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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

Understanding bottom-up continuous hydrothermal synthesis of nanoparticles using empirical measurement and computational simulation

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Nano Research 2016年第11期9卷 3377-3387页

作者： Jose Sierra-Pallarest Thomas Huddle Juan Garcia-Serna esther Alonso Fidel Mato Igor Shvets Olaf Luebben Maria Jose Cocero Edward Lester Fluids Engineering Group Energy and Fluid Mechanics Engineering Department University of Valladolid Paseo del Cauce 59 47010 Valladolid Spain Advanced Materials Research Group the University of Nottingham University Park Nottingham NG7 2RD UK High Pressure Processes Group Department of Chemical Engineering and Environmental Technology University of Valladolid C/Prado de la Magdalena s/n 47011 Valladolid Spain School of Physics Trinity College Dublin College green Dublin 2 Ireland

Continuous hydrothermal synthesis was highlighted in a recent review as an enabling technology for the production of nanoparticles. In recent years, it has been shown to be a suitable reaction medium for the synthesis of a wide range of nanomaterials. Many single and complex nanomaterials such as metals, metal oxides, doped oxides, carbonates, sulfides, hydroxides, phosphates, and metal organic frameworks can be formed using continuous hydrothermal synthesis techniques. This work presents a methodology to characterize continuous hydrothermal flow systems both experimentally and numerically, and to determine the scalability of a counter current supercritical water reactor for the large scale production （〉1,000 T-year-1） of nanomaterials. Experiments were performed using a purpose-built continuous flow rig, featuring an injection loop on a metal salt feed line, which allowed the injection of a chromophoric tracer. At the system outlet, the tracer was detected using UV/Vis absorption, which could be used to measure the residence time distribution within the reactor volume. Computational fluid dynamics （CFD） calculations were also conducted using a modeled geometry to represent the experimental apparatus. The performance of the CFD model was tested against experimental data, verifying that the CFD model accurately predicted the nucleation and growth of the nanomaterials inside the reactor.

关键词： nanoparticle computational fluid dynamics synthesis supercritical inorganics

The Road to the Integration of International Migrants： The Case of the Work Integration Social Enterprises

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Sociology Study 2012年第11期2卷 868-879页

作者： Maria esther Aretxabala University of Deusto Spain

This paper reports some first results obtained from a study conducted on work integration social enterprises （WISEs） in the framework of the social and solidarity economy （SSE） and the integration of international migrants. WISEs, as hybrid transit companies, go beyond a pure economic rationale, enabling labor and social inclusion for disadvantaged groups, international migrants included, through an insertion process in a real job performance environment. Therefore, WISEs should be understood as valuable mechanisms for achieving optimal levels of personal empowerment and social and labor integration in their active use and enhancement of these employees＇ capacities and competences. All of these aspects of WISEs have an impact on social justice in helping construct a more inclusive growth and society and foster the integration of international migrants.

关键词： Integration labor and social inclusion international migration work integration social enterprises (WISEs) social andsolidarity economy (SSE)

Microstructure and wear characterization of AA2124/4wt.%B4C nano-composite coating on Ti-6Al-4V alloy using friction surfacing

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Transactions of Nonferrous Metals Society of China 2019年第6期29卷 1263-1274页

作者： I. esther I. DINAHARAN N. MURUGAN Department of Mechanical Engineering Anna University Chennai 600025 Tamil Nadu India Department of Robotics and Automation Engineering PSG College of Technology Coimbatore 641004 Tamilnadu India Department of Mechanical Engineering Science University of Johannesburg Auckland Park Kingsway Campus Johannesburg 2006 South Africa

This work is focused on developing AA2124/4 wt.%B4 C nano-composite coatings on Ti-6 A1-4 V using friction surfacing to improve the wear resistance. The composite was produced using conventional stir casting method and coatings were laid using an indigenously-developed friction surfacing machine. The rotational speed of the mechtrode was varied. The microstructure of the composite coating was observed using conventional and advanced microscopic techniques. The sliding wear behavior was evaluated using a pin-on-disc apparatus. The coating geometry(thickness and width) increased with increased rotational speed. The interface was straight without thick intermetallic layer. Homogenous distribution of nano B4C particles and extremely fine grains was observed in the composite coating. The interfacial bonding between the aluminum matrix and B4C particles was excellent. The composite coating improved the wear resistance of the titanium alloy substrate due to the reduction in effective contact area,lower coefficient of friction and excellent interfacial bonding.

关键词： aluminum matrix composite titanium friction surfacing coating wear

Unravelling the Quantum Maze

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Journal of Modern Physics 2018年第8期9卷 1697-1711页

作者： María esther Burgos Department of Physics University of Los Andes Mérida Venezuela

The restoration of philosophical realism as the basis of quantum mechanics is the main aim of the present study. A spontaneous projection approach to quantum theory previously formulated achieved this goal in cases where the Hamiltonian does not depend explicitly on time. After discussing the most relevant flaws of orthodox quantum mechanics, a formulation of the spontaneous projections approach in the general case is introduced. This approach yields experimental predictions which in general coincide with those of the orthodox version and overcomes its main flaws.

关键词： Quantum Weirdness Quantum Measurements Spontaneous Quantum Jumps

Quantifying Tillage and Vetiver Grass (Vetiveria nigritana Stapf) Strips Spacing Effects on Runoff, Soil Loss and Maize Yield in Southern Guinea Savanna of Nigeria

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Journal of Northeast Agricultural University(English Edition) 2017年第4期24卷 1-18页

作者： Ewetola esther Abosede Department of Crop Production and Soil Science Ladoke Akintola University of Technology Ogbomoso Oyo State 234 Nigeria

Soil erosion induced by inappropriate tillage remains a serious problem on many agricultural fields in the humid tropics. Studies were conducted between 2004 and 2006, on an Alfisol in Ogbomoso in the Southern Guinea Savanna of Nigeria to evaluate the effectiveness of Vetiver Grass(Vetiveria nigritana) Strips(VGS) under different tillage systems. The experiment was split-plot laid out in a randomized complete block design with two replications on 6% slope with 18 runoff plots. Main plot treatments were tillage systems; Manual Clearing(MC), Ploughing(P) and Ploughing plus Harrowing(PH). Subplot treatments were VGS spaced at intervals of 5 m(eight strips) and 10 m(four strips) with the control(no-vetiver). Runoffs and soil losses were collected after each major storm. Chemical analyses of eroded sediments and runoff were determined. Data were analyzed using ANOVA at p<0.05. The results showed that tillage had no significant reduction in runoffs and soil losses, but they were reduced with MC compared with P and PH. Mean total runoff on 5 and 10 m VGS plots were significantly(p<0.05) lower than that of the control by 74.4% and 45.0%, respectively. Corresponding soils loss on 5 and 10 m VGS plots were 27.1% and 53.5%, respectively. Mean NO3-N levels in runoff water were lower under PH plots than those under MC plots by 79.0% and 66.5%, respectively in 2004 and 2006 growing seasons. VGS spaced at 5 m significantly(p<0.05) reduced NO3-N loss than the control by 108.8% in 2004. Nutrients loads of eroded sediments were consistently higher for the control(no-vetiver) plots and least for 5 m VGS plot. Carbon, nitrogen and phosphorus contents of eroded sediments were 90%-92.4%, 83%-83.6% and 97%-97.8%, respectively, and were lower on 5 m than other treatments. Maize grain yield was significantly(p<0.05) affected by both tillage and VGS spacing only in 2005 growing season. P plot produced higher grain yield than MC and PH by 79.9% and 99.1%, respectively. Also, grain yield on VG

关键词： tillage vetiver grass strip runoff soil loss maize yield

Exploiting the diversity of tomato:the development of a phenotypically and genetically detailed germplasm collection

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Horticulture Research 2020年第1期7卷 1941-1954页

作者： Estefanía Mata-Nicolás Javier Montero-Pau esther Gimeno-Paez Víctor Garcia-Carpintero Peio Ziarsolo Naama Menda Lukas A.Mueller JoséBlanca Joaquín Cañizares esther van der Knaap María JoséDíez Instituto Universitario de Conservación y Mejora de la Agrodiversidad Valenciana.COMAV.Universitat Politècnica de València ValenciaSpain Department of Biochemistry and Molecular Biology Universitat de ValènciaValenciaSpain Boyce Thompson Institute IthacaNYUSA Institute of Plant Breeding Genetics and GenomicsUniversity of GeorgiaGeorgiaGAUSA Department of Horticulture University of GeorgiaGeorgiaGAUSA

A collection of 163 accessions,including Solanum pimpinellifolium,Solanum lycopersicum *** and Solanum lycopersicum ***,was selected to represent the genetic and morphological variability of tomato at its centers of origin and domestication:Andean regions of Peru and Ecuador and *** collection is enriched with *** *** from the Amazonian region that has not been analyzed previously nor used *** collection has been morphologically characterized showing diversity for fruit,flower and vegetative *** genomes were sequenced in the Varitome project and are publicly available(***/projects/varitome).The identified SNPs have been annotated with respect to their impact and a total number of 37,974 out of 19,364,146 SNPs have been described as high impact by the SnpEeff *** has shown associations for different traits,demonstrating the potential of this collection for this kind of *** have not only identified known QTLs and genes,but also new regions associated with traits such as fruit color,number of flowers per inflorescence or inflorescence *** speed up and facilitate the use of this information,F2 populations were constructed by crossing the whole collection with three different *** F2 collection is useful for testing SNPs identified by GWAs,selection sweeps or any other candidate *** data is available on Solanaceae Genomics Network and the accession and F2 seeds are freely available at COMAV and at TGRC *** these resources together make this collection a good candidate for genetic studies.

关键词： germplasm collection traits

The Contradiction between Two Versions of Quantum Theory Could Be Decided by Experiment

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Journal of Modern Physics 2019年第10期10卷 1190-1208页

作者： María esther Burgos Faculty of Sciences University of Los Andes Mérida Venezuela

The incompatibility of Orthodox Quantum Mechanics with philosophical realism poses a serious challenge to scientists upholding such a philosophical doctrine. The desire to find a solution to this and other conceptual problems that quantum mechanics confronts has motivated many authors to propose alternative versions to Orthodox Quantum Mechanics. One of them is the Spontaneous Projection Approach, a theory grounded on philosophical realism. It has been introduced in previous papers and, with a few exceptions, it yields experimental predictions coincident with those of Orthodox Quantum Mechanics. One of these exceptions is analyzed in detail. The difference in predictions becomes apparent in a suggested experiment which could put both theories to the test.

关键词： Philosophical Realism Orthodox Quantum Mechanics Spontaneous Projection Approach Quantum Measurement Problem

Effects of processing parameters on corrosion properties of dissimilar friction stir welds of aluminium and copper

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Transactions of Nonferrous Metals Society of China 2014年第5期24卷 1323-1330页

作者： esther T.AKINLABI Anthony ANDREWS Stephen A.AKINLABI Department of Mechanical Engineering Science University of JohannesburgAuckland Park Kingsway Campus Department of Materials Engineering Kwame Nkrumah University of Science and Technology School of Mechanical Industrial and Aeronautical Engineering University of Witwatersrand

The influence of friction stir welding processing parameters on dissimilar joints conducted between aluminium alloy （AA5754） and commercially pure copper （C11000） was studied. The welds were produced by varying the rotational speed from 600 to 1200 r/min and the feed rate from 50 to 300 mm/min. The resulting microstructure and the corrosion properties of the welds produced were studied. It was found that the joint interfacial regions of the welds were characterized by interlayers of aluminium and copper. The corrosion tests revealed that the corrosion resistance of the welds was improved as the rotational speed was increased. The corrosion rates of the welds compared to the base metals were improved compared with Cu and decreased slightly compared with the aluminium alloy. The lowest corrosion rate was obtained at welds produced at rotational speed of 950 r/min and feed rate of 300 mm/min which corresponds to a weld produced at a low heat input.

关键词： aluminium alloy copper corrosion friction stir weld processing parameters