{"id":138554,"date":"2021-02-08T11:13:32","date_gmt":"2021-02-08T10:13:32","guid":{"rendered":"https:\/\/sdk.mk\/?p=138554"},"modified":"2021-02-08T11:13:32","modified_gmt":"2021-02-08T10:13:32","slug":"ju-njoftojme-me-semundjet-e-rralla-sindroma-edwards","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-sindroma-edwards\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA EDWARDS"},"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=oizkRnhkn70&amp;list=PLPGcigDEy-qjbp5PqAn9GhcRLTEx3PuVd&amp;index=8\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Edwards syndrome &#8211; Sindroma Edwards<\/strong><\/em><\/a><br \/>\nICD Q91.0 Q91.1 Q91.2 Q91.3<br \/>\nPrevalenca: 1-9\/1.000.000<\/p>\n<p>Sindroma Edwards, e njohur gjithashtu si trisomia &#8211; 18, \u00ebsht\u00eb nj\u00eb kondicion gjenetik i rrall\u00eb dhe shum\u00eb i v\u00ebshtir\u00eb q\u00eb shkakton nj\u00eb s\u00ebr\u00eb problemesh serioze mjek\u00ebsore. Sindroma \u00ebsht\u00eb em\u00ebruar pas gjenetistit anglez John H. Edwards, i cili e p\u00ebrshkroi p\u00ebr her\u00eb t\u00eb par\u00eb k\u00ebt\u00eb \u00e7rregullim n\u00eb vitin 1960. Incidenca e sindrom\u00ebs Edwards \u00ebsht\u00eb rreth 1: 6,000 t\u00eb sapolindur. Ashtu si me aberacionet e tjera kromozomike, mund\u00ebsia e zhvillimit t\u00eb k\u00ebtij sindromi rritet me mosh\u00ebn e prindit, ve\u00e7an\u00ebrisht me mosh\u00ebn e n\u00ebn\u00ebs. Nuk ka predispozicion racor p\u00ebr trisomin\u00eb 18 por m\u00eb shpesh ndodh tek femrat sesa tek meshkujt (3: 1).<br \/>\nShkaqet p\u00ebr sindroma Edwards:<br \/>\n\u00c7do qeliz\u00eb n\u00eb trup zakonisht p\u00ebrmban 23 pal\u00eb kromozome, t\u00eb cilat bartin gjene t\u00eb trash\u00ebguara nga prind\u00ebrit. Por, pacient\u00ebt me sindrom\u00ebn Edwards kan\u00eb tre kopje t\u00eb kromozomit 18 n\u00eb qelizat e tyre n\u00eb vend t\u00eb dy. Prania e k\u00ebtij kromozomi shtes\u00eb n\u00eb qeliza d\u00ebmton r\u00ebnd\u00eb zhvillimin normal.<br \/>\nSindroma Edwards rrall\u00eb trash\u00ebgohet. Zhvillimi i t\u00eb tre kopjeve t\u00eb kromozomit 18 zakonisht ndodh rast\u00ebsisht gjat\u00eb formimit t\u00eb qelizave vez\u00eb ose spermatozoideve. M\u00eb shpesh, pacient\u00ebt kan\u00eb edhe nj\u00eb kromozom num\u00ebr 18 m\u00eb shum\u00eb n\u00eb t\u00eb gjitha qelizat.<br \/>\nShenjat e sindrom\u00ebs Edwards:<br \/>\nF\u00ebmij\u00ebt me sindrom\u00ebn Edwards mund t\u00eb ken\u00eb nj\u00eb spekt\u00ebr t\u00eb gjer\u00eb problemesh:<br \/>\n&#8211; pesh\u00eb t\u00eb ul\u00ebt n\u00eb lindje;<br \/>\n&#8211; anomali strukturore t\u00eb zemr\u00ebs;<br \/>\n&#8211; anomali strukturore t\u00eb veshkave;<br \/>\n&#8211; retardim mendor dhe zhvillim motorik i vonuar te t\u00eb gjith\u00eb f\u00ebmij\u00ebt;<br \/>\n&#8211; hipotoni e muskujve;<br \/>\n&#8211; atresia t\u00eb ezofagut;<br \/>\n&#8211; stenoz\u00eb pilorike;<br \/>\n&#8211; hernie n\u00eb lokacione t\u00eb ndryshme;<br \/>\n&#8211; artrogripoz\u00eb (kontraktura multiple e nyjeve);<br \/>\n&#8211; v\u00ebshtir\u00ebsi n\u00eb frym\u00ebmarrje si pasoj\u00eb e mushk\u00ebrive t\u00eb pazhvilluara (hipopazi e msuhk\u00ebrive)<br \/>\n&#8211; \u00e7arje t\u00eb qiellz\u00ebs dhe buz\u00ebs;<br \/>\n&#8211; mikrocefali, hidrocefalus, anencefali;<br \/>\n&#8211; nofull t\u00eb poshtme t\u00eb vog\u00ebl (mikrognatia);<br \/>\n&#8211; deformime strukturore t\u00eb laprave t\u00eb veshit;<br \/>\n&#8211; sy t\u00eb dala, sy t\u00eb vegj\u00ebl (mikroftalmi), ptoz\u00eb palpebrale;<br \/>\n&#8211; shtremb\u00ebrim i duarve si kthetra, shputa dhe gishta t\u00eb pazhvilluara, deformime t\u00eb gisht\u00ebrinjve t\u00eb duarve.<br \/>\n&#8211; munges\u00eb e disa eshtrave (radiusi);<br \/>\n&#8211; testikuj t\u00eb pazbritur (kriptorkidiz\u00ebm), penis t\u00eb vog\u00ebl (mikropenis);<br \/>\n&#8211; labia majora t\u00eb pazhvilluara tek vajzat, mit\u00ebr e dyfisht\u00eb, vezore t\u00eb pazhvilluara;<br \/>\n&#8211; anomali t\u00eb form\u00ebs s\u00eb kafk\u00ebs (kafk\u00eb e zgjatur, fontanela t\u00eb gj\u00ebra);<br \/>\n&#8211; funksion i ul\u00ebt i gj\u00ebndr\u00ebs tiroide, mbiveshkore dhe i timusit.<br \/>\nDiagnostikimi:<br \/>\nP\u00ebr shkak se b\u00ebhet fjal\u00eb p\u00ebr kromozomopati, \u00ebsht\u00eb e r\u00ebnd\u00ebsishme t\u00eb zbulohet her\u00ebt. Diagnoza mund t\u00eb b\u00ebhet n\u00eb faz\u00ebn antenatale ose kur f\u00ebmija lind. Disa nga metodat m\u00eb t\u00eb sigurta q\u00eb aplikohen n\u00eb faz\u00ebn antenatale p\u00ebrfshijn\u00eb marrjen e mostrave nga qelizat e l\u00ebngut amniotik ose placent\u00ebs p\u00ebr t\u00eb analizuar kromozomet. Sidoqoft\u00eb, t\u00eb dy testet jan\u00eb invazive sepse ato kryhen duke futur nj\u00eb gjilp\u00ebr\u00eb p\u00ebrmes barkut n\u00eb mit\u00ebr.<br \/>\nM\u00eb i sigurt dhe m\u00eb i sakt\u00eb \u00ebsht\u00eb testi prenatal (marret gjak nga n\u00ebna p\u00ebr t\u00eb zbuluar aberacione kromozomike), i cili \u00ebsht\u00eb plot\u00ebsisht jo-invaziv dhe nuk bart asnj\u00eb rrezik p\u00ebr abort, infeksion ose komplikime tjera q\u00eb mund t\u00eb ndodhin me metodat invazive. Testi mund t\u00eb b\u00ebhet n\u00eb jav\u00ebn e 10-t\u00eb t\u00eb shtatz\u00ebnis\u00eb. Jan\u00eb zbuluar shum\u00eb teste p\u00ebr skrining prenatal me q\u00ebllim t\u00eb detektohen herr\u00ebt anomalit\u00eb n\u00eb numrin e kromozomeve. Testet q\u00eb m\u00eb shpesh p\u00ebrdoren jan\u00eb double dhe triple.<br \/>\n(radio jingle I njohim s\u00ebmundjet e rralla)<br \/>\nPasi q\u00eb lind f\u00ebmija, duke u bazuar n\u00eb ekzaminimin objektiv, mund t\u00eb vihet dyshimi p\u00ebr k\u00ebt\u00eb diagnoz\u00eb. M\u00eb pas, p\u00ebrcaktohet kariotipi (numri i kromozomeve) p\u00ebr ta konfirmuar diagnoz\u00ebn.<br \/>\nAnalizat laboratorike tek i posalindurit mund t\u00eb tregojn\u00eb num\u00ebr t\u00eb ul\u00ebt t\u00eb trombociteve (trombocitopeni), neutropeni (num\u00ebr i ul\u00ebt i neutrofileve), anemi dhe policitemi. Ekokardiografia dhe ekografia e trurit jan\u00eb shum\u00eb t\u00eb r\u00ebnd\u00ebsishme te fetusi dhe te neonati p\u00ebr zbulimin e hersh\u00ebm t\u00eb anomalive. Radiografit\u00eb me kontrast zbulojn\u00eb gjithashtu anomalit\u00eb n\u00eb traktin digjestiv. Radiografia e skeletit diagnostikon anomalit\u00eb e sistemit skeletor.<br \/>\nTrajtimi i sindrom\u00ebs Edwards:<br \/>\nNuk ka asnj\u00eb medikament specifik p\u00ebr trajtimin e sindrom\u00ebs Edwards. Nevojitet t\u00eb sigurohet nj\u00eb kujdes i duhur dhe t\u00eb trajtohen anomalit\u00eb e shoq\u00ebruara. K\u00ebrkohet monitorim i vazhduesh\u00ebm i zemr\u00ebs dhe stabilizim i f\u00ebmij\u00ebve me k\u00ebt\u00eb sindrom\u00eb, nd\u00ebrhyrja kirurgjikale konsiderohet p\u00ebr defekte m\u00eb t\u00eb r\u00ebnda t\u00eb zemr\u00ebs.<br \/>\nAnomalit\u00eb tjera, atresia e ezofagut dhe stenoza pilorike, gjithashtu k\u00ebrkojn\u00eb trajtim kirurgjikal. Deformimet skeletore, nga ana tjet\u00ebr, k\u00ebrkojn\u00eb trajtim ortopedik. Foshnjat e lindura me k\u00ebt\u00eb sindrom\u00eb shpesh vuajn\u00eb nga kapsll\u00ebku p\u00ebr shkak t\u00eb tonusit t\u00eb dob\u00ebt t\u00eb muskujve t\u00eb barkut, dhe ky problem persiston gjat\u00eb gjith\u00eb jet\u00ebs.<br \/>\nN\u00eb k\u00ebto raste, ushqyerja \u00ebsht\u00eb problemi m\u00eb i madh sepse foshnjat shpesh jan\u00eb t\u00eb shqet\u00ebsuara nga fryrja e stomakut. Kjo gjendje trajtohet me formula speciale t\u00eb qum\u00ebshtit q\u00eb zbusin jasht\u00ebqitjen e foshnj\u00ebs.<br \/>\n(radio jingle I njohim s\u00ebmundjet e rralla)<br \/>\nInfeksionet e traktit urinar dhe infeksionet e frym\u00ebmarrjes parandalohen me medikamente, p\u00ebr tretje normale t\u00eb ushqimit rregullisht jepen laksativ\u00eb dhe enzime t\u00eb pankreasit. Aktivitetet ditore t\u00eb f\u00ebmij\u00ebve jan\u00eb t\u00eb kufizuara p\u00ebr shkak t\u00eb vonimit mendor, zhvillimit t\u00eb ngadalt\u00eb motorik dhe deformimeve skeletore.<br \/>\nN\u00eb trajtimin dhe kujdesin e f\u00ebmij\u00ebve me sindrom\u00ebn Edwards jan\u00eb t\u00eb p\u00ebrfshir\u00eb gjenetist-dizmofolog, pediat\u00ebr, kardiolog, kirurg kardiak, okulist, ortoped dhe shum\u00eb specialist\u00eb t\u00eb tjer\u00eb.<\/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>Edwards syndrome &#8211; Sindroma Edwards ICD Q91.0 Q91.1 Q91.2 Q91.3 Prevalenca: 1-9\/1.000.000 Sindroma Edwards, e njohur gjithashtu si trisomia &#8211; [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":138552,"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\/08-Edvards-sindrom-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/08-Edvards-sindrom-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"5611","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: SINDROMA EDWARDS - \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-sindroma-edwards\/\" \/>\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: SINDROMA EDWARDS - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Edwards syndrome &#8211; Sindroma Edwards ICD Q91.0 Q91.1 Q91.2 Q91.3 Prevalenca: 1-9\/1.000.000 Sindroma Edwards, e njohur gjithashtu si trisomia &#8211; [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-sindroma-edwards\/\" \/>\n<meta property=\"og:site_name\" content=\"\u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"article:published_time\" content=\"2021-02-08T10:13:32+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/08-Edvards-sindrom.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1920\" \/>\n\t<meta property=\"og:image:height\" content=\"1080\" \/>\n<meta property=\"fb:app_id\" content=\"2407985809428537\" \/>\n<meta name=\"twitter:card\" content=\"summary\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebSite\",\"@id\":\"https:\/\/sdk.mk\/#website\",\"url\":\"https:\/\/sdk.mk\/\",\"name\":\"\\u0421\\u0430\\u043a\\u0430\\u043c \\u0414\\u0430 \\u041a\\u0430\\u0436\\u0430\\u043c\",\"description\":\"\\u0417\\u0430 \\u0441\\u043b\\u043e\\u0431\\u043e\\u0434\\u043e\\u0443\\u043c\\u043d\\u0438\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":\"https:\/\/sdk.mk\/?s={search_term_string}\",\"query-input\":\"required name=search_term_string\"}],\"inLanguage\":\"mk-MK\"},{\"@type\":\"ImageObject\",\"@id\":\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-sindroma-edwards\/#primaryimage\",\"inLanguage\":\"mk-MK\",\"url\":\"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/08-Edvards-sindrom.png\",\"width\":1920,\"height\":1080},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-sindroma-edwards\/#webpage\",\"url\":\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-sindroma-edwards\/\",\"name\":\"JU NJOFTOJM\\u00cb ME S\\u00cbMUNDJET E RRALLA: SINDROMA EDWARDS - \\u0421\\u0430\\u043a\\u0430\\u043c \\u0414\\u0430 \\u041a\\u0430\\u0436\\u0430\\u043c\",\"isPartOf\":{\"@id\":\"https:\/\/sdk.mk\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-sindroma-edwards\/#primaryimage\"},\"datePublished\":\"2021-02-08T10:13:32+00:00\",\"dateModified\":\"2021-02-08T10:13:32+00:00\",\"author\":{\"@id\":\"https:\/\/sdk.mk\/#\/schema\/person\/864d4cb4c82a45f771023b00a4aa5176\"},\"inLanguage\":\"mk-MK\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-sindroma-edwards\/\"]}]},{\"@type\":\"Person\",\"@id\":\"https:\/\/sdk.mk\/#\/schema\/person\/864d4cb4c82a45f771023b00a4aa5176\",\"name\":\"Biljana Nestoroska\"}]}<\/script>\n<!-- \/ Yoast SEO Premium plugin. -->","_links":{"self":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts\/138554"}],"collection":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/users\/24"}],"replies":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/comments?post=138554"}],"version-history":[{"count":0,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts\/138554\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/media\/138552"}],"wp:attachment":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/media?parent=138554"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/categories?post=138554"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/tags?post=138554"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}