12 results on '"Gicquel C"'
Search Results
2. Mission Tara Microplastics: a holistic set of protocols and data resources for the field investigation of plastic pollution along the land-sea continuum in Europe
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Ghiglione, Jean-François, Barbe, Valérie, Bruzaud, Stéphane, Burgaud, Gaëtan, Cachot, Jérôme, Eyheraguibel, Boris, Lartaud, Franck, Ludwig, Wolfgang, Meistertzheim, Anne-Leila, Paul-Pont, Ika, Pesant, Stéphane, ter Halle, Alexandra, Thiebeauld, Odon, Ghiglione, J., Philip, L., Odobel, C., Pandin, C., Pujo-Pay, M., Conan, P., Luckas, N., Barbe, V., Wincker, P., Bruzaud, S., Kedzierski, M., Palazot, M., Soccalingame, L., Burgaud, G., Philippe, A., Cachot, J., Morin, B., Dusacre, E., Clérandeau, C., Lefebvre, C., Eyheraguibel, B., Lartaud, F., Ludwig, W., de Madron, X. Durrieu, Weiss, L., Meistertzheim, A., Calves, I., Lebaron, K., Lavergne, E., Paul-Pont, I., Huvet, A., Dubreuil, C., Pesant, S., ter Halle, A., Albignac, M., Thiebeauld, O., Crenn, K., Gassane, T., Merakeb, L., Bauvois, C., Galgani, F., Gerigny, O., Pedrotti, M., Gorsky, G., Lombard, F., Alligant, S., Lacroix, C., Navarro, L., Sperandio, B., Diémé, B., Bowler, C., Troublé, R., Hentinger, R., Abreu, A., Thomas, M., Bourdreux, M., Schramm, J., Moulin, C., Bernollin, E., Hertau, M., Audrain, S., Bin, N., Tournon, Y., Boulon, L., Aurat, F., Blijdorp, L., Pire, C., Bin, S., Gicquel, C., Oriot, M., Genoscope - Centre national de séquençage [Evry] (GENOSCOPE), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Laboratoire d'Ingénierie des Matériaux de Bretagne (LIMATB), Université de Bretagne Sud (UBS)-Université de Brest (UBO)-Institut Brestois du Numérique et des Mathématiques (IBNM), Université de Brest (UBO)-Université de Brest (UBO), Laboratoire Universitaire de Biodiversité et Ecologie Microbienne (LUBEM), Université de Brest (UBO), Environnements et Paléoenvironnements OCéaniques (EPOC), Observatoire aquitain des sciences de l'univers (OASU), Université Sciences et Technologies - Bordeaux 1 (UB)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université Sciences et Technologies - Bordeaux 1 (UB)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Ecogéochimie des environnements benthiques (LECOB), Observatoire océanologique de Banyuls (OOB), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), European Synchrotron Radiation Facility (ESRF), Centre de formation et de recherche sur l'environnement marin (CEFREM), Université de Perpignan Via Domitia (UPVD)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'océanographie de Villefranche (LOV), Institut national des sciences de l'Univers (INSU - CNRS)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de la Mer de Villefranche (IMEV), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Interactions moléculaires et réactivité chimique et photochimique (IMRCP), Institut de Chimie de Toulouse (ICT), Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Institut Ecologie et Environnement (INEE), Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Fédération de Recherche Fluides, Energie, Réacteurs, Matériaux et Transferts (FERMAT), Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Université de Toulouse (UT)-Institut National des Sciences Appliquées (INSA)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Université de Toulouse (UT)-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), SMODD - Systèmes Moléculaires Organisés et Développement Durable (SMODD), Institut National des Sciences Appliquées (INSA)-Université de Toulouse (UT)-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie de Toulouse (ICT), Institut de biologie moléculaire des plantes (IBMP), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Océanographie Microbienne (LOMIC), Institut national des sciences de l'Univers (INSU - CNRS)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Observatoire océanologique de Banyuls (OOB), and Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)
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[CHIM]Chemical Sciences - Abstract
The Tara Microplastics mission was conducted for 7 months to investigate plastic pollution along nine major rivers in Europe—Thames, Elbe, Rhine, Seine, Loire, Garonne, Ebro, Rhone, and Tiber. An extensive suite of sampling protocols was applied at four to five sites on each river along a salinity gradient from the sea and the outer estuary to downstream and upstream of the first heavily populated city. Biophysicochemical parameters including salinity, temperature, irradiance, particulate matter, large and small microplastics (MPs) concentration and composition, prokaryote and microeukaryote richness, and diversity on MPs and in the surrounding waters were routinely measured onboard the French research vessel Tara or from a semi-rigid boat in shallow waters. In addition, macroplastic and microplastic concentrations and composition were determined on river banks and beaches. Finally, cages containing either pristine pieces of plastics in the form of films or granules, and others containing mussels were immersed at each sampling site, 1 month prior to sampling in order to study the metabolic activity of the plastisphere by meta-OMICS and to run toxicity tests and pollutants analyses. Here, we fully described the holistic set of protocols designed for the Mission Tara Microplastics and promoted standard procedures to achieve its ambitious goals: (1) compare traits of plastic pollution among European rivers, (2) provide a baseline of the state of plastic pollution in the Anthropocene, (3) predict their evolution in the frame of the current European initiatives, (4) shed light on the toxicological effects of plastic on aquatic life, (5) model the transport of microplastics from land towards the sea, and (6) investigate the potential impact of pathogen or invasive species rafting on drifting plastics from the land to the sea through riverine systems.
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- 2023
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3. Multi-product valid inequalities for the discrete lot-sizing and scheduling problem
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Gicquel, C. and Minoux, M.
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- 2015
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4. 3PC-005 A new packaging of hypertonic solution to overcome an unavailable formulation in france
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Gicquel, C, primary, Vandewoestyne, S, additional, Semely, D, additional, Ramjaun, Z, additional, and Tafani, M, additional
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- 2018
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5. The labour market, psychosocial outcomes and health conditions in cancer survivors: protocol for a nationwide longitudinal survey 2 and 5 years after cancer diagnosis (the VICAN survey)
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Bouhnik, A., Bendiane, M., Cortaredona, S., Sagaon Teyssier, L., Rey, D., BERENGER, C., Seror, V., Peretti-Watel, P., Aparicio, T., Babin, E., Beck, F., Benamouzig, R., Bessette, D., Bousquet, P., Cabanel-Gicquel, C., Cavallini-Lambert, M., Chantry, M., Chauvet, C., Danguy, V., Dorval, M., Herbet, B., Huiart, L., Joutard, X., Le Corroller-Soriano, A., Mancini, J., Meresse, M., Morere, F., Nabi, H., Paraponaris, A., Préau, M., Protière, C., Retornaze, F., Riandey, B., Sagaon-Teyssier, L., Tison, A., Singh-Manoux, A., Thieblemont, C., Verger, P., Vecteurs - Infections tropicales et méditerranéennes (VITROME), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut de Recherche Biomédicale des Armées (IRBA), Laboratoire d'Ecologie Alpine (LECA), Centre National de la Recherche Scientifique (CNRS)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Université Joseph Fourier - Grenoble 1 (UJF)-Université Grenoble Alpes (UGA), Service d'hépato-gastro-entérologie [Hôpital Saint-Louis], Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Service d'Oto-Rhino-Laryngologie (O.R.L.) et de Chirurgie Cervico-Faciale [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre de Recherche en Nutrition Humaine, Laboratoire d'Enseignement et de Recherche sur le Traitement de l'Information Médicale (LERTIM), Université de la Méditerranée - Aix-Marseille 2, Groupe de Recherche en Psychologie Sociale (GRePS), Université Lumière - Lyon 2 (UL2), Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U912 INSERM - Aix Marseille Univ - IRD), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche en épidémiologie et santé des populations (CESP), Hôpital Paul Brousse-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Hôpital Saint-Louis, Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Observatoire régional de la santé, Université Joseph Fourier - Grenoble 1 (UJF)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Recherche pour le Développement (IRD)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Joseph Fourier - Grenoble 1 (UJF)-Centre National de la Recherche Scientifique (CNRS)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut de Recherche Biomédicale des Armées [Brétigny-sur-Orge] (IRBA), and Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)
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Male ,Gerontology ,Research design ,Databases, Factual ,Health Status ,[SHS.PSY]Humanities and Social Sciences/Psychology ,Social medicine ,Neoplasms ,Protocol ,Medicine ,Longitudinal Studies ,Survivors ,Reimbursement ,ComputingMilieux_MISCELLANEOUS ,Aged, 80 and over ,Age Factors ,General Medicine ,Middle Aged ,[SHS.ECO]Humanities and Social Sciences/Economics and Finance ,Patient Discharge ,3. Good health ,Health ,Research Design ,Female ,France ,Public Health ,Psychosocial ,SOCIAL MEDICINE ,Adult ,Employment ,medicine.medical_specialty ,Adolescent ,Interviews as Topic ,Young Adult ,Quality of life (healthcare) ,Physicians ,Humans ,Aged ,Health Services Needs and Demand ,Insurance, Health ,Data collection ,business.industry ,Public health ,Cancer ,ONCOLOGY ,medicine.disease ,Quality of Life ,business - Abstract
Introduction Today, a growing need exists for greater research into cancer survivorship, focusing on different spheres of the day-to-day life of diagnosed patients. This article describes the design and implementation of VICAN (VIe apres le CANcer), a national survey on French cancer survivors. Method and analysis The target population included patients aged 18–82, diagnosed with cancer between January and June 2010, and registered in one of the three main French Health Insurance Schemes. It was restricted to 12 tumour sites. Sampling was stratified using a non-proportional allocation, based on age at diagnosis (18–52 and 53–82) and tumour site. Data were collected from telephone interviews with patients 2 and 5 years after diagnosis, a medical survey completed by the physician who initiated cancer treatment, and information from the national medicoadministrative database on reimbursement data and hospital discharge records. First data collection, 2 years after diagnosis, occurred between March and December 2012. Second data collection, 5 years after diagnosis, will be conducted in 2015. Analyses will be conducted on various outcomes: quality of life, health status and psychosocial conditions, with a particular focus on the impact of cancer diagnosis on the labour market. The variety of measurements included in the survey will enable us to control a wide range of factors. Ethics and dissemination The methodology of the VICAN survey was approved by three national ethics commissions. Results of the study will be disseminated through national and international research conferences, and in articles published in international peer-reviewed journals.
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- 2015
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6. FLASH-RAS–état des lieux des tests RAS chez des patients atteints d’un cancer colorectal métastatique en 2014
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Merlin, J.-L., primary, Lièvre, A., additional, Laurent-Puig, P., additional, Ducreux, M., additional, Artru, P., additional, Fuchs, J., additional, Gicquel, C., additional, and Sabourin, J.-C., additional
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- 2016
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7. 420 Flash RAS study: RAS testing assessment in patients with metastatic colorectal cancer in 2014
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Lievre, A., primary, Merlin, J.L., additional, Laurent-Puig, P., additional, Artru, P., additional, Seronde, A., additional, Gicquel, C., additional, Sabourin, J.C., additional, and Ducreux, M., additional
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- 2015
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8. 3PC-005 A new packaging of hypertonic solution to overcome an unavailable formulation in france
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Gicquel, C, Vandewoestyne, S, Semely, D, Ramjaun, Z, and Tafani, M
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BackgroundMannitol is considered the gold standard hyperosmolar agent to decrease intracranial pressure (ICP) after traumatic brain injury. However, solutions of mannitol may crystallise when exposed to low temperatures, for example at high altitude or during helicopter rescues. If crystals are observed, the container should be warmed, shaken and then cooled to body temperature before administration which is inappropriate in daily emergency practice. Several studies show that hypertonic saline solution (HTSS) is comparable or potentially superior to mannitol: furthermore HTSS might have less adverse effect than mannitol and does not crystallise with low temperature. HTSS only exists in 500 mL glass vials, unfit for emergency practices which need compact unbreakable packaging.PurposeTo provide for emergency practices a ready-to-use HTSS of 7.5% sodium chloride infusion bag.Material and methodsInfusion bags were produced by aseptic process using the BAXA®EM2400 compounder. Ingredients used were sterile sodium chloride 20% (AGEPS®) and water for injectable preparation (Bbraun®) filled in an ethyl vinyl acetate infusion bag of 100 ml. Bags were stored at room temperature without light protection. Microbiological stability was assessed by performing sterility and endotoxin tests. The physicochemical study was performed by determining visual aspect, osmolality, sodium and chloride concentration at 0, 30 and 90 days.ResultsNeither precipitate nor any change in colour was observed after 90 days. Ion concentrations remained unchanged with 1320 mM (+3%); 1290 mM (+1%); 1240 mM (−3%) and osmolality of the HTSS were found to be 2560 mosm/L (0%); 2420 (-6%); and 2350 mosm/L (9%) respectively at 0, 30 and 90 days. At each time point, all microbiological results were negative.ConclusionThe automated compounding ensures quality and safety of production for a ready-to-use HTSS of 7.5% sodium chloride with a best-before-date of 90 days. The stability study is still on-going.Reference and/or Acknowledgements1. Helmy A, Vizcaychipi M, Gupta AK: Traumatic brain injury: intensive care management. Br J Anaesth, 2007; 99: 32–42.No conflict of interest
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- 2018
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9. Generation of synthetic FTIR spectra to facilitate chemical identification of microplastics.
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Gicquel C, Bruzaud S, and Kedzierski M
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- Spectroscopy, Fourier Transform Infrared, Machine Learning, Microplastics analysis, Environmental Monitoring methods, Water Pollutants, Chemical analysis
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In a context where learning databases of microplastic FTIR spectra are often incomplete, the objective of our work was to test whether a synthetic data generation method could be relevant to fill the gaps. To this end, synthetic spectra were generated to create new databases. The effectiveness of machine learning from these databases was then tested and compared with previous results. The results showed that the creation of synthetic learning databases could avoid, to a certain extent, the need for learning databases of environmental microplastics FTIR spectra. However, some limitations were encountered, for example, when two different chemical classes had very similar reference spectra or when the intensities of the bands associated with fouling became too intense. The FTIR study of the ageing and fouling of microplastics in the natural environment is one of the identified ways that could further improve this approach., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024. Published by Elsevier Ltd.)
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- 2024
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10. RAS mutation testing in patients with metastatic colorectal cancer in French clinical practice: A status report in 2014.
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Lièvre A, Merlin JL, Sabourin JC, Artru P, Tong S, Libert L, Audhuy F, Gicquel C, Moureau-Zabotto L, Ossendza RA, Laurent-Puig P, and Ducreux M
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- Adult, Aged, Antibodies, Monoclonal therapeutic use, Antineoplastic Agents, Immunological therapeutic use, Colorectal Neoplasms drug therapy, Colorectal Neoplasms pathology, DNA Mutational Analysis methods, ErbB Receptors antagonists & inhibitors, Female, France, Genotype, Humans, Male, Middle Aged, Molecular Targeted Therapy, Neoplasm Metastasis, Practice Patterns, Physicians' statistics & numerical data, Retrospective Studies, Colorectal Neoplasms genetics, DNA Mutational Analysis statistics & numerical data, GTP Phosphohydrolases genetics, Genes, ras genetics, Genetic Testing statistics & numerical data, Membrane Proteins genetics, Proto-Oncogene Proteins p21(ras) genetics
- Abstract
Background: RAS (NRAS + KRAS) mutation testing is required in addition to simple KRAS testing prior to initiating anti-epidermal-growth-factor-receptor (EGFR) antibodies (MAb) as in metastatic colorectal cancer (mCRC)., Aims: To assess prescription and implementation rates of RAS/KRAS mutation testing. To describe the RAS/KRAS mutation test procedure and its impact on therapeutic strategy., Patients and Methods: Observational retrospective study conducted from June to September 2014 in all consecutive patients with newly diagnosed mCRC., Results: Data from 375 patients (male: 57.8%; mean age, 65.7 ± 11.7 years) were analysed. RAS/KRAS mutation testing was prescribed in 90.1% of patients (338/375). The test was prescribed within 1 month around mCRC diagnosis and prior to first-line therapy in 73.1% (242/331) and 85.4% (280/328) of patients, respectively. Time from test request to receipt of results was 24.6 ± 17.2 days. 59.7% of patients (190/318) had a mutation, mainly KRAS (47.9%; 152/317). Anti-EGFR MAb was prescribed in 90.9% of RAS-wild-type cases (60/66), consistent with the goal of genotyping-testing in this population., Conclusion: In 2014, RAS genotyping-testing in addition to KRAS testing was routinely prescribed and performed in mCRC patients in France. Time to receive results remains long and must be reduced so as to match clinical practice., (Copyright © 2018 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.)
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- 2018
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11. Duloxetine and gingival bleeding: a case-report and reviews of the French and World PharmacoVigilance Databases and literature.
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Gicquel C, Moulis F, Chenaf C, Gouraud A, Drici M, Bondon-Guitton E, Montastruc F, and Montastruc JL
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- Adult, Adverse Drug Reaction Reporting Systems, Databases, Factual, Female, Fibromyalgia drug therapy, Humans, Analgesics adverse effects, Antidepressive Agents adverse effects, Duloxetine Hydrochloride adverse effects, Gingival Hemorrhage chemically induced, Serotonin and Noradrenaline Reuptake Inhibitors adverse effects
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- 2017
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12. Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.
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Abi Habib W, Azzi S, Brioude F, Steunou V, Thibaud N, Das Neves C, Le Jule M, Chantot-Bastaraud S, Keren B, Lyonnet S, Michot C, Rossi M, Pasquier L, Gicquel C, Rossignol S, Le Bouc Y, and Netchine I
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- Base Sequence, Beckwith-Wiedemann Syndrome diagnosis, Binding Sites, Case-Control Studies, Chromosomes, Human, Pair 11, Female, Gene Frequency, Heterozygote, Humans, Male, Mutation, Nucleotide Motifs, Pedigree, Phenotype, Sequence Deletion, Beckwith-Wiedemann Syndrome genetics, Beckwith-Wiedemann Syndrome metabolism, DNA Methylation, Genomic Imprinting, Insulin-Like Growth Factor II genetics, Octamer Transcription Factor-3 metabolism, RNA, Long Noncoding genetics, SOXB1 Transcription Factors metabolism
- Abstract
Isolated gain of methylation (GOM) at the IGF2/H19 imprinting control region 1 (ICR1) accounts for about 10% of patients with BWS. A subset of these patients have genetic defects within ICR1, but the frequency of these defects has not yet been established in a large cohort of BWS patients with isolated ICR1 GOM. Here, we carried out a genetic analysis in a large cohort of 57 BWS patients with isolated ICR1 GOM and analyzed the methylation status of the entire domain. We found a new point mutation in two unrelated families and a 21 bp deletion in another unrelated child, both of which were maternally inherited and affected the OCT4/SOX2 binding site in the A2 repeat of ICR1. Based on data from this and previous studies, we estimate that cis genetic defects account for about 20% of BWS patients with isolated ICR1 GOM. Methylation analysis at eight loci of the IGF2/H19 domain revealed that sites surrounding OCT4/SOX2 binding site mutations were fully methylated and methylation indexes declined as a function of distance from these sites. This was not the case in BWS patients without genetic defects identified. Thus, GOM does not spread uniformly across the IGF2/H19 domain, suggesting that OCT4/SOX2 protects against methylation at local sites. These findings add new insights to the mechanism of the regulation of the ICR1 domain. Our data show that mutations and deletions within ICR1 are relatively common. Systematic identification is therefore necessary to establish appropriate genetic counseling for BWS patients with isolated ICR1 GOM., (© The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)
- Published
- 2014
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