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Presence of c.3956del C mutation in familial adenomatous polyposis patients from Brazil

World journal of Gastroenterology 2015年第31期21卷 9413-9419页

作者： Caroline Aquino Moreira-Nunes Diego di Felipe ávila Alcantara sérgio figueiredo lima-júnior sandro Roberto de Araújo Cavalléro juan Antonio Rey Giovanny Reboucas Pinto Paulo Pimentel de Assumpcao Rommel Rodriguez Burbano Biological science Institute Federal University of Pará Nucleus of Research in Oncology Federal University of Pará Molecular Neuro-oncogenetics Laboratory Research Unit-Unidad de InvestigaciónHospital Universitario La Paz Genetics and Molecular Biology Laboratory Federal University of Piaui

AIM: To characterize APC gene mutations and correlate them with patient phenotypes in individuals diagnosed with familial adenomatous polyposis(FAP) in northern Brazil. METHODs: A total of 15 individuals diagnosed with FAP from 5 different families from the north of Brazil were analyzed in this study. In addition to patients with histopathological diagnosis of FAP,family members who had not developed the disease were also tested in order to identify mutations and for possible genetic counseling. All analyzed patients or their guardians signed a consent form approved by the Research Ethics Committee of the jo?o de Barros Barreto University Hospital(Belem,Brazil). DNA extracted from the peripheral blood of a member of each of the affected families was subjected to direct sequencing. The proband of each family was sequenced to identify germline mutations using the Ion Torrent platform. To validate the detected mutations,sanger sequencing was also performed. The samples from all patients were also tested for the identification of mutations by real-time quantitative polymerase chain reaction using the amplification refractory mutation system. REsULTs: Through interviews with relatives and a search of medical records,it was possible to construct genograms for three of the five families included in the study. All 15 patients from the five families with FAP exhibited mutations in the APC gene,and all mutations were detected in exon 15 of the APC gene. In addition to the patients with a histological diagnosis of FAP,family members without disease symptoms showed the mutation in the APC gene. In the present study,we detected two of the three most frequent germline mutations in the literature: the mutation at codon 1309 and the mutation at codon 1061. The presence of c.3956 del C mutation was found in all families from this study,and suggests that this mutation was introduced in the population of the state of Pará through ancestor immigration(i.e.,a de novo mutation that arose

关键词： Familial adenomatous polyposis APC Torrent sequencing Colorectal cancer

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A review on the scale-up of high-shear wet granulation processes and the impact of process parameters

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Particuology 2024年第9期92卷 180-195页

作者： Ana Rita Alves Marta Filipe simões sérgio simões joão Gomes University of Coimbra CERESDepartment of Chemical EngineeringFaculty of Sciences and TechnologyRua Sílvio Lima3030-790CoimbraPortugal Bluepharma-Indústria Farmacêutica São Martinho do BispoCoimbra3045-016Portugal Faculty of Pharmacy University of CoimbraAzinhaga de Santa Comba3000-548CoimbraPortugal

Wet granulation is one of the most important agglomeration processes,and high-shear granulation(HsG)one of the most employed technologies in the pharmaceutical *** most critical process parameters of HsG are discussed in this *** main concern in scaling up the wet granulation process is the differences between scales,which prevent the particles from having the same experience across all *** scale-up of wet granulation processes is commonly divided into two categories:engineering and attribute-based *** engineering-based scale-up approach is a strategy based on dimensional analysis and an attribute-based supported on the principles of“equifinality”,where process variables are adjusted to obtain equivalent granule *** work presents the effect of different HsG process parameters on the scale-up,as well as the use of process analytical tools(PAT)and modelling *** aim is to review applied scale-up approaches in HsG and discuss benefits and *** is proven why the scale-up for oral solid pharmaceutical products is still considered a hot topic and a very challenging task for development and engineering teams.

关键词： High-shear wetgranulation Parametric-based Attribute-based Physics-based modelling Impeller design scale-up

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stochastic seismic inversion and Bayesian facies classification applied to porosity modeling and igneous rock identification

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Petroleum science 2024年第2期21卷 918-935页

作者： Fábio júnior Damasceno Fernandes Leonardo Teixeira Antonio Fernando Menezes Freire Wagner Moreira Lupinacci Exploratory Interpretation and Reservoir Characterization Group(GIECAR) Department of Geology and GeophysicsFederal Fluminense UniversityNiter oiRJ24210-346Brazil Petrobras Rio de JaneiroRJ20231-030Brazil National Institute of science and Technology of Petroleum Geophysics(INCT-GP/CNPQ) Niter oiRJ24210-346Brazil

We apply stochastic seismic inversion and Bayesian facies classification for porosity modeling and igneous rock identification in the presalt interval of the santos Basin. This integration of seismic and well-derived information enhances reservoir characterization. stochastic inversion and Bayesian classification are powerful tools because they permit addressing the uncertainties in the model. We used the Es-MDA algorithm to achieve the realizations equivalent to the percentiles P10, P50, and P90 of acoustic impedance, a novel method for acoustic inversion in presalt. The facies were divided into five: reservoir 1,reservoir 2, tight carbonates, clayey rocks, and igneous rocks. To deal with the overlaps in acoustic impedance values of facies, we included geological information using a priori probability, indicating that structural highs are reservoir-dominated. To illustrate our approach, we conducted porosity modeling using facies-related rock-physics models for rock-physics inversion in an area with a well drilled in a coquina bank and evaluated the thickness and extension of an igneous intrusion near the carbonate-salt interface. The modeled porosity and the classified seismic facies are in good agreement with the ones observed in the wells. Notably, the coquinas bank presents an improvement in the porosity towards the top. The a priori probability model was crucial for limiting the clayey rocks to the structural lows. In Well B, the hit rate of the igneous rock in the three scenarios is higher than 60%, showing an excellent thickness-prediction capability.

关键词： stochastic inversion Bayesian classification Porosity modeling Carbonate reservoirs Igneous rocks

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The effect of abiotic stresses on plant C:N:P homeostasis and their mitigation by silicon

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The Crop journal 2024年第2期12卷 340-353页

作者： Milton Garcia Costa Renato de Mello Prado Luiz Fabiano Palaretti jonas Pereira de souza júnior Department of Agricultural Production science School of Agricultural and Veterinarian SciencesSão Paulo State UniversityJaboticabalBrazil

In crop plants, various environmental stresses affect the balance of carbon, nitrogen, and phosphorus(C:N:P), leading to biochemical and physiological alterations and reductions in yield. silicon(si) is a beneficial element that alleviates plant stress. Most studies involving silicon have focused on physiological responses, such as improvements in photosynthetic processes, water use efficiency, and antioxidant defense systems. But recent research suggests that stressed plants facing either limited or excessive resources(water, light, nutrients, and toxic elements), strategically employ si to maintain C:N:P homeostasis, thereby minimizing biomass losses. Understanding the role of si in mitigating the impact of abiotic stresses on plants by regulating C:N:P homeostasis holds great potential for advancing sustainable agricultural practices in crop production. This review presents recent advances in characterizing the influence of environmental stresses on C:N:P homeostasis, as well as the role of si in preserving C:N:P equilibrium and attenuating biological damage associated with abiotic stress. It underscores the beneficial effects of si in sustaining C:N:P homeostasis and increasing yield via improved nutritional efficiency and stress mitigation.

关键词： Nutritional stoichiometry Elemental stoichiometry Beneficial element Environmental stresses Nutritional efficiency Carbon use efficiency Agricultural sustainability

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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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Investigation and optimization of high-valent Ta-doped srFeO_(3-δ)as air electrode for intermediate-temperature solid oxide fuel cells

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International journal of Minerals,Metallurgy and Materials 2024年第9期31卷 2102-2109页

作者： shanshan jiang Hao Qiu shaohua Xu Xiaomin Xu jingjing jiang Beibei Xiao Paulo sérgio Barros juliao) Chao su Daifen Chen Wei Zhou school of Energy and Power Jiangsu University of Science and TechnologyZhenjiang 212100China WA school of Mines:Minerals Energy and Chemical EngineeringCurtin UniversityPerth WA6102Australia Institute of Analysis and Testing Beijing Academy of Science and TechnologyBeijing 100089China state Key Laboratory of Materials-Oriented Chemical Engineering College of Chemical EngineeringNanjing Tech UniversityNanjing 211816China

To explore highly active and thermomechanical stable air electrodes for intermediate-temperature solid oxide fuel cells(ITsOFCs),10mol%Ta5+doped in the B site of strontium ferrite perovskite oxide(srTa_(0.1)Fe_(0.9)O_(3-δ),sTF)is investigated and *** effects of Ta^(5+)doping on structure,transition metal reduction,oxygen nonstoichiometry,thermal expansion,and electrical performance are evaluated *** 10mol%Ta^(5+)doping,the thermal expansion coefficient(TEC)decreased from 34.1×10^(-6)(srFeO_(3-δ))to 14.6×10^(-6) K^(-1)(sTF),which is near the TEC of electrolyte(13.3×10^(-6) K^(-1) for sm_(0.2)Ce_(0.8)O_(1.9),sDC),indicates excellent thermomechanical *** 550-750℃,sTF shows superior oxygen vacancy concentrations(0.262 to 0.331),which is critical in the oxygen-reduction reaction(ORR).Oxygen temperature-programmed desorption(O_(2)-TPD)indicated the thermal reduction onset temperature of iron ion is around 420℃,which matched well with the inflection points on the thermos-gravimetric analysis and electrical conductivity *** 600℃,the sTF electrode shows area-specific resistance(AsR)of 0.152Ω·cm^(2) and peak power density(PPD)of 749 mW·cm^(-2).ORR activity of sTF was further improved by introducing 30wt%sm_(0.2)Ce_(0.8)O_(1.9)(sDC)powder,sTF+sDC composite cathode achieving outstanding AsR value of 0.115Ω·cm2 at 600℃,even comparable with benchmark cobalt-containing cathode,Ba_(0.5)sr_(0.5)Co_(0.8)Fe_(0.2)O_(3-δ)(BsCF).Distribution of relaxation time(DRT)analysis revealed that the oxygen surface exchange and bulk diffusion were improved by forming a composite *** 650℃,sTF+sDC composite cathode achieving an outstanding PPD of 1117 mW·cm^(-2).The excellent results suggest that sTF and sTF+sDC are promising air electrodes for IT-sOFCs.

关键词： strontium ferrite-based perovskite Ta doping composite cathode intermediate-temperature solid oxide fuel cells

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Determining the effective elastic thickness through cross-correlation between isostatic disturbances

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Geodesy and Geodynamics 2024年第3期15卷 241-251页

作者： Nelson Ribeiro-Filho Cristiano Mendel Martins Raissa Moraes Baldez Ivaldevingles Rodrigues de souza júnior Franck Eitel Kemgang Ghomsi Instituto Federal do Pará(IFPA) AltamiraParáBrazil Universidade Federal do Pará(UFPA) BelemParáBrazil Nansen-Tutu Center for Marine Environmental Research Department of OceanographyUniversity of Cape TownSouth Africa Geodesy Research Laboratory National Institute of CartographyYaoundeCameroon

The elastic thickness parameter was estimated using the mobile correlation technique between the observed isostatic disturbance and the gravity disturbance calculated through direct gravimetric modeling. We computed the vertical flexure value of the crust for a specific elastic thickness using a given topographic dataset. The gravity disturbance due to the topography was determined after the calculation. A grid of values for the elastic thickness parameter was generated. Then, a moving correlation was performed between the observed gravity data(representing actual surface data) and the calculated data from the forward modeling. The optimum elastic thickness of the particular point corresponded to the highest correlation coefficient. The methodology was tested on synthetic data and showed that the synthetic depth closely matched the original depth, including the elastic thickness value. To validate the results, the described procedure was applied to a real dataset from the Barreirinhas Basin, situated in the northeastern region of Brazil. The results show that the obtained crustal depth is highly correlated with the depth from known models. Additionally, we noted that the elastic thickness behaves as expected, decreasing from the continent towards the ocean. Based on the results, this method has the potential to be employed as a direct estimate of crustal depth and elastic thickness for any region.

关键词： Isostasy Elastic thickness Isostatic disturbance Moho depth Cross-correlation

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supercritical fluid technology as a sustainable alternative method for textile dyeing:An approach on waste,energy,and CO_(2)emission reduction

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journal of Environmental sciences 2024年第6期140卷 123-145页

作者： Carlos Rafael silva de Oliveira Patrícia Viera de Oliveira Leandro Pellenz Catia Rosana Lange de Aguiar Afonso Henrique da silva júnior Federal University of santa Catarina Textile Engineering Department2514 João Pessoa St.BlumenauSC89036-004Brazil Federal University of santa Catarina Chemical Engineering DepartmentS/n Biotério Central St.FlorianópolisSC88040-900Brazil

The clothing industry is considered one of the most polluting industries on the planet due to the high consumption of water,energy,chemicals/dyes,and high generation of solid waste and *** with environmental concerns,the textile ennoblement sector is the most critical of the textile production chain,especially the traditional dyeing *** an alternative to current problems,dyeing with supercritical CO_(2)(scCO_(2))has been presented as a clean and efficient process for a sustainable textile *** fluid dyeing(sFD)has shown a growing interest due to its significant impact on environmental preservation and social,economic,and financial *** main sFD benefits include economy and reuse of non-adsorbed dyes;reduction of process time and energy expenditure;capture of atmospheric CO_(2)(greenhouse gas);use and recycling of CO_(2)in sFD;generation of carbon credits;water-free process;effluent-free process;reduction of CO_(2)emission and auxiliary *** being still a non-scalable and evolving technology,sFD is the future of *** review presented a comprehensive overview of the environmental impacts caused by traditional processes and confronted the advantages of *** sFD technique was introduced,along with its latest advances and future *** and environmental gains were also discussed.

关键词： Textile industry supercritical dyeing sustainable processes Water free dyeing Energy saving Cleaner production

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Effect of radiative loss mechanisms on FIR thermometric parameters of Nd^(3+)-doped lithium tellurite glasses

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journal of Rare Earths 2024年第7期42卷 1250-1257,I0002页

作者： C.Y.Morassuti A.P.L silva L.A.O.Nunes s.M.lima L.H.C.Andrade Optical and Photothermal spectroscopy Group(GEOF) Center for Studies in Natural Resources(CERNA)State University of Mato Grosso do Sul(UEMS)C.P.351DouradosMSBrazil Renato Archer Information Technology Center Dom Pedro I Highway(SP-65)Km 1436-Chácaras Campos dos AmaraisCampinasSPBrazil Institute of Physics of são Carlos University of São PauloSão CarlosSPBrazil

Nd^(3+)-doped tellurite glasses are promising materials for thermometers based on the fluorescence intensity ratio(FIR)***,at high Nd^(3+)concentrations,energy transfer(ET)processes such as optical reabsorption and cross-relaxation can affect the Nd^(3+)emission,which has been little explored in the ***,the present work investigated the use of Nd^(3+)-doped tellurite glass(samples doped with Nd^(3+)at 0.2 mol%,0.5 mol%,2.0 mol%,and 4.0 mol%)in fluorescence thermometers,in the temperature range from 299 to 371 *** results indicate a strong dependence of the FIR parameters on the Nd^(3+)concentration,due to changes in the emission band profiles caused by optical reabsorption of the Nd^(3+)emissions and cross-relaxation processes.A decrease of the relative sensitivity of the ratio^(4)F_(5/2)→^(4)I_(9/2)/^(4)F_(3/2)→^(4)I_(9/2)is observed for samples doped with higher amounts of Nd^(3+).The maximum relative sensitivity at 299 K is 3.00%/K,which is the highest value among the reported Nd^(3+)ions.

关键词： Nd^(3+)-doped tellurite glass Fluorescence intensity ratio Optical thermometry judd-Ofelt Rare earths

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Identity(ies)and Transnationalization of Brazilian Evangelical Churches in Portugal:Case study of World Cathedral of Hope and Victory in Christ Churches

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Cultural and Religious studies 2024年第3期12卷 133-145页

作者： jonas Pereira de Oliveira júnior University of Porto PortoPortugal

The presence of evangelicals in Brazil is a social and religious phenomenon that has aroused interest of many scholars due to its rapid and significant expansion in recent decades and its projection beyond national *** evangelical denominations that stand out in this scenario are Pentecostal churches,which have developed intense missionary activity in several countries,including *** this article,we intend to analyze features and challenges of Brazilian evangelical churches:World Cathedral of Hope(CIME)(Catedral Mundial da Esperança-ICME)and Assembly of God Victory in Christ(ADVEC)(Assembleia de Deus Vitória em Cristo-ADVEC)that operate in Portugal,seeking to understand issues of identity and belonging of these communities,their models of transnationalization,its evangelization strategies and its adaptations to Portuguese context,in the period from 2000 to 2020.

关键词： identity transnationalization secularization Brazilian migration

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