{"id":107711,"date":"2020-02-26T09:17:27","date_gmt":"2020-02-26T08:17:27","guid":{"rendered":"https:\/\/sdk.mk\/?p=107711"},"modified":"2020-02-26T09:17:27","modified_gmt":"2020-02-26T08:17:27","slug":"ju-njoftojme-me-semundjet-e-rralla-semundja-batten","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-semundja-batten\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: S\u00cbMUNDJA BATTEN"},"content":{"rendered":"<div class=\"f52428582a4b906b2d2e2a7d733c7d27\" data-index=\"7\" style=\"float: none; margin:10px 0 10px 0; text-align:center;\">\n<!-- MSP Ads Asynchronous JS Tag - Generated with Revive Adserver v5.4.1 -->\r\n<ins data-revive-zoneid=\"167\" data-revive-id=\"060fdb01f6430ec164d3519234aa4967\"><\/ins>\r\n<script async src=\"\/\/panel.ads.com.mk\/www\/delivery\/asyncjs.php\"><\/script>\n<\/div>\n<p><a href=\"https:\/\/www.youtube.com\/watch?v=MVfsmQoc-XQ&amp;list=PLPGcigDEy-qj0I1um2ByEqy4a1IdVRjzf&amp;index=27&amp;t=0s\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>S\u00ebmundja Batten<\/strong><\/em><\/a><br \/>\nKNS E75.4<br \/>\nBatten disease<\/p>\n<p>S\u00ebmundja Batten \u00ebsht\u00eb s\u00ebmundje e rrall\u00eb, s\u00ebmundje fatale e sistemit nervor (neurodegjenerative) e trash\u00ebguar n\u00eb form\u00ebn autosomale recisive, q\u00eb fillon n\u00eb f\u00ebmij\u00ebri. Emrin e ka fituar nga pediatri britanik Frederik Batten, i cili p\u00ebr her\u00eb t\u00eb par\u00eb e ka p\u00ebrshkruar form\u00ebn juvenile t\u00eb lipofuscinoz\u00ebs ceroide neuronale n\u00eb vitin 1903. Sot, emri i tij p\u00ebrdoret p\u00ebr t\u00eb tri format e s\u00ebmundjes: infantile, e vonshme infantile dhe forma e LCN q\u00eb shfaqet n\u00eb mosh\u00ebn tinejxhere.<br \/>\n\u00c7do form\u00eb e ka t\u00eb njejtin shkak themelor: mutacion n\u00eb gjenin q\u00eb shkakton munges\u00eb t\u00eb enzim\u00ebs p\u00ebr menjanimin e \u201cmbeturinave\u201d nga qelizat e sistemit nervor qendror (k\u00ebta \u201cmbeturina\u201d jan\u00eb produkt i d\u00ebmsh\u00ebm i metabolizmit normal qelizor).<br \/>\nPa k\u00ebt\u00eb enzim\u00eb, n\u00eb brend\u00ebsin\u00eb e neuroneve t\u00eb trurit, organelet e vogla qelizore t\u00eb quajtura lizozome mbeten t\u00eb \u201cbllokuara\u201d me materje toksike. Si rezultat, f\u00ebmij\u00ebt me s\u00ebmundjen Batten vuajn\u00eb nga sulmet epileptike, gradualisht duke e humbur funksionin motorik, t\u00eb pamurit dhe aft\u00ebsit\u00eb mendore, dhe m\u00eb n\u00eb fund mbeten krejt\u00ebsisht t\u00eb verb\u00ebr, t\u00eb lidhur n\u00eb shtrat dhe t\u00eb paaft\u00eb p\u00ebr t\u00eb komunikuar.<br \/>\nEkzistojne 4 tipe kryesore t\u00eb s\u00ebmundjes Batten, duke p\u00ebrfshir\u00eb 2 tipet q\u00eb fillojn\u00eb her\u00ebt n\u00eb f\u00ebmij\u00ebri dhe tipi jasht\u00ebzakonisht i rrall\u00eb q\u00eb shfaqet te t\u00eb rriturit. Simptomat jan\u00eb t\u00eb njejta, por shfaqen n\u00eb periudha t\u00eb ndryshme dhe progredojn\u00eb me shpejt\u00ebsi t\u00eb ndryshme.<\/p>\n<p>Forma infantile<br \/>\nFillon mes 6 muajsh dhe 2 vje\u00e7 dhe ka nj\u00eb progresion shum\u00eb t\u00eb shpejt\u00eb. F\u00ebmij\u00ebt me k\u00ebt\u00eb s\u00ebmundje nuk zhvillohen normal dhe kan\u00eb nj\u00eb kok\u00eb t\u00eb vog\u00ebl (mikrocefali) q\u00eb bie n\u00eb sy. Gjithashtu, jan\u00eb karakteristike ng\u00ebr\u00e7et e shkurta n\u00eb muskuj ose si\u00e7 quhen ng\u00ebr\u00e7e mioklonike. Shenjat e para t\u00eb k\u00ebsaj s\u00ebmundjeje p\u00ebrfshijn\u00eb: ngecje n\u00eb zhvillimin psikomotorik me p\u00ebrkeq\u00ebsim progresiv, \u00e7rregullime tjera motorike dhe sulme epileptike. Kjo form\u00eb ka nj\u00eb progresion shum\u00eb t\u00eb shpejt\u00eb dhe mbaron me vdekje zakonisht mes mosh\u00ebs 8-12 vje\u00e7.<\/p>\n<p>Forma e Lipofuscinoz\u00ebs ceroide neuronale (LCN) q\u00eb shfaqet n\u00eb mosh\u00ebn tinejxhere<br \/>\nFillon nga mosha 5 gjer 8 vje\u00e7. Shenjat tipike jan\u00eb humbja progresive e t\u00eb pamurit, sulme epileptike, ataksi. Ky tip p\u00ebrparon me m\u00eb pak shpejt\u00ebsi dhe mbarron me vdekje n\u00eb vitet e vonshme tinejxhere ose n\u00eb fillim t\u00eb t\u00eb nj\u00ebzetave, edhe pse ka pasur raste t\u00eb pacient\u00ebve q\u00eb kan\u00eb jetuar 30 vjet.<\/p>\n<p>Forma e t\u00eb rriturve ose Lipofuscinoza ceroide neuronale (LCN)<br \/>\nZakonisht fillon para mosh\u00ebs 40 vje\u00e7are dhe shkakton simptoma m\u00eb t\u00eb lehta q\u00eb p\u00ebrparojn\u00eb m\u00eb ngadal\u00eb dhe nuk shkaktojn\u00eb verb\u00ebrim. Edhe pse koha e vdekjes ndryshon nga rasti n\u00eb rast, ky tip prap\u00eb se prap\u00eb e shkurton jet\u00ebgjat\u00ebsin\u00eb.<\/p>\n<p>Trash\u00ebgimia<br \/>\nF\u00ebmij\u00ebt me Lipofuscinoz\u00ebn ceroide neuronale (LCN) takojn\u00eb n\u00eb \u00e7rregullimet autosomale recisive, q\u00eb do t\u00eb thot\u00eb s\u00ebmundja ndodh kur f\u00ebmija do t\u00eb trash\u00ebgoj\u00eb 2 kopje t\u00eb gjenit me difekt, nga secili prind nga nj\u00eb. Kur edhe n\u00ebna edhe babai bartin nga nj\u00eb gjen me difekt, \u00e7do njeri nga f\u00ebmij\u00ebt e tyre ka 25% gjasa p\u00ebr zhvillim t\u00eb LCN. N\u00eb t\u00eb njejt\u00ebn koh\u00eb, ekziston mund\u00ebsia q\u00eb 50% e f\u00ebmij\u00ebve t\u00eb trash\u00ebgojn\u00eb vet\u00ebm nj\u00eb kopje t\u00eb gjenit me difekt. Personat e till\u00eb jan\u00eb bart\u00ebs t\u00eb s\u00ebmundjes, ashtu q\u00eb te ata nuk shfaqet s\u00ebmundja, por mund ta bartin at\u00eb gjen te f\u00ebmij\u00ebt e tyre.<\/p>\n<p>Diagnostikimi<br \/>\nPasi q\u00eb humbja e t\u00eb pamurit \u00ebsht\u00eb shenj\u00eb e hershme, s\u00ebmundja Batten mund t\u00eb v\u00ebrrehet edhe nga ekzaminimi i syve. Okulisti mund t\u00eb v\u00eb re p\u00ebrkeq\u00ebsimin e nervit optik q\u00eb haset n\u00eb te tre format pediatrike t\u00eb LCN-s\u00eb. Por, pasi q\u00eb nj\u00eb shk\u00ebputje e till\u00eb e nervit haset edhe te s\u00ebmundjet tjera t\u00eb syrit, kjo mund t\u00eb mos jet\u00eb tregues p\u00ebrfundimtar, por mund t\u00eb shfryt\u00ebzoj\u00eb p\u00ebr referimin e f\u00ebmij\u00ebs tek neurologu p\u00ebr konsult\u00eb. Nevojiten teste t\u00eb ndryshme p\u00ebr konfirmimin m\u00eb specifik t\u00eb diagnoz\u00ebs.<br \/>\nTestet diagnostike p\u00ebr s\u00ebmundjen Batten p\u00ebrfshijn\u00eb teste t\u00eb gjakut dhe t\u00eb urin\u00ebs, marrje t\u00eb mostr\u00ebs nga l\u00ebkura ose indi, EEG, ekzaminim t\u00eb syve, in\u00e7izim dhe testime t\u00eb trurit, si\u00e7 jan\u00eb tomografia kompjuterike ose rezonanca magnetike. Koh\u00ebt e fundit ekziston testim enzimatik i gjakut, q\u00eb \u00ebsht\u00eb e mundshme p\u00ebr form\u00ebn infantile dhe form\u00ebn e vonshme infantile, me q\u00ebllim q\u00eb t\u00eb zbulohet enzima specifike q\u00eb mungon te k\u00ebta \u00e7rregullime.<br \/>\nN\u00eb 27 prill t\u00eb vitit 2017 Administrata amerikane p\u00ebr ushqimin dhe barnat (FDA) e miratoi Brinura (Cerliponase alfa) si trajtim p\u00ebr nj\u00eb form\u00eb specifike t\u00eb s\u00ebmundjes Batten. Brinura \u00ebsht\u00eb trajtimi i par\u00eb i aprovuar nga FDA, me t\u00eb cilin ngadal\u00ebsohet humbja e aft\u00ebsis\u00eb p\u00ebr ecje (ambulacion) te pacient\u00ebt pediatrik simptomatik t\u00eb mosh\u00ebs 3 vje\u00e7 dhe m\u00eb t\u00eb vjet\u00ebr me form\u00ebn e vonshme infantile t\u00eb k\u00ebsaj s\u00ebmundjeje.<br \/>\nMedikamenti Brinura injektohet direkt n\u00eb tru, p\u00ebrmes nj\u00eb kateteri i cili \u00ebsht\u00eb i vendosur nj\u00eb jav\u00eb m\u00eb par\u00eb, n\u00eb kushte sterile q\u00eb t\u00eb zvog\u00eblohet rreziku p\u00ebr infeksione.<br \/>\nMedikamenti duhet transportuar n\u00eb akull t\u00eb that\u00eb (dioksid karboni n\u00eb gj\u00ebndje agregate t\u00eb ngurt\u00eb n\u00eb temperatur\u00eb -79 grad\u00eb Celsius).<br \/>\nMedikamenti i plot\u00ebson enzimat q\u00eb i mungojn\u00eb organizmit, p\u00ebr shkak t\u00eb cilave nuk shp\u00ebrb\u00ebhen substancat e caktuara, m\u00eb s\u00eb shumti n\u00eb tru, dhe si pasoj\u00eb ndodh d\u00ebmtimi i qelizave t\u00eb trurit. Ky preparat duhet t\u00eb aplikohet n\u00eb vazhdim\u00ebsi t\u00ebr\u00eb jet\u00ebn.<\/p>\n\n<div style=\"font-size: 0px; height: 0px; line-height: 0px; margin: 0; padding: 0; clear: both;\"><\/div>","protected":false},"excerpt":{"rendered":"<p>S\u00ebmundja Batten KNS E75.4 Batten disease S\u00ebmundja Batten \u00ebsht\u00eb s\u00ebmundje e rrall\u00eb, s\u00ebmundje fatale e sistemit nervor (neurodegjenerative) e trash\u00ebguar [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":107709,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"","inline_featured_image":false},"categories":[1794],"tags":[],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/26-Batten-disease-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/26-Batten-disease-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"3042","source":"\u0421\u043a\u043e\u043f\u0458\u0435, (\u0421\u0410\u041a\u0410\u041c\u0414\u0410\u041a\u0410\u0416\u0410\u041c.\u041c\u041a)","yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v15.0 - 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