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Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters

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Journal of Genetics and Genomics 2023年第7期50卷 536-540页

作者： Alicia Coudert Caroline Cazin Amir Amiri-Yekta Selima Fourati Ben Mustapha Raoudha Zouari Julien Bessonat Abdelali Zoghmar Antoine Clergeau Catherine Metzler-Guillemain Chema Triki Herve Lejeune Nathalie Sermondade eva pipiras Nadia Prisant Isabelle Cedrin Leila Keskes Florence Lestrade Laetitia Hesters Nathalie Rives Beatrice Dorphin Agnes Guichet Catherine Patrat Emmanuel Dulioust Aur elie Feraille Franc ois Robert Eric Bieth Arthur Sorlin Jean-Pierre Siffroi Mariem Ben Khelifa Florence Boiterelle Sylvianne Hennebicq Veronique Satre Christophe Arnoult Charles Coutton Anne-Laure Barbotin Nicolas Thierry-Mieg Zine-Eddine Kherraf Pierre F.Ray Genetic Epigenetic and Therapies of Infertility Team Institute for Advanced BiosciencesInserm U 1209CNRS UMR 5309Universite Grenoble Alpes38000GrenobleFrance CHU Grenoble Alpes UM GI-DPI38000GrenobleFrance CHU Grenoble Alpes UM de Genetique Chromosomique38000GrenobleFrance Department of Genetics Reproductive Biomedicine Research CenterRoyan Institute for Reproductive BiomedicineACECRTehranIran Polyclinique les Jasmins Centre d’Aide M edicale a la Procr eationCentre Urbain Nord1003TunisTunisia CHU Grenobles Alpes UF de Biologie de la Procr eation38000GrenobleFrance Reproduction Sciences and Surgery Clinique Ibn RochdConstantineAlgeria CHU Caen CECOS de CaenD epartement de BiologieUnit e de Biologie de la Reproduction14033CaenFrance APHM Hopital La-Conception P^ole Femmes-parents-enfantsCentre Clinico-biologique d’assistance M edicale a la Procr eation-CECOS13385 MarseilleFrance Aix-Marseille Univ InsermMMGU125113385 Marseille Medical Genetics13385 MarseilleFrance Clinique Hannibal Centre d’AMPLes Berges du Lac1053TunisTunisia Reproductive Medicine Department Hospices Civil de LyonLyonFrance Hopital Jean Verdier Universit e Sorbonne Paris NordParisFrance CHU de Pointe-a-Pitre/Abymes GuadeloupeFrance Service de Medecine de la Reproduction CHU Jean VerdierParisFrance Faculte de M edecine de Sfax SfaxTunisia CHR Metz-Thionville Service d’Assistance Medicale a la Procr eation57530Ars-LaquenexyFrance Unit of Reproductive Biology Antoine B ecl ere University HospitalUniversity Paris SudClamartParis-Sud UniversityLe Kremlin Bic^etreFrance Univ Rouen Normandie Inserm U1239NorDICAdrenal and Gonadal PathophysiologyReproductive Biology Laboratory-CECOSRouen University Hospital76031Rouen CedexFrance CHAL Centre Hospitalier Alpes Leman Centre AMP7474130Contamine-sur-ArveFrance CHU Angers Service de Gen etique49933AngersINSERM U1083France Service de Biologie de la Reproduction-CECOS Hopital Cochin 74014ParisFrance IRH Medicentre Clinique du Val d’Ouest39

Macrozoospermia,characterized by the presence of largeheaded spermatozoa usually carrying several flagella,is one of the most severe phenotypes of male *** in most cases,the gametes are chromosomally abnormal and cannot be used for assisted reproductive technologies(ART)(Ray et al.,2017).In 2007,subjects from consanguineous families were shown to carry the same homozygous deleterious AURKC variant(NM_001015878.2:c.144delC,later renamed c.145delC,***49TrpfsTer23),establishing AURKC as the first and main gene associated with macrozoospermia(Dieterich et al.,2007).Using flow cytometry,all spermatozoa from patients homozygous for the c.145delC variant were shown to be tetraploid,highlighting a cytokinesis blockage of the first meiotic divisions thus confirming that ART cannot be successful for these patients(Dieterich et al.,2009).

关键词： diagnosis establishing

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Genetic signatures of ERCC1 and ERCC2 expression,along with SNPs variants,unveil favorable prognosis in SCLC patients undergoing platinum-based chemotherapy

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Oncology Research 2025年第1期33卷 45-55页

作者： ENRICO CALIMAN SARA FANCELLI FEDERICO SCOLARI ADRIANO PASQUI CLARA MANNESCHI DANIELE LAVACCHI FRANCESCA MAZZONI FRANCESCA GENSINI VALERIA PASINI CAMILLA eva COMIN LUCA VOLTOLINI SERENA PILLOZZI LORENZO ANTONUZZO Clinical Oncology Unit Careggi University HospitalFlorence50134Italy Department of Experimental and Clinical Medicine University of FlorenceFlorence50134Italy Department of Health Sciences University of FlorenceFlorence50134Italy Medical Oncology Unit Careggi University HospitalFlorence50134Italy Department of Experimental and Clinical Biomedical Sciences“Mario Serio” University of FlorenceFlorence50134Italy Section of Anatomic Pathology Department of Health SciencesUniversity of FlorenceFlorence50139Italy Section of Surgery Histopathology and Molecular PathologyUniversity of FlorenceFlorence50139Italy Thoracic Surgery Unit Careggi University HospitalFlorence50134Italy

Background:Platinum chemotherapy(CT)remains the backbone of systemic therapy for patients with smallcell lung cancer(SCLC).The nucleotide excision repair(NER)pathway plays a central role in the repair of the DNA damage exerted by platinum *** in this repair mechanism may affect patients’*** and Methods:We conducted a retrospective analysis of data from 38 patients with extensive disease(ED)-SCLC who underwent platinum-CT at the Clinical Oncology Unit,Careggi University Hospital,Florence(Italy),from 2015 to *** expression analysis and single nucleotide polymorphism(SNP)characterization of three NER pathway genes—namely ERCC1,ERCC2,and ERCC5—were performed on patient tumor ***:Overall,elevated expression of ERCC genes was observed in SCLC patients compared to healthy *** with low ERCC1 and ERCC5 expression levels exhibited a better median progression-free survival(mPFS=7.1 vs.4.9 months,p=0.39 for ERCC1 and mPFS=6.9 vs.4.8 months,p=0.093 for ERCC5)and overall survival(mOS=8.7 vs.6.0 months,p=0.4 for ERCC1 and mOS=7.2 vs.6.2 months,p=0.13 for ERCC5).Genotyping analysis of five SNPs of ERCC genes showed a longer survival in patients harboring the wild-type genotype or the heterozygous variant of the ERCC1 rs11615 SNP(p=0.24 for PFS and p=0.14 for OS)and of the rs13181 and rs1799793 ERCC2 SNPs(p=0.43 and p=0.26 for PFS and p=0.21 and p=0.16 for OS,respectively)compared to patients with homozygous mutant ***:The comprehensive analysis of ERCC gene expression and SNP variants appears to identify patients who derive greater survival benefits from platinum-CT.

关键词： Small cell lung cancer(SCLC) Nucleotide excision repair(NER)pathway ERCC genes Single nucleotide polymorphisms(SNPs) Platinumchemotherapy(CT)

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Language Education Optimization: A New Human-Based Metaheuristic Algorithm for Solving Optimization Problems

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Computer Modeling in Engineering & Sciences 2023年第8期136卷 1527-1573页

作者： Pavel Trojovsky Mohammad Dehghani eva Trojovská eva Milkova Department of Mathematics Faculty of ScienceUniversity of Hradec KrálovéHradec Králové50003Czech Republic Department of Applied Cybernetics Faculty of ScienceUniversity of Hradec KrálovéHradec Králové50003Czech Republic

In this paper,based on the concept of the NFL theorem,that there is no unique algorithm that has the best performance for all optimization problems,a new human-based metaheuristic algorithm called Language Education Optimization(LEO)is introduced,which is used to solve optimization *** is inspired by the foreign language education process in which a language teacher trains the students of language schools in the desired language skills and *** is mathematically modeled in three phases:(i)students selecting their teacher,(ii)students learning from each other,and(iii)individual practice,considering exploration in local search and exploitation in local *** performance of LEO in optimization tasks has been challenged against fifty-two benchmark functions of a variety of unimodal,multimodal types and the CEC 2017 test *** optimization results show that LEO,with its acceptable ability in exploration,exploitation,and maintaining a balance between them,has efficient performance in optimization applications and solution *** efficiency in optimization tasks is compared with ten well-known metaheuristic *** of the simulation results show that LEO has effective performance in dealing with optimization tasks and is significantly superior andmore competitive in combating the compared *** implementation results of the proposed approach to four engineering design problems show the effectiveness of LEO in solving real-world optimization applications.

关键词： Optimization language education exploration exploitation metaheuristic algorithm

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Utilization of fly ash from coal-fired power plants in China

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Journal of Zhejiang University-Science A(Applied Physics & Engineering) 2008年第5期9卷 681-687页

作者： eva SELIC Jan-Dirk HERBELL Waste Management Engineering Department of Mechanical Engineering University of Duisburg-Essen Duisburg 47057 Germany

The rapidly increasing demand for energy in China leads to the construction of new power plants all over the country. Coal, as the main fuel resource of those power plants, results in increasing problems with the disposal of solid residues from combustion and off gas cleaning. This investigation describes chances for the utilization of fly ash from coal-fired power plants in China. After briefly comparing the situation in China and Germany, the status of aluminum recycling from fly ash and the ad- vantages for using fly ash in concrete products are introduced. Chemical and physical analyses of Chinese fly ash samples, e.g., X-ray diffraction (XRD), ICP (Inductive Coupled Plasma) and particle size analysis, water requirement, etc. are presented. Rea- sonable amounts of aluminum were detected in the samples under investigation, but for recovery only sophisticated procedures are available up to now. Therefore, simpler techniques are suggested for the first steps in the utilization of Chinese fly ash.

关键词： Fly ash utilization Aluminum recycling Concrete Chemical and physical analyses

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Characterisation of the granular dynamics at the interface between a pipe and a granular flow in a rotating drum

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Particuology 2024年第3期86卷 117-125页

作者： Francois Rioual Paule Emmanuelle eva Gbehe Research Unit FRISE National Research Institute for Agriculture Food and the Environment1 Rue Pierre Gilles De Gennes92160AntonyFrance

A new mobile bed heat exchanger is presented in this work which is composed of a flowing granular material in a rotating drum and a cylindrical pipe with potential interest in different energy applications as cooling,heating or heat recovery *** optimal design of the device requires a characterisation of the phenomena involved at the interface between the granular flow and the *** process is modelled by the discrete element method and a global classification of the flow patterns around the pipe is presented with respect to the three main control parameters of the problem:the Froude number,the diameter ratio and the relative filling height of the *** second part is devoted to the characterisation of the structure of the flow at the interface(velocity field,density field)in particular in a so-called Biflow regime where granular motion occurs above as well as below the pipe which is favourable to transfer by convection.A typical behavior at the interface with the pipe consists of a zone I with high velocities of particles at the top of the pipe,a second zone with quasistatic particles or low velocity particles at the front and at the bottom of the pipe and a last zone ll of depletion of particles at the back of the *** Froude number has a limited effect on the features of this structure on the first layer in the range of Froude numbers considered whereas the relative height is a more determinant parameter to control the relative magnitude of velocities in zone I and zone Il as well as the extent of the depletion *** first hydrodynamical characterisation can shed light on the dynamical regimes with improved transfer between the particles and the pipe boundary.

关键词： Granular flow Transfer Heat exchange Mobile bed Boundary condition

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Aquaporin 5 in Alzheimer’s disease:a link between oral and brain pathology?

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Neural Regeneration Research 2023年第7期18卷 1491-1492页

作者： Cristina Municio eva Carro Group of Neurodegenerative Diseases Hospital Universitario 12 de Octubre Research Institute(imas12)MadridSpain Network Center for Biomedical Research in Neurodegenerative Diseases(CIBERNED) Instituto de Salud Carlos IIIMadridSpain Neurobiology of Alzheimer’s Disease Unit Functional Unit for Research into Chronic DiseasesInstituto de Salud Carlos IIIMadridSpain

The involvement of aquaporins(AQPs)in the development of diseases has been widely described(Azad et al.,2021).AQP5 has been described in astrocytes changing after traumatic brain injuries(Chai et al.,2013),but the precise role of AQP5 in Alzheimer’s disease(AD)pathology is yet to be *** have recently reported that AQP5 expression changes during the development of AD(Antequera et al.,2022).The AQP5 expression in salivary glands is decreased in 6-month-old APP/PS1 mice and AD *** decrease in AQP5 expression could be involved in the mechanism of salivary gland dysfunction described in a previous study(Antequera et al.,2021).Now,we propose a new indirect role of AQP5 in the connection between infection-induced oral dysbiosis and AD(Sureda et al.,2020).Here,we suggest that the proinflammatory response induced by oral pathogen infection results in the downregulation of AQP5 contributing to the salivary gland secretory *** these alterations destabilize the peripheral immune-inflammatory balance and exacerbate neuroinflammation and neurodegeneration leading to AD pathology.

关键词： salivary pathology Alzheimer

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Promoting axon regeneration in the central nervous system by increasing PI3-kinase signaling

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Neural Regeneration Research 2022年第6期17卷 1172-1182页

作者： Bart Nieuwenhuis Richard eva John van Geest Center for Brain Repair Department of Clinical NeurosciencesUniversity of CambridgeCambridgeUK

Much research has focused on the PI3-kinase and PTEN signaling pathway with the aim to stimulate repair of the injured central nervous *** in the central nervous system fail to regenerate,meaning that injuries or diseases that cause loss of axonal connectivity have life-changing *** 2008,genetic deletion of PTEN was identified as a means of stimulating robust regeneration in the optic *** is a phosphatase that opposes the actions of PI3-kinase,a family of enzymes that function to generate the membrane phospholipid PIP_(3) from PIP_(2)(phosphatidylinositol(3,4,5)-trisphosphate from phosphatidylinositol(4,5)-bisphosphate).Deletion of PTEN therefore allows elevated signaling downstream of PI3-kinase,and was initially demonstrated to promote axon regeneration by signaling through *** recently,additional mechanisms have been identified that contribute to the neuron-intrinsic control of regenerative *** review describes neuronal signaling pathways downstream of PI3-kinase and PIP3,and considers them in relation to both developmental and regenerative axon *** briefly discuss the key neuron-intrinsic mechanisms that govern regenerative ability,and describe how these are affected by signaling through *** highlight the recent finding of a developmental decline in the generation of PIP_(3) as a key reason for regenerative failure,and summarize the studies that target an increase in signaling downstream of PI3-kinase to facilitate regeneration in the adult central nervous ***,we discuss obstacles that remain to be overcome in order to generate a robust strategy for repairing the injured central nervous system through manipulation of PI3-kinase signaling.

关键词： axon cytoskeleton axon regeneration axon transport cell signaling central nervous system growth cone neuroprotection PI3-kinase PI3K PTEN trafficking transcription translation

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Predicting the output error of the suboptimal state estimator to improve the performance of the MPC-based artificial pancreas

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Control Theory and Technology 2023年第4期21卷 541-554页

作者： Martin Dodek eva Miklovičová Institute of Robotics and Cybernetics Faculty of Electrical Engineering and Information TechnologySlovak University of Technology in BratislavaIlkovičova 3Bratislava81219Slovakia

The error of single step-ahead output prediction is the information traditionally used to correct the state estimate while exploiting the new measurement of the system ***,its dynamics and statistical properties can be further studied and exploited in other *** is known that in the case of suboptimal state estimation,this output prediction error forms a correlated sequence,hence it can be effectively predicted in real *** a suboptimal scenario is typical in applications where the process noise model is not known or it is ***,the paper deals with the problems of analytical and empirical modeling,identification,and prediction of the output error of the suboptimal state estimator for the sake of improving the output prediction accuracy and ultimately the performance of the model predictive *** improvements are validated on an empirical model of type 1 diabetes within an in-silico experiment focused on glycemia prediction and implementation of the MPC-based artificial pancreas.

关键词： Suboptimal state estimation Prediction Autoregressive model Moving average model Model predictive control Diabetes mellitus Artificial pancreas

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FTC of hidden Markov process with application to resource allocation in air operation

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Journal of Systems Engineering and Electronics 2011年第1期22卷 12-21页

作者： Neng eva Wu Matthew Charies Ruschmann Department of Electrical and Computer Engineering Binghamton UniversityState University of New York

This paper investigates the feedback control of hidden Markov process（HMP） in the face of loss of some observation *** control action facilitates or impedes some particular transitions from an inferred current state in the attempt to maximize the probability that the HMP is driven to a desirable absorbing *** control problem is motivated by the need for judicious resource allocation to win an air operation involving two opposing *** effectiveness of a receding horizon control scheme based on the inferred discrete state is *** to loss of sensors that help determine the state of the air operation is achieved through a decentralized scheme that estimates a continuous state from measurements of linear models with additive *** discrete state of the HMP is identified using three well-known detection *** sub-optimal control policy based on the detected state is implemented on-line in a closed-loop,where the air operation is simulated as a stochastic process with SimEvents,and the measurement process is simulated for a range of single sensor loss rates.

关键词： hidden Markov process(HMP) decentralization information fusion fault tolerant estimation air operation receding horizon control(RHC).

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Linking axon transport to regeneration using in vitro laser axotomy

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Neural Regeneration Research 2018年第3期13卷 410-412页

作者： Bart Nieuwenhuis Richard eva John van Geest Centre for Brain Repair Department of Clinical Neurosciences University of Cambridge Cambridge UK Laboratory for Regeneration of Sensorimotor Systems Netherlands Institute for Neuroscience Royal Netherlands Academy of Arts and Sciences (KNAW) Amsterdam The Netherlands

Spinal cord injury has devastating consequences because adult central nervous system （CNS） neurons do not regenerate their axons after injury. Two key reasons for axon regeneration fail- ure are extrinsic inhibitory factors and a low intrinsic capacity for axon regrowth. Research has therefore focused on overcom- ing extrinsic growth inhibition, and enhancing intrinsic regeneration capacity. Both of these issues will need to be addressed to enable optimal repair of the injured sp＋inal cord.

关键词： CNS ARF Linking axon transport to regeneration using in vitro laser axotomy EFA

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