Tusitala: Gregory Harris
Aso O Foafoaga: 16 Apelila 2021
Faafouga Aso: 14 Mae 2024
Anonim
Genetic testing in young patients including PTEN and DICER1 with Dr Nikiforov 211
Ata: Genetic testing in young patients including PTEN and DICER1 with Dr Nikiforov 211

Anotusi

O le a le suʻega ole gafa ole PTEN?

O le suʻega ole gafa o PTEN e suʻea se suiga, e taʻua o le fesuiaʻiga, i se gafa e taʻua o le PTEN. O kenera o vaega faʻavae ia o lona tupuʻaga na tuʻufaʻatasia mai lou tina ma lou tama.

O le PTEN gene fesoasoani e taofi le tuputupu ae o tumors. E lauiloa o le faʻaopopuina o le patu. O le geno suppressor gene e pei o taofi i luga o se taʻavale. E tuʻuina "taofi" i sela, ina ia latou le vave vavaeina. Afai e iai sau fesuiaʻiga o tupuaga o le PTEN, e mafai ona mafua ai le tupu aʻe o tuma e leʻo maua i le kanesa e taʻua ole hamartomas. Hamartomas mafai faʻaalia i le atoa tino. Ole fesuiaʻiga e mafai foi ona taitai atu ai i le atinaʻeina o kanesa kanesa.

O le PTEN genetation mutation e mafai ona maua mai i ou matua, pe maua mulimuli ane i le olaga mai le siʻosiʻomaga pe mai se mea sese e tupu i lou tino i le taimi o vaevaega vaevaega.

O le suia PTEN suiga e mafai ona mafua ai le tele o ituaiga soifua maloloina. O ni isi o mea e mafai ona amata mai lava i lou pepe poʻo le laiti foi. O isi e aliali mai a o matutua. O nei faʻaletonu e masani ona faʻatasitasi ma taʻua o le PTEN hamartoma syndrome (PTHS) ma aofia ai:


  • Cowden syndrome, o se faʻamaʻi e mafua ai le tuputupu ae o le tele o hamartomas ma faʻateleina le ono aʻafia o le tele o ituaiga o kanesa, e aofia ai kanesa o le fatafata, uterus, thyroid, ma le kolone. O tagata e maua i le maʻi o Cowden e masani ona tele atu lo latou ulu (macrocephaly), tolopo atinaʻe, ma / pe faʻasolosolo ile mafaufau.
  • Bannayan-Riley-Ruvalcaba syndrome mafua ai foi hamartomas ma macrocephaly. Ma se faʻaopopoga, o tagata e maua i lenei faʻamaʻi atonu e i ai ni manaʻoga faʻapitoa ma / pe o le autism. O aliʻi e maua i le faʻamaʻi e masani ona i ai ni papalagi pogisa i le pene.
  • Proteus poʻo le Proteus-pei faʻamaʻi mafai ai ona tupu tele o ponaivi, paʻu, ma isi aano o le tino, faʻapea foi ma hamartomas ma macrocephaly.

Mauaina (e taʻua foi o le somatic) PTEN genetation mutations o se tasi o masani ona maua fesuiaiga i le kanesa o le tagata. O nei suiga ua maua i le tele o ituaiga o kanesa, e aofia ai le kanesa o le prostate, o le uterine cancer, ma nisi ituaiga o faiʻai o le faiʻai.


Isi igoa: PTEN gafa, atoʻaga atoa auiliiliga; Faʻasologa ole PTEN ma le soloia / faʻaluaina

O le a le mea e faʻaaoga ai?

O le suʻega e faʻaaoga e vaʻai ai mo le PTEN genetation mutation. E le o se tofotofoga masani. E masani lava ona tuʻuina atu i tagata faʻavae i talaʻaga o aiga, faʻailoga, poʻo taimi muamua o faʻamaʻi o le kanesa, faʻapitoa lava le kanesa o le susu, tiroida, poʻo le tō.

Aisea ou te manaʻomia ai se PTEN genetic test?

Oe poʻo lau tama ono manaʻomia se suʻesuʻega ole gafa o le PTEN pe a fai o iai sau talaʻaga aiga o se PTEN genetation mutation ma / pe tasi pe sili atu o faʻatonuga nei poʻo faʻailoga.

  • Tele hamartomas, aemaise i le gastrointestinal eria
  • Macrocephaly (lapoʻa nai lo masani lapoʻa ulu)
  • Tolo atinae
  • Autism
  • Pogisa freckling o le pene i tama
  • Kanesa o le susu
  • Kanesa o lou toto
  • Kanesa o le faiʻai i fafine

Afai na faʻamaonia oe i le kanesa ma e leai sau talaʻaga o le aiga o lenei faʻamaʻi, e ono poloaʻia e lau tausi soifua maloloina lenei suʻega e iloa ai pe o le PTEN genetation mutation e mafua ai lou kanesa. O le iloa pe o iai sau fesuiaʻiga e mafai ona fesoasoani i lau kamupani o loʻo faʻavasega pe faʻafefea ona tupu lou faʻamaʻi ma taʻitaʻia ou togafitiga.


Ole a le mea e tupu ile taimi ole suʻega ole gafa ole PTEN?

O le suʻega ole PTEN e masani lava ole suʻega ile toto. I le taimi o le suʻega toto, o le tagata faigaluega soifua maloloina o le a ave se toto faʻataʻitaʻiga mai se uaua i lou lima, faʻaaoga ai se tamaʻi nila. A maeʻa ona tuʻu i totonu le nila, o le a faʻaputuputuina se vaega laʻititi o le toto i totonu o se faʻamaoniga poʻo se ipu. Atonu e te lagonaina sina tiga pe a alu le nila i totonu pe fafo. Lenei masani ona alu ifo i lalo o le lima minute.

Mata e tatau ona ou faia se mea e sauniuni ai mo le suʻega?

E masani ona e le manaʻomia ni sauniuniga faʻapitoa mo se suʻega o le PTEN.

E i ai ni lamatiaga i le suʻega?

E laʻititi lava le aʻafia ile faia ole suʻega ile toto. E i ai sina tiga poʻo se tiga i le mea na tuu ai le nila, ae o le tele o faʻailoga e vave ona alu ese.

O le a le uiga o faʻaiuga?

Afai o faʻaiuga ua faʻaalia ai o loʻo ia te oe le PTEN fesuiaiga o gafa, e le o lona uiga ua maua oe ile kanesa, ae o lou aʻafiaga e maualuga atu nai lo le toʻatele o tagata. Ae o le tele o taimi e siaki ai le kanesa e mafai ona faʻaititia ai lou tulaga lamatia. Kanesa e sili atu ona togafitia pe a maua i le amataga o laʻasaga. Afai o iai sau fesuiaʻiga, e ono fautuaina e lau tausi soifua maloloina se tasi poʻo le sili atu foi o suʻesuʻega o loʻo mulimuli mai:

  • Kolonipisi, amata ile tausaga 35-40
  • Mammogram, amata ile tausaga 30 mo fafine
  • Suʻesuʻega o le tagata ia oe lava i masina uma
  • Taʻitasi uterine siakiina mo fafine
  • Suʻesuʻega o le tui taʻi tausaga
  • Tausaga siaki o paʻu mo tuputupu aʻe
  • Taʻitasi tausaga siaki fatugaʻo

O tausaga taʻitasi o le thyroid ma le paʻu e faʻataʻitaʻia foi mo tamaiti e iai le fesuiaʻiga o gafa ole PTEN.

Aʻoaʻo atili e uiga i suʻesuʻega falesuesue, vaitau o faʻasino, ma malamalamaaga i iʻuga

E i ai seisi mea e tatau ona ou iloa e uiga i le PTEN faʻamaoniga kenera?

Afai na faʻamaonia oe ile PTEN genetation mutation pe o loʻo e mafaufau e faʻataʻitaʻia, e ono fesoasoani le talanoa i se faufautua o gafa. O se faufautua kenera o se faʻapitoa aʻoaʻoina faʻapitoa i genetics ma faʻasologa genetic. Afai e leʻi faʻataʻitaʻia oe, e mafai ona fesoasoani le fesoasoani ia te oe ia malamalama i mea lamatia ma penefiti o le suʻega. Afai na faʻataʻitaʻia oe, e mafai ona fesoasoani le fesoasoani ia te oe ia malamalama i iʻuga ma faʻasino oe i tautua lagolago ma isi mea taua.

Faʻamatalaga

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O faʻamatalaga i luga o lenei 'upega tafaʻilagi e le tatau ona faʻaaogaina e fai ma sui o fomaʻi faʻapitoa togafitiga poʻo fautuaga. Faʻafesoʻotaʻi le au tausi soifua pe a iai ni au fesili e uiga i lou soifua maloloina.

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