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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

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Task Offloading in Edge Computing Using GNNs and DQN

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Computer Modeling in Engineering & Sciences 2024年第6期139卷 2649-2671页

作者： Asier Garmendia-Orbegozo Jose David Nunez-gonzalez Miguel angel Anton Department of Applied Mathematics University of the Basque Country UPV/EHUEibar20600Spain TECNALIA Basque Research and Technology Alliance(BRTA)San Sebastian20009Spain

In a network environment composed of different types of computing centers that can be divided into different layers(clod,edge layer,and others),the interconnection between them offers the possibility of peer-to-peer task *** many resource-constrained devices,the computation of many types of tasks is not feasible because they cannot support such computations as they do not have enough available memory and processing *** this scenario,it is worth considering transferring these tasks to resource-rich platforms,such as Edge Data Centers or remote cloud *** different reasons,it is more exciting and appropriate to download various tasks to specific download destinations depending on the properties and state of the environment and the nature of the *** the same time,establishing an optimal offloading policy,which ensures that all tasks are executed within the required latency and avoids excessive workload on specific computing centers is not *** study presents two alternatives to solve the offloading decision paradigm by introducing two well-known algorithms,Graph Neural Networks(GNN)and Deep Q-Network(DQN).It applies the alternatives on a well-known Edge Computing simulator called PureEdgeSimand compares them with the two defaultmethods,Trade-Off and Round *** showed that variants offer a slight improvement in task success rate and workload *** terms of energy efficiency,they provided similar ***,the success rates of different computing centers are tested,and the lack of capacity of remote cloud servers to respond to applications in real-time is *** novel ways of finding a download strategy in a local networking environment are unique as they emulate the state and structure of the environment innovatively,considering the quality of its connections and constant *** download score defined in this research is a crucial feature for determining the quality of a download path

关键词： Edge computing edge offloading fog computing task offloading

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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

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Hybrid magnetorheological elastomers enable versatile soft actuators

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npj Computational Materials 2022年第1期8卷 1546-1559页

作者： Miguel angel Moreno-Mateos Mokarram Hossain Paul Steinmann Daniel Garcia-gonzalez Department of Continuum Mechanics and Structural Analysis Universidad Carlos III de MadridAvda.de la Universidad 3028911LeganésMadridSpain Zienkiewicz Centre for Computational Engineering Faculty of Science and EngineeringSwansea UniversitySA18ENSwanseaUK Institute of Applied Mechanics University of Erlangen-NurembergEgerland Str.5ErlangenGermany Glasgow Computational Engineering Centre School of EngineeringUniversity of GlasgowG128QQGlasgowUK

Recent advances in magnetorheological elastomers(MREs)have posed the question on whether the combination of both soft-and hard-magnetic particles may open new routes to design versatile multifunctional ***,we conceptualise ultra-soft hybrid MREs(≈1–10 kPa stiffness)combining experimental and computational ***,a comprehensive experimental characterisation is *** results unravel that the magneto-mechanical performance of hybrid MREs can be optimised by selecting an adequate mixing ratio between ***,a multi-physics computational framework provides insights into the synergistic magneto-mechanical interactions at the *** particles amplify the magnetisation and hard particles contribute to torsional *** numerical results suggest that the effective response of hybrid MREs emerges from these intricate ***,we uncover exciting possibilities to push the frontiers of MRE *** are demonstrated by simulating a bimorph beam that provides actuation flexibility either enhancing mechanical bending or material stiffening,depending on the magnetic stimulation.

关键词： versatile magneto enable

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Whole-genome amplification/preimplantation genetic testing for propionic acidemia of successful pregnancy in an obligate carrier Mexican couple:A case report

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World Journal of Clinical Cases 2021年第29期9卷 8797-8803页

作者： Adina Neumann Miguel angel Alcantara-Ortigoza ariadna González-del angel Nestor Alejandro Zarate Díaz Javier Sam Santana Leonardo M Porchia Esther López-Bayghen Laboratorio de Investigación y Diagnóstico Molecular IngenesMexico City 05320Mexico Laboratorio de Biología Molecular Subdirección de Investigación MédicaInstituto Nacional de PediatríaMexico City 04530Mexico DNA-GEN S.C.Centro de Alta Especialidad en Genética Humana Mexico City 14070Mexico Investigación Clínica IngenesPuebla 72820Mexico Departamento de Toxicología Centro de Investigación y de Estudios Avanzados del Instituto Politécnico NacionalMexico City 07360Mexico

BACKGROUND Identifying a potential single monogenetic disorder in healthy couples is costly due to the Assisted Reproduction facilities'current methodology for screening,which focuses on the detecting multiple genetic disorders at ***,we report the successful application of a low-cost and fast preimplantation genetic testing for monogenic/single gene defects(PGT-M)approach for detecting propionic acidemia(PA)in embryos obtained from a confirmed heterozygous propionyl-CoA carboxylase alpha subunit(PCCA)*** SUMMARY A fertile 32-years old Mexican couple with denied consanguinity sought antenatal genetic *** were suspected obligate PA carriers due to a previous deceased PA male newborn with an unknown PCCA/propionyl-CoA carboxylase beta subunit(PCCB)***-Generation Sequencing revealed a heterozygous genotype for a pathogenic PCCA variant(c.2041-1G>T,ClinVar:RCV-000802701.1;dbSNP:rs1367867218)in both *** couple requested in vitro fertilization(IVF)and PGT-M for *** IVF,12 oocytes were collected and fertilized,of which two resulted in high-quality *** biopsies and Whole Genome Amplification by a fragmentation/amplification-based method were performed and revealed that the two embryos were *** polymerase chain reaction and further Sanger sequencing of the exon-intron borders revealed a wild-type PCCA male embryo and a heterozygous c.2041-1G>T female *** embryos were transferred,resulting in a clinical pregnancy and the delivery of a healthy male newborn(38 wk,weight:4080 g,length:49 cm,APGAR 9/9).The absence of PA was confirmed by expanded newborn *** We show that using PGT-M with Whole Genome Amplification templates,coupled with IVF,can reduce the transmission of a pathogenic variant of the PCCA gene.

关键词： Propionic acidemia Autosomal recessive Propionyl-CoA carboxylase alpha subunit(PCCA)gene Preimplantation genetic testing Next-generation sequencing Embryo transfer

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Resolving Myopic Foveoretinal Detachment by Fovea-Saving Internal Limiting Membrane Peeling: A Case-Series Report

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Open Journal of Ophthalmology 2023年第1期13卷 106-121页

作者： Miguel angel Quiroz-Reyes Erick Andres Quiroz-gonzalez Miguel angel Quiroz-gonzalez Virgilio Lima-Gomez Oftalmologia Integral ABC Retina Department Medical and Surgical Assistance Institution (Nonprofit Organization) Affiliated with the Postgraduate Studies Division at the National Autonomous University of Mexico Mexico City Mexico Juarez Hospital Public Assistance Institution (Nonprofit Organization) Mexico City Mexico

Background: In highly myopic eyes, myopic foveoschisis (MF), the earliest stage of myopic traction maculopathy (MTM), is present in up to 34% of patients with pathologic myopia and slowly progresses to form foveoretinal detachment (FRD) or macular hole (MH) with or without macular hole retinal detachment (MHRD) as a part of its natural history. Aim: To describe the microstructural and functional results in three highly myopic eyes that underwent macular surgery for early-stage MTM. The last postoperative structural findings were correlated with the final vision and macular automated microperimetry evaluation. Methods: We retrospectively reviewed three highly myopic eyes that underwent successful fovea-saving internal limiting membrane (FS-ILM) macular surgery for chronic FRD at Oftalmologia Integral ABC, Mexico City, Mexico. We performed postoperative multimodal microstructural and functional evaluations, including SD-OCT, SS-OCT, and microperimetric macular examinations. Results: There was a substantial difference between best-corrected visual acuity (BCVA) preoperatively and postoperatively in all three cases. Postoperative surgery was associated with significant improvement in visual acuity confirmed using a paired-sample permutation test. The mean presurgical BCVA value (LogMAR;mean ± SE) was ~0.83 ± 0.15, and the postsurgical value was ~0.43 ± 0.52 (P = 0.00065). The myopic foveoretinal detachment evaluation was ~7.3 ± 3.5 months, with a mean postoperative follow-up time of ~14 ± 4.08 months. Furthermore, postoperative multimodal imaging tests demonstrated an abnormal microstructural foveal SS-OCT pattern without evidence of macular hole (MH) development at the postoperative follow-up. Macular microperimetry confirmed a subclinical reduced macula threshold sensitivity with an anomalous retinal sensitivity analysis map and a stable central foveal fixation site. Conclusions: Even with the successful microstructural disappearance of myopic macular detachment, the

关键词： Automated Microperimetry Myopic Foveoretinal Detachment Myopic Foveoschisis Myopic Macular Hole Myopic Traction Maculopathy Posterior Staphyloma

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Parental perception of child's weight,their attitudes towards child's dietary habits and the risk of obesity

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World Journal of Pediatrics 2022年第7期18卷 482-489页

作者： Lorena Garcia-Blancol Arantxa Berasaluce Andrea Romanos-Nanclares Miguel angel Martinez-gonzalez Laura Moreno-Galaraga Nerea Martin-Calvo San Juan Primary Care Health Center.Servicio Navarro de Salud-Osasunbidea PamplonaSpain IdisNA.Instituto de Investigacion Sanitaria de Navrra.Pamplona Spain Department of Preventive Medicine and Public Health School of Medicine.University of NavarraC/Irunlarrea l.31080 Pamplona.Spain Biomedical Research Centre Network On Obesity and Nutrition(CIBERobn).Physiopathology of Obesity and NutritionInstituteof Health Carlos Ⅲ.Av.Monforte de Lemos.3-528029 MadridSpain Department of Nutrition.Harvard T.H.Chan School of Public Health Boston.MA 02115.USA Department of Pediatrices.Complejo Hospialario de Navarra B.Pamplona.Spain

Background The association between parental perception of child's weight and their attitudes towards his/her dietary habits has not been reported *** study aimed to assess the association between parental underestimation of child's weight and parental attitudes towards child's dietary *** We conducted a cross-sectional analysis of SENDO cohort participants recruited between January 2015 and June *** information was collected through online questionnaires completed by *** calculated crude and multivariable-adjusted odds ratio(OR)and 95%confidence intervals(CI)for unhealthy attitudes towards child's dietary habits associated with parental underestimation of child's *** Sixteen percent of children in the SENDO project had parents who underestimated their *** who under-estimated their child's weight status were more likely to have unhealthy attitudes toward his/her dietary habits[OR 3.35;95%CI(1.71-6.53)].Conclusions Parental underestimation of child's weight was associated with unhealthy attitudes towards child's dietary *** and public health practitioners should pay attention to the parental perception of child's weight to identify parents who underestimate it as an at-risk group in which to inquire about lifestyle and dietary habits.

关键词： Childhood obesity Dietary atitudes Eating habits Overweight Weight perception

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Receptor for advanced glycation end-products axis and coronavirus disease 2019 in inflammatory bowel diseases:A dangerous liaison?

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World Journal of Gastroenterology 2021年第19期27卷 2270-2280页

作者： Armando Rojas Ivan Schneider Cristian Lindner Ileana gonzalez Miguel angel Morales Medicine Faculty Catholic University of MauleTalca 3634000Chile Department of Molecular and Clinical Pharmacology Program Institute of Biomedical SciencesUniversity of ChileSantiago 8320000Chile

Compelling evidence supports the crucial role of the receptor for advanced glycation end-products(RAGE)axis activation in many clinical *** the beginning of the coronavirus disease 2019 pandemic,there is an increasing concern about the risk and handling of severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)infection in inflammatory gastrointestinal disorders,such as inflammatory bowel diseases(IBD).However,clinical data raised during pandemic suggests that IBD patients do not have an increased risk of contracting SARS-CoV-2 infection or develop a more severe course of *** the present review,we intend to highlight how two potentially important contributors to the inflammatory response to SARS-CoV-2 infection in IBD patients,the RAGE axis activation as well as the cross-talk with the renin-angiotensin system,are dampened by the high expression of soluble forms of both RAGE and the angiotensin-converting enzyme(ACE)*** soluble form of RAGE functions as a decoy for its ligands,and soluble ACE2 seems to be an additionally attenuating contributor to RAGE axis activation,particularly by avoiding the transactivation of the RAGE axis that can be produced by the virus-mediated imbalance of the ACE/angiotensin II/angiotensin II receptor type 1 pathway.

关键词： COVID-19 Inflammatory bowel diseases Advanced glycation Angiotensinconverting enzyme 2 Alarmins Receptor for advanced glycation end-products Receptor for advanced glycation end-products axis Inflammation

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A Plant Immune Receptor Degraded by Selective Autophagy

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Molecular Plant 2019年第1期12卷 113-123页

作者： Fan Yang Athen N.Kimberlin Christian G.Elowsky Yunfeng Liu ariadna gonzalez-Solis Edgar B.Cahoon James R.Alfano Department of Plant Pathology University of NebraskaLincolnNE 68588-0722USA Center for Plant Science Innovation University of NebraskaLincolnNE 68588-0660USA Department of Bioohemistry University of NebraskaLincolnNE 68588-0664US Center for Biotechnology University of NebraskaLincolnNE 68588-0665USA present address:Department of Biochemistry University of MissouriColumbiaMQ 65211USA Present address:College of Life Science and Technology University of GuangxiNanning 530004China

Plants recycle non-activated immune receptors to maintain a functional immune *** Arabidopsis immune receptor kinase FLAGELLIN-SENSING 2 (FLS2)recognizes bacterial ***,the molecular mechanisms by which non-activated FLS2 and other non-activated plant PRRs are recycled remain not well ***,we provide evidence showing thatArabidopsis orosomucoid (ORM)proteins,which have been known to be negative regulators of sphingoUpid biosynthesis,act as selective autophagy receptors to mediate the degradation of *** plants overexpressing ORM 1 or ORM2 have undetectable or greatly diminished FLS2 accumulation,nearly lack FLS2 signaling,and are more susceptible to the bacterial pathogen Pseudomonas *** the other hand,ORM1/2 RNAi plants and orml or orrn2 mutants generated by the CRISPR/Cas9-mediated gene editing have increased FLS2 accumulation and enhanced FLS2 signaling,and are more resistant to *** proteins interact with FLS2 and the autophagy-related protein ***,overexpression of ORM1 or ORM2 in autophagydefective mutants showed FLS2 abundance that is comparable to that in wild-type ***, FLS2 levels were not decreased in Arabidopsis plants overexpressing ORM1/2 derivatives that do not interact with *** together,these results suggest that selective autophagy functions in maintaining the homeostasis of a plant immune receptor and that beyond sphingolipid metabolic regulation ORM proteins can also act as selective autophagy receptors.

关键词： Plant immunity selective autophagy pattern recognition receptor selective autophagy receptors

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Segmental arterial mediolysis, reparative phase: An analysis and case report showing conversion to fibromuscular dysplasia with renal infarction

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World Journal of Cardiovascular Diseases 2014年第2期4卷 50-60页

作者： Richard E. Slavin Julian del Cerro gonzalez Jose Manuel Machin angel Robles Rita Maria Regojo Marie Luisa Diez Department of Internal Medicine La Paz University Hospital Madrid Spain Department of Internal Medicine University Hospital Guadalajara Spain Department of Pathology Legacy Emanuel Hospital Portland Oregon USA Department of Pathology University Hospital Guadalajara Spain Family Practice Physician Guadalajara Health Center Cervantes Branch Guadalajara Spain Interventional Radiologist University Hospital Guadalajara Spain

Segmental arterial mediolysis (SAM), an uncommon arteriopathy putatively caused by norepinephrine released by alpha-1 adrenergic agonists or some Beta-2 agonists capable of releasing norepinephrine from the peripheral sympathetic nervous system potentially can present ischemic and organ injury symptoms caused by sequelae created in its reparative phase in lieu of catastrophic hemorrhages announced in its injurious phase. The case documents this presentation—the patient presenting renal infarcts and ischemic lesions causing abdominal angina, hypertension and a nephrectomy event developing 10 years after prolonged ritodrine treatment for premature labor. This agent may have directly caused SAM or sensitized the patient to agonists causing SAM encountered at a latter date. A variety of lesions derived from injurious phase arterial injuries characterize reparative phase SAM. All were encountered in a hilar branch of the resected renal artery. These included side-by-side sequela aneurysms grossly forming a large fusiform aneurysm, granulation tissue filling adventitial medial tear spaces in which a dissecting hematomas developed, medial muscle loss centered to the outer media repaired with fibrous tissue, arterial stenosis created by reparative intimal plaques, and arterial thrombo-embolism. These lesions were mirrored in accompanying radiologic studies. The accompanying renal vein exhibited changes consistent with repair of the spastic venous angiopathy that often accompanies abdominal SAM. This angiopathy, putatively induced by Endothelin-1, suggested that this agent played a role in the genesis of the arterial lesions. Angiographic resolution of non-treated sequelae occurred in 5 months either spontaneously or due to treatment with bosentem. Conclusions: The histologic and angiographic changes demonstrate that the clinical onset of reparative SAM may be significantly delayed to produce ischemic lesions, renal infarction and in this case report, medial fibromuscular dy

关键词： Segmental Arterial Mediolysis Fibromuscular Dysplasia Ritodrine Renal Infarcts Dissecting Hematoma Intestinal Angina Endothelin-1 Bosentem

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