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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

Clinical and demographic features of patients undergoing videocapsule endoscopy management:A descriptive study

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World Journal of Gastrointestinal Endoscopy 2024年第7期16卷 424-431页

作者： María C Mejía Luis G Piñeros Luis M Pombo laura A León Jenny A Velásquez Aníbal A Teherán Karen P Ayala Research Center Fundación Universitaria Juan N.CorpasBogotá111321Colombia Fundación Universitaria Juan n.Corpas Bogotá111321Colombia Department of Gastroenterology Universidad Militar Nueva GranadaBogotá111711Colombia Department of Gastroenterology Hospital Universitario Clínica San RafaelBogotá111711Colombia

BACKGROUnD Video-capsule endoscopy(VCE)is an efficient tool that has proven to be highly useful in approaching several gastrointestinal *** was implemented in Colombia in 2003,however current characterization of patients undergoing VCE in Colombia is limited,and mainly comes from two investigations conducted before the SARS-CoV-2 pandemic *** To describe the characteristics of patients undergoing VCEs and establish the main indications,findings,technical limitations,and other outstanding *** A descriptive study was carried out using data from reports of VCE(PillCam SB3 system)use in a Gastroenterology Unit in Bogotá,Colombia between September 2019 and January *** and clinical variables such as indication for the VCE,gastric and small bowel transit times(GTT,SBTT),endoscopic preparation quality,and limitations were described[n(%),median(IQR)].RESULTS A total of 133 VCE reports were *** were in men with a median age of 70 *** majority had good preparation(96.2%),and there were technical limitations in 15.8%of *** main indications were unexplained anemia(91%)or occult bleeding(23.3%).The median GTT and SBTT were 14 and 30 minutes,*** frequencies of bleeding stigma(3.79%)and active bleeding(9.09%)were low,and the most frequent abnormal findings were red spots(28.3%),erosions(17.6%),and vascular ectasias(12.5%).COnCLUSIOn VCE showed high-level *** main indication was unexplained *** bleeding was the most frequent *** with artificial intelligence,VCE can improve diagnostic precision and targeted therapeutic interventions.

关键词： Endoscopy Video-capsule endoscopy Capsule endoscopy Gastrointestinal diseases Observational study Gastrointestinal bleeding

Identific tion of quantitative trait loci and associated candidate genes for pregnancy success in Angus–Brahman crossbred heifers

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Journal of Animal Science and Biotechnology 2024年第1期15卷 162-170页

作者： Quinn A.Hoorn Gabriel A.Zayas Eduardo E.Rodriguez laura M.Jensen Raluca G.Mateescu Peter J.Hansen Department of Animal Sciences Donald Henry Barron Reproductive and Perinatal Biology Research Programand the Genetics InstituteUniversity of FloridaGainesvilleFLUSA School of Applied Systems Biology La Trobe UniversityBundooraVIC 3083Australia

Background In beef cattle, more than 50% of the energy input to produce a unit of beef is consumed by the female that produced the calf. Development of genomic tools to identify females with high genetic merit for reproductive function could increase the profitability and sustainability of beef *** Genome-wide association studies(GWAS) were performed using a single-step genomic best linear unbiased prediction approach on pregnancy outcome traits from a population of Angus–Brahman crossbred heifers. Furthermore, a validation GWAS was performed using data from another farm. Heifers were genotyped with the Bovine GGP F250 array that contains 221,077 SnPs. In the discovery population, heifers were bred in winter breeding seasons involving a single round of timed artificial insemination(AI) followed by natural mating for 3 months. Two phenotypes were analyzed: pregnancy outcome to first-service AI(PAI;n = 1,481) and pregnancy status at the end of the breeding season(PEBS;n = 1,725). The heritability was estimated as 0.149 and 0.122 for PAI and PEBS, respectively. In the PAI model, one quantitative trait locus(QTL), located between 52.3 and 52.5 Mb on BTA7, explained about 3% of the genetic variation, in a region containing a cluster of γ-protocadherin genes and SLC25A2. Other QTLs explaining between 0.5% and 1% of the genetic variation were found on BTA12 and 25. In the PEBS model, a large QTL on BTA7 was synonymous with the QTL for PAI, with minor QTLs located on BTA5, 9, 10, 11, 19, and 20. The validation population for pregnancy status at the end of the breeding season were Angus–Brahman crossbred heifers bred by natural mating. In concordance with the discovery population, the large QTL on BTA7 and QTLs on BTA10 and 12 were *** In summary, QTLs and candidate SnPs identified were associated with pregnancy outcomes in beef heifers, including a large QTL associated with a group of protocadherin genes. Confirmation of these associations

关键词： Beef cattle Fertility GWAS QTL

Optimizing ASReview Simulations:A generic Multiprocessing Solution for“Light-data'and“Heavy-data'Users

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Data Intelligence 2024年第2期6卷 320-343页

作者： Sergei Romanov Abel Soares Siqueira Jonathan de Bruin Jelle Teijema laura Hofstee Rens van de Schoot Applied Data Science Department of Information and Computing ScienceFaculty of ScienceUtrecht University netherlands eScienceCenter AmsterdamNL Department of Research and Data Management Services Information Technology ServicesUtrecht UniversityUtrechtthe Netherlands Department of Methodology and Statistics Faculty of Social and Behavioral SciencesUtrecht University

Active learning can be used for optimizing and speeding up the screening phase of systematic *** simulation studies mimicking the screening process can be used to test the performance of different machine-learning models or to study the impact of different training *** paper presents an architecture design withamultiprocessing computational strategyforrunningmanysuch simulation studiesinparallel,using the ASReview Makita workflow generator and Kubernetes software for deployment with cloud *** provide a technical explanation of the proposed cloud architecture and its *** addition to that,we conducted 1140 simulations investigating the computational time using various numbers of CPUs and RAM *** analysis demonstrates the degree to which simulations can be accelerated with multiprocessing computing *** parallel computation strategy and the architecture design that was developed in the present paper can contribute to future research with more optimal simulation time and,at the same time,ensure the safe completion of the needed processes.

关键词： Active learning Systematic review Simulation study Multiprocessing Cloud architecture

Human endogenous retrovirus type-W and multiple sclerosis–related smoldering neuroinflammation

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neural Regeneration Research 2025年第3期20卷 813-814页

作者： Joel Gruchot laura Reiche Andrew Chan Robert Hoepner Patrick Küry Department of neurology Medical Faculty and University Hospital DüsseldorfHeinrich Heine University DüsseldorfDüsseldorfGermany Department of neurology InselspitalBern University Hospital and University of BernBernSwitzerland

Introduction to human endogenous retrovirus type-W(HERV-W): Genomic inheritance from the past includes retroviral sequences that have been stably incorporated into our genomes and account for up to 8% of human DnA.

关键词： endogenous inflammation Human

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Sharing Song

小学生时代（大嘴英语） 2024年第9期 18-21页

作者： Pamela Love laura Montenegro(图) 不详

Sing a song of sharing Apples in a tree:Some for squirrels,and some for birds,And some of them for me.

关键词： some birds Apple

Association between baseline levels of muscular strength and risk of stroke in later life:The Cooper Center Longitudinal Study

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Journal of Sport and Health Science 2024年第5期13卷 642-649页

作者： Stephen W.Farrell David Leonard Qing Li Carolyn E.Barlow Kerem Shuval Jarett D.Berry Andjelka Pavlovic laura F.DeFina Research Division The Cooper InstituteDallasTX 75230USA Department of Internal Medicine University of Texas at Tyler School of MedicineTylerTX 75799USA

Background:Muscular strength is an important component of physical *** evaluated the relationship between baseline muscular strength and risk of stroke among adults who were aged≥65 years during ***:We included 7627 healthy adults(mean age=43.9 years,86.0%male)underwent a baseline physical examination between 1980 and *** strength was determined by 1-repetition maximum measures for bench press and leg press and categorized into age-and sex-specific tertiles for each *** fitness(CRF)was assessed via a maximal treadmill exercise *** enrolled in fee-for-service Medicare from 1999 to 2019 were included in the *** between baseline strength and stroke outcomes were estimated using a modified Cox proportional hazards *** a secondary analysis,we examined stroke risk by categories of CRF where Quintile 1=low,Quintiles 2-3=moderate,and Quintiles 4-5=high CRF based on age and ***:After 70,072 person-years of Medicare follow-up,there were 1211 earliest indications of incident *** multivariable analyses,the hazard ratio(95%confidence interval(95%CI))for stroke across bench press categories were 1.0(referent),0.96(0.83-1.11),and 0.89(0.77-1.04),respectively(p trend=0.14).The trend across categories of leg press was also non-significant(p trend=0.79).Adjusted hazard ratio(95%CI)for stroke across ordered CRF categories were 1.0(referent),0.90(0.71-1.13),and 0.72(0.57-0.92)(p trendnclusion:While meeting public health guidelines for muscular strengthening activities is likely to improve muscular strength as well as many health outcomes in older adults,performing such activities may not be helpful in preventing ***,meeting guidelines for aerobic activity is likely to improve CRF and lower stroke risk.

关键词： Cardiorespiratory fitness Medicare Muscular strength Stroke

Analysis of cerium substitution in Co-Sr based spinel ferrites for high frequency application

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Journal of Rare Earths 2024年第9期42卷 1755-1763,I0005页

作者： laura Khudaysh Inas A.Ahmed Syeda Rabia Ejaz Sajjad Ahmad Khan Yasir A.Haleem Mohamed M.Ibrahim Mahmood Ali Hafiz Muhammad Tahir Farid Zeinhom M.El-Bahy Department of Physics Faculty of ScienceJazan UniversityJazan45142Saudi Arabia Department of Chemistry Faculty of ScienceKing Khalid UniversityAbha62224Saudi Arabia Department of Physics The Government Sadiq College Women UniversityBahawalpur63100Pakistan Institute of Physics Khwaja Fareed University of Engineering and Information TechnologyRahim Yar Khan64200Pakistan Department of Chemistry College of ScienceTaif UniversityP.O.Box 11099Taif21944Saudi Arabia Centre of Excellence in Solid State Physics University of the PunjabLahorePakistan Department of Physics Government CollegeTaunsa Sharif32200Pakistan Department of Chemistry Faculty of ScienceAl-Azhar UniversityNasr City11884CairoEgypt

Spinel ferrites exhibit exceptional magnetic properties,making them a distinctive class of magnetic *** sol-gel technique was utilized for the synthesis of spinel ferrites with the chemical formula Co_(0.6)Sr_(0.4)Ce_(x)Fe_(2-x)O_(4). Following that,a comprehensive X-ray diffraction analysis unveiled the crystalline cubic structure of the synthesized *** the utilization of the M-H loop approach,the ferromagnetic attributes of ferrites were assessed,and the assimilation of rare earth elements led to substantial enhancements in saturation magnetization,remanence,and *** ferrites with a high concentration of rare earth elements have improved direct current resistivity and activation *** logarithm of a material's resistance increased from 5.29 to 8.12 Ω·cm as cerium is *** a change in the amount of cerium,the activation energy goes up from 0.19 to *** changing the frequency from 5.5 to 9.5 GHz,the dielectric characteristics were *** the frequency goes up,the dielectric constant goes *** ferrites that have been made better in every way can be used in high-frequency applications.

关键词： Activation energy DC electrical resistance Remanence magnetization Cobalt strontium spinel ferrites High frequency application Rare earths

Bloom-forming cyanobacteria and dinoflagellates in five Argentinian reservoirs:Multi-year sampling

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Water Biology and Security 2024年第1期3卷 28-36页

作者： Florencia Soledad Alvarez Dalinger Borja Claudia nidia Veronica laura Lozano Liliana Beatriz Morana María Monica Salusso Facultad de Ciencias naturales Universidad Nacional de SaltaAvenida Bolivia 5150Salta4400Argentina Consejo nacional de Investigaciones Científicas y T'ecnicas(COnICET) Godoy Cruz 2290Ciudad Autonoma de Buenos AiresArgentina

Harmful algal blooms are important threats to reservoir *** a 15-year period,we sampled five Argentinian reservoirs to identify the responsible species for harmful algal blooms and determine the water quality factors driving their *** reservoirs exhibit diverse morphological and hydrological characteristics and are distributed across varying climatic *** blooms included an array of species,including toxin producers such as Raphidiopsis raciborskii,Aphanizomenon gracile,and Microcystis *** contrast,dinoflagellate blooms were predominantly characterized by *** cyanobacterial blooms primarily occurred in the shallower reservoirs located in warmer regions,whereas dinoflagellate blooms occurred where temperatures were *** most intense blooms occurred during the summer,and although cyanobacterial and chlorophyte blooms co-occurred,they never coexisted with dinoflagellate *** identified cyanotoxins in the reservoirs over the past three years,a phenomenon previously unreported in the *** that these reservoirs are drinking water sources for human populations,ongoing and systematic monitoring is needed to protect public *** the proliferation of algae and cyanobacteria in reservoirs requires resource management at the watershed level,and in the case of the Itiyuro and El Limon,requires binational management with Bolivia.

关键词： HABs Freshwater South America Toxins

Brain-derived neurotrophic factor signaling in the neuromuscular junction during developmental axonal competition and synapse elimination

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neural Regeneration Research 2025年第2期20卷 394-401页

作者： Josep Tomàs Víctor Cilleros-Mañé Laia Just-Borràs Marta Balanyà-Segura Aleksandra Polishchuk laura nadal Marta Tomàs Carolina Silvera-Simón Manel M.Santafé Maria A.Lanuza Unitat d’Histologia i neurobiologia(UHneurob) Facultat de Medicina i Ciències de la SalutUniversitat Rovira i VirgiliReusSpain

During the development of the nervous system,there is an overproduction of neurons and *** competition between neighboring nerve endings and synapses performing different activity levels leads to their elimination or *** have extensively studied the involvement of the brain-derived neurotrophic factor-Tropomyosin-related kinase B receptor neurotrophic retrograde pathway,at the neuromuscular junction,in the axonal development and synapse elimination process versus the synapse *** purpose of this review is to describe the neurotrophic influence on developmental synapse elimination,in relation to other molecular pathways that we and others have found to regulate this *** particular,we summarize our published results based on transmitter release analysis and axonal counts to show the different involvement of the presynaptic acetylcholine muscarinic autoreceptors,coupled to downstream serine-threonine protein kinases A and C(PKA and PKC)and voltage-gated calcium channels,at different nerve endings in developmental *** dynamic changes that occur simultaneously in several nerve terminals and synapses converge across a postsynaptic site,influence each other,and require careful studies to individualize the mechanisms of specific *** describe an activity-dependent balance(related to the extent of transmitter release)between the presynaptic muscarinic subtypes and the neurotrophin-mediated TrkB/p75nTR pathways that can influence the timing and fate of the competitive interactions between the different axon *** downstream displacement of the PKA/PKC activity ratio to lower values,both in competing nerve terminals and at postsynaptic sites,plays a relevant role in controlling the elimination of supernumerary ***,calcium entry through L-and P/Q-subtypes of voltage-gated calcium channels(both channels are present,together with the n-type channel in developing nerve terminals)contributes to red

关键词： acetylcholine release adenosine receptors axonal competition brain-derived neurotrophic factor calcium channels motor end-plate muscarinic acetylcholine receptors postnatal synapse elimination serine kinases tropomyosin-related kinase receptorB