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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

偏远及农村地区卫生人力留用计划成本分析技术框架

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中国卫生政策研究 2011年第12期4卷 10-17页

作者： Pascal Zurn Marko Vujicic christophe Lemiere Maud Juquois Laura Stormont Jim Campbell Martin Rutten jean-Marc Braichet 马达飞(翻译) 李秋霖(翻译) 李晓燕(翻译) 张光鹏(审校) 世界卫生组织瑞士日内瓦世界银行美国华盛顿世界银行塞内加尔达喀尔 DE Cooperacion社会研究所西班牙巴塞罗那雷瓦赫宁根大学荷兰海牙卫生部人才交流服务中心

背景:通过加强卫生人力留用以提高偏远和农村地区卫生人力的可及性,对于人口健康至关重要。然而,此类干预措施有关成本方面的信息往往零散、不全面、甚至缺失。政策措施的成本分析对于政策的选择、规划、实施和评估至关重要,但是由于缺... 详细信息

背景:通过加强卫生人力留用以提高偏远和农村地区卫生人力的可及性,对于人口健康至关重要。然而,此类干预措施有关成本方面的信息往往零散、不全面、甚至缺失。政策措施的成本分析对于政策的选择、规划、实施和评估至关重要,但是由于缺少成本分析的系统方法,为卫生政策制定和决策带来了严峻的挑战。方法:本文提出了提高偏远及农村地区卫生人力可及性政策干预措施的成本分析实施框架,旨在为卫生政策决策者提供帮助。同时,该框架也强调了确定财政的主要来源和财政资金可持续性的重要性。文章对加强边远农村地区卫生人力留用相关政策措施的成本分析进行了文献综述,为此类干预措施的成本分析提供了指导框架,并进一步调查分析了成本分析在整个卫生人力规划与管理中的角色与重要意义。结果:尽管对于人力留用相关政策措施效益的争论得到越来越多的关注,但如何对此类政策措施进行成本分析,目前仍缺乏相关的知识与证据。为了解决这个问题,文章提出了实施成本分析框架的关键要素,并对此进行讨论分析。结论:这些关键要素能够帮助决策者对政策措施有更加深入的了解,明晰与理解财政来源和运行机制,同时确保财政资金的可持续性。

关键词：卫生人力资源偏远及农村地区留用成本分析技术框架

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足球:一种全民信仰

中国国家旅游 2013年第8期 112-116页

作者： jean-Marc GONIN 张蔷 christophe Pillitze-Figaro Photo-Dragonlmage

间隔了半个多世纪之后，2014年6月，男足世界杯将再次在巴西举行。从举国欢庆到万民同悲，足球牵动着每个巴西人的心弦。这项运动在巴西被推崇到了极致，巴西足协主席说：“足球对于巴西人来说，甚至超越了生存的重要性。”

关键词：足球巴西世界杯

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杜泽林的中国民艺

年画研究 2018年第1期6卷 73-77页

作者：柯孟德胡嘉兴巴黎人类学博物馆

OMDP(? Marches Du Palais)文化中心原本是建于1865年的一座美轮美奂的礼拜堂,在罗代夫市(Lodève)古城区的中心,位于以雕塑家保罗·达尔德(Paul Dardé)命名的集市后面。这座建筑的主人是让—克里斯多夫·米罗诺(jean christophe Miron... 详细信息

OMDP(? Marches Du Palais)文化中心原本是建于1865年的一座美轮美奂的礼拜堂,在罗代夫市(Lodève)古城区的中心,位于以雕塑家保罗·达尔德(Paul Dardé)命名的集市后面。这座建筑的主人是让—克里斯多夫·米罗诺(jean christophe Mironneau),他是雕塑家出身,十几年来对这个建筑不断地进行修复,形成了三层楼近乎900平方米的空间,以便在这里举办各种丰富多彩的活动。多年来,他一直鼓励在这里举办关于西方和东方文化圈的艺术展览。

关键词：自然历史博物馆

Petawatt and exawatt class lasers worldwide

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High Power Laser Science and Engineering 2019年第3期7卷 168-221页

作者： Colin N.Danson Constantin Haefner Jake Bromage Thomas Butcher jean-christophe FChanteloup Enam A.Chowdhury Almantas Galvanauskas Leonida A.Gizzi Joachim Hein David I.Hillier Nicholas W.Hopps Yoshiaki Kato Efim A.Khazanov Ryosuke Kodama Georg Korn Ruxin Li Yutong Li Jens Limpert Jingui Ma Chang Hee Nam David Neely Dimitrios Papadopoulos Rory R.Penman Liejia Qian Jorge J.Rocca andrey A.Shaykin Craig W.Siders christopher Spindloe Sándor Szatmári Raoul M.G.M.Trines Jianqiang Zhu Ping Zhu Jonathan D.Zuegel AWE AldermastonReadingUK OxCHEDS Clarendon LaboratoryDepartment of PhysicsUniversity of OxfordOxfordUK CIFS Blackett LaboratoryImperial CollegeLondonUK NIF&Photon Science Directorate Lawrence Livermore National LaboratoryLivermoreUSA Fraunhofer Institute for Laser Technology(ILT) AachenGermany Chair for Laser Technology LLT RWTH Aachen UniversityAachenGermany University of Rochester Laboratory for Laser EnergeticsRochesterUSA Central Laser Facility STFC Rutherford Appleton LaboratoryChiltonDidcotUK LULI CNRSCEASorbonne UniversitesEcole PolytechniqueInstitut Polytechnique de ParisPalaiseauFrance Department of Physics The Ohio State UniversityColumbusUSA Centre for Ultrafast Optical Science University of MichiganAnn ArborUSA Intense Laser Irradiation Laboratory Istituto Nazionale di Ottica(INO)CNRPisaItaly Institute of Optics and Quantum Electronics Friedrich-Schiller-University Jena and Helmholtz InstituteJenaGermany The Graduate School for the Creation of New Photonics Industries NishikuHamamatsuJapan Institute of Applied Physics Russian Academy of SciencesNizhny NovgorodRussia Institute of Laser Engineering Osaka UniversitySuitaOsakaJapan ELI-Beamlines Institute of PhysicsCzech Academy of SciencesPragueCzech Republic State Key Laboratory of High Field Laser Physics Shanghai Institute of Optics and Fine MechanicsChinese Academy of SciencesShanghai 201800China National Laboratory for Condensed Matter Physics Institute of PhysicsChinese Academy of SciencesBeijing 100190China Institute for Applied Physics(IAP)at Friedrich-Schiller-University Jena JenaGermany Helmholtz Institute Jena JenaGermany Fraunhofer Institute for Applied Optics and Precision Engineering(IOF) JenaGermany Key Laboratory for Laser Plasma(Ministry of Education) School of Physics and AstronomyShanghai Jiao Tong UniversityShanghai 200240China Centre for Relativistic Laser Science(CoReLS) Institute for Basic ScienceDepartment of Physics and Photon ScienceGwangju Institute of Science and Techno

In the 2015 review paper‘Petawatt Class Lasers Worldwide’a comprehensive overview of the current status of highpower facilities of>200 TW was *** was largely based on facility specifications,with some description of their uses,for instance in fundamental ultra-high-intensity interactions,secondary source generation,and inertial confinement fusion(ICF).With the 2018 Nobel Prize in Physics being awarded to Professors Donna Strickland and Gerard Mourou for the development of the technique of chirped pulse amplification(CPA),which made these lasers possible,we celebrate by providing a comprehensive update of the current status of ultra-high-power lasers and demonstrate how the technology has *** are now in the era of multi-petawatt facilities coming online,with 100 PW lasers being proposed and even under *** addition to this there is a pull towards development of industrial and multi-disciplinary applications,which demands much higher repetition rates,delivering high-average powers with higher efficiencies and the use of alternative wavelengths:mid-IR *** apart from a comprehensive update of the current global status,we want to look at what technologies are to be deployed to get to these new regimes,and some of the critical issues facing their development.

关键词： exawatt lasers high-power lasers petawatt lasers ultra-high intensity

脑钠素:重症败血症中心肌功能不良和预后的标志

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世界医学杂志 2004年第7期8卷 61-61页

作者： Charpentier,Julien Luyt,Charles-Edouard Fulla,Yvonne Vinsonneau,christophe Cariou,Alain Grabar,Sophie Dhainaut,jean-Fran?ois Mira,jean-Paul Chiche,jean-Daniel 杨宏梅(译)

Subclinical proximal tubulopathy in hepatitis B:The roles of nucleot(s)ide analogue treatment and the hepatitis B virus

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World Journal of Hepatology 2020年第12期12卷 1326-1340页

作者： Anais Brayette Marie Essig Paul Carrier Marilyne Debette-Gratien Anais Labrunie Sophie Alain Marianne Maynard Nathalie Ganne-Carrie Eric Nguyen-Khac Pauline Pinet Victor De Ledinghen christophe Renou Philippe Mathurin Claire Vanlemmens Vincent Di Martino Anne Gervais Juliette Foucher Fouchard-Hubert Isabelle Julien Vergniol Isabelle Hourmand-Ollivier Daniel Cohen Xavier Duval Thierry Poynard Marc Bardou Armand Abergel Manh-Thong Dao Thierry Thevenot jean-Baptiste Hiriart Valerie Canva Guillaume Lassailly Christine Aurières Nathalie Boyer Dominique Thabut Pierre-Henri Bernard Matthieu Schnee Dominique Larrey Bertrand Hanslik Severine Hommel Jeremie Jacques Veronique Loustaud-Ratti U1248 INSERM Department of Hepatology and GastroenterologyUniv.LimogesCHU LimogesLimoges F-87000France U1248 INSERM Department of Nephrology and TransplantationCHU LimogesLimoges F-87000France Department of Center of Epidemiology Biostatistics and Research MethodologyCHU LimogesLimoges F-87000France U1092 INSERM Department of VirologyCHU LimogesLimoges F-87000France Department of Hepatology Croix-Rousse University Hospital of LyonLyon 69004France Department of Hepatology Jean Verdier University Hospital of BondyBondy 93140France Department of Hepato-Gastroenterology Amiens University HospitalAmiens 80054France Department of Infectious Diseases CHU LimogesLimoges F-87000France Department of Hepatology Haut Leveque HospitalBordeaux University HospitalPessac 33604France Department of Gastroenterology Hyeres HospitalHyeres 83407France Department of Hepato-Gastroenterology Claude Huriez University HospitalLille 59037France Department of Hepatology Jean Minjoz University HospitalBesançon 25030France Department of Infectious Diseases Bichat University HospitalParis 75018France Department of Hepatology University Hospital of AngersAngers 49933France Department of Hepato-Gastroenterology and Nutrition University Hospital of CaenCaen 14033France Department of General Medecine University Hospital of CaenCaen 14000France Department of Hepatology La Pitié-Salpêtrière University HospitalParis 75651France Department of Hepatology and Gastroenterology Dijon University HospitalDijon 21079France Department of Hepatology and Gastroenterology Estaing University HospitalClermont Ferrand 63003France Department of Hepatology Beaujon University HospitalClichy 92110France Department of Hepatology Saint-AndréUniversity HospitalBordeaux 33000France Department of Hepatology and Gastroenterology La Roche-Sur-Yon Hospital CenterLa Roche-Sur-Yon 85000France Department of Hepatology and Gastroenterology University Hospital of MontpellierMontpellier 34295France Department of Addictology Hospita

BACKGROUND The recommended monitoring tools for evaluating nucleot(s)ide analogue renal toxicity,such as estimated glomerular filtration rate(eGFR)and phosphatemia,are late markers of proximal *** early markers are available,but no consensus exists on their *** To determine the 24 mo prevalence of subclinical proximal tubulopathy(SPT),as defined with early biomarkers,in treated vs untreated hepatitis B virus(HBV)-monoinfected *** A prospective,non-randomized,multicenter study of HBV-monoinfected patients with a low number of renal comorbidities was *** patients were separated into three groups:Naïve,starting entecavir(ETV)treatment,or starting tenofovir disoproxil(TDF)*** on the early markers of SPT,the eGFR and phosphatemia,were collected *** was defined as a maximal tubular reabsorption of phosphate/eGFR below 0.8 mmoL/L and/or uric acid fractional excretion above 10%.The prevalence and cumulative incidence of SPT at month 24(M24)were *** data were analyzed using analyses of variance or Kruskal-Wallis tests,whereas chi-squared or Fisher’s exact tests were used to analyze qualitative *** analyses were used to adjust for any potential confounding *** Of the 196 patients analyzed,138(84 naïve,28 starting ETV,and 26 starting TDF)had no SPT at *** M24,the prevalence of SPT was not statistically different between naïve and either treated group(21.1%vs 30.7%,P<0.42 and 50.0%vs 30.7%,P=0.32 for ETV and TDF,respectively);no patient had an eGFR lower than 50 mL/min/1.73 m²or phosphatemia less than 0.48 mmoL/*** the multivariate analysis,no explanatory variables were identified after *** cumulative incidence of SPT over 24 mo(25.5%,13.3%,and 52.9%in the naïve,ETV,and TDF groups,respectively)tended to be higher in the TDF group vs the naïve group(hazard ratio:2.283,P=0.05).SPT-free survival at M24 was 57.6%,68.8%,and 23.5%for the naïve,ETV,and TD

关键词： Hepatitis B virus Proximal tubulopathy Biomarkers Renal insufficiency Nucleoside analogues

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《牛津传记史》主编扎卡里·里德尔谈话录

现代传记研究 2022年第1期 1-11页

作者：让-路易·让奈尔布鲁诺·特里布扎卡里·里德尔索邦大学阿伯丁大学不详

访谈背景:“自我书写”是让-路易·让奈尔与让-克利斯朵夫·伊加兰斯共同主持的项目(CELLF 16-21,索邦大学),其目的之一是对欧洲各国传记的研究现状展开调查。在该项目工作中,我们采访了《牛津传记史》主编扎卡里·里德尔。

关键词：自我书写克利斯朵夫里德尔谈话录传记欧洲各国研究现状奈尔

The Genomic Variation of 3,000 diverse Rice (Oryza sativa L.)Accessions:Discoveries And Applications In Rice Improvement

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The Genomic Variation of 3,000 diverse Rice (Oryza sativa L....