran Ashraf Department of Artificial Intelligence The Islamia University of BahawalpurBahawalnagar63100Pakistan Department of Information Technology Khwaja Fareed University of Engineering and ITRYKhan64200Pakistan Department of Computer Science&Information Technology The Islamia University of BahawalpurBahawalnagar63100Pakistan Department of Signal Theory and Communications and Telematic Engineering Unviersity of ValladolidPaseo de Belén 15Valladolid47011Spain Faculty of Social Science and Humanities Universidad Europea del Atlántico Isabel Torres 21Santander39011Spain Department of Project Management Universidad Internacional IberoamericanaCampeche24560México Fundación Universitaria Internacional de Colombia Bogotá111611Colombia Universidad Internacional Iberoamericana AreciboPuerto Rico00613USA Universidade Internacional do Cuanza Cuito46703Angola Department of Information and Communication Engineering Yeungnam UniversityGyeongsan38541South Korea

Predicting depression intensity from microblogs and social media posts has numerous benefits and applications,including predicting early psychological disorders and stress in individuals or the general public.A major challenge in predicting depression using social media posts is that the existing studies do not focus on predicting the intensity of depression in social media texts but rather only perform the binary classification of depression and moreover noisy data makes it difficult to predict the true depression in the social media *** study intends to begin by collecting relevant Tweets and generating a corpus of 210000 public tweets using Twitter public application programming interfaces(APIs).A strategy is devised to filter out only depression-related tweets by creating a list of relevant hashtags to reduce noise in the ***,an algorithm is developed to annotate the data into three depression classes:‘Mild,’‘Moderate,’and‘Severe,’based on International Classification of Diseases-10(ICD-10)depression diagnostic *** baseline classifiers are applied to the annotated dataset to get a preliminary idea of classification performance on the *** FastText-based model is applied and fine-tuned with different preprocessing techniques and hyperparameter tuning to produce the tuned model,which significantly increases the depression classification performance to an 84%F1 score and 90%accuracy compared to ***,a FastText-based weighted soft voting ensemble(WSVE)is proposed to boost the model’s performance by combining several other classifiers and assigning weights to individual models according to their individual *** proposed WSVE outperformed all baselines as well as FastText alone,with an F1 of 89%,5%higher than FastText alone,and an accuracy of 93%,3%higher than FastText *** proposed model better captures the contextual features of the relatively small sample class and aids in the detection of

关键词： Depression classification deep learning FastText machine learning

Morphometric Attributes of Two Native Forage Species According to Water Source Distance in Semiarid Central Grasslands of Argentina

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Phyton-International Journal of Experimental Botany 2024年第8期93卷 2063-2074页

作者： Carla Etel Suárez maría Sol Rossini Ernesto Francisco Atilio Morici Héctor Daniel Esterlich Laboratorio de Ecología en Ambientes Semiáridos Ecología VegetalFacultad de AgronomíaUNLPamSanta Rosa6300Argentina Facultad de Ciencias Veterinarias UNLPamGeneral Pico6360Argentina Becaria Doctoral CONICET APNFacultad de AgronomíaUNLPamSanta Rosa6300Argentina

The semiarid grasslands of Argentina’s central region have been modified by domestic livestock grazing,both in their composition and *** increase in the proportion of woody and non-forage species and the decrease in forage species are some of the most evident results of this *** is limited available information about the effect of differential grazing pressures on morphometric attributes of native species,and it also depends on the life histories of the species in this *** objective of this work was to evaluate some morphometric aspects in the grasses Poa ligularis Nees ex Steud and Piptochaetium napostaense(Speg.).Hack according to distance from the water source in communities in the central semiarid region of *** study area included areas of low grassland,golden forests,and secondary forests in grasslands(6 fields with 9 paddocks).Grazing pressure was established based on the distance to the water source,so sampling areas were designated near the water source(grazing pressure is greater)and far from the water source(grazing pressure light)in each of the *** both species,specimens were selected at random,and the following attributes were measured:crown diameter at ground level(cm),burial depth(cm),average tiller weight per plant(***^(−1)),and the density of tillers per unit of crown surface(***^(−2)crown).The morphometric attributes evaluated showed differences according to the distance to the watering hole and in the different *** species presented similar behaviors for the *** were significant differences in the depth of burial and the average weight of tillers per plant,being greater in the areas close to the water *** the distance to the watering hole,there were no significant differences in crown diameter and tiller density,but the highest values were recorded for the former near the watering hole and for the second far from the watering *** pastures with low

关键词： Grazing pressure tiller density tiller weight crown burial depth Poa ligularis Piptochaetium napostaense

Motivations for and barriers to innovation in non-profit organizations: The case of nursing homes in Northern Portugal

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International Journal of Innovation Studies 2024年第1期8卷 25-44页

作者： Ana Rita Gonçalves Lopes Aldina isabel de Azevedo Correia Alexandra maria da Silva Braga Center for Research and Innovation in Business Sciences and Information Systems School of Management and TechnologyPolitecnico do PortoRua do Curral-Margaride4610-156 FelgueirasPortugal

To contribute to the empirical literature on innovation in non-profit organizations,this study examines innovation in Private Social Solidarity Institutions with social responses for the elderly in Northern *** enriches the literature by clarifying the concept of innovation applied to non-profit organizations,which represents a perspective different from the business ***,it is important to support the innovation decisionmaking process in similar non-profit *** this study,the population was surveyed through questionnaires based on the PUBLIN research project,which has already been applied in different countries,and the targets were employees of organizations with social responses for the *** sample is small,with 28 respondent institutions and 51 employees,but it is representative,as it includes institutions from all districts in Northern *** study employed a quantitative approach,particularly factor analysis,multiple linear regression,and correlation analyses,using scales already applied in other dimensions of the social sector,to understand the effect of each innovation dimension/determinant on creativity and innovation in nonprofit *** results show that in these organizations with social responses for the elderly,learning orientation,risk-taking,and job satisfaction have a positive impact on innovation.

关键词： Determinants of innovation non-profit organizations social responses for the elderly Northern Portugal

Feeding Calcium Salts of Linseed Oil on Metabolic Status and Reproductive Traits in Grazing Dairy Cows

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Open Journal of Animal Sciences 2024年第3期14卷 219-233页

作者： Jesica Daniela Iorio Yaliska Moreno gonzález maria Florencia Olmeda Dino Curletto Daniel Edgardo Scandolo martin Guillermo Maciel Rafael Alejandro Palladino Mauricio Javier Giuliodori Eloy Eduardo Salado School of Agriculture of the University of Buenos Aires (FAUBA) Buenos Aires Argentina Faculty of Agricultural Sciences National University of Lomas de Zamora (UNLZ) Lomas de Zamora Argentina Rafaela Agricultural Experiment Station National Institute of Agricultural Technology (INTA) Rafaela Argentina Faculty of Veterinary Science La Plata National University (FCV) La Plata Argentina

This experiment aimed to evaluate the effect of calcium salts of linseed oil (rich in alpha-linolenic acid (ALA, C18:3n-3) on metabolic and reproductive traits in high-producing dairy cows under grazing. Thirty-six Holstein dairy cows were randomly assigned, in a complete block design, to receive ALA supplementation (0.85 kg∙day−1 of calcium salts of linseed oil) or to remain as untreated control (CON). The concentrate was formulated to offer the same amount of energy across treatments (CON cows received an extra kg of corn to compensate for the higher energy density of ALA treatment). A PMR + Alfalfa pasture was offered to all cows at the same time. A fixed time artiﬁcial insemination (FTAI) at 80 DIM, preceded by a Presynch plus Ovsynch protocol was implemented for the first service and later, on return to estrus, heat detection and artiﬁcial insemination (AI) were performed. Pregnancy diagnosis was checked at 30, 42, 60, and 90 d after AI. Blood and milk samples were taken biweekly. Treatment affected plasma cholesterol concentration (160.36 vs. 186.70 mg∙dl−1, p = 0.03, for ALA and CON, respectively) and on size of corpus luteum (CL, 17.6 vs. 13.7 mm, p = 0.02, for ALA and CON, respectively). Supplementation tended (p = 0.136) to increase conception rate by 200 DIM (81.69% vs. 55.43% in ALA and CON cows, respectively). However, treatment had no effect (p > 0.05) on body weight (BW), body condition score (BCS), and circulating levels of beta-hydroxybutyrate (BHBA), glucose, insulin, growth hormone (GH) and insulin-like growth factor (IGF-I). Our results suggest that supplementation with calcium salts of linseed oil could enhance ovarian function without affecting energy metabolism in early lactation dairy cows.

关键词： α-Linolenic Acid Supplementation Reproduction Grazing Dairy Cows

Machine learning in liver surgery:Benefits and pitfalls

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World Journal of Clinical Cases 2024年第12期12卷 2134-2137页

作者： Rafael Calleja Manuel Durán maría Dolores Ayllón Ruben Ciria Javier Briceño Hepatobiliary Surgery and Liver Transplantation Unit Hospital Universitario Reina SofíaMaimonides Biomedical Research Institute of CordobaCórdoba 14004Spain

The application of machine learning(ML)algorithms in various fields of hepatology is an issue of ***,we must be cautious with the *** this letter,based on a published ML prediction model for acute kidney injury after liver surgery,we discuss some limitations of ML models and how they may be addressed in the *** the future faces significant challenges,it also holds a great potential.

关键词： Machine learning Liver surgery Artificial intelligence Random forest Prediction model

Clinical profile and outcomes in very elderly patients with atrial fibrillation anticoagulated with rivaroxaban: data from the EMIR study

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Journal of Geriatric Cardiology 2024年第7期21卷 723-732页

作者： Francisco marín Manuel Anguita Sánchez Iñaki Lekuona marcelo Sanmartín Fernán-dez Vivencio Barrios Carlos Perez Muñoz Juan Cosín-Sales Alejandro IPérez Cabeza Vanesa Roldán Schilling Carles Rafols Priu Esteban Orenes-Piñero maría Asunción Es-teve-Pastor Department of Cardiology Hospital Clínico Universitario Virgen de la ArrixacaIMIB-ArrixacaUniversity of MurciaCIBERCVMurciaSpain Department of Cardiology Hospital Reina Sofía CórdobaIMIBICUniversity of CordobaCIBERCVCórdobaSpain Hospital Galdakao-Usansolo BizkaiaSpain Department of Cardiology Hospital Uni-versitario Ramony CajalCIBERCVMadridSpain Department of Cardiology University Hospital Ramóny CajalAl-caláUniversityMadridSpain Medical Center La Capillita Sanlúcar de Barrameda.Private cardiology clinicJerez de la FronteraSpain Department of Cardiology Hospital Arnau de VilanovaValenciaSpain Department of Car-diology Virgen de la Victoria University HospitalCIBERCV.MalagaSpain Department of Haematology Hospital Clínico Universitario Virgen de la ArrixacaUniversity of MurciaMurciaSpain Department of Medical Affairs Bayer HispaniaBarcelonaSpain Department of Biochemistry and Molecular Biology-A University of MurciaMurciaSpain

Objectives To analyze the clinical profile,adequacy of treatment with rivaroxaban and outcomes in octogenarians with atrial fibrillation(AF),taking rivaroxaban in clinical *** Observational and non-interventional study that included AF adults recruited from 79 Spanish centers,anticoagulated with rivaroxaban ≥ 6 months before being *** were analyzed according to age(≥ 80 vs.< 80 years) at *** Out of 1433 patients,453(31.6%) were octogenarians at *** to younger patients,octogenarians had more comorbidities,higher CHA2DS2-VASc(4.5 ± 1.3 vs.3.0 ± 1.4;P < 0.001) and HAS-BLED scores(2.0 ± 1.0 vs.1.4 ± 1.0;P < 0.001).Overall,the dose of rivaroxaban was adequately prescribed in 83.4% of patients,but more frequently in the younger population(71.1% vs.89.1%;P = 0.039).After a mean follow-up of 2.2 ± 0.6 years,annual rates of stroke + systemic embolism + transient ischemic attack,MACE,cardiovascular death and major bleeding were 1.03%,1.24%,1.03% and 1.75%,respectively,in octogenarian *** for progressive heart failure death and major bleeding,rates of outcomes in octogenarians were similar compared to younger *** octogenarians,the concomitant use of antiplatelet agents and non-severe dementia were independently associated with the development of ischemic stroke,whereas previous coronary revascularization and heart failure with MACE,and higher HAS-BLED score with major *** In clinical practice,around one third of patients taking rivaroxaban are *** patients have many comorbidities and a high thromboembolic *** that,rates of adverse events remain *** is adequately prescribed in the majority of octogenarians.

关键词： patients atrial bleeding

Liver disease and erythropoietic protoporphyria:A concise review

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World Journal of Gastroenterology 2010年第36期16卷 4526-4531页

作者： maría José Casanova-gonzález maría Trapero-marugán E Anthony Jones Ricardo Moreno-Otero Department of the Gastroenterology and Hepatology Hospital Universitario de la Princesa and Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas(CIBEREHD)Madrid 28006Spain

The porphyries are a group of metabolic disorders characterized by deficiencies in the activity of enzymes involved in the biosynthesis of *** erythropoietic protoporphyria(EPP),in the majority of cases an autosomal dominant disease,there is a mutation of the gene that encodes ferrochelatase(FECH).FECH deficiency is associated with increased concentrations of protoporphyrin in erythrocytes,plasma,skin and *** prevalence of this inherited disorder oscillates between 1:75 000 and 1:200 *** manifestations of EPP appear in early infancy upon first exposure to the ***,approximately 5%-20% of patients with EPP develop liver *** of protoporphyrin in the liver is associated with cholestatic phenomena and oxidative stress that predisposes to hepatobiliary disease of varying degrees of severity,such as cholelithiasis,mild parenchymal liver disease,progressive hepatocellular disease with end-stage liver disease and acute liver *** damage is the major risk in EPP patients,so surveillance and frequent clinical and biochemical liver follow-up is *** diagnostic approach consists in detecting increased levels of protoporphyrin,decreased activity of FECH and genetic analysis of the FECH gene.A variety of nonsurgical therapeutic approaches have been adopted for the management of EPP associated with liver disease,but none of these has been shown to be unequivocally ***,some may have a place in preparing patients for liver *** transplantation does not correct the constitutional deficiency of ***,there is a risk of recurrence of liver disease after liver transplantation as a result of continuing overproduction of *** authors recommend that bone marrow transplantation should be considered in liver allograft recipients to prevent recurrence of hepatic disease.

关键词： Erythropoietic protoporphyria Protoporphyrin Liver Ferrochelatase

Reuse of port industrial heritage in tourist cities:Shipyards as case studies

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Frontiers of Architectural Research 2024年第1期13卷 164-183页

作者： maría J.Andrade Eduardo Jiménez-Morales Rachel Rodríguez-Ramos Pablo martínez-Ramírez Department of Art and Architecture School of ArchitectureMalaga UniversityMalaga 29013Spain

The progressive deindustrialisation of many western cities since the 1980s has led to many industrial zones linked to port activities being abandoned or falling into *** such as Barcelona,Naples,Lisbon,Amsterdam,and Hamburg have port industrial complexes of high tangible and intangible heritage value that could totally or partially disappear,resulting in an irreparable loss of their scientific,architectural,social,technological,and historical *** that in mind,Adaptive Reuse(AR)of the built heritage allows the industrial memory of the ports to be preserved by turning them into new functional centres within the existing urban *** occurs in the context of the contemporary challenges of those cities,such as touristification,the circular economy and climate change,while guaranteeing the life cycle of those *** article analyses two case studies—the Nederlandsche Scheepsbouw Maatschappij(NDSM)and the Rotterdamsche Droogdok Maatschappij(RDM)shipyards,both in the Netherlands—in order to contribute to the knowledge of AR of Port Industrial *** are two examples of good practices in port industrial heritage interventions,where the factors behind their acclaim can be easily highlighted.A multi-scale methodology is therefore used and tailored to the case of port industrial heritage,based on analysing previous studies of the heritage in different spheres and on different scales.A relationship matrix tool is thus *** enables a comparative study to be conducted,using key variables and indicators,and considering qualitative and quantitative *** provides extensive output information for each case study,which is summarised in the most favourable factors for the success of the AR of this port industrial heritage.

关键词： Industrial heritage Port-city Adaptive reuse Best practices Circular economy HUL Touristification