{"id":76010,"date":"2025-02-27T00:00:00","date_gmt":"2025-02-26T23:00:00","guid":{"rendered":"https:\/\/dev.institutchiaribcn.com\/comunicacion\/el-dia-de-les-malalties-minoritaries-2025\/"},"modified":"2026-01-28T13:49:09","modified_gmt":"2026-01-28T12:49:09","slug":"dia-malalties-minoritaries-2025","status":"publish","type":"comunicacion","link":"https:\/\/institutchiaribcn.com\/ca\/dia-malalties-minoritaries-2025\/","title":{"rendered":"El dia de les Malalties Minorit\u00e0ries 2025"},"content":{"rendered":"<p>A l\u2019Institut Chiari de Barcelona, treballem des del 2008 amb patologies incloses i relacionades amb la\u00a0<strong>Malaltia del Filum i la S\u00edndrome Neuro-Cranio-vertebral<\/strong>, algunes de les quals es consideren\u00a0<strong>malalties \u00f2rfenes<\/strong>, com la\u00a0<strong>S\u00edndrome d\u2019Arnold Chiari I i la Siringomi\u00e8lia idiop\u00e0tica.<\/strong><\/p>\n<p>Els autors de\u00a0<em>The Lancet Global Health<\/em>\u00a0afirmaven l\u2019any passat que, en general, el Dia de les Malalties Minorit\u00e0ries de 2024 es caracteritzava tant pels aven\u00e7os com pels desafiaments persistents. Aleshores ressaltaven que encara era \u201c<strong><em>necessari prestar atenci\u00f3 urgent a la prioritzaci\u00f3 del diagn\u00f2stic preco\u00e7 i prec\u00eds, aix\u00ed com del tractament efica\u00e7 de les malalties minorit\u00e0ries, mitjan\u00e7ant pol\u00edtiques espec\u00edfiques i finan\u00e7ament per a la investigaci\u00f3 i el desenvolupament.\u00a0<\/em><\/strong><em>Un enfocament col\u00b7lectiu que impliqui la integraci\u00f3 de les malalties minorit\u00e0ries en el sistema d\u2019atenci\u00f3 sanit\u00e0ria, la inclusi\u00f3 de consideracions de salut mental en els serveis de malalties minorit\u00e0ries i una major conscienciaci\u00f3, seran essencials per a fomentar el progr\u00e9s i abordar les necessitats no satisfetes de les persones afectades per malalties minorit\u00e0ries.\u201d<\/em>\u00a0(The landscape for rare diseases in 2024, The Lancet, Vol. 12, March 2024).<\/p>\n<p>Pel que fa a les patologies de les quals ens ocupem, estem completament d\u2019acord en el fet que \u00e9s\u00a0<strong>fonamental i urgent saber el diagn\u00f2stic com m\u00e9s aviat millor.\u00a0<\/strong>En primer lloc, les caracter\u00edstiques d\u2019imatge que se solen ignorar des de radiologia i neurocirurgia\u00a0<strong>en les proves diagn\u00f2stiques\u00a0<\/strong>(RMN); com els descensos de les am\u00edgdales cerebel\u00b7loses de pocs cent\u00edmetres (que no s\u2019accepten com a Arnold Chiari I), els impactes de les mateixes en el forat occipital (que encara molts no diagnostiquen com a Arnold Chiari 0), els edemes o isqu\u00e8mies de la medul\u00b7la espinal (presiringomi\u00e8lies) i d\u2019altres; com ara les evid\u00e8ncies de medul\u00b7la tensa, desviacions de la columna vertebral i con medul\u00b7lar m\u00e9s baix de D12-L1, t\u00edpics del SNCV.<\/p>\n<div align=\"center\"><a href=\"https:\/\/institutchiaribcn.com\/wp-content\/uploads\/2025\/02\/si%CC%81ntomas-EF-SNCV.png\"><img decoding=\"async\" class=\"img-responsive alignnone size-full wp-image-9604\" src=\"https:\/\/institutchiaribcn.com\/wp-content\/uploads\/2025\/02\/si%CC%81ntomas-EF-SNCV.png\" alt=\"\" width=\"400\" height=\"auto\" \/><\/a><br \/>\n<em>Taula I. Freq\u00fc\u00e8ncia dels s\u00edmptomes en 373 pacients amb EF\/SNCV. (The Filum disease and the Neuro-Cranio-Vertebral Syndrome: definition, clinical picture and imaging features, Royo et al., BMC Neurology 2020).<\/em><\/div>\n<p>&nbsp;<\/p>\n<div align=\"center\"><a href=\"https:\/\/institutchiaribcn.com\/wp-content\/uploads\/2025\/02\/signos-EF-SNCV.png\"><img decoding=\"async\" class=\"img-responsive alignnone size-full wp-image-9603\" src=\"https:\/\/institutchiaribcn.com\/wp-content\/uploads\/2025\/02\/signos-EF-SNCV.png\" alt=\"\" width=\"800\" height=\"auto\" \/><\/a><br \/>\n<em>Taula II. Freq\u00fc\u00e8ncia dels signes en 373 pacients amb EF\/SNCV. (The Filum disease and the Neuro-Cranio-Vertebral Syndrome: definition, clinical picture and imaging features, Royo et al., BMC Neurology 2020).<\/em><\/div>\n<p>En segon lloc,\u00a0<strong>amb relaci\u00f3 a s\u00edmptomes i signes<\/strong>, on sembla que tampoc s\u2019admet, encara que el quadre cl\u00ednic que comporten aquests diagn\u00f2stics pugui ser tan variat com els nostres especialistes han descrit i publicat (Taula I i II). De fet, encara molts malalts han de patir una llarga espera des dels primers reconeixements amb el metge general o de cap\u00e7alera fins a arribar als especialistes, amb la sorpresa que a vegades aquests mateixos no coneixen l\u2019ampli ventall de trastorns que comporten les condicions implicades en la Malaltia del Filum.<\/p>\n<p>En tercer lloc, malgrat que ja existeix suficient literatura m\u00e8dico-cient\u00edfica que descriu tamb\u00e9 els s\u00edmptomes neuropsicol\u00f2gics en aquestes patologies, especialment de l\u2019Arnold Chiari I;\u00a0<strong>els pacients continuen sent derivats als circuits de salut mental,\u00a0<\/strong>fins i tot quan hi ha anomalies en les imatges, per\u00f2 normalment si aquestes s\u00f3n lleus, rebutgen atribuir-los el nivell de deteriorament de la salut que s\u00ed que poden provocar.<\/p>\n<p>\u201cEls aven\u00e7os en el\u00a0<strong>diagn\u00f2stic preco\u00e7 i prec\u00eds<\/strong>\u00a0s\u00f3n d\u2019import\u00e0ncia clau, ja que el diagn\u00f2stic r\u00e0pid pot millorar els resultats de salut i la qualitat de vida\u201d. \u00c9s exactament aquest el motiu pel que recomanem als malalts que realitzin una\u00a0<strong>orientaci\u00f3 diagn\u00f2stica en el nostre centre com m\u00e9s aviat millor<\/strong>, per tal de detectar descensos o impactes de les am\u00edgdales, escoliosi\/cifosi \u2013 encara que siguin lleus-, quist tamb\u00e9 petit en la medul\u00b7la espinal; tots ells s\u00edmptomes corresponents a l\u2019esmentat en el quadre cl\u00ednic. Malgrat que els especialistes o radi\u00f2legs anteriorment consultats no els hi hagin donat import\u00e0ncia.<\/p>\n<p>En aquest\u00a0<strong>Dia internacional de les Malalties Minorit\u00e0ries de 2025,\u00a0<\/strong>insistim en la import\u00e0ncia que t\u00e9 pels pacients\u00a0<strong>rebre una opini\u00f3 preco\u00e7 i poder accedir a un tractament adequat, m\u00ednimament invasiu, personalitzat i comprensiu de totes les pautes necess\u00e0ries per a la resoluci\u00f3 de cada trastorn desenvolupat.\u00a0<\/strong>I fer-ho com m\u00e9s aviat millor \u2013 com proposa el m\u00e8tode Filum System\u00ae-; el que pot ajudar molt a aconseguir\u00a0<strong>resultats de millora, allargament o com a m\u00ednim de detecci\u00f3 del deteriorament neurol\u00f2gic, i aix\u00ed poder recuperar una qualitat de vida satisfact\u00f2ria.<\/strong><\/p>\n","protected":false},"featured_media":76011,"template":"","tipos-de-comunicacion":[509],"class_list":["post-76010","comunicacion","type-comunicacion","status-publish","has-post-thumbnail","hentry","tipos-de-comunicacion-noticies"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>El dia de les Malalties Minorit\u00e0ries 2025 | ICSEB<\/title>\n<meta name=\"description\" content=\"A l\u2019Institut Chiari de Barcelona, treballem des del 2008 amb patologies incloses i relacionades amb la Malaltia del Filum i... \u00a0 Llegir m\u00e9s \u2192\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/institutchiaribcn.com\/ca\/dia-malalties-minoritaries-2025\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" 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