{"id":16416,"date":"2024-09-26T12:51:47","date_gmt":"2024-09-26T10:51:47","guid":{"rendered":"https:\/\/jurmed.ro\/medici\/?p=16416"},"modified":"2024-09-26T12:51:47","modified_gmt":"2024-09-26T10:51:47","slug":"romania-in-urma-europei-doar-3-boli-incluse-in-programul-screeningul-neonatal","status":"publish","type":"post","link":"https:\/\/jurmed.ro\/medici\/romania-in-urma-europei-doar-3-boli-incluse-in-programul-screeningul-neonatal\/","title":{"rendered":"Romania in urma Europei &#8211; doar 3 boli incluse in programul de screeningul neonatal"},"content":{"rendered":"<p>Este luna de constientizare privind screeningul neonatal. Niciun copil nu ar trebui sa fie lipsit de sansa de a fi trecut prin screening pentru a-i fi depistate eventuale boli cat mai devreme cu putinta! Screeningul neonatal si oncologic reprezinta piloni esentiali pentru sanatatea publica si prevenirea bolilor grave in Romania. Specialistii din domeniul medical subliniaza necesitatea extinderii acestor programe de screening, atat pentru alinierea la standardele europene, cat si pentru a asigura o mai buna sanatate pentru copiii si populatia adulta din tara noastra.<\/p>\n<p>Tarile europene au inregistrat ritmuri diferite in programele lor nationale de screening neonatal. Numarul de afectiuni incluse in programele nationale de screening pentru nou-nascuti variaza in functie de tara, de exemplu in Irlanda pentru 8 afectiuni, Marea Britanie 11 afectiuni, Germania 17 afectiuni, Franta 14, Polonia 30 de afectiuni, Olanda, Belgia si Luxemburg 22 de afectiuni, Ungaria 26 de afectiuni, Slovacia 23 si Italia 48 de afectiuni. <strong>Romania face screening neonatal doar pentru<\/strong> <strong>trei boli rare<\/strong> hipotiroidism congenital, fenilcetonurie si fibroza chistica. In prezent, se deruleaza in Romania un un proiect de extindere a screeningului neonatal pentru bolile metabolice rare la Cluj, la Universitatea de Medicina si Farmacie din Cluj, si exista un proiect pilot pentru pacientii cu SMA la Spitalul Romanescu din Bucuresti.<\/p>\n<p><strong>Screeningul neonatal<\/strong> joaca un rol crucial in identificarea precoce a unor boli genetice rare, oferind copiilor sansa la o viata sanatoasa. In Romania, programul national de screening pentru hipotiroidism si fenilcetonurie a inceput in 2009 si s-a extins treptat. Specialistii atrag atentia asupra necesitatii de a continua dezvoltarea acestui program, incluzand tot mai multe afectiuni genetice in diagnosticarea timpurie. <em>&#8222;Fiecare copil are dreptul la o sansa egala in viata, iar screening-ul neonatal reprezinta o componenta vitala in asigurarea acestui drept&#8221;<\/em>, a declarat <strong>Ungur Maria Andreea<\/strong>, farmacist specialist Farmacie Clinic\u01ce, UMF Cluj- Centrul de Cercetare pentru Medicin\u01ce Avansat\u01ce MedFuture, Laborator MetaboMS. Prin unitatea de screening neonatal METABOMS si serviciul de screening extins, Romania isi doreste sa contribuie la cresterea calitatii vietii celor mai tineri cetateni.<\/p>\n<p><strong>Screeningul oncologic<\/strong> este un alt element esential in preventia si depistarea timpurie a cancerului. Identificarea stadiilor incipiente ale bolilor oncologice poate salva vieti si reduce semnificativ povara tratamentelor invazive. <em>&#8222;Principiile screeningului oncologic sunt diferite de cele ale screeningului neonatal si trebuie adaptate in functie de tipul de cancer, varsta, antecedente familiale si stil de viata<\/em>&#8222;, subliniaza <strong>Prof. Dr. Maria Puiu<\/strong>, Presedinta Consiliului National pentru Bolile Rare, Presedinta Comisiei de Genetica Medicala a MS. Extinderea acestor programe, care surprind afectiuni in stadii precanceroase sau incipiente, este un pas important in optimizarea preventiei oncologice.<\/p>\n<p><strong>Preventia si educatia publica<\/strong> raman prioritati majore in cadrul unui sistem de sanatate care poate sa nu fie intotdeauna performant. <strong>Radu Ganescu<\/strong>, Presedintele COPAC, atrage atentia asupra responsabilitatii cetatenilor in raport cu sistemul de sanatate: <em>&#8222;Avem nevoie sa punem accent pe importanta preventiei si rolul esential pe care il joaca in accesul nostru la servicii medicale&#8221;<\/em>. Screeningul ramane una dintre cele mai eficiente metode de prevenire a bolilor si de imbunatatire a calitatii vietii.<\/p>\n<p>In acest context, <strong>Alianta Nationala pentru Boli Rare Romania<\/strong> si <strong>Asociatia Romana de Cancere Rare<\/strong> organizeaza al patrulea webinar din seria <strong>Share Experience 2024<\/strong>, intitulat <strong>\u201eScreeningul neonatal, bolile oncologice si testarea genetica\u201d<\/strong>. Acest eveniment isi propune sa abordeze provocarile legate de accesul limitat la tratamente esentiale pentru pacientii din Romania, subliniind importanta unui suport coordonat si a unei colaborari eficiente intre profesionistii din domeniul sanatatii si pacienti.<\/p>\n<p>Invitati la acest webinar au fost: <strong>Prof. Dr. Maria Puiu<\/strong> &#8211; Presedinta Consiliului National pentru Bolile Rare, Presedinta Comisiei de Genetica Medicala a MS, <strong>Ungur Maria Andreea<\/strong> &#8211; farmacist specialist Farmacie Clinic\u01ce, UMF Cluj- Centrul de Cercetare pentru Medicin\u01ce Avansat\u01ce MedFuture, Laborator MetaboMS, <strong>Delia Corina<\/strong> &#8211; biochimist INSMC, <strong>Valentina Donici<\/strong>&#8211; Coordonator UATM PN XIII INSMC si <strong>Florentina Moldovanu<\/strong> \u2013 Medic primar pediatrie, coordonator in Programul National de Sanatate de screening neonatal pentru depistarea fenilcetonuriei INSMC, <strong>Radu Ganescu<\/strong> &#8211; Presedinte COPAC si <strong>Lacramioara Vinter<\/strong> &#8211; Vicepresedinta PKU Life Romania.<\/p>\n<p>Participantii au discutat despre importanta screeningului neonatal, oncologic si testarii genetice si au evidentiat necesitatea implementarii unor programe de preventie eficiente si accesibile. S-a subliniat rolul crucial al diagnosticarii precoce, mai ales in cazul afectiunilor rare sau genetice, care, daca sunt identificate la timp, pot fi gestionate mai eficient si pot oferi o sansa mai buna la o viata sanatoasa. In acest context, o abordare multidisciplinara devine esentiala pentru a asigura ingrijirea complexa de care au nevoie pacientii din Romania.<\/p>\n<p><em>\u201eEste necesara armonizarea screening-ului neonatal la nivel european si respectarea principiilor prin care trebuie organizat acest screening, pentru ca acesta sa devina un sistem la nivel national, asigurandu-se si interventiile de dupa depistarea bolii.\u201d<\/em> \u2013 spune <strong>Dorica Dan<\/strong><strong>, presedinta ARC Rare.<\/strong><\/p>\n<p>Este esential ca fiecare caz sa fie inteles si tratat in mod individual, avand in vedere diversitatea formelor acestor boli. Trimiterea din timp a pacientilor catre centrele de expertiza si asigurarea unui acces adecvat la tratament sunt esentiale pentru a salva vietile celor afectati de aceaste afectiuni complexe si periculoase. Webinarul a oferit o platforma cruciala pentru impartasirea cunostintelor si dezbaterea solutiilor inovatoare, contribuind astfel la imbunatatirea ingrijirii acestor pacienti.<\/p>\n<figure id=\"attachment_16418\" aria-describedby=\"caption-attachment-16418\" style=\"width: 1920px\" class=\"wp-caption alignnone\"><a href=\"https:\/\/jurmed.ro\/medici\/wp-content\/uploads\/sites\/2\/2024\/09\/screeningul.png\"><img loading=\"lazy\" decoding=\"async\" class=\"size-full wp-image-16418\" src=\"https:\/\/jurmed.ro\/medici\/wp-content\/uploads\/sites\/2\/2024\/09\/screeningul.png\" alt=\"screeningul\" width=\"1920\" height=\"1080\" \/><\/a><figcaption id=\"caption-attachment-16418\" class=\"wp-caption-text\">screeningul<\/figcaption><\/figure>\n<p><em>Webinarul <strong>\u201eScreeningul neonatal, bolile oncologice si testarea genetica\u201d<\/strong> este al patrulea dintr-o serie de sase care se vor derula pana la finalul anului sub umbrela Share Experience 2024.<\/em><\/p>\n<p><a href=\"https:\/\/www.sharetheexperience.org\/\"><strong><em>Share Experience 2024<\/em><\/strong><\/a><em> este un proiect organizat de Alianta Nationala pentru Boli Rare Romania si Asociatia Romana de Cancere Rare cu sprijinul Ipsen, <\/em><em>Sanofi, Roche, Johnson &amp; Johnson, Pfizer, Bristol Myers Squibb, UCB Pharma, MSD.<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Este luna de constientizare privind screeningul neonatal. Niciun copil nu ar trebui sa fie lipsit de sansa de a fi trecut prin screening pentru a-i fi depistate eventuale boli cat [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":16418,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[1],"tags":[1018,929,1068,287,1113,1112,1111,1108,1110,1109],"class_list":["post-16416","post","type-post","status-publish","format-standard","has-post-thumbnail","category-stiri-noutati","tag-alianta-nationala-pentru-boli-rare-romania","tag-arc-rare","tag-asociatia-romana-de-cancere-rare","tag-fenilcetonurie","tag-fibroza-chistica","tag-hipotiroidism-congenital","tag-pku-life-romania","tag-screening-neonatal","tag-screening-oncologic","tag-share-experience"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.0 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Screeningul neonatal, bolile oncologice si testarea genetica<\/title>\n<meta name=\"description\" content=\"Screeningul oncologic este un alt element esential in preventia si depistarea timpurie a cancerului\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/jurmed.ro\/medici\/romania-in-urma-europei-doar-3-boli-incluse-in-programul-screeningul-neonatal\/\" \/>\n<meta property=\"og:locale\" content=\"ro_RO\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Screeningul neonatal, bolile oncologice si testarea genetica\" \/>\n<meta property=\"og:description\" content=\"Screeningul oncologic este un alt element esential in preventia si depistarea timpurie a cancerului\" \/>\n<meta property=\"og:url\" content=\"https:\/\/jurmed.ro\/medici\/romania-in-urma-europei-doar-3-boli-incluse-in-programul-screeningul-neonatal\/\" \/>\n<meta property=\"og:site_name\" content=\"Jurmed - Medici\" \/>\n<meta property=\"article:published_time\" content=\"2024-09-26T10:51:47+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/jurmed.ro\/medici\/wp-content\/uploads\/sites\/2\/2024\/09\/screeningul.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1920\" \/>\n\t<meta property=\"og:image:height\" content=\"1080\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"costelv\" \/>\n<meta name=\"twitter:label1\" content=\"Scris de\" \/>\n\t<meta name=\"twitter:data1\" content=\"costelv\" \/>\n\t<meta name=\"twitter:label2\" content=\"Timp estimat pentru citire\" \/>\n\t<meta name=\"twitter:data2\" content=\"6 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/jurmed.ro\/medici\/romania-in-urma-europei-doar-3-boli-incluse-in-programul-screeningul-neonatal\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/jurmed.ro\/medici\/romania-in-urma-europei-doar-3-boli-incluse-in-programul-screeningul-neonatal\/\"},\"author\":{\"name\":\"costelv\",\"@id\":\"https:\/\/jurmed.ro\/medici\/#\/schema\/person\/d32bd0fe3243bb12082045e5e5635d2d\"},\"headline\":\"Romania in urma Europei &#8211; 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