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Genome-wide Studies Reveal Genetic Risk Factors for Hepatic Fat Content

Genomics, Proteomics & Bioinformatics 2024年第2期22卷 57-68页

作者： Yanni Li Eline H.van den berg Alexander Kurilshikov Dasha V.Zhernakova Ranko Gacesa Shixian Hu Esteban A.Lopera-Maya Alexandra Zhernakova Lifelines Cohort Study Vincent E.de Meijer Serena Sanna Robin P.F.Dullaart Hans Blokzijl Eleonora A.M.Festen Jingyuan Fu Rinse K.weersma Department of Gastroenterology and Hepatology University of GroningenUniversity Medical Center GroningenGroningen 9713 GZThe Netherlands Department of Genetics University of GroningenUniversity Medical Center GroningenGroningen 9713 GZThe Netherlands Department of Gastroenterology and Hepatology Tianjin Medical University General HospitalTianjin Medical UniversityTianjin 300052China Laboratory of Genomic Diversity Center for Computer TechnologiesITMO UniversitySaint Petersburg 199034Russia Institute of Precision Medicine the First Affiliated HospitalSun Yat-sen UniversityGuangzhou 510080China Department of Surgery Section of Hepatobiliary Surgery and Liver TransplantationUniversity of GroningenUniversity Medical Center GroningenGroningen 9713 GZThe Netherlands Department of Endocrinology University of GroningenUniversity Medical Center GroningenGroningen 9713 GZThe Netherlands Department of Pediatrics University of GroningenUniversity Medical Center GroningenGroningen 9713 GZThe Netherlands 不详

Genetic susceptibility to metabolic associated fatty liver disease(MAFLD)is complex and poorly *** characterization of the genetic background of hepatic fat content would provide insights into disease etiology and causality of risk *** performed genome-wide association study(GwAS)on two noninvasive definitions of hepatic fat content:magnetic resonance imaging proton density fat fraction(MRI-PDFF)in 16,050 participants and fatty liver index(FLI)in 388,701 participants from the United Kingdom(UK)Biobank(UKBB).Heritability,genetic overlap,and similarity between hepatic fat content phenotypes were analyzed,and replicated in 10,398 participants from the University Medical Center Groningen(UMCG)Genetics Lifelines Initiative(UGLI).Meta-analysis of GwASs of MRI-PDFF in UKBB revealed five statistically significant loci,including two novel genomic loci harboring CREB3L1(rs72910057-T,P=5.40E−09)and GCM1(rs1491489378-T,P=3.16E−09),respectively,as well as three previously reported loci:PNPLA3,TM6SF2,and *** of FLI in UKBB identified 196 genome-wide significant loci,of which 49 were replicated in UGLI,with top signals in ZPR1(P=3.35E−13)and FTO(P=2.11E−09).Statistically significant genetic correlation(rg)between MRI-PDFF(UKBB)and FLI(UGLI)GwAS results was found(rg=0.5276,P=1.45E−03).Novel MRI-PDFF genetic signals(CREB3L1 and GCM1)were replicated in the FLI *** identified two novel genes for MRI-PDFF and 49 replicable loci for *** a difference in hepatic fat content assessment between MRI-PDFF and FLI,a substantial similar genetic architecture was *** is identified as an easy and reliable approach to study hepatic fat content at the population level.

关键词： Hepatic fat content MAFLD Genome-wide association study Fatty liver index Magnetic resonance imaging proton density fat fraction

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Management of monogenic diabetes in pregnancy:A narrative review

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world Journal of Diabetes 2024年第1期15卷 15-23页

作者： Mohammad Sadiq Jeeyavudeen Sarah R Murray Mark w J Strachan Metabolic Unit Western General HospitalEdinburgh EH42XUUnited Kingdom MRC Centre for Reproductive Health University of Edinburgh Queen’s Medical Research InstituteEdinburgh EH164TJUnited Kingdom

Pregnancy in women with monogenic diabetes is potentially complex,with significant implications for both maternal and fetal *** these,maturity-onset diabetes of the young(MODY)stands out as a prevalent monogenic diabetes subtype frequently encountered in clinical *** subtype of MODY requires a distinct approach tailored to the pregnancy,diverging from management strategies in non-pregnant *** MODY(GCK-MODY)typically does not require treatment outside of pregnancy,but special considerations arise when a woman with GCK-MODY becomes *** glycemic targets in GCK-MODY pregnancies are not exclusively dictated by the maternal/paternal MODY genotype but are also influenced by the genotype of the developing *** pregnancy,the choice between sulfonylurea or insulin for treating hepatocyte nuclear factor 1-alpha(HNF1A)-MODY and HNF4A-MODY depends on the mother’s specific circumstances and the available *** of other rarer MODY subtypes is individu-alized,with decisions made on a case-by-case ***,a collaborative approach involving expert diabetes and obstetric teams is crucial for the compre-hensive management of MODY pregnancies.

关键词： Diabetes Pregnancy Maturity-onset diabetes of the young Insulin Sulphonylurea Glucokinase Hepatocyte nuclear factor 1-alpha,hepatocyte nuclear factor 1-beta,and hepatocyte nuclear factor 4-alpha

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Exploring impacts of COVID-19 on spatial and temporal patterns of visitors to Canadian Rocky Mountain National Parks from social media big data

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Journal of Forestry Research 2024年第4期35卷 13-33页

作者： Dehui Christina Geng Amy Li Jieyu Zhang Howie w.Harshaw Christopher Gaston wanli wu Guangyu wang National Park Research Centre Faculty of ForestryUniversity of British ColumbiaVancouver V6T 1Z4Canada Faculty of Applied Science University of British ColumbiaVancouver V6T 1Z3Canada Paul G.Allen School of Computer Science&Engineering University of WashingtonSeattleWA 98195USA Faculty of Kinesiology Sportand RecreationUniversity of AlbertaEdmonton T6G 2J9Canada Department of wood Science Faculty of ForestryUniversity of British ColumbiaVancouver V6T 1Z4Canada

COVID-19 posed challenges for global tourism *** in visitor temporal and spatial patterns and their associated determinants pre-and peri-pandemic in Canadian Rocky Mountain National Parks are *** was collected through social media programming and analyzed using spatiotemporal analysis and a geographically weighted regression(GwR)*** highlight that COVID-19 significantly changed park visitation *** tended to explore more remote areas *** GwR model also indicated distance to nearby trails was a significant influence on visitor *** results indicate that the pandemic influenced tourism temporal and spatial *** research presents a novel approach using combined social media big data which can be extended to the field of tourism management,and has important implications to manage visitor patterns and to allocate resources efficiently to satisfy multiple objectives of park management.

关键词： Tourism management Social media big data National parks COVID-19 Geographical weighted regression

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Outcome prediction after resection of colorectal cancer liver metastases: out with the old, in with the new?

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Hepatobiliary Surgery and Nutrition 2024年第4期13卷 732-735页

作者： Iakovos Amygdalos Daniel Truhn Florian w.R.Vondran Department of General VisceralPediatric and Transplantation SurgeryUniversity Hospital RWTH AachenAachenGermany Department of Diagnostic and Interventional Radiology University Hospital RWTH AachenAachenGermany

Colorectal cancer remains one of the commonest and most lethal malignancies worldwide(1).Up to 80%of patients with colorectal cancer develop liver metastases(CRLM),which are the main factor limiting survival(1,2).Despite advances in systemic therapy and the emergence of multimodal treatment concepts,curative surgical resection remains the best therapeutic option and provides the highest chance of long-term survival(1,2).However,liver resection is associated with perioperative morbidity and mortality,while multiple factors affect long-term prognosis(3,4).As a result,various predictive models have been developed over time,to improve preoperative patient selection and foresee unfavourable outcomes.

关键词： Machine learning(ML) artificial intelligence(AI) colorectal liver metastases hepatobiliary

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Charge qubits based on ultra-thin topological insulator films

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Frontiers of physics 2024年第3期19卷 71-81页

作者： Kexin Zhang Hugo V.Lepage Ying Dong Crispin H.w.Barnes Research Center for Quantum Sensing Intelligent Perception Research InstituteZhejiang LabHangzhou 311121China Cavendish Laboratory Department of PhysicsUniversity of CambridgeCambridge CB30HEUnited Kingdom

we study how to use the surface states in a Bi2Se3 topological insulator ultra-thin film that are affected by finite size effects for the purpose of quantum *** demonstrate that:(i)surface states under the finite size effect can effectively form a two-level system where their energy levels lie in between the bulk energy gap and a logic qubit can be constructed,(ii)the qubit can be initialized and manipulated using electric pulses of simple forms,(iii)two-qubit entanglement is achieved through a√SwAP operation when the two qubits are in a parallel setup,and(iv)alternatively,a Floquet state can be exploited to construct a qubit and two Floquet qubits can be entangled through a Controlled-NOT *** Floquet qubit offers robustness to background noise since there is always an oscillating electric field applied,and the single qubit operations are controlled by amplitude modulation of the oscillating field,which is convenient experimentally.

关键词： topological insulator quantum computing nanodevices

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Microstructure evolution and shape memory behaviors of Ni_(47)Ti_(44)Nb_(9)alloy subjected to multistep thermomechanical loading with different prestrain levels

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Journal of Materials Science & Technology 2024年第4期171卷 80-93页

作者： Y.H.Zhang H.Li Z.w.Yang X.Liu Q.F.Gu State Key Laboratory of Solidification Processing School of Materials Science and EngineeringNorthwestern Polytechnical UniversityXi’an 710072China Shaanxi Key Laboratory of High-Performance Precision Forming Technology and Equipment Northwestern Polytechnical UniversityXi’an 710072China

Ni_(47)Ti_(44)Nb_(9)shape memory alloy(SMA)is a promising material in the aerospace field due to its wide transformation *** application of shape memory effect depends on multistep thermomechan-ical loading,viz.,low-temperature deformation and subsequent heating to ***-temperature deformation prestrain plays a pivotal role in shape memory properties tailoring of SMA ***,microstructure evolution and deformation mechanisms of Ni_(47)Ti_(44)Nb_(9)SMA subjected to vari-ous prestrain levels are still *** this end,microstructure evolution and shape memory behaviors of Ni_(47)Ti_(44)Nb_(9)alloy subjected to multistep thermomechanical loading with prestrain levels of 8%-16%at-28℃(M_(s)+30℃)were *** results demonstrate that the stress-strain curve of the specimen exhibits four distinct stages at a maximal prestrain of 16%.whereas stageⅡand stageⅢend at prestrains of∼8%and∼12%,*** stageⅡ,the stress-induced martensitic transformation is accompanied by the dislocation slip of the NiTi matrix andβ-Nb *** stageⅢ,in addition to the higher density of dislocations and further growth of stress-induced martensite variants(SIMVs),(001)compound twins are introduced as a result of the(001)deformation twinning in stress-induced ***{20-1}martensite twins are gradually introduced in stageⅣ.Correspondingly,after subsequent unloading and heating,a higher density of{114}austenite twins form in the specimen with a larger prestrain of 16%.with increasing prestrain from 8%to 16%,the recoverable strainε_(re)^(T)upon heating increases first and then ***ε_(re)^(T)obtains a maximum of 7.03%at 10%prestrain and de-creases to 6.17%at 16%*** increase ofε_(re)^(T)can be attributed to the formation of new SIMVs,the further growth of existing SIMVs,and the recoverable(001)compound *** the decrease ofε_(re)^(T)is mainly associated with the irrecoverable strain by{20−1}martensite *** effe

关键词： Ni_(47)Ti_(44)Nb_(9)shape memory alloy wide transformation hysteresis Thermomechanical loading Microstructure evolution Shape memory behaviors Stress-induced martensitic transformation Deformation twinning

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The impact of the Rural Minimum Living Standard Guarantee(Rural Dibao)Program on child nutrition outcomes

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Journal of Integrative Agriculture 2024年第2期23卷 444-456页

作者： Dian Chen Xiangming Fang Yu Chen Xiaodong Zheng Zhuo Chen Rodney B.w.Smith Academy of Global Food Economics and Policy China Agricultural UniversityBeijing 100083China School of Public Health Georgia State UniversityAtlanta 30303USA School of Economics Zhejiang Gongshang UniversityHangzhou 310018China College of Public Health University of GeorgiaAthens 30602USA Department of Applied Economics University of MinnesotaSaint Paul 55108USA

The Rural Minimum Living Standard Guarantee(Rural Dibao)is an important unconditional cash transfer program to alleviate poverty in rural *** the importance of children’s nutrition in breaking poverty cycles,little is known about the impact of Rural Dibao on child nutrition *** China Family Panel Studies(CFPS),this paper examines the effects of Rural Dibao on child nutrition outcomes and investigates potential pathways and heterogeneous *** exploit propensity score matching and difference-in-differences techniques to evaluate the effects of the Rural Dibao program on child nutrition *** results suggest that Rural Dibao significantly impacts the nutrition outcomes of children up to 15 years of ***,our results suggest that Rural Dibao improves child height-to-age z-scores by 1.05 standard deviations and lowers the probability of stunting by 11.9 percentage *** analyses suggest that increased protein intake is the main pathway through which Rural Dibao participation contributes to better nutrition *** also find that the effect of the program is more pronounced among girls,children who are non-left-behind or live with highly educated mothers,and those from low-income families and poor *** findings suggest that Rural Dibao participation helps improve child nutrition outcomes through improving diet quality.

关键词： Rural Minimum Living Standard Guarantee nutrition height-to-age z-scores stunting rural China

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Genomic Mosaicism of the Brain:Origin,Impact,and Utility

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Neuroscience Bulletin 2024年第6期40卷 759-776页

作者： Jared H.Graham Johannes C.M.Schlachetzki Xiaoxu Yang Martin w.Breuss Department of Pediatrics Section of Clinical Genetics and MetabolismUniversity of Colorado School of MedicineAurora80045-2581COUSA Department of Cellular and Molecular Medicine University of California San DiegoLa Jolla92093-0021San DiegoCAUSA Department of Neurosciences University of California San DiegoLa Jolla92093-0021San DiegoCAUSA Rady Children’s Institute for Genomic Medicine San Diego92123CAUSA

Genomic mosaicism describes the phenomenon where some but not all cells within a tissue harbor unique genetic ***,research focused on the impact of genomic mosaicism on clinical phenotype—motivated by its involvement in cancers and overgrowth *** recently,we increasingly shifted towards the plethora of neutral mosaic variants that can act as recorders of cellular lineage and environmental ***,we summarize the current state of the field of genomic mosaicism research with a special emphasis on our current understanding of this phenomenon in brain development and *** the field of genomic mosaicism has a rich history,technological advances in the last decade have changed our approaches and greatly improved our *** will provide current definitions and an overview of contemporary detection approaches for genomic ***,we will discuss the impact and utility of genomic mosaicism.

关键词： Genomics Brain development Brain homeostasis Genomic mosaicism

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Orchard Sports Injury and Illness Classification System (OSIICS) Version 15

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Journal of Sport and Health Science 2024年第4期13卷 599-604页

作者： John w.Orchard Ebonie Rio Kay M.Crossley Jessica J.Orchard Margo Mountjoy School of Public Health University of SydneySydneyNSW 2006Australia La Trobe Sport and Exercise Medicine Research Centre La Trobe UniversityMelbourneVIC 3083Australia Department of Family Medicine McMaster UniversityHamilton L8S 4L8Canada

Background:Sports medicine(injury and illnesses)requires distinct coding systems because the International Classification of Diseases is insuf-ficient for sports medicine *** Orchard Sports Injury and Illness Classification System(OSIICS)is one of two sports medicine coding systems recommended by the International Olympic *** updates of coding systems are ***:For Version 15,updates for mental health conditions in athletes,sports cardiology,concussion sub-types,infectious diseases,and skin and eye conditions were considered particularly ***:Recommended codes were added from a recent International Olympic Committee consensus statement on mental health conditions in *** landmark sports cardiology papers were used to update a more comprehensive list of sports cardiology *** union protocols on head injury assessment were used to create additional concussion ***:It is planned that OSIICS Version 15 will be translated into multiple new languages in a timely fashion to facilitate international *** large number of recently published sport-specific and discipline-specific consensus statements on athlete surveillance warrant regular updating of OSIICS.

关键词： Sports cardiology Dermatology Eye injuries Concussion Infectious diseases Sports injury classification

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Seasonal changes in Hermit Thrush (Catharus guttatus) song syntax

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Avian Research 2024年第2期15卷 172-179页

作者： Sean P.Roach Luke C.McLean Jeff w.MacLeod Leslie S.Phillmore Psychology Department University of New Brunswick Saint John100 Tucker Park RoadSaint JohnNBCanada Department of Psychology and Neuroscience Dalhousie University1355 Oxford StHalifaxNSB3H 4J1Canada

In many songbird species,birdsong features phonological syntax,meaning that the units within their vocal se-quences are ordered in a non-random way that adheres to a *** such syntactical patterns have been richly described in many species,comparatively little is known about how those patterns contribute to song achieving its important *** each of song’s main functions,territorial defense and mate attraction,evidence of a role for syntax is *** species for which syntax has been thoroughly described is the Hermit Thrush(Catharus guttatus),which presents song types from their repertoires in a semi-predictable order and,in doing so,rapidly cycle up and down the frequency *** objective of the present study was to explore the importance of song syntax in the Hermit Thrush through a within-subject examination of how measures of syntax,such as the predictability of song type order within song sequences,shift over the breeding *** hypothesized that,if such syntactical characteristics are important to breeding behaviour,they would be most prominent at the start of the breeding season when activity associated with territory establishment and mate attraction is most *** revealed that,as predicted,the rigidness of song type ordering within se-quences was highest at the start of the season and declined *** song type sequences were most predictable at the vitally important early part of the breeding season fit our hypothesis that this aspect of song syntax is important to song’s functions related to territory establishment and/or mate *** work will clarify whether that role relates to one of song’s two main functions or serves song transmission in some broader way.

关键词： Birdsong Hermit Thrush Seasonal change Stereotypy Syntax

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