{"id":2226,"date":"2022-10-11T12:16:59","date_gmt":"2022-10-11T10:16:59","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=events&#038;p=2226"},"modified":"2022-10-11T12:17:57","modified_gmt":"2022-10-11T10:17:57","slug":"multidisciplinary-fetal-diagnostics-winter-school","status":"publish","type":"events","link":"https:\/\/ern-ithaca.eu\/it\/events-news\/upcoming-events\/multidisciplinary-fetal-diagnostics-winter-school\/","title":{"rendered":"Multidisciplinary Fetal Diagnostics Winter School"},"content":{"rendered":"<h2 class=\"wp-block-heading\">Contenuto<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">La Winter School sulla diagnosi fetale, organizzata dal ERN-ITHACA, mira a colmare una lacuna formativa in materia di fenotipizzazione fetale, analisi genetica e interpretazione dei dati. Si tratta di un corso della durata di un giorno che comprender\u00e0 lezioni di base e workshop approfonditi sulla fenotipizzazione, sui test genomici prenatali e sulle implicazioni per la consulenza genetica. A conclusione, il programma metter\u00e0 in relazione i diversi ambiti trattati attraverso discussioni interdisciplinari sui casi clinici.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Il corso \u00e8 rivolto a specialisti e specializzandi nei settori della genetica clinica e di laboratorio, della bioinformatica, dell\u2019ostetricia e della patologia, con particolare interesse per la medicina prenatale.<br>Il programma riunisce eccellenti ricercatori provenienti dalle istituzioni affiliate al ITHACA e dai partner collaboratori nei settori della medicina fetale e materna, dell\u2019imaging fetale, della patologia fetale e della genetica umana, affinch\u00e9 i partecipanti possano trarre il massimo beneficio da questa vasta esperienza.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The Winter School is adjunct to the \u201cBest of\u201d annual meeting of the French Society of Fetal pathology (SoFFoet &#8211; <a href=\"http:\/\/soffoet.fr\/\">http:\/\/soffoet.fr\/<\/a>) on Wednesday 07th December and students are invited also to join.<\/p>\n\n\n\n<div style=\"height:32px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Principali argomenti trattati<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">This first course provides an overview of the subject matter and methodological principles in the complex field of prenatal medicine. It includes an introduction to HPO and its application on fetal phenotypes, opportunities and limitations of fetal imaging and fetal pathology as well as prenatal clinical genetics in the area of genomic medicine.<\/p>\n\n\n\n<div style=\"height:32px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Risultati di apprendimento<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Gli studenti impareranno a gestire:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Le possibilit\u00e0 offerte oggi dalla fenotipizzazione fetale approfondita<\/li><li>La complessit\u00e0 delle indagini genetiche sui fenotipi perinatali<\/li><li>Interpreting genomic results in fetal medicine<\/li><li>Importance of interdisciplinary work for family counselling<\/li><\/ul>\n\n\n\n<div style=\"height:32px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Dettagli pratici<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Format: Physical&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Dates: (07) &#8211; <strong>08 December 2022<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Location: Imagine Institute, Paris, France&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Lingua: inglese<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Carico di lavoro degli studenti: 15 ore<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Ore di lezione: 8<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Numero massimo di partecipanti: 60<\/p>\n\n\n\n<div style=\"height:32px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Get together on 07<sup>th<\/sup> of December at 6pm CET<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">The course takes place on 08<sup>th<\/sup> of December from 9am to 5pm CET<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">For further information or if you have any questions, please send an e-mail to: <a href=\"mailto:klea.vyshka@aphp.fr\"><strong>klea.vyshka@aphp.fr<\/strong><\/a><\/p>\n\n\n\n<div style=\"height:32px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Programma<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Il corso consister\u00e0 in una combinazione di lezioni frontali tradizionali selezionate, laboratori e esercitazioni.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>&#8211; 07<sup>th<\/sup> of December<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">SOFFOET meeting (SoFFoet &#8211; http:\/\/soffoet.fr\/) \u2013 from 09.30 am \u2013 05.30 pm. To apply please fill in the form here: <a href=\"https:\/\/forms.gle\/1wWbVKHfn7agMVJp9\">https:\/\/forms.gle\/1wWbVKHfn7agMVJp9<\/a> before the 15th of November 2022.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Evening (06 pm):<strong> <\/strong>Welcome address by the Faculty members with buffet<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>&#8211; 08<sup>th<\/sup> of December<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><em>Morning Session 1 &#8211; Lectures &#8211; Main Auditorium<\/em><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The first session&nbsp;will include lectures on the main focuses of the course and give a state-of-the-art overview for the topics in preparation of the workshops.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Introduction to HPO &#8211; Peter Robinson<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Fetal imaging in the first and second trimester &#8211; Karl Oliver Kagan<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Fetal Pathology: the deepest fetal phenotyping &#8211; Sophie Collardeau-Frachon<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Prenatal Clinical Genetics &#8211; Isabel Filges<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><em>Morning Session 2 \u2013&nbsp;Concurrent Workshops &#8211; Master classes \/ (Please select when applying):<\/em><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Concurrent workshops are dedicated to deepen the focus for participants with solid basic knowledge using practical exercises \/ case studies<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a><\/a><a>\u201cHPO and related diagnostic tools\u201d <\/a>(Peter Robinson):<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Participants will learn how to use the Human Phenotype Ontology (HPO) to represent clinical findings for differential diagnosis. We will use two freely available online tools \u2013 the Phenomizer for differential diagnosis and the Exomiser for HPO-based prioritization of variants in exome or genome sequencing. Laptops are required. Main audience: Geneticists<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a>\u201cFrom imaging to diagnosis\u201d (Karl Oliver Kagan and geneticist)<\/a>:<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Participants will learn about ultrasound markers for chromosomal abnormalities and genetic defects and the appropriate method of clarification.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Main audience: MFM specialists in training<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a>\u201cFetal syndromology: don\u2019t miss it!\u201d (Robert Debr\u00e9 Team<\/a> \u2013 Fabien Guimiot, Suonavy Khung, Marie-H\u00e9l\u00e8ne Saint Frison):<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Participants will learn the benefice and input of fetal pathology for the diagnosis of genetic disorders. Case discussion will allow to point specific signs that should not be missed in selected conditions.&nbsp;<br>Main audience: Pathologists, Fetal Pathologists in training<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><em>Afternoon Session 1 + 2 &#8211;&nbsp;Workshops<\/em><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">I workshop hanno lo scopo di fornire una comprensione delle specializzazioni rispetto alle altre discipline attraverso esercitazioni pratiche e casi di studio basati sulle lezioni introduttive.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The focus of each workshop is designed to match the expertise of the participants in each of the other masterclasses.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u201cHow to use HPO\u201d (Peter Robinson):<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The participants will learn to convert clinical descriptions into HPO terms.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u201cFrom imaging to diagnosis\u201d (Karl Oliver Kagan and geneticist):<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The participants will learn about the interaction between the fetal medicine experts and the geneticists.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u201cWhy fetal pathology is important\u201d (Tania Atti\u00e9-Bitach &amp; Isabel Filges):&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;<br>With interactive case discussions and active participation from the audience, the participants will learn what fetal pathology can bring as compared to prenatal imaging, how it can orient the diagnosis, help genetic interpretation of variants, and contribute to the description of prenatal signs or rare disorders.<\/p>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"1012\" height=\"570\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/10\/image.png\" alt=\"\" class=\"wp-image-2227\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/10\/image.png 1012w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/10\/image-600x338.png 600w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/10\/image-768x433.png 768w\" sizes=\"auto, (max-width: 1012px) 100vw, 1012px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><em>Evening Session \u2013&nbsp;Use Case Discussion \/ Case presentation (Main Auditorium):<\/em><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The faculty together with the participants will discuss selected submitted cases.<\/p>\n\n\n\n<div style=\"height:32px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Procedura di candidatura<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Applicants should fill in the&nbsp;application form for the Winter School here: <a href=\"https:\/\/forms.office.com\/r\/hvzHxsrnCN\">https:\/\/forms.office.com\/r\/hvzHxsrnCN<\/a>. The application deadline is <strong>October 31, 2022<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Selected students will be notified by <strong>November 05, 2022.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">This course&nbsp;will be held at Imagine Institute (<a href=\"https:\/\/www.institutimagine.org\/fr\">https:\/\/www.institutimagine.org\/fr<\/a>). Participating students might be asked to provide COVID-19 immunization proof when entering the location depending on the regulations in force in December.<\/p>\n\n\n\n<div style=\"height:32px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Viaggio, alloggio e spese<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Participants are expected to organise their own travel and accommodation. A limited number of scholarships is available only for participants whose employing institution cannot cover these costs (please see the application form to the Winter School for more information). The participation to the course is free of charge.<\/p>\n\n\n\n<div style=\"height:32px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Corpo docente<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Tania Attie-Bitach &#8211; Department of Genomics of Rare Diseases, Necker-Enfants Malades University Hospital, Paris<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Sophie Collardeau-Frachon&nbsp;&#8211; Department of Pathology, Claude Bernard University Hospital, Lyon<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Andreas Dufke &#8211; Institute of Medical Genetics and Applied Genomics, University Hospital, T\u00fcbingen<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Isabel Filges &#8211; Medical Genetics, University Hospital Basel and University of Basel<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Fabien Guimiot &#8211; Fetal Pathology Unit, Department of Genetics, Robert Debr\u00e9 University Hospital, Paris<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Karl Kagan &#8211; Women University Hospital, T\u00fcbingen<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Suonavy Khung &#8211; Fetal Pathology Unit, Department of Genetics, Robert Debr\u00e9 University Hospital, Paris<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Peter Robinson &#8211; The Jackson Laboratory for Genomic Medicine, Farmington<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Marie-H\u00e9l\u00e8ne Saint Frison &#8211; Fetal Pathology Unit, Department of Genetics, Robert Debr\u00e9 University Hospital, Paris<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Gijs Santen \u2013 Centro medico universitario di Leida, Leida<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Klea Vyshka \u2013 Responsabile di progetto e addetta agli affari legali ERN ITHACA, Dipartimento di Genetica Clinica, Ospedale Universitario Robert Debr\u00e9, Parigi<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>","protected":false},"featured_media":0,"template":"","categories":[],"tags":[],"class_list":["post-2226","events","type-events","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Multidisciplinary Fetal Diagnostics Winter School - ERN ITHACA<\/title>\n<meta name=\"robots\" content=\"noindex, follow\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Multidisciplinary Fetal Diagnostics Winter School - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Content The Winter School on Fetal Diagnosis organised by the ERN-ITHACA aims to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation. As a single-day course it will include basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications for genetic counselling. To finalize, the program will bridge the [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ern-ithaca.eu\/it\/events\/upcoming-events\/multidisciplinary-fetal-diagnostics-winter-school\/\" \/>\n<meta property=\"og:site_name\" content=\"ERN ITHACA\" \/>\n<meta property=\"article:modified_time\" content=\"2022-10-11T10:17:57+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/10\/image.png\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:site\" content=\"@ERNIthaca\" \/>\n<meta name=\"twitter:label1\" content=\"Tempo di lettura stimato\" \/>\n\t<meta name=\"twitter:data1\" content=\"5 minuti\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/events\\\/upcoming-events\\\/multidisciplinary-fetal-diagnostics-winter-school\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/events\\\/upcoming-events\\\/multidisciplinary-fetal-diagnostics-winter-school\\\/\",\"name\":\"Multidisciplinary Fetal Diagnostics Winter School - ERN ITHACA\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/events\\\/upcoming-events\\\/multidisciplinary-fetal-diagnostics-winter-school\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/events\\\/upcoming-events\\\/multidisciplinary-fetal-diagnostics-winter-school\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/10\\\/image.png\",\"datePublished\":\"2022-10-11T10:16:59+00:00\",\"dateModified\":\"2022-10-11T10:17:57+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/events\\\/upcoming-events\\\/multidisciplinary-fetal-diagnostics-winter-school\\\/#breadcrumb\"},\"inLanguage\":\"it-IT\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/ern-ithaca.eu\\\/events\\\/upcoming-events\\\/multidisciplinary-fetal-diagnostics-winter-school\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"it-IT\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/events\\\/upcoming-events\\\/multidisciplinary-fetal-diagnostics-winter-school\\\/#primaryimage\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/10\\\/image.png\",\"contentUrl\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/10\\\/image.png\"},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/events\\\/upcoming-events\\\/multidisciplinary-fetal-diagnostics-winter-school\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"events > upcoming events\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/events\\\/upcoming-events\\\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"Multidisciplinary Fetal Diagnostics Winter School\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#website\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/\",\"name\":\"ERN ITHACA\",\"description\":\"WELCOME TO ERN-ITHACA WEBSITE!\",\"publisher\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/ern-ithaca.eu\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"it-IT\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#organization\",\"name\":\"ERN-ITHACA\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"it-IT\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Logo-ERN-ITHACA.jpg\",\"contentUrl\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Logo-ERN-ITHACA.jpg\",\"width\":454,\"height\":172,\"caption\":\"ERN-ITHACA\"},\"image\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#\\\/schema\\\/logo\\\/image\\\/\"},\"sameAs\":[\"https:\\\/\\\/x.com\\\/ERNIthaca\",\"https:\\\/\\\/www.linkedin.com\\\/company\\\/ithaca-european-reference-network-on-congenital-malformations-ans-rare-intellectual-disability\\\/?viewAsMember=true\"]}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Multidisciplinary Fetal Diagnostics Winter School - ERN ITHACA","robots":{"index":"noindex","follow":"follow"},"og_locale":"it_IT","og_type":"article","og_title":"Multidisciplinary Fetal Diagnostics Winter School - ERN ITHACA","og_description":"Content The Winter School on Fetal Diagnosis organised by the ERN-ITHACA aims to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation. 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