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1. BPA disrupts meiosis I in oogonia by acting on pathways including cell cycle regulation, meiosis initiation and spindle assembly

Author: Benoit Loup, Elodie Poumerol, Luc Jouneau, Paul A. Fowler, Corinne Cotinot, Béatrice Mandon-Pépin, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), University of Aberdeen, European Project: 212885,EC:FP7:ENV,FP7-ENV-2007-1,REEF(2008), and European Project: 080388,WT::(2006)
Subjects: cumulus-oocyte complex, Meiosis I, Stimulated by Retinoic acid gene 8, COC, Toxicology, spindle assembly checkpoint, Organ culture, retinoic acid receptor agonist, Oogonia, Fetal ovary Organ culture Meiosis Oogonia BPA Sheep RA, Bisphenol A, Phenols, Retinoic acid, Animals, Humans, STRA8, Benzhydryl Compounds, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Sheep, Fetal ovary, days post coitum, PGC, SAC, DPC, BPA, Meiosis, primordial germ cell, Oocytes, Female, AM580
Abstract: International audience; The negative in utero effects of bisphenol A (BPA) on female reproduction are of concern since the ovarian reserve of primordial follicles is constituted during the fetal period. This time-window is difficult to access, particularly in humans. Animal models and explant culture systems are, therefore, vital tools for investigating EDC impacts on primordial germ cells (PGCs). Here, we investigated the effects of BPA on prophase I meiosis in the fetal sheep ovary. We established an in vitro model of early gametogenesis through retinoic acid (RA)-induced differentiation of sheep PGCs that progressed through meiosis. Using this system, we demonstrated that BPA (3 ×10-7 M & 3 ×10-5 M) exposure for 20 days disrupted meiotic initiation and completion in sheep oogonia and induced transcriptomic modifications of exposed explants. After exposure to the lowest concentrations of BPA (3 ×10-7 M), only 2 probes were significantly up-regulated corresponding to NR2F1 and TMEM167A transcripts. In contrast, after exposure to 3 × 10-5 M BPA, 446 probes were deregulated, 225 were down- and 221 were up-regulated following microarray analysis. Gene Ontology (GO) annotations of differentially expressed genes revealed that pathways mainly affected were involved in cell-cycle phase transition, meiosis and spindle assembly. Differences in key gene expression within each pathway were validated by qRT-PCR. This study provides a novel model for direct examination of the molecular pathways of environmental toxicants on early female gametogenesis and novel insights into the mechanisms by which BPA affects meiosis I. BPA exposure could thereby disrupt ovarian reserve formation by inhibiting meiotic progression of oocytes I and consequently by increasing atresia of primordial follicles containing defective oocytes.
Published: 2022

2. Pratiquer une recherche éthique et engagée, est-ce possible ?

Author: Aubin-Houzelstein, Genevieve, Cognie, Juliette, Deiss, Véronique, Favreau-Peigné, Angélique, Fillon, Valérie, Leterrier, Christine, Lévy, Frédéric, Merlot, Elodie, Nozières-Petit, Marie-Odile, Richard, Freddie-Jeanne, Collège de Direction (CODIR), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Physiologie de la reproduction et des comportements [Nouzilly] (PRC), Institut Français du Cheval et de l'Equitation [Saumur] (IFCE)-Université de Tours (UT)-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Physiologie, Environnement et Génétique pour l'Animal et les Systèmes d'Elevage [Rennes] (PEGASE), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut Agro Rennes Angers, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Systèmes d'élevage méditerranéens et tropicaux (UMR SELMET), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut Agro Montpellier, Territoires (Territoires), and AgroParisTech-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Clermont Auvergne (UCA)
Subjects: [SDV]Life Sciences [q-bio]
Abstract: International audience
Published: 2023

3. Whole-exome sequencing in patients with maturation arrest: a potential additional diagnostic tool for prevention of recurrent negative testicular sperm extraction outcomes

Author: F Ghieh, A L Barbotin, N Swierkowski-Blanchard, C Leroy, J Fortemps, C Gerault, C Hue, H Mambu Mambueni, S Jaillard, M Albert, M Bailly, V Izard, D Molina-Gomes, F Marcelli, J Prasivoravong, V Serazin, M N Dieudonne, M Delcroix, H J Garchon, A Louboutin, B Mandon-Pepin, S Ferlicot, F Vialard, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital Jeanne de Flandre [Lille], CHI Poissy-Saint-Germain, Infection et inflammation (2I), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UR), CHU Pontchaillou [Rennes], EHESP-Irset (EHESP-Irset), École des Hautes Études en Santé Publique [EHESP] (EHESP), Institut National de la Santé et de la Recherche Médicale (INSERM), Service de gynécologie et obstétrique [CHI Poissy-Saint Germain], AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Université Paris-Saclay, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and The study was funded by the Fondation Maladies Rares (Paris, France), Merck (Kenilworth, NJ, USA), IRSF (Montigny le Bretonneux, France) and Agence de la Biomédecine (Saint Denis, France). There are no competing interests.
Subjects: Male, Comparative Genomic Hybridization, Sperm Retrieval, testicular sperm extraction, Rehabilitation, DNA Helicases, Nuclear Proteins, Obstetrics and Gynecology, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Spermatozoa, Cohort Studies, DNA-Binding Proteins, spermatogenic arrest, consanguinity, Reproductive Medicine, Testis, Exome Sequencing, Trans-Activators, meiosis, non-obstructive azoospermia, Humans, whole-exome sequencing, RNA Helicases, Azoospermia, Retrospective Studies
Abstract: STUDY QUESTION Could whole-exome sequencing (WES) be useful in clinical practice for men with maturation arrest (MA) after a first testicular sperm extraction (TESE)? SUMMARY ANSWER WES in combination with TESE yields substantial additional information and may potentially be added as a test to predict a negative outcome of a recurrent TESE in patients with MA. WHAT IS KNOWN ALREADY At present, the only definitive contraindications for TESE in men with non-obstructive azoospermia (NOA) are a 46,XX karyotype and microdeletions in the azoospermia factor a (AZFa) and/or AZFb regions. After a first negative TESE with MA, no test currently exists to predict a negative outcome of a recurrent TESE. STUDY DESIGN, SIZE, DURATION In a cohort study, we retrospectively included 26 patients with idiopathic NOA caused by complete MA diagnosed after a first TESE. PARTICIPANTS/MATERIALS, SETTING, METHODS Twenty-six men with MA at the spermatocyte stage in all seminiferous tubules, according to a histopathological analysis performed independently by two expert histologists, and a normal karyotype (i.e. no AZF gene microdeletions on the Y chromosome) were included. Single-nucleotide polymorphism comparative genomic hybridization array and WES were carried out. The results were validated with Sanger sequencing. For all the variants thought to influence spermatogenesis, we used immunohistochemical techniques to analyse the level of the altered protein. MAIN RESULTS AND THE ROLE OF CHANCE Deleterious homozygous variants were identified in all seven consanguineous patients and in three of the 19 non-consanguineous patients. Compound heterozygous variants were identified in another 5 of the 19 non-consanguineous patients. No recurrent variants were identified. We found new variants in genes known to be involved in azoospermia or MA [including testis expressed 11 (TEX11), meiotic double-stranded break formation protein 1 (MEI1), proteasome 26s subunit, ATPase 3 interacting protein (PSMC3IP), synaptonemal complex central element protein 1 (SYCE1) and Fanconi anaemia complementation group M (FANCM) and variants in genes not previously linked to human MA (including CCCTC-binding factor like (CTCFL), Mov10 like RISC complex RNA helicase 1 (MOV10L1), chromosome 11 open reading frame 80 (C11ORF80) and exonuclease 1 (EXO1)]. LARGE SCALE DATA Data available on request LIMITATIONS, REASONS FOR CAUTION More data are required before WES screening can be used to avoid recurrent TESE, although screening should be recommended for men with a consanguineous family background. WES is still a complex technology and can generate incidental findings. WIDER IMPLICATIONS OF THE FINDINGS Our results confirmed the genetic aetiology of MA in most patients: the proportion of individuals with at least one pathologic variant was 50% in the overall study population and 100% in the consanguineous patients. With the exception of MEI1 (compound heterozygous variants of which were identified in two cases), each variant corresponded to a specific gene—confirming the high degree of genetic heterogeneity in men with MA. Our results suggest that WES screening could help to avoid recurrent, futile TESE in men with MA in general and in consanguineous individuals in particular, but these results need to be confirmed in future studies before clinical implementation. STUDY FUNDING/COMPETING INTEREST(S) The study was funded by the Fondation Maladies Rares (Paris, France), Merck (Kenilworth, NJ, USA), IRSF (Montigny le Bretonneux, France) and Agence de la Biomédecine (Saint Denis, France). There are no competing interests. TRIAL REGISTRATION NUMBER N/A.
Published: 2022

4. Ovarian tissue cryopreservation can be combined simultaneously with oocyte retrieval after controlled ovarian hyperstimulation

Author: Vincent Puy, Margot Dupeux, Anne Mayeur, Michael Grynberg, Alexandra Benoit, Marion Bendayan, Fayçal Zhegari, Laetitia Hesters, Vanessa Gallot, Sophie Prevot, Nelly Frydman, Charlotte Sonigo, AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Stabilité génétique, cellules souches et radiations (SGCSR (U_1274 / UMR_E_008)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Université Paris Cité (UPCité), Hôpital Jean Verdier [AP-HP], AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), CHI Poissy-Saint-Germain, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Physiologie et physiopathologie endocriniennes (PHYSENDO), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay
Subjects: Oocyte, Reproductive Medicine, Oncology, Controlled ovarian hyperstimulation, Rehabilitation, In vitro maturation, Obstetrics and Gynecology, Ovarian tissue cryopreservation, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Fertility preservation, Cancer
Abstract: STUDY QUESTION Can ovarian tissue cryopreservation (OTC) be performed after controlled ovarian hyperstimulation (COH)? SUMMARY ANSWER Unilateral oophorectomy after transvaginal oocyte retrieval is feasible on stimulated ovaries during one surgical step. WHAT IS KNOWN ALREADY In the fertility preservation (FP) field, the timeframe between patient referral and start of curative treatment is limited. Combining oocyte pick-up with ovarian tissue (OT) extraction has been reported to improve FP but COH applied before OT extraction is not currently recommended. STUDY DESIGN, SIZE, DURATION This retrospective cohort-controlled study involved 58 patients who underwent oocyte cryopreservation immediately followed by OTC between September 2009 and November 2021. The exclusion criteria were a delay between oocyte retrieval and OTC of >24 h (n = 5) and IVM of oocytes obtained ex vivo in the ovarian cortex (n = 2). This FP strategy was performed either after COH (stimulated group, n = 18) or after IVM (unstimulated group, n = 33). PARTICIPANTS/MATERIALS, SETTING, METHODS Oocyte retrieval followed by OT extraction on the same day was performed either without previous stimulation or after COH. Adverse effects of surgery and ovarian stimulation, mature oocyte yield and pathology findings of fresh OT were retrospectively analysed. Thawed OTs were analysed prospectively, for vascularization and apoptosis using immunohistochemistry, when patient consent was obtained. MAIN RESULTS AND THE ROLE OF CHANCE No surgical complication occurred after OTC surgery in either group. In particular, no severe bleeding was associated with COH. The number of mature oocytes obtained increased after COH (median = 8.5 (25% = 5.3–75% = 12.0)) compared to the unstimulated group (2.0 (1.0–5.3), P LIMITATIONS, REASONS FOR CAUTION The study reports FP from a small number of women following OTC. Follicle density and other pathology findings are an estimate only. WIDER IMPLICATIONS OF THE FINDINGS Unilateral oophorectomy can be successfully performed after COH with limited bleeding risk and an absence of impact on thawed OT. This approach could be proposed to post pubertal patients when the number of mature oocytes expected is low or when the risk of residual pathology is high. The reduction of surgical steps for cancer patients also has positive implications for introducing this approach into clinical practice. STUDY FUNDING/COMPETING INTEREST(S) This work was made possible through the support of the reproductive department of Antoine-Béclère Hospital and of the pathological department of Bicêtre Hospital (Assistance Publique Hôpitaux de Paris, France). The authors have no conflict of interest to disclose in this study. TRIAL REGISTRATION NUMBER N/A.
Published: 2023

5. Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

Author: Cécile Courdier, John Boudjarane, Valérie Malan, Christine Muti, Brian Sperelakis‐Beedham, Sylvie Odent, Sylvie Jaillard, Chloé Quelin, Cédric Le Caignec, Olivier Patat, Charlotte Dubucs, Sophie Julia, Caroline Schluth‐Bolard, Carole Goumy, Sylvia Redon, Jean‐Baptiste Gaillard, Minh Tuan Huynh, Céline Dupont, Anne‐Claude Tabet, Guillaume Cogan, François Vialard, Rodolphe Dard, Guillaume Jedraszak, Florence Jobic, Mathilde Lefebvre, Geneviève Quenum, Saori Inai, Mélanie Rama, Fanny Sauvestre, Frédéric Coatleven, Julie Thomas, Caroline Rooryck, Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Hôpital de la Timone [CHU - APHM] (TIMONE), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier de Versailles André Mignot (CHV), Service de génétique clinique [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Service Génétique Médicale [CHU Toulouse], Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Cytogénétique Constitutionnelle [Hospices civils de Lyon], Hospices Civils de Lyon (HCL), Laboratoire de Diagnostic Génétique [CHU Strasbourg], Université de Strasbourg (UNISTRA)-CHU Strasbourg, Service de Cytogénétique Médicale [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Unité de Génétique Chromosomique [Montpellier], Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée [Montpellier], Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre hospitalier universitaire de Nantes (CHU Nantes), AP-HP Hôpital universitaire Robert-Debré [Paris], CHI Poissy-Saint-Germain, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), CHU Amiens-Picardie, HEMATIM - Hématopoïèse et immunologie - UR UPJV 4666 (HEMATIM), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de génétique médicale et oncogénétique [CHU Amiens Picardie], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Libourne, Service de Génétique Médicale [Lille], Institut de génétique médicale-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de pathologie [Bordeaux], Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Centre Hospitalier Universitaire de Bordeaux (CHU de Bordeaux), Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), and None
Subjects: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Obstetrics and Gynecology, Genetics (clinical), [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; Objective: We aimed to gather fetal cases carrying a 7q11.23 copy number variation (CNV) and collect precise clinical data to broaden knowledge of antenatal features in these syndromes.Methods: We retrospectively recruited unrelated cases with 7q11.23 deletion, known as Williams-Beuren syndrome (WBS), or 7q11.23 duplication who had prenatal ultrasound findings. We collected laboratory and clinical data, fetal ultrasound, cardiac ultrasound and fetal autopsy reports from 18 prenatal diagnostic centers throughout France.Results: 40 fetuses with WBS were collected and the most common features were intra-uterine growth retardation (IUGR) (70.0%, 28/40), cardiovascular defects (30.0%, 12/40), polyhydramnios (17.5%, 7/40) and protruding tongue (15.0%, 6/40). Fetal autopsy reports were available for 11 cases and were compared with ultrasound prenatal features. Four cases of fetuses with 7q11.23 microduplication were collected and prenatal ultrasound signs were variable and often isolated.Conclusion: This work strengthens the fact that 7q11.23 CNVs are associated with a broad spectrum of antenatal presentations. IUGR and cardiovascular defects were the most frequent ultrasound signs. By reporting the biggest series of antenatal WBS, we aim to better delineate distinctive signs in fetuses with 7q11.23 CNVs.
Published: 2023

6. The epigenome of male germ cells and the programming of phenotypes in cattle

Author: Hélène Kiefer, Eli Sellem, Amélie Bonnet-Garnier, Maëlle Pannetier, Valentin Costes, Laurent Schibler, Hélène Jammes, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), and Allice
Subjects: 0303 health sciences, DNA methylation, epigenetics, male germ cells, 0402 animal and dairy science, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, embryo development, 04 agricultural and veterinary sciences, 040201 dairy & animal science, Feature Articles, 03 medical and health sciences, Food Animals, cattle, small noncoding RNAs, AcademicSubjects/SCI00960, Animal Science and Zoology, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology
Abstract: International audience
Published: 2021

7. Female age and parity in horses: how and why does it matter?

Author: Morgane Robles, E. Palmer, E. Derisoud, Pascale Chavatte-Palmer, Juliette Auclair-Ronzaud, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Institut Français du Cheval et de L'équitation (IFCE), Académie d'Agriculture de France, and IFCE CS_2018_23
Subjects: puberty, endocrine system, placenta, 040301 veterinary sciences, animal diseases, embryo, Physiology, lactation, Reproductive technology, follicle, reproduction, 0403 veterinary science, Endocrinology, Pregnancy, mare, biology.animal, Genetics, Animals, Birth Weight, Horses, oocyte, Molecular Biology, fertility, uterus, biology, 0402 animal and dairy science, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Embryo, 04 agricultural and veterinary sciences, 040201 dairy & animal science, Breed, Parity, Reproductive Medicine, Foal, Pregnancy, Animal, Gestation, Female, ovary, Animal Science and Zoology, Folliculogenesis, Parity (mathematics), Embryo quality, Maternal Age, foal, Developmental Biology, Biotechnology
Abstract: International audience; Although puberty can occur as early as 14-15 months of age, depending on breed and use, the reproductive career of mares may continue to advanced ages. Once mares are used as broodmares, they will usually produce foals once a year until they become unfertile, and their productivity can be enhanced and/or prolonged through embryo technologies. There is a general consensus that old mares are less fertile, but maternal age and parity are confounding factors because nulliparous mares are usually younger and older mares are multiparous in most studies. This review shows that age critically affects cyclicity, folliculogenesis, oocyte and embryo quality as well as presence of oviductal masses and uterine tract function. Maternal parity has a nonlinear effect. Primiparity has a major influence on placental and foal development, with smaller foals at the first gestation that remain smaller postnatally. After the first gestation, endometrial quality and uterine clearance capacities decline progressively with increasing parity and age, whilst placental and foal birthweight and milk production increase. These combined effects should be carefully balanced when breeding mares, in particular when choosing and caring for recipients and their foals.
Published: 2021

8. A Web-Based Global Educational Model for Training in Semen Analysis during the COVID-19 Pandemic

Author: Simryn Covarrubias, Mohamed Arafa, Ralf Henkel, Renata Finelli, Kelly Athayde Wirka, Paraskevi Vogiatzi, Florence Boitrelle, Kristian Leisegang, Israel Maldonado Rosas, Sara Darbandi, Sajal Gupta, Ramadan A Saleh, Annapoorani Chockalingam, Raha Sadeghi, Sarah Madani, Rupin Shah, Christina Anagnostopoulou, Hussein Kandil, Andrea Belo, Ashok Agarwal, Hassan N. Sallam, Damayanthi Durairajanayagam, Mahsa Darbandi, Camila Pompeu, Neha Singh, Rakesh Sharma, Cleveland Clinic, Universiti Teknologi MARA [Shah Alam] (UiTM ), University of the Western Cape, NOVA IVF, Hope Generation Foundation, University of Sciences and Technology Houari Boumediene [Alger] (USTHB), University of San Francisco (USF), Instituto Ideia Fèrtil, CHI Poissy-Saint-Germain, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Sohag University, Alexandria University [Alexandrie], and Imperial College London
Subjects: Aging, Urology, media_common.quotation_subject, medicine.medical_treatment, Best practice, education, 030232 urology & nephrology, andrology, Certification, Troubleshooting, semen analysis, Education, 03 medical and health sciences, 0302 clinical medicine, Education, distance, medicine, Web application, Pharmacology (medical), Quality (business), distance, media_common, Multiple choice, Medical education, 030219 obstetrics & reproductive medicine, Assisted reproductive technology, business.industry, 4. Education, Health Policy, Public Health, Environmental and Occupational Health, Male Reproductive Health and Infertility, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Diseases of the genitourinary system. Urology, 3. Good health, Test (assessment), Psychiatry and Mental health, Reproductive Medicine, distance education, surveys and questionnaires, Medicine, Original Article, RC870-923, business
Abstract: International audience; Purpose: In response to the COVID-19 pandemic, the American Center for Reproductive Medicine (ACRM) transitioned its annual training in assisted reproductive technology (ART) from a hands-on, laboratory-based training course to a fully online training endorsed by the American College of Embryology. Here we describe our experience and assess the quality of an online training format based on participant outcomes for the first three modules of a planned series of online ART training.Materials and methods: These modules included manual semen analysis, sperm morphology and ancillary semen tests (testing for leukocytospermia, sperm vitality, and anti-sperm antibody screening). The virtual format consisted of lecture presentations featuring laboratory protocols with corresponding video demonstrations of routine techniques and best practices. Practical scenarios, troubleshooting, and clinical interpretation of laboratory results were also discussed. At the end of each module, an optional multiple choice question test was held as a prerequisite to obtain certification on the topics presented. Course quality was assessed using participant responses collected via online surveys.Results: The digital delivery methods used were found to have largely or completely met the participants' expectations for all questions (>85%). The majority (>87%) of the participants either strongly agreed or agreed that the course content was well-structured with appropriate depth, and that their overall expectations of the course had been met.Conclusions: This training format appears to be a realistic teaching option to freely share highly specialized expertise and technical knowledge with participants from anywhere in the world with varying levels of competency or experience.
Published: 2021

9. Editorial Commentary on Draft of World Health Organization Sixth Edition Laboratory Manual for the Examination and Processing of Human Semen

Author: Ralf Henkel, Rupin Shah, Hussein Kandil, Armand Zini, Ramadan A Saleh, Paraskevi Vogiatzi, Florence Boitrelle, Mohamed Arafa, Ashok Agarwal, Fakih IVF Fertility Center, Cleveland Clinic, Sohag University, CHI Poissy-Saint-Germain, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Cairo University, Fertility Diagnostics Laboratory, Imperial College London, University of the Western Cape, McGill University = Université McGill [Montréal, Canada], and Lilavati Hospital and Research Centre
Subjects: Infertility, Aging, medicine.medical_specialty, Percentile, Urology, media_common.quotation_subject, Concordance, Population, 030232 urology & nephrology, Fertility, Semen analysis, Male infertility, 03 medical and health sciences, 0302 clinical medicine, medicine, Pharmacology (medical), education, ComputingMilieux_MISCELLANEOUS, Normality, media_common, education.field_of_study, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, business.industry, Health Policy, Public Health, Environmental and Occupational Health, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Male Reproductive Health and Infertility, medicine.disease, Diseases of the genitourinary system. Urology, 3. Good health, Psychiatry and Mental health, Editorial, Reproductive Medicine, Family medicine, Medicine, RC870-923, business
Abstract: Semen examination is the cornerstone of the evaluation of male fertility potential. Despite its apparent simplicity, it is a complex series of assessments with highly variable results that are subject to interpretation. The semen analysis is used to gauge reproductive potential and guide the clinician in management of the infertile couple. Over the past 40 years, the World Health Organization (WHO) Infertility Task Force has attempted to standardize the methodology of semen examination so as to bring uniformity and relevance to the test. The 1st edition of the “Laboratory Manual for the Examination and Processing of Human Semen” was published in 1980. Since then, four more editions of the WHO manual have been published, each attempting to reflect global male population demographics, to address limitations from previous versions, and to incorporate technological and scientific evolution in the field of reproduction. Currently, the 5th edition of the WHO manual, published in 2010, is implemented worldwide, and is considered one of the most used, yet contested documents in the field of male infertility [1]. In March 2021, the WHO released a preliminary draft of the 6th edition of its manual for public review and suggestions (https://www.who.int/publications/i/item/9789241547789). Essentially, the new manual comprises three parts: semen examination; sperm preparation and cryopreservation; and quality control and assurance. The procedures for semen examination include basic (routine) examinations, extended examinations (which may be used by laboratories or clinicians in certain situations), and advanced tests (which are not currently recommended for routine use and are primarily for research purposes). The 6th edition has presented the basic examination in a step-by-step and temporal manner, so that it can be reproduced precisely in any laboratory with the required equipment and expertise. The sections on extended and advanced examinations have been completely revamped in concordance with current clinical practice, with many older tests being abandoned and new tests being adopted. The purpose of this mini review and commentary is to familiarize fertility specialists with the principal changes proposed in the anticipated 6th edition of the WHO manual for human semen analysis. The advantages, limitations and clinical implications of these changes are discussed. 1. Use of decision limits to identify abnormal ejaculates The most important change proposed in the 6th edition is the adoption of decision limits to differentiate normal from abnormal ejaculates. The editors of the 6th edition acknowledge that the reference ranges described in the 5th edition should be abandoned as they are of limited value in differentiating fertile from infertile men. The 5th edition WHO manual utilized a population of 1,800 fertile men to obtain the reference distributions for semen parameters [1]. The lower 5th percentile was used to define the reference values for normal semen parameters. While the 5th percentile is commonly utilized as a statistical approach to determine cut-off norms in medical tests, this resulted in much controversy when applied to male fertility [2]. It has been argued that the 5th percentile is not applicable to assign normality in this case and proves unable to discriminate between fertile and infertile patients [3]. Several studies reported a shift of fertility status from abnormal to normal in 15% to 44% of patients by just using the 5th edition norms instead of the 4th edition [4,5,6,7]. It was therefore proposed that WHO reference ranges did not adequately reflect fertility dynamics of the male partner, with several investigators and clinicians believing that normal values were above the lower 5th percentile. With these limitations in mind, the editors of the 6th edition suggested using different reference limits because the previous reference ranges fail to differentiate fertile from infertile men [8]. Decision limits were introduced by Guzick et al [9], who proposed a two-level reference range narrative by defining an intermediate group of values. According to their data the sub-fertile population demonstrated a sperm concentration below 13.5×106/mL, sperm motility less than 32% and typical forms below 9%. Yet, the normal fertile subgroup had a sperm concentration greater than 48×106/mL, sperm motility over 63%, and normal morphology above 12%. Values between these two levels were categorized as intermediate fertility [9]. The 5th edition has been criticized for neglecting the female factor as an important confounder [3] and for both over- and under-representation of various regions of the world [4]. The editors of the 6th edition have acknowledged these limitations (Appendix 8.1 of the manual) and stipulated that semen examination cannot strictly differentiate between pathological and normal samples. Moreover, they recognize that using the lower 5th percentile is not the correct approach to identify normal or abnormal semen samples, and that semen analysis alone cannot predict fertility as this depends on multiple variables, particularly, female factors. Hence, the “normal” reference values of the 5th edition have been replaced by “decision limits” in the 6th edition. These are classified as “normal”, “borderline”, and “pathological”. A “normal” concentration is ≥20×106/mL, “borderline” lies between 10 to 20×106/mL, and “pathological” is
Published: 2021

10. Identification of the Inner Cell Mass and the Trophectoderm Responses after an In Vitro Exposure to Glucose and Insulin during the Preimplantation Period in the Rabbit Embryo

Author: Romina Via y Rada, Nathalie Daniel, Catherine Archilla, Anne Frambourg, Luc Jouneau, Yan Jaszczyszyn, Gilles Charpigny, Véronique Duranthon, Sophie Calderari, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut de Biologie Intégrative de la Cellule (I2BC), and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)
Subjects: diabetes, preimplantation embryo, [SDV]Life Sciences [q-bio], DOHaD, rabbit, General Medicine
Abstract: The prevalence of metabolic diseases is increasing, leading to more women entering pregnancy with alterations in the glucose-insulin axis. The aim of this work was to investigate the effect of a hyperglycemic and/or hyperinsulinemic environment on the development of the preimplantation embryo. In rabbit embryos developed in vitro in the presence of high insulin (HI), high glucose (HG), or both (HGI), we determined the transcriptomes of the inner cell mass (ICM) and the trophectoderm (TE). HI induced 10 differentially expressed genes (DEG) in ICM and 1 in TE. HG ICM exhibited 41 DEGs involved in oxidative phosphorylation (OXPHOS) and cell number regulation. In HG ICM, proliferation was decreased (p < 0.01) and apoptosis increased (p < 0.001). HG TE displayed 132 DEG linked to mTOR signaling and regulation of cell number. In HG TE, proliferation was increased (p < 0.001) and apoptosis decreased (p < 0.001). HGI ICM presented 39 DEG involved in OXPHOS and no differences in proliferation and apoptosis. HGI TE showed 16 DEG linked to OXPHOS and cell number regulation and exhibited increased proliferation (p < 0.001). Exposure to HG and HGI during preimplantation development results in common and specific ICM and TE responses that could compromise the development of the future individual and placenta.
Published: 2022
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11. European countries have different rates of sperm cryopreservation before vasectomy and at the time of reversal

Author: Degraeve, Amandine, Roumeguere, Thierry, Tilmans, Gilles, Marotta, Marie Laura, Huyghe, Éric, Fournier, Georges, Faix, Antoine, Spinoit, Anne Françoise, Decaestecker, Karel P.J., Herve, François, Boitrelle, Florence, Lahdensuo, Kanerva, van Damme, Julien, Université Catholique de Louvain = Catholic University of Louvain (UCL), Université libre de Bruxelles (ULB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Développement Embryonnaire, Fertilité et Environnement (DEFE), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHRU de Brest, service de chirurgie urologique et de la transplantation reinale (CHU - BREST - Urologie), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Clinique Beau Soleil [Montpellier], Ghent University Hospital, Cliniques Universitaires Saint-Luc [Bruxelles], Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre d’Études et de Conservation des Œufs et du Sperme [CHU Jean Verdier] (CECOS), Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], TKK Helsinki University of Technology (TKK), Helsinki University Hospital [Finland] (HUS), and HAL UVSQ, Équipe
Subjects: Male, male contraception, vasectomy, Urology, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], Vasovasostomy, Contraceptive Agents, Male, definitive sterilization, cryopreservation, Spermatozoa, [SDV] Life Sciences [q-bio], Endocrinology, vasectomy reversal, Reproductive Medicine, Semen, Humans
Abstract: International audience; Effective male contraceptive options are condoms and vasectomy. Vasectomy should not be considered a reversible method of contraception even if vasovasostomy can be offered to men to restore fertility after vasectomy. Therefore, there is a real questioning among urologists concerning cryopreservation before vasectomy. We carried out an international survey concerning the practice of cryopreservation before vasectomy and during vasovasostomy. Material and methods: An online anonymous survey was submitted from January to June 2021 to six European urological societies. The 31-items questionnaire included questions about demography, habits of cryopreservation before vasectomy or during vasectomy reversal, and in case of urogenital cancers. Results: 228 urologists from six urological societies in five different countries (Belgium, Netherlands, Luxembourg, France, Finland) answered the questionnaire. French urologists were more in favor of cryopreservation before vasectomy than other European urologists (p
Published: 2022

12. Glucocorticoid-Induced Hyperinsulinism in a Preterm Neonate with Inherited ABCC8 Variant

Author: Emmanuelle Motte-Signoret, Cécile Saint-Martin, Christine Bellané-Chantelot, Bernard Portha, Pascal Boileau, CHI Poissy-Saint-Germain, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Service de Génétique médicale [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Physiologie et physiopathologie endocriniennes (PHYSENDO), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, and BREED, INRAE
Subjects: Endocrinology, Diabetes and Metabolism, diabetes mellitus, [SDV.BDD] Life Sciences [q-bio]/Development Biology, K+ channels, Molecular Biology, Biochemistry, neonatology, [SDV.BDD]Life Sciences [q-bio]/Development Biology
Abstract: International audience; Glucose homeostasis is a real challenge for extremely preterm infants (EPIs) who have both limited substrate availability and immature glucose metabolism regulation. In the first days of life, EPIs frequently develop transient glucose intolerance, which has a complex pathophysiology that associates unregulated gluconeogenesis, immature insulin secretion, and peripheral insulin resistance. In this population, glucocorticoid therapy is frequently administrated to prevent severe bronchopulmonary dysplasia. During this treatment, glucose intolerance classically increases and may lead to hyperglycemia. We report a case of neonatal hypoglycemia that was concomitant to a glucocorticoids administration, and that led to a congenital hyperinsulinism diagnosis in an EPI with a heterozygous ABCC8 variant. The variant was inherited from his mother, who had developed monogenic onset diabetes of the youth (MODY) at the age of 23. ABCC8 encodes a beta-cell potassium channel unit and causes congenital hyperinsulinism or MODY depending on the mutation location. Moreover, some mutations have been observed in the same patient to cause both hyperinsulinism in infancy and MODY in adulthood. In our case, the baby showed repeated and severe hypoglycemias, which were undoubtedly time-associated with the betamethasone intravenous administration. This hyperinsulinism was transient, and the infant has not yet developed diabetes at three years of age. We take the opportunity presented by this unusual clinical presentation to provide a review of the literature, suggesting new insights regarding the pathophysiology of the beta-pancreatic cells’ insulin secretion: glucocorticoids may potentiate basal insulin secretion in patients with ABCC8 mutation.
Published: 2022

13. Major transcriptomic, epigenetic and metabolic changes underlie the pluripotency continuum in rabbit preimplantation embryos

Author: Wilhelm Bouchereau, Luc Jouneau, Catherine Archilla, Irène Aksoy, Anais Moulin, Nathalie Daniel, Nathalie Peynot, Sophie Calderari, Thierry Joly, Murielle Godet, Yan Jaszczyszyn, Marine Pratlong, Dany Severac, Pierre Savatier, Véronique Duranthon, Marielle Afanassieff, Nathalie Beaujean, Institut cellule souche et cerveau / Stem Cell and Brain Research Institute (SBRI), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Interactions Cellules Environnement - UR (ICE), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS), Isara, Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Institut de Génomique Fonctionnelle - Montpellier GenomiX (IGF MGX), Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-BioCampus (BCM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Unité sous contrat plate-forme biotechnologique de cellules souches plate-forme PrimaStem, Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut cellule souche et cerveau / Stem Cell and Brain Research Institute (U1208 Inserm - UCBL1 / SBRI - USC 1361 INRAE), Institut méditerranéen d'océanologie (MIO), and Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut national des sciences de l'Univers (INSU - CNRS)-Université de Toulon (UTLN)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Pluripotent Stem Cells, Embryo transcriptome, Pluripotency continuum, Epigenesis, Genetic, Single-cell RNAseq, Mice, Blastocyst, Rabbit preimplantation embryo, Animals, Rabbits, Naive pluripotency, Transcriptome, Molecular Biology, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Germ Layers, Developmental Biology
Abstract: Despite the growing interest in the rabbit model for developmental and stem cell biology, the characterization of embryos at the molecular level is still poorly documented. We conducted a transcriptome analysis of rabbit preimplantation embryos from E2.7 (morula stage) to E6.6 (early primitive streak stage) using bulk and single-cell RNA-sequencing. In parallel, we studied oxidative phosphorylation and glycolysis, and analysed active and repressive epigenetic modifications during blastocyst formation and expansion. We generated a transcriptomic, epigenetic and metabolic map of the pluripotency continuum in rabbit preimplantation embryos, and identified novel markers of naive pluripotency that might be instrumental for deriving naive pluripotent stem cell lines. Although the rabbit is evolutionarily closer to mice than to primates, we found that the transcriptome of rabbit epiblast cells shares common features with those of humans and non-human primates.
Published: 2022

14. NURSING IN THE PERICONCEPTIONAL PERIOD ALTERS PLACENTAL GENE EXPRESSION AND SUBSEQUENT FOAL GROWTH

Author: Derisoud, Emilie, Auclair-Ronzaud, Juliette, Valais, Orianne, Jouneau, Luc, Durand, Alexia, Dahirel, Michèle, Prézelin, Audrey, Jaszczyszyn, Yan, Wimel, Laurence, Chavatte-Palmer, Pascale, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut Français du Cheval et de l'Equitation [Saumur] (IFCE), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), and DOHAD society
Subjects: [SDV.BA.MVSA]Life Sciences [q-bio]/Animal biology/Veterinary medicine and animal Health, mare, DOHaD, lactation, horse
Abstract: International audience; To be profitable, equine breeders aim to produce a foal/mare/year, meaning that mares are bred while still nursing their previous foal. Most studies show that fertility as embryo/fetal mortality is increased in nursing mares. Long-term effects, however, have not been investigated. This project aimed to analyze the effect of nursing on placenta and foal growth. Methods: Multiparous Saddlebred mares aged 10-16 years were bred with the semen of one unique stallion on the 2 nd heat after foaling (Nursing, N, n=6) or after having been left barren for 1 year (Barren, B, n=14). They were then managed as one herd in pasture and stalled individually in the same barn from around 6 th month of gestation until foaling (11 months gestation). Placentas were recovered at foaling, measured and weighed. Stereology was performed using MercartorPro software on HES-stained paraffin embedded samples. Paired-end RNA-sequencing was performed on frozen placenta (Illumina, NextSeq500). Differential expression was analyzed (DESeq2) using a false discovery rate (FDR)
Published: 2022

15. DHX37 and 46, XY DSD : A new Ribosomopathy?

Author: Kenneth McElreavey, Eric Pailhoux, Anu Bashamboo, Génétique du Développement humain - Human developmental genetics, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), A.B. and K.M. are funded by the Agence Nationale de la Recherche (ANR), ANR-10-LABX-73 REVIVE, ANR-17-CE14-0038-01. E.P., A.B., and K.M. are funded by ANR-19-CE14-0012-01., ANR-10-LABX-0073,REVIVE,Stem Cells in Regenerative Biology and Medicine(2010), ANR-17-CE14-0038,MGonDev,Etude des mécanismes du développement des gonades chez l'homme(2017), and ANR-19-CE14-0012,RNA-SEX,Fonction de l'ARN hélicase dans la détermination du sexe chez les vertébrés et les troubles du développement du sexe chez l'homme (DSD)(2019)
Subjects: Gonadal Dysgenesis, 46,XY, Embryology, Heterozygote, DHX37, RNA helicase, Endocrinology, Diabetes and Metabolism, Mutation, Missense, Ribosomopathy, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Disorders/differences of sex development, Ribosome biogenesis, Humans, RNA Helicases, Developmental Biology
Abstract: Recently, a series of recurrent missense variants in the RNA-helicase DHX37 have been reported associated with either 46,XY gonadal dysgenesis, 46,XY testicular regression syndrome (TRS), or anorchia. All affected children have non-syndromic forms of disorders/differences of sex development (DSD). These variants, which involve highly conserved amino acids within known functional domains of the protein, are predicted by in silico tools to have a deleterious effect on helicase function. DHX37 is required for ribosome biogenesis in eukaryotes, and how these variants cause DSD is unclear. The relationship between DHX37 and human congenital disorders is complex as compound heterozygous as well as de novo heterozygous missense variants in DHX37 are also associated with a complex congenital developmental syndrome (NEDBAVC, neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies; OMIM 618731), consisting of microcephaly, global developmental delay, seizures, facial dysmorphia, and kidney and cardiac anomalies. Here, we will give a brief overview of ribosome biogenesis and the role of DHX37 in this process. We will discuss variants in DHX37, their contribution to human disease in the general context of human ribosomopathies, and the possible disease mechanisms that may be involved.
Published: 2022

16. Dopaminergic and serotonergic changes in rabbit fetal brain upon repeated gestational exposure to diesel engine exhaust

Author: Karine Badonnel, Pascaline Bouillaud, Jacques Callebert, Henri Schroeder, Christine Baly, Benoit Olivier, Estefania Bernal-Meléndez, Pascale Chavatte-Palmer, Marie-Annick Persuy, Neurobiologie de l'olfaction (NBO), Institut National de la Recherche Agronomique (INRA), Composés Alimentaires : Biofonctionnalités et risques Neurotoxiques (CALBINOTOX), Université de Lorraine (UL), Service de biochimie et biologie moléculaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-IFR139, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), and ANR-13-CESA-0011,EPPAP,Effets de la Pollution Atmosphérique sur la fonction Placentaire et le développement Post-natal(2013)
Subjects: Male, 0301 basic medicine, Serotonin, Diesel exhaust, medicine.medical_specialty, Time Factors, Dopamine, Gestational exposure, Health, Toxicology and Mutagenesis, Hippocampus, 010501 environmental sciences, Biology, Toxicology, Serotonergic, Synaptic Transmission, 01 natural sciences, Norepinephrine, 03 medical and health sciences, Sex Factors, Pregnancy, Internal medicine, Monoaminergic, medicine, Animals, Vehicle Emissions, 0105 earth and related environmental sciences, Temporal cortex, Tyrosine hydroxylase, [SCCO.NEUR]Cognitive science/Neuroscience, [SDV.BA]Life Sciences [q-bio]/Animal biology, Dopaminergic, Neurotoxicity, Brain, Airborne pollution, General Medicine, Monoaminergic neuromodulation, Tryptophan hydroxylase, medicine.disease, 3. Good health, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, 030104 developmental biology, Endocrinology, Maternal Exposure, Prenatal Exposure Delayed Effects, Female, Rabbits, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition
Abstract: International audience; Limited studies in humans and in animal models have investigated the neurotoxic risks related to a gestational exposure to diesel exhaust particles (DEP) on the embryonic brain, especially those regarding monoaminergic systems linked to neurocognitive disorders. We previously showed that exposure to DEP alters monoaminergic neurotransmission in fetal olfactory bulbs and modifies tissue morphology along with behavioral consequences at birth in a rabbit model. Given the anatomical and functional connections between olfactory and central brain structures, we further characterized their impacts in brain regions associated with monoaminergic neurotransmission. At gestational day 28 (GD28), fetal rabbit brains were collected from dams exposed by nose-only to either a clean air or filtered DEP for 2 h/day, 5 days/week, from GD3 to GD27. HPLC dosage and histochemical analyses of the main monoaminergic systems, i.e., dopamine (DA), noradrenaline (NA), and serotonin (5-HT) and their metabolites were conducted in microdissected fetal brain regions. DEP exposure increased the level of DA and decreased the dopaminergic metabolites ratios in the prefrontal cortex (PFC), together with sex-specific alterations in the hippocampus (Hp). In addition, HVA level was increased in the temporal cortex (TCx). Serotonin and 5-HIAA levels were decreased in the fetal Hp. However, DEP exposure did not significantly modify NA levels, tyrosine hydroxylase, tryptophan hydroxylase or AChE enzymatic activity in fetal brain. Exposure to DEP during fetal life results in dopaminergic and serotonergic changes in critical brain regions that might lead to detrimental potential short-term neural disturbances as precursors of long-term neurocognitive consequences.
Published: 2021

17. Dynamics of cattle sperm sncRNAs during maturation, from testis to ejaculated sperm

Author: Hélène Kiefer, Andrea Rau, Eli Sellem, Sylvain Marthey, Chrystelle Le Danvic, Aurelie Bonnet, Laurent Schibler, Hélène Jammes, Luc Jouneau, Benoît Guyonnet, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Allice, Génétique Animale et Biologie Intégrative (GABI), AgroParisTech-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Mathématiques et Informatique Appliquées du Génome à l'Environnement [Jouy-En-Josas] (MaIAGE), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Transfrontalière BioEcoAgro - UMR 1158 (BioEcoAgro), Université d'Artois (UA)-Université de Liège-Université de Picardie Jules Verne (UPJV)-Université du Littoral Côte d'Opale (ULCO)-Université de Lille-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-JUNIA (JUNIA), Université catholique de Lille (UCL)-Université catholique de Lille (UCL), APIS-GENE (SeQuaMol), ANR-14-LAB3-0008,SeQuaMol,Qualité de la semence et fertilité chez les bovins: développement de nouveaux outils moléculaires de diagnostic(2014), École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université Paris-Saclay-AgroParisTech-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Transfrontalière BioEcoAgro (Transfrontalière BioEcoAgro), and Université d'Artois (UA)-Université de Liège-Université de Picardie Jules Verne (UPJV)-Université du Littoral Côte d'Opale (ULCO)-Université de Lille-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)
Subjects: Male, endocrine system, Piwi-interacting RNA, Semen, Biology, QH426-470, TRFs, RRFs, [SDV.BDLR.RS]Life Sciences [q-bio]/Reproductive Biology/Sexual reproduction, 03 medical and health sciences, 0302 clinical medicine, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Gene expression, Embryonic morphogenesis, Testis, medicine, Genetics, Animals, Testicular parenchyma sperm, Molecular Biology, [SDV.BDD.GAM]Life Sciences [q-bio]/Development Biology/Gametogenesis, reproductive and urinary physiology, 030304 developmental biology, Secretome, Epididymis, 0303 health sciences, 030219 obstetrics & reproductive medicine, urogenital system, Research, PiRNA, Embryogenesis, SncRNAs, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Bovine, Epididymis location, Sperm, Spermatozoa, Cell biology, Sperm epigenetics, medicine.anatomical_structure, RNA, Small Untranslated, Cattle, MiRNA, Spermatogenesis
Abstract: Background During epididymal transit, spermatozoa go through several functional maturation steps, resulting from interactions with epididymal secretomes specific to each region. In particular, the sperm membrane is under constant remodeling, with sequential attachment and shedding of various molecules provided by the epididymal lumen fluid and epididymosomes, which also deliver sncRNA cargo to sperm. As a result, the payload of sperm sncRNAs changes during the transit from the epididymis caput to the cauda. This work was designed to study the dynamics of cattle sperm sncRNAs from spermatogenesis to final maturation. Results Comprehensive catalogues of sperm sncRNAs were obtained from testicular parenchyma, epididymal caput, corpus and cauda, as well as ejaculated semen from three Holstein bulls. The primary cattle sncRNA sperm content is markedly remodeled as sperm mature along the epididymis. Expression of piRNAs, which are abundant in testis parenchyma, decreases dramatically at epididymis. Conversely, sperm progressively acquires miRNAs, rsRNAs, and tsRNAs along epididymis, with regional specificities. For instance, miRNAs and tsRNAs are enriched in epididymis cauda and ejaculated sperm, while rsRNA expression peaks at epididymis corpus. In addition, epididymis corpus contains mainly 20 nt long piRNAs, instead of 30 nt in all other locations. Beyond the bulk differences in abundance of sncRNAs classes, K-means clustering was performed to study their spatiotemporal expression profile, highlighting differences in specific sncRNAs and providing insights into their putative biological role at each maturation stage. For instance, Gene Ontology analyses using miRNA targets highlighted enriched processes such as cell cycle regulation, response to stress and ubiquitination processes in testicular parenchyma, protein metabolism in epididymal sperm, and embryonic morphogenesis in ejaculated sperm. Conclusions Our findings confirm that the sperm sncRNAome does not simply reflect a legacy of spermatogenesis. Instead, sperm sncRNA expression shows a remarkable level of plasticity resulting probably from the combination of multiple factors such as loss of the cytoplasmic droplet, interaction with epididymosomes, and more surprisingly, the putative in situ production and/or modification of sncRNAs by sperm. Given the suggested role of sncRNA in epigenetic trans-generational inheritance, our detailed spatiotemporal analysis may pave the way for a study of sperm sncRNAs role in embryo development.
Published: 2021

18. Mare aging as young as 10 years old alters gene expression and structure of term placenta without affecting foal growth

Author: Derisoud, E, Gastaldo, S, Valais, O, Jouneau, Luc, Cauter, Van, Durand, A, Deliège, B, Rousset, A, Dahirel, M, Prezelin, A, Jaszczyszyn, Y, Wimel, L, Lejeune, J, Serteyn, D, Chavatte-Palmer, Pascale, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre Européen du Cheval [Belgique], Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Institut Français du Cheval et de l'Equitation [Saumur] (IFCE), IFCE, and ICAR
Subjects: [SDV.BA.MVSA]Life Sciences [q-bio]/Animal biology/Veterinary medicine and animal Health, gestation, age, pregnancy, horse, equine
Abstract: International audience; Maternal aging, excluding extreme ages, is associated with increased foal weight/size and heavier/more voluminous placenta. Maternal parity is a confounding factor as it is often strongly correlated with maternal age. The aim of this study was to analyze the effect of mare age, while excluding a parity effect, on placental structure and gene expression and foal growth and health.Placentas from 10 young (6-year-old, YM) and 12 older (>10-year-old, OM) multiparous mares of similar parity were recovered, measured and weighted after foaling. Placental structure was analyzed by stereology on HES stained histological slides. Paired-end RNA-sequencing was performed on 6 placentas/group (Illumina, NextSeq500). Differential expression was analyzed (DESeq2) using a false discovery rate
Published: 2022

19. Les cellules souches germinales et leur épigénétique chez l'embryon de poulet

Author: Kress, Clémence, Pain, Bertrand, Jouneau, Luc, Institut cellule souche et cerveau / Stem Cell and Brain Research Institute (U1208 Inserm - UCBL1 / SBRI - USC 1361 INRAE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), and Kress, Clémence
Subjects: [SDV.BDD.GAM] Life Sciences [q-bio]/Development Biology/Gametogenesis, épigénétique, [SDV.BDD] Life Sciences [q-bio]/Development Biology, [SDV.BDD]Life Sciences [q-bio]/Development Biology, [SDV.BDD.GAM]Life Sciences [q-bio]/Development Biology/Gametogenesis, cellules souches germinales, embryon de poulet
Abstract: International audience
Published: 2022

20. Equine blastocyst size affects gene expression

Author: E Derisoud, L Jouneau, A Margat, C Gourtay, C Dubois, C Archilla, Y Jaszczyszyn, M Dahirel, N Daniel, N Peynot, L Briot, F De Geoffroy, L Wimel, V Duranthon, P Chavatte-Palmer, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut Français du Cheval et de l'Equitation [Saumur] (IFCE), La Jumenterie du Pin [IFCE], Institut Français du Cheval et de l'Equitation [Saumur] (IFCE)-Institut Français du Cheval et de l'Equitation, Institut de Biologie Intégrative de la Cellule (I2BC), and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)
Subjects: Equine, Equine blastocyst, embryonic structures, gene expression, [SDV.BDD]Life Sciences [q-bio]/Development Biology, reproductive and urinary physiology
Abstract: International audience; This study aimed to evaluate gene expression for embryos collected 8±1.5 days after ovulation, of different sizes. Non-lactating Saddlebred mares located on two experimental farms were inseminated with semen from one stallion per farm after hCG induction. Mares were examined for ovulation at 24 or 48 h after hCG, depending on the farm. Twenty-eight embryos (11 and 17, respectively) were collected 8 days after ovulation was confirmed, with each embryo from a different dam. Embryos were measured and bisected to obtain trophoblast (TE) or inner cell mass enriched trophoblast (TE-ICM). Paired end, non-oriented RNA sequencing was performed (Illumina, NextSeq500) on both samples of embryos of different diameters: Small (1,200µm, 1,719±488µm, n=8). For TE-ICM data, deconvolution (DeMixT) was used to discriminate gene expression in ICM vs TE. Differential expression was analyzed (DESeq2) with farm and embryo sex as cofactors (false discovery rate (FDR)
Published: 2022

21. A narrative review of functional outcomes following nerve-sparing surgery for deeply infiltrating endometriosis

Author: Sofiane Bendifallah, Beth Leopold, Thiers Soares, Sara Rahman, Jean Marc Ayoubi, Jordan S. Klebanoff, Gaby N. Moawad, Mount Sinai Medical Center, Icahn School of Medicine at Mount Sinai [New York] (MSSM), Gynécologie-obstétrique et médecine de la reproduction - Maternité [CHU Tenon], CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Foch [Suresnes], Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Universidade do Estado do Rio de Janeiro [Rio de Janeiro] (UERJ), and The George Washington University (GW)
Subjects: endometriosis, medicine.medical_specialty, Constipation, Endocrinology, Diabetes and Metabolism, Endometriosis, Disease, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, nerve-sparing surgery, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, medicine, Endometriosis surgery, Molecular Biology, urinary retention, 030219 obstetrics & reproductive medicine, Nerve-sparing surgery, Urinary retention, business.industry, General surgery, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, constipation, General Medicine, medicine.disease, 3. Good health, functional outcomes, Sexual dysfunction, 030220 oncology & carcinogenesis, Narrative review, medicine.symptom, business
Abstract: Endometriosis negatively impacts the lives of countless women around the world. When medical management fails to improve the quality of life for women with either previously confirmed or suspected endometriosis often a decision must be made whether or not to proceed with surgery. When deeply infiltrating disease is diagnosed either clinically or by imaging studies often medical management alone will not suffice without excisional surgery. Surgery for endometriosis, especially deeply infiltrating disease, is not without risks. Aside from common risks of surgery endometriosis may also involve pelvic nerves, which can be hard to recognize to the untrained eye. Identification of pelvic nerves commonly encountered during endometriosis surgery is paramount to avoid inadvertent injury to optimize function outcomes. Injury to pelvic nerves can lead to urinary retention, constipation, sexual dysfunction, and refractory pain. However, nerve-sparing surgery for endometriosis has been proven to mitigate these complications and enhance recovery following surgery. Here we review the benefits of nerve-sparing surgery for deeply infiltrating disease.
Published: 2021

22. Sacrospinous ligament fixation: medium and long-term anatomical results, functional and quality of life results

Author: Jennifer Asmar, Marie Carbonnel, Aurélie Revaux, Jean-Marc Ayoubi, Rouba Murtada, Angeline Favre-Inhofer, Hôpital Foch [Suresnes], Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), and École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)
Subjects: Quality of life, medicine.medical_specialty, 030232 urology & nephrology, Physical examination, lcsh:Gynecology and obstetrics, 03 medical and health sciences, Gynecologic Surgical Procedures, 0302 clinical medicine, Sacrospinous fixation, Surveys and Questionnaires, medicine.ligament, medicine, Humans, lcsh:RG1-991, Retrospective Studies, Fixation (histology), Ligaments, 030219 obstetrics & reproductive medicine, Pelvic floor, medicine.diagnostic_test, business.industry, lcsh:Public aspects of medicine, Sacrospinous ligament, Obstetrics and Gynecology, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, lcsh:RA1-1270, General Medicine, 3. Good health, Surgery, Pelvic organ prolapse, Distress, Treatment Outcome, medicine.anatomical_structure, Reproductive Medicine, Vagina, Female, Observational study, Neoplasm Recurrence, Local, Anatomical results, Complication, business, Research Article
Abstract: Background To evaluate the medium and long-term anatomical results of sacrospinous ligament fixation (SLF) and its impact on quality of life (QoL). Methods We conducted a retrospective and observational single centre study. Fifty-nine patients were interviewed using the Pelvic Floor Distress Inventory and Pelvic Floor Impact Questionnaire and underwent physical examination using POP-Q several years after SLF. Primary outcome was the comparison of anatomic results of SLF at medium-term (group 1: 1–5 years after surgery) and long-term (group 2: more than 5 years after surgery). The secondary outcome was QoL evaluation. Results The overall recurrence and complication rates were respectively 22% and 10%, with no significant differences between groups 1 and 2. The recurrence rate was similar in both groups [twelve (35%) in group 1 and nine (20%) in group 2, p = 0.09]. Two patients (12%) in the recurrence and none in the no recurrence group had clinical symptoms (p = 0.08). Two patients (12%) in the recurrence and one patient (2%) in the no-recurrence group had a significant impact on their quality of life (p = 0.12). Conclusion This study showed sustainable anatomic and functional results of SLF in medium and long-term analysis with overall low morbidity.
Published: 2021

23. How to… evaluate the proper placement and effectiveness of an intrauterine tamponade balloon for postpartum hemorrhage?

Author: Paul Berveiller, Myrtille Pauchet, Charles Garabedian, Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de gynécologie et obstétrique [CHI Poissy-Saint Germain], CHI Poissy-Saint-Germain, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), and Hôpital Jeanne de Flandre [Lille]
Subjects: Efficacité, Gynecology, Intrauterine balloon tamponade, medicine.medical_specialty, 030219 obstetrics & reproductive medicine, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, business.industry, Hémorragie du post-partum, Obstetrics and Gynecology, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, Efficacity, 03 medical and health sciences, Post partum hemorrhage, Échographie, 0302 clinical medicine, Reproductive Medicine, Ultrasound, medicine, Post-partum hemorrhage, 030212 general & internal medicine, business, Ballon de tamponnement intra-utérin, ComputingMilieux_MISCELLANEOUS, Placement
Abstract: International audience
Published: 2021

24. Validation of the French IVF guidelines during the COVID-19 pandemic

Author: Marine Poulain, Stephanie Ranga, Paul Pirtea, Catherine Racowsky, Camille Fossard, Eric Farfour, Jessica Vandame, M. Filali, Marc Vasse, Jean-Marc Ayoubi, Achraf Benammar, Hôpital Foch [Suresnes], Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Brigham & Women’s Hospital [Boston] (BWH), and Harvard Medical School [Boston] (HMS)
Subjects: 0301 basic medicine, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), MESH: COVID-19 Female Fertilization in Vitro Humans Pandemics RNA, Viral SARS-CoV-2, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Population, Follicular fluid, 03 medical and health sciences, 0302 clinical medicine, Follicular phase, Pandemic, medicine, Viral rna, education, education.field_of_study, 030219 obstetrics & reproductive medicine, Obstetrics, business.industry, COVID-19, Obstetrics and Gynecology, Medical practice, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, 3. Good health, 030104 developmental biology, Reproductive Medicine, IVF, French guidelines, business, Developmental Biology
Abstract: International audience; Research question: Is a symptom questionnaire as per the French IVF guidelines adequate for screening patients during the COVID-19 pandemic?Design: Patients planning IVF from June 2020 to February 2021 were included in the study. In compliance with French IVF guidelines, all patients fever-free on the day of oocyte retrieval were screened for risk of COVID-19 by completing a symptom questionnaire after being counselled regarding the importance of a COVID-19-free medical practice. Patients with IVF planned between June and September 2020 only completed the questionnaire (group 1), while those planning IVF after September 2020 also underwent the RT-PCR test for SARS-CoV-2 RNA (group 2). Cycle cancellation rates between groups were compared. Group 1 patients consented for follicular fluid testing for SARS-CoV-2 and an interview after cycle completion to determine COVID-19 exposure during the 6 months before and after retrieval.Results: Cycle cancellation rates for groups 1 and 2 were 0% (0/214) versus 1.4% (8/577), respectively, (P = 0.116). All 183 follicular fluid samples from group 1 were negative for SARS-CoV-2 RNA. Of 171 patients interviewed post-IVF, 16 (93.4%) developed COVID-19 symptoms or a positive real-time PCR (RT-PCR) RT-PCR test, but none within 2 months pre- or post-retrieval.Conclusions: These results provide reassurance that, consistent with the COVID-19 French IVF guidelines, use of a symptom questionnaire is effective in screening patients planning to undergo IVF. Failure to detect viral RNA in any follicular fluid sample does not negate the possibility that follicular fluid is a viral reservoir. However, the findings provide reassurance that the follicular environment in this study's carefully screened population was COVID-free.
Published: 2021

25. Conceptus-induced, interferon tau-dependent gene expression in bovine endometrial epithelial and stromal cells†

Author: Daniel J Mathew, Susanta K. Behura, Gilles Charpigny, Lindsay F Grose, I. Martin Sheldon, Patrick Lonergan, James G. Cronin, Heather L Chaney, Thomas E. Spencer, West Virginia University [Morgantown], Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), University of Missouri System, Swansea University, University College Dublin [Dublin] (UCD), and University of Tennessee System
Subjects: 0301 basic medicine, Stromal cell, interferon tau, Pregnancy Proteins, Biology, Endometrium, 03 medical and health sciences, 0302 clinical medicine, Gene expression, medicine, Animals, Conceptus, Embryo Implantation, endometrium, Receptors, Ghrelin, Fibroblast, Sheep, 030219 obstetrics & reproductive medicine, RNA-Binding Proteins, Epithelial Cells, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Cell Biology, General Medicine, Fibroblasts, Embryo, Mammalian, Coculture Techniques, Cell biology, Interferon tau, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, conceptus, Reproductive Medicine, Interferon Type I, Cattle, Female, stromal, Stromal Cells, IRF8, Signal transduction, epithelium, transcriptome
Abstract: Bovine endometrium consists of epithelial and stromal cells that respond to conceptus interferon tau (IFNT), the maternal recognition of pregnancy (MRP) signal, by increasing expression of IFN-stimulated genes (ISGs). Endometrial epithelial and stromal-cell-specific ISGs are largely unknown but hypothesized to have essential functions during pregnancy establishment. Bovine endometrial epithelial cells were cultured in inserts above stromal fibroblast (SF) cells for 6 h in medium alone or with IFNT. The epithelial and SF transcriptomic response was analyzed separately using RNA sequencing and compared to a list of 369 DEGs recently identified in intact bovine endometrium in response to elongating bovine conceptuses and IFNT. Bovine endometrial epithelial and SF shared 223 and 70 DEGs in common with the list of 369 endometrial DEGs. Well-known ISGs identified in the epithelial and SF were ISG15, MX1, MX2, and OAS2. DEGs identified in the epithelial but not SF included a number of IRF molecules (IRF1, IRF2, IRF3, and IRF8), mitochondria SLC transporters (SLC25A19, SLC25A28, and SLC25A30), and a ghrelin receptor. Expression of ZC3HAV1, an anti-retroviral gene, increased specifically within the SF. Gene ontology analysis identified the type I IFN signaling pathway and activation of nuclear factor kappa B transcription factors as biological processes associated with the epithelial cell DEGs. This study has identified biologically relevant IFNT-stimulated genes within specific endometrial cell types. The findings provide critical information regarding the effects of conceptus IFNT on specific endometrial compartments during early developmental processes in cattle.Summary sentenceConceptus-induced, interferon-tau-dependent genes were identified within bovine endometrial epithelial and stromal fibroblast cells providing critical information regarding conceptus-induced modifications to specific endometrial compartments in cattle.
Published: 2020

26. Obésité et perte de poids maternelle chez la souris : effets métaboliques olfactifs et epigénétiques sur la descendance mâle et femelle

Author: Anne Gabory, Marion Lemaire, Marie-Christine Lacroix, Christophe Breton, Polina Panchenko, Claudine Junien, Sofiane Safi-Stibler, Nicolas Meunier, Mélanie Jouin, Christine Baly, Hélène Jammes, Karine Badonnel, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), École nationale vétérinaire d'Alfort (ENVA), Neurobiologie de l'olfaction (NBO), Institut National de la Recherche Agronomique (INRA), Équipe Malnutrition Maternelle et Programmation des Maladies Métaboliques, Université de Lille, École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), and École nationale vétérinaire - Alfort (ENVA)
Subjects: 0301 basic medicine, Programmation, Placenta, Epigenetic machinery, Preconceptional weight loss, 03 medical and health sciences, 0302 clinical medicine, Perte de poids préconceptionnelle, Obesity, Obésité, DOHaD Maternal obesity, [SDV.BDD]Life Sciences [q-bio]/Development Biology, ComputingMilieux_MISCELLANEOUS, 2. Zero hunger, Fetal growth restriction, Épigénétique, DOHaD, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, General Medicine, Lysine acetyltransferases (KATs), Olfaction, 030104 developmental biology, Liver, Programming, Histone deacetylases (HDACs), [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, 030217 neurology & neurosurgery
Abstract: Resume Objectifs Selon le concept des « origines developpementales de la sante et des maladies », l’obesite maternelle predispose la descendance aux maladies chroniques. Pour de multiples raisons, une perte de poids preconceptionnelle est recommandee aux femmes obeses. Cependant, les avantages et les potentiels inconvenients pour l’enfant a naitre sont encore mal etudies. Methodes Nous avons evalue le developpement fœtal et analyse l’expression de modificateurs epigenetiques et de genes metaboliques dans le foie et le placenta. Les descendants nes de mere « controle », « obese » ou « perte de poids » ont ete soumis apres le sevrage a un regime controle ou hyperlipidique. Nous avons suivi les parametres metaboliques et les comportements olfactifs jusqu’a l’âge adulte. Resultats Les fœtus de mere obese presentent une restriction de croissance et une alteration de l’expression de modificateurs epigenetiques de la voie d’acetylation des histones. Les phenotypes metaboliques et olfactifs (obesite, dyslipidemie, intolerance au glucose et faible motivation et capacite a trouver une recompense alimentaire) s’expliquent principalement par le regime post-sevrage, mais l’obesite maternelle a un effet notable de conditionnement dependant du sexe : les mâles nes de mere obese developpent une obesite accrue par rapport a leurs congeneres. La perte de poids preconceptionnelle normalise les phenotypes fœtaux et metaboliques decrits ci-dessus, mais certains genes restent differentiels. De plus, elle a des effets inattendus sur les performances olfactives : la sensibilite olfactive peripherique et la motivation induite par le jeune sont reduites. Conclusions Nos resultats confirment les avantages d’une perte de poids preconceptionnelle pour la sante metabolique des descendants, mais revelent de potentiels effets indesirables tels qu’observes pour le comportement olfactif.
Published: 2020

27. Effects of F0 maternal diesel engine exhaust exposure during gestation on F1 and F2 offspring phenotype

Author: Couturier-Tarrade, Anne, Rousseau-Ralliard, Delphine, Valentino, Sarah A., Richard, Christophe, Hoarau, Pauline, Aioun, Josiane, Aubrière, Marie-Christine, Dahirel, Michèle, Lallemand, Marie Sylvie, Jouneau, Luc, Archilla, Catherine, Duranthon, Véronique, Morillon, Lucie, Guinot, Marine, Fournier, Natalie, Morin, Gwendoline, Mourier, Eve, Camous, Sylvaine, Fokkens, Paul H., Boere, John A., Slama, Rémy, Cassee, Flemming R., Chavatte-Palmer, Pascale, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Sciences de l'Animal et de l'Aliment de Jouy (SAAJ), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), National Institute for Public Health and the Environment [Bilthoven] (RIVM), Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), and Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)
Subjects: [SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2022

28. Involving Animal Models in Uterine Transplantation

Author: Angeline Favre-Inhofer, Marie Carbonnel, Johanna Domert, Nathalie Cornet, Sylvie Chastant, Raphaël Coscas, François Vialard, Valérie Gelin, Laurent Galio, Christophe Richard, Héla Trabelsi, Olivier Sandra, Dominique de Ziegler, Pascale Chavatte-Palmer, Jean-Marc Ayoubi, Chavatte-Palmer, Pascale, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital Foch [Suresnes], NeoCare, Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Hôpital Ambroise Paré [AP-HP], Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, and CHI Poissy-Saint-Germain
Subjects: sheep, [SDV.BDLR.RS] Life Sciences [q-bio]/Reproductive Biology/Sexual reproduction, uterus, animal, Surgery, animal models, transplantation, [SDV.BDLR.RS]Life Sciences [q-bio]/Reproductive Biology/Sexual reproduction
Abstract: BackgroundAbsolute uterine factor infertility affects 0. 2% women of childbearing age around the world. Uterine transplantation (UTx) is a promising solution for many of them since the first birth from UTx was described by the Swedish team in 2014. The success of Utx in humans has become possible after a systematic and meticulous approach involving years of research on animal models. To date, more than 80 UTx procedures have been performed worldwide and 30 children were born.Material and MethodThis review summarizes the research preparation conducted in animals before beginning UTx in humans. It focuses on the advantages and limits of each animal model, their place in surgical training, and current contribution in research to improve UTx successes in humans. The different steps in the process of UTx have been analyzed, such as imaging, surgery, ischemia-reperfusion effects, rejection markers, immunosuppressive treatment, and pregnancy.ConclusionAnimal models have played an essential role in the implementation of UTx, which is a highly complex procedure. While respecting the 3R requirements (replacement, refinement, and reduction), the surgical training using large animal models, such as notably ewes remain irreplaceable for teams wishing to initiate a UTx program. Furthermore, animal models are still mandatory in current research to improve the success rates of UTx in humans as well as to reduce the morbidity associated with this experimental infertility treatment.
Published: 2022

29. L’activité de l’AMPK garante de la barrière épithéliale de l’intestin

Author: Séverine Olivier, Hanna Diounou, Marc Foretz, Sandra Guilmeau, Noëmie Daniel, André Marette, Malvyne Rolli-Derkinderen, Benoit Viollet, Détection, évaluation, gestion des risques CHROniques et éMErgents (CHROME) / Université de Nîmes (CHROME), Université de Nîmes (UNIMES), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université Laval [Québec] (ULaval), The Enteric Nervous System in gut and brain disorders [U1235] (TENS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Institut Universitaire de Cardiologie et de Pneumologie de Québec (IUCPQ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), and ROLLI-DERKINDEREN, MALVYNE
Subjects: [SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio], General Medicine, General Biochemistry, Genetics and Molecular Biology, ComputingMilieux_MISCELLANEOUS
Abstract: International audience; No abstract available
Published: 2022

30. The eutopic endometrium proteome in endometriosis reveals candidate markers and molecular mechanisms of physiopathology

Author: Loren Méar, Emmanuelle Com, Khadija Fathallah, Laetitia Guillot, Régis Lavigne, Blandine Guével, Arnaud Fauconnier, François Vialard, Charles Pineau, Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Proteomics Core Facility (Protim), Université de Rennes (UR)-Plateforme Génomique Santé Biogenouest®, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Service de gynécologie et obstétrique [CHI Poissy-Saint Germain], CHI Poissy-Saint-Germain, and This work was supported by funding from Endofrance (www.endofrance.org, accessed on 16 December 2021), Endomind (www.endomind.org, accessed on 16 December 2021), and IRSF (www.irsf.fr, accessed on 16 December 2021). L. Méar holds a fellowship from Endofrance (www.endofrance.org, accessed on 16 December 2021) and Endomind (www.endomind.org, accessed on 16 December 2021). This work was also supported by structural grants from Biogenouest, Infrastructures en Biologie Santé et Agronomie (IBiSA), and the Conseil Régional de Bretagne awarded to C.P.
Subjects: endometriosis, biomarkers, proteomics, [SDV]Life Sciences [q-bio], Clinical Biochemistry
Abstract: International audience; Endometriosis is a common chronic gynaecological disease causing various symptoms, such as infertility and chronic pain. The gold standard for its diagnosis is still laparoscopy and the biopsy of endometriotic lesions. Here, we aimed to compare the eutopic endometrium from women with or without endometriosis to identify proteins that may be considered as potential biomarker candidates. Eutopic endometrium was collected from patients with endometriosis (n = 4) and women without endometriosis (n = 5) during a laparoscopy surgery during the mid-secretory phase of their menstrual cycle. Total proteins from tissues were extracted and digested before LC-MS-MS analysis. Among the 5301 proteins identified, 543 were differentially expressed and enriched in two specific KEGG pathways: focal adhesion and PI3K/AKT signaling. Integration of our data with a large-scale proteomics dataset allowed us to highlight 11 proteins that share the same trend of dysregulation in eutopic endometrium, regardless of the phase of the menstrual cycle. Our results constitute the first step towards the identification of potential promising endometrial diagnostic biomarkers. They provide new insights into the mechanisms underlying endometriosis and its etiology. Our results await further confirmation on a larger sample cohort.
Published: 2022

31. Neonatal cyanosis with Hb St Mandé, a low O 2 affinity hemoglobin variant affecting β‐globin

Author: Alix Millet, Stéphane Moutereau, Pascal Boileau, Frédéric Galacteros, Emmanuelle Motte‐Signoret, CHI Poissy-Saint-Germain, Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), and École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)
Subjects: Oncology, [SDV]Life Sciences [q-bio], Pediatrics, Perinatology and Child Health, Hematology, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2022

32. CEP250 is Required for Maintaining Centrosome Cohesion in the Germline and Fertility in Male Mice

Author: Sandrine Floriot, Laura Bellutti, Johan Castille, Pauline Moison, Sébastien Messiaen, Bruno Passet, Laurent Boulanger, Abdelhak Boukadiri, Sophie Tourpin, Christian Beauvallet, Marthe Vilotte, Julie Riviere, Christine Péchoux, Maud Bertaud, Jean-Luc Vilotte, Gabriel Livera, Génétique Animale et Biologie Intégrative (GABI), AgroParisTech-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Stabilité génétique, cellules souches et radiations (SGCSR (U_1274 / UMR_E_008)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Université Paris Cité (UPCité), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut Universitaire de France, ANR-14-CE19-0011,BOVANO,Identification et analyse fonctionnelle d'anomalies génétiques bovines(2014), ANR-18-CE14-0038,MEIOSIL,Dynamique transcripionnelle lors de l'entrée en méiose(2018), Vilotte, Jean-Luc, Appel à projets générique - Identification et analyse fonctionnelle d'anomalies génétiques bovines - - BOVANO2014 - ANR-14-CE19-0011 - Appel à projets générique - VALID, and APPEL À PROJETS GÉNÉRIQUE 2018 - Dynamique transcripionnelle lors de l'entrée en méiose - - MEIOSIL2018 - ANR-18-CE14-0038 - AAPG2018 - VALID
Subjects: Cell and Developmental Biology, centrosome, [SDV.BDLR.RS] Life Sciences [q-bio]/Reproductive Biology/Sexual reproduction, QH301-705.5, oogenesis, meiosis, DNA damage, Cell Biology, Biology (General), spermatogenesis, Developmental Biology, Original Research, [SDV.BDLR.RS]Life Sciences [q-bio]/Reproductive Biology/Sexual reproduction
Abstract: Male gametogenesis involves both mitotic divisions to amplify germ cell progenitors that gradually differentiate and meiotic divisions. Centrosomal regulation is essential for both types of divisions, with centrioles remaining tightly paired during the interphase. Here, we generated and characterized the phenotype of mutant mice devoid of Cep250/C-Nap1, a gene encoding for a docking protein for fibers linking centrioles, and characterized their phenotype. The Cep250-/- mice presented with no major defects, apart from male infertility due to a reduction in the spermatogonial pool and the meiotic blockade. Spermatogonial stem cells expressing Zbtb16 were not affected, whereas the differentiating spermatogonia were vastly lost. These cells displayed abnormal γH2AX-staining, accompanied by an increase in the apoptotic rate. The few germ cells that survived at this stage, entered the meiotic prophase I and were arrested at a pachytene-like stage, likely due to synapsis defects and the unrepaired DNA double-strand breaks. In these cells, centrosomes split up precociously, with γ-tubulin foci being separated whereas these were closely associated in wild-type cells. Interestingly, this lack of cohesion was also observed in wild-type female meiocytes, likely explaining the normal fertility of Cep250-/- female mice. Taken together, this study proposes a specific requirement of centrosome cohesion in the male germline, with a crucial role of CEP250 in both differentiating spermatogonia and meiotic spermatocytes.
Published: 2022

33. Equine embryo size does matter!

Author: Derisoud, E., Jouneau, L., Margat, A., Gourtay, C., Dubois, C., Archilla, C., Jaszczyszyn, Y., Dahirel, M., Daniel, N., Peynot, N., Briot, L., de Geoffroy, F., Wimel, L., Duranthon, V., Chavatte-Palmer, Pascale, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), La Jumenterie du Pin [IFCE], Institut Français du Cheval et de l'Equitation [Saumur] (IFCE)-Institut Français du Cheval et de l'Equitation, Institut Français du Cheval et de l'Equitation [Saumur] (IFCE), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), IFCE projet EPAJ, and International Society of Embryo Technology
Subjects: [SDV.BA.MVSA]Life Sciences [q-bio]/Animal biology/Veterinary medicine and animal Health, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, [SDV.SA.ZOO]Life Sciences [q-bio]/Agricultural sciences/Zootechny, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2022

34. Ovine fetal testis stage-specific sensitivity to environmental chemical mixtures

Author: Richard G Lea, Beatrice Mandon-Pépin, Benoit Loup, Elodie Poumerol, Luc Jouneau, Biola F Egbowon, Adelle Bowden, Corinne Cotinot, Laura Purdie, Zulin Zhang, Paul A Fowler, Kevin D Sinclair, University of Nottingham, UK (UON), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), The James Hutton Institute, University of Aberdeen, and European Project: 212885,EC:FP7:ENV,FP7-ENV-2007-1,REEF(2008)
Subjects: Male, Embryology, Sheep, Sewage, Obstetrics and Gynecology, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Cell Biology, Fetus, Endocrinology, Reproductive Medicine, Pregnancy, Testis, environmental chemical mixtures, Animals, Humans, stage-specific sensitivity, Female, Testosterone, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Sheep, Domestic
Abstract: International audience; Exposure of the fetal testis to numerous individual environmental chemicals (ECs) is frequently associated with dysregulated development, leading to impaired adult reproductive competence. However, ‘real-life’ exposure involves complex mixtures of ECs. Here we test the consequences, for the male fetus, of exposing pregnant ewes to EC mixtures derived from pastures treated with biosolids fertiliser (processed human sewage). Fetal testes from continuously exposed ewes were either unaffected at day 80 or exhibited a reduced area of testis immunostained for CYP17A1 protein at day 140. Fetal testes from day 140 pregnant ewes that were exposed transiently for 80-day periods during early (0–80 days), mid (30–110 days), or late (60–140 days) pregnancy had fewer Sertoli cells and reduced testicular area stained for CYP17A1. Male fetuses from ewes exposed during late pregnancy also exhibited reduced fetal body, adrenal and testis mass, anogenital distance, and lowered testosterone; collectively indicative of an anti-androgenic effect. Exposure limited to early gestation induced more testis transcriptome changes than observed for continuously exposed day 140 fetuses. These data suggest that a short period of EC exposure does not allow sufficient time for the testis to adapt. Consequently, testicular transcriptomic changes induced during the first 80 days of gestation may equate with phenotypic effects observed at day 140. In contrast, relatively fewer changes in the testis transcriptome in fetuses exposed continuously to ECs throughout gestation are associated with less severe consequences. Unless corrected by or during puberty, these differential effects would predictably have adverse outcomes for adult testicular function and fertility.
Published: 2022

35. Transcriptome Architecture of Osteoblastic Cells Infected With Staphylococcus aureus Reveals Strong Inflammatory Responses and Signatures of Metabolic and Epigenetic Dysregulation

Author: Nicolas, Aurélie, Deplanche, Martine, Commere, Pierre-Henri, Diot, Alan, Genthon, Clemence, Marques da Silva, Wanderson, Azevedo, Vasco, Germon, Pierre, Jammes, Hélène, Guédon, Eric, Le Loir, Yves, Laurent, Fréderic, Bierne, Hélène, Berkova, Nadia, Giboulot, Anne, Marqueurs de la persistance intracellulaire de Listeria monocytogenes - - PERMALI2020 - ANR-20-CE35-0001 - AAPG2020 - VALID, Thérapies épigénétiques pour esquiver la résistance - - TherAEPI2020 - ANR-20-PAMR-0011 - PAMR - VALID, Organisation et montée en puissance d'une Infrastructure Nationale de Génomique - - France-Génomique2010 - ANR-10-INBS-0009 - INBS - VALID, Science et Technologie du Lait et de l'Oeuf (STLO), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut Agro Rennes Angers, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Centre de Ressources et de Recherche Technologique - Center for Technological Resources and Research (C2RT), Institut Pasteur [Paris] (IP)-Université Paris Cité (UPCité), Cytometrie et Biomarqueurs – Cytometry and Biomarkers (UTechS CB), Centre International de Recherche en Infectiologie - UMR (CIRI), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), Génome et Transcriptome - Plateforme Génomique ( GeT-PlaGe), Plateforme Génome & Transcriptome (GET), Génopole Toulouse Midi-Pyrénées [Auzeville] (GENOTOUL), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Génopole Toulouse Midi-Pyrénées [Auzeville] (GENOTOUL), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Universidade Federal de Minas Gerais = Federal University of Minas Gerais [Belo Horizonte, Brazil] (UFMG), Infectiologie et Santé Publique (UMR ISP), Université de Tours (UT)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), MICrobiologie de l'ALImentation au Service de la Santé (MICALIS), AgroParisTech-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Metaprogram INRAE, GISA, LONGhealth–MPP10573, ANR-20-CE35-0001,PERMALI,Marqueurs de la persistance intracellulaire de Listeria monocytogenes(2020), ANR-20-PAMR-0011,TherAEPI,Thérapies épigénétiques pour esquiver la résistance(2020), ANR-10-INBS-0009,France-Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010), Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Toulouse (UT)-Université de Toulouse (UT)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Génopole Toulouse Midi-Pyrénées [Auzeville] (GENOTOUL), and Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)
Subjects: Microbiology (medical), Staphylococcus aureus, transcriptomics, Infectious Diseases, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, epigenetics, Immunology, osteoblasts, persistence, Microbiology, metabolism, [SDV.MP] Life Sciences [q-bio]/Microbiology and Parasitology, immune response
Abstract: Staphylococcus aureus is an opportunistic pathogen that causes a range of devastating diseases including chronic osteomyelitis, which partially relies on the internalization and persistence of S. aureus in osteoblasts. The identification of the mechanisms of the osteoblast response to intracellular S. aureus is thus crucial to improve the knowledge of this infectious pathology. Since the signal from specifically infected bacteria-bearing cells is diluted and the results are confounded by bystander effects of uninfected cells, we developed a novel model of long-term infection. Using a flow cytometric approach we isolated only S. aureus-bearing cells from mixed populations that allows to identify signals specific to intracellular infection. Here we present an in-depth analysis of the effect of long-term S. aureus infection on the transcriptional program of human osteoblast-like cells. After RNA-seq and KEGG and Reactome pathway enrichment analysis, the remodeled transcriptomic profile of infected cells revealed exacerbated immune and inflammatory responses, as well as metabolic dysregulations that likely influence the intracellular life of bacteria. Numerous genes encoding epigenetic regulators were downregulated. The later included genes coding for components of chromatin-repressive complexes (e.g., NuRD, BAHD1 and PRC1) and epifactors involved in DNA methylation. Sets of genes encoding proteins of cell adhesion or neurotransmission were also deregulated. Our results suggest that intracellular S. aureus infection has a long-term impact on the genome and epigenome of host cells, which may exert patho-physiological dysfunctions additionally to the defense response during the infection process. Overall, these results not only improve our conceptual understanding of biological processes involved in the long-term S. aureus infections of osteoblast-like cells, but also provide an atlas of deregulated host genes and biological pathways and identify novel markers and potential candidates for prophylactic and therapeutic approaches.
Published: 2022

36. Republication de: recommandations formalisées d'experts. Prise en charge de la patiente avec une pré-éclampsie sévère–RFE communes Société française d'anesthésie-réanimation (SFAR)–Collège national des gynécologues et obstétriciens français (CGNOF)

Author: Bonnet, Marie Pierre, Garnier, Marc, Keita, Hawa, Compere, Vincent, Arthuis, Chloé J., Raia-Barjat, Tiphaine, Berveiller, Paul, Burey, Julien, Bouvet, Lionel, Bruyère, Marie, Castel, Adeline, Clouqueur, Elodie M., Estevez, M. Gonzalez, Faitot, Valentina, Fischer, Catherine, Fuchs, F., Lecarpentier, Édouard R., Le Gouez, Agnès, Rigouzzo, Agnès, Rossignol, Matthias, Simon, E., Vial, Florence, Vivanti, Alexandre Joseph, Zieleskewicz, Laurent, Sénat, Marie Victoire, Schmitz, T., Sentilhes, Loïc, Arthuis, Chloé, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Equipe 1 : EPOPé - Épidémiologie Obstétricale, Périnatale et Pédiatrique (CRESS - U1153), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Département Médico-Universitaire réanimation anesthésie médecine péri-opératoire [Sorbonne Université] (DMU DREAM), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Saint-Antoine [AP-HP], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Rouen, Normandie Université (NU), Centre hospitalier universitaire de Nantes (CHU Nantes), INSERM U1059, SAINBIOSE - Santé, Ingénierie, Biologie, Saint-Etienne (SAINBIOSE-ENSMSE), Centre Ingénierie et Santé (CIS-ENSMSE), École des Mines de Saint-Étienne (Mines Saint-Étienne MSE), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-École des Mines de Saint-Étienne (Mines Saint-Étienne MSE), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], Service d'anesthésie-réanimation [Centre Hospitalier Lyon Sud - HCL], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Pôle d'anesthésie Réanimation [CHU de Toulouse], CHU Toulouse [Toulouse], Centre Hospitalier Tourcoing, Hôpital Jeanne de Flandre [Lille], Hôpital de Hautepierre [Strasbourg], Hôpital Cochin [AP-HP], Institut Desbrest de santé publique (IDESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre Hospitalier Intercommunal de Créteil (CHIC), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), AP-HP - Hôpital Antoine Béclère [Clamart], Service d'anesthésie-réanimation [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Département d'Anesthésie Réanimation SMUR [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Hôpital Lariboisière-Fernand-Widal [APHP], Service de Gynécologie Obstétrique, Médecine Foetale et Stérilité Conjugale - Chirurgie Gynécologie et Oncologique [CHU de Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital Nord [CHU - APHM], Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Hôpital Bicêtre, Hôpital Robert Debré, CHU Bordeaux [Bordeaux], Groupe de Recherche Clinique en Anesthésie Réanimation médecine PEriopératoire (GRC 29 - ARPE), Sorbonne Université (SU), Physiopathologie des Adaptations Nutritionnelles (PhAN), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Santé Ingénierie Biologie Saint-Etienne (SAINBIOSE), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], Pôle Anesthésie Réanimation [CHU de Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), and HAL UVSQ, Équipe
Subjects: medicine.medical_specialty, Severe preeclampsia, Eclampsia, business.industry, [SDV]Life Sciences [q-bio], Neonatal morbidity, Obstetrics and Gynecology, Evidence-based medicine, Guidelines, medicine.disease, Clinical Practice, Quality of evidence, [SDV] Life Sciences [q-bio], Reproductive Medicine, Intensive care, Family medicine, Anesthesiology, medicine, Grading (education), business, Maternal morbidity
Abstract: International audience; Objective: To provide national guidelines for the management of women with severe preeclampsia. Design: A consensus committee of 26 experts was formed. A formal conflict of interest (COI) policy was developed at the onset of the process and enforced throughout. The entire guidelines process was conducted independently of any industrial funding. The authors were advised to follow the principles of the Grading of Recommendations Assessment, Development and Evaluation (GRADE®) system to guide assessment of quality of evidence. The potential drawbacks of making strong recommendations in the presence of low-quality evidence were emphasized. Methods: The last SFAR and CNGOF guidelines on the management of women with severe preeclampsia was published in 2009. The literature is now sufficient for an update. The aim of this expert panel guidelines is to evaluate the impact of different aspects of the management of women with severe preeclampsia on maternal and neonatal morbidities separately. The experts studied questions within 7 domains. Each question was formulated according to the PICO (Patients Intervention Comparison Outcome) model and the evidence profiles were produced. An extensive literature review and recommendations were carried out and analyzed according to the GRADE® methodology. Results: The SFAR/CNGOF experts panel provided 25 recommendations: 8 have a high level of evidence (GRADE 1±), 9 have a moderate level of evidence (GRADE 2±), and for 7 recommendations, the GRADE method could not be applied, resulting in expert opinions. No recommendation was provided for 3 questions. After one scoring round, strong agreement was reached between the experts for all the recommendations. Conclusions: There was strong agreement among experts who made 25 recommendations to improve practices for the management of women with severe preeclampsia.
Published: 2022

37. Absence of Testicular Estrogen Leads to Defects in Spermatogenesis and Increased Semen Abnormalities in Male Rabbits

Author: Aurélie Dewaele, Emilie Dujardin, Marjolaine André, Audrey Albina, Hélène Jammes, Frank Giton, Eli Sellem, Geneviève Jolivet, Eric Pailhoux, Maëlle Pannetier, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Hôpital Henri Mondor, ANR-09-GENM-0009,GENIDOV,Réseaux géniques impliqués dans la différenciation ovarienne chez la chèvre et la souris(2009), ANR-13-BSV2-0017,ARGONADS,Acide rétinoique et devenir des cellules germinales(2013), ANR-20-CE14-0022,ARDIGERM,Acide rétinoïque dans la différenciation des cellules germinales et la méiose(2020), BREED, INRAE, Génomique et biotechnologies végétales - Réseaux géniques impliqués dans la différenciation ovarienne chez la chèvre et la souris - - GENIDOV2009 - ANR-09-GENM-0009 - GENOM-BTV - VALID, Blanc 2013 - Acide rétinoique et devenir des cellules germinales - - ARGONADS2013 - ANR-13-BSV2-0017 - Blanc 2013 - VALID, and Acide rétinoïque dans la différenciation des cellules germinales et la méiose - - ARDIGERM2020 - ANR-20-CE14-0022 - AAPG2020 - VALID
Subjects: CYP19A1 knock-out, male fertility, testicular estrogens, epididymis, spermatogenesis, sperm maturation, DNA methylation, Male, Mammals, Estrogens, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Semen, Testis, Genetics, Sperm Motility, Humans, Animals, Female, Rabbits, Genetics (clinical), [SDV.BDLR] Life Sciences [q-bio]/Reproductive Biology
Abstract: Estrogens are steroid hormones produced by the aromatization of androgens by the aromatase enzyme, encoded by the CYP19A1 gene. Although generally referred to as “female sex hormones”, estrogen is also produced in the adult testes of many mammals, including humans. To better understand the function of estrogens in the male, we used the rabbit model which is an important biomedical model. First, the expression of CYP19A1 transcripts was localized mainly in meiotic germ cells. Thus, testicular estrogen appears to be produced inside the seminiferous tubules. Next, the cells expressing ESR1 and ESR2 were identified, showing that estrogens could exert their function on post-meiotic germ cells in the tubules and play a role during sperm maturation, since ESR1 and ESR2 were detected in the cauda epididymis. Then, CRISPR/Cas9 CYP19A1−/− genetically modified rabbits were analyzed. CYP19A1−/− males showed decreased fertility with lower sperm count associated with hypo-spermatogenesis and lower spermatid number. Germ/sperm cell DNA methylation was unchanged, while sperm parameters were affected as CYP19A1−/− males exhibited reduced sperm motility associated with increased flagellar defects. In conclusion, testicular estrogens could be involved in the spermatocyte–spermatid transition in the testis, and in the acquisition of sperm motility in the epididymis.
Published: 2022

38. Analysis of Predictive Factors for Successful Vascular Anastomoses in a Sheep Uterine Transplantation Model

Author: Claire Le Gal, Marie Carbonnel, Vincent Balaya, Christophe Richard, Valerie Gelin, Laurent Galio, Olivier Sandra, Barbara Hersant, Romain Bosc, Johanna Charton, Pascale Chavatte-Palmer, François Vialard, Raphael Coscas, Jean-Marc Ayoubi, Chavatte-Palmer, Pascale, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Service de Gynécologie-Obstétrique [AP-HP Hôpital Foch], Hôpital Foch [Suresnes], Department of Maxillofacial and Plastic & Reconstructive Surgery, Henri Mondor University Hospital, 94000 Creteil, France, Department of Vascular Surgery, Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, and FRM
Subjects: sheep, uterus, transplantation, vascular, anastomoses, [SDV.MHEP.CHI] Life Sciences [q-bio]/Human health and pathology/Surgery, General Medicine, [SDV.MHEP.CHI]Life Sciences [q-bio]/Human health and pathology/Surgery
Abstract: International audience; Uterine transplantation is becoming an increasingly realistic therapeutic for uterine infertility. Surgical training on large animal models such as sheep is a prerequisite for establishing a program in humans. The objective of our study was to analyze the predictive factors for successful vascular anastomoses. We performed 40 autotransplants that involved end-to-side anastomoses from the uterine to the external iliac vessels. We analyzed vessel results in terms of success or failure; a total of 78.7% of arterial and 82.9% of venous anastomoses were successful in the immediate postoperative period. In multivariate analysis, independent factors associated with immediate successful vein anastomoses were as follows: a short warm ischemia time (
Published: 2022

39. Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature

Author: Céline Capron, Louis Januel, Gaëlle Vieville, Sylvie Jaillard, Paul Kuentz, Gaëlle Salaun, Gwenaël Nadeau, Patrice Clement, Marie Pierre Brechard, Bérénice Herve, Jean Michel Dupont, Nicolas Gruchy, Pascal Chambon, Fatma Abdelhedi, Eric Dahlen, Philippe Vago, Radu Harbuz, Ingrid Plotton, Charles Coutton, Marc‐Antoine Belaud‐Rotureau, Caroline Schluth‐Bolard, François Vialard, CHI Poissy-Saint-Germain, Hospices Civils de Lyon (HCL), Pôle Couple-Enfant, Département de Génétique et Procréation, Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), CHU Pontchaillou [Rennes], Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), CHU Clermont-Ferrand, Centre Hospitalier Métropole Savoie [Chambéry], Laboratoire Clément, Partenaires INRAE, Hôpital Saint-Joseph [Marseille], GHU AP-HP Centre Université de Paris, Service de Génétique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), CHU Rouen, Hedi Chaker Hospital [Sfax], Faculté de médecine - Faculty of Medicine [Sfax, Tunisie] (FMS), Université de Sfax - University of Sfax, Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), and École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)
Subjects: Male, chromosomal rearrangement, 46, XX Testicular Disorders of Sex Development, Urology, Endocrinology, Diabetes and Metabolism, XX SRY-positive male syndrome, arylsulfatase E gene, Testicular Diseases, replication-based mechanisms, Translocation, Genetic, PRKX, short stature, Endocrinology, Reproductive Medicine, Humans, Protein Kinases, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Arylsulfatases
Abstract: International audience; The translocation of SRY onto one of the two X chromosomes results in a 46,XX testicular disorder of sex development; this is supposedly due to non-allelic homologous recombination between the protein kinase X gene (PRKX) and the inverted protein kinase Y pseudogene (PRKY). Although 46,XX SRY-positive men are infertile, the literature data indicate that some of these individuals are of short stature (relative to the general population). We sought to determine whether short stature was linked to additional, more complex chromosomal rearrangements.Twelve laboratories gathered detailed clinical, anthropomorphic, cytogenetic and genetic data (including chromosome microarray (CMA) data) on patients with 46,XX SRY-positive male syndrome.SRY was present (suggesting a der(X)t(X;Y)) in 34 of the 38 cases (89.5%). When considering only the 20 patients with CMA data, we identified several chromosomal rearrangements and breakpoints - especially on the X chromosome. In the five cases for whom the X chromosome breakpoint was located in the pseudoautosomal (PAR) region, there was partial duplication of the derivate X chromosome. In contrast, in the 15 cases for whom the breakpoint was located downstream of the pseudoautosomal region, part of the derivate X chromosome had been deleted (included the arylsulfatase E (ARSE) gene in 11 patients). For patients with vs. without ARSE deletion, the mean height was respectively 167.7 ± 4.5 and 173.1 ± 4.0 cm; this difference was not statistically significant (p = 0.1005).Although 46,XX SRY-positive male syndromes were mainly due to imbalanced crossover between the X and Y chromosome during meiosis, the breakpoints differed markedly from one patient to another (especially on the X chromosome); this suggests the presence of a replication-based mechanism for recombination between non-homologous sequences. In some patients, the translocation of SRY to the X chromosome was associated with ARSE gene deletion, which might have led to short stature. With a view to explaining this disorder of sex development, whole exome sequencing could be suggested for SRY-negative patients. This article is protected by copyright. All rights reserved.
Published: 2022

40. Kick-starting ovarian cyclicity by using dietary glucogenic precursors in post-partum dairy cows: a review

Author: B Grimard, A A Ponter, Winai Kaewlamun, C Duvaux-Ponter, Chulalongkorn University [Bangkok], Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), École nationale vétérinaire d'Alfort (ENVA), Modélisation Systémique Appliquée aux Ruminants (MoSAR), AgroParisTech-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Chulalongkorn University, and Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-École nationale vétérinaire d'Alfort (ENVA)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Paris-Saclay
Subjects: 040301 veterinary sciences, [SDV]Life Sciences [q-bio], medicine.medical_treatment, media_common.quotation_subject, Physiology, ovarian function, Review Article, Biology, 0403 veterinary science, reproduction, Follicle, Ovarian cycles, medicine, Ovarian follicle, media_common, Post partum, Nutrition, 2. Zero hunger, General Veterinary, Reproductive success, Insulin, dairy cow, 0402 animal and dairy science, 04 agricultural and veterinary sciences, Metabolism, 040201 dairy & animal science, medicine.anatomical_structure, Reproduction, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, metabolism
Abstract: International audience; The objective of this review is to describe how dietary glucogenic precursors could stimulate ovarian activity in post-partum dairy cows and improve reproductive success. Although the nutrient requirements for the early resumption of ovarian cycles, and for follicle and embryo development are quantitatively small, reproductive success is deteriorated by post-partum negative energy balance. Since very little glucose is absorbed directly from the digestive tract of ruminants one of the targets for nutritional manipulation could be the glucogenic potential of the diet. This could be achieved by giving rumen-resistant starch or mono-propylene glycol. Both these adaptations increase glucose, insulin and insulin-like growth factor-1 plasma concentrations and stimulate ovarian follicle growth.
Published: 2020

41. Heterochromatin establishment during early mammalian development is regulated by pericentromeric RNA and characterized by non-repressive H3K9me3

Author: Juan M. Vaquerizas, Maria-Elena Torres-Padilla, Thomas Jenuwein, Elias R. Ruiz-Morales, Nathalie Beaujean, Xiaoyu Liu, Vincent Brochard, Sriharsa Pradhan, Stéphanie Le Gras, Hang Gyeong Chin, André Eid, Vishnu S. Udayakumar, Diego Rodriguez-Terrones, Quirze Rovira, Chenfei Wang, Adam Burton, Shaorong Gao, Carmen Galán, Kai Kruse, Institute of Epigenetics and Stem Cells (IES), Helmholtz Zentrum Munchen, München, Germany, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), University of Extremadura, Inmunologia y Genetica Aplicada, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Jiangsu Vocational College of Agriculture and Forestry, State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan-SJTU-Nottingham Plant Biotechnology R&D Center, Morgan-Tan International Center for Life Sciences, Fudan University [Shanghai], New England Biolabs, Max Planck Institute for Molecular Biomedicine, Max-Planck-Gesellschaft, Institut cellule souche et cerveau (U846 Inserm - UCBL1), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Recherche Agronomique (INRA), Max Planck Institute of Immunobiology and Epigenetics (MPI-IE), University Hospital of the Ludwig-Maximilians University, Biologie du développement et reproduction (BDR), École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA)-Centre National de la Recherche Scientifique (CNRS), Institut cellule souche et cerveau / Stem Cell and Brain Research Institute (U1208 Inserm - UCBL1 / SBRI), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Industrial Microbiology and Biotechnology, Faculty of Biology and Environmental Protection, University of Lodz, and University of Lódź
Subjects: Male, Heterochromatin, [SDV]Life Sciences [q-bio], Centromere, epigenetic reprogramming, Embryonic Development, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, Methylation, Article, Epigenesis, Genetic, H3K9me3, Histones, Mice, 03 medical and health sciences, 0302 clinical medicine, Gene expression, Animals, Constitutive heterochromatin, [SDV.BDD]Life Sciences [q-bio]/Development Biology, 030304 developmental biology, Epigenesis, Cell Nucleus, 0303 health sciences, Zygote, Pronucleus, fungi, Cell Biology, pre-implantation embryo, Embryo, Mammalian, Chromatin, Cell biology, Mice, Inbred C57BL, 030220 oncology & carcinogenesis, Mice, Inbred CBA, RNA, Female, Reprogramming
Abstract: Following fertilization in mammals, the gametes are reprogrammed to create a totipotent zygote, a process that involves de novo establishment of chromatin domains. A major feature occurring during preimplantation development is the dramatic remodelling of constitutive heterochromatin, although the functional relevance of this is unknown. Here, we show that heterochromatin establishment relies on the stepwise expression and regulated activity of SUV39H enzymes. Enforcing precocious acquisition of constitutive heterochromatin results in compromised development and epigenetic reprogramming, which demonstrates that heterochromatin remodelling is essential for natural reprogramming at fertilization. We find that de novo H3K9 trimethylation (H3K9me3) in the paternal pronucleus after fertilization is catalysed by SUV39H2 and that pericentromeric RNAs inhibit SUV39H2 activity and reduce H3K9me3. De novo H3K9me3 is initially non-repressive for gene expression, but instead bookmarks promoters for compaction. Overall, we uncover the functional importance for the restricted transmission of constitutive heterochromatin during reprogramming and a non-repressive role for H3K9me3.Burton et al. show that H3K9me3 deposition catalysed by SUV39H2 and regulated by pericentromeric RNAs in the mouse paternal pronucleus does not suppress gene expression, but bookmarks promoters for compaction.
Published: 2020

42. Investigating the role of BCAR4 in ovarian physiology and female fertility by genome editing in rabbit

Author: Rozenn Dalbies-Tran, Maud Peyny, Peggy Jarrier-Gaillard, Sébastien Lavillatte, Laurent Boulanger, Nathalie Daniel, Pascal Papillier, Véronique Duranthon, Geneviève Jolivet, Véronique Cadoret, Danielle Monniaux, Nathalie Peynot, Physiologie de la reproduction et des comportements [Nouzilly] (PRC), Institut Français du Cheval et de l'Equitation [Saumur]-Université de Tours-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Plateforme d'Infectiologie Expérimentale (PFIE), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), CHU Bretonneau, Médecine et Biologie de la Reproduction-CECOS, INRAE, Agence Nationale de la Biomédecine, Institut Français du Cheval et de l'Equitation [Saumur]-Université de Tours (UT)-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), and École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)
Subjects: 0301 basic medicine, rabbits, media_common.quotation_subject, [SDV]Life Sciences [q-bio], Embryonic Development, Gene Expression, Reproductive biology, lcsh:Medicine, Ovary, Biology, Oogenesis, Article, Andrology, 03 medical and health sciences, 0302 clinical medicine, Ovarian Follicle, Follicular phase, medicine, Animals, Blastocyst, Ovarian follicle, lcsh:Science, Ovulation, genome, media_common, Gene Editing, fertility, Multidisciplinary, lcsh:R, Functional genomics, Oocyte, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, ovulation, Female, RNA, Long Noncoding, lcsh:Q, Folliculogenesis, Anti-estrogen
Abstract: Breast Cancer Anti-estrogen Resistance 4 (BCAR4) was previously characterised in bovine species as a gene preferentially expressed in oocytes, whose inhibition is detrimental to in vitro embryo development. But its role in oogenesis, folliculogenesis and globally fertility in vivo remains unknown. Because the gene is not conserved in mice, rabbits were chosen for investigation of BCAR4 expression and function in vivo. BCAR4 displayed preferential expression in the ovary compared to somatic organs, and within the ovarian follicle in the oocyte compared to somatic cells. The transcript was detected in follicles as early as the preantral stage. Abundance decreased throughout embryo development until the blastocyst stage. A lineage of genome-edited rabbits was produced; BCAR4 expression was abolished in follicles from homozygous animals. Females of wild-type, heterozygous and homozygous genotypes were examined for ovarian physiology and reproductive parameters. Follicle growth and the number of ovulations in response to hormonal stimulation were not significantly different between genotypes. Following insemination, homozygous females displayed a significantly lower delivery rate than their heterozygous counterparts (22 ± 7% vs 71 ± 11% (mean ± SEM)), while prolificacy was 1.8 ± 0.7 vs 6.0 ± 1.4 kittens per insemination. In conclusion, BCAR4 is not essential for follicular growth and ovulation but it contributes to optimal fertility in rabbits.
Published: 2020

43. A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report

Author: Bérénice Hervé, François Vialard, Elodie Herzog, Marine Poulain, Hela Bellil, Jean-Marc Ayoubi, centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), and Hôpital Foch [Suresnes]
Subjects: Male, Offspring, Developmental Disabilities, medicine.medical_treatment, Meiotic arrest, Physiology, Prenatal diagnosis, Chromosome 9, 03 medical and health sciences, Pregnancy, Intellectual Disability, Prenatal Diagnosis, Genetics, Humans, Medicine, Abnormalities, Multiple, Supernumerary, Spermatogenesis, In Situ Hybridization, Fluorescence, Genetics (clinical), 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, 0303 health sciences, Sperm FISH, In vitro fertilisation, Mosaicism, business.industry, 030305 genetics & heredity, Obstetrics and Gynecology, Chromosome, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Oligospermia, General Medicine, Aneuploidy, medicine.disease, Spermatozoa, Phenotype, Reproductive Medicine, Karyotyping, Female, Abnormality, Tetrasomy 9p, Chromosomes, Human, Pair 9, business, Developmental Biology
Abstract: International audience; Tetrasomy 9p (ORPHA: 3310) (i(9p)) is a rare chromosomal imbalance. It is characterized by the presence of a supernumerary chromosome incorporating two copies of the short arm of chromosome 9 and is usually present in a mosaic state postnatally. Depending on the level of mosaicism, the phenotype ranges from mild developmental delay to multiple congenital anomalies with severe intellectual disability. Here, we report on a patient diagnosed with i(9p) mosaicism after the recurrent failure of in vitro fertilization. Although the patient's clinical phenotype was normal, the level of mosaicism varied greatly from one tissue to another. A sperm analysis evidenced subnormal spermatogenesis with chromosomally balanced spermatozoa and no risk of transmission to the offspring. Although individuals with i(9p) and no clinical manifestations have rarely been described, the prenatal diagnosis of this abnormality in the absence of ultrasound findings raises a number of questions.
Published: 2020

44. CHARACTERIZATION OF ESTROGEN PRODUCTION AND FUNCTION IN ADULT RABBIT TESTES

Author: Dewaele, Aurélie, Dujardin, Emilie, Jammes, Hélène, Giton, Franck, Mandon-Pepin, Béatrice, Sellem, Eli, André, Marjolaine, Albina, Audrey, Pailhoux, Eric, Jolivet, Geneviève, Pannetier, Maëlle, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), IMRB - 'NeuroPsychologie Interventionnelle' [Créteil] (U955 Inserm - UPEC), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Allice, and Pannetier, Maëlle
Subjects: [SDV.BDD.GAM] Life Sciences [q-bio]/Development Biology/Gametogenesis, endocrine system, [SDV.BDLR.RS] Life Sciences [q-bio]/Reproductive Biology/Sexual reproduction, [SDV]Life Sciences [q-bio], Estrogens, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, [SDV.BDLR.RS]Life Sciences [q-bio]/Reproductive Biology/Sexual reproduction, [SDV] Life Sciences [q-bio], reproduction, Sperm motility, Aromatase, Testis, CYP19A1, Rabbits, [SDV.BDLR] Life Sciences [q-bio]/Reproductive Biology, hormones, hormone substitutes, and hormone antagonists, [SDV.BDD.GAM]Life Sciences [q-bio]/Development Biology/Gametogenesis
Abstract: International audience; The rise of male fertility disorders these last few years appears to be linked to the increase of pollutants and other endocrine disruptors in our environment. Some of these factors can mimic or alter estrogen signaling. Therefore it is essential to better understand the role of estrogens in the male gamete production, in the aim to preserve fertility. Estrogens are steroid hormones produced by the aromatization of androgens through the enzyme aromatase, encoded by the CYP19A1 gene. Although they are usually referred as “female sex hormones”, estrogens are also produced in the adult testis. In mammalian species where CYP19A1/Aromatase expression has been studied, it is noteworthy that the localization of estrogen production varies. The rabbit is an important biomedical model and, to date, the role of estrogens in rabbit testis function is unknown. First, we identified cells expressing CYP19A1 and we showed that testicular estrogens are produced within the seminiferous tubules by germ cells. Then, testicular estrogen and androgen levels were quantified by gas chromatography/mass spectrometry (GC/MS), comparing wild-type and CYP19A1-/- rabbits generated by CRISPR/Cas9 technology. We showed that CYP19A1-/- testes were devoid of 17b-estradiol, while testosterone or androstenedione levels were not modified. As fertility was decreased in male CYP19A1-/- rabbits lacking estrogens (reduction of the number of pups per litter), we investigated several aspects, such as testis histology, DNA methylation of germ /sperm cells and sperm parameters. In particular, CYP19A1-/- males showed reduced sperm motility associated with increased flagellar defects. To highlight estrogen effects during spermatogenesis, high throughput transcriptomic studies are in progress.
Published: 2021

45. Alimenter la poulinière de la conception au poulinage

Author: Chavatte-Palmer, Pascale, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), and Conseil des chevaux des Hauts de France
Subjects: alimentation, nutrition, [SDV.BA.MVSA]Life Sciences [q-bio]/Animal biology/Veterinary medicine and animal Health, gestation, cheval, poulain
Abstract: National audience; Participation sur inscription-Fiche d'inscription sur le site du CCHDF Réservée aux professionnels de la filière équine, dont le siège est établi en Hauts-de-France, ainsi qu'aux professionnels de Flandres et de Wallonie pour la journée du 13 décembre.
Published: 2021

46. PCSC - Portail Calcul Stockage Cloud

Author: Adenot, Pierre, Ancelet, Estelle, Aubin, Sophie, Benaben, David, Berry, Damien, Braux, Emmanuel, Cahuzac, Éric, Chabrier, Patrick, Dehne-Garcia, Alexandre, de Lamotte, Frédéric, Frappier, Lise, Gay, Pierre, Houde, Loïc, Guerin, Pierre-Emmanuel, Jousse, Cyril, Laurent, Anne, Lerigoleur, Emilie, Marguin, Benjamin, Mathieu, Gilles, Nègre, Vincent, Ponts, Nadia, Rabemanantsoa, Tovo, Randriatoamanana, Richard, Rey, Jean-François, Roy, Fabrice, Sabatié, Sandrine, Salas, Daniel, Souchal, Martin, Tucsnak, Zenaida, Vigy, Oana, Voury, Pascal, Trincal, Florian, Jean-Charles, Arnaud, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Unité de Mathématiques et Informatique Appliquées de Toulouse (MIAT INRA), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Direction pour la Science Ouverte (DipSO), Biologie du fruit et pathologie (BFP), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université de Bordeaux (UB), Mathématiques et Informatique Appliquées du Génome à l'Environnement [Jouy-En-Josas] (MaIAGE), IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT), Biodiversité agroécologie et aménagement du paysage (UMR BAGAP), AGROCAMPUS OUEST, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Ecole supérieure d'Agricultures d'Angers (ESA)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Structures et Marché Agricoles, Ressources et Territoires (SMART-LERECO), Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université de Bordeaux (UB), Biostatistique et Processus Spatiaux (BioSP), École Centrale de Nantes (ECN), Université Clermont Auvergne (UCA), Université de Montpellier (UM), Laboratoire d'Informatique de Robotique et de Microélectronique de Montpellier (LIRMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Géographie de l'environnement (GEODE), Université Toulouse - Jean Jaurès (UT2J)-Centre National de la Recherche Scientifique (CNRS), Makina Corpus - Toulouse, Institut National de la Santé et de la Recherche Médicale (INSERM), Écophysiologie des Plantes sous Stress environnementaux (LEPSE), Centre international d'études supérieures en sciences agronomiques (Montpellier SupAgro)-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Unité de recherche Mycologie et Sécurité des Aliments (MycSA), Interactions Sol Plante Atmosphère (UMR ISPA), Ecole Nationale Supérieure des Sciences Agronomiques de Bordeaux-Aquitaine (Bordeaux Sciences Agro)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Laboratoire des Sciences du Numérique de Nantes (LS2N), Université de Nantes - UFR des Sciences et des Techniques (UN UFR ST), Université de Nantes (UN)-Université de Nantes (UN)-École Centrale de Nantes (ECN)-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), Laboratoire Univers et Théories (LUTH (UMR_8102)), Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut national des sciences de l'Univers (INSU - CNRS), Environnement, territoires et infrastructures (UR ETBX), AstroParticule et Cosmologie (APC (UMR_7164)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Passages, Centre National de la Recherche Scientifique (CNRS)-Université Bordeaux Montaigne-Université de Pau et des Pays de l'Adour (UPPA)-Ministère de la Culture et de la Communication (MCC)-Université de Bordeaux (UB), Plateforme de Protéomique Fonctionnelle (FPP), Pôle Protéome de Montpellier (PPM), Université de Montpellier (UM)-Université de Montpellier (UM), Grand Equipement National de Calcul Intensif (GENCI), Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Université de Bordeaux (UB)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), WEB-CUBE, Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Nantes - UFR des Sciences et des Techniques (UN UFR ST), Université de Nantes (UN)-Université de Nantes (UN)-École Centrale de Nantes (ECN)-Centre National de la Recherche Scientifique (CNRS), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Unité de Mathématiques et Informatique Appliquées de Toulouse (MIAT INRAE), IMT Atlantique (IMT Atlantique), Ecole supérieure d'Agricultures d'Angers (ESA)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-INSTITUT AGRO Agrocampus Ouest, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-INSTITUT AGRO Agrocampus Ouest, WEB Architecture x Semantic WEB x WEB of Data (WEB3), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut Agro - Montpellier SupAgro, Université de Nantes (UN)-Université de Nantes (UN)-École Centrale de Nantes (ECN)-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), and Université de Bordeaux (UB)-Ministère de la Culture et de la Communication (MCC)-Université de Pau et des Pays de l'Adour (UPPA)-Université Bordeaux Montaigne (UBM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: [INFO.INFO-WB]Computer Science [cs]/Web
Abstract: International audience; Portail Calcul Stockage Cloud (PCSC) is a project to build a collaborative directory for computing infrastructures (computing, data storage and cloud usages).The project is opened, jointly built and easily accessible.The main targets are:• to map out existing infrastructures (in JSON format and EOSC portal compliant)• to help users to choose the right infrastructure• to provide documentation on the use of infrastructures including a glossary, tips and tricks and usage docs.; Le Portail Calcul Stockage Cloud (PCSC) est un projet d'annuaire collaboratif des solutions de calcul, de stockage et de cloud.Le projet est ouvert, construit collectivement et facilement accessible.Objectifs :• inventorier les infrastructures existantes (outil d'aide à la saisie en ligne, description au format JSON, compatibilité avec le portail européen EOSC),• accompagner les utilisateurs dans le choix d’une infrastructure (sélection, condition d'accès, etc.),• documenter l'usage des solutions de calcul, de stockage ou de cloud (explication et description des solutions, comment les utiliser, cas d'usages, glossaire,trucs et astuces).
Published: 2021

47. Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series

Author: Marion Lesieur‐Sebellin, Marianne Till, Philippe Khau Van Kien, Bérénice Herve, Nicolas Bourgon, Céline Dupont, Anne‐Claude Tabet, Mathilde Barrois, Aurélie Coussement, Laurence Loeuillet, Eve Mousty, Vuthy Ea, Amal Assal, Laura Mary, Sylvie Jaillard, Claire Beneteau, Claudine Le Vaillant, Charles Coutton, Françoise Devillard, Carole Goumy, Amélie Delabaere, Sylvia Redon, Yves Laurent, Audrey Lamouroux, Jérôme Massardier, Catherine Turleau, Damien Sanlaville, Vincent Cantagrel, Pascale Sonigo, François Vialard, Laurent J. Salomon, Valérie Malan, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), AP-HP Hôpital universitaire Robert-Debré [Paris], Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Maternité Port-Royal [CHU Cochin], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHI Poissy-Saint-Germain, CHU Pontchaillou [Rennes], École des Hautes Études en Santé Publique [EHESP] (EHESP), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre hospitalier universitaire de Nantes (CHU Nantes), Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Centre Hospitalier Universitaire [Grenoble] (CHU), Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Groupe Hospitalier Bretagne Sud (GHBS), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes], Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de Cytogénétique Médicale [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Université de Brest (UBO), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Montpellier (UM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Service de radiologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Université Paris Cité (UPCité), Service Obstétrique [CHU Clermont-Ferrand], Institut Pascal (IP), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne (UCA)-Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA)-Université Clermont Auvergne (UCA), Thérapie guidée par l'image (TGI), and SIGMA Clermont (SIGMA Clermont)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS)-SIGMA Clermont (SIGMA Clermont)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS)
Subjects: Adult, phenotype mimicking heterozygous, INTELLECTUAL DISABILITY, [SDV]Life Sciences [q-bio], Chromosome Disorders, Trisomy, LONG ARM, brain malformations, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, 03 medical and health sciences, Pregnancy, FETUSES, MICROARRAY ANALYSIS, Humans, pathogenic variants, Genetics (clinical), 030304 developmental biology, Retrospective Studies, 0303 health sciences, Virulence, DEVELOPMENTAL DELAY, ABNORMALITIES, 030305 genetics & heredity, Calcium-Binding Proteins, REARRANGEMENTS, Obstetrics and Gynecology, Membrane Proteins, deletions, 3. Good health, NOTCH, Phenotype, DIFFERENTIATION, Chromosomes, Human, Pair 6, Female, MENTAL-RETARDATION
Abstract: International audience; OBJECTIVE: Terminal 6q deletion is a rare genetic condition associated with a neurodevelopmental disorder characterized by intellectual disability and structural brain anomalies. Interestingly, a similar phenotype is observed in patients harboring pathogenic variants in the DLL1 gene. Our study aimed to further characterize the prenatal phenotype of this syndrome as well as to attempt to establish phenotype-genotype correlations. METHOD: We collected ultrasound findings from 22 fetuses diagnosed with a pure 6qter deletion. We reviewed the literature and compared our 22 cases with 14 fetuses previously reported as well as with patients with heterozygous DLL1 pathogenic variants. RESULTS: Brain structural alterations were observed in all fetuses. The most common findings (>70%) were cerebellar hypoplasia, ventriculomegaly, and corpus callosum abnormalities. Gyration abnormalities were observed in 46% of cases. Occasional findings included cerebral heterotopia, aqueductal stenosis, vertebral malformations, dysmorphic features, and kidney abnormalities. CONCLUSION: This is the first series of fetuses diagnosed with pure terminal 6q deletion. Based on our findings, we emphasize the prenatal sonographic anomalies, which may suggest the syndrome. Furthermore, this study highlights the importance of chromosomal microarray analysis to search for submicroscopic deletions of the 6q27 region involving the DLL1 gene in fetuses with these malformations.
Published: 2021

48. Les animaux transformés : de la sélection génétique aux nouvelles technologies – Le point de vue du vétérinaire

Author: Pascale Chavatte-Palmer, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), and Bénédicte BEVIERE-BOYER, Amandine CAYOL, Emilie GAILLARD
Subjects: [SDV.BA.MVSA]Life Sciences [q-bio]/Animal biology/Veterinary medicine and animal Health, sélection animale, transanimalisme, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, edition de genome, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2021

49. The Sixth Edition of the WHO Manual for Human Semen Analysis: A Critical Review and SWOT Analysis

Author: Florence Boitrelle, Rupin Shah, Ramadan Saleh, Ralf Henkel, Hussein Kandil, Eric Chung, Paraskevi Vogiatzi, Armand Zini, Mohamed Arafa, Ashok Agarwal, CHI Poissy-Saint-Germain, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Lilavati Hospital and Research Centre, Sohag University, Imperial College London, University of the Western Cape, Cleveland Clinic, Fakih IVF Fertility Center, Princess Alexandra Hospital, Brisbane, McGill University = Université McGill [Montréal, Canada], Cairo University, and Hamad Medical Corporation [Doha, Qatar]
Subjects: 030219 obstetrics & reproductive medicine, Science, [SDV]Life Sciences [q-bio], 030232 urology & nephrology, Paleontology, WHO laboratory manual 6th Edition, semen, Review, SWOT, sperm, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Space and Planetary Science, oxidative stress, sperm DNA fragmentation, Ecology, Evolution, Behavior and Systematics
Abstract: International audience; Semen analysis is the cornerstone of male fertility evaluation with WHO guidelines providing the basis for procedural standardization and reference values worldwide. The first WHO manual was published in 1980, and five editions have been subsequently released over the last four decades. The 6th Edition was published in July 2021. In this review, we identify the key changes of this 6th Edition. Additionally, we evaluate the utility of this 6th Edition in clinical practice using SWOT (strengths, weaknesses, opportunities, and threats) analysis. This new Edition has made the analysis of basic semen parameters more robust, taking into account the criticisms and grey areas of the previous editions. The tests assessing sperm DNA fragmentation and seminal oxidative stress are well-described. The main novelty is that this latest edition abandons the notion of reference thresholds, suggesting instead to replace them with “decision limits”. While this seems attractive, no decision limits are proposed for either basic semen parameters, or for extended or advanced parameters. This critical review of the 6th Edition of the WHO laboratory manual combined with a SWOT analysis summarizes the changes and novelties present in this new Edition and provides an in-depth analysis that could help its global use in the coming years.
Published: 2021

50. Importance of Windows of Exposure to Maternal High-Fat Diet and Feto-Placental Effects: Discrimination Between Pre-conception and Gestational Periods in a Rabbit Model

Author: Rousseau-Ralliard, Delphine, AUBRIÈRE, Marie-Christine, Daniel, Nathalie, Dahirel, Michèle, Morin, Gwendoline, Prézelin, Audrey, Bertrand, Jérémy, Rey, Catherine, Chavatte-Palmer, Pascale, Couturier-Tarrade, Anne, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Sciences de l'Animal et de l'Aliment de Jouy (SAAJ), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), and Viroscan3D SAS [Lyon, France]
Subjects: fetal programming, placenta, Physiology, [SDV]Life Sciences [q-bio], Physiology (medical), high fat diet, embryonic structures, gene expression, rabbit, liver, fatty acids, Original Research
Abstract: International audience; Context and Aim: Lipid overnutrition in female rabbits, from prepuberty, leads to impaired metabolism (dyslipidemia and increased adiposity) and follicular atresia, and, when continued during gestation, affects offspring phenotype with intrauterine growth retardation (IUGR) and leads to placental and lipid metabolism abnormalities. Growth retardation is already observed in embryo stage, indicating a possible implication of periconceptional exposure. The objective of this study was to discriminate the effects of preconception and gestational exposures on feto-placental development. Materials and Methods: Rabbit 1-day zygotes were collected from female donors under control (CD) or high-fat-high-cholesterol (HD) diet and surgically transferred to the left and right uterus, respectively, of each H ( n = 6) or C ( n = 7) synchronized recipients. Close to term, four combinations, CC ( n = 10), CH ( n = 13), HC ( n = 13), and HH ( n = 6), of feto-placental units were collected, for biometry analyses. Fatty acid (FA) profiles were determined in placental labyrinth, decidua, fetal plasma, and fetal liver by gas chromatography and explored further by principal component analysis (PCA). Candidate gene expression was also analyzed by RT-qPCR in the placenta and fetal liver. Data were analyzed by Kruskal–Wallis followed by Dunn’s pairwise comparison test. Combinations of different data sets were combined and explored by multifactorial analysis (MFA). Results: Compared to controls, HH fetuses were hypotrophic with reduced placental efficiency and altered organogenesis, CH presented heavier placenta but less efficient, whereas HC presented a normal biometry. However, the MFA resulted in a good separation of the four groups, discriminating the effects of each period of exposure. HD during gestation led to reduced gene expression (nutrient transport and metabolism) and big changes in FA profiles in both tissues with increased membrane linoleic acid, lipid storage, and polyunsaturated-to-saturated FA ratios. Pre-conception exposure had a major effect on fetal biometry and organogenesis in HH, with specific changes in FA profiles (increased MUFAs and decreased LCPUFAs). Conclusion: Embryo origin left traces in end-gestation feto-placental unit; however, maternal diet during gestation played a major role, either negative (HD) or positive (control). Thus, an H embryo developed favorably when transferred to a C recipient (HC) with normal biometry at term, despite disturbed and altered FA profiles.
Published: 2021
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