{"id":139204,"date":"2021-02-16T07:20:44","date_gmt":"2021-02-16T06:20:44","guid":{"rendered":"https:\/\/sdk.mk\/?p=139204"},"modified":"2021-02-16T07:20:44","modified_gmt":"2021-02-16T06:20:44","slug":"ju-njoftojme-me-semundjet-e-rralla-sindromi-pierre-robin","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-sindromi-pierre-robin\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMI PIERRE-ROBIN"},"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=qxAkHmECK_Y&amp;list=PLPGcigDEy-qjbp5PqAn9GhcRLTEx3PuVd&amp;index=16\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Pierre-Robin syndrome &#8211; Sindromi Pierre-Robin<\/strong><\/em><\/a><br \/>\nICD Q 87.8<br \/>\nPrevalenca: 1-9\/100.000<\/p>\n<p>Sindromi Pierre-Robin (Pjer Roben) \u00ebsht\u00eb s\u00ebmundje e rrall\u00eb e cila p\u00ebrfshin anomali t\u00eb fytyr\u00ebs dhe rrug\u00ebve t\u00eb frym\u00ebmarjes dhe haset tek 1 n\u00eb 10.000 t\u00eb porsalindur. Ky sindrom e ka marr emrin nga stomatologu fran\u00e7ez Pjer Roben, i cili i pari n\u00eb vitin 1923 e p\u00ebrshkruajti nj\u00eb foshnj\u00eb me t\u00eb gjitha shenjat klinike p\u00ebr mikrognati t\u00eb lindur me \u00e7arje t\u00eb qiellz\u00ebs dhe glosoptoz\u00eb. S\u00eb fundmi \u00ebsht\u00eb konstatuar q\u00eb b\u00ebhet fjal\u00eb p\u00ebr s\u00ebmundje gjenetike, e lidhur me \u00e7rregullime n\u00eb kromozomet 2, 11 dhe 17. \u00cbsht\u00eb zbuluar q\u00eb s\u00ebmundja \u00ebsht\u00eb pak m\u00eb e shpesht\u00eb tek bineq\u00ebt. Kjo ndodh nga kompresioni gjat\u00eb zhvillimit n\u00eb mit\u00ebr gj\u00eb q\u00eb e kufizon rritjen dhe l\u00ebvizjen e nofull\u00ebs s\u00eb poshtme.<\/p>\n<p>Pasqyra klinike:<\/p>\n<p>Sindromi karakterizohet me k\u00ebta tre simptoma ky\u00e7e: \u00e7arje t\u00eb qiellz\u00ebs, mikrognati (pozicion abnormal i nofull\u00ebs) dhe glosoptoz\u00eb (gjuha e vendosur prapa n\u00eb fyt q\u00eb shkakton opstrukcion t\u00eb rrug\u00ebve t\u00eb frym\u00ebmarrjes). Glosoptoza \u00ebsht\u00eb shenja dominante, nd\u00ebrsa \u00e7arja e qiellz\u00ebs nuk \u00ebsht\u00eb \u00e7do her\u00eb prezente. Kjo sekuenc\u00eb gjithashtu mund t\u00eb jet\u00eb e shoq\u00ebruar me defekte bilaterale t\u00eb syve, glaukom\u00eb, shqyerje t\u00eb retin\u00ebs dhe anomali t\u00eb zemr\u00ebs. Infeksionet e shpeshta t\u00eb vesh\u00ebve mund t\u00eb d\u00ebmtojn\u00eb d\u00ebgjimin, mund t\u00eb ken\u00eb edhe ndryshim t\u00eb form\u00ebs s\u00eb hund\u00ebs, deformime t\u00eb dh\u00ebmb\u00ebve, refluks gastroezofageal, probleme kardiovaskulare, asfiksi si rezultat i opstruksionit t\u00eb rrug\u00ebve t\u00eb frym\u00ebmarjes nga glosoptoza.<br \/>\nDiagnostikimi:<br \/>\nDiagnoza b\u00ebhet qysh n\u00eb lindje n\u00eb baz\u00eb t\u00eb shenjave klinike. Madje nofulla e ul\u00ebt (retrognatia) mund t\u00eb shihet edhe me ultraz\u00eb ende pa lindur f\u00ebmija dhe k\u00ebshtu t\u00eb p\u00ebrcaktohet diagnoza prenatale. Gjithashtu para lindjes mund t\u00eb v\u00ebrrehet q\u00eb ka m\u00eb shum\u00eb l\u00ebng amniotik dhe kjo e rrit dyshimin. Qiellza e \u00e7ar\u00eb nuk mund t\u00eb shihet n\u00eb ultraz\u00eb por n\u00ebse pozita e gjuh\u00ebs \u00ebsht\u00eb abnormale (e vendosur prapa dhe lart\u00eb n\u00eb zgavr\u00ebn e goj\u00ebs) e p\u00ebrd\u00ebfton akoma m\u00eb shum\u00eb diagnoz\u00ebn. Konsulti gjenetik duhet tu ofrohet t\u00eb gjitha familjeve, madje edhe n\u00eb raste sporadike.<br \/>\nTrajtimi i sindromit Pierre-Robin:<br \/>\nTerapia mund t\u00eb jet\u00eb konservative dhe kirurgjikale.<br \/>\nNuk rekomandohet q\u00eb f\u00ebmija t\u00eb ushqehet n\u00eb pozit\u00eb horizontale pasi q\u00eb ekziston rreziku ushqimi t\u00eb futet n\u00eb traktit respirator.<br \/>\nN\u00eb qoft\u00eb se nofulla \u00ebsht\u00eb shum\u00eb e vog\u00ebl, e pazhvilluar, rekomandohet trajtim kirurgjikal q\u00eb gjuha t\u00eb rivendoset n\u00eb pozit\u00eb normale fiziologjike. N\u00eb rastet e v\u00ebshtira, gjuha \u00ebsht\u00eb e t\u00ebrhequr dhe e lidhur p\u00ebr buz\u00ebn e poshtme.<br \/>\nT\u00eb ushqyerit n\u00eb pozit\u00eb vertikale mund t\u00eb ndihmoj\u00eb, por n\u00eb disa raste g\u00eblltitja \u00ebsht\u00eb e pakoordinuar dhe nga ky shkak f\u00ebmija ka nevoj\u00eb t\u00eb ushqehet me sond\u00eb nazogastrike.<br \/>\n(radio jingle I njohim s\u00ebmundjet e rralla)<br \/>\nSi solucion e fundit, jan\u00eb trakeostoma dhe gastrostoma q\u00eb t\u00eb mund\u00ebsohet frym\u00ebmarje dhe t\u00eb ushqyer pa pengesa.<br \/>\nRiparim kirurgjik gjithashtu b\u00ebhet edhe p\u00ebr mbylljen e \u00e7arjes s\u00eb qiellz\u00ebs, ashtu q\u00eb ekziston teknik\u00eb operative q\u00eb nj\u00ebkohsisht b\u00ebn edhe l\u00ebvizjen e gjuh\u00ebs duke e shfryt\u00ebzuar mukoz\u00ebn e zgavr\u00ebs s\u00eb goj\u00ebs.<br \/>\nTerapia e ligj\u00ebrimit ndihmon tek problemet t\u00eb lidhura me t\u00eb folurin, d\u00ebgjimin dhe nofull\u00ebn te f\u00ebmij\u00ebt me k\u00ebt\u00eb sekuenc\u00eb.<br \/>\nPrognoza dhe rrjedha e s\u00ebmundjes jan\u00eb serioze. Zakonisht n\u00eb dit\u00ebt e para t\u00eb jet\u00ebs kur b\u00ebhet fjal\u00eb p\u00ebr form\u00eb t\u00eb shprehur t\u00eb s\u00ebmundjes mund t\u00eb vij\u00eb edhe te vdekja (nga ngulfatja). Gjithashtu, rrreziku p\u00ebr vdekje gjat\u00eb vitit t\u00eb pare t\u00eb jet\u00ebs \u00ebsht\u00eb i lart\u00eb p\u00ebr shkak t\u00eb infeksioneve t\u00eb shumta. Te pacient\u00ebt mbi dy vje\u00e7 prognoza \u00ebsht\u00eb e volitshme.<\/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>Pierre-Robin syndrome &#8211; Sindromi Pierre-Robin ICD Q 87.8 Prevalenca: 1-9\/100.000 Sindromi Pierre-Robin (Pjer Roben) \u00ebsht\u00eb s\u00ebmundje e rrall\u00eb e cila [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":139202,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"no","inline_featured_image":false},"categories":[1794],"tags":[],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/16-Pjer-Roben-sindrom-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/16-Pjer-Roben-sindrom-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"689","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 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMI PIERRE-ROBIN - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-sindromi-pierre-robin\/\" \/>\n<meta property=\"og:locale\" content=\"mk_MK\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMI PIERRE-ROBIN - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Pierre-Robin syndrome &#8211; 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