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Comprehensive analysis of HFE gene in hereditary hemochromatosis and in diseases associated with acquired iron overload

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World Journal of Hepatology 2019年第2期11卷 186-198页

作者： Wagner Narciso de Campos Juliana Doblas Massaro Eduardo Luiz Rachid Can?ado cláudia emília vieira wiezel Aguinaldo Luiz Sim?es Andreza Correa Teixeira Fernanda Fernandes de Souza Celso Teixeira Mendes-Junior Ana de Lourdes Candolo Martinelli Eduardo Ant?nio Donadi Division of clinical Immunology Department of MedicineRibeir?o Preto Medical SchoolUniversity of S?o Paulo Department of Gastroenterology Clinical Gastroenterology and Clinical Hepatology of Clinical HospitalUniversity of S?o Paulo School of Medicine Department of Genetics Ribeir?o Preto Medical SchoolUniversity of S?o Paulo Division of Gastroenterology Department of MedicineRibeir?o Preto Medical SchoolUniversity of S?o Paulo Departamento de Química Laboratório de Pesquisas Forenses e Gen?micasFaculdade de FilosofiaCiências e Letras de Ribeir?o PretoUniversidade de S?o Paulo

BACKGROUND Patients with hepatitis C virus(HCV) and hepatocellular carcinoma(HCC) may or not develop iron overload(IO),which is associated with worst prognosis,because can cause serious damage to *** gene controls the iron uptake from gut,particularly in patients with hereditary hemochromatosis(HH).AIM To identify associations between HFE coding region in patients exhibiting hereditary hemochromatosis and in diseases associated with acquired *** We sequenced exons 2 to 5 and boundary introns of HFE gene,evaluating all polymorphic sites in patients presenting hereditary(hemochromatosis) or acquired iron overload HCV and HCC) and in healthy controls,using Sanger *** also determined the ensemble of extended haplotype in healthy control individuals,including several major histocompatibility complex loci,using sequence specific *** reconstruction was performed using the Arlequin and Phase softwares,and linkage disequilibrium(LD) between histocompatibility loci and HFE gene was performed using the Haploview *** The HFE*003 allele was overrepresented(f = 71%) and HFE*001 allele was underrepresented(f = 14%) in HH patients compared to all groups.A strong linkage disequilibrium was observed among the H63 D-G,IVS2(+4)-C and C282 YG gene variants,particularly in HH;however,the mutation IVS2(+4)T>C was not directly associated with HH *** HFE*001/HFE*002 genotype conferred susceptibility to HCC in HCV patients exhibiting IO(P = 0.02,OR =14.14).Although HFE is telomeric to other histocompatibility genes,the H63 DG/IVS2(+4)-C(P ≤ 0.00001/P ≤ 0.0057) combination was in LD with HLA-B*44 allele group in healthy *** LD was observed between HFE alleles and other major histocompatibility *** A differential HFE association was observed for HH and for diseases associated with acquired IO(HCV,HCC).Since HFE is very distant from other histocompatibility loci,only weak associations were observed with these a

关键词： HFE gene Hepatocellular carcinoma Hepatitis C Hemochromatosis hereditary Alleles Haplotypes

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Evolutionary fingerprint, phylogenetic and forest structure of tropical montane Atlantic cloud forests along an elevation gradient

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Journal of Mountain Science 2024年第4期21卷 1259-1271页

作者： Ravi Fernandes MARIANO Vanessa Leite REZENDE cléber Rodrigo de SOUZA Patrícia vieira POMPEU Rubens Manoel dos SANTOS Carolina Njaime MENDES Aloysio Souza de MOURA Felipe Santana MACHADO Warley Augusto Caldas CARVALHO Marco Aurélio Leite FONTES Department of Forest Sciences Federal University of LavrasLavras 37200-900Brazil 2Environmental Defence Association of Minas Gerais Belo Horizonte 30360-110Brazil Department of Ecology and Conservation Federal University of LavrasLavras 37200-900Brazil Department of Forest Sciences State University of Mato Grosso do SulAquidauana 79200-000Brazil Agência Zetta Federal University of LavrasLavras 37200-900Brazil. Department of Natural Sciences Federal University of São João del-ReiSão João del-Rei 36307-352Brazil.

Environmental conditions can change markedly over geographical distances along elevation gradients,making them natural laboratories to study the processes that structure *** work aimed to assess the influences of elevation on Tropical Montane cloud Forest plant communities in the Brazilian Atlantic Forest,a historically neglected *** evaluated the phylogenetic structure,forest structure(tree basal area and tree density)and species richness along an elevation gradient,as well as the evolutionary fingerprints of elevation-success on phylogenetic lineages from the tree *** do so,we assessed nine communities along an elevation gradient from 1210 to 2310 m *** large elevation *** relationships between elevation and phylogenetic structure,forest structure and species richness were investigated through Linear *** occurrence of evolutionary fingerprint on phylogenetic lineages was investigated by quantifying the extent of phylogenetic signal of elevation-success using a genus-level molecular *** results showed decreased species richness at higher elevations and independence between forest structure,phylogenetic structure and *** also verified that there is a phylogenetic signal associated with elevation-success by *** concluded that the elevation is associated with species richness and the occurrence of phylogenetic lineages in the tree communities evaluated in Mantiqueira *** the other hand,elevation is not associated with forest structure or phylogenetic ***,closely related taxa tend to have their higher ecological success in similar ***,we highlight the fragility of the tropical montane cloud forests in the Mantiqueira Range in face of environmental changes(*** warming)due to the occurrence of exclusive phylogenetic lineages evolutionarily adapted to environmental conditions(*** temperature)associated with each elevation range.

关键词： Atlantic Forest cloud forest Conservation Community ecology Montane forests Phylogenetic diversity Phylogenetic signal

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How far have we come?Review of main public policies to reduce landslide impacts in Brazil

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Journal of Mountain Science 2024年第9期21卷 2891-2904页

作者： Bianca Carvalho vieira Tiago Damas MARTINS Telma Mendes da SILVA JoséEduardo BONINI Department of Geography University of São PauloAvenida Professor Lineu Prestes 05508-000Brazil Cities Institute Federal University of São PauloAvenida Jacu-Pêssego 08260-001Brazil Department of Geography Federal University of Rio de JaneiroAvenida Athos da Silveira Ramos 21941-916Brazil

During the rainy season in Brazil,landslides can have catastrophic consequences,including loss of life,damage to urban infrastructure and significant economic ***,more than eight million people in Brazil live in disaster-prone *** objective of this article is to present a chronological review of the principal policies and programmes at the national,state,and municipal levels,with an emphasis on their key actions aimed at mitigating the impact of disasters related to natural hazards,particularly *** analysis was based on official records of public policies from the national,state,and municipal *** results show that several initiatives were initially developed at the local and regional ***,it was not until the late 1980s that a comprehensive organisation of civil protection at the national level emerged as a response *** is possible to highlight three phases(understanding,coexistence,and prevention)of institutional action focused on risk management in the face of *** the growing knowledge of risk scenarios,disasters continue to occur in Brazil on an annual basis,revealing several obstacles to reducing their impact,particularly given the social and economic disparities between Brazilian regions and the applicability of public policies that must overcome the limitations of each municipality.

关键词： Disasters Risk Mitigation Prevention Legislation Civil Defense Natural Hazards

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Z-Score in Fetal Echocardiography–Is there Still Room for New Studies?

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Congenital Heart Disease 2024年第3期19卷 305-314页

作者： Marcio Fragoso vieira Nathalie Jeanne Bravo-Valenzuela Edward Araujo Júnior Department of Obstetrics Paulista School of MedicineFederal University of São Paulo(EPM-UNIFESP)São Paulo-SP04023-062Brazil Department of Obstetrics Federal University of Ceará(UFC)Sobral-CE60020-181Brazil Department of Pediatrics Pediatric CardiologySchool of MedicineFederal University of Rio de Janeiro(UFRJ)Rio de Janeiro-RJ21941-853Brazil

Congenital heart disease(CHD)is the most common type of birth defect,representing a significant cause of peri-natal morbidity and *** diagnosis of such anomalies is crucial for improving *** pro-tocols recommend a qualitative assessment of cardiac structures using two-dimensional ultrasound(2DUS)and color Doppler *** cases of suspected abnormalities,quantitative assessments through cardiac structure measurements and reference curves can aid in accurate *** to centiles widely employed in obste-trics,Z-scores provide more precise quantification of various cardiac structures,particularly at the extremes of the *** the development of reference curves and Z-scores has progressed over the past two decades,a lack of standardization in measurements and statistical methodology for their determination is *** reference curves requires adherence to specific recommendations to improve their *** purpose of this study is to provide a narrative review of the major studies that have generated reference values for cardiac struc-tures using 2DUS and Z-scores,to evaluate their methodology,and to provide a summary of the results.

关键词： Z-scores reference ranges fetal echocardiography

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Structural changes in the obese brain

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Neural Regeneration Research 2024年第12期19卷 2561-2562页

作者： Anna R.R.Da Conceicao Marcelo N.N.vieira Fernanda G.De Felice D’Or Institute for Research and Education Rio de JaneiroBrazil Institute of Medical Biochemistry Leopoldo De Meis Federal University of Rio de JaneiroRio de JaneiroBrazil Centre for Neuroscience Studies Department of Biomedical and Molecular Sciences&Department of PsychiatryQueen’s UniversityKingstonONCanada

Obesity represents a major global health concern,with widespread growing prevalence and severe consequences for the quality of life and life expectancy of affected individuals and for the economic burden of healthcare systems(Prospective Studies Collaboration,2009).Obesity is a well-established risk factor for a variety of conditions including metabolic,vascula r,and heart diseases,and seve ral types of cancer(Prospective Studies Collaboration,2009).

关键词： diseases consequences prevalence

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Peritoneal interposition flap reduces symptomatic lymphocele following transperitoneal robot-assisted radical prostatectomy and pelvic lymph node dissection:An updated meta-analysis

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Current Urology 2024年第3期18卷 167-176页

作者： João Henrique Sendrete de Pinho Lorrane vieira Siqueira Riscado João Padua Manzano Faculty of Medicine of the Federal University of Juiz de Fora Minas GeraisBrazil Faculty of Medicine of the Federal University of São Paulo São PauloBrazil

Background Robot-assisted radical prostatectomy with intraoperative pelvic lymph node dissection is the criterion standard for surgical treatment of nonmetastatic intermediate-and high-risk prostate ***,this method is associated with symptomatic lymphocele(SLC),which is an important morbidity *** overcome this complication,several modifications of the technique have been developed,including the peritoneal interposition flap(PIF).We performed an updated systematic review and meta-analysis to investigate the efficacy and safety of this technique for preventing SLC and lymphocele(LC)*** and methods Searches were performed using databases and references from included studies and previous systematic *** randomized controlled trials and nonrandomized cohorts were *** outcomes were the incidence of SLC and LC formation,and safety outcomes were defined as operation time,estimated blood loss,length of hospital stay,and urinary *** assessment was performed using the Newcastle-Ottawa Scale and Cochrane Collaboration's *** treatment effects were estimated using odds ratios with 95%confidence intervals(CIs)for binary *** was examined using Cochran's Q test and I2 statistics;p values25%were considered significant for *** used Mantel-Haenszel fixed-effect models in the analyses with low ***,the DerSimonian and Laird random-effects model was *** The initial search yielded 510 *** the removal of duplicate records and application of the exclusion criterion,9 studies were fully reviewed for *** randomized controlled trials and 5 retrospective cohorts met all the inclusion criteria,comprising 2261 patients,of whom 1073(47.4%)underwent *** studies reported a significant reduction in SLC in the PIF group,and 3 of the 4 studies reported LC formation yielded significant results in preventing this complication.

关键词： Robot-assisted radical prostatectomy Lymphocele Peritoneal reapproximation Peritoneal interpolated flap Meta-analysis

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Different no-till grain production systems with Urochloa *** soil microbial community structure,biomass and activity in a tropical Ultisol

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Soil Ecology Letters 2024年第1期6卷 119-129页

作者： Matheus emannuel Oliveira vieira Lucas Dantas Lopes France Mario Costa Viviane Talamini Edson Patto Pacheco Marcelo Ferreira Fernandes PPGAGRI Universidade Federal de SergipeAv.Marechal Rondons/n-49100-000-Sao CristovaoSEBrazil embrapa Coastal Tablelands Av Govemador Paulo Barreto de Menezesn°3250-49025-040-AracajuSEBrazil

Integrated grain cropping systems promote soil health(SH)and *** biomass and activity(MBA)and community structure(MCS)are key to *** of maize with Urochloa pastures strongly impacts MBA and *** is more sensitive than MCS to shifts in grain cropping *** under continuous Urochloa increased microbial activity and AMF *** soils are prone to *** of conservation agricultural practices is essential to improve soil health,which is influenced by soil *** this study we analyzed shifts in microbial biomass and activity(MBA)and microbial community structure(MCS)based on fatty acid methyl esthers(FAMEs)between five no-till agricultural practices:maize monoculture(MM);maize annualy intercropped with Urochloa decumbens(M/Ud);M/Ud with soybean rotation every other year(M/Ud-S);M/Ud keeping the pasture for the next two years(M/Ud-Ud-Ud);and maize intercropped with *** keeping the pasture for the next two years(M/Ur-Ur-Ur).Results indicated that MBA was affected by the inclusion of Urochloa intercropping and by rotation with *** under a longer residence time with Urochloa in the field had higherβ-glucosidase activity and soil basal respiration,indicating a greater microbial *** was less affected than MBA by the investigated cropping *** changed only in the continuous pasture systems,which were enriched in arbuscular mycorrhyzal fungi(AMF).Additionally,the continuous pasture systems had lower microbial stress ratios than the other agricultural *** sum,our study showed that utilization of Urochloa *** longer periods in no-till agricultural practices contributes to increase microbial activity,AMF abundance and decrease microbial stress *** changes are primarily beneficial for soil health.

关键词： crop-pasture integration crop rotation no-tillage soil health microbial ecology

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Optimization of a photovoltaic-battery system using deep reinforcement learning and load forecasting

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Energy and AI 2024年第2期16卷 168-183页

作者： António Corte Real G.Pontes Luz J.M.C.Sousa M.C.Brito S.M.vieira IDMEC Instituto Superior TécnicoUniversidade de LisboaLisboa1049-001Portugal Instituto Dom Luiz Faculdade de CiênciasUniversidade de LisboaCampo Grande1749-016LisboaPortugal

Home Energy Management Systems(HemS)are increasingly relevant for demand-side management at the residential level by collecting data(energy,weather,electricity prices)and controlling home appliances or storage *** control can be performed with classical models that find optimal solutions,with high real-time computational cost,or data-driven approaches,like Reinforcement Learning,that find good and flexible solutions,but depend on the availability of load and generation data and demand high computational resources for *** this work,a novel HemS is proposed for the optimization of an electric battery operation in a real,online and data-driven environment that integrates state-of-the-art load forecasting combining CNN and LSTM neural networks to increase the robustness of *** Reinforcement Learning agents are trained with different algorithms(Double DQN,Dueling DQN,Rainbow and Proximal Policy Optimization)in order to minimize the cost of electricity purchase and to maximize photovoltaic self-consumption for a PV-Battery residential *** show that the best Reinforcement Learning agent achieves a 35%reduction in total cost when compared with an optimization-based agent.

关键词： Energy management system Deep reinforcement learning Demand-side management Load forecasting Deep learning Energy storage systems

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Morphological traits explain the individual position within resource-consumer networks of a Neotropical marsupial

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Current Zoology 2024年第4期70卷 453-464页

作者： Nicholas F.de Camargo Hernani F.M.de Oliveira Juliana F.Ribeiro Amabilio J.A.de Camargo emerson M.vieira Laboratorio de Ecologia de Vertebrados Departamento de EcologiaInstituto de Ciencias BiologicasUniversidade de BrasiliaCP 04457BrasiliaDF70910-900Brazil Departamento de Zoologia Setor de Ciencias BiologicasUniversidade Federal do ParanaAvenida Coronel Francisco Heraclito dos Santos100CuritibaPR81531980Brazil embrapa Cerrados Rodovia BR020km 18CP 08223PlanaltinaDE73310-970Brazil

Knowledge regarding the influence of individual traits on interaction patterns in nature can help understand the topological role of individuals within a network of intrapopulation *** tested hypotheses on the relationships between individuals'positions within networks(specialization and centrality)of 4 populations of the mouse opossum Gracilinanus agilis and their traits(i.e.,body length,body condition,tail length relative to body length,sex,reproductive condition,and botfly parasitism)and also seasonal effects in the Brazilian *** with lower body length,better body condition,and relatively shorter tail were more specialized(i.e.,less connected within the network).Individuals were also more specialized and less connected during the warm-wet *** relationship between individuals'position in the network and body traits,however,was independent of *** propose that specialization may arise not only as a result of preferred feed-ing strategies by more capable individuals(i.e.,those with better body condition and potentially prone to defend and access high-quality food resources)but alsobecause of morphological ***/younger individuals(consequently with less experience in foraging)and short-tailed individuals(less skilled to explore the vertical strata of the vegetation)would feed only on a subset of the available food resources and consequently become more ***,individuals are more specialized during the warm-wet season because of high competition(population-dense period)and higher ecological opportunities(resource-rich period).Therefore,our study reveals the relevance of individual traits inshaping interactionpatternsandspecialization inpopulations.

关键词： bodytraits centrality Cerrado Gracilinanus agilis seasonality specialization.

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Effect of resistance training volume on body adiposity,metabolic risk,and inflammation in postmenopausal and older females:Systematic review and meta-analysis of randomized controlled trials

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Journal of Sport and Health Science 2024年第2期13卷 145-159页

作者： Paulo Ricardo Prado Nunes Pamela Castro-e-Souza Anselmo Alves de Oliveira Bruno de Freitas Camilo Gislaine Cristina-Souza Lucio Marques vieira-Souza Marcelo Augusto da Silva Carneiro Department of Body and Human Movement Minas Gerais State University(UEMG)37902-092 PassosMGBrazil University Center of Planalto de Araxa(UNIARAXA) 38180-129 AraxaMGBrazil Physical Activity Health and Ageing Research Group(GPASE)Minas Gerais State University(UEMG)37902-092 PassosMGBrazil Exercise and Nutrition Research Group(GPEN) Minas Gerais State University(UEMG)37902-092 PassosMGBrazil Sport Sciences and Physical Exercise Study and Research Group(GEPCEEX) Minas Gerais State University(UEMG)37902-092 PassosMGBrazil Metabolism Nutrition and Exercise LaboratoryPhysical Education and Sport CenterLondrina State University(UEL)86050-070 LondrinaPRBrazil Postgraduate Program in Physical Education Federal University of Sergipe(UFS)49107-230 Sao CristovaoSEBrazil

Purpose:This meta-analytical study aimed to explore the effects of resistance training(RT) volume on body adiposity,metabolic risk,and inflammation in postmenopausal and older ***:A systematic search was performed for randomized controlled trials in PubMed,Scopus,Web of Science,and *** controlled trials with postmenopausal and older females that compared RT effects on body adiposity,metabolic risk,and inflammation with a control group(CG) were *** reviewers selected the studies,extracted the data,and performed the risk of bias and certainty of the evidence(Grading of Recommendations,Assessment,Development,and Evaluation(GRADE)) *** body and abdominal adiposity,blood lipids,glucose,and C-reactive protein were included for meta-analysis.A random-effects model,standardized mean difference(Hedges’ g),and 95% confidence interval(95%CI) were used for ***:Twenty randomized controlled trials(overall risk of bias:some concerns;GRADE:low to very low) with overweight/obese postmenopausal and older females were *** groups were divided into low-volume RT(LVRT,~44 sets/week) and high-volume RT(HVRT,~77 sets/week).Both RT groups presented improved body adiposity,metabolic risk,and inflammation when compared to ***,HVRT demonstrated higher effect sizes than LVRT for glucose(HVRT=-1.19;95%CI:-1.63 to-0.74;LVRT=-0.78;95%CI:-1.15 to-0.41) and C-reactive protein(HVRT=-1.00;95%CI:-1.32 to-0.67;LVRT=-0.34;95%CI,-0.63 to-0.04)) when compared to ***:Compared to CG,HVRT protocols elicit greater improvements in metabolic risk and inflammation outcomes than LVRT in overweight/obese postmenopausal and older females.

关键词： C-reactive protein Fat mass Lipid profile Menopause Strength training

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