{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,28]],"date-time":"2022-03-28T22:25:45Z","timestamp":1648506345584},"reference-count":0,"publisher":"Ideggyogyaszati Szemle Journal","issue":"3-4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ideggyogy Sz"],"published-print":{"date-parts":[[2021]]},"abstract":"<jats:p>A modern, betegcentrikus eg\u00e9szs\u00e9g\u00fcgyi ell\u00e1t\u00e1sban a beteg aktivit\u00e1sa, elv\u00e1r\u00e1sai, f\u00e9lelmei nagyobb szerepet kapnak a diagn\u00f3zis gyors fel\u00e1ll\u00edt\u00e1s\u00e1nak, objekt\u00edven m\u00e9rhet\u0151 ter\u00e1pi\u00e1s v\u00e1lasz felt\u00e1r\u00e1s\u00e1nak al\u00e1rendelt, orvoscentrikus inform\u00e1ci\u00f3szerz\u00e9ssel szemben. A kr\u00f3nikus betegs\u00e9gekben elengedhetetlen a betegek gy\u00f3gyul\u00e1si folyamatba t\u00f6rt\u00e9n\u0151 bevon\u00e1sa. A Pompe-betegs\u00e9g egy ritka, \u00f6r\u00f6kletes, a lizoszom\u00e1lis t\u00e1rol\u00e1si rendelleness\u00e9gek k\u00f6z\u00e9 tartoz\u00f3 k\u00f3rk\u00e9p, amelyben az \u03b1-gl\u00fckozid\u00e1z enzimet k\u00f3dol\u00f3 g\u00e9n funkci\u00f3veszt\u0151 mut\u00e1ci\u00f3i k\u00f6vetkezt\u00e9ben v\u00e9gtag\u00f6v- \u00e9s axi\u00e1lis t\u00edpus\u00fa izomgyenges\u00e9g, l\u00e9gz\u00e9si el\u00e9gtelens\u00e9g alakul ki. A betegs\u00e9g felismer\u00e9s\u00e9nek jelent\u0151s\u00e9g\u00e9t kiemeli, hogy 15 \u00e9ve el\u00e9rhet\u0151 a hi\u00e1nyz\u00f3 enzimet a szervezetbe juttat\u00f3, betegs\u00e9gmodul\u00e1l\u00f3 enzimter\u00e1pia (ERT). Jelen vizsg\u00e1latunkban a Pompe-k\u00f3rban szen\u00adved\u0151 betegek sz\u00e1m\u00e1ra k\u00e9sz\u00edtett\u00fcnk beteg \u00e1ltal riport\u00e1lt kimeneti mutat\u00f3kat felm\u00e9r\u0151 (PROM) k\u00e9rd\u0151\u00edvcsomagot, amelyben az \u00e1ltal\u00e1nos \u00e9letmin\u0151s\u00e9gi sk\u00e1l\u00e1kat (EuroQoL, EQ-5D, SF-36), a mindennapi tev\u00e9kenys\u00e9gekhez kapcsolt funkcion\u00e1lis k\u00e9pess\u00e9geket, a mozg\u00e1steljes\u00edtm\u00e9nyt \u00e9s a vitalit\u00e1st felm\u00e9r\u0151 (R-PAct-Scale, Rotterdam \u00e9s Bartel moz\u00adg\u00e1s\u00adkorl\u00e1tozotts\u00e1gi sk\u00e1la, Fatigue Severity Score) modulo\u00adkat kombin\u00e1ltuk. Az adatokat h\u00e1rom \u00e9ven \u00e1t gy\u0171jt\u00f6tt\u00fck. A PROMs k\u00e9rd\u0151\u00edvek (patient reported outcome measures) j\u00f3l kieg\u00e9sz\u00edtik az orvos \u00e1ltal r\u00f6gz\u00edtett \u00e1llapotfelm\u00e9r\u00e9st, \u00e9s bizonyos aspektusokr\u00f3l (p\u00e9ld\u00e1ul a betegek objekt\u00edv izomgyenges\u00e9get meghalad\u00f3 m\u00e9rt\u00e9k\u0171 f\u00e1rad\u00e9konys\u00e1ga, stagn\u00e1l\u00f3 fizikai k\u00e9pess\u00e9gek \u00e9s aktivit\u00e1s mellett is roml\u00f3 t\u00e1rsadalmi aktivit\u00e1s, bizonyos dom\u00e9nekben igen jelent\u0151s individu\u00e1lis k\u00fcl\u00f6nbs\u00e9gek) csak a PROM-ok ny\u00fajtottak inform\u00e1ci\u00f3t. A betegs\u00e9gteher pszich\u00e9s hat\u00e1sai is t\u00fckr\u00f6z\u0151dnek a PROM-okban. Az \u00faj, innovat\u00edv kezel\u00e9sek hat\u00e1soss\u00e1g\u00e1nak k\u00f6vet\u00e9s\u00e9ben az orvos \u00e1ltal megfigyelt v\u00e9gpontok mellett sz\u00fcks\u00e9ges a betegek n\u00e9z\u0151pontjainak figyelembev\u00e9tele is. A ter\u00e1pi\u00e1s fejleszt\u00e9sek akt\u00edv szerepl\u0151iv\u00e9 v\u00e1l\u00f3 betegek k\u00f6zrem\u0171k\u00f6d\u00e9s\u00e9vel olyan inform\u00e1ci\u00f3k nyerhet\u0151k, amelyek a regul\u00e1ris orvosi vizitek alkalm\u00e1val nem ker\u00fclnek felsz\u00ednre, j\u00f3llehet alapvet\u0151 fontoss\u00e1g\u00faak a klinikai kutat\u00e1sok k\u00e9rd\u00e9seinek \u00e9s priorit\u00e1sainak meghat\u00e1roz\u00e1s\u00e1ban. Minden forgalomban lev\u0151 orphan gy\u00f3gyszer vonatkoz\u00e1s\u00e1ban k\u00edv\u00e1natosnak tartjuk a betegek bevon\u00e1s\u00e1t az \u00e1ltal\u00e1nos \u00e9s az adott k\u00f3rk\u00e9pre jellemz\u0151 \u00e1llapotle\u00edr\u00f3k t\u00f6bbdimenzi\u00f3s gy\u0171jt\u00e9s\u00e9be, azok id\u0151beli v\u00e1ltoz\u00e1s\u00e1nak k\u00f6vet\u00e9s\u00e9t pedig javasoljuk felhaszn\u00e1lni a kezel\u00e9s hat\u00e1soss\u00e1g\u00e1nak monitoroz\u00e1sa \u00e9rdek\u00e9ben.<\/jats:p>","DOI":"10.18071\/isz.74.0105","type":"journal-article","created":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T12:59:27Z","timestamp":1617281967000},"page":"105-115","source":"Crossref","is-referenced-by-count":0,"title":["A betegek \u00e1ltal riport\u00e1lt kimeneti mutat\u00f3k jelent\u0151s\u00e9ge Pompe-k\u00f3rban"],"prefix":"10.18071","volume":"74","author":[{"given":"M\u00e1ria Judit","family":"Moln\u00e1r","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viktor","family":"Moln\u00e1r","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Izabella","family":"L\u00e1szl\u00f3","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1rta","family":"Szegedi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vera","family":"V\u00e1rhegyi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zolt\u00e1n","family":"Grosz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7411","published-online":{"date-parts":[[2021,3,30]]},"container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"original-title":[],"deposited":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T12:59:30Z","timestamp":1617281970000},"score":1,"resource":{"primary":{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/the-importance-of-patient-reported-outcome-measures-in-pompe-disease"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":0,"journal-issue":{"issue":"3-4","published-online":{"date-parts":[[2021,3,30]]},"published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.18071\/isz.74.0105","relation":{},"ISSN":["0019-1442","2498-6208"],"issn-type":[{"value":"0019-1442","type":"print"},{"value":"2498-6208","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021]]}}}