{"id":9675,"date":"2018-11-30T16:20:00","date_gmt":"2018-11-30T15:20:00","guid":{"rendered":"https:\/\/futurehealthbiobank.com\/al\/?p=9675"},"modified":"2018-11-30T16:20:00","modified_gmt":"2018-11-30T15:20:00","slug":"testi-prenatal-heqja-e-vellos-se-misterit-lidhur-me-sindromen-e-mikrodelecionit-22q","status":"publish","type":"post","link":"https:\/\/futurehealthbiobank.com\/al\/blog\/testi-prenatal-heqja-e-vellos-se-misterit-lidhur-me-sindromen-e-mikrodelecionit-22q\/","title":{"rendered":"Testi Prenatal: “heqja” e vellos s\u00eb misterit lidhur me sindrom\u00ebn e mikrodelecionit 22q"},"content":{"rendered":"

Nj\u00eb artikull i koh\u00ebve t\u00eb fundit i BBC ka hedhur drit\u00eb mbi nj\u00eb \u201cdiagnostikim t\u00eb gabuar masivisht\u201d mbi sindrom\u00ebn e mikrodelecionit 22q. Ky problem gjenetik mundet t\u00eb shkaktoj\u00eb nj\u00eb gam\u00eb t\u00eb gjer\u00eb simptomash nga m\u00eb t\u00eb lehta deri tek ato m\u00eb seriozet t\u00eb lidhura me sjelljen, simptoma psikologjike dhe ato fizike, por shpesh ai “fluturon ul\u00ebt n\u00ebn radar” duke mos u diagnostikuar dot tek bebet dhe f\u00ebmij\u00ebt.<\/h3>\n

<\/p>\n

Duke qen\u00eb se mikrodelecioni 22q \u00ebsht\u00eb nj\u00eb problem sh\u00ebndet\u00ebsor gjenetik pak i njohur, shum\u00eb prind\u00ebr e madje edhe mjek\u00eb nuk arrijn\u00eb ta kuptojn\u00eb se nj\u00eb f\u00ebmij\u00eb e ka problemin deri diku pas lindjes. Kjo do t\u00eb thot\u00eb se familjet e f\u00ebmij\u00ebve t\u00eb prekur nga mikrodelecioni 22q nuk jan\u00eb duke marr\u00eb ndihm\u00ebn mjek\u00ebsore dhe mb\u00ebshtetjen p\u00ebr t\u00eb cil\u00ebn kan\u00eb nevoj\u00eb.<\/p>\n

Nj\u00eb studim i koh\u00ebve t\u00eb fundit nga Universiteti i Cardiff<\/strong><\/a> ka zbuluar se ky problem gjenetik prek \u00e7do vit t\u00eb pakt\u00ebn nj\u00eb n\u00eb 2,000 bebe vet\u00ebm n\u00eb Mbret\u00ebrin\u00eb e Bashkuar. Si nj\u00eb sindrom\u00eb e lidhur me mikrodelecionet, ajo p\u00ebrfshin munges\u00ebn e nj\u00eb seksioni t\u00eb ADN kromozomale duke shkaktuar nj\u00eb gam\u00eb komplekse t\u00eb 180 simptomave t\u00eb mundshme, si\u00e7 jan\u00eb defekte t\u00eb lindura t\u00eb zemr\u00ebs, cleft palate dhe zhvillim t\u00eb p\u00ebrgjithsh\u00ebm t\u00eb vonuar. Me kaq shum\u00eb simptoma t\u00eb mikrodelecionit 22q, nuk \u00ebsht\u00eb aspak \u00e7udi q\u00eb ky problem gjenetik mund t\u00eb keqkuptohet prej prind\u00ebrve dhe profesionist\u00ebve t\u00eb kujdesit sh\u00ebndet\u00ebsor.<\/p>\n

E p\u00ebrfshir\u00eb n\u00eb studimin zhvillimor t\u00eb Universitetit t\u00eb Cardiff i cili \u00ebsht\u00eb duke u kryer \u00ebsht\u00eb edhe tre vje\u00e7arja Eloise Lee. Ajo u diagnostikua me sindrom\u00ebn e mikrodelecionit 22q kur ishte 11 muajshe. Q\u00eb prej lindjes n\u00ebna e saj kishte v\u00ebn\u00eb re se Eloise ishte tep\u00ebr e ngadalt\u00eb p\u00ebr t\u00eb arritur etapat e zhvillimit f\u00ebmij\u00ebror, nuk hante ushqim si\u00e7 duhet, dhe ishte nj\u00eb bebe shum\u00eb e urt\u00eb.
\nProfesor Marianne van den Bree, udh\u00ebheq\u00ebse e k\u00ebrkimit shkencor n\u00eb vler\u00ebsimin e b\u00ebr\u00eb nga Universiteti i Cardiff, ka monitoruar p\u00ebrparimin e Eloise p\u00ebrmes loj\u00ebs. Ajo komentoi:<\/p>\n

Disa prind\u00ebr t\u00eb cil\u00ebt mor\u00ebn pjes\u00eb n\u00eb studim na treguan se shkollat nuk e kuptojn\u00eb se f\u00ebmij\u00ebt kan\u00eb nj\u00eb problem gjenetik dhe ata mendojn\u00eb se f\u00ebmija \u00ebsht\u00eb thjesht i pabindur. T\u00eb tjer\u00eb prind\u00ebr na than\u00eb se kur f\u00ebmija i tyre sillej n\u00eb nj\u00eb m\u00ebnyr\u00eb t\u00eb caktuar, nganj\u00ebher\u00eb prind\u00ebrit u faj\u00ebsuan nga shkolla se nuk ishin treguar prind\u00ebr t\u00eb mir\u00eb.<\/p>\n

P\u00ebrve\u00e7se faktit se mikrodelecioni 22q tashm\u00eb konsiderohet si nj\u00eb prej problemeve gjenetike t\u00eb hasura m\u00eb zakonisht, ka ende mjaft p\u00ebr t\u00eb m\u00ebsuar rreth asaj se \u00e7far\u00eb dometh\u00ebn\u00eb kjo p\u00ebr t\u00eb prekurit prej saj. K\u00ebrkimi yn\u00eb shkencor \u00ebsht\u00eb duke zgjeruar dijet mbi aspektet e sh\u00ebndetit mendor t\u00eb cil\u00ebt shoq\u00ebrojn\u00eb k\u00ebt\u00eb sindrom\u00eb p\u00ebr t\u00eb ndihmuar n\u00eb identifikimin se si f\u00ebmij\u00ebt dhe t\u00eb rriturit mund t\u00eb mb\u00ebshteten n\u00eb m\u00ebnyr\u00ebn m\u00eb t\u00eb mir\u00eb t\u00eb mundshme gjat\u00eb jet\u00ebs s\u00eb tyre. \u00cbsht\u00eb e qart\u00eb prej studimit ton\u00eb t\u00eb deritash\u00ebm se ka ende nj\u00eb munges\u00eb nd\u00ebrgjegj\u00ebsimi n\u00eb mes t\u00eb komunitetit mjek\u00ebsor si edhe t\u00eb publikut n\u00eb p\u00ebrgjith\u00ebsi. Puna jon\u00eb \u00ebsht\u00eb pjes\u00eb e nj\u00eb mekanizmi p\u00ebr ta ndryshuar k\u00ebt\u00eb.<\/p><\/blockquote>\n

N\u00eb disa raste, mungesa e nj\u00eb diagnostikimi t\u00eb p\u00ebrshtatsh\u00ebm ka \u00e7uar n\u00eb pasoja fatale. Maksi, djali i Julie Wootton, vdiq nga komplikacionet e ndodhura nga sindroma e mikrodelecionit 22q. Q\u00eb prej asaj kohe ajo ngriti fondacionin e bamir\u00ebsis\u00eb Max Appeal Charity<\/strong><\/a> p\u00ebr t\u00eb rritur nd\u00ebrgjegj\u00ebsimin dhe p\u00ebr t\u00eb mbledhur fonde p\u00ebr k\u00ebrkimin shkencor rreth k\u00ebtij problemi gjenetik.<\/p>\n

Nj\u00eb sugjerim nga Julie \u00ebsht\u00eb q\u00eb t\u00eb p\u00ebrfshihet mikrodelecioni 22q si pjes\u00eb e testeve standarde t\u00eb depistimit p\u00ebr t\u00eb porsalindurit, t\u00eb cil\u00ebt depistojn\u00eb pas lindjes p\u00ebr nj\u00eb num\u00ebr t\u00eb caktuar problemesh q\u00eb ndikojn\u00eb jet\u00ebn. Megjith\u00ebse komiteti komb\u00ebtar i depistimit n\u00eb Mbret\u00ebrin\u00eb e Bashkuar \u00ebsht\u00eb ende duke e marr\u00eb n\u00eb shqyrtim k\u00ebt\u00eb, n\u00eb fakt \u00ebsht\u00eb tashm\u00eb e mundur p\u00ebr ta kryer depistimin e ADN s\u00eb bebes suaj p\u00ebr mikrodelecionin 22q q\u00eb p\u00ebrpara lindjes me an\u00eb t\u00eb Vision – Testit prenatal<\/strong><\/a> joinvaziv nga Future Health Biobank.<\/p>\n

N\u00ebse d\u00ebshironi m\u00eb tep\u00ebr informacion rreth asaj se si testi yn\u00eb prenatal joinvaziv Vision kryen depistimin p\u00ebr sindrom\u00ebn e mikrodelecionit 22q, na kontaktoni n\u00eb: +355 4451 9080 or na shkruani n\u00eb: Info_ALB@fhbb.com.<\/p>\n

Referenca: www.bbc.co.uk\/<\/strong><\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Nj\u00eb artikull i koh\u00ebve t\u00eb fundit i BBC ka hedhur drit\u00eb mbi nj\u00eb \u201cdiagnostikim t\u00eb gabuar masivisht\u201d mbi sindrom\u00ebn e mikrodelecionit 22q. Ky problem gjenetik mundet t\u00eb shkaktoj\u00eb nj\u00eb gam\u00eb t\u00eb gjer\u00eb simptomash nga m\u00eb t\u00eb lehta deri tek ato m\u00eb seriozet t\u00eb lidhura me sjelljen, simptoma psikologjike dhe ato fizike, por shpesh ai “fluturon […]<\/p>\n","protected":false},"author":25,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[218],"tags":[],"class_list":["post-9675","post","type-post","status-publish","format-standard","hentry","category-te-reja-nga-ne"],"acf":[],"yoast_head":"\nTesti Prenatal: "heqja" e vellos s\u00eb misterit lidhur me sindrom\u00ebn e mikrodelecionit 22q | Future Health Biobank<\/title>\n<meta name=\"description\" content=\"Nj\u00eb artikull i koh\u00ebve t\u00eb fundit i BBC ka hedhur drit\u00eb mbi nj\u00eb \u201cdiagnostikim t\u00eb gabuar masivisht\u201d mbi sindrom\u00ebn e mikrodelecionit 22q. Ky problem gjenetik mundet t\u00eb shkaktoj\u00eb nj\u00eb gam\u00eb t\u00eb gjer\u00eb simptomash nga m\u00eb t\u00eb lehta deri tek ato m\u00eb seriozet t\u00eb lidhura me sjelljen, simptoma psikologjike dhe ato fizike, por shpesh ai "fluturon ul\u00ebt n\u00ebn radar" duke mos u diagnostikuar dot tek bebet dhe f\u00ebmij\u00ebt.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/futurehealthbiobank.com\/al\/blog\/testi-prenatal-heqja-e-vellos-se-misterit-lidhur-me-sindromen-e-mikrodelecionit-22q\/\" \/>\n<meta property=\"og:locale\" content=\"sq_AL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Testi Prenatal: "heqja" e vellos s\u00eb misterit lidhur me sindrom\u00ebn e mikrodelecionit 22q\" \/>\n<meta property=\"og:description\" content=\"Nj\u00eb artikull i koh\u00ebve t\u00eb fundit i BBC ka hedhur drit\u00eb mbi nj\u00eb \u201cdiagnostikim t\u00eb gabuar masivisht\u201d mbi sindrom\u00ebn e mikrodelecionit 22q. 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