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Wilson's disease in two siblings from Ecuador:Two case reports

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World Journal of Clinical Cases 2025年第3期13卷 50-60页

作者： enrique Carrera Jonathan Alvarado Martina Astudillo Galo Pillajo Department of Gastroenterology and Hepatology Hospital de Especialidades Eugenio EspejoQuito 170136PichinchaEcuador Faculty of Medicine Pontificia Universidad Catolica del EcuadorQuito 170143PichinchaEcuador Department of Radiology Hospital de Especialidades Eugenio EspejoQuito 170136PichinchaEcuador

BACKGRoUND Wilson's disease(WD)is a rare metabolic disorder of copper accumulation in organs such as liver,brain,and *** and treatments are challenging in settings,where advanced diagnostic tests are unavailable,copper chelating agents are frequently scarce,healthcare professionals lack disease awareness,and medical follow-ups are *** diagnoses and treatments help prevent complications,improve patients’quality of life,and ensure a normal life *** clinical presentations and outcomes of WD can vary within a single *** SUMMARY We present the cases of two siblings(19 and 27 years)from a consanguineous family in rural Ecuador,diagnosed as having WD during a family *** male patient,diagnosed at age 19 after his brother’s death from acute liver failure,presented with compensated cirrhosis,neurological symptoms,and bilateral Kayser-Fleischer *** developed progressive neurological deterioration during an irregular treatment with D-penicillamine due to medication *** condition improved upon switching to trientine tetrahydrochloride,and his neurological symptoms improved over an 8-year period of *** female patient,diagnosed at age 10,exhibited only biochemical *** treatment history was similar;however,she remained asymptomatic without disease progression over the same follow-up *** discuss the potential influence of epigenetic mechanisms and modifier genes on the various phenotypes,emphasizing the need for research in these areas to optimize therapeutic *** our patients’medical histories show how early diagnosis and treatment can prevent disease progression;and,how suboptimal treatments impact disease outcomes.

关键词： Wilson disease Kayser-Fleischer rings Copper chelator D-penicillamine Trientine tetrahydrochloride Case report

Demonstration of uncertainty resulting from MoDerate resolution Imaging Spectroradiometer-like geometries:an albedo case study

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International Journal of Digital Earth 2016年第5期9卷 520-544页

作者： enrique L.Montaño Department of Geographical Sciences University of MarylandCollege ParkMDUSA

This research examines uncertainty in MoDerate resolution Imaging Spectroradiometer(MoDIS)observations,and demonstrates the direct influence of geometric distortions resulting from the standard practice of geolocating swath *** observations vary dependent on the ground sample distance,which varies dependent on the view zenith angle that changes with every *** Level 2G(L2G)land products are generated by applying a geolocation algorithm that resamples the variable observation geometries to a consistent grid of fixed pixel size and location,a process which itself introduces variability associated with the changing observational *** this study,broadband albedo was simulated for five validation sites,representing five distinct land cover types,exhibiting quantifiable variability,with additional seasonal variability exhibited in some *** site simulations exhibit compounded uncertainty attributable to the geometric distortion sufficient to influence climate models(*** from 0.01 to 0.045 albedo).These results indicate there is a minimum level of uncertainty associated with the variable geometry that should be factored into L2Gbased products,particularly for nominal 250 m band *** the data to coarser resolutions and smoothing the data through average resampling can mitigate the uncertainty.

关键词： Earth observation geography land cover remote sensing visible/infrared remote sensing

Local renin angiotensin system and sperm DNA fragmentation

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Asian Journal of Andrology 2022年第2期24卷 139-146页

作者： María Victoria Aparicio Prieto María Victoria Rodríguez Gallego Asier Valdivia Palacín Yosu Franco Iriarte Gotzone Hervás Barbara enrique echevarría o.ella Luis Casis Saenz Human Reproduction Unit Cruces University HospitalBarakaldo 48903Spain Human Reproduction Unit San Pedro HospitalLogroño 26006Spain Department of Physiology Faculty of Medicine and NursingUniversity of the Basque Country(UPV/EHU)Leioa 48940Spain Human Reproduction Unit Ruber International HospitalMadrid 28034Spain

The renin angiotensin system(RAS)appears to influence male fertility at multiple *** this work,we analyzed the relationship between the RAS and DNA *** male volunteers were divided into two groups(25 each):control(DNA fragmentation≤20%)and pathological(DNA fragmentation>20%)*** of five peptidases controlling RAS were measured fluorometrically:prolyl endopeptidase(which converts angiotensin[A]I and A II to A 1–7),neutral endopeptidase(NEP/CD10:A I to A 1–7),aminopeptidase N(APN/CD13:A III to A IV),aminopeptidase A(A II to A III)and aminopeptidase B(A III to A IV).Angiotensin-converting enzyme(A I to A II),APN/CD13 and NEP/CD10 were also assessed by semiquantitative cytometry and quantitative flow cytometry assays,as were the receptors of all RAS components:A II receptor type 1(AT1R),A II receptor type 2(AT2R),A IV receptor(AT4R or insulin-regulated aminopeptidase[IRAP]),(pro)renin receptor(PRR)and A 1–7 receptor or Mas receptor(MasR)None of the enzymes that regulate levels of RAS components,except for APN/CD13(decrease in fragmented cells),showed significant differences between both *** of RAS receptors revealed no significant differences in immunolabeling patterns between normozoospermic and fragmented *** of AT1R(94.3%normozoospermic vs 84.1%fragmented),AT4R(96.2%vs 95.3%)and MasR(97.4%vs 87.2%)was similar between the ***2R(87.4%normozoospermic vs 63.1%fragmented)and PRR(96.4%vs 48.2%)were higher in non-fragmented *** findings suggest that fragmented DNA spermatozoa have a lower capacity to respond to bioactive RAS peptides.

关键词： DNA fragmentation local renin angiotensin system sperm fertility

Caving performance through the integration of microseismic activity and numerical modeling at DoZ-PT Freeport,Indonesia

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International Journal of Minerals,Metallurgy and Materials 2009年第1期16卷 1-6页

作者： Rubio enrique Napitupulu Daulat Mining Engineering Department Universidad de Chile Geotechnical Engineering Department PT Freeport IndonesiaTembagapuraIndonesia

This article describes an undergoing research at PT Freeport, Indonesia, in which the main goal is to use the microseismic information recorded as a result of mining to analyze cave propagation and stress performance on the actual production and fixed infrastructure. At the moment, several numerical experiments have been conducted to correlate the mining activity with the microseismic events using the data collected during year 2005 and 2006. As a result of the preliminary analysis a micro- and a macrocracking envelop were proposed on the basis of computation of stress behavior at the location of the events. Stresses have been computed using standard elastic continuous boundary element models. The correlation between the average source radius and the stress performance has provided a method to propose a macrocracking criterion. Several techniques have been tested to nucleate the microseismic activity around different geological features. This last attempt was aimed to look at potential overstresses induced over the undercut and extraction level drifts. A method was devised to integrate the microseismicity into a 3-dimensional ride distribution model. This model has shown to be very effective to quantify the overstress induced as a result of computing volumetric microseismicity density. The volumetric microseismic model showed to induce overstress up to 10 MPa over a period of two months. The future work will concentrate on the calibration of the integrated model with actual damage observations made at the current mining infrastructure.

关键词： microseism underground mining block caving stress distribution microcrack criterion

Internal Controllability for Parabolic Systems Involving Analytic Non-local Terms

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Chinese Annals of Mathematics,Series B 2018年第2期39卷 281-296页

作者： Pierre LISSY enrique ZUAZUA This article is dedicated to Phillippe G. Ciarlet in the occasion of his 80th birthday with gratitude and admiration/or his mastery and continuous support. Merci Philipp

This paper deals with the problem of internal controllability of a system of heat equations posed on a bounded domain with Dirichlet boundary conditions and perturbed with analytic non-local coupling terms. Each component of the system may be controlled in a different subdomain. Assuming that the unperturbed system is controUable--a property that has been recently characterized in terms of a Kalman-like rank condition--the authors give a necessary and sufficient condition for the controllability of the coupled system under the form of a unique continuation property for the corresponding elliptic eigenvalue system. The proof relies on a compactness-uniqueness argument, which is quite unusual in the context of parabolic systems, previously developed for scalar parabolic equations. The general result is illustrated by two simple examples.

关键词： Parabolic systems Non-local potentials Analyticity Null controllability Kalma~ rank condition Spectral unique continuation

on the material dependence of experimental shear fracture orientation

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Science China Earth Sciences 2015年第12期58卷 2357-2362页

作者： enrique GoMEZ-RIVAS Albert GRIERA Department of Geology and Petroleum Geology School of Geosciences King’s College University of Aberdeen Departament de Geologia Universitat Autònoma de Barcelona

It is not uncommon to observe shear fractures in ductile rocks oriented at more than 45° with respect to the maximum compression direction. Since these orientations cannot be explained with the classic Mohr-Coulumb or Tresca yield criteria, Zheng et al.(Journal of Structural Geology, 35: 1394–1405, 2011) proposed the maximum effective moment(MEM) failure criterion. This rule suggests that shear fractures in ductile rocks form at ?55° with the maximum compression axis and that this orientation is material-independent and, therefore, universal. Zheng et al.(Science China: Earth Sciences, 57(11): 2819–2824, 2014) used data from our own experiments as supporting evidence of their failure criterion. In this contribution we discuss why shear fracture formation in ductile rocks indeed strongly depends on the mechanical properties of the deforming medium, and why experimental data should not be taken to prove the validity of the MEM criterion. The formation mechanisms and orientations of shear fractures in our experiments significantly vary depending on the material strength and degree and type of anisotropy(composite and intrinsic). We therefore demonstrate using experimental data that a universal failure angle in ductile and anisotropic rocks does not apply. Additionally, we highlight some inconsistencies of the MEM criterion.

关键词： shear fracture anisotropy fracture orientation material properties failure criteria ductile deformation

A UNIFIED FRAMEWoRK FoR SITE SELECTIoN AND BUSINESS FoRECASTING USING ANP

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Journal of Systems Science and Systems Engineering 2006年第2期15卷 178-188页

作者： enrique MU Katz Graduate School of Business University of PittsburghUSA

This paper reports an on-going application of the Analytic Network Process （ANP） in the context of a non-profit organization： The Latin American Studies Association （LASA）. This institution organizes a large international conference every eighteen months and needs to estimate conference attendance in advance （for logistic purposes） as well as selecting a host city where the combination of hotel infrastructure, conference costs, and so on, makes it a sound financial choice. In this paper, ANP will be used to： first, create a model to predict the relative number of attendees to the forthcoming 2009 LASA conference; and second, to create a Benefit-Cost-Risk （BCR） model to select the most suitable Latin American city as the conference site, This paper shows how the combination of these two ANP models, one for prediction and one for selection, can be used together for effective decision-making.

关键词： ANP AHE non-profit decision-making predictive models site selection

Rapid on-site evaluation of endoscopic-ultrasound-guided fine-needle aspiration diagnosis of pancreatic masses

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World Journal of Gastroenterology 2014年第28期20卷 9451-9457页

作者： Julio Iglesias-Garcia Jose Lario-Noia Ihab Abdulkader J enrique Domínguez-Muoz Department of Gastroenterology and Hepatology Foundation for Research in Digestive DiseasesUniversity Hospital of Santiago de Compostela Department of Pathology University Hospital of Santiago de Compostela

Endoscopic ultrasound (EUS) has become an essential tool for the study of pancreatic diseases. Specifically, EUS plays a pivotal role evaluating patients with a known or suspected pancreatic mass. In this setting, differential diagnosis remains a clinical challenge. EUS-guided fine-needle aspiration (FNA) and fine-needle biopsy (FNB) have been proven to be safe and useful tools in this setting. EUS-guided FNA and FNB, by obtaining cytological and/or histological samples, are able to diagnose pancreatic lesions with high sensitivity and specificity. In this context, several methodological features, trying to increase the diagnostic yield of EUS-guided FNA and FNB, have been evaluated. In this review, we focus on the role of rapid on-site evaluation (RoSE). From data reported in the literature, RoSE may increase diagnostic yield of EUS-FNA specimens by 10%-30%, and thus, diagnostic accuracy. However, we should point out that many recent studies have reported adequacy rates of > 90% without RoSE, indicating that, perhaps, at high-volume centers, RoSE may not be indispensable to achieve excellent results. The use of RoSE can be considered important during the learning curve of EUS-FNA, and also in hospital with diagnostic accuracy rates < 90%.

关键词： Endoscopic-ultrasound-guided fine-needle aspiration Rapid on-site evaluation Solid pancreatic tumors Diagnostic accuracy

Stable and non-symmetric pitchfork bifurcations

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Science China Mathematics 2020年第9期63卷 1837-1852页

作者： enrique Pujals Michael Shub Yun Yang Department of Mathematics Graduate CenterCity University of New YorkNew YorkNY 10016USA Department of Mathematics City College of New YorkNew YorkNY 10031USA Department of Mathematics Virginia Polytechnic Institute and State UniversityBlacksburgVA 24061USA

In this paper,we present a criterion for pitchfork bifurcations of smooth vector elds based on a topological *** result expands Rajapakse and Smale's result[15]signi *** on our criterion,we present a class of families... 详细信息

关键词： pitchfork bifurcation index non-symmetric vector eld center manifold