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Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome amplification template: A case report

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World Journal of Clinical Cases 2019年第23期7卷 4029-4035页

作者： Adina Neumann miguel angel Alcantara-Ortigoza Ariadna Gonzalez-del angel Felipe Camargo-Diaz Esther lopez-Bayghen Laboratorio de Investigacion y Diagnostico Molecular Instituto de Infertilidad y Genetica Mexico SCINGENESMexico City 05320Mexico Instituto Nacional de Pediatria Torre de InvestigacionMexico City 04530Mexico Laboratorio de Biologia Molecular Departamento de Genetica HumanaInstituto Nacional de PediatriaMexico City 04530Mexico Departamento de Toxicologia Centro de Investigacion y de Estudios Avanzados del Instituto Politecnico Nacional(CINVESTAV-IPN)Mexico City 07360Mexico

BACKGROUND Laron syndrome(LS)is an autosomal recessive hereditary condition affecting only 1/1000000 *** cause is associated with mutations in the growth hormone(GH)receptor(GHR),leading to GH *** patients typically present with severe growth retardation,obesity,and abnormal sexual ***,LS diagnosis is performed ***,we assessed the efficiency of Pre-implantation Genetic Testing(PGT)coupled with monoplex-polymerase chain reaction(PCR)technology for detecting this monogenic disease in embryos from a couple confirmed as LS heterozygous carriers CASE SUMMARY The couple LS-carriers were confirmed by the presence of a first child born with *** couple underwent a standard in vitro fertilization(IVF)*** was collected from trophectoderm cells from day 5 *** genome amplification(WGA)was performed using a Sureplex DNA Amplification System and analyzed by PCR,targeting the deletion of the exons 5 and 6 in the GHR gene as well as PGT by Next-generation Sequencing(Illumina).Eleven embryos were collected and analyzed.27.3%were the wild type for GHR,45.5%were heterozygotes,and 18.2%homozygous *** embryo yielded no *** 2-embryos transfers were performed;2 normal homozygous and four heterozygous carriers were selected for *** first two transfers were unsuccessful,whereas the final transfer with two heterozygous embryos resulted in clinical *** genomic composition of the fetus was verified,applying the same techniques using amniocytes,extracted after 21 wk of the ongoing *** fetus was confirmed as GHR deletion in exon 5-6,carrier.A non-affected baby was *** Here,we present a case demonstrating that using WGA as a template in addition to PCR targeting specific gene regions,exons 5 and 6 on the GHR gene,could identify LS carrier *** provides evidence that WGA and PCR serve as an excellent tool to detect this specific monogenic disease in IVF e

关键词： Growth hormone insensitivity Growth hormone receptor mutations Intragenic deletions Molecular diagnosis Embryo diagnosis Laron syndrome Case report

Role of gene polymorphisms in gastric cancer and its precursor lesions:Current knowledge and perspectives in Latin American countries

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World Journal of Gastroenterology 2014年第16期20卷 4503-4515页

作者： miguel angel Chiurillo Laboratorio de Genética Molecular "Dr.Jorge Yunis-Turbay" Decanato de Ciencias de la SaludUniversidad Centroccidental Lisandro AlvaradoBarquisimeto 3001Venezuela

Latin America shows one of the highest incidence rates of gastric cancer in the world,with variations in mortality rates among nations or even within countries belonging to this *** cancer is the result of a multifactorial complex process,for which a multistep model of carcinogenesis is currently *** to the infection with Helicobacter pylori,that plays a major role,environmental factors as well as genetic susceptibility factors are significant players at different stages in the gastric cancer *** differences in population origin,demographic structure,socio-economic development,and the impact of globalization lifestyles experienced in Latin America in the last decades,all together offer opportunities for studying in this context the influence of genetic polymorphisms in the susceptibility to gastric *** aim of this article is to discuss current trends on gastric cancer in Latin American countries and to review the available published information about studies of association of gene polymorphisms involved in gastric cancer susceptibility from this region of the world.A total of 40 genes or genomic regions and69 genetic variants,58%representing markers involved in inflammatory response,have been used in a number of studies in which predominates a low number of individuals(cases and controls)*** of IL-1B(-511 C/T,14 studies;-31 T/C,10 studies)and IL-1RN(variable number of tandem repeats,17 studies)are the most represented ones in the reviewed *** genetic variants recently evaluated in large metaanalyses and associated with gastric cancer risk were also analyzed in a few studies[e.g.,prostate stem cell antigen(PSCA),CDH1,Survivin].Further and better analysis centered in gene polymorphisms linked to other covariates,epidemiological studies and the information provided by meta-analyses and genome-wide association studies should help to improve our understanding of gastric cancer etiology in order to d

关键词： Latin America Gastric cancer Precancerous lesions Gene polymorphisms Single nucleotide polymorphisms

Software Project Effort Estimation Based on Multiple Parametric Models Generated Through Data Clustering

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Journal of Computer Science & Technology 2007年第3期22卷 371-378页

作者： Juan J.Cuadrado Gallego Daniel Rodríguez miguel angel Sicilia miguel Garre Rubio angel García Crespo Department of Computer Science The University of Alcalá AlcaláSpain Department of Computer Science Carlos Ⅲ University.Madrid Spain

Parametric software effort estimation models usually consists of only a single mathematical relationship. With the advent of software repositories containing data from heterogeneous projects, these types of models suffer from poor adjustment and predictive accuracy. One possible way to alleviate this problem is the use of a set of mathematical equations obtained through dividing of the historical project datasets according to different parameters into subdatasets called partitions. In turn, partitions are divided into clusters that serve as a tool for more accurate models. In this paper, we describe the process, tool and results of such approach through a case study using a publicly available repository, ISBSG. Results suggest the adequacy of the technique as an extension of existing single-expression models without making the estimation process much more complex that uses a single estimation model. A tool to support the process is also presented. Keywords software engineering, software measurement, effort estimation, clustering

关键词： software engineering software measurement effort estimation clustering

Prevalence of the terrain reversal effect in satellite imagery

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International Journal of Digital Earth 2015年第8期8卷 640-655页

作者： miguel-angel Bernabé-Poveda Arzu Çöltekin Universidad de las Fuerzas Armadas–ESPE Departamento de Ciencias de la Tierra y de la ConstrucciónSangolquíPichinchaEcuador Geographic Information Visualization and Analysis Group Department of GeographyUniversity of ZurichSwitzerland

The terrain reversal effect is a perceptual phenomenon which causes an illusion in various 3D geographic visualizations where landforms appear inverted,*** perceive valleys as ridges and vice *** that such displays are important for spatio-visual analysis,this illusion can lead to critical mistakes in interpreting the ***,it is currently undocumented how commonly this effect is *** this paper,we study the prevalence of the terrain reversal effect in satellite imagery through a two-stage online user *** experiment was conducted with the participation of a diverse and relatively large population(n=535).Participants were asked to identify landforms(valley or ridge?)or judge a 3D spatial relationship(is A higher than B?).When the images were rotated by 180°,the results were *** a control task with‘illusion-free’original images,people were successful in identifying landforms,yet a very strong illusion occurred when these images were rotated 180°.Our findings demonstrate that the illusion is acutely present;thus,we need a better understanding of the problem and its ***,the results caution us that in an interactive environment where people can rotate the display,we might be introducing a severe perceptual problem.

关键词： terrain reversal relief inversion false topographic perception phenomenon photo interpretation visual illusion user study

Magnetofection as a new tool to study microglia biology

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Neural Regeneration Research 2019年第5期14卷 767-768页

作者： Jose Luis Venero miguel angel Burguillos Instituto de Biomedicina de Sevilla (IBiS)/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla and Departamento de Bioquímica y Biología Molecular Facultad de Farmacia Universidad de Sevilla Department of Biochemistry University of Cambridge

Microglia are the resident macrophages of the brain,originally described by Pio del Rio-Hortega(a student of Santiago Ramon y Cajal)in a series of studies in *** those pioneering studies,many others have followed to describe microglia as complex and multitasking cells with many diverse roles under physiological(*** key role in synapse pruning during development)or diseased *** exist as sentinels or surveyors of the environment that surround neurons,becoming reactive upon a wide array of stimuli and consequently developing an appropriate inflammatory *** fact,a neuroinflammatory response driven by microglia is found in virtually every disease process that occurs within the central nervous ***,a better understanding of the mechanisms governing the microglia response is the key to improving the outcome of neurodegenerative conditions.

关键词： Magnetofection new tool study microglia biology

Normozoospermic versus teratozoospermic domestic cats： differential testicular volume, sperm morphometry, and subpopulation structure during epididymal maturation

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Asian Journal of Andrology 2016年第6期18卷 871-878页

作者： miguel angel Gutierrez-Reinoso Manuel Garcia-Herreros National Secretariat of Higher Education Science Technology and Innovation (SENESCYT) Quito Ecuador

Teratozoospermia （〈40% morphologically normal spermatozoa/ejaculate） is a frequent phenomenon in feline species. This research was carried out to study the possible differences in testicular volume, differential sperm morphometric traits, and potential differences regarding the sperm subpopulational structure during epididymal sperm maturation in teratozoospermic feline donors. Epididymal sperm samples were collected from the caput （R1）, corpus （R2）, and cauda （R3） epididymidis in two donor groups （N： normozoospermic; T： teratozoospermic）. Aliquots were assessed for concentration, viability, motility, and acrosomal integrity. Sperm morphometric descriptors from CASA-Morph analysis were analyzed by the Principal Component Analysis （PCA） and clustering analyses. Irrespective of the group analyzed, PCA revealed two Principal Components （PCs） for each epididymal region explaining more than the 93% of the variance. Surprisingly, the number of subpopulations remained constant in regions R1-R2-R3 irrespective of the donor group analyzed. However, the distribution of these subpopulations was found to be structurally different and strongly influenced by the epididymal region and the donor group. In conclusion, testicular morphometry and the sperm subpopulation structure were different in N and T donors. The alterations in subpopulations during epididymal maturation could be used as a potential clinical indicator of teratozoospermic individuals since an important influence of teratozoospermia on sperm subpopulation structure has been demonstrated.

关键词： epididymis feline sperm morphometry sperm subpopulations teratozoospermia testicular volume

TET2, an “ambiguous” player in inflammation

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Neural Regeneration Research 2020年第8期15卷 1481-1482页

作者： Ana María Espinosa-Oliva miguel angel Burguillos Departamento de Bioquímica y Biología Molecular Facultad de Farmacia Universidad de Sevilla and Instituto de Biomedicina de Sevilla (IBiS) Hospital Universitario Virgen del Rocío/CSIC

Microglial cells,the“macrophages”from the central nervous system(CNS),perform a variety of roles necessary to keep the homeostasis in the healthy ***,microglial cells are best known for their role as“first responders”through initiation of an innate immune response against a wide variety of deleterious stimuli in the *** controlled inflammatory response is beneficial and disappears once the deleterious stimuli are gone.

关键词： inflammation homeostasis delete

Application of wave equation theory to improve dynamic cone penetration test for shallow soil characterisation

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Journal of Rock Mechanics and Geotechnical Engineering 2022年第1期14卷 289-302页

作者： miguel angel Benz Navarrete Pierre Breul Roland Gourvès Sol Solution Géotechnique Réseaux ZA des Portes de Riom Nord23 Avenue Georges GershwinRiom Cedex63204France UniversitéClermont Auvergne Institut PascalUMR CNRS 6602Clermont-Ferrand63000France Polytech Clermont-Ferrand Campus des Cézeaux 2 Avenue Blaise PascalAubière Cedex63178France

Among the geotechnical in situ tests,the dynamic penetration test(DPT)is commonly used around the ***,DPT remains a rough technique and provides only one failure parameter:blow count or cone *** paper presents an improvement of the dynamic cone penetration test(DCPT)for soil characterisation based on the wave equation *** on an instrumented lightweight dynamic penetrometer driving with variable energy,the main process of the test involves the separation and reconstruction of the waves propagating in the rods after each blow and provides a dynamic cone load-penetration(DCLT)*** analytical methodology is used to analyse this curve and to estimate additional strength and deformation parameters of the soil:dynamic and pseudo-static cone resistances,deformation modulus and wave *** carried out in the laboratory on different specimens(wood,concrete,sand and clay)in an experimental sand pit and in the field demonstrated that the resulting DCLT curve is reproducible,sensitive and reliable to the test conditions(rod length,driving energy,etc.)as well as to the soil properties(nature,density,etc.).Obtained results also showed that the method based on shock polar analysis makes it possible to evaluate mechanical impedance and wave velocity of soils,as demonstrated by the comparisons with cone penetration test(CPT)and shear wave velocity measurements made in the *** technique improves the method and interpretation of DPT and provides reliable data for shallow foundation design.

关键词： In situ test Dynamic cone penetrometer P.A.N.D.A. Wave equation Wave decoupling Dynamic cone load-penetration(DCLT)curve

Thermo-electro-mechanical microstructural interdependences in conductive thermoplastics

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npj Computational Materials 2023年第1期9卷 955-965页

作者： Javier Crespo-miguel Sergio Lucarini angel Arias Daniel Garcia-Gonzalez Department of Continuum Mechanics and Structural Analysis Universidad Carlos III de MadridAvda.de la Universidad 3028911 LeganésMadridSpain Department of Civil and Environmental Engineering Imperial College of LondonSouth Kensington CampusLondon SW72AZUK

Additive manufacturing has enabled the design of thermoplastic components that provide structural support,electrical conductivity and heat generation modulated by mechanical *** mechanisms and interplays that govern the material response at the microstructural level remain,however,***,we develop an experimental method to characterise conductive filaments from a combined mechanical,electrical and thermal *** approach is used to unravel exciting material interplays of conductive polylactic *** overcome experimental limitations that prevent a complete microstructural analysis of the problem,we develop a full-field homogenisation framework and implement it for finite *** framework accounts for viscoplasticity,electrical and thermal conduction,convection and heat generation via Joule effect,as well as for the interdependences between *** experimental validation,the framework is applied to virtually optimise fabrication requirements to obtain desired properties in final products,i.e.,stiffer products,filaments with higher conductivities or with better sensing capabilities.

关键词： conductive electrical overcome