{"id":139863,"date":"2021-02-23T08:09:40","date_gmt":"2021-02-23T07:09:40","guid":{"rendered":"https:\/\/sdk.mk\/?p=139863"},"modified":"2021-02-23T08:09:40","modified_gmt":"2021-02-23T07:09:40","slug":"ju-njoftojme-me-semundjet-e-rralla-sindroma-pitt-hopkins","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-sindroma-pitt-hopkins\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA PITT-HOPKINS"},"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=Sdep_B0LzdU&amp;list=PLPGcigDEy-qjbp5PqAn9GhcRLTEx3PuVd&amp;index=23\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Pitt-Hopkins syndrome -Sindroma Pitt-Hopkins<\/strong><\/em><\/a><\/p>\n<p>ICD Q 87.0<br \/>\nPrevalenca: 1-9\/1.000.000<br \/>\nSindroma Pitt-Hopkins \u00ebsht\u00eb nj\u00eb s\u00ebmundje q\u00eb karakterizohet me paaft\u00ebsi intelektuale, probleme me frym\u00ebmarrjen, sulme epileptike p\u00ebrs\u00ebrit\u00ebse dhe tipare t\u00eb ve\u00e7anta t\u00eb fytyr\u00ebs. Personat me k\u00ebt\u00eb sindrom\u00eb kan\u00eb aft\u00ebsi t\u00eb kufizuara intelektuale t\u00eb moderuara deri t\u00eb r\u00ebnda. Ata gjithashtu kan\u00eb zhvillim t\u00eb ngadalt\u00eb psikomotor, fillojn\u00eb t\u00eb ecin me vones\u00eb gjithashtu edhe motorika fine vonon, si\u00e7 \u00ebsht\u00eb kapja e sendeve me gishta e jo me p\u00ebll\u00ebmb\u00eb. Ata pothuajse kurr\u00eb nuk m\u00ebsojn\u00eb t\u00eb flasin, fjalori i tyre p\u00ebrb\u00ebhet kryesisht nga 2-3 fjal\u00eb t\u00eb artikuluara v\u00ebshtir\u00eb. Shum\u00eb prej tyre kan\u00eb karakteristikat e \u00e7rregullimeve t\u00eb spektrit t\u00eb autizmit me komunikim dhe socializim t\u00eb v\u00ebshtir\u00eb. Problemet e frym\u00ebmarrjes manifestohen me episode t\u00eb frym\u00ebmarrjes s\u00eb shpejt\u00eb (hiperventilim), e ndjekur nga nj\u00eb periudh\u00eb e frym\u00ebmarrjes s\u00eb ngadalt\u00eb ose nd\u00ebrprerje e plot\u00eb e saj (apnea), e cila \u00e7on n\u00eb munges\u00eb t\u00eb oksigjenit n\u00eb trup me ngjyrim blu t\u00eb goj\u00ebs dhe l\u00ebkur\u00ebs (cianoz\u00eb). Mungesa e oksigjenit gjithashtu mund t\u00eb \u00e7oj\u00eb n\u00eb humbjen e vet\u00ebdijes. V\u00ebshtir\u00ebsit\u00eb me frym\u00ebmarrjen shfaqen tek f\u00ebmij\u00ebt m\u00eb t\u00eb rritur, por gjithashtu mund t\u00eb fillojn\u00eb n\u00eb f\u00ebmij\u00ebrin\u00eb e hershme. Zakonisht k\u00ebto episode provokohen nga shqet\u00ebsimi ose lodhja e tep\u00ebrt. Epilepsia shfaqet n\u00eb f\u00ebmij\u00ebri, por nganj\u00ebher\u00eb edhe menj\u00ebher\u00eb pas lindjes. F\u00ebmij\u00ebt me sindrom\u00ebn Pitt-Hopkins kan\u00eb tipare karakteristike t\u00eb fytyr\u00ebs, me vetulla t\u00eb holla, sy t\u00eb futura, lakim i theksuar i buz\u00ebs s\u00eb sip\u00ebrme, nj\u00eb goj\u00eb e gjer\u00eb me buz\u00eb t\u00eb m\u00ebdha dhe dh\u00ebmb\u00eb t\u00eb rralla. F\u00ebmij\u00ebt zakonisht duken t\u00eb lumtur, t\u00eb qeshur dhe shpesh duartrokasin. Por ata gjithashtu mund t\u00eb jen\u00eb edhe n\u00eb ankth dhe t\u00eb shfaqin agresion. Tiparet tjera shoq\u00ebruese jan\u00eb: kapsll\u00ebku, koka e vog\u00ebl (mikrocefalia), shtati i shkurt\u00ebr, anomali t\u00eb vogla t\u00eb trurit. Duart dhe shputat e vogla jan\u00eb gjithashtu tipike, dhe n\u00eb p\u00ebll\u00ebmb\u00eb mund t\u00eb ket\u00eb vet\u00ebm nj\u00eb vij\u00eb t\u00eb vetme. Gjithashtu kan\u00eb shputa t\u00eb rrafshta. Tek meshkujt, testikujt jan\u00eb t\u00eb pazbritur n\u00eb skrotume. Mund t\u00eb ken\u00eb gjithashtu strabiz\u00ebm si dhe miopi.<br \/>\n(radio jingle I njohim s\u00ebmundjet e rralla)<br \/>\nS\u00ebmundja \u00ebsht\u00eb shum\u00eb e rrall\u00eb, vler\u00ebsohet se ka 500 individ\u00eb me k\u00ebt\u00eb s\u00ebmundje n\u00eb t\u00eb gjith\u00eb bot\u00ebn. S\u00ebmundja nuk trash\u00ebgohet sepse individ\u00ebt jan\u00eb steril\u00eb. Prind\u00ebrit e tyre jan\u00eb t\u00eb sh\u00ebndetsh\u00ebm. Mutacioni ndodh p\u00ebr her\u00eb t\u00eb par\u00eb te personi i s\u00ebmur\u00eb. S\u00ebmundja u p\u00ebrshkrua p\u00ebr her\u00eb t\u00eb par\u00eb nga Pitt dhe Hopkins n\u00eb \u201cAustralian Journal of Pediatrics\u201d n\u00eb vitin 1978, i cili prezantoi dy pacient\u00eb q\u00eb nuk ishin t\u00eb nj\u00eb familjeje. Lidhshm\u00ebria me TCF-4 nuk u gjet deri n\u00eb vitin 2007 &#8211; kur u zbulua q\u00eb gjeni TCF-4 luan nj\u00eb rol t\u00eb r\u00ebnd\u00ebsish\u00ebm n\u00eb zhvillimin e sistemit nervor qendror dhe trurit.<br \/>\nS\u00ebmundja shfaqet p\u00ebr shkak t\u00eb defektit, d.m.th. funksioni i pamjaftuesh\u00ebm i faktorit t\u00eb transkripcionit-4. Gjeni q\u00eb kodon k\u00ebt\u00eb faktor quhet TCF-4. Ai ndodhet n\u00eb krahun e gjat\u00eb t\u00eb kromozomit 18. Prind\u00ebrit jan\u00eb t\u00eb sh\u00ebndetsh\u00ebm, por n\u00eb gametet e tyre (qeliza vez\u00eb dhe spermatozoide) ata mund t\u00eb ken\u00eb qeliza t\u00eb tilla q\u00eb bartin nj\u00eb mutacion dhe e kalojn\u00eb at\u00eb tek f\u00ebmija. Prandaj, n\u00eb raste jasht\u00ebzakonisht t\u00eb rralla, \u00ebsht\u00eb e mundur q\u00eb dy f\u00ebmij\u00eb t\u00eb nj\u00eb personi ta ken\u00eb s\u00ebmundjen. Proteina TCF-4 \u00ebsht\u00eb e r\u00ebnd\u00ebsishme p\u00ebr qelizat nervore. Ato kan\u00eb zgjatje t\u00eb quajtura sinapsa me t\u00eb cilat qelizat nervore lidhen me nj\u00ebra-tjetr\u00ebn, duke krijuar rrjete p\u00ebr p\u00ebr\u00e7im t\u00eb sinjaleve. Sa m\u00eb i madh \u00ebsht\u00eb rrjet\u00ebzimi, aq m\u00eb t\u00eb zhvilluara jan\u00eb funksionet intelektuale t\u00eb individit. P\u00ebr shkak se n\u00eb sindrom\u00ebn Pitt-Hopkins nj\u00eb nga dy gjenet \u00ebsht\u00eb me mutacion, proteina TCF-4 prodhohet n\u00eb sasi t\u00eb pamjaftueshme, dhe kjo zvog\u00eblon sinapsat e qelizave nervore. Interesant jan\u00eb studimet p\u00ebr skizofrenin\u00eb ku aktiviteti i t\u00eb dy gjeneve TCF-4 \u00ebsht\u00eb shum\u00eb i shprehur dhe prodhohet sasi e madhe e protein\u00ebs \u200b\u200bq\u00eb \u00e7on n\u00eb nj\u00eb rrjet\u00ebzim t\u00eb madh dhe shkakton &#8220;kaos&#8221; te individi.<br \/>\nNj\u00eb dekurs klinik t\u00eb ngjash\u00ebm me sindrom\u00ebn Pitt-Hopkins mund t\u00eb shihet tek individ\u00ebt q\u00eb kan\u00eb mutacione n\u00eb dy gjene tjera CNTNAP-2 n\u00eb krahun e gjat\u00eb t\u00eb kromozomit 7 dhe NRXN-1 n\u00eb krahun e shkurt\u00ebr t\u00eb kromozomit 2.<br \/>\nDiagnoza:<br \/>\nNuk ekzistojn\u00eb kritere diagnostike, por prezenca e simptomave t\u00eb caktuara mb\u00ebshtesin diagnoz\u00ebn e sindrom\u00ebs Pitt-Hopkins. K\u00ebto jan\u00eb dismorfia e fytyr\u00ebs, ngadal\u00ebsimi i hersh\u00ebm psikomotor, paaft\u00ebsia e r\u00ebnd\u00eb intelektuale, problemet me frym\u00ebmarrjen dhe mungesa e anomalive t\u00eb tjera kongjenitale. Gjysma e pacient\u00ebve kan\u00eb sulme epileptike, dhe pjesa tjet\u00ebr kan\u00eb anomali t\u00eb trurit psh corpus callosum hipoplastik. Sipas diagnoz\u00ebs klinike kjo sindrom\u00eb takon n\u00eb grupin e \u00e7rregullimeve pervazive t\u00eb zhvillimit.<br \/>\nSidoqoft\u00eb, duhen b\u00ebr\u00eb konsultat q\u00eb vijojn\u00eb:<br \/>\nVler\u00ebsim t\u00eb zhvillimit;<br \/>\nKonsult\u00eb me specialist p\u00ebr terapi biheviorale;<br \/>\nKonsult\u00eb me pneumolog;<br \/>\nKonsult\u00eb me neurolog;<br \/>\nEkzaminim oftalmologjik;<br \/>\nKonsult\u00eb me gastroenterolog;<br \/>\nVler\u00ebsim muskuloskeletor;<br \/>\nKonsult\u00eb me gjenetist klinik.<br \/>\nTrajtimi:<br \/>\nAkoma nuk ka ndonj\u00eb trajtim specifik p\u00ebr sindrom\u00ebn Pitt-Hopkins. Asht\u00eb e nevojshme nj\u00eb qasje multidisiplinare. Duhet trajtuar simptoma: antikonvulsant\u00ebt duhet t\u00eb p\u00ebrdoren p\u00ebr epilepsi, ushqim i duhur, terapi fizikale etj. N\u00eb trajtim ky\u00e7et edhe nj\u00eb edukator special, logoped, psikolog zhvillimor brenda nevojave t\u00eb s\u00ebmundjes. N\u00eb fush\u00ebn e terapis\u00eb gjenike, si nj\u00eb mund\u00ebsi reale imponohet qasja farmakogjenetike, dhe konsiston n\u00eb gjetjen e ila\u00e7eve t\u00eb p\u00ebrshtatshme q\u00eb do t\u00eb ndikonin dhe stimulonin gjenin e sh\u00ebndetsh\u00ebm p\u00ebr t\u00eb rritur prodhimin e protein\u00ebs TCF-4.<br \/>\nPrognoza e s\u00ebmundjes:<br \/>\nKursi i s\u00ebmundjes \u00ebsht\u00eb jo-progresiv. Nuk ka t\u00eb dh\u00ebna t\u00eb mjaftueshme nga nj\u00eb ndjekje e gjat\u00eb e pacient\u00ebve, por nuk ka asnj\u00eb arsye p\u00ebr t\u00eb konkluduar se jet\u00ebgjat\u00ebsia e tyre \u00ebsht\u00eb m\u00eb e shkurt\u00eb. P\u00ebr shkak se ata kurr\u00eb nuk do jen\u00eb t\u00eb pavarur, ata t\u00ebr\u00eb jet\u00ebn kan\u00eb nevoj\u00eb p\u00ebr mb\u00ebshtetje.<\/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>Pitt-Hopkins syndrome -Sindroma Pitt-Hopkins ICD Q 87.0 Prevalenca: 1-9\/1.000.000 Sindroma Pitt-Hopkins \u00ebsht\u00eb nj\u00eb s\u00ebmundje q\u00eb karakterizohet me paaft\u00ebsi intelektuale, probleme [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":139861,"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\/23-Pit-Hopkins-sindrom-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/23-Pit-Hopkins-sindrom-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"336","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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