{"id":24330,"date":"2023-10-24T10:50:06","date_gmt":"2023-10-24T08:50:06","guid":{"rendered":"https:\/\/idibell.cat\/?p=24330"},"modified":"2023-10-24T10:50:06","modified_gmt":"2023-10-24T08:50:06","slug":"la-iv-jornada-de-malalties-minoritaries-de-bellvitge-reivindica-el-paper-clau-de-les-reanalisis-genetiques","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2023\/10\/la-iv-jornada-de-malalties-minoritaries-de-bellvitge-reivindica-el-paper-clau-de-les-reanalisis-genetiques\/","title":{"rendered":"La IV Jornada de Malalties Minorit\u00e0ries de Bellvitge reivindica el paper clau de les rean\u00e0lisis gen\u00e8tiques"},"content":{"rendered":"

La IV Jornada del Grup de Malalties Minorit\u00e0ries de l\u2019Hospital Universitari de Bellvitge i l’IDIBELL, que se celebrar\u00e0 el proper 26 d\u2019octubre en aquest hospital, abordar\u00e0 algunes de les novetats diagn\u00f2stiques i terap\u00e8utiques m\u00e9s recents d\u2019aquestes malalties i, entre d\u2019altres temes, reivindicar\u00e0 la import\u00e0ncia de fer rean\u00e0lisis dels estudis gen\u00e8tics.<\/p>\n

La rean\u00e0lisi consisteix a tornar a examinar al cap d\u2019un temps \u2013per exemple, dos anys\u2013 la mateixa informaci\u00f3 que originalment no va permetre arribar a resultats concloents. Aix\u00f2 \u00e9s important perqu\u00e8 actualment hi ha arreu del m\u00f3n diverses bases de dades gen\u00e8tiques de gran pot\u00e8ncia que di\u00e0riament s\u2019alimenten de nova informaci\u00f3. Aix\u00ed, \u00e9s possible que, sense necessitat de fer cap nova prova al pacient, al cap de poc temps la rean\u00e0lisi permeti arribar al diagn\u00f2stic que no s\u2019havia assolit amb anterioritat, i es pugui aix\u00ed fer un diagn\u00f2stic prec\u00eds, indicar un tractament espec\u00edfic i tamb\u00e9 determinar el risc gen\u00e8tic dels familiars del pacient.<\/p>\n

El Dr. Antoni Riera-Mestre, cap del Grup de Malalties Sist\u00e8miques, Vasculars i Envelliment<\/a> de l’IDIBELL, adverteix que \u201cfer rean\u00e0lisis no \u00e9s senzill, es necessita organitzaci\u00f3, treball en equip multidisciplinari i m\u00e9s recursos, i \u00e9s per aix\u00f2 que \u00e9s tant complex fer peri\u00f2dicament rean\u00e0lisis en la pr\u00e0ctica cl\u00ednica habitual. Des del meu punt de vista, haurien de ser considerades i integrades dins de l\u2019activitat assistencial\u201d.<\/p>\n

Com cada any, la IV Jornada de Malalties Minorit\u00e0ries comptar\u00e0 amb alguns dels especialistes m\u00e9s destacats en malalties minorit\u00e0ries del Campus, molts d\u2019ells referents a Catalunya i Espanya, aix\u00ed com amb invitats externs, com a reflex de l\u2019elevat nivell en el maneig d\u2019aquestes malalties a Catalunya i de la voluntat que sigui una jornada per al conjunt d\u2019especialistes de Catalunya que atenen pacients amb malalties minorit\u00e0ries.<\/p>\n

La jornada reunir\u00e0 especialistes en assist\u00e8ncia i recerca cl\u00ednica, en gen\u00e8tica i an\u00e0lisis cl\u00edniques i en recerca b\u00e0sica, per tal posar en valor el car\u00e0cter interprofessional i traslacional de les diferents unitats que componen el Grup de Malalties Minorit\u00e0ries i que treballen coordinadament al Campus de Bellvitge, amb l\u2019objectiu com\u00fa de donar una resposta integral als nombrosos interrogants que plantegen encara aquestes malalties.<\/p>\n

Entre d\u2019altres, una de les novetats que s\u2019hi presentaran ser\u00e0 la recerca cl\u00ednica pionera realitzada en la malaltia d\u2019Erdheim-Chester mitjan\u00e7ant exploracions amb un equip combinat de tomografia d\u2019emissi\u00f3 de positrons i resson\u00e0ncia magn\u00e8tica (PET\/RM), que ha estat possible gr\u00e0cies a la recent incorporaci\u00f3 d\u2019aquesta tecnologia a l\u2019Hospital Universitari de Bellvitge, que ha esdevingut el primer centre p\u00fablic a disposar-ne a nivell estatal per a \u00fas assistencial.<\/p>\n

Aix\u00ed mateix, una de les convidades destacades ser\u00e0 la Dra. Rita Reig, del Programa de Malalties Minorit\u00e0ries del CatSalut, la qual exposar\u00e0 les fites assolides i els reptes pendents en aquest \u00e0mbit a Catalunya.<\/p>\n

El Dr. Riera-Mestre assenyala que el treball coordinat entre diferents especialistes, professionals de la salut i centres que es porta a terme a tot el Campus de Bellvitge en l\u2019\u00e0mbit de les malalties minorit\u00e0ries \u201c\u00e9s un projecte transversal i un segell identitari del nostre centre, que ens permet cercar sinergies i avan\u00e7ar millor i m\u00e9s r\u00e0pid per tal de millorar l\u2019atenci\u00f3 als pacients amb malalties minorit\u00e0ries i el seu entorn\u201d.<\/p>\n

La jornada est\u00e0 recolzada per la Plataforma de Malalties Minorit\u00e0ries i per FEDER, aix\u00ed com per nombroses associacions de pacients d\u2019abast catal\u00e0 i estatal, i ha estat acreditada oficialment com a formaci\u00f3 continuada sanit\u00e0ria.<\/p>\n","protected":false},"excerpt":{"rendered":"

Estudis gen\u00e8tics que inicialment han donat resultats incerts poden proporcionar un diagn\u00f2stic fiable si es revisen al cap de dos anys<\/p>\n","protected":false},"author":8,"featured_media":24331,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[427,334,466],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-19 07:01:41","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/24330"}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=24330"}],"version-history":[{"count":1,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/24330\/revisions"}],"predecessor-version":[{"id":24332,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/24330\/revisions\/24332"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/24331"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=24330"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=24330"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=24330"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}