La trobada, que es far\u00e0 a l\u2019Auditori Axa, a l\u2019Illa Diagonal, aplegar\u00e0 m\u00e9s de 150 experts nacionals i internacionals, prop de 30 representants d\u2019associacions de pacients i uns 60 malalts. S\u2019hi discutiran els \u00faltims aven\u00e7os en el diagn\u00f2stic, el tractament i el coneixement de les bases moleculars de la malaltia. Entre d\u2019altres, s\u2019hi presentaran els resultats d\u2019un recent estudi publicat a Nature sobre nous gens implicats en la patologia. <\/p>\n
Aix\u00ed mateix, s\u2019hi celebrar\u00e0 la Jornada de Treball Nacional sobre Neurofibromatosis, durant la qual es consensuaran les guies cl\u00edniques per el maneig tant de la Neurofibromatosi Tipus 1 com de la Neurofibromatosi Tipus 2. <\/p>\n
El Congr\u00e9s est\u00e0 impulsat per l\u2019Institut Catal\u00e0 d\u2019Oncologia, la Fundaci\u00f3 Institut d\u2019Investigaci\u00f3 en Ci\u00e8ncies de la Salut Germans Trias i Pujol, l\u2019Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge i l\u2019Institut de Medicina Predictiva i Personalitzada del C\u00e0ncer. Tamb\u00e9 ha rebut el suport de l\u2019Ajuntament de Barcelona i del Consell Consultiu de Pacients del Departament de Salut de la Generalitat de Catalunya. <\/p>\n
Les neurofibromatosis s\u00f3n un conjunt de malalties heredit\u00e0ries minorit\u00e0ries que es caracteritzen per l\u2019aparici\u00f3 de tumors benignes en nervis i fibres de diverses parts de l\u2019organisme. Aquests tumors poden provocar lesions cut\u00e0nies, cerebrals i nervioses que redueixen de manera important la qualitat de vida dels pacients. Aix\u00ed mateix, tamb\u00e9 existeix la possibilitat que els tumors es tornin malignes i es produeixi un c\u00e0ncer. <\/p>\n
Les neurofibromatosis s\u00f3n conseq\u00fc\u00e8ncia d\u2019alteracions en gens concrets. De les tres formes de neurofibromatosis (tipus 1, tipus 2 y schwannomatosis) que existeixen, la m\u00e9s freq\u00fcent es la neurofibromatosi tipus 1, que pot afectar a 1 de cada 3.000 individus. La NF2, per la seva banda, afecta a 1 de cada 33.000 -40.000 persones. <\/p>\n
Les tres formes presenten una important variabilitat en les manifestacions, la qual cosa fa que cada pacient sigui \u00fanic. Actualment, es pot saber si un pacient desenvolupar\u00e0 o no la malaltia, ja que se\u2019n coneixen les bases moleculars, per\u00f2 no es pot determinar quines manifestacions tindr\u00e0, ni la intensitat, ni exactament quan les desenvolupar\u00e0. <\/p>\n
La recerca est\u00e0 encaminada a ampliar el coneixement de les bases moleculars de cada una de les manifestacions cl\u00edniques i a desenvolupar estrat\u00e8gies terap\u00e8utiques i de seguiment personalitzades. <\/p>\n
Els reptes per als professionals de la salut que plantegen aquestes malalties minorit\u00e0ries s\u00f3n diversos:<\/span> <\/p>\n","protected":false},"excerpt":{"rendered":" La trobada, que es far\u00e0 a l\u2019Auditori Axa, a l\u2019Illa Diagonal, aplegar\u00e0 m\u00e9s de 150 experts nacionals i internacionals, prop de 30 representants d\u2019associacions de pacients i uns 60 malalts. S\u2019hi discutiran els \u00faltims aven\u00e7os en el diagn\u00f2stic, el tractament i el coneixement de les bases moleculars de la malaltia. Entre d\u2019altres, s\u2019hi presentaran els […]<\/p>\n","protected":false},"author":6,"featured_media":10987,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"","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":"default","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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[1],"tags":[],"class_list":["post-8324","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-sin-categorizar"],"publishpress_future_action":{"enabled":false,"date":"2025-01-25 07:01:02","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8324","targetHints":{"allow":["GET"]}}],"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\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=8324"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8324\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/10987"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=8324"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=8324"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=8324"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}