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Pleiotropy within gene variants associated with nonalcoholic fatty liver disease and traits of the hematopoietic system

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World Journal of Gastroenterology 2021年第4期27卷 305-320页

作者： carlos jose Pirola Adrian Salatino Silvia Sookoian Department of Molecular Genetics and Biology of Complex Diseases National Scientific and Technical Research Council(CONICET)University of Buenos AiresInstitute of Medical Research(IDIM)Ciudad Autónoma de Buenos Aires C1427AROArgentina Institute of Medical Research A Lanari University of Buenos AiresSchool of MedicineCiudad Autónoma de Buenos AiresCiudad Autónoma de Buenos Aires C1427AROArgentina Department of Clinical and Molecular Hepatology National Scientific and Technical Research Council(CONICET)University of Buenos AiresInstitute of Medical Research(IDIM)Ciudad Autónoma de Buenos Aires C1427AROArgentina

Genome-wide association studies of complex diseases,including nonalcoholic fatty liver disease(NAFLD),have demonstrated that a large number of variants are implicated in the susceptibility of multiple traits—a phenomenon known as pleiotropy that is increasingly being explored through phenome-wide association *** focused on the analysis of pleiotropy within variants associated with hematologic traits and *** used information retrieved from large public National Health and Nutrition Examination Surveys,Genome-wide association studies,and phenome-wide association studies based on the general population and explored whether variants associated with NAFLD also present associations with blood cell-related ***,we applied systems biology approaches to assess the potential biological connection/s between genes that predispose affected individuals to NAFLD and nonalcoholic steatohepatitis,and genes that modulate hematological-related traits—specifically platelet *** reasoned that this analysis would allow the identification of potential molecular mediators that link NAFLD with *** associated with platelet count are most highly expressed in the liver,followed by the pancreas,heart,and ***,genes associated with NAFLD presented high expression levels in the brain,lung,spleen,and *** mapping,gene prioritization,and functional analysis of the most significant loci(P<1×10-8)revealed that loci involved in the genetic modulation of platelet count presented significant enrichment in metabolic and energy balance *** conclusion,variants in genes influencing NAFLD exhibit pleiotropic associations with hematologic traits,particularly platelet ***,significant enrichment of related genes with variants influencing platelet traits was noted in metabolic-related ***,this approach yields novel mechanistic insights into NAFLD pathogenesis.

关键词： Nonalcoholic fatty liver disease Nonalcoholic steatohepatitis Platelets Leukocytes Hematologic traits Genetics

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Muscle strength deficits are associated with low bone mineral density in young pediatric cancer survivors:The iBoneFIT project

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Journal of Sport and Health Science 2024年第3期13卷 419-427页

作者： Andres Marmol-Perez jose J.Gil-Cosano Esther Ubago-Guisado Francisco J.Llorente-Cantarero Juan Francisco Pascual-Gázquez Kirsten K.Ness Vicente Martinez-Vizcaino Jonatan R.Ruiz Luis Gracia-Marco Department of Physical Education and Sports Faculty of Sport SciencesSport and Health University Research Institute(iMUDS)University of GranadaGranada 18011Spain Department of Epidemiology and Cancer Control St.Jude Children's Research HospitalMemphisTN 38105USA Department of Communication and Education Loyola University AndalusiaSeville 41704Spain Biosanitary Research Institute ibs.GranadaGranada 18012Spain Maimonides Biomedical Research Institute of Cordoba(IMIBIC) Cordoba 14004Spain CIBEROBN Biomedical Research Networking Center for Physiopathology of Obesity and NutritionCarlos III Health InstituteMadrid 28029Spain Department of Specific Didactics Faculty of EducationUniversity of CordobaCordoba 14071Spain Pediatric and adolescent hematology and oncology service Pediatrics and Pediatric Surgery Clinical Management UnitVirgen de las Nieves University HospitalGranada 18014Spain Health and Social Research Center Universidad de Castilla-La ManchaCuenca 13001Spain

Background Pediatric cancer survivors are at increased risk of muscle weakness and low areal bone mineral density(aBMD).However,the prevalence of muscle strength deficits is not well documented,and the associations of muscle strength with aBMD are unknown in this ***,this study aimed to investigate the prevalence of upper-and lower-body muscle strength deficits and to examine the associations of upper-and lower-body muscle strength with age-,sex,and race-specific aBMD Z-scores at the total body,total hip,femoral neck,and lumbar *** This cross-sectional study included 116 pediatric cancer survivors(12.1±3.3 years old,mean±SD;42.2%female).Upper-and lower-body muscle strength were assessed by handgrip and standing long jump test,***‑energy X‑ray absorptiometry was used to measure aBMD(g/cm2).Associations between muscle strength and aBMD were evaluated in multivariable linear regression *** regression was used to evaluate the contribution of muscle strength(1-decile lower)to the odds of having low aBMD(Z-score≤1.0).All analyses were adjusted for time from treatment completion,radiotherapy exposure,and body mass *** More than one-half of survivors were within the 2 lowest deciles for upper-(56.9%)and lower-body muscle strength(60.0%)in comparison to age-and sex-specific reference *** strength deficits were associated with lower aBMD Z-scores at all sites(B=0.133–0.258,p=0.001–0.032).Each 1-decile lower in upper-body muscle strength was associated with 30%–95%higher odds of having low aBMD Z-scores at all *** 1-decile lower in lower-body muscle strength was associated with 35%–70%higher odds of having low aBMD Z-scores at total body,total hip,and femoral *** Muscle strength deficits are prevalent in young pediatric cancer survivors,and such deficits are associated with lower aBMD Z-scores at all *** results suggest that interventions designed to improve muscle strength in t

关键词： Bone health Childhood cancer DXA Lean mass Resistance training

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Probing the nature of the contact between fine particles by using ultrasound propagation

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Particuology 2011年第6期9卷 659-662页

作者： Antonio Castellanos Xiaoping Jia carlos Soria-Hoyo jose Manuel Valverde Faculty of Physics University of Seville Avda. Reina Mercedes s/n 41012 Seville Spain LPMDI Universite de Marne-la-Vallee CNRS UMR 8108 Champs sur Marne France

The propagation velocity （Vs） of an ultrasonic signal through a granular material depends on the type of interparticle contact. For noncohesive glass beads, a power law behavior Vs α σc1/6 for consolidation stresses applied （σc） above 1 MPa has been measured in previous work. This equation is compatible with Hertz＇s interaction law between elastic solids. In the present work, we have tested the propagation velocity of ultrasound signals through a sample of fine powder. The tensile strength and compactivity of the powder were previously measured by means of the Seville powder tester （SPT）, indicating plastic deformation of the surface asperities in contact for small to moderate consolidation stresses. However, the measurements of ultrasound propagation at high consolidations presented here are compatible with Hertz＇s law. This finding suggests that for high consolidation stresses, surface asperities are flattened, and it is therefore the elastic deformation of the bulk of the particles that determines the transmission of ultrasonic pulses.

关键词： JFine cohesive powder Ultrasound propagation Interparticle contact

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Highly accessible aqueous synthesis of well-dispersed dendrimer type platinum nanoparticles and their catalytic applications

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Nano Research 2019年第5期12卷 1083-1092页

作者： Adrian Fernandez-Lodeiro Jamila Djafari David Lopez-Tejedor carlos Perez-Rizquez Benito Rodriguez-Gonzalez jose Luis Capelo jose M.Palomo carlos Lodeiro Javier Fernandez-Lodeiro BIOSCOPE Group LAQV@REQUIMTEChemistry DepartmentFaculty of Science and TechnologyUniversity NOVA of LisbonCaparica CampusCaparica 2829-516Portugal PROTEOMASS Scientific Society Rua dos InventoresMadan ParqueCaparica CampusCaparica 2829-516Portugal Department of Biocatalysis Institute of Catalysis(CSIC)MadridSpainMarie Curie 2CantoblancoUAM CampusMadrid 28049Spain Scientific and Technological Research Assistance Center(CACTI) University of VigoLagoas-MarcosendeVigo 36310Spain

The application of novel methodologies to the synthesis of nanomaterials is still a challenge in many different technological and scientific *** efficient and reproducible synthetic methodologies,that produce fewer residues and reduce the cost of raw materials must be *** the present work,we have explored the attractive possibility to apply the cheap iron (Ⅱ) sulphate salt in the reduction process of the K2PtCl4 to produce colloids *** synthesis took places in water and was assisted by sodium citrate (SC) using polyvinylpyrrolidone (PVP) as a *** adjustment of this novelty process allows obtaining well-dispersed and sub-20 nm dendrimer-type platinum nanoparticles (Pt D-NPs).The nano-dendrimers produced have been characterized using dynamic light scattering (DLS),transmission electron microscopy (TEM),high-resolution TEM (HR-TEM),XRD spectroscopy,inductive couple plasma (ICP) analysis,Fourier transform infrared (FT-IR) and ultraviolet-visible (UV-vis) *** conformational results derived from the size and shape will be *** application of the Pt D-NPs has been explored in the reduction of p-nitrophenol (p-NP) to p-aminophenol (p-AP) in aqueous media at room temperature obtained TOF value of 253 min^-***,our Pt D-NPs were tested as artificial metalloenzyme showing catechol oxidase activity for oxidation of L-DOPA.

关键词： platinum dendrimer NPs catalytic application green synthesis cateohol oxidase-like activity

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Warm Forged Medium Carbon V Steel

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Journal of Iron and Steel Research International 2011年第S1期18卷 822-826页

作者： carlos Garcia-Mateo Beatriz Lopez jose Maria Rodriguez-Ibabe MATERALIA Research Group.Department of Physical Metallurgy Centro Nacional de Investigaciones Metalúrgicas (CENIM-CSIC)Avda.Gregorio del Amo 8.E-28040MadridSpain CEIT and TECNUM (University of Navarra) Po Manuel de Lardizabal 15San SebastianE-20018Basque ContrySpain

Nowadays there is a continuous demand,particularly from the automotive industry,for cheaper,lighter and more reliable *** is not surprising then that steel research has been focused during the last decades in new qualities and *** paper is dealing with the use of vanadium microalloyed steels on one of those new processes,warm *** its low precipitation temperature and its recognised ability to strengthen steel microstructures via austenite grain growth control,precipitation hardening and interference of the static recrystallization process,vanadium in microalloyed steels seem to be an appropriate candidate for warm forging.

关键词： warm forging vanadium microalloyed steels

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Antiproton identification below threshold with the AMS-02 RICH detector

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Chinese Physics C 2017年第5期41卷 158-163页

作者：李紫源 carlos jose Delgado Mendez Francesca Giovacchini Sadakazu Haino Julia Hoffman School of Physics Sun Yat-Sen University Guangdong 510275 China Institute of Physics Academia Sinica Taipei 11529 China Centro de Investigaciones Energeticas Mediambientales y Tecnologicas (CIEMAT) Madrid E-28040 Spain Physics and Astronomy Department University of Hawaii Hawaii 96822 USA

The Alpha Magnetic Spectrometer（AMS-02）,which is installed on the International Space Station（ISS）,has been collecting data successfully since May *** main goals of AMS-02 are the search for cosmic anti-matter,dark matter and the precise measurement of the relative abundance of elements and isotopes in galactic cosmic *** order to identify particle properties,AMS-02 includes several specialized *** these,the AMS-02 Ring Imaging Cherenkov detector（RICH） is designed to provide a very precise measurement of the velocity and electric charge of *** describe a method to reject the dominant electron background in antiproton identification with the use of the AMS-02 RICH detector as a veto for rigidities below 3 GV.A ray tracing integration method is used to maximize the statistics of  with the lowest possible e background,providing 4 times rejection power gain for e background with respect to only 3% of  signal efficiency *** using the collected cosmic-ray data,e contamination can be well suppressed within 3% with β ≈ 1,while keeping 76% efficiency for  below the threshold.

关键词： RICH cosmic goals isotopes rejection specialized contamination maximize installed suppressed

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Common genetic variations in CLOCK transcription factor are associated with nonalcoholic fatty liver disease

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World Journal of Gastroenterology 2007年第31期13卷 4242-4248页

作者： Silvia Sookoian Gustavo Castao Carolina Gemma Tomas Fernández Gianotti carlos jose Pirola Instituto de Investigaciones Medicas A. Lanari. Universidad de Buenos Aires CONICET Combatiente de Malvinas 3150 1427-Ciudad Autonoma de Buenos Aires Argentina Consejo de Investigación GCBA Buenos Aires Argentina Consejo de Investigación GCBA Buenos Aires Argentina Instituto de Investigaciones Medicas A. Lanari. Universidad de Buenos Aires CONICET Combatiente de Malvinas 3150 1427-Ciudad Autonoma de Buenos Aires Argentina

To investigate the role of gene variants and derived haplotypes of the CLOCK transcription factor in nonalcoholic fatty liver disease （NAFID） and their relation with the disease ***： A total of 136 patients with NAFLD and 64 healthy individuals were studied. Liver biopsy was performed in 91 patients. Six tag SNPs showing a minor allele frequency 〉 10% （rs1554483 C/G; rs11932595 A/G; rs4580704 C/G; rs6843722 A/C; rs6850524 C/G and rs4864548 A/G） encompassing 117 kb of chromosome 4 and representing 115 polymorphic sites （P 〉 0.8） were genotyped. RESULTS： rs11932595 and rs6843722 showed significant associations with NAFLD （empiric P = 0.0449 and 0.023, respectively）. A significant association was also observed between clinical or histologic spectrum of NAFLD and rs1554483 （empiric P = 0.0399）, rs6843722 （empiric P = 0.0229） and rs6850524 （empiric P = 0.00899） and between fibrosis score and rs1554483 （empiric P = 0.02697）, rs6843722 （empiric P = 0.01898） and rs4864548 （empiric P = 0.02697）. Test of haplotypic association showed that CLOCK gene variant haplotypes frequencies in NAFLD individuals significantly differed from those in controls （empiric P = 0.0097）.CONCLUSION： Our study suggests a potential role of the CLOCK polymorphisms and their haplotypes insusceptibility to NAFLD and disease severity.

关键词： Circadian rhythm Circadian Iocomoter outputcycles protein kaput Gene variants Haplotypes Fattyliver Liver disease Obesity Nonalcoholic steatohepatitis

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Variable-top stem biomass equations at tree-level generated by a simultaneous density-integral system for second growth forests of roble, raulí,and coigüe in Chile

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Journal of Forestry Research 2019年第3期30卷 993-1010页

作者： carlos Valenzuela Eduardo Acuna Alicia Ortega Geronimo Quinonez-Barraza jose Corral-Rivas Jorge Cancino Departamento Manejo de Bosques y Medio Ambiente Facultad de Ciencias ForestalesUniversidad de Concepcion Victoria 631Barrio Universitario4070386 ConcepcionChile Instituto de Bosques y Sociedad Facultad de Ciencias Forestales y Recursos NaturalesUniversidad Austral de ChileCampus Isla Teja5110566 ValdiviaChile Campo Experimental Valle del Guadiana Instituto Nacional de Investigaciones Forestales Agricolas y Pecuarias (INIFAP)km 4.5 Carretera Durango-Mezquital34170 DurangoDGOMexico Instituto de Silvicultura e Industria de la Madera Universidad de Juarez del Estado de Durango34120 DurangoMexico

Variable-top stem biomass models at the tree level for second growth forests of roble (Nothofagus obliqua), rauli(Nothofagus alpina), and coigüe (Nothofagus dombeyi) were fitted by a simultaneous density-integral system, which combines a stem taper model and a wood basic density model. For each model, an autoregressive structure of order 2 and a power equation of residual variance were incorporated to reduce residual autocorrelation and heteroscedasticity, respectively. By using dummy variables in the regression analysis, zonal effects on the parameters in the variable-top stem biomass equations were detected in roble. Consequently, equations for clusters of zones were obtained. These equations presented significant parameters and a high precision in both fitting and validation processes (i.e., CV<11.5% and CVp<11.9%, respectively), demonstrating that they are unbiased. The advantage of these types of functions is that they provide estimates of volume and biomass of sections of the stem, defined between any two points of the stem in the three species. Thus, depending on the final use of the wood and the dimensions of the tree, a stem fraction can be quantified in units of volume and the remaining fraction in units of weight.

关键词： Autocorrelation Density-integral Dummy variables Autoregressive error structure Heteroscedasticity

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Water-soluble hollow nanocrystals from self-assembly of AIEEactive Pt(II)metallomesogens

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Nano Research 2021年第1期14卷 245-254页

作者： Cristian Cuerva Javier Fernandez-Lodeiro Mercedes Cano jose Luis Capelo-Martinez carlos Lodeiro BIOSCOPE Research Group LAQV@REQUIMTE Chemistry DepartmentNOVA School of Science and TechnologyNOVA University Lisbon2829-516 CaparicaPortugal PROTEOMASS Scientific Society Rua dos InventoresMadam ParqueCaparica Campus2829-516 CaparicaPortugal Department of Inorganic Chemistry Complutense University of MadridCiudad Universitaria28040 MadridSpain

Luminescent hollow micro-and nanocrystals have been successfully obtained taking advantage of the self-assembly behavior and the aggregation-induced emission enhancement properties of several bispyrazolate Pt(II)metallomesogens decorated with four terminal alkyl ***-in-water droplets have been used to confine the Pt(II)compounds and drive them to be self-assembled via intermolecular Pt…Pt interactions into spherical aggregates of about 200 or 50 *** of the oil phase generates highly-stable aqueous dispersions of nanocrystals that emit a bright orange light as a result of the existence of^(3)MMLCT excited *** methods and conditions have been tested for studying the effect of several parameters such as the temperature and the stirring speed in the final particle size and in the polydispersity ***,the micro-and nanocrystals are able to entrap hydrophobic drugs between the alkyl chains of the compounds,forming stable dispersions of drug-loaded capsules in *** droplet method is applied in the area of metallomesogens for the first time to synthesize self-assembled Pt(II)nanocapsules,which opens a new field of study that could allow the use of these liquid crystal materials in biomedical applications.

关键词： R(II)metallomesogens self-assembly luminescent nanomaterials droplets nanocapsules

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Effect of genistein supplementation of thawing medium on characteristics of frozen human spermatozoa

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Asian Journal of Andrology 2010年第3期12卷 431-441,I0012页

作者： Juan carlos Martinez-Soto Juan de DiosHourcade Alfonso Gutierrez-Adan jose Lorenzo Landeras Joaquin Gadea Department of Physiology School of Veterinary Murcia University Murcia 30100 Spain IVI- MURCIA Murcia 30007 Spain Department of Animal Reproduction INIA Madrid 28040 Spain

In this study, we evaluated the effects of genistein supplementation of the thawing extender on frozen-thawed human semen parameters. We analyzed the effect of supplementation on sperm motility, capacitation （membrane lipid disorder）, reactive oxygen species （ROS） generation, chromatin condensation and DNA damage. Using this preliminary information, it maybe possible to improve the cryopreservation process and reduce the cellular damage. We have confirmed that the isoflavone genistein （10 μmol L-1） has antioxidant properties on the frozen-thawed spermatozoa. This results in a decreased ROS production that shows a slight improvement in the sperm motility, and decreases the membrane lipid disorder and DNA damage caused by cryopreservation. These results suggest an effect of genistein on sperm functionality that could be of interest for assisted reproduction treatments using frozen- thawed human spermatozoa, but further studies will be necessary to confirm our findings and to evaluate the possible clinical applications.

关键词： antioxidants cryopreservation DNA damage genistein isoflavones sperm motility

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