{"id":2529,"date":"2012-02-17T22:08:19","date_gmt":"2012-02-17T22:08:19","guid":{"rendered":"http:\/\/216.185.159.195\/?page_id=2529"},"modified":"2020-10-20T09:35:10","modified_gmt":"2020-10-20T15:35:10","slug":"pse-eshte-i-rendesishem-kerkimi","status":"publish","type":"page","link":"https:\/\/www.globaldownsyndrome.org\/sq\/research-medical-care\/why-is-research-important\/","title":{"rendered":"Pse \u00ebsht\u00eb i r\u00ebnd\u00ebsish\u00ebm hulumtimi p\u00ebr njer\u00ebzit me sindrom\u00ebn Down?"},"content":{"rendered":"<div id=\"attachment_6295\" style=\"width: 287px\" class=\"wp-caption alignright\"><a href=\"\/wp-content\/uploads\/2012\/02\/YResearchWeb.jpg\"><img loading=\"lazy\" decoding=\"async\" aria-describedby=\"caption-attachment-6295\" class=\"size-large wp-image-6295\" title=\"Winders w Trampoline\" src=\"\/wp-content\/uploads\/2012\/02\/YResearchWeb-277x219.jpg\" alt=\"\" width=\"277\" height=\"219\" srcset=\"https:\/\/www.globaldownsyndrome.org\/wp-content\/uploads\/2012\/02\/YResearchWeb-277x219.jpg 277w, https:\/\/www.globaldownsyndrome.org\/wp-content\/uploads\/2012\/02\/YResearchWeb-448x354.jpg 448w, https:\/\/www.globaldownsyndrome.org\/wp-content\/uploads\/2012\/02\/YResearchWeb-282x223.jpg 282w, https:\/\/www.globaldownsyndrome.org\/wp-content\/uploads\/2012\/02\/YResearchWeb.jpg 896w\" sizes=\"auto, (max-width: 277px) 100vw, 277px\" \/><\/a><p id=\"caption-attachment-6295\" class=\"wp-caption-text\">Terapisti fizik Pat Winders punon me nj\u00eb klient t\u00eb ri n\u00eb Qendr\u00ebn Anna dhe John J. Sie p\u00ebr Sindrom\u00ebn Down<\/p><\/div>\n<p>Sindroma Down \u00ebsht\u00eb nj\u00eb sasi e njohur - \u00ebsht\u00eb kur nj\u00eb person lind me tre kopje t\u00eb kromozomit 21 n\u00eb vend t\u00eb dy t\u00eb zakonsh\u00ebm, t\u00eb quajtur trefishim. Prandaj, shkenc\u00ebtar\u00ebt mund t\u00eb zhvillojn\u00eb m\u00eb mir\u00eb metoda p\u00ebr t\u00eb kuptuar se si trefishimi \u00e7on n\u00eb nj\u00eb incidenc\u00eb m\u00eb t\u00eb lart\u00eb t\u00eb s\u00ebmundjeve t\u00eb caktuara dhe mbron t\u00eb nj\u00ebjt\u00ebt individ\u00eb nga s\u00ebmundje t\u00eb tjera. Kjo gjithashtu duhet t&#039;i lejoj\u00eb shkenc\u00ebtar\u00ebt t\u00eb zbulojn\u00eb mekanizmin q\u00eb \u00e7on n\u00eb vonesa njoh\u00ebse.<\/p>\n<p>Nj\u00eb hulumtim i till\u00eb \u00ebsht\u00eb i r\u00ebnd\u00ebsish\u00ebm p\u00ebr njer\u00ebzit me sindrom\u00ebn Down p\u00ebr shum\u00eb arsye t\u00eb ndryshme.<\/p>\n<p><strong>Hulumtoni se sa njer\u00ebz me sindrom\u00ebn Down kan\u00eb kushte ose s\u00ebmundje t\u00eb caktuara<\/strong>, ose cilat nd\u00ebrhyrje ose medikamente funksionojn\u00eb p\u00ebr njer\u00ebzit me sindrom\u00ebn Down do t\u00eb ndihmonin n\u00eb p\u00ebrdit\u00ebsimin e udh\u00ebzimeve mjek\u00ebsore si p.sh. <a href=\"http:\/\/pediatrics.aappublications.org\/content\/128\/2\/393.full.pdf\">Mbik\u00ebqyrja sh\u00ebndet\u00ebsore p\u00ebr f\u00ebmij\u00ebt me sindrom\u00ebn Down<\/a> dhe <a href=\"https:\/\/www.globaldownsyndrome.org\/global-adult-guidelines\/\">Udh\u00ebzimet GLOBAL t\u00eb kujdesit mjek\u00ebsor p\u00ebr t\u00eb rriturit me sindrom\u00ebn Down<\/a>. Kjo nga ana tjet\u00ebr do t\u00eb p\u00ebrmir\u00ebsonte m\u00ebnyr\u00ebn se si mjek\u00ebt, prind\u00ebrit\/kujdestar\u00ebt dhe n\u00eb disa raste vet\u00eb avokat\u00ebt e tyre trajtojn\u00eb nevojat e kujdesit sh\u00ebndet\u00ebsor t\u00eb njer\u00ebzve me sindrom\u00ebn Down.<\/p>\n<p><strong>Hulumtimet mjek\u00ebsore ose klinike mund t\u00eb p\u00ebrmir\u00ebsojn\u00eb sh\u00ebndetin dhe jet\u00ebgjat\u00ebsin\u00eb e njer\u00ebzve me sindrom\u00ebn Down.<\/strong> Individ\u00eb t\u00eb till\u00eb jan\u00eb t\u00eb predispozuar ndaj kushteve t\u00eb caktuara mjek\u00ebsore \u2013 vler\u00ebsohet se 50% do t\u00eb lindin me defekte t\u00eb lindura t\u00eb zemr\u00ebs, mbi 70% vler\u00ebsohet t\u00eb ken\u00eb apnea t\u00eb gjumit dhe deri n\u00eb 50% do t\u00eb ken\u00eb fillimin e hersh\u00ebm t\u00eb s\u00ebmundjes s\u00eb Alzheimerit. Duke hulumtuar efektet e trefishimit t\u00eb kromozomit 21 n\u00eb nj\u00eb baz\u00eb t\u00eb madhe popullsie t\u00eb sindrom\u00ebs Down, shkenc\u00ebtar\u00ebt mund t\u00eb ndihmojn\u00eb m\u00eb leht\u00eb n\u00eb identifikimin e shkaqeve t\u00eb kushteve t\u00eb tilla mjek\u00ebsore dhe t\u00eb ndihmojn\u00eb n\u00eb identifikimin e nd\u00ebrhyrjeve ose kurave. Kjo ka p\u00ebrfitimin e shtuar p\u00ebr t\u00eb ndihmuar dhjet\u00ebra miliona njer\u00ebz tipik\u00eb q\u00eb kan\u00eb t\u00eb nj\u00ebjtat kushte ose s\u00ebmundje. N\u00eb t\u00eb kund\u00ebrt, \u00ebsht\u00eb e rrall\u00eb q\u00eb nj\u00eb person me sindrom\u00ebn Down t\u00eb ket\u00eb nj\u00eb kancer t\u00eb ngurt\u00eb t\u00eb tumorit ose s\u00ebmundje kardiovaskulare, duke p\u00ebrfshir\u00eb atakun n\u00eb zem\u00ebr dhe goditjen n\u00eb tru. N\u00eb t\u00eb nj\u00ebjt\u00ebn m\u00ebnyr\u00eb, shkenc\u00ebtar\u00ebt mund t\u00eb studiojn\u00eb njer\u00ebzit me sindrom\u00ebn Down p\u00ebr t\u00eb kuptuar mekanizmin mbrojt\u00ebs q\u00eb ndodh si rezultat i trefishimit t\u00eb kromozomit 21.<\/p>\n<div id=\"attachment_6296\" style=\"width: 294px\" class=\"wp-caption alignright\"><a href=\"\/wp-content\/uploads\/2012\/02\/YResearchWeb2.jpg\"><img loading=\"lazy\" decoding=\"async\" aria-describedby=\"caption-attachment-6296\" class=\"size-large wp-image-6296\" title=\"YResearchWeb2\" src=\"\/wp-content\/uploads\/2012\/02\/YResearchWeb2-284x219.jpg\" alt=\"\" width=\"284\" height=\"219\" srcset=\"https:\/\/www.globaldownsyndrome.org\/wp-content\/uploads\/2012\/02\/YResearchWeb2-284x219.jpg 284w, https:\/\/www.globaldownsyndrome.org\/wp-content\/uploads\/2012\/02\/YResearchWeb2-459x354.jpg 459w, https:\/\/www.globaldownsyndrome.org\/wp-content\/uploads\/2012\/02\/YResearchWeb2-289x223.jpg 289w, https:\/\/www.globaldownsyndrome.org\/wp-content\/uploads\/2012\/02\/YResearchWeb2.jpg 504w\" sizes=\"auto, (max-width: 284px) 100vw, 284px\" \/><\/a><p id=\"caption-attachment-6296\" class=\"wp-caption-text\">Terapisti fizik Pat Winders punon me nj\u00eb klient t\u00eb ri n\u00eb Qendr\u00ebn Anna dhe John J. Sie p\u00ebr Sindrom\u00ebn Down<\/p><\/div>\n<p><strong>Hulumtimi baz\u00eb ose laboratorik shkon krah p\u00ebr krah me k\u00ebrkimin mjek\u00ebsor ose klinik.<\/strong> P\u00ebrpara se nj\u00eb shkenc\u00ebtar t\u00eb mund t\u00eb testoj\u00eb nj\u00eb trajtim nd\u00ebrhyrjeje te njer\u00ebzit, ai duhet t\u00eb testohet fillimisht n\u00eb laborator. P\u00ebr shembull: neuroshkenc\u00ebtar\u00ebt mund t\u00eb pyesin se si qelizat e trurit n\u00eb nj\u00eb person me sindrom\u00ebn Down jan\u00eb t\u00eb ndryshme nga qelizat e trurit n\u00eb nj\u00eb person tipik, dhe me trefishimin e kromozomit 21, gjenetist\u00ebt mund t\u00eb hetojn\u00eb se si disa proteina jan\u00eb t\u00eb mbi-shprehura ose n\u00ebn-shprehura.<\/p>\n<p><strong>Hulumtimi zhvillimor ose terapeutik \u00ebsht\u00eb gjithashtu shum\u00eb i r\u00ebnd\u00ebsish\u00ebm.<\/strong> P\u00ebr shembull, adoptimi i hersh\u00ebm i terapive t\u00eb p\u00ebrshtatshme fizike dhe t\u00eb t\u00eb folurit p\u00ebr foshnjat me sindrom\u00ebn Down mund t\u00eb b\u00ebj\u00eb nj\u00eb ndryshim t\u00eb madh n\u00eb zhvillimin fizik dhe intelektual t\u00eb f\u00ebmij\u00ebs. Nevojiten m\u00eb shum\u00eb k\u00ebrkime p\u00ebr t\u00eb kuptuar nd\u00ebrhyrjet p\u00ebr f\u00ebmij\u00ebt m\u00eb t\u00eb rritur dhe t\u00eb rriturit dhe p\u00ebr t\u00eb kuptuar se si individ\u00ebt me sindrom\u00ebn Down m\u00ebsojn\u00eb m\u00eb mir\u00eb t\u00eb lexojn\u00eb, t\u00eb b\u00ebjn\u00eb matematik\u00eb ose t\u00eb mbajn\u00eb nj\u00eb pun\u00eb.<\/p>\n<p><strong>Hulumtimi \u00ebsht\u00eb i r\u00ebnd\u00ebsish\u00ebm p\u00ebr njer\u00ebzit me sindrom\u00ebn Down, ve\u00e7an\u00ebrisht pasi sindroma Down \u00ebsht\u00eb gjendja gjenetike m\u00eb pak e financuar nga Instituti Komb\u00ebtar i Sh\u00ebndetit (NIH)<\/strong>. Financimi p\u00ebr k\u00ebrkimin e sindrom\u00ebs Down n\u00eb NIH filloi nj\u00eb <a href=\"?page_id=2169\" target=\"_blank\" rel=\"noopener noreferrer\">r\u00ebnie t\u00eb vazhdueshme dhe t\u00eb shpejt\u00eb n\u00eb vitin 2001<\/a>. Megjithat\u00eb, Instituti Komb\u00ebtar i Sh\u00ebndetit t\u00eb F\u00ebmij\u00ebris\u00eb dhe Zhvillimit Njer\u00ebzor i NIH-s\u00eb tani po punon shum\u00eb p\u00ebr t\u00eb korrigjuar pabarazin\u00eb e financimit q\u00eb p\u00ebrfitojn\u00eb njer\u00ebzit me sindrom\u00ebn Down dhe po merr drejtimin n\u00eb edukimin e instituteve t\u00eb tjera n\u00eb NIH.<\/p>\n<p>P\u00ebr t\u00eb m\u00ebsuar se si mund t\u00eb mb\u00ebshtesni financimin e k\u00ebrkimit p\u00ebr sindrom\u00ebn Down <a href=\"?page_id=22\" target=\"_blank\" rel=\"noopener noreferrer\">klikoni k\u00ebtu<\/a>.<\/p>\n<p>&nbsp;<\/p>","protected":false},"excerpt":{"rendered":"<p>Down syndrome is a known quantity \u2013 it is when a person is born with three copies of chromosome 21 instead of the usual two, called triplication. Therefore, scientists can better develop methods to understand how the triplication leads to a higher incidence of certain diseases and protects those same individuals from other diseases. This [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"parent":20,"menu_order":10,"comment_status":"open","ping_status":"open","template":"","meta":{"_acf_changed":false,"ngg_post_thumbnail":0,"footnotes":""},"class_list":["post-2529","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Why is Research for People with Down Syndrome Important? | Global Down Syndrome Foundation<\/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:\/\/www.globaldownsyndrome.org\/sq\/kerkimi-i-kujdesit-mjekesor\/pse-eshte-i-rendesishem-kerkimi\/\" \/>\n<meta property=\"og:locale\" content=\"sq_AL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Why is Research for People with Down Syndrome Important? | Global Down Syndrome Foundation\" \/>\n<meta property=\"og:description\" content=\"Down syndrome is a known quantity \u2013 it is when a person is born with three copies of chromosome 21 instead of the usual two, called triplication. 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Espinosa and Santoro covered the recent research activities advancing the understanding of the condition known as Down Syndrome Regression Disorder (DSRD). 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