{"id":188016,"date":"2023-02-05T12:00:51","date_gmt":"2023-02-05T11:00:51","guid":{"rendered":"https:\/\/sdk.mk\/?p=188016"},"modified":"2023-02-05T12:00:51","modified_gmt":"2023-02-05T11:00:51","slug":"ju-njoftojme-me-semundjet-e-rralla-sindroma-potocki-lupski","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-potocki-lupski\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA POTOCKI-LUPSKI"},"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=OR3w7tt6vTE&amp;list=PLPGcigDEy-qgR2zVetKogPsjWUrslN1gR&amp;index=5\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Sindroma Potocki-Lupski\/Potocki-Lupski syndrome<\/strong><\/em><\/a><br \/>\nICD Q 92.3<br \/>\nPrevalenca: 1\/25.000<\/p>\n<p>Sindroma Potoki-Lupski \u00ebsht\u00eb nj\u00eb s\u00ebmundje gjenetike q\u00eb shfaqet si rezultat i dyfishimit t\u00eb nj\u00eb pjese t\u00eb vog\u00ebl t\u00eb kromozomit 17, konkretisht krahut t\u00eb tij t\u00eb shkurt\u00ebr n\u00eb pozicionin p11.2. T\u00eb s\u00ebmur\u00ebt kan\u00eb zhvillim t\u00eb ngadalt\u00eb, hipotoni, probleme me t\u00eb ushqyerit dhe disa hyjn\u00eb n\u00eb spektrin autik. S\u00ebmundja trash\u00ebgohet n\u00eb m\u00ebnyr\u00eb autosomale dominante, por shumica e pacient\u00ebve jan\u00eb rezultat i nj\u00eb mutacioni &#8220;de novo&#8221;. Dyfishimi u p\u00ebrshkrua p\u00ebr her\u00eb t\u00eb par\u00eb me publikimin e nj\u00eb pacienti t\u00eb prekur. N\u00eb vitin 2000 u publikua studimi i par\u00eb p\u00ebr s\u00ebmundjen dhe n\u00eb vitin 2007 u mblodh\u00ebn mjaft pacient\u00eb p\u00ebr t\u00eb p\u00ebrfunduar nj\u00eb studim gjith\u00ebp\u00ebrfshir\u00ebs dhe p\u00ebr t\u00eb ofruar nj\u00eb p\u00ebrshkrim t\u00eb detajuar klinik. Kjo sindrom\u00eb \u00ebsht\u00eb em\u00ebruar pas dy studiuesve t\u00eb p\u00ebrfshir\u00eb n\u00eb fazat p\u00ebrfundimtare, Dr. Lorraine Potocki dhe James R. Lupsky i Kolegjit t\u00eb Mjek\u00ebsis\u00eb Baylor.<\/p>\n<p><em><strong>Shkaqet:<\/strong><\/em><br \/>\nDy t\u00eb tretat e t\u00eb s\u00ebmur\u00ebve kan\u00eb nj\u00eb dyfishim t\u00eb pjes\u00ebs 17p11.2 t\u00eb kromozomit 17, i cili p\u00ebrfshin 3.7 milion\u00eb \u00e7ifte bazash t\u00eb ADN-s\u00eb. Ndryshe nga kjo, fshirja e s\u00eb nj\u00ebjt\u00ebs pjes\u00eb quhet sindroma Smith-Magenis. N\u00eb nj\u00eb t\u00eb tret\u00ebn e mbetur t\u00eb rasteve, dyfishimi \u00ebsht\u00eb m\u00eb i gjat\u00eb ose m\u00eb i shkurt\u00ebr. T\u00eb gjitha k\u00ebto dyfishime p\u00ebrfshijn\u00eb vet\u00ebm nj\u00eb nga dy 17-kromozomet n\u00eb \u00e7do qeliz\u00eb. Megjith\u00ebse rajoni i dyfishuar p\u00ebrmban shum\u00eb gjene, megjithat\u00eb, studiuesit kan\u00eb zbuluar se nj\u00eb kopje shtes\u00eb e nj\u00eb gjeni t\u00eb quajtur RAI1 \u00ebsht\u00eb p\u00ebrgjegj\u00ebs p\u00ebr shumic\u00ebn e simptomave t\u00eb s\u00ebmundjes. Gjegj\u00ebsisht, \u00ebsht\u00eb nj\u00eb gjen q\u00eb jep informacione p\u00ebr prodhimin e proteinave q\u00eb jan\u00eb p\u00ebrgjegj\u00ebse p\u00ebr funksionin e gjeneve t\u00eb tjera, shumica e t\u00eb cilave ende nuk jan\u00eb zbuluar. Nuk \u00ebsht\u00eb zbuluar se sa kopje shtes\u00eb t\u00eb k\u00ebtij gjeni \u00e7ojn\u00eb n\u00eb paaft\u00ebsi intelektuale, si dhe n\u00eb shenja dhe simptoma t\u00eb tjera t\u00eb k\u00ebsaj s\u00ebmundjeje, prandaj edhe n\u00eb at\u00eb fush\u00eb po b\u00ebhen k\u00ebrkime.<\/p>\n<p><em><strong>Simptomat:<\/strong><\/em><br \/>\nSimptomat dhe ashp\u00ebrsia e s\u00ebmundjes ndryshojn\u00eb nga nj\u00eb person n\u00eb tjetrin, ato mund t\u00eb jen\u00eb jo aq t\u00eb shprehura dhe diagnoza mund t\u00eb b\u00ebhet m\u00eb von\u00eb. Simptomat p\u00ebrfshijn\u00eb:<br \/>\n&#8211; defekte t\u00eb lindura t\u00eb zemr\u00ebs;<br \/>\n&#8211; hipotoni;<br \/>\n&#8211; t\u00eb ushqyerit e v\u00ebshtir\u00eb;<br \/>\n&#8211; foshnja nuk p\u00ebrparon;<br \/>\n&#8211; vones\u00eb motorike dhe verbale;<br \/>\n&#8211; paaft\u00ebsi intelektuale;<br \/>\n&#8211; probleme t\u00eb sjelljes, hiperaktivitet, munges\u00eb v\u00ebmendjeje, t\u00ebrheqje n\u00eb vete;<br \/>\n&#8211; autiz\u00ebm;<br \/>\n&#8211; \u00e7rregullime neuropsikiatrike si bipolaritet ose anksiozitet;<br \/>\n&#8211; nevojiten studime afatgjata q\u00eb do t\u00eb p\u00ebrfshijn\u00eb f\u00ebmij\u00eb dhe t\u00eb rritur me k\u00ebt\u00eb sindrom\u00eb p\u00ebr t\u00eb identifikuar gam\u00ebn e ndryshueshm\u00ebris\u00eb s\u00eb s\u00ebmundjes, problemet q\u00eb shfaqen n\u00eb nj\u00eb mosh\u00eb t\u00eb caktuar, prognoz\u00ebn e s\u00ebmundjes etj.;<br \/>\n&#8211; simptoma t\u00eb tjera p\u00ebrfshijn\u00eb: problemet e d\u00ebgjimit, problemet dentare, anomalit\u00eb e skeletit dhe veshkave n\u00eb zhvillim dhe funksion, probleme me gjumin, anomali delikate t\u00eb fytyr\u00ebs ku qoshet e jashtme t\u00eb syve kthehen posht\u00eb, fytyr\u00eb trek\u00ebndore, ball\u00eb t\u00eb gjer\u00eb, nofulle t\u00eb vog\u00ebl, sy t\u00eb gjer\u00eb (hiperteloriz\u00ebm ).<\/p>\n<p><em><strong>Pasojat:<\/strong><\/em><br \/>\nFoshnjat shfaqin hipotoni, v\u00ebshtir\u00ebsi n\u00eb t\u00eb ushqyer, nuk shtojn\u00eb pesh\u00eb dhe gjat\u00ebsi, dhe jan\u00eb gjithmon\u00eb m\u00eb t\u00eb shkurt\u00ebr se nj\u00eb f\u00ebmij\u00eb me zhvillim tipik. Rreth 40% kan\u00eb nj\u00eb defekt t\u00eb lindur n\u00eb zem\u00ebr q\u00eb mund t\u00eb jet\u00eb k\u00ebrc\u00ebnuese p\u00ebr jet\u00ebn. P\u00ebr m\u00eb tep\u00ebr, ata vonojn\u00eb n\u00eb zhvillim, n\u00eb t\u00eb folur, kan\u00eb aft\u00ebsi t\u00eb dob\u00ebta motorike, v\u00ebshtir\u00ebsi n\u00eb ulje, zvarritje, ecje. Me rritjen e mosh\u00ebs manifestojn\u00eb aft\u00ebsi t\u00eb kufizuara intelektuale q\u00eb ndryshojn\u00eb nga t\u00eb lehta n\u00eb t\u00eb moderuara, t\u00eb folur t\u00eb v\u00ebshtir\u00eb, probleme t\u00eb sjelljes, autiz\u00ebm etj.<\/p>\n<p><em><strong>Trajtimi:<\/strong><\/em><br \/>\nTrajtimi i k\u00ebsaj sindrome varet nga ashp\u00ebrsia e s\u00ebmundjes dhe p\u00ebrfshin nj\u00eb qasje t\u00eb nd\u00ebrlikuar multidisiplinare t\u00eb nj\u00eb ekipi mjek\u00ebsh (kardiolog\u00eb dhe kardiokirurg\u00eb pediat\u00ebr, nefrolog\u00eb, ortoped\u00eb, fizioterapist\u00eb, logoped\u00eb, defektolog\u00eb, psikolog\u00eb, psikiat\u00ebr). Nd\u00ebrhyrja e hershme \u00ebsht\u00eb shum\u00eb e r\u00ebnd\u00ebsishme dhe fillon menj\u00ebher\u00eb pas diagnoz\u00ebs.<\/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>Sindroma Potocki-Lupski\/Potocki-Lupski syndrome ICD Q 92.3 Prevalenca: 1\/25.000 Sindroma Potoki-Lupski \u00ebsht\u00eb nj\u00eb s\u00ebmundje gjenetike q\u00eb shfaqet si rezultat i dyfishimit [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":188018,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"no","inline_featured_image":false},"categories":[3087],"tags":[],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2023\/02\/05-Potocki-Lupski-syndrome-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2023\/02\/05-Potocki-Lupski-syndrome-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"47","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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