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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

Neutrophil gelatinase-associated lipocalin does not predict acute kidney injury in heart failure

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World Journal of Clinical Cases 2020年第9期8卷 1600-1607页

作者： Fiorenza Ferrari Elisa Scalzotto Pasquale Esposito Sara Samoni Flavio Mistrorigo Lilia Maria Rizo Topete Massimo De Cal Grazia Maria Virzì Valentina Corradi Rossella Torregrossa roberto valle Stefania Bianzina Nadia Aspromonte Matteo Floris Alessandro Fontanelli Alessandra Brendolan Claudio Ronco Department of Nephrology Dialysis&Transplantation International Renal Research Institute VicenzaSt.Bortolo HospitalVicenza 36100Italy Department of Internal Medicine NephrologyDialysis and Transplantation ClinicsGenoa University and IRCCS Policlinico San MartinoGenova 16132Italy Department of Cardiology Coronary Intensive Care UnitSt.Bortolo HospitalVicenza 36100Italy Department of Cardiology Coronary Intensive Care UnitChioggia HospitalVenezia 36100Italy Neonatal and Pediatric Intensive Care Unit G.Gaslini InstituteGenoa 16147Italy Department of Cardiovascular and Thoracic Sciences Catholic University of the Sacred Heart Agostino Gemelli FoundationRome 00168Italy Division of Nephrology and Dialysis Azienda Ospedaliera G.BrotzuPiazzale Ricchi n°1Cagliari 09134Italy

BACKGROUND Acute cardiorenal syndrome type 1(CRS-1)is defined by a rapid cardiac dysfunction leading to acute kidney injury(AKI).Neutrophil gelatinaseassociated lipocalin(NGAL)is expressed on the surface of human neutrophils and epithelial cells,such as renal tubule cells,and its serum(sNGAL)and urinary have been used to predict AKI in different clinical *** To characterize CRS-1 in a cohort of patients with acute heart diseases,evaluating the potentiality of sNGAL as an early marker of *** We performed a retrospective cohort,multi-centre *** January 2010 to December 2011,we recruited 202 adult patients admitted to the coronary intensive care unit(CICU)with a diagnosis of acute heart failure or acute coronary *** monitored the renal function to evaluate CRS-1 development and measured sNGAL levels within 24 h and after 72 h of CICU *** Overall,enrolled patients were hemodynamically stable with a mean arterial pressure of 92(82-107)mmHg,55/202(27.2%)of the patients developed CRS-1,but none of them required *** the NGAL delta value(AUC 0.40,95%CI:0.25-0.55)nor the NGAL peak(AUC 0.45,95%CI:0.36-0.54)or NGAL cutoff(≥140 ng/mL)values were statistically significant between the two groups(CRS-1 vs no-CRS1 patients).The area under the ROC curve for the prediction of CRS-1 was 0.40(95%CI:0.25-0.55)for the delta NGAL value and 0.45(95%CI:0.36-0.54)for the NGAL peak ***,in multivariate analysis,the risk of developing CRS-1 was correlated with age>60 years,urea nitrogen at admission and 24 h-urine output(AUC 0.83,SE=60.5%SP=93%),while sNGAL was not significantly *** In our population,sNGAL does not predict CRS-1,probably as a consequence of the mild renal injury and the low severity of heart ***,these data might suggest that patient selection should be taken into account when considering the utility of NGAL measurement as a biomarker of kidney damage.

关键词： Cardiorenal syndrome type 1 Acute kidney injury Biomarker Neutrophil gelatinase-associated lipocalin

Neuroprotective effects of G9a inhibition through modulation of peroxisome-proliferator activator receptor gamma-dependent pathways by miR-128

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Neural Regeneration Research 2024年第11期19卷 2532-2542页

作者： Aina Bellver-Sanchis Pedro AAvila-López Iva Tic David valle-García Marta Ribalta-Vilella Luis Labrador Deb Ranjan Banerjee Ana Guerrero Gemma Casadesus Coralie Poulard Mercè Pallàs Christian Grinán-Ferré Department of Pharmacology and Therapeutic Chemistry Institut de Neurociències-Universitat de BarcelonaBarcelonaSpain Department of Biochemistry and Molecular Genetics Feinberg School of MedicineNorthwestern UniversityChicagoILUSA Institute of Biotechnology National Autonomous University of MexicoCuernavacaMexico Department of Pharmacology and Therapeutics Health Science Center-University of FloridaGainesvilleFLUSA Department of Chemistry National Institute of Technology DurgapurM G AvenueDurgapurWest BengalIndia Cancer Research Cancer Lyon Universitéde LyonLyonFrance Inserm U1052 Centre de Recherche en Cancérologie de LyonLyonFrance CNRS UMR5286 Centre de Recherche en Cancérlogie de LyonLyonFrance Centro de Investigación en Red Enfermedades Neurodegenerativas(CIBERNED)Instituto de Salud Carlos IIIMadridSpain Neuroimmunology Department National Institute of Neurology and Neurosurgery“Manuel Velasco Suárez”Mexico CityMexico

Dysregulation of G9a,a histone-lysine N-methyltransferase,has been observed in Alzheimer’s disease and has been correlated with increased levels of chronic inflammation and oxidative ***,microRNAs are involved in many biological processes and diseases playing a key role in pathogenesis,especially in multifactorial diseases such as Alzheimer’s ***,our aim has been to provide partial insights into the interconnection between G9a,microRNAs,oxidative stress,and *** better understand the biology of G9a,we compared the global microRNA expression between senescence-accelerated mouse-prone 8(SAMP8)control mice and SAMP8 treated with G9a inhibitor *** found a downregulation of miR-128 after a G9a inhibition treatment,which interestingly binds to the 3′untranslated region(3′-UTR)of peroxisome-proliferator activator receptor γ(PPARG)***,Pparg gene expression levels were higher in the SAMP8 group treated with G9a inhibitor than in the SAMP8 control *** also observed modulation of oxidative stress responses might be mainly driven Pparg after G9a *** confirm these antioxidant effects,we treated primary neuron cell cultures with hydrogen peroxide as an oxidative *** this setting,treatment with G9a inhibitor increases both cell survival and antioxidant ***,up-regulation of PPARγby G9a inhibitor could also increase the expression of genes involved in DNA damage responses and *** addition,we also described that the PPARγ/AMPK axis partially explains the regulation of autophagy markers ***,PPARγ/GADD45αpotentially contributes to enhancing synaptic plasticity and neurogenesis after G9a ***,we propose that pharmacological inhibition of G9a leads to a neuroprotective effect that could be due,at least in part,by the modulation of PPARγ-dependent pathways by miR-128.

关键词： aging cognitive decline epigenetics G9a inhibition microRNAs miR-128 peroxisome-proliferator activator receptorγ(PPARγ) PPARG SAMP8

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布拉德伯里工作坊综合体

世界建筑导报 2024年第2期39卷 126-128,F0003页

作者： Maegan Icke Elena Gruber Roxani Tseranidou Margherita Zompa Carolina Borgatti Ezmira Peraj Ainhoa valle French+Tye(摄影) 不详

布拉德伯里工作坊综合体建筑位于达尔斯顿吉勒特广场,现已重新向新老租户开放。新大楼涵盖600平方米经济适用工作空间的翻新、10个迷你零售单元的更换,以及在两层扩建部分中打造近500平方米的额外工作区域。布拉德伯里工作坊综合体是该... 详细信息

布拉德伯里工作坊综合体建筑位于达尔斯顿吉勒特广场,现已重新向新老租户开放。新大楼涵盖600平方米经济适用工作空间的翻新、10个迷你零售单元的更换,以及在两层扩建部分中打造近500平方米的额外工作区域。布拉德伯里工作坊综合体是该地区以社区为中心、最独特的公共空间,代表了该建筑类型发展历程的未来。

关键词：工作坊扩建部分公共空间综合体发展历程

Host preference of the bean weevil Zabrotes subfasciatus

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Insect Science 2008年第4期15卷 335-341页

作者： Isabel Ribeiro do valle Teixeira Angel roberto Barchuk Fernando Sergio Zucoloto Department of Biology Centro Universitario da Fundacao Educacional de Guaxupe Minas Gerais Department of Biology Faculdade de Filosofia Ciencias e Letras de Ribeirao Preto Universidade de Sao Paulo Sao Paulo Department of Biological Sciences Universidade Federal de Alfenas UnifaI-MG Alfenas Minas Gerais Brazil

It is largely known that the range of an insect diet is mostly determined by oviposition behavior, mainly in species with endophytic larvae such as Zabrotes subfasciatus. However, the proximate factors determining host choice and the subsequent steps leading to the expansion or reduction of the host number and occasional host shifts are largely unknown. We analyzed various factors determining host preference of Z. subfasciatus through the evaluation of：（i） oviposition preference of a wild population of Z. subfasciatus on the usual host （bean） and unusual hosts （lentil, chickpea and soy）, and the performance of the offspring; （ii） artificial selection for increasing preference for hosts initially less frequently chosen; （iii） comparison of oviposition behavior between two different populations （reared for -30 generations in beans or chickpeas, respectively）; （iv） oviposition timing on usual and unusual hosts; and （v） identification of preference hierarchies. We found that when using unusual hosts, there is no correlation between performance and preference and that the preference hierarchy changes only slightly when the population passes through several generations on the less frequently accepted host. We also found a positive response to artificial selection for increasing oviposition on the less preferred host; however, when the host-choice experiment involved two varieties of the usual host, the response was faster than when the choice involved usual and unusual hosts. Finally, beetles reared on an unusual host （chickpea） for 26 generations showed similar good fitness on both usual and unusual hosts, indicating that the use of a new host does not necessarily result in the loss of performance on the original host. Nevertheless, this population showed lower fitness on the usual host than that of the original population, suggesting an underlying partial trade-off phenomenon which may contribute to a broadening of diet of this insect species.

关键词： artificial selection evolution Phaseolus Cicer plant-insect interaction

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电动海上飞行器打造绿色出行新方式

商业周刊（中文版） 2024年第1期 29-29页

作者： Magdalenadel valle 杜然(译) 不详

在20世纪60年代的时候,苏联的工程师曾经研发出一种飞机和船的结合体,它可以贴着大海或湖泊急速飞行。他们把这种交通工具叫做ekranoplan,也就是地效飞机,它利用了气流的特性,通过把空气向下推到表面来提供额外的升力。但这种飞行器仅... 详细信息

在20世纪60年代的时候,苏联的工程师曾经研发出一种飞机和船的结合体,它可以贴着大海或湖泊急速飞行。他们把这种交通工具叫做ekranoplan,也就是地效飞机,它利用了气流的特性,通过把空气向下推到表面来提供额外的升力。但这种飞行器仅生产了几十架,而且这种设计已经不大有人记得了。

关键词：地效飞机绿色出行飞行器交通工具结合体

Complementary Methods to Acquire the Kinematics of Swimming Snakes:A Basis to Design Bio-inspired Robots

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Journal of Bionic Engineering 2023年第2期20卷 668-682页

作者： Elie Gautreau Xavier Bonnet Tom Fox Guillaume Fosseries Valéry valle Anthony Herrel Med Amine Laribi Department of GMSC University of PoitiersISAE-ENSMACNRSPPRIME UPR 3346PoitiersFrance CEBC Center for Biological Studies of Chizé CNRS and University of la RochelleVilliers en BoisFrance MNHN National Museum of Natural History CNRSParisFrance

The vast diversity of morphologies,body size,and lifestyles of snakes represents an important source of information that can be used to derive bio-inspired robots through a biology-push and pull *** understanding of the detailed kinematics of swimming snakes is a fundamental prerequisite to conceive and design bio-inspired aquatic snake ***,only limited information is available on the kinematics of swimming *** and accurate methods are needed to fill this knowledge *** the present paper,three existing methods were compared to test their capacity to characterize the kinematics of swimming snakes.(1)Marker tracking(Deftac),(2)Markerless pose estimation(DeepLabCut),and(3)Motion capture were considered.(4)We also designed and tested an automatic video processing *** methods provided different albeit complementary data sets;they also involved different technical issues in terms of experimental conditions,snake manipulation,or processing *** tracking provided accurate data that can be used to calibrate other *** capture posed technical difficulties but can provide limited 3D *** pose estimation required deep learning(thus time)but was efficient to extract the data under various experimental ***,automatic video processing was particularly efficient to extract a wide range of data useful for both biology and robotics but required a specific experimental setting.

关键词： Locomotion Image processing Motion capture Kinematic analysis Snake robot Biomimicry DeepLabCut

Ahmed glaucoma implant and augmented MicroPulse transscleral cyclophotocoagulation in a monocular Axenfeld-Rieger syndrome patient with glaucoma

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International Journal of Ophthalmology(English edition) 2022年第10期15卷 1714-1716页

作者： Sanchay Gupta Amy Yuan Marika Chachanidze David A.Solá-Del valle Harvard Medical School BostonMA 02115USA Glaucoma Service Massachusetts Eye and Ear InfirmaryBostonMA 02114USA

Dear Editor,We report the case of severe mixed-mechanism glaucoma observed in a monocular Axenfeld-Rieger syndrome(ARS) patient who was successfully managed with an ahmed glaucoma implant(AGI) followed by a novel technique described as augmented Micro Pulse transscleral cyclophotocoagulation(MP-TSCPC)[1]. ARS encompasses a heterogeneous spectrum of diseases involving anterior segment dysgenesis and systemic developmental anomalies[2].

关键词： glaucoma patient implant

Glacial biodiversity of the southernmost glaciers of the European Alps(Clapier and Peirabroc,Italy)

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Journal of Mountain Science 2022年第8期19卷 2139-2159页

作者： Barbara valle Mauro GOBBI Marta TOGNETTI Marina Serena BORGATTI Chiara COMPOSTELLA Paolo PANTINI Marco CACCIANIGA Universitàdegli Studi di Milano Department of BiosciencesVia Celoria 2620133 MilanoItaly MUSE-Science Museum of Trento Research and Museum Collections OfficeClimate and Ecology UnitCorso del Lavoro e della Scienza338122 TrentoItaly Universitàdegli Studi di Milano Dipartimento di Scienze della Terra"A.Desio"Via Mangiagalli 3420133 MilanoItaly Museo Civico di Scienze Naturali"E.Caffi" Piazza della Cittadella1024129 BergamoItaly

We applied a multi-taxa approach integrating the co-occurrence of plants,ground beetles,spiders and springtails with soil parameters(temperatures and chemical characteristics)in order to describe the primary succession along two glacier forelands in the Maritime Alps(Italy),a hotspot of Mediterranean *** compared these successions to those from Central Alps:Maritime glacier forelands markedly differ for their higher values of species richness and species *** to our expectation,Maritime glacier forelands follow a‘replacement change model’,like continental succession of Inner Alps and differently from other peripheral *** propose that the temperatures along these Mediterranean glacier forelands are warmer than those along other Alpine glacier forelands,which promote the faster species ***,we found that early and mid successional stages of the investigated glaciers are richer in cold-adapted and endemic species than the later ones:we confirmed that the‘replacement change’model disadvantages pioneer,cold-adapted *** the overall correspondence among coldadapted and endemic species,the most threatened in this climate phase,our results raise new concerns about the extinction risk of these *** also describe supraglacial habitat of Maritime glaciers demonstrating that supraglacial debris represents an environment decoupled from the regional climate and may have an important role as refugium for coldadapted and hygrophilous plant and animal species,whose survival can be threatened by climate change and by a rapid ecological succession in the adjacent forelands.

关键词： Arthropod communities Cold-adapted species Glacier forelands Plant communities Primary succession