{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T14:09:53Z","timestamp":1784902193373,"version":"3.55.0"},"reference-count":27,"publisher":"Akademiai Kiado Zrt.","issue":"29","license":[{"start":{"date-parts":[[2024,7,21]],"date-time":"2024-07-21T00:00:00Z","timestamp":1721520000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Nemzeti N\u00e9peg\u00e9szs\u00e9g\u00fcgyi \u00e9s Gy\u00f3gyszer\u00e9szeti K\u00f6zpont"},{"name":"Eg\u00e9szs\u00e9g\u00fcgyi Tudom\u00e1nyos Tan\u00e1cs Hum\u00e1n Reprodukci\u00f3s Bizotts\u00e1g"},{"name":"Emberi Er\u0151forr\u00e1sok Miniszt\u00e9riuma"},{"name":"Bel\u00fcgyminiszt\u00e9rium"},{"name":"Nemzeti Eg\u00e9szs\u00e9gbiztos\u00edt\u00e1si Alapkezel\u0151"},{"name":"Orsz\u00e1gos K\u00f3rh\u00e1zi F\u0151igazgat\u00f3s\u00e1g"},{"DOI":"10.13039\/501100002332","name":"Semmelweis Egyetem","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002332","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100015763","name":"Szegedi Tudom\u00e1nyegyetem","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100015763","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Magyarorsz\u00e1gi Reform\u00e1tus Egyh\u00e1z Bethesda Gyermekk\u00f3rh\u00e1z"}],"content-domain":{"domain":["www.akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2024,7,21]]},"abstract":"\n Bevezet\u00e9s:<\/jats:italic>\n A gerincvel\u0151i izomsorvad\u00e1ssal sz\u00fcletett betegek\n optim\u00e1lis eg\u00e9szs\u00e9g\u00fcgyi ell\u00e1t\u00e1sa csak az \u00fajsz\u00fcl\u00f6ttkori sz\u0171r\u00e9ssel \u00e9rv\u00e9nyes\u00fclhet.\n Ennek a gy\u00f3gy\u00edthatatlan, progressz\u00edv, gyermekkorban a leggyakrabban hal\u00e1lt okoz\u00f3\n genetikai betegs\u00e9gnek az \u00fajsz\u00fcl\u00f6ttkori sz\u0171r\u00e9s\u00e9t sz\u00e1mos orsz\u00e1gban bevezett\u00e9k, \u00e9s\n bizony\u00edtott\u00e1k hasznoss\u00e1g\u00e1t a korai diagn\u00f3zis \u00e9s ter\u00e1piakezdet jelent\u0151s\n eredm\u00e9nyeivel.\n C\u00e9lkit\u0171z\u00e9s:<\/jats:italic>\n A betegs\u00e9g \u00fajsz\u00fcl\u00f6ttkori sz\u0171r\u00e9se\n hazai kutat\u00e1si programj\u00e1nak \u00e9rt\u00e9kel\u00e9se a v\u00e1lasztott sz\u0171r\u0151m\u00f3dszer\n megb\u00edzhat\u00f3s\u00e1g\u00e1nak, lakoss\u00e1gi ig\u00e9ny\u00e9nek, k\u00f6lts\u00e9ghat\u00e9konys\u00e1g\u00e1nak \u00e9s a korai\n kezel\u00e9s eg\u00e9szs\u00e9gnyeres\u00e9g\u00e9nek vizsg\u00e1lat\u00e1ra; eredm\u00e9nyess\u00e9ge eset\u00e9n javaslatt\u00e9tel\n az \u00fajsz\u00fcl\u00f6ttkori sz\u0171r\u0151vizsg\u00e1latok k\u00f6z\u00e9 t\u00f6rt\u00e9n\u0151 automatikus felv\u00e9tel\u00e9re.\n M\u00f3dszer:<\/jats:italic>\n Az izomsorvad\u00e1s sz\u0171r\u00e9se a sz\u00fcl\u0151k \u00f6nk\u00e9ntes\n beleegyez\u00e9se \u00e9s ingyenes r\u00e9szv\u00e9tele eset\u00e9n a rutinszer\u0171 sz\u0171r\u00e9sekre levett\n v\u00e9rmint\u00e1b\u00f3l. Pozit\u00edv sz\u0171r\u0151teszt eset\u00e9n meger\u0151s\u00edt\u0151 molekul\u00e1ris genetikai\n vizsg\u00e1lat a sz\u0171r\u0151teszt ellen\u0151rz\u00e9s\u00e9re \u00e9s a v\u00e1laszthat\u00f3 ter\u00e1pi\u00e1t befoly\u00e1sol\u00f3\n paral\u00f3g g\u00e9n k\u00f3piasz\u00e1m\u00e1nak meghat\u00e1roz\u00e1s\u00e1ra. A ter\u00e1pia- \u00e9s kezel\u0151k\u00f6zpont\n megv\u00e1laszt\u00e1sa genetikai tan\u00e1csad\u00e1s keret\u00e9ben, a sz\u00fcl\u0151kkel hozott k\u00f6z\u00f6s d\u00f6nt\u00e9s\n alapj\u00e1n. A v\u00e1lasztott gy\u00f3gyszer kontraindik\u00e1ci\u00f3j\u00e1nak kiz\u00e1r\u00e1s\u00e1hoz \u00e9s a\n finansz\u00edroz\u00e1s egyedi m\u00e9lt\u00e1nyoss\u00e1g\u00e1nak elb\u00edr\u00e1l\u00e1s\u00e1hoz sz\u00fcks\u00e9ges vizsg\u00e1latok ut\u00e1n\n az enged\u00e9ly birtok\u00e1ban a gy\u00f3gyszeres kezel\u00e9s elv\u00e9gz\u00e9se, majd a betegek tart\u00f3s\n k\u00f6vet\u00e9se.\n Eredm\u00e9nyek:<\/jats:italic>\n A program 14 h\u00f3napja alatt a sz\u0171r\u00e9s\n lakoss\u00e1gi n\u00e9pszer\u0171s\u00e9ge kimagasl\u00f3 volt, az \u00fajsz\u00fcl\u00f6ttek 75,45%-\u00e1ra kiterjedt. 9\n gyermekn\u00e9l \u00fajsz\u00fcl\u00f6ttkorban, t\u00fcnetmentes st\u00e1diumban igazol\u00f3dott a betegs\u00e9g, \u00e9s\n \u00e1tlagosan 36,2 napos \u00e9letkorban megt\u00f6rt\u00e9nt a gy\u00f3gyszeres kezel\u00e9s: 8 betegn\u00e9l\n t\u00fcnetmentes, 1-n\u00e9l t\u00fcnetes \u00e1llapotban. T\u00fcnetmentes ter\u00e1piakezdet ut\u00e1n \u00e1tlag\n 218,5 (93\u2013346) napos \u00e9letkorban a gyermekek szomatomotoros \u00e9s ment\u00e1lis fejl\u0151d\u00e9se\n az \u00e9letkoruknak megfelel\u0151 volt, nem k\u00f6vetkezett be technol\u00f3giaf\u00fcgg\u0151s\u00e9g l\u00e9gz\u00e9s-\n vagy nyel\u00e9szavar miatt, nem szorulnak seg\u00e9deszk\u00f6z\u00f6kre. 1 betegn\u00e9l a\n ter\u00e1piakezdet el\u0151tt megjelent t\u00fcnetek miatt r\u00e9szleges respir\u00e1torf\u00fcgg\u0151s\u00e9g\n k\u00f6vetkezett be. A sz\u0171r\u0151teszt megb\u00edzhat\u00f3nak bizonyult, a kutat\u00e1si id\u0151szak alatt\n \u00e1lpozit\u00edv eredm\u00e9ny nem volt, \u00e9s \u00e1lnegat\u00edv eredm\u00e9nyr\u0151l sincs tudom\u00e1sunk.\n Megbesz\u00e9l\u00e9s:<\/jats:italic>\n A hazai sz\u0171r\u00e9si program a nemzetk\u00f6zi adatokhoz\n hasonl\u00f3 eredm\u00e9nyeket mutatott, igazolta a gerincvel\u0151i izomsorvad\u00e1shoz t\u00e1rsul\u00f3\n eg\u00e9szs\u00e9gnyeres\u00e9get.\n K\u00f6vetkeztet\u00e9s:<\/jats:italic>\n Az eredm\u00e9nyek alapj\u00e1n\n indokoltnak tartjuk az \u00fajsz\u00fcl\u00f6ttkori gerincvel\u0151i izomsorvad\u00e1s sz\u0171r\u00e9s\u00e9nek az\n \u00fajsz\u00fcl\u00f6ttkori sz\u0171r\u0151programba t\u00f6rt\u00e9n\u0151 automatikus beiktat\u00e1s\u00e1t Magyarorsz\u00e1gon. Orv\n Hetil. 2024; 165(29): 1122\u20131129\n <\/jats:p>","DOI":"10.1556\/650.2024.33080","type":"journal-article","created":{"date-parts":[[2024,7,21]],"date-time":"2024-07-21T03:37:43Z","timestamp":1721533063000},"page":"1122-1129","update-policy":"https:\/\/doi.org\/10.1556\/policypage.crossmark.crossref.2","source":"Crossref","is-referenced-by-count":1,"title":["A gerincvel\u0151i izomsorvad\u00e1s \u00fajsz\u00fcl\u00f6ttkori sz\u0171r\u00e9s\u00e9nek eredm\u00e9nyei Magyarorsz\u00e1gon 2023-ban"],"prefix":"10.1556","volume":"165","author":[{"given":"Borb\u00e1la","family":"Mikos","sequence":"first","affiliation":[{"name":"Magyarorsz\u00e1gi Reform\u00e1tus Egyh\u00e1z Bethesda Gyermekk\u00f3rh\u00e1za Budapest, Bethesda u. 3., 1146 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1ria Judit","family":"Moln\u00e1r","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Genomikai Medicina \u00e9s Ritka Betegs\u00e9gek Int\u00e9zete Budapest, Gyulai P\u00e1l u. 2., 1085 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ildik\u00f3","family":"Szatm\u00e1ri","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Gyermekgy\u00f3gy\u00e1szati Klinika, Anyagcsere Sz\u0171r\u0151 \u00e9s Diagnosztikai K\u00f6zpont Budapest Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\u00e9ter","family":"Monostori","sequence":"additional","affiliation":[{"name":"Szegedi Tudom\u00e1nyegyetem, Szent-Gy\u00f6rgyi Albert Orvostudom\u00e1nyi Kar, Klinikai K\u00f6zpont, Gyermekgy\u00f3gy\u00e1szati Klinika, Anyagcsere-betegs\u00e9gek Sz\u0171r\u0151vizsg\u00e1lati Laborat\u00f3riuma Szeged Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Csaba","family":"Bereczki","sequence":"additional","affiliation":[{"name":"Szegedi Tudom\u00e1nyegyetem, Szent-Gy\u00f6rgyi Albert Orvostudom\u00e1nyi Kar, Klinikai K\u00f6zpont, Gyermekgy\u00f3gy\u00e1szati Klinika \u00e9s Gyermekeg\u00e9szs\u00e9g\u00fcgyi K\u00f6zpont Szeged Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Attila J\u00f3zsef","family":"Szab\u00f3","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Gyermekgy\u00f3gy\u00e1szati Klinika Budapest Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00e9na","family":"Szab\u00f3","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Gyermekgy\u00f3gy\u00e1szati Klinika Budapest Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katalin","family":"Cs\u0151sz","sequence":"additional","affiliation":[{"name":"Orsz\u00e1gos K\u00f3rh\u00e1zi F\u0151igazgat\u00f3s\u00e1g Budapest Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9la","family":"Muzsik","sequence":"additional","affiliation":[{"name":"Orsz\u00e1gos K\u00f3rh\u00e1zi F\u0151igazgat\u00f3s\u00e1g Budapest Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gy\u00f6rgy J\u00e1nos","family":"Velkey","sequence":"additional","affiliation":[{"name":"Magyarorsz\u00e1gi Reform\u00e1tus Egyh\u00e1z Bethesda Gyermekk\u00f3rh\u00e1za Budapest, Bethesda u. 3., 1146 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"425","reference":[{"key":"R1","doi-asserted-by":"crossref","unstructured":"D\u2019Amico A, Mercuri E, Tiziano FD, et al. Spinal muscular atrophy.\n Orphanet J Rare Dis. 2011; 6: 71.","DOI":"10.1186\/1750-1172-6-71"},{"key":"R2","doi-asserted-by":"crossref","unstructured":"Chen TH. New and developing therapies in spinal muscular atrophy:\n from genotype to phenotype to treatment and where do we stand? Int J Mol Sci.\n 2020; 21: 3297.","DOI":"10.3390\/ijms21093297"},{"key":"R3","doi-asserted-by":"crossref","unstructured":"Day JW, Howell K, Place A, et al. Advances and limitations for the\n treatment of spinal muscular atrophy. BMC Pediatr. 2022; 22:\n 632.","DOI":"10.1186\/s12887-022-03671-x"},{"key":"R4","doi-asserted-by":"crossref","unstructured":"Chaplin M, Bersnahan RB, Fleeman N, et al. Onasemnogene abeparvovec\n for treating pre-symptomatic spinal muscular atrophy: an external assessment\n group perspective of the partial review of NICE highly specialised technology\n evaluation 15. Pharmacoecon Open 2023; 7: 863\u2013875. Erratum: Pharmacoecon Open\n 2023; 7: 1015.","DOI":"10.1007\/s41669-023-00439-6"},{"key":"R5","doi-asserted-by":"crossref","unstructured":"Crawford TO, Swoboda KJ, DeVivo DC, et al. Continued benefit of\n nusinersen initiated in the presymptomatic stage of spinal muscular atrophy:\n 5-year update of the NURTURE study. Muscle Nerve 2023; 68:\n 157\u2013170.","DOI":"10.1002\/mus.27853"},{"key":"R6","doi-asserted-by":"crossref","unstructured":"Finkel R, Farrar M, Servais L, et al. P212 RAINBOWFISH: primary\n efficacy and safety data in risdiplam-treated infants with presymptomatic spinal\n muscular atrophy (SMA). Neurumusc Disord. 2023; 33(Suppl 1):\n S87\u2013S88.","DOI":"10.1016\/j.nmd.2023.07.094"},{"key":"R7","unstructured":"Protocol of sampling for neonatal screenings. [Mintav\u00e9tel\n \u00fajsz\u00fcl\u00f6ttkori sz\u0171r\u0151vizsg\u00e1lathoz. Szakmai t\u00e1j\u00e9koztat\u00f3.] Available from:\n https:\/\/semmelweis.hu\/bokayklinika\/files\/2020\/06\/szakmai_tajekoztato_nbs.pdf\n [accessed: 15 April, 2024]."},{"key":"R8","unstructured":"Healthcare professional guidelines on the diagnosis, clinical\n presentation, treatment, rehabilitation and complex care of patients with spinal\n muscular atrophy. [A Bel\u00fcgyminiszt\u00e9rium eg\u00e9szs\u00e9g\u00fcgyi szakmai ir\u00e1nyelve a\n spin\u00e1lis muscularis atrophia diagnosztik\u00e1j\u00e1r\u00f3l, klinikum\u00e1r\u00f3l, a betegek\n kezel\u00e9s\u00e9r\u0151l, rehabilit\u00e1ci\u00f3j\u00e1r\u00f3l \u00e9s komplex gondoz\u00e1s\u00e1r\u00f3l]. E\u00fc K\u00f6zl. LXXIII(3.\n sz\u00e1m): 303\u2013354. [Hungarian] Available from:\n http:\/\/kozlonyok.hu\/kozlonyok\/Kozlonyok\/6\/PDF\/2023\/3.pdf\n [accessed: 15 April, 2024]."},{"key":"R9","unstructured":"Mikos B, Szatm\u00e1ri I, Monostori P, et al. A new era in congenital\n spinal muscular atrophy. [\u00daj korszak a velesz\u00fcletett gerincvel\u0151i izomsorvad\u00e1s\n ter\u00e9n.]. Gyermekgy\u00f3gy\u00e1szat 2023; 74: 125\u2013131. [Hungarian]"},{"key":"R10","doi-asserted-by":"crossref","unstructured":"Farrar MA, Kiernan MC. The genetics of spinal muscular atrophy:\n progress and challenges. Neurotherapeutics 2015; 12: 290\u2013302.","DOI":"10.1007\/s13311-014-0314-x"},{"key":"R11","doi-asserted-by":"crossref","unstructured":"Feldk\u00f6tter M, Schwarzer V, Wirth, R, et al. Quantitative analyses of\n SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable\n carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum\n Genet. 2002; 70: 358\u2013368.","DOI":"10.1086\/338627"},{"key":"R12","doi-asserted-by":"crossref","unstructured":"Kolb SJ, Kissel JT. Spinal muscular atrophy. 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