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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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Patients’ Experiences of Trust in the Patient-Nurse Relationship——A Systematic Review of Qualitative Studies

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Open Journal of Nursing 2015年第3期5卷 195-209页

作者： Kristine Rortveit Britt satre Hansen Ingrid Leiknes Inge Joa Ingelin Testad Elisabeth Severinsson Stavanger University Hospital StavangerNorway Department of Health Studies Faculty of Social SciencesUniversity of StavangerStavangerNorway Centre for Movement Disorders Stavanger University HospitalStavangerNorway Division of Psychiatry Regional Centre for Clinical Research in PsychosisStavanger University HospitalStavangerNorway Regional Centre for Age-Related Medicine(SESAM) Stavanger University HospitalStavangerNorway Department of Research Stavanger University HospitalStavangerNorway

Aims and Objectives: To report a synthesis of the literature on the meaning of trust in the context of patients’ experiences of nursing. The review question was “How do patients describe the meaning of trust in the nursing relationship?” Background: Trust is essential in nursing as it has the potential to create opportunities for the human being to gain faith, hope and meaning in life as well as open up for new experiences. Trust is an interpersonal and essential element of all patient-nurse relationships and requires nurses to create a trusting relationship with the patients. Design: Systematic qualitative literature review. Methods: Systematic searches were conducted for the period January 2002 to December 2012, updated in January 2014. 20 papers were included. Results: Four categories emerged: Attitudes related to trust, indicating that trust is fundamental and existential;Experiences of trust, concerning how trust can be sensed;The patient-nurse relationship, revealing the qualities of the person who creates trust;and Where trust occurs, illuminating the contextual relevancies of trust. Conclusions: Patients’ experiences of trust in nursing are dependent on the nurses’ knowledge, level of commitment in the dialogue to creating and developing the relationship and contextual issues. Implications for nursing practice: Reflection on a trusting relationship with the patient is necessary for a deeper conceptual understanding of trust in nursing. Clinical nurse researchers nurse supervisors, managers and nurse educatorsshould discuss different areas of trust during nursing supervision and focus-group meetings as well as with nursing graduates to ensure that nurses develop knowledge of how to create a trusting patient-nurse relationship.

关键词： Patient-Nurse Relationship Patient Experience Qualitative Literature Review Trust

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