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1. A prospective multicentre REFCOR study of 470 cases of head and neck Adenoid cystic carcinoma: epidemiology and prognostic factors

Author

Esteban Brenet, Sylvain Morinière, Pierre Philouze, Jean Michel Goujon, Odile Casiraghi, Florent Espitalier, Laurence Digue, A. Auperin, Nicolas Fakhry, Christian Righini, Rabah Taouachi, Michel Wassef, Olivier Mauvais, Muriel Hourseau, Franck Jegoux, Bertrand Baujat, Marie Christine Kaminsky, Olivier Bouchain, Chloé Bertolus, Juliette Thariat, Jean Paul Marie, Valentin Calugaru, Emmanuelle Uro-Coste, Sarah Atallah, Anne Sudaka, Cécile Badoual, Nicolas Saroul, Philippe Schultz, Stéphanie Dakpé, CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Gustave Roussy (IGR), Génétique (Biologie pathologie), Département de biologie et pathologie médicales [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Laboratoire Parole et Langage (LPL), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Assistance Publique - Hôpitaux de Marseille (APHM), Institut Curie [Paris], Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre hospitalier universitaire de Nantes (CHU Nantes), Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Institut de Cancérologie de Lorraine - Alexis Vautrin [Nancy] (UNICANCER/ICL), UNICANCER, CHU Amiens-Picardie, CHirurgie, IMagerie et REgénération tissulaire de l’extrémité céphalique - Caractérisation morphologique et fonctionnelle - UR UPJV 7516 (CHIMERE), Université de Picardie Jules Verne (UPJV), Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Service ORL et chirurgie cervico-faciale [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Service d'Anatomopathologie [Bichat - Claude Bernard], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), CHU Pitié-Salpêtrière [AP-HP], Chemistry, Oncogenesis, Stress and Signaling (COSS), Université de Rennes (UR)-CRLCC Eugène Marquis (CRLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN), CHU Strasbourg, Hospices Civils de Lyon (HCL), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ 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)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Service de Chirurgie Maxillo-Faciale et Chirurgie Plastique [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Ischémie Reperfusion en Transplantation d’Organes Mécanismes et Innovations Thérapeutiques ( IRTOMIT), Université de Poitiers-Institut National de la Santé et de la Recherche Médicale (INSERM), Groupe de Recherche sur le Handicap Ventilatoire (GRHV), CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institute for Research and Innovation in Biomedicine (IRIB), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d'ORL, chirurgie cervico-faciale [Rouen], Hôpital Charles Nicolle [Rouen], Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Normandie Université (NU), UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Normandie Université (NU)-Normandie Université (NU), Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Reims (CHU Reims), Service de biostatistique et d'épidémiologie (SBE), Direction de la recherche clinique [Gustave Roussy], and Adenoid Cystic Carcinoma Research Foundation

Subjects
0301 basic medicine, Adult, Male, Cancer Research, medicine.medical_specialty, Adolescent, Adenoid cystic carcinoma, [SDV]Life Sciences [q-bio], Prognostic factors, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Risk Factors, Internal medicine, Epidemiology, medicine, Humans, Prospective Studies, Prospective cohort study, Survival analysis, Aged, Aged, 80 and over, Proportional hazards model, business.industry, Hazard ratio, Event-free survival, Middle Aged, medicine.disease, Prognosis, Salivary Gland Neoplasms, Carcinoma, Adenoid Cystic, Survival Analysis, REFCOR, Progression-Free Survival, 030104 developmental biology, Oncology, Head and Neck Neoplasms, 030220 oncology & carcinogenesis, Cohort, Disease Progression, Female, France, business, Body mass index
Abstract

International audience; Background: Adenoid cystic carcinoma (ACC) accounts for 1% of malignant head and neck tumours [1] and 10% of salivary glands malignant tumours. The main objective of our study is to investigate the prognostic factors influencing the event-free survival (EFS) of patients with ACC. Patients and methods: A multicentre prospective study was conducted from 2009 to 2018. All 470 patients with ACC whose survival data appear in the REFCOR database were included in the study. The main judgement criterion was EFS. Both a bivariate survival analysis using log-rank test and a multivariate using Cox model were performed using the R software. Results: Average age was 55 years. Females accounted for 59.4% of the cohort. The body mass index (BMI) was normal in 86% of cases. Tumours were located in minor salivary glands in 60% of cases. T3/T4 stages represented 58%; 89% of patients were cN0. histological grade III was observed on 21% of patients. The EFS and overall 5-year survival rates were 50% and 85%, respectively. After adjustment, the most significant pejorative prognostic factors were age >= 65 years (hazard ratio [HR] = 1.67), BMI

Published
2020
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2. Multicenter assessment of exclusive endoscopic endonasal approach for the treatment of 53 olfactory neuroblastomas

Author

Héloïse de Kermadec, P.-L. Bastier, Cécile Rumeau, Philippe Herman, Olivier Choussy, Louis Crampette, André Coste, Sébastien Vergez, Justin Michel, Elie Serrano, Christian Righini, Anjarasoa Tsaranazy, Emile Reyt, Benjamin Verillaud, Ludovic de Gabory, V. Trevillot, Geoffrey Mortuaire, Roger Jankowski, Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Hôpital Lariboisière, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Faciale [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Assistance Publique - Hôpitaux de Marseille (APHM), Centre Hospitalier Intercommunal de Créteil (CHIC), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service d'ORL et de chirurgie cervicale, CHU Grenoble, Service d'ORL, chirurgie cervico-faciale [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Hôpital Charles Nicolle [Rouen]-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service d'ORL, Hôpital Gui de Chauliac (CHRU de Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Montpellier (UM), Hôpital de Rangueil, CHU Toulouse [Toulouse], and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7)

Subjects
Adult, Male, Natural Orifice Endoscopic Surgery, medicine.medical_specialty, medicine.medical_treatment, Nose Neoplasms, Esthesioneuroblastoma, Olfactory, [SDV.MHEP.CHI]Life Sciences [q-bio]/Human health and pathology/Surgery, olfactory cleft, Disease-Free Survival, endoscopic surgery, neuroblastoma, 03 medical and health sciences, 0302 clinical medicine, Neuroblastoma, Positive Margins, sinus cancer, Humans, Medicine, Pathological, Craniotomy, Aged, Retrospective Studies, Periorbita, Olfactory Neuroblastoma, business.industry, Head and neck cancer, Middle Aged, medicine.disease, 3. Good health, Surgery, Survival Rate, Treatment Outcome, Otorhinolaryngology, 030220 oncology & carcinogenesis, Female, Nasal Cavity, business, Meningitis, 030217 neurology & neurosurgery
Abstract

International audience; BACKGROUND:Given the particularities of olfactory neuroblastoma (ONB) and the lack of studies on the subject, a multicenter collaborative study was conducted to assess treatment strategy.METHODS:Fifty-three patients with ONB were included from the French Rare Head and Neck Cancer Expert Network (REFCOR) database: 16T1, 8T2, 19T3, and 10T4. All cases were treated endoscopically with skull base removal and repair in 26 cases (49%) and without external craniotomy.RESULTS:The overall survival (OS) and disease-free survival (DFS) rates at 5 years were 87% and 71%, respectively, with mean follow-up of 45.4 ± 26.5 months. The complication rate was 18.8% with 4 cases of meningitis. Pathological analysis showed positive margins in 26.8%, notably on the dura-mater and periorbita, without impairment of OS or DFS. Forty-eight patients received adjuvant radiotherapy on T ± N. Ten patients had a recurrence (18.9%). Six patients died of their disease. Prophylactic neck irradiation seemed to reduce the recurrence rate.CONCLUSION:Exclusively endoscopic treatment proved efficient and reliable in a large controlled series.

Published
2018
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3. Retropharyngeal lipostructure in the treatment of velopharyngeal insufficiency: A prospective study and update

Author

P.-H. Vivier, S. Zaer, Jean-Paul Marie, I. Amstutz Montadert, N. Bon-Mardion, I. Felix, Service d'ORL, chirurgie cervico-faciale [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Hôpital Charles Nicolle [Rouen]-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service d'imagerie médicale [CHU Rouen], Hôpital Charles Nicolle [Rouen]-CHU Rouen, and Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN)

Subjects
Male, medicine.medical_specialty, Velopharyngeal Insufficiency, Voice Quality, Chromosomes, Human, Pair 22, [SDV]Life Sciences [q-bio], 03 medical and health sciences, 0302 clinical medicine, Velopharyngeal insufficiency, otorhinolaryngologic diseases, medicine, Humans, Prospective Studies, 22q11 microdeletion, Autografts, Child, 030223 otorhinolaryngology, Prospective cohort study, Velopharyngeal Sphincter, Nasality, business.industry, University hospital, Magnetic Resonance Imaging, 3. Good health, Surgery, Treatment Outcome, medicine.anatomical_structure, Adipose Tissue, Otorhinolaryngology, 030220 oncology & carcinogenesis, Dynamic contrast-enhanced MRI, Pharynx, Sphincter, Female, Chromosome Deletion, business
Abstract

Introduction Retropharyngeal lipostructure is a recent procedure in velopharyngeal insufficiency (VPI), offering an effective alternative to heavier surgery. Objectives To update and assess retropharyngeal lipostructure as a treatment for VPI in the University Hospital Center of Rouen (France). Type of study Single-center prospective study, from May 2012 to May 2014. Patients and methods Six patients (4 girls, 2 boys) presenting with VPI were treated by retropharyngeal lipostructure. Age at surgery ranged between 6 and 12 years. Four of the patients bore a 22q11 microdeletion. Treatment was indicated in case of Borel-Maisonny type 2b (n = 2) or 2 m (n = 4) despite well-conducted speech therapy and of ≥ 50% velopharyngeal sphincter closure on nasal endoscopy. Patients were assessed preoperatively and at 3 months, by a multidisciplinary team. Borel-Maisonny type was assessed by a speech therapist. Nasality was measured on assisted vocal evaluation (EVA®). Sphincter closure was assessed on dynamic MRI. Results Between 6 and 8 cm3autologous fat was injected. At 3 months, 4 children showed 1-grade improvement in Borel-Maisonny type. Nasality decreased systematically, from a mean 14.5% preoperatively to 10.5% postoperatively. MRI showed improvement in all cases, with complete closure in occlusive vowels in 3 children. Conclusion EVA® and MRI provide precise objective assessment of VPI. Retropharyngeal lipostructure is a simple, relatively non-invasive, reproducible technique, providing good results in VPI.

Published
2019
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4. Reinnervation of the diaphragm by the inferior laryngeal nerve to the phrenic nerve in ventilator-dependent tetraplegic patients with C3-5 damage

Author

Brigitte Perrouin Verbe, Anne Marie Leroi, Thomas Similowski, Capucine Morélot-Panzini, Brigitte Soudrie, Jésus Gonzalez-Bermejo, Jean Paul Marie, Benoit Veber, Eric Verin, Service de physiologie digestive, urinaire, respiratoire et de l'exercice [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Hôpital Charles Nicolle [Rouen], Groupe de Recherche sur le Handicap Ventilatoire (GRHV), Institute for Research and Innovation in Biomedicine (IRIB), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-CHU Rouen, Normandie Université (NU), CRMPR les herbiers, Bois Guillaume, France., Service de Pneumologie et Réanimation Médicale [CHU Pitié-Salpêtrière] (Département ' R3S '), CHU Pitié-Salpêtrière [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), Neurophysiologie Respiratoire Expérimentale et Clinique, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de réanimation médicale [CHU Rouen], Hôpital Charles Nicolle [Rouen]-CHU Rouen, UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Normandie Université (NU)-Normandie Université (NU), Service de MPR, CHU de Nantes, Nantes, France., SR Handicap Lourd, Hopital marin, Hendaye, France., Nutrition, inflammation et dysfonctionnement de l'axe intestin-cerveau (ADEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Normandie Université (NU)-Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'ORL, chirurgie cervico-faciale [Rouen], Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Normandie Université (NU)-Normandie Université (NU)-Hôpital Charles Nicolle [Rouen]-Université de Rouen Normandie (UNIROUEN), douville, sabine, Hôpital Charles Nicolle [Rouen], Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Normandie Université (NU)-Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Neurophysiologie Respiratoire Expérimentale et Clinique (UMRS 1158)

Subjects
Pulmonary and Respiratory Medicine, medicine.medical_specialty, [SDV.MHEP.PHY] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Diaphragmatic breathing, lcsh:Medicine, Anastomosis, 03 medical and health sciences, Surgical anastomosis, 0302 clinical medicine, Swallowing, medicine, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Tetraplegia, ComputingMilieux_MISCELLANEOUS, Phrenic nerve, business.industry, lcsh:R, Original Articles, medicine.disease, musculoskeletal system, 3. Good health, Diaphragm (structural system), Surgery, medicine.anatomical_structure, 030228 respiratory system, Anesthesia, business, 030217 neurology & neurosurgery, Reinnervation
Abstract

The aim of this study was to evaluate the feasibility of unilateral diaphragmatic reinnervation in humans by the inferior laryngeal nerve. This pilot study included chronically ventilated tetraplegic patients with destruction of phrenic nerve motoneurons. Five patients were included. They all had a high level of tetraplegia, with phrenic nerve motor neuron destruction. They were highly dependent on ventilation, without any possibility of weaning. They did not have other chronic pathologies, especially laryngeal disease. They all had diaphragmatic explorations to diagnose the destruction of the motoneurons of the phrenic nerves and nasoendoscopy to be sure that they did not have laryngeal or pharyngeal disease. Then, surgical anastomosis of the right phrenic nerve was performed with the inferior laryngeal nerve, by a cervical approach. A laryngeal reinnervation was performed at the same time, using the ansa hypoglossi. One patient was excluded because of a functional phrenic nerve and one patient died 6 months after the surgery of a cardiac arrest. The remaining three patients were evaluated after the anastomosis every 6 months. They did not present any swallowing or vocal alterations. In these three patients, the diaphragmatic explorations showed that there was a recovery of the diaphragmatic electromyogram of the right and left hemidiaphragms after 1 year. Two patients had surgical diaphragmatic explorations for diaphragmatic pacing 18–24 months after the reinnervation with excellent results. At 36 months, none of the patients could restore their automatic ventilation. In conclusion, this study demonstrated that diaphragmatic reinnervation by the inferior laryngeal nerve is effective, without any vocal or swallowing complications., Feasibility, safety and usefulness of phrenic neurotisation by the inferior laryngeal nerve in tetraplegic patients http://ow.ly/6S5s30fD2lf

Published
2017
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5. Évaluation de l’impact des systèmes d’humidification sur le comportement des ventilateurs de domicile utilisés pour le traitement de l’insuffisance respiratoire chronique

Author

A. Bertier, Maxime Patout, Adrien Kerfourn, Emeline Fresnel, Antoine Cuvelier, J.P. Marie, Service de pneumologie, oncologie thoracique et soins intensifs respiratoires [Rouen], Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Hôpital Charles Nicolle [Rouen]-CHU Rouen, Normandie Université (NU), Service d'ORL, chirurgie cervico-faciale [Rouen], CHU Rouen, and Normandie Université (NU)-Normandie Université (NU)-Hôpital Charles Nicolle [Rouen]-Université de Rouen Normandie (UNIROUEN)

Subjects
Pulmonary and Respiratory Medicine, 03 medical and health sciences, 0302 clinical medicine, 030228 respiratory system, 030212 general & internal medicine, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, ComputingMilieux_MISCELLANEOUS
Abstract

Introduction La ventilation non invasive (VNI) au long cours est usuellement prescrite avec un systeme d’humidification. Les effets secondaires sur le comportement des ventilateurs de domicile de cet ajout au circuit de VNI n’ont pas ete etudies. Notre objectif etait d’evaluer l’efficacite des systemes d’humidification et leurs consequences sur les performances intrinseques des ventilateurs. Methodes Il s’agissait d’une etude sur banc d’essai utilisant un poumon mecanique actif (ASL 5000, IngMar Medical®). Deux ventilateurs de domicile ont ete testes : Lumis (ResMed®) et Dreamstation (Philips Respironics®) (DS) sans humidificateur, avec humidificateur interne et avec humidificateur externe HC 150 (Fisher&Paykel®) (HE). Ont ete evalues : l’hygrometrie et la temperature du circuit ainsi que le comportement du ventilateur : travail, pressurisation, cyclage et asynchronismes. Resultats La variation de temperature induite par le systeme d’humidification integre de la DS etait significativement superieure a celle de la Lumis : +2,5 °C [IC95 % : 1,9 a 3,4] (p Conclusion L’efficacite des humidificateurs est variable et a un impact sur la qualite de la pressurisation des VNI.

Published
2019
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6. Morbidity and mortality revue of the French group of transoral robotic surgery: a multicentric study

Author

Philippe Ceruse, Gilles Dolivet, Karine Aubry, E. de Monès, Olivier Malard, Sébastien Vergez, Benjamin Lallemant, O. Choussy, Sylvain Morinière, Service d'Oto-rhino-laryngologie (ORL) et chirurgie cervico-faciale [CHU Limoges], CHU Limoges, CHU Toulouse [Toulouse], Service d'ORL, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Service ORL et chirurgie cervico-faciale [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Service d'ORL, chirurgie cervico-faciale [Rouen], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Centre hospitalier universitaire de Nantes (CHU Nantes), Institut de Cancérologie de Lorraine - Alexis Vautrin [Nancy] (UNICANCER/ICL), UNICANCER, Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Service d’Otorhinolaryngologie [Centre Hospitalier Lyon Sud - HCL], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), and Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)

Subjects
Larynx, Male, medicine.medical_specialty, Fistula, medicine.medical_treatment, Health Informatics, Aspiration pneumonia, Head and neck cancers, 03 medical and health sciences, 0302 clinical medicine, Tracheotomy, Postoperative Complications, da Vinci robot, Robotic Surgical Procedures, Transoral robotic surgery, medicine, Humans, Mortality, Risk factor, Stage (cooking), 030223 otorhinolaryngology, Intraoperative Complications, Aged, Retrospective Studies, business.industry, Retrospective cohort study, Length of Stay, Middle Aged, medicine.disease, 3. Good health, Surgery, medicine.anatomical_structure, Head and Neck Neoplasms, 030220 oncology & carcinogenesis, Female, Morbidity, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience; Transoral robotic assisted surgery (TORS) represents an innovative endoscopic therapeutic alternative in the treatment of head and neck tumors. Many publications favor this surgery, especially in terms of functional results. The aim of this study was to investigate the TORS morbidity and mortality and to identify the risk factors for complications. It is a multicenter retrospective study. All head and neck tumor patients treated by TORS were included in the study over a period of 5 years (2009-2014). The studied parameters were the intraoperative and post-operative complications including hemorrhage, fistula, tracheotomy, aspiration pneumonia and death. The parameters were correlated with age, tumor location, tumor stage, endoscopic exposure and patient's co-morbidities. 178 patients were included in the study. Malignant tumors classified as T1 were found in 169 cases (n = 51), T2 (n = 100), T3 (n = 16) and T4 (n = 2). The tumor locations were distributed as follows: larynx (n = 84), oropharynx (n = 51), and hypopharynx (n = 43). Fifty-three patients followed post-radiation therapy. We observed 12 intraoperative complications including 6 hemorrhage, 3 pharyngeal fistulas and 3 external surgical conversions. Postoperatively, we detected 33 hemorrhage, 27 aspiration pneumonia, 9 tracheostomy, 2 pharyngostomes, 2 cervical spondylitis and 2 deaths. The risk factors identified were (i) anticoagulant and/or antiplatelet therapy for hemorrhage, (ii) tumoral stage and the laryngeal location for aspiration pneumonia and (iii) laryngeal location for tracheostomy. Higher age over 65 years has been identified as a risk factor for all post-operative complications. TORS is a safe technique for the treatment of head and neck tumors. We identified some risk factors for complications which should systematically be studied in order to reduce its morbidity.

Published
2015
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7. Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

Author

Léger, Sandy, Balguerie, Xavier, Goldenberg, Alice, Drouin-Garraud, Valérie, Cabot, Annick, Amstutz-Montadert, Isabelle, Young, Paul, Joly, Pascal, Bodereau, Virginie, Holder-Espinasse, Muriel, Jamieson, Robyn, Krause, Amanda, Chen, Hongsheng, Baumann, Clarisse, Nunes, Luis, Dollfus, Hélène, Goossens, Michel, Pingault, Véronique, Physiopathologie et biothérapies des maladies inflammatoires et autoimmunes, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service d'ophtalmologie [Rouen], Normandie Université (NU)-Hôpital Charles-Nicolle, Service d'ORL, chirurgie cervico-faciale [Rouen], Normandie Université (NU)-Normandie Université (NU)-Hôpital Charles Nicolle [Rouen]-Université de Rouen Normandie (UNIROUEN), Service de Dermatologie [Rouen], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Service de Biochimie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de génétique clinique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Eye Genetics Research Group, Westmead Hospital [Sydney]-Children's Medical Research Institute and Save Sight Institute-The University of Sydney, Division of human Genetics, University of the Witwatersrand [Johannesburg] (WITS)-National Health Laboratory Service-School of Pathology, Department of Otolaryngology, central south university-Xiangya Hospital, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Serviço de Genética Médica, Faculdade de Ciencias Medicas-Hospital de Dona Estefania, Service de Génétique Médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Institut Mondor de Recherche Biomédicale (IMRB), and Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)

Subjects
MITF, integumentary system, Pigmentation, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Freckles, Tietz syndrome, Waardenburg syndrome
Abstract

International audience; The microphthalmia-associated transcription factor (MITF) is a basic helix-loop-helix leucine zipper transcription factor, which regulates melanocyte development and the biosynthetic melanin pathway. A notable relationship has been described between non-truncating mutations of its basic domain and Tietz syndrome, which is characterized by albinoid-like hypopigmentation of the skin and hair, rather than the patchy depigmentation seen in Waardenburg syndrome, and severe hearing loss. Twelve patients with new or recurrent non-truncating mutations of the MITF basic domain from six families were enrolled in this study. We observed a wide range of phenotypes and some unexpected features. All the patients had blue irides and pigmentation abnormalities that ranged from diffuse hypopigmentation to Waardenburg-like patches. In addition, they showed congenital complete hearing loss, diffuse hypopigmentation of the skin, freckling and ocular abnormalities, more frequently than patients with MITF mutations outside the basic domain. In conclusion, the non-truncating mutations of the basic domain do not always lead to Tietz syndrome but rather to a large range of phenotypes. Sun-exposed freckles are interestingly observed more frequently in Asian populations. This variability argues for the possible interaction with modifier loci.

Published
2012
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8. Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.: Non-truncating mutations of the MITF basic domain

Author

Léger, Sandy, Balguerie, Xavier, Goldenberg, Alice, Drouin-Garraud, Valérie, Cabot, Annick, Amstutz-Montadert, Isabelle, Young, Paul, Joly, Pascal, Bodereau, Virginie, Holder-Espinasse, Muriel, Jamieson, Robyn, Krause, Amanda, Chen, Hongsheng, Baumann, Clarisse, Nunes, Luis, Dollfus, Hélène, Goossens, Michel, Pingault, Véronique, Guellaen, Georges, Physiopathologie et biothérapies des maladies inflammatoires et autoimmunes, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service d'ophtalmologie [Rouen], Normandie Université (NU)-Hôpital Charles-Nicolle, Service d'ORL, chirurgie cervico-faciale [Rouen], Hôpital Charles Nicolle [Rouen], Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Service de Dermatologie [Rouen], Normandie Université (NU)-Normandie Université (NU), Service de Biochimie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de génétique clinique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Eye Genetics Research Group, Children's Medical Research Institute and Save Sight Institute-The University of Sydney -Westmead Hospital [Sydney], Division of human Genetics, University of the Witwatersrand [Johannesburg] (WITS)-National Health Laboratory Service-School of Pathology, Department of Otolaryngology, Xiangya Hospital-Central South University [Changsha], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Serviço de Genética Médica, Faculdade de Ciencias Medicas-Hospital de Dona Estefania, Service de Génétique Médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Institut Mondor de Recherche Biomédicale (IMRB), and Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)

Subjects
MITF, integumentary system, Pigmentation, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Freckles, Tietz syndrome, Waardenburg syndrome
Abstract

International audience; The microphthalmia-associated transcription factor (MITF) is a basic helix-loop-helix leucine zipper transcription factor, which regulates melanocyte development and the biosynthetic melanin pathway. A notable relationship has been described between non-truncating mutations of its basic domain and Tietz syndrome, which is characterized by albinoid-like hypopigmentation of the skin and hair, rather than the patchy depigmentation seen in Waardenburg syndrome, and severe hearing loss. Twelve patients with new or recurrent non-truncating mutations of the MITF basic domain from six families were enrolled in this study. We observed a wide range of phenotypes and some unexpected features. All the patients had blue irides and pigmentation abnormalities that ranged from diffuse hypopigmentation to Waardenburg-like patches. In addition, they showed congenital complete hearing loss, diffuse hypopigmentation of the skin, freckling and ocular abnormalities, more frequently than patients with MITF mutations outside the basic domain. In conclusion, the non-truncating mutations of the basic domain do not always lead to Tietz syndrome but rather to a large range of phenotypes. Sun-exposed freckles are interestingly observed more frequently in Asian populations. This variability argues for the possible interaction with modifier loci.

Published
2012
Full Text
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9. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

Author

Sebastien Albert, Pierre Bitoun, Christine Francannet, Françoise Denoyelle, Bruno Delobel, Didier Lacombe, Marie-Madeleine Eliot, Annie Sergent-Allaoui, Hélène Dollfus, Sébastien Schmerber, Alain Joannard, Pierre Chauvin, Muriel Houang, Valérie Drouin-Garraud, N. Loundon, Albert David, Erea-Noel Garabedian, Catherine Calais, Françoise Duriez, Rémy Couderc, Hélène Blons, Delphine Feldmann, Laurence Jonard, Christine Petit, Marie-Françoise Obstoy, Hélène Catros, Sandrine Marlin, Patrice Tran Ba Huy, Jacques Leman, Hubert Journel, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique des Déficits Sensoriels, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), ESIM - Déterminants Sociaux de la Santé et du Recours aux Soins (DS3), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de pédiatrie, CHU Grenoble-Hôpital Michallon, Service d'ORL et de chirurgie cervicale, CHU Grenoble, CHU Saint-Antoine [AP-HP], Centre Rochin, Unité de Génétique Médicale, CHR Vannes, Centre Gabriel Deshayes, Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Service d'ORL et chirurgie cervico-faciale, Service d'oto-rhino-laryngologie (ORL), Hôtel-Dieu, Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service d'ORL, chirurgie cervico-faciale [Rouen], Hôpital Charles Nicolle [Rouen], Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Service d'oto-rhino-laryngologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Service d'ORL, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Hôtel-Dieu-CHU Clermont-Ferrand, Service de Pédiatrie [Jean Verdier], Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier [AP-HP], Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), Service d'ORL pédiatrique et Chirurgie Cervico-faciale [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Biochimie et de Biologie Moléculaire [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), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de médecine nucléaire pédiatrique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Service d'ORL et de Chirurgie Cervicofaciale, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Chaire Génétique et physiologie cellulaire, Service de génétique et embryologie médicales [CHU Trousseau], Chauvin, Pierre, Neurobiologie des réseaux sensorimoteurs (NRS (U7060)), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), Neurobiologie des réseaux sensorimoteurs ( NRS (U7060) ), Université Paris Diderot - Paris 7 ( UPD7 ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Centre National de la Recherche Scientifique ( CNRS ), and Magnani, Christophe

Subjects
Male, Pediatrics, Vestibular aqueduct, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Deafness, Connexins, MESH: Membrane Transport Proteins, Cohort Studies, 0302 clinical medicine, MESH: Child, Prevalence, Medicine, Nonsyndromic deafness, Child, 030223 otorhinolaryngology, MESH: Cohort Studies, Genetics (clinical), Pendred syndrome, Genetics, Goiter, Homozygote, Syndrome, MESH: European Continental Ancestry Group, MESH: Infant, Connexin 26, medicine.anatomical_structure, Sulfate Transporters, [ SDV.NEU.NB ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Child, Preschool, 030220 oncology & carcinogenesis, Female, Sensorineural hearing loss, medicine.symptom, MESH: Homozygote, Adult, medicine.medical_specialty, MESH: Mutation, Adolescent, Hearing loss, Hearing Loss, Sensorineural, MESH: Deafness, MESH: Goiter, White People, Vestibular Aqueduct, 03 medical and health sciences, otorhinolaryngologic diseases, Humans, Alleles, MESH: Prevalence, MESH: Adolescent, MESH: Humans, business.industry, MESH: Alleles, MESH: Child, Preschool, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Infant, Membrane Transport Proteins, Congenital sensorineural hearing impairment, MESH: Adult, medicine.disease, MESH: Male, MESH: Connexins, FOXI1, MESH: Hearing Loss, Sensorineural, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Mutation, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, sense organs, business, MESH: Female, Enlarged vestibular aqueduct
Abstract

Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic origin in up to 75% of cases. It has been shown that mutations of the SLC26A4 (PDS) gene were involved in syndromic deafness characterized by congenital sensorineural hearing impairment and goitre (Pendred's syndrome), as well as in congenital isolated deafness (DFNB4). While the prevalence of SLC26A4 mutations in Pendred's syndrome is clearly established, it remains to be studied in large cohorts of patients with nonsyndromic deafness and detailed clinical informations. In this report, 109 patients from 100 unrelated families, aged from 1 to 32 years (median age: 10 years), with nonsyndromic deafness and enlarged vestibular aqueduct, were genotyped for SLC26A4 using DHPLC molecular screening and sequencing. In all, 91 allelic variants were observed in 100 unrelated families, of which 19 have never been reported. The prevalence of SLC26A4 mutations was 40% (40/100), with biallelic mutation in 24% (24/100), while six families were homozygous. All patients included in this series had documented deafness, associated with EVA and without any evidence of syndromic disease. Among patients with SLC26A4 biallelic mutations, deafness was more severe, fluctuated more than in patients with no mutation. In conclusion, the incidence of SLC26A4 mutations is high in patients with isolated deafness and enlarged vestibular aqueduct and could represent up to 4% of nonsyndromic hearing impairment. SLC26A4 could be the second most frequent gene implicated in nonsyndromic deafness after GJB2, in this Caucasian population.

Published
2006
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