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1. Chikungunya Virus Infection during Pregnancy, Réunion, France, 2006

Author

Xavier Fritel, Olivier Rollot, Patrick Gérardin, Bernard-Alex Gaüzère, Jacques Bideault, Louis Lagarde, Barbara Dhuime, Eric Orvain, Fabrice Cuillier, Duksha Ramful, Sylvain Sampériz, Marie-Christine Jaffar-Bandjee, Alain Michault, Liliane Cotte, Monique Kaminski, and Alain Fourmaintraux

Subjects
Chikungunya virus, pregnancy, mothers, newborns, infectious disease transmission, alphavirus infections, Medicine, Infectious and parasitic diseases, RC109-216
Abstract

Mother-to-child transmission of chikungunya virus was reported during the 2005–2006 outbreak on Réunion Island, France. To determine the effects of this virus on pregnancy outcomes, we conducted a study of pregnant women in Réunion in 2006. The study population was composed of 1,400 pregnant women (628 uninfected, 658 infected during pregnancy, 27 infected before pregnancy, and 87 infected on unknown dates). We compared pregnancy outcomes for 655 (628 + 27) women not infected during pregnancy with 658 who were infected during pregnancy. Infection occurred during the first trimester for 15% of the infected women, the second for 59%, and the third for 26%. Only hospital admission during pregnancy differed between infected and uninfected women (40% vs. 29%). Other outcomes (cesarean deliveries, obstetric hemorrhaging, preterm births, stillbirths after 22 weeks, birthweight, congenital malformations, and newborn admissions) were similar. This virus had no observable effect on pregnancy outcomes.

Published
2010
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2. Neurocognitive outcome of children exposed to perinatal mother-to-child Chikungunya virus infection: the CHIMERE cohort study on Reunion Island.

Author

Patrick Gérardin, Sylvain Sampériz, Duksha Ramful, Brahim Boumahni, Marc Bintner, Jean-Luc Alessandri, Magali Carbonnier, Isabelle Tiran-Rajaoefera, Gilles Beullier, Irénée Boya, Tahir Noormahomed, Jocelyn Okoï, Olivier Rollot, Liliane Cotte, Marie-Christine Jaffar-Bandjee, Alain Michault, François Favier, Monique Kaminski, Alain Fourmaintraux, and Xavier Fritel

Subjects
Arctic medicine. Tropical medicine, RC955-962, Public aspects of medicine, RA1-1270
Abstract

Little is known about the neurocognitive outcome in children exposed to perinatal mother-to-child Chikungunya virus (p-CHIKV) infection.The CHIMERE ambispective cohort study compared the neurocognitive function of 33 p-CHIKV-infected children (all but one enrolled retrospectively) at around two years of age with 135 uninfected peers (all enrolled prospectively). Psychomotor development was assessed using the revised Brunet-Lezine scale, examiners blinded to infectious status. Development quotients (DQ) with subscores covering movement/posture, coordination, language, sociability skills were calculated. Predictors of global neurodevelopmental delay (GND, DQ ≤ 85), were investigated using multivariate Poisson regression modeling. Neuroradiologic follow-up using magnetic resonance imaging (MRI) scans was proposed for most of the children with severe forms.The mean DQ score was 86.3 (95%CI: 81.0-91.5) in infected children compared to 100.2 (95%CI: 98.0-102.5) in uninfected peers (P

Published
2014
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3. Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

Author

Pierre Bordigoni, Danielle Canioni, Michèle Milili, Nathalie Lambert, Claire Galambrun, Marie Ouachée-Chardin, Filomeen Haerynck, Françoise Le Deist, Despina Moshous, Christelle Lenoir, Stephanie Rigaud, Lionel Galicier, Fabien Touzot, Capucine Picard, Mohamed Hamidou, Hirokazu Kanegane, Ester Mejstrikova, Helen Chapel, Eduardo López-Granados, Stéphane Blanche, Alain Dabadie, Jana Pachlopnik Schmid, Pierre-Simon Rohrlich, Fabian Hauck, Geneviève de Saint Basile, Claudin Schiff, Jean-Louis Stephan, Alain Fischer, Isabelle Pellier, Nizar Mahlaoui, Sylvain Latour, Alain Fourmaintraux, Vincent Barlogis, IFR Necker-Enfants Malades (IRNEM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d'anatomie pathologique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Graduate School of Medicine, University of Toyama, Department of pediatrics, University of Oxford [Oxford], Teaching Hospital Motol and 2nd Medical School, Charles University, Department of Pediatric Hematology and Oncology, Centre de Recherche en Cancérologie Nantes-Angers (CRCNA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Hôtel-Dieu de Nantes-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Laennec-Centre National de la Recherche Scientifique (CNRS)-Faculté de Médecine d'Angers-Centre hospitalier universitaire de Nantes (CHU Nantes), Service d'immuno-hématologie pédiatrique [CHU Necker], Service d'Hématologie pédiatrique, Hôpital de la Timone, Marseille, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service d'hématologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Groupe Hospitalier Sud Réunion (GHSR), Centre Hospitalier Universitaire [Rennes], Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Department of Paediatric Pulmonology, Ghent University Hospital, Service d'hématologie et immunologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Département de pédiatrie, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Hôpital Saint-Jacques, CHU Saint-Etienne, Centre d'Immunologie de Marseille - Luminy (CIML), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique Humaine des Maladies Infectieuses (Inserm U980), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre d'étude des Déficits Immunitaires, Assistance Publique-Hôpitaux de Paris, Service d'Immunologie et d'Hématologie Pédiatrique, Chaire Médecine expérimentale (A. Fischer), Collège de France (CdF (institution)), University of Oxford, Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Collège de France - Chaire Médecine expérimentale (A. Fischer), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Centre de Recherche en Cancérologie / Nantes - Angers (CRCNA), Centre hospitalier universitaire de Nantes (CHU Nantes)-Faculté de Médecine d'Angers-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Centre National de la Recherche Scientifique (CNRS)-Hôpital Laennec-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôtel-Dieu de Nantes, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon)-Hôpital Saint-Jacques, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), IFR Necker-Enfants Malades ( IRNEM ), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP), Centre de Recherche en Cancérologie / Nantes - Angers ( CRCNA ), CHU Angers-Hôtel-Dieu de Nantes-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Hôpital Laennec-Centre National de la Recherche Scientifique ( CNRS ) -Faculté de Médecine d'Angers-Centre hospitalier universitaire de Nantes ( CHU Nantes ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Groupe Hospitalier Sud Réunion ( GHSR ), Centre de Référence Déficits Immunitaires Héréditaires ( CEREDIH ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 ( UPD7 ), Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ) -Hôpital Saint-Jacques, Centre d'Immunologie de Marseille - Luminy ( CIML ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Aix Marseille Université ( AMU ) -Centre National de la Recherche Scientifique ( CNRS ), Génétique Humaine des Maladies Infectieuses ( Inserm U980 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), and Assistance publique - Hôpitaux de Paris (AP-HP)

Subjects
Male, MESH : Retrospective Studies, MESH: X-Linked Inhibitor of Apoptosis Protein, MESH : Aged, MESH : Child, Preschool, Biochemistry, Cohort Studies, Immunoenzyme Techniques, Hypogammaglobulinemia, MESH: Lymphoproliferative Disorders, 0302 clinical medicine, MESH : Child, MESH: Child, hemic and lymphatic diseases, [ SDV.IMM ] Life Sciences [q-bio]/Immunology, MESH : Female, XIAP Deficiency, Signaling Lymphocytic Activation Molecule Associated Protein, X-Linked Lymphoproliferative Syndrome, Child, MESH: Cohort Studies, MESH: Aged, 0303 health sciences, MESH: Middle Aged, MESH : Lymphoproliferative Disorders, Intracellular Signaling Peptides and Proteins, MESH : Infant, Hematology, MESH : Adult, Middle Aged, MESH : Survival Rate, MESH: Infant, 3. Good health, Survival Rate, MESH : Phenotype, Phenotype, MESH: Young Adult, Child, Preschool, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, MESH : Mutation, Adult, medicine.medical_specialty, MESH: Mutation, Adolescent, MESH: Survival Rate, MESH : Male, Immunology, MESH : Young Adult, MESH : Cohort Studies, X-Linked Inhibitor of Apoptosis Protein, Biology, MESH: Phenotype, Virus, Young Adult, 03 medical and health sciences, MESH : Intracellular Signaling Peptides and Proteins, MESH : Immunoenzyme Techniques, MESH : Adolescent, MESH: Intracellular Signaling Peptides and Proteins, medicine, Humans, MESH : Middle Aged, MESH: Immunoenzyme Techniques, Aged, Retrospective Studies, 030304 developmental biology, MESH: Adolescent, Hemophagocytic lymphohistiocytosis, Cytopenia, MESH: Humans, MESH : Humans, MESH: Child, Preschool, Infant, X-linked lymphoproliferative disease, MESH: Adult, MESH: Retrospective Studies, Cell Biology, medicine.disease, Lymphoproliferative Disorders, MESH: Male, MESH : X-Linked Inhibitor of Apoptosis Protein, Mutation, Histopathology, MESH: Female, 030215 immunology
Abstract

X-linked lymphoproliferative syndromes (XLP) are primary immunodeficiencies characterized by a particular vulnerability toward Epstein-Barr virus infection, frequently resulting in hemophagocytic lymphohistiocytosis (HLH). XLP type 1 (XLP-1) is caused by mutations in the gene SH2D1A (also named SAP), whereas mutations in the gene XIAP underlie XLP type 2 (XLP-2). Here, a comparison of the clinical phenotypes associated with XLP-1 and XLP-2 was performed in cohorts of 33 and 30 patients, respectively. HLH (XLP-1, 55%; XLP-2, 76%) and hypogammaglobulinemia (XLP-1, 67%; XLP-2, 33%) occurred in both groups. Epstein-Barr virus infection in XLP-1 and XLP-2 was the common trigger of HLH (XLP-1, 92%; XLP-2, 83%). Survival rates and mean ages at the first HLH episode did not differ for both groups, but HLH was more severe with lethal outcome in XLP-1 (XLP-1, 61%; XLP-2, 23%). Although only XLP-1 patients developed lymphomas (30%), XLP-2 patients (17%) had chronic hemorrhagic colitis as documented by histopathology. Recurrent splenomegaly often associated with cytopenia and fever was preferentially observed in XLP-2 (XLP-1, 7%; XLP-2, 87%) and probably represents minimal forms of HLH as documented by histopathology. This first phenotypic comparison of XLP subtypes should help to improve the diagnosis and the care of patients with XLP conditions.

Published
2011
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4. Transmission verticale materno-fœtale du virus chikungunya

Author

Patrick Gérardin, Pierre-Yves Robillard, G. Barau, Sam Djémili, Ghassan Choker, Brahim Boumahni, Alain Fourmaintraux, Isabelle Schuffenecker, Madeleine Roge-Wolter, Alain Michault, and Magali Carbonnier

Subjects
Gynecology, medicine.medical_specialty, business.industry, medicine, General Medicine, business
Abstract

Resume Introduction Une transmission materno-fœtale du virus chikungunya a ete observee au decours de l’epidemie survenue dans le sud de l’ile de la Reunion (Ocean Indien) des mars 2005 puis dans le nord de l’ile a la fin de l’annee 2005. Les premiers cas de femmes enceintes atteintes de cette arbovirose ont ete detectes des juin 2005. Observations De juin 2005 au 31 janvier 2006, 84 femmes enceintes ont souffert du chikungunya pendant leur grossesse. Dans 88% des cas (n = 74), les nouveau-nes ont ete asymptomatiques a la naissance ; toutes ces femmes avaient fait leur episode pathologique a distance de l’accouchement. Dix nouveau-nes ont eu des atteintes severes (4 encephalites, 3 coagulations intravasculaires disseminees) necessitant un sejour prolonge en neonatologie (dont 6 enfants en reanimation neonatale avec necessite de ventilation assistee). Il n’y a pas eu de deces neonatal dans cette serie, mais une complication grave d’hemorragie cerebrale par thrombopenie severe chez un des nouveaux nes. Tous ces cas pathologiques ont ete documentes par serologie a IgM et/ou PCR specifiques aussi bien chez les meres que chez les nouveau-nes. A noter que dans tous les cas pathologiques, les meres ont fait leur viremie (et hyperthermie) en per-partum.

Published
2006
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5. Transmission materno-fœtale précoce du virus Chikungunya

Author

Alain Fourmaintraux, Edouard Kauffmann, Alain Michault, Yasmina Touret, Isabelle Schuffenecker, Yann Lenglet, Hanitra Randrianaivo, and G. Barau

Subjects
Fetus, Pregnancy, Amniotic fluid, medicine.diagnostic_test, business.industry, virus diseases, Gestational age, General Medicine, medicine.disease_cause, medicine.disease, Virology, Amniocentesis, Medicine, Rupture of membranes, Viral disease, Chikungunya, business
Abstract

Summary Introduction Since the onset of the Chikungunya outbreak in Reunion Island, vertical maternal-fetal transmission of the virus has been observed in newborns, but no such transmission has been demonstrated early during pregnancy. We report here the first three cases of maternal-fetal transmission of the Chikungunya virus (CHIKV) before 16 weeks' gestational age. Cases Maternal infections occurred at terms of 12 weeks and 4 days, 15 weeks and 5 days, and 15 weeks and were confirmed by positive findings for specific anti-CHIKV IgM. Fetal deaths were subsequently observed, and at that point, CHIKV RT-PCR was negative for all three maternal blood samples. Amniocentesis preceded rupture of membranes in all three cases. RT-PCR showed viral genome in the amniotic fluid of the three fetuses, in the placentas of two, and in the brains of two. Autopsy found no malformations, and all other bacterial and viral test results were negative. Discussion These findings demonstrate early maternal-fetal transmission of CHIKV, which is suspected to be directly linked to the fetal deaths. This vertical transmission, probably abortifacient, should be considered in the light of human and animal responses to other arboviruses.

Published
2006
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6. Neurocognitive Outcome of Children Exposed to Perinatal Mother-to-Child Chikungunya Virus Infection: The CHIMERE Cohort Study on Reunion Island

Author

Gilles Beullier, Liliane Cotte, Jean-Luc Alessandri, Brahim Boumahni, Isabelle Tiran-Rajaoefera, Alain Fourmaintraux, Irénée Boya, Olivier Rollot, Patrick Gérardin, Magali Carbonnier, Monique Kaminski, Sylvain Samperiz, Marie-Christine Jaffar-Bandjee, Xavier Fritel, Duksha Ramful, Tahir Noormahomed, Alain Michault, François Favier, Jocelyn Okoï, Marc Bintner, Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), CIC régional épidémiologie clinique/essais cliniques - Ile de la Réunion (CIC-EC), Institut National de la Santé et de la Recherche Médicale (INSERM), Recherche Epidémiologique en Santé Périnatale et Santé des Femmes et des Enfants (UMR_S 953), Université Paris-Sud - Paris 11 (UP11)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Immunopathology and Infection Research Grouping (IRG), Université de La Réunion (UR)-Centre hospitalier Félix-Guyon [Saint-Denis, La Réunion], Centre Hospitalier Gabriel Martin, Centre hospitalier de l'Est Réunion, Saint-Benoît, Clinique Sainte Clotilde, CAMSP La Rose, Clinique Durieux, Le Tampon, La Réunion, Centre hospitalier universitaire de Poitiers (CHU Poitiers), INSERM CIC 0802 (INSERM - CHU de Poitiers), Université de Poitiers-Centre hospitalier universitaire de Poitiers (CHU Poitiers)-Institut National de la Santé et de la Recherche Médicale (INSERM), HAL UPMC, Gestionnaire, Recherche Epidémiologique en Santé Périnatale et Santé des Femmes et des Enfants, Institut National de la Santé et de la Recherche Médicale (INSERM) - Assistance publique - Hôpitaux de Paris (AP-HP) - CHU Tenon [APHP] - CHU Cochin [APHP] - Université Paris-Sud - Paris 11 (UP11) - Université Paris Descartes - Paris 5 (UPD5) - Université Pierre et Marie Curie - Paris 6 (UPMC), Service de gynécologie et obstétrique [Poitiers], Université de Poitiers - CHU de Poitiers, CHU de Poitiers, Groupe de Recherche en Immunopathologies et maladies infectueuses (GRI), Université de la Réunion - Centre hospitalier Régional Site Félix Guyon, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris-Sud - Paris 11 (UP11), Centre Hospitalier Universitaire de La Réunion ( CHU La Réunion ), CIC régional épidémiologie clinique/essais cliniques - Ile de la Réunion ( CIC-EC ), Institut National de la Santé et de la Recherche Médicale ( INSERM ), Recherche Epidémiologique en Santé Périnatale et Santé des Femmes et des Enfants ( UMR_S 953 ), Université Paris-Sud - Paris 11 ( UP11 ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Immunopathology and Infection Research Grouping ( IRG ), Université de la Réunion ( UR ) -Centre hospitalier Régional Site Félix Guyon, Centre Hospitalier Gabriel-Martin, CH Gabriel-Martin, Clinique Sainte-Clotilde, Centre hospitalier universitaire de Poitiers ( CHU Poitiers ), and INSERM CIC 0802 ( INSERM CIC 0802, CHU de Poitiers )

Subjects
Pediatrics, Viral Diseases, Epidemiology, Developmental Disabilities, [ SDV.MHEP.PED ] Life Sciences [q-bio]/Human health and pathology/Pediatrics, Developmental and Pediatric Neurology, Rate ratio, Diagnostic Radiology, [ SDV.NEU.SC ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, Child Development, Infectious Diseases of the Nervous System, Pregnancy, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Emerging Viral Diseases, Medicine and Health Sciences, Public and Occupational Health, Pregnancy Complications, Infectious, Pediatric Epidemiology, Cognitive Neurology, lcsh:Public aspects of medicine, Radiology and Imaging, Child Health, Gestational age, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, Magnetic Resonance Imaging, 3. Good health, [SDV] Life Sciences [q-bio], [ SDV.MHEP.MI ] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Infectious Diseases, Neurology, Arboviral Infections, Child, Preschool, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Female, Behavioral and Social Aspects of Health, Chikungunya virus, Cohort study, Research Article, Neglected Tropical Diseases, medicine.medical_specialty, Pediatric Critical Care, lcsh:Arctic medicine. Tropical medicine, lcsh:RC955-962, Cognitive Neuroscience, Neuroimaging, Microbiology, Infectious Disease Epidemiology, Cerebral palsy, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, Developmental Neuroscience, Diagnostic Medicine, Virology, medicine, Humans, Retrospective Studies, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, Neonatal encephalopathy, business.industry, Public Health, Environmental and Occupational Health, Infant, Newborn, Biology and Life Sciences, Infant, Retrospective cohort study, lcsh:RA1-1270, medicine.disease, Tropical Diseases, Infectious Disease Transmission, Vertical, Health Care, Small for gestational age, Chikungunya Fever, Neonatology, business, Neurocognitive, Reunion, Viral Transmission and Infection, [SDV.NEU.SC] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, Neuroscience
Abstract

Background Little is known about the neurocognitive outcome in children exposed to perinatal mother-to-child Chikungunya virus (p-CHIKV) infection. Methods The CHIMERE ambispective cohort study compared the neurocognitive function of 33 p-CHIKV-infected children (all but one enrolled retrospectively) at around two years of age with 135 uninfected peers (all enrolled prospectively). Psychomotor development was assessed using the revised Brunet-Lezine scale, examiners blinded to infectious status. Development quotients (DQ) with subscores covering movement/posture, coordination, language, sociability skills were calculated. Predictors of global neurodevelopmental delay (GND, DQ≤85), were investigated using multivariate Poisson regression modeling. Neuroradiologic follow-up using magnetic resonance imaging (MRI) scans was proposed for most of the children with severe forms. Results The mean DQ score was 86.3 (95%CI: 81.0–91.5) in infected children compared to 100.2 (95%CI: 98.0–102.5) in uninfected peers (P, Author Summary Chikungunya virus (CHIKV), an alphaviral infection transmitted by day-biting Aedes mosquitoes, is widespread in Asia and in Africa. Usually, CHIKV causes a self-limiting arthritide, except in debilitated people and in neonates, for whom it can lead to severe disease. Mother-to-child perinatal transmission of CHIKV is a rare event that can occur in the setting of large-scale outbreaks when the risk of maternal viremia at the term of pregnancy becomes non-negligible. In that event, CHIKV can give rise to neonatal infection with a probability of 50%, and prostration and encephalopathy, the two leading clinical pictures in the neonate, represent a continuum in the gradation of an undiscovered central nervous system involvement. We have followed-up 33 children infected at birth between June 2005 and April 2006 on the island of La Réunion, Indian Ocean, and 135 uninfected controls, for assessing their neurodevelopmental performance around the age of two years. Fifty-one percent of infected children had a global neurodevelopmental delay compared to 15% of uninfected peers. Multivariate analysis and neuroradiology suggest without irrefutable evidence a causal relationship between CHIKV infection and neurocognitive outcomes. Our findings suggest that CHIKV infection, acquired in the perinatal period, can cause severe disease with lifelong expected disability.

Published
2014
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7. Congenital heart defects in La Réunion Island: a 6-year survey within a EUROCAT-affiliated congenital anomalies registry

Author

Karim Jamal-Bey, Edouard Kauffmann, Françoise Wuillai, Alain Fourmaintraux, Dominique Caillet, Pierre-Yves Robillard, Fabrice Cuillier, Patrick Gérardin, Yasmina Touret, Claire Bernede-Bauduin, Hélène Bourdial, Jean-Luc Alessandri, Brahim Boumahni, Abdelhafid Edmar, Hanitra Randrianaivo, Annick Laffitte, CHR La réunion, Centre d'Études Périnatales de l'Océan Indien (CEPOI), Université de La Réunion (UR)-Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Service de gynécologie-obstétrique [La réunion], Groupe Hospitalier Sud-CHR La réunion, Groupe Hospitalier Sud Réunion (GHSR), Service de Réanimation Néonatale et Pédiatrique, CHD Félix Guyon, CIC régional épidémiologie clinique/essais cliniques - Ile de la Réunion (CIC-EC), Institut National de la Santé et de la Recherche Médicale (INSERM), Recherche Epidémiologique en Santé Périnatale et Santé des Femmes et des Enfants (UMR_S 953), Université Paris-Sud - Paris 11 (UP11)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de réanimation néonatologique et pédiatrique [La Réunion], Service de médecine foetale et foetopathologie, Centre d'Études Périnatales de l'Océan Indien ( CEPOI ), Université de la Réunion ( UR ) -Centre Hospitalier Universitaire de La Réunion ( CHU La Réunion ), Groupe Hospitalier Sud Réunion ( GHSR ), Centre d'Investigation Clinique Regional Epidemiologie Clinique/essais Cliniques - Ile de la Reunion, Institut National de la Santé et de la Recherche Médicale ( INSERM ), Recherche Epidémiologique en Santé Périnatale et Santé des Femmes et des Enfants ( UMR_S 953 ), and Université Paris-Sud - Paris 11 ( UP11 ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM )

Subjects
Heart Defects, Congenital, Pediatrics, medicine.medical_specialty, Down syndrome, Pregnancy Complications, Cardiovascular, Coarctation of the aorta, [ SDV.MHEP.PED ] Life Sciences [q-bio]/Human health and pathology/Pediatrics, 030204 cardiovascular system & hematology, Cardiovascular, Atrial septal defects, 03 medical and health sciences, Congenital, 0302 clinical medicine, Pregnancy, medicine, Prevalence, Humans, Atrioventricular Septal Defect, Registries, Fetal Death, Perinatal Mortality, Heart Defects, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, 030219 obstetrics & reproductive medicine, business.industry, Infant, Newborn, Infant, General Medicine, medicine.disease, Newborn, 3. Good health, Pregnancy Complications, medicine.anatomical_structure, Ventricle, Pediatrics, Perinatology and Child Health, Pulmonary valve stenosis, Gestation, Female, Cardiology and Cardiovascular Medicine, business, Live Birth, Reunion
Abstract

ObjectivesThis study compares the prevalence and perinatal mortality of congenital heart defects on La Réunion with European (EUROCAT) standards.Methods and resultsData were extracted from a EUROCAT-affiliated congenital malformations registry, covering 88,025 births during the period 2002–2007, on the whole island territory. A total of 512 congenital heart defects were registered, including 424 live births, 18 foetal deaths from 16 weeks of gestation, and 70 terminations of pregnancy. The total prevalence of congenital heart defects was 5.8 per 1000 births and live birth prevalence was 4.8 per 1000. The total prevalence of non-chromosomal congenital heart defects was 5.1 per 1000 births, of which 3% were perinatal deaths, 33.3% prenatally diagnosed, and 11.6% termination of pregnancy. Severe non-chromosomal congenital heart defects – excluding ventricular septal defects, atrial septal defects, and pulmonary valve stenosis – occurred in 2.1 per 1000 births, of which 10.3% were perinatal deaths, 59.1% prenatally diagnosed, and 24.3% termination of pregnancy. Of the severe congenital heart defects, the rates of single ventricle (0.20‰), Ebstein anomaly (0.11‰), common arterial trunk (0.25‰), and atrioventricular septal defect (0.62‰) exceeded averages found in Europe, although coarctation of the aorta was infrequent. Conversely, rates of ventricular septal defects, atrial septal defects, and pulmonary valve stenosis were inferior to European standards. Slightly less than half of the congenital heart defects of chromosomal origin were associated with Down syndrome.ConclusionIn La Réunion, the total prevalence of congenital heart defects is far inferior to that found in Europe. The difference can be attributable to lower prevalences of mild congenital heart defects.

Published
2012
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8. Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

Author

Michael Fähling, Josué Feingold, Edgar Benko, Marc Bintner, Diana Rodriguez, Simonetta Bandiera, Sylvain Hanein, Patrick Munier, Pascale Krejbich-Trotot, Stanislas Lyonnet, Jeanine Vellayoudom, Arnold Munnich, Eric Westhof, Nathalie Boddaert, Alexandra Henrion-Caude, Muriel Girard, Michel Renouil, Magali Naville, Jean-Jacques Hoarau, Emmanuelle Génin, Isabelle Desguerre, Pascale de Lonlay, François Cartault, Alain Fourmaintraux, Service de génétique, Centre hospitalier Felix Guyon (Saint-Denis), Service de Neuropédiatrie, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Groupe de Recherche en Immunopathologies et maladies infectueuses ( GRI ), Université de la Réunion ( UR ) -Centre hospitalier Régional Site Félix Guyon, Centre Hospitalier Universitaire de La Réunion ( CHU La Réunion ), Cités, Territoires, Environnement et Sociétés ( CITERES ), Université de Tours-Centre National de la Recherche Scientifique ( CNRS ), Variabilité Génétique et Maladies Humaines, Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Groupe Hospitalier Sud Réunion ( GHSR ), CHR La réunion, Institut de génétique et microbiologie [Orsay] ( IGM ), Université Paris-Sud - Paris 11 ( UP11 ) -Centre National de la Recherche Scientifique ( CNRS ), Centre de Référence Maladies Rares ' malformations et maladies congénitales du cervelet ', Hospices Civils de Lyon ( HCL ) -CHU Trousseau [APHP]-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Physiopathologie, conséquences fonctionnelles et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 ( UPD7 ) -IFR2-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service de neuropédiatrie [Trousseau], Service de Génétique Médicale [CHU Necker], Architecture et Réactivité de l'ARN ( ARN ), Institut de biologie moléculaire et cellulaire ( IBMC ), Université de Strasbourg ( UNISTRA ) -Centre National de la Recherche Scientifique ( CNRS ) -Université de Strasbourg ( UNISTRA ) -Centre National de la Recherche Scientifique ( CNRS ) -Centre National de la Recherche Scientifique ( CNRS ), Centre hospitalier Félix-Guyon [Saint-Denis, La Réunion], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Groupe de Recherche en Immunopathologies et maladies infectueuses (GRI), Université de La Réunion (UR)-Centre hospitalier Félix-Guyon [Saint-Denis, La Réunion], Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Cités, Territoires, Environnement et Sociétés (CITERES), Université de Tours (UT)-Centre National de la Recherche Scientifique (CNRS), Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Groupe Hospitalier Sud Réunion (GHSR), Institut de génétique et microbiologie [Orsay] (IGM), Université Paris-Sud - Paris 11 (UP11)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau [APHP], Université Paris Diderot - Paris 7 (UPD7)-IFR2-Institut National de la Santé et de la Recherche Médicale (INSERM), Architecture et Réactivité de l'ARN (ARN), Institut de biologie moléculaire et cellulaire (IBMC), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université de Tours (UT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Centre National de la Recherche Scientifique (CNRS)-Université de Tours

Subjects
RNA, Untranslated, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [ SDV.MHEP.PED ] Life Sciences [q-bio]/Human health and pathology/Pediatrics, Retrotransposon, 0302 clinical medicine, Chromosome Segregation, [ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human genetics, Indian Ocean, Conserved Sequence, Genetics, 0303 health sciences, Brain Diseases, Multidisciplinary, Geography, Nucleotides, Chromosome Mapping, Biological Sciences, Non-coding RNA, Magnetic Resonance Imaging, Anorexia, Phenotype, [ SDV.NEU.NB ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Disease Progression, medulla oblongata, Chromosomes, Human, Pair 8, Primates, Retroelements, pediatrics, Molecular Sequence Data, Genes, Recessive, Biology, 03 medical and health sciences, Young Adult, genetic disease, Animals, Humans, long noncoding RNA, Gene, 030304 developmental biology, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, Base Sequence, Point mutation, Intron, RNA, Infant, long interspersed element 1, Noncoding DNA, Introns, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Genetic Loci, Mutation, Nucleic Acid Conformation, Human genome, 030217 neurology & neurosurgery
Abstract

International audience; The human genome is densely populated with transposons and transposon-like repetitive elements. Although the impact of these transposons and elements on human genome evolution is recognized, the significance of subtle variations in their sequence remains mostly unexplored. Here we report homozygosity mapping of an infantile neurodegenerative disease locus in a genetic isolate. Complete DNA sequencing of the 400-kb linkage locus revealed a point mutation in a primate-specific retrotransposon that was transcribed as part of a unique noncoding RNA, which was expressed in the brain. In vitro knockdown of this RNA increased neuronal apoptosis, consistent with the inappropriate dosage of this RNA in vivo and with the phenotype. Moreover, structural analysis of the sequence revealed a small RNA-like hairpin that was consistent with the putative gain of a functional site when mutated. We show here that a mutation in a unique transposable element-containing RNA is associated with lethal encephalopathy, and we suggest that RNAs that harbor evolutionarily recent repetitive elements may play important roles in human brain development.

Published
2012
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9. Chikungunya Virus Infection during Pregnancy, Réunion, France, 2006

Author

Patrick Gérardin, Xavier Fritel, Marie-Christine Jaffar-Bandjee, Monique Kaminski, Jacques Bideault, Louis Lagarde, Olivier Rollot, Eric Orvain, Fabrice Cuillier, Sylvain Samperiz, Liliane Cotte, Barbara Dhuime, Alain Michault, Bernard-Alex Gaüzère, Duksha Ramful, Alain Fourmaintraux, Service de gynécologie et obstétrique [Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), CIC régional épidémiologie clinique/essais cliniques - Ile de la Réunion (CIC-EC), Institut National de la Santé et de la Recherche Médicale (INSERM), Réanimation médicale néonatale et pédiatrique, CHR la Reunion site Sud, Groupe de Recherche en Immunopathologies et maladies infectueuses (GRI), Université de La Réunion (UR)-Centre hospitalier Félix-Guyon [Saint-Denis, La Réunion], Centre Hospitalier Intercommunal Saint Benoît- Saint André, CHI de Saint-Benoit-Saint-André, Centre Hospitalier Gabriel Martin, Clinique Sainte Clotilde, Laboratoire de Bactériologie-Parasitologie-Virologie-Hygiène, Groupe Hospitalier Sud Réunion (GHSR), Recherches épidémiologiques en santé périnatale et santé des femmes, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Gabriel-Martin, CH Gabriel-Martin, and Clinique Sainte-Clotilde

Subjects
newborns, Epidemiology, viruses, Infectious Disease Transmission, [SDV]Life Sciences [q-bio], lcsh:Medicine, Antibodies, Viral, medicine.disease_cause, Disease Outbreaks, 0302 clinical medicine, Pregnancy, Vertical, 030212 general & internal medicine, Chikungunya, Viral, Prospective Studies, Pregnancy Complications, Infectious, Réunion, Obstetrics, Transmission (medicine), Reverse Transcriptase Polymerase Chain Reaction, Infectious, Pregnancy Outcome, 3. Good health, Infectious Diseases, Population study, Female, France, Pregnancy Trimesters, Chikungunya virus, Microbiology (medical), medicine.medical_specialty, 030231 tropical medicine, Antibodies, lcsh:Infectious and parasitic diseases, 03 medical and health sciences, medicine, Humans, lcsh:RC109-216, Alphavirus infection, business.industry, Alphavirus Infections, Research, lcsh:R, Infant, Newborn, Outbreak, Infant, medicine.disease, Newborn, Infectious Disease Transmission, Vertical, Pregnancy Complications, mothers, 030221 ophthalmology & optometry, business
Abstract

Except for prenatal hospital admissions for those infected, this virus had no effect on outcomes., Mother-to-child transmission of chikungunya virus was reported during the 2005–2006 outbreak on Réunion Island, France. To determine the effects of this virus on pregnancy outcomes, we conducted a study of pregnant women in Réunion in 2006. The study population was composed of 1,400 pregnant women (628 uninfected, 658 infected during pregnancy, 27 infected before pregnancy, and 87 infected on unknown dates). We compared pregnancy outcomes for 655 (628 + 27) women not infected during pregnancy with 658 who were infected during pregnancy. Infection occurred during the first trimester for 15% of the infected women, the second for 59%, and the third for 26%. Only hospital admission during pregnancy differed between infected and uninfected women (40% vs. 29%). Other outcomes (cesarean deliveries, obstetric hemorrhaging, preterm births, stillbirths after 22 weeks, birthweight, congenital malformations, and newborn admissions) were similar. This virus had no observable effect on pregnancy outcomes.

Published
2010
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10. Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome

Author

Michel Renouil, Cecile Dalloz, Renier Vélez-Cruz, Vincent Laugel, Alain Sarasin, Alain Fourmaintraux, Hélène Dollfus, Isabelle Desguerre, Valérie Cormier-Daire, Anne Stary, Jean-Marc Egly, Etude des relations instabilité génétique et cancer ( ERIGC ), Centre National de la Recherche Scientifique ( CNRS ), Handicaps génétiques de l'enfant ( Inserm U393 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut de génétique et biologie moléculaire et cellulaire ( IGBMC ), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Génomes et cancer ( GC (FRE2939) ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut Gustave Roussy ( IGR ) -Centre National de la Recherche Scientifique ( CNRS ), Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Etude des relations instabilité génétique et cancer (ERIGC), Centre National de la Recherche Scientifique (CNRS), Handicaps génétiques de l'enfant (Inserm U393), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génomes et cancer (GC (FRE2939)), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), and Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Microcephaly, [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT], DNA repair, Nonsense mutation, Biology, Polymerase Chain Reaction, Cockayne syndrome, 03 medical and health sciences, Exon, 0302 clinical medicine, Genetics, medicine, Humans, RNA, Messenger, [ SDV.OT ] Life Sciences [q-bio]/Other [q-bio.OT], Cockayne Syndrome, Poly-ADP-Ribose Binding Proteins, Gene, Genetics (clinical), Sequence Deletion, 030304 developmental biology, 0303 health sciences, DNA Helicases, Infant, Newborn, Brain, Infant, medicine.disease, Magnetic Resonance Imaging, 3. Good health, Complementation, genomic DNA, DNA Repair Enzymes, Female, 030217 neurology & neurosurgery, Microsatellite Repeats
Abstract

Cockayne syndrome is an autosomal recessive neurodegenerative disorder characterized by a specific defect in the repair of UV-induced DNA lesions. Most cases of Cockayne syndrome are caused by mutations in the CSB gene but the pathophysiological mechanisms are poorly understood. We report the clinical and molecular data of two severely affected Cockayne patients with undetectable CSB protein and mRNA. Both patients showed severe growth failure, microcephaly, mental retardation, congenital cataracts, retinal pigmentary degeneration, photosensitivity and died at the ages of 6 and 8 years. UV irradiation assays demonstrated that both patients had the classical DNA repair defect. Genomic DNA sequencing of the CSB gene showed a homozygous deletion involving non-coding exon 1 and upstream regulatory sequences, but none of the coding exons. Functional complementation using a wild-type CSB expression plasmid fully corrected the DNA repair defect in transfected fibroblasts. Horibata et al recently proposed that all type of CSB mutations result in a defect in UV damage repair that is responsible for the photosensitivity observed in the syndrome, but that only truncated CSB polypeptides generated by nonsense mutations have some additional inhibitory functions in transcription or in oxidative damage repair, which are necessary to lead to the other features of the phenotype. Our patients do not fit the proposed paradigm and new hypotheses are required to account for the pathophysiology of Cockayne syndrome, at the crossroads between DNA repair and transcription.

Published
2008
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11. [Early maternal-fetal transmission of the Chikungunya virus]

Author

Yasmina, Touret, Hanitra, Randrianaivo, Alain, Michault, Isabelle, Schuffenecker, Edouard, Kauffmann, Yann, Lenglet, Georges, Barau, and Alain, Fourmaintraux

Subjects
Adult, Alphavirus Infections, Pregnancy, Infant, Newborn, Humans, Female, Pregnancy Complications, Infectious, Chikungunya virus, Fetal Death, Infectious Disease Transmission, Vertical
Abstract

Since the onset of the Chikungunya outbreak in Reunion Island, vertical maternal-fetal transmission of the virus has been observed in newborns, but no such transmission has been demonstrated early during pregnancy. We report here the first three cases of maternal-fetal transmission of the Chikungunya virus (CHIKV) before 16 weeks' gestational age.Maternal infections occurred at terms of 12 weeks and 4 days, 15 weeks and 5 days, and 15 weeks and were confirmed by positive findings for specific anti-CHIKV IgM. Fetal deaths were subsequently observed, and at that point, CHIKV RT-PCR was negative for all three maternal blood samples. Amniocentesis preceded rupture of membranes in all three cases. RT-PCR showed viral genome in the amniotic fluid of the three fetuses, in the placentas of two, and in the brains of two. Autopsy found no malformations, and all other bacterial and viral test results were negative.These findings demonstrate early maternal-fetal transmission of CHIKV, which is suspected to be directly linked to the fetal deaths. This vertical transmission, probably abortifacient, should be considered in the light of human and animal responses to other arboviruses.

Published
2006

12. [Vertical maternal fetal transmission of the chikungunya virus. Ten cases among 84 pregnant women]

Author

Pierre-Yves, Robillard, Brahim, Boumahni, Patrick, Gérardin, Alain, Michault, Alain, Fourmaintraux, Isabelle, Schuffenecker, Magali, Carbonnier, Sam, Djémili, Ghassan, Choker, Madeleine, Roge-Wolter, and Georges, Barau

Subjects
Alphavirus Infections, Meningoencephalitis, Pregnancy, Infant, Newborn, Humans, Female, Disseminated Intravascular Coagulation, Pregnancy Complications, Infectious, Chikungunya virus, Reunion, Infectious Disease Transmission, Vertical
Abstract

In March 2005, an epidemic of chikungunya virus began in the southern portion of Reunion Island (French overseas district in the Indian Ocean) and spread to the northern part of the island at the end of 2005. The Reunion-South Hospital Group observed the first cases of pregnant women infected with the virus in June 2005. We report here for the first time maternal-fetal transmission of this virus.From June 2005 through the end of January 2006, 84 pregnant women had acute chikungunya infections during pregnancy. In 88% of these cases (n=74)--all involving infections relatively distant from delivery--the newborns appeared asymptomatic. Conversely, 10 newborns had severe attacks (4 with meningoencephalitis and 3 with intravascular coagulations) after birth and required prolonged neonatal hospitalization (6 in the neonatal intensive care unit with intubation and assisted ventilation). No infants died, but there was one case of severe intracerebral hemorrhage after severe thrombocytopenia. These cases were confirmed by specific serology testing or PCR or both for mothers and newborns. We note that all severe cases involved women with viremia and fever in the intrapartum period.

Published
2006

13. Case report: a prenatal case of Jarcho-Levin syndrome diagnosed during the first trimester of pregnancy

Author

G. Barau, Edouard Kauffmann, Horatiu Roman, Hanitra Randrianaivo, Marc Bintner, Alain Fourmaintraux, Annick Laffitte, and Hervé Dumas

Subjects
Adult, medicine.medical_specialty, Autopsy, Ribs, Abortion, Ultrasonography, Prenatal, Pregnancy, medicine, Humans, Medical history, Abnormalities, Multiple, Spinal Dysraphism, Genetics (clinical), Bone Diseases, Developmental, business.industry, Obstetrics, Spina bifida, Obstetrics and Gynecology, Syndrome, medicine.disease, Spondylocostal dysostosis, Spiral computed tomography, Surgery, Pregnancy Trimester, First, Gestation, Female, Kidney Diseases, business, Abortion, Eugenic, Neck
Abstract

The Jarcho-Levin syndrome is a specific form of spondylocostal/spondylothoracic dysostosis. There have been various classifications of this syndrome. We present the case of a severe prenatal Jarcho-Levin syndrome, diagnosed by ultrasound examination during the first trimester of pregnancy in a family with no previous medical history of an affected child. X-ray exploration, high-resolution spiral computed tomography and autopsy confirmed the diagnosis.

Published
2003

15. Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient

Author

F.G. Ferraz, Alain Fourmaintraux, Nicole Philip, Rima Slim, Stéphane Blanchard, Françoise Denoyelle, Valérie Drouin-Garraud, Didier Lacombe, Jean-Edmond Toublanc, Jean-Louis Alessandri, Christine Petit, Elisa Calzolari, and Sandrine Marlin

Subjects
Male, Hearing Loss, Sensorineural, Biology, Translocation, Genetic, Frameshift mutation, Anus, Imperforate, Exon, Chromosome 16, medicine, SALL1, Genetics, Townes–Brocks syndrome, Animals, Humans, Abnormalities, Multiple, Ear, External, Frameshift Mutation, Genetics (clinical), DNA Primers, Base Sequence, Chromosome Mapping, Syndrome, medicine.disease, Penetrance, Pedigree, Position effect, Thumb, Codon, Nonsense, Mutation, Female, Haploinsufficiency, Chromosomes, Human, Pair 16, Transcription Factors
Abstract

Townes-Brocks syndrome (TBS) is an autosomal dominant developmental disorder characterized by anal and thumb malformations and by ear anomalies that can affect the three compartments and usually lead to hearing loss. The gene underlying TBS, SALL1, is a human homolog of the Drosophila spalt gene which encodes a transcription factor. A search for SALL1 mutations undertaken in 11 unrelated affected individuals (five familial and six sporadic cases) led to the detection of mutations in nine of them. One nonsense and six different novel frameshift mutations, all located in the second exon, were identified. Together with the previously reported mutations [Kohlhase et al., 1999], they establish that TBS results from haploinsufficiency. The finding of de novo mutations in the sporadic cases is consistent with the proposed complete penetrance of the disease. Moreover, the occurrence of the same 826C>T transition in a CG dimer, in three sporadic cases from the present series and three sporadic cases from the other series [Kohlhase et al., 1999] (i.e., six of the eight mutations identified in sporadic cases), reveals the existence of a mutation hotspot. Six different SALL1 polymorphisms were identified in the course of the present study, three of which are clustered in a particular region of the gene that encodes a stretch of serine residues. Finally, the chromosome 16 breakpoint of a t(5;16)(p15.3;q12.1) translocation carried by a TBS-affected individual was mapped at least 180 kb telomeric to SALL1, thus indicating that a position effect underlies the disease in this individual.

Published
1999
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