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7 results on '"Hopital port Royal"'

1. Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families

Author

Alexandre Rouen, Eli Rogers, Véronique Kerlan, Brigitte Delemer, Sophie Catteau-Jonard, Yves Reznik, Anne Gompel, Isabelle Cedrin, Anne-Marie Guedj, Virginie Grouthier, Thierry Brue, Catherine Pienkowski, Anne Bachelot, Sandra Chantot-Bastaraud, Alexandra Rousseau, Tabassome Simon, Esther Kott, Jean-Pierre Siffroi, Philippe Touraine, Sophie Christin-Maitre, Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], 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 Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Reims (CHU Reims), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Hopital port Royal, Partenaires INRAE, Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Marseille Maladies Rares (MarMaRa), Aix Marseille Université (AMU), Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM], CHU Saint-Antoine [AP-HP], and Programme Hospitalier de Recherche Clinique AOM08084, NI07022 FAMIOP

Subjects
premature ovarian insufficiency, Genes in POI, [SDV]Life Sciences [q-bio], Menopause, Premature, Obstetrics and Gynecology, Primary Ovarian Insufficiency, hypergonadotropic hypogonadism, whole exome sequencing, Cohort Studies, Fragile X Mental Retardation Protein, Cross-Sectional Studies, primary amenorrhea, Reproductive Medicine, Exome Sequencing, Humans, Female
Abstract

International audience; Objective: To study the diagnostic yield, including variants in genes yet to be incriminated, of whole exome sequencing (WES) in familial cases of premature ovarian insufficiency (POI). Design: Cross-sectional study. Setting: Endocrinology and reproductive medicine teaching hospital departments. Patients: Familial POI cases were recruited as part of a nationwide multicentric cohort. A total of 36 index cases in 36 different families were studied. Fifty-two relatives were available, including 25 with POI and 27 affected who were nonaffected. Karyotype analysis, FMR1 screening, single nucleotide polymorphism array analysis, and WES were performed in all subjects. Interventions: None. Main Outcome Measures: The primary outcome was a molecular etiology, as diagnosed by karyotype, FMR1 screening, single nucleotide polymorphism array, and WES. Results: A likely molecular etiology (pathogenic or likely pathogenic variant) was identified in 18 of 36 index cases (50% diagnostic yield). In 12 families, we found a pathogenic or likely pathogenic variant in a gene previously incriminated in POI, and in 6 families, we found a pathogenic or likely pathogenic variant in new candidate genes. Most of the variants identified were located in genes involved in cell division and meiosis (n = 11) or DNA repair (n = 4). Conclusions: The genetic etiologic diagnosis in POI allows for genetic familial counseling, anticipated pregnancy planning, and ovarian tissue preservation or oocyte preservation. Identifying new genes may lead to future development of therapeutics in reproduction based on disrupted molecular pathways. Clinical Trial Registration Number: NCT 01177891. ((C) 2021 by American Society for Reproductive Medicine.) El resumen esta disponible en Espanol al final del articulo.

Published
2022
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2. How to assess hemodynamic status in very preterm newborns in the first week of life?

Author

Emmanuel Lopez, I. Guellec, A Rideau, Pierre Kuhn, Géraldine Gascoin, Cyril Flamant, G Escourrou, Pierre Tourneux, L Renesme, E Zana, M O Marcoux, Department of Neonatal Medicine, University Hospital, Hopital port Royal, Partenaires INRAE, CHU Toulouse [Toulouse], Physiopathologie des Adaptations Nutritionnelles (PhAN), Université de Nantes (UN)-Institut National de la Recherche Agronomique (INRA), and Centre hospitalier universitaire de Nantes (CHU Nantes)

Subjects
medicine.medical_specialty, Pediatrics, Critical Illness, Hemodynamics, Microcirculation, 03 medical and health sciences, Atrial Pressure, 0302 clinical medicine, Heart Rate, 030225 pediatrics, Internal medicine, medicine, Humans, Lactic Acid, 030212 general & internal medicine, Neonatology, Cardiac Output, Monitoring, Physiologic, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, Spectroscopy, Near-Infrared, medicine.diagnostic_test, business.industry, Infant, Newborn, Obstetrics and Gynecology, Gestational age, Capillary refill, 3. Good health, Very preterm, Blood pressure, Echocardiography, Cerebrovascular Circulation, Pediatrics, Perinatology and Child Health, Cardiology, business, Perfusion, Infant, Premature
Abstract

International audience; BACKGROUND: Assessing hemodynamic status in preterm newborns is an essential task, as many studies have shown increased morbidity when hemodynamic parameters are abnormal. Although oscillometric monitoring of arterial blood pressure (BP) is widely used due to its simplicity and lack of side effects, these values are not always correlated with microcirculation and oxygen delivery. OBJECTIVES: This review focuses on different tools for the assessment of hemodynamic status in preterm newborns. These include the measurement of clinical (BP, capillary refill time and urinary output (UO)) or biological parameters (lactate analysis), functional echocardiography, and near-infrared spectroscopy (NIRS). We describe the concepts and techniques involved in these tools in detail, and examine the interest and limitations of each type of assessment. CONCLUSIONS: This review highlights the complementarities between the different parameters used to assess hemodynamic status in preterm newborns during the first week of life. The analysis of arterial BP measured by oscillometric monitoring must take into account other clinical data, in particular capillary refill time and UO, and biological data such as lactate levels. Echocardiography improves noninvasive hemodynamic management in newborns but requires specific training. In contrast, NIRS may be useful in monitoring the clinical course of infants at risk of, or presenting with, hypotension. It holds the potential for early and noninvasive identification of silent hypoperfusion in critically ill preterm infants. However, more data are needed to confirm the usefulness of this promising tool in significantly changing the outcome of these infants.

Published
2017
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3. Hereditary angioedema, emergency management of attacks by a call center

Author

Alain Sobel, Gisèle Kanny, Michel Desmaizières, Aiham Ghazali, David Launay, Frédéric Adnet, Tomislav Petrovic, Ludovic Martin, Eric Vicaut, Anne Gompel, Bernard Floccard, Adrien Altar, Paul-Georges Reuter, Olivier Fain, Laurence Bouillet, Frédéric Lapostolle, Isabelle Durand-Zaleski, Nicolas Javaud, Isabelle Boccon-Gibod, Marqueurs cardiovasculaires en situation de stress (MASCOT (UMR_S_942 / U942)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)-Université Sorbonne Paris Nord, Centre de référence des angiœdèmes à kinines (CREAK), CHU Grenoble-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Université d'Angers (UA), Centre de Référence sur les angiœdèmes à kinines (CREAK), Service de Médecine Interne, Immunologie Clinique et Allergologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)-Université Sorbonne Paris Nord, Hôpital Louis Mourier - AP-HP [Colombes], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Diderot - Paris 7 (UPD7), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC), SAMU 93 [Bobigny], Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), AP-HP - Hôpital Bichat - Claude Bernard [Paris], URCEco, Hôpital Hôtel-Dieu [Paris], Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), CHU Grenoble, Hôpital Lariboisière-Fernand-Widal [APHP], Hôpital Claude Huriez [Lille], CHU Lille, Université de Lille, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL), Hopital port Royal, Partenaires INRAE, Université Paris Descartes - Paris 5 (UPD5), Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, and Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)

Subjects
Adult, Male, Pediatrics, medicine.medical_specialty, Hereditary angiœdema, [SDV]Life Sciences [q-bio], 030204 cardiovascular system & hematology, Real life setting, Emergency departments, 03 medical and health sciences, 0302 clinical medicine, Multicenter trial, Internal Medicine, medicine, Humans, 030212 general & internal medicine, Prospective Studies, Trial registration, Call Centers, Emergency Treatment, Emergency management, business.industry, Angioedemas, Hereditary, Autosomal dominant trait, Ancillary Study, Middle Aged, medicine.disease, 3. Good health, Call center, Quartile, Hereditary angioedema, Acute Disease, Female, business
Abstract

International audience; Objective: Hereditary angiœdema (HAE) is a rare autosomal dominant disease characterized by recurrent, unpredictable, potentially life-threatening swelling. Objective is to assess the management of the acute HAE attacks in the real life setting through a call center in France.Methods: A pre-specified ancillary study of SOS-HAE, a cluster-randomized prospective multicenter trial, was conducted. HAE patients were recruited from 8 participating reference centers. The outcome of interest was the rate of hospitalization.Results: onerhundred patients were included. The median (quartile) age was 38 (29-53) years, and 66 (66%) were female. Eighty (80%) patients had HAE type I, 8 (8%) had HAE type II and 12 (12%) patients had FXII-HAE. Fifty-one (51%) patients had experienced at least one time the call center during the follow-up. Nine over 166 (5%) attacks for 9 different patients resulted in hospital admission to the hospital (in the short-stay unit, ie

Published
2019
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4. Educational and health outcomes associated with bronchopulmonary dysplasia in 15-year-olds born preterm

Author

Catherine Arnaud, Christophe Delacourt, Marie Mittaine, Pierre-Yves Ancel, Didier Pinquier, Marie Vestraete, Laure Couderc, Stéphane Marret, Alice Hadchouel, David Drummond, Adèle Bellino, Héloïse Torchin, Jean-Christophe Rozé, Jessica Rousseau, Paediatric Pulmonology, Ghent University Hospital, Université Paris Descartes - Paris 5 (UPD5), Hopital port Royal, Partenaires INRAE, Université de Nantes (UN), Epidémiologie et analyses en santé publique : risques, maladies chroniques et handicaps (LEASP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Purpan (CHU Purpan), Centre hospitalier universitaire de Nantes (CHU Nantes), Institut National de la Santé et de la Recherche Médicale (INSERM), Université Sorbonne Paris Cité (COMUE) (USPC), AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], ProdInra, Migration, 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), and Drummond, David

Subjects
Male, Pediatrics, European People, Social Sciences, Logistic regression, Adolescents, Pathology and Laboratory Medicine, Vascular Medicine, Cohort Studies, Families, 0302 clinical medicine, Sociology, Pregnancy, Medicine and Health Sciences, Ethnicities, 030212 general & internal medicine, French People, Children, Bronchopulmonary Dysplasia, Multidisciplinary, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Academic Success, Schools, Organic Compounds, maternity, Chemistry, ventilatory, Cohort, Physical Sciences, Premature Birth, Medicine, Female, Steroids, France, Cohort study, Research Article, medicine.medical_specialty, Dysplasia, Adolescent, Pédiatrie, Science, xygen, Médecine humaine et pathologie, Special needs, Hemorrhage, behavioral disciplines and activities, Education, neonatal, 03 medical and health sciences, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, Signs and Symptoms, Diagnostic Medicine, 030225 pediatrics, mental disorders, medicine, Humans, Full Term, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, business.industry, Organic Chemistry, Infant, Newborn, Chemical Compounds, Biology and Life Sciences, Neonates, Patient Acceptance of Health Care, medicine.disease, Bronchopulmonary dysplasia, Age Groups, People and Places, Human health and pathology, Population Groupings, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Developmental Biology
Abstract

IntroductionTo evaluate the consequences of bronchopulmonary dysplasia (BPD) on academic outcomes and healthcare use in adolescents born very preterm.MethodsThis cohort study included 15-year-old adolescents born very preterm (< 32 weeks) between 2011 and 2013, with and without BPD, and controls born full term. Data regarding academic performance, current medical follow-up, and family characteristics were collected. Multivariate logistic regression was used to quantify relationships between academic outcomes and BPD.ResultsFrom the 1341 children included in the initial cohort, 985 adolescents were eligible and 351 included (55 preterms with a history of BPD, 249 without, and 47 controls). Among adolescents born very preterm, a history of BPD was associated with a higher risk to attend a school for children with special needs (p < 0.05) and to have repeated a grade (p = 0.01). It was also associated with an increased number of medical and paramedical consultations. A history of BPD was not associated with the parents' employment status, family structure, or the presence of younger siblings.ConclusionThis study highlights that a history of BPD is associated with poorer academic outcomes and high healthcare use in adolescence.

Published
2019
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5. Focal adenomyosis is associated with primary infertility.

Author

Bourdon M, Santulli P, Oliveira J, Marcellin L, Maignien C, Melka L, Bordonne C, Millisher AE, Plu-Bureau G, Cormier J, and Chapron C

Subjects
Adenomyosis diagnostic imaging, Adenomyosis physiopathology, Adolescent, Adult, Case-Control Studies, Cross-Sectional Studies, Female, Humans, Infertility, Female diagnosis, Infertility, Female physiopathology, Magnetic Resonance Imaging, Phenotype, Pregnancy, Risk Assessment, Risk Factors, Young Adult, Adenomyosis complications, Fertility, Infertility, Female etiology
Abstract

Objective: To study the association between adenomyosis and infertility, according to the adenomyosis phenotype as diagnosed by magnetic resonance imaging (MRI)., Design: A single-center, cross-sectional study., Setting: University hospital-based research center., Patient(s): Patients between 18 and 42 years of age who were surgically explored for benign gynecological conditions at our institution between May 2005 and May 2018. Only women with uterine MRIs performed by a senior radiologist were retained for this study., Intervention(s): Primary and secondary infertile women were compared with women without infertility. In addition, the women were diagnosed according to the MRI findings as having adenomyosis (focal adenomyosis of the outer myometrium [FAOM] and/or diffuse adenomyosis phenotypes) or no adenomyosis., Main Outcome Measure(s): Primary and secondary infertility-associated factors., Result(s): A total of 496 women were included in the study population. Three groups were compared: a no infertility group (n = 361), a primary infertility group (n = 84), and a secondary infertility group (n = 51). Among them, 248 women did not present adenomyosis lesions and 248 women had a radiological diagnosis of adenomyosis. The presence of FAOM was significantly associated with primary infertility. Diffuse adenomyosis was not found to be associated with infertility. The distribution of endometriosis or leiomyomas was not significantly different between the groups. After a multinomial regression model including the women's age and associated endometriosis or leiomyoma, the presence of FAOM was identified as an independent associated factor of primary infertility (adjusted odds ratio 1.9; 95% confidence interval 1.1-3.3)., Conclusion(s): The presence of FAOM was associated with primary infertility. This study opens the door to future clinical and basic studies aimed at better characterization of FAOM and its infertility-related physiopathology., (Copyright © 2020 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)

Published
2020
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6. Up-regulation of GAD65 and GAD67 in remaining hippocampal GABA neurons in a model of temporal lobe epilepsy.

Author

Esclapez M and Houser CR

Subjects
Animals, Disease Models, Animal, Hippocampus cytology, Immunohistochemistry, In Situ Hybridization, Male, Pilocarpine toxicity, RNA, Messenger analysis, Rats, Rats, Sprague-Dawley, Up-Regulation, Epilepsy, Temporal Lobe enzymology, Gene Expression Regulation, Enzymologic physiology, Glutamate Decarboxylase genetics, Hippocampus metabolism, Isoenzymes genetics, Neurons metabolism, gamma-Aminobutyric Acid physiology
Abstract

In the pilocarpine model of chronic limbic seizures, subpopulations of glutamic acid decarboxylase (GAD)-containing neurons within the hilus of the dentate gyrus and stratum oriens of the CA1 hippocampal region are vulnerable to seizure-induced damage. However, many gamma-aminobutyric acid (GABA) neurons remain in these and other regions of the hippocampal formation. To determine whether long-term changes occur in the main metabolic pathway responsible for GABA synthesis in remaining GABA neurons, the levels of mRNA and protein labeling for the two forms of GAD (GAD65 and GAD67) were studied in pilocarpine-treated animals that had developed spontaneous seizures. Qualitative and semiquantitative analyses of nonradioactive in situ hybridization experiments demonstrated marked increases in the relative amounts of GAD65 and GAD67 mRNAs in remaining hippocampal GABA neurons. In addition, immunohistochemical studies demonstrated parallel increases in the intensity of terminal labeling for both GAD65 and GAD67 isoforms throughout the hippocampal formation. These increases were most striking for GAD65, the isoform of GAD that is particularly abundant in axon terminals. These findings demonstrate that, in a neuronal network that is capable of generating seizures, both GAD65 and GAD67 are up-regulated at the gene and protein levels in the remaining GABA neurons of the hippocampal formation. This study provides further evidence for the complexity of changes in the GABA system in this model of temporal lobe epilepsy., (Copyright 1999 Wiley-Liss, Inc.)

Published
1999

7. Antenatal thalamic lesions in the newborn: two anatomoclinical cases.

Author

Bordarier C, Moktari M, Rodriguez D, Adamsbaum C, and Robain O

Subjects
Brain pathology, Calcinosis pathology, Calcinosis physiopathology, Female, Glial Fibrillary Acidic Protein metabolism, Humans, Immunohistochemistry, Infant, Newborn, Male, Thalamic Diseases pathology, Thalamic Diseases physiopathology, Tomography, X-Ray Computed, Calcinosis genetics, Thalamic Diseases genetics
Abstract

We report two cases of antenatal bilateral thalamic lesions constituted by neuronal loss, gliosis and mineralized glial or neuronal cells. No etiology could be found. Neuroradiological findings were poorly correlated with histological changes. These cases are compared with the few previously reported cases of the same condition. We strongly recommend extensive etiological investigation as recurrence occurred in one family.

Published
1997
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