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1. Les auteurs

Author

Pr Roland Henaine, Pr Jean-Benoît Thambo, Dr Sarah Abdellaoui, Pr Philippe Acar, Dr Pascal Amedro, Dr Rihab Arbi, Dr Fanny Bajolle, Dr Mohamed Bakloul, Dr Alban-Elouen Baruteau, Dr Adeline Basquin, Dr Rania Bassil, Dr Claire Bertail-Galoin, Dr Laurent Bonnemains, Dr Benjamin Bouyer, Dr Mélanie Brard, Dr Patricia Bretones, Dr Philippe Brosset, Dr Cristian Bulescu, Dr Aurélie Chalard, Pr Ghassan Chehab, Dr Nicolas Combes, Dr Fabio Cuttone, Dr Linda Daou, Dr Claire Dauphin, Dr Nicolas Derval, Dr Capucine Didier, Dr Marie-Lou Dinet, Dr Corinne Ducreux, Dr Emmanuelle Fournier, Dr Arthur Gavotto, Pr Francois Godart, Dr Khaled Hadeed, Pr Jérôme Harambat, Pr Anna-Maria Henaine, Pr Lucile Houyel, Dr Zakaria Jalal, Dr Hervé Joly, Dr Clément Karsenty, Dr Julie Lamy, Pr Bertrand Leobon, Dr Marilyne Lévy, Dr Hugues Lucron, Dr Alice Maltret, Dr Mona Massoud, Dr Mathilde Méot, Dr Noélie Miton, Pr Patrice Morville, Dr Karine Nubret, Pr Caroline Ovaert, Dr Nicolas Pangaud, Dr Élodie Perdreau, Dr Thomas Perouse de Montclos, Pr Christine Pietremont, Dr Bénédicte Romefort, Pr Caroline Rooryck-Thambo, Pr Francois Roubertie, Pr Zakhia Saliba, Dr Élie Sawan, Pr Jean-Marc Schleich, Dr Pierre-Emmanuel Séguéla, Dr Émilie Testet, Dr Olivia Vasile, Dr Maëlys Venet, Dr Magali Veyrier, and Dr Camille Walton

Published
2021
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3. Impact of a centre and home-based cardiac rehabilitation program on the quality of life of teenagers and young adults with congenital heart disease: The QUALI-REHAB study rationale, design and methods

Author

Laurent Poirette, Frederique Sidney, Claire Dauphin, Fanny Bajolle, Loïc Macé, Magalie Ladouceur, Nicolas Combes, Laurence Cohen, Oxana-Anca Neagu, Arthur Gavotto, Philippe Brosset, Antoine Legendre, Pascal Amedro, Camille Soullier, Stefan Matecki, Yves Dulac, Hélène Bouvaist, Gilles Bosser, Jean-Benoit Thambo, Sébastien Hascoët, Caroline Ovaert, Sophie Guillaumont, Xavier Iriart, Damien Bonnet, Sonia Corone, Manon Ladeveze, Sarah Cohen, Gregoire De La Villeon, Charlene Bredy, D'Arcy Vandenberghe, Kathleen Lavastre, Marie-Christine Picot, Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de cardiologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Université Paris Descartes - Paris 5 (UPD5), Institut Régional de Médecine Physique et de Réadaptation Louis Pierquin [Nancy] (IRR Louis Pierquin), Centre Hospitalier Universitaire [Grenoble] (CHU), Service de Pédiatrie médicale [CHU Limoges], CHU Limoges, Centre de Recherche Magellan, Université Jean Moulin - Lyon 3 (UJML), Université de Lyon-Université de Lyon-Institut d'Administration des Entreprises (IAE) - Lyon, Université Grenoble Alpes - UFR Pharmacie (UGA UFRP), Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Centre médical de Bligny, Centre hospitalier de Bligny, 91640 Briis-sous-Forges, Service de Médecine Interne [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, CHU Clermont-Ferrand, Service pédiatrie-cardiologie, CHU Toulouse [Toulouse]-Hôpital des Enfants, CHU Toulouse [Toulouse], Université Paris-Sud - Paris 11 - Faculté de médecine (UP11 UFR Médecine), Université Paris-Sud - Paris 11 (UP11), Centre de Physiopathologie Toulouse Purpan (CPTP), 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)-Centre National de la Recherche Scientifique (CNRS), Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), 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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Marseille, Centre réhabilitation Cardiaque de Beaumont de Lomagne, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Leon Berard Hospital, Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Service cardiologie pédiatrique [Bordeaux], CHU Bordeaux [Bordeaux], Clinique Pasteur [Toulouse], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Recherche Magellan, Service Cardiologie pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), and MORNET, Dominique

Subjects
Adult, Heart Defects, Congenital, Male, medicine.medical_specialty, Heart disease, Adolescent, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Population, 030204 cardiovascular system & hematology, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Deconditioning, Quality of life, medicine, Humans, 030212 general & internal medicine, Prospective Studies, Young adult, education, ComputingMilieux_MISCELLANEOUS, education.field_of_study, [SDV.GEN]Life Sciences [q-bio]/Genetics, Rehabilitation, Cardiac Rehabilitation, Exercise Tolerance, business.industry, VO2 max, medicine.disease, Home Care Services, 3. Good health, [SDV] Life Sciences [q-bio], Treatment Outcome, Physical therapy, Quality of Life, Health education, Female, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies
Abstract

Background Advances in congenital heart disease (CHD) have transferred the mortality from childhood to adulthood. Exercise capacity in young patients with CHD remains lower than in the general population, resulting in deconditioning and impaired quality of life. Evidence based-medicine in cardiac rehabilitation in this age group with CHD remains limited. We present the QUALI-REHAB study rationale, design and methods. Methods The QUALI-REHAB trial is a nationwide, multicentre, randomised, controlled study, aiming to assess the impact of a combined centre and home-based cardiac rehabilitation program on the quality of life of adolescents and young adults (13 to 25 years old) with CHD. Patients with a maximum oxygen uptake (VO2max) Conclusion After focusing on the survival in CHD, current research is opening on secondary prevention and patient-related outcomes. The QUALI-REHAB trial intends to assess if a combined centre and home-based rehabilitation program, could improve the quality of life and the exercise capacity in youth with CHD. Trial registration: Clinicaltrials.gov ( NCT03690518 ).

Published
2018
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4. Familial isolated congenital asplenia: a rare, frequently hereditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others

Author

Alain Fisher, Philippe Brosset, Valérie Belin, Céline Menetrey, Lionel de Lumley, and B Gilbert

Subjects
medicine.medical_specialty, Pediatrics, Asplenia, Bacteremia, Spleen, medicine.disease_cause, Risk Assessment, Severity of Illness Index, Congenital Abnormalities, Sepsis, Fatal Outcome, Streptococcus pneumoniae, medicine, Humans, Familial isolated congenital asplenia, business.industry, Isolated congenital asplenia, Infant, Pneumonia, Pneumococcal, medicine.disease, Anti-Bacterial Agents, Surgery, Erythrocyte Inclusions, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Drug Therapy, Combination, Female, Splenic disease, business, Meningitis
Abstract

Congenital isolated asplenia may arise as a minor form of situs abnormalities or result from an unrelated specific defect of spleen development. It is a rare life-threatening condition and pneumococcal sepsis is often the first sign of the disease. We report on the case of a deceased 11-month-old girl and her father who developed recurrent pneumococcal meningitis. The fatal evolution in the girl was due to Streptococcus pneumoniae serotype 23 with intermediate penicillin sensitivity 4 h after amoxicillin (100 mg/kg i.v.) administration. Establishing the diagnosis of congenital isolated asplenia in the case of pneumococcal sepsis can be achieved by performing two easy and non-invasive investigations: searching for Howell-Jolly bodies on blood smears and performing ultrasound examination of the abdomen to look for the spleen. In the case of congenital isolated asplenia, use of appropriate prophylaxis could save the lives of affected children. Our review of the literature yielded 31 cases of congenital isolated asplenia. Thirteen were sporadic and 18 were familial cases involving eight families. Conclusion: in the case of Streptococcus pneumoniae sepsis, a systematic search for Howell-Jolly bodies on blood smears and ultrasound examination of the abdomen for the presence of asplenia should be mandatory to detect isolated congenital asplenia. If asplenia is found, potentially life-saving antibiotic prophylaxis and pneumococcal vaccination should be initiated.

Published
2002
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5. Familial 18 centromere variant resulting in difficulties in interpreting prenatal interphase FISH

Author

Véronique Aubard, Faraj Terro, Catherine Yardin, Sylvie Bourthoumieu, Mathilde Beguet, Maryse Fiorenza, Françoise Esclaire, and Philippe Brosset

Subjects
Male, Buccal swab, Locus (genetics), Prenatal diagnosis, Biology, 03 medical and health sciences, 0302 clinical medicine, Fetal Heart, Chromosome 18, Pregnancy, Prenatal Diagnosis, Centromere, medicine, DiGeorge Syndrome, Humans, Interphase, X chromosome, In Situ Hybridization, Fluorescence, 030304 developmental biology, Genetics, 0303 health sciences, Chromosomes, Human, X, 030219 obstetrics & reproductive medicine, Chromosomes, Human, Y, medicine.diagnostic_test, Genetic Variation, Abortion, Induced, Molecular biology, Female, Anatomy, Chromosomes, Human, Pair 18, Fluorescence in situ hybridization
Abstract

We report here on a familial case of centromeric heteromorphism of chromosome 18 detected by prenatal interphase fluorescence in situ hybridization (FISH) analysis transmitted by the mother to her fetus, and resulting in complete loss of one 18 signal. The prenatal diagnosis was performed by interphase FISH (AneuVysion probe set, and LSI DiGeorge 22q11.2 kit) because of the presence of an isolated fetal cardiac abnormality, and was first difficult to interpret: only one centromeric 18 signal was detectable on prenatal interphase nuclei, along with one signal for the Y and one for the X chromosome. The LSI DiGeorge 22q11.2 kit also showed the absence of one TUPLE 1 signal on all examined nuclei. In fact, the FISH performed on maternal buccal smear displayed the same absence of one chromosome 18 centromeric signal, combined with the presence of two TUPLE1 signals. All these results led to the diagnosis of an isolated 22q11.2 fetal microdeletion that was confirmed on metaphases spreads. This case illustrates once again that the locus specific (LSI) probes are more effective than the alpha centromeric probes for interphase analysis. The development of high-quality LSI probes for chromosomes 18, X and Y could avoid the misinterpretation of prenatal interphase FISH leading to numerous additional and expensive investigations.

Published
2010

6. Moving from bag to catheter for urine collection in non-toilet-trained children suspected of having urinary tract infection: a paired comparison of urine cultures

Author

Cécile Étoubleau, Marianne Reveret, L. Fourcade, Delphine Brouet, Claire Bahans, Isabelle Badier, Philippe Brosset, Vincent Guigonis, Philippe Blanc, Fabien Garnier, Biomolécules Thérapies anti-tumorales (EA4021), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Service de chirurgie pédiatrique viscérale, orthopédique et plastique [CHU Limoges], CHU Limoges, Service de Bactériologie, Virologie, Hygiène [CHU Limoges], Biologie moléculaire et cellulaire des microorganismes (EA3175), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Institut National de la Santé et de la Recherche Médicale (INSERM), Alcatel Space, Physiologie Moléculaire de la Réponse Immune et des Lymphoproliférations (PMRIL), and Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, medicine.medical_specialty, Urinalysis, Urinary system, medicine.medical_treatment, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Paired comparison, Urine, MESH: Urinary Tract Infections, Urinary catheterization, Specimen Handling, MESH: Urine, Leukocyte Count, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], medicine, Humans, 030212 general & internal medicine, Diagnostic Errors, MESH: Specimen Handling, Urine cytology, MESH: Humans, medicine.diagnostic_test, business.industry, MESH: Child, Preschool, Infant, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, MESH: Infant, MESH: Male, 3. Good health, Surgery, Catheter, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, MESH: Leukocyte Count, Urinary Tract Infections, Pediatrics, Perinatology and Child Health, MESH: Diagnostic Errors, MESH: Urinary Catheterization, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Urinary Catheterization, business, MESH: Female, Urine collection
Abstract

International audience; OBJECTIVE: To compare, in the same children, urine culture results from bag- versus catheter-obtained specimens with catheter culture as the reference. STUDY DESIGN: A total of 192 non-toilet-trained children

Published
2009
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7. Liste des auteurs

Author

Philippe Acar, Yacine Aggoun, Damien Bonnet, Younes Boudjemline, Philippe Brosset, Alain Chantepie, Claire Dauphin, Yves Dulac, Laurent Fermont, Alain Fraisse, Véronique Gournay, Sophie Guillaumont, Pierrette Habib, Maria Jimenez, Sophie Ketterer, Bernard Kreitmann, Virginie Lambert, Jean-René Lusson, Pierre Massabuau, Soizic Paranon, Jean-Michel Rauzier, Christian Rey, Jean-Marc Schleich, and Jean-Benoît Thambo

Published
2008
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8. Isolated cleft of the posterior mitral valve leaflet assessed by real-time 3D echocardiography

Author

Philippe Brosset, Philippe Acar, and Pierre-Emmanuel Séguéla

Subjects
Heart Defects, Congenital, Male, medicine.medical_specialty, Three-dimensional transthoracic echocardiography, Echocardiography, Three-Dimensional, Fuite mitrale, Real time 3d echocardiography, Posterior mitral valve leaflet, Predictive Value of Tests, Mitral valve, Internal medicine, Humans, Medicine, Cardiopathie congénitale, Mitral regurgitation, business.industry, Mitral Valve Insufficiency, General Medicine, Congenital cleft, Echocardiography, Doppler, Color, Surgery, Fente mitrale, medicine.anatomical_structure, Congenital heart defects, Child, Preschool, Predictive value of tests, Cardiology, Échocardiographie transthoracique 3D, Mitral Valve, Cleft in left atrioventricular valve, Congenital disease, Cardiology and Cardiovascular Medicine, business
Published
2011
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