ʻO Olivia Farnsworth, he kaikamahine liʻiliʻi i hoʻohūhū i nā lāʻau lapaʻau i ko lākou ʻike ʻana he maʻi chromosome ʻē aʻe i haʻalele i ka manaʻo o ka pōloli, luhi a ʻeha paha mai kona ola mau loa. He maʻi maʻi "ʻoi aʻe ma mua o ka loaʻa ʻole".
ʻO ke kaikamahine 'bionic' ʻo Olivia Farnsworth
Ua manaʻo ʻia ʻo ke kaikamahine UK ʻo Olivia wale nō ke kanaka i ka honua e hōʻike pū i nā hōʻailona ʻekolu. Kupanaha a kupanaha ia i ka manawa like.
ʻO ka maʻi ʻē aʻe hiki iā ia ke hele i ʻelima a ʻeono lā me ka hiamoe ʻole a me ka hānai ʻana. Pono kona ola ʻano ʻano ʻē hoʻopuni ʻia e kahi ʻepekema-pohihihi i wehewehe ʻole ʻia. ʻO ka ʻōlelo ʻana, loaʻa iā Olivia nā mana super-kanaka ʻē aʻe e huki ai i nā miliona o ka poʻe e ʻike i kāna moʻolelo engrossing.
ʻOiai ua wehewehe ʻia ke ʻano kakaikahi o Olivia liʻiliʻi he "chromosome 6 deletion", ka huikau o nā hiki super-kanaka i kahi ala i hōʻike ʻole ʻia ma mua. Ua kapa aku kekahi o nā kauka iā ia ke "kaikamahine bionic" i hana ʻia i ke kila a ʻaʻohe ona ʻano makaʻu.
Pehea i hoʻomaka ai nā hōʻailona o kēia ʻano olakino olakino e hōʻike nei i ko Olivia ola
I ka makahiki 2016, he 7 makahiki wale nō ʻo Olivia, ua hele ʻo ia me kona makuahine a holo ʻo ia. I ka hopena, ua kuʻi ʻia ʻo ia e ke kaʻa a huki ʻia ma kahi o 100 kapuaʻi ma ke alanui. Ma hope o kēlā pōʻino weliweli, ala aʻela ʻo ia a hoʻomaka e hoʻi i kona makuahine. Ua like wale ʻo ia, "He aha ka hana?"
Ma muli o ka hopena, ua ʻeha ʻo ia. He māka ko kona ma kona umauma. Akā ʻo kāna mau ʻeha wale nō, ʻaʻohe ona ʻili ma ka manamana wāwae a me ka pūhaka.
Eia kekahi, hāʻule maikaʻi ʻo ia a haehae i kona lehelehe a ʻaʻole i haʻi aku i kekahi mea i kona mau mākua. Ma hope, pono iā ia e hana i kahi ʻoki plastik nui e hoʻoponopono iā ia.
He aha ka maʻi chromosome?
ʻO ka chromosomal abnormality a i ʻole ka maʻi chromosome he mea nalo, ʻokoʻa, a i ʻole ʻāpana like ʻole o ka DNA chromosomal. Loaʻa ka poʻe me nā maʻi chromosome i nā maʻi like ʻole a me ke kino kīnā - hoʻokahi maʻi maʻamau ʻo Down's Syndrome kahi maʻi genetic chromosome 21 e hoʻolōʻihi i ka ulu a me ka naʻauao. Akā ʻo ka hihia o ka Bionic Girl Olivia he mea ʻē loa a ʻoi aku ka hoihoi i mea e kahaha loa ai kekahi.
ʻO ka maʻi holoi chromosomal: he aha ia? A pehea e pili ai i ke kanaka?
Aia i loko o ka nucleus o kā mākou kino pākahi nā kino microscopic i kapa ʻia he chromosome i kuleana no ka hana a me ka hana hou ʻana o kēlā me kēia cell i ko mākou kino, e hoʻoikaika ana iā mākou e ola. Hana ʻia nā Chromosome i ʻelua mau molekiola nui a i ʻole nā kaula o ka deoxyribonucleic acid (DNA), ʻoiaʻiʻo, ua kapa ʻia kēia mau kaula nā genes, hāʻawi i nā ʻōkuhi e kaohi i ka hana a ka cell a me ka hana hou. E ʻōlelo, kaohi nā gen i nā mea āpau e ola ai mākou.
Loaʻa i nā pūnaewele kanaka he 23 mau pālua chromosome (hoʻokahi pā o nā "chromosome moekolohe" e hōʻike ana i ke kāne a i ʻole ka wahine a me 22 mau pālua o "autosome" i loaʻa ke koena o ka ʻike hoʻoilina hoʻoilina), e hāʻawi ana he 46 i kēlā me kēia cell. No laila, loaʻa iā mākou he 23 mau ʻano chromosome a ʻelua kope o kā mākou o kēlā me kēia chromosome.
Loaʻa nā syndrome holoi Chromosomal mai ka hapa a i ʻole holoi ʻia ʻana o hoʻokahi a pālua chromosome-pālua paha. Eia nō naʻe, hōʻike pinepine nā syndrome holoi chromosomal i nā kāpae nui ʻana a i ʻole kahi holoi pālua holoʻokoʻa i ʻike ʻia e hoʻohana ana karyotyping nā loea. ʻOiai, ua manaʻo ʻia kekahi mau nalowale o ka hana kūʻē kikoʻī e lilo i ʻāpana o ka holoi ʻana ʻo Chromosome, ʻoiai he ʻano ʻoi loa o ka holoi ʻana a i ʻole kapa ʻia 'Chromosomal Microdeletion-Syndrome'.
Aia he mau haneli o nā maʻi a me nā kino kīnā e hoʻopili ʻia i kahi pālua o ka hoʻopau chromosome a i ʻole ka nalo ʻana o nā genes-function. ʻO kekahi mau laʻana o kēlā mau syndrome i ʻōlelo ʻia ma lalo nei:
- 5-Holoi ʻia ʻo Chromosome ʻO ia ke kumu o ka maʻi cri du chat, ka maʻi ʻo Parkinson, a pēlā aku.
- 4-Holoi ʻia ʻo Chromosome ʻo ia ke kumu o Wolf-Hirschhorn Syndrome, maʻi ʻaʻai ʻo Bladder, Leukemia lymphocytic mau, a pēlā aku.
- Prader – Willi maʻi - ʻoiaʻiʻo, loaʻa kēia maʻi maʻi ma muli o ka nalowale o nā hana kikoʻī, ma kahi o ka holoi ʻana i ka chromosome. I loko o nā keiki hānau hou, ʻo nā hōʻailona e like me nā ʻiʻo nāwaliwali, ka hānai maikaʻi ʻole, a me ka ulu lohi.
- ʻO Angelman Syndrome (AS) – he maʻi maʻi ia e hoʻopilikia nui i ka ʻōnaehana nerve. ʻO nā hōʻailona he poʻo liʻiliʻi a me kahi hiʻohiʻona o ka helehelena, ke kīnā ʻole o ka naʻau, ke kīnā o ka ulu ʻana, nā pilikia ʻōlelo, nā pilikia kaulike a me ka neʻe ʻana, ka hopu ʻana, a me nā pilikia hiamoe. Loaʻa ia ma muli o ka nalowale o ka hana o kekahi mau genes kikoʻī.
Holoi ʻo Chromosome 6 iā Olivia Farnsworth
I ka hihia o Olivia Farnsworth, ʻO Chromosome 6 ua kāpae loa ʻia i ʻoi aku ma mua o 170 miliona mau paʻa paʻa (ka mea kūkulu o DNA) a hōʻike ma waena o 5.5 a me 6% o ka huina DNA i nā hunaola. Aia i loko ka Mea Kūlana Nui Histocompatibility, i loaʻa ma kahi o 100 mau ʻāpana e pili ana i ka pane pale ʻole, kekahi mau pane kino ʻē aʻe a me kā lākou mau hana paʻakikī. ʻAʻole hōʻike ʻia kēia ʻano o ka hoʻopau chromosomal ma mua, a ke ʻike nei nā mea noiʻi pehea a no ke aha ʻo ia i ulu ai i kahi ʻano ʻano ʻē a ʻano ʻē.
Eia nō naʻe, he nui nā chromosome 6 aberrations hiki ke hiki, me kēlā me kēia me nā hōʻailona like ʻole, a he kakaikahi loa lākou a pau. Loaʻa ka ʻike hou aʻe a me ka hiki ke kau inoa a komo i ka "Chromosome 6 Research Project" ma Chromosome6.org.
ʻO Olivia Farnsworth wā e hiki mai ana
Noho ʻo Olivia i kēia manawa ma Huddersfield City, UK. Mālama kona makuahine ʻo Nikki Trepak iā ia i ka wā hiki. ʻOiai ʻaole makemake ʻo Olivia i ka pōloli, pono ʻo ia e ʻai. ʻAʻole ʻo ia e ʻeha, akā hiki i kona kino ke ʻeha, ʻaʻole ia e ʻike. Mahalo, he ʻohana kākoʻo ʻo ia nāna e mālama mau i kā lākou Olivia liʻiliʻi.
Mālama ka makuahine o Olivia i kēlā me kēia manawa ʻaʻole e heʻe ʻo Olivia i nā meaʻai a hoʻopau i nā calori e pono ai ke olakino iā ia iho. Akā ʻo ka mea kaumaha ka hāʻawi ʻia ʻana o Olivia liʻiliʻi i nā lāʻau moe i kēlā me kēia pō i hiki ai iā ia ke hoʻomaha. Hoʻohui ʻia, lawe lākou i nā loiloi olakino i kēlā me kēia pule e nānā inā ʻaʻohe ona ʻeha kūloko a i ʻole nā maʻi.
Ma hope o ka ʻōlelo aʻo a nā kauka, hoʻomau nā mākua o Olivia e hānai iā ia e like me nā keiki ʻē aʻe. Hoʻouna lākou iā ia i ke kula. ʻOiai, i waena o nā pilikia āpau, ʻike ʻia ʻo ia ma ke ʻano he haumāna briliant i ke kula. Maikaʻi ʻo ia i nā haʻuki a me nā pāʻani. Eia naʻe, ʻo ka pilikia wale nō e huhū nui ʻo Olivia ke ʻoki a hoʻohaʻahaʻa paha kekahi iā ia. A laila hoʻāʻo ʻo ia e hana ʻino iā lākou me kekahi mea a i ʻole pā i kona poʻo ponoʻī i ka paia me ka ikaika.
Ua wae aku ko Olivia mau mākua i ka manawa me kekahi mau psychologists a me psychiatrist no kēia pilikia, akā ʻaʻole hiki iā lākou ke hana i kekahi mea e pili ana i ia. Wahi a lākou, he mau hōʻailona kēia o nā pilikia kūkulu o Olivia's chromosome.
He kino maoli ko Olivia kino kupaianaha i nā kānaka mai ka hoʻomaka. Akā hiki i kekahi ke manaʻo pololei i ka lilo ʻana o Olivia a me kona ʻohana i nā lā i kahi kūlana kaumaha.
Eia kekahi, ʻaʻole ʻike nā kauka i ka hana ʻana me ka hihia ʻano ʻē o Olivia Farnsworth, a i ʻole inā hiki ke mālama ʻia ʻoiai ʻo ia ka hihia i hoʻopaʻa mua ʻia i ka mōʻaukala.
No kēlā kumu, ua hoʻoholo kona makuahine ʻo Nikki Trepak a me ka ʻohana e loaʻa kahi ʻaoʻao lehulehu e kōkua iā lākou e hoʻomau i ke kākoʻo kālā. Ua kākoʻo ʻia ʻo ia e ka hui kākoʻo maʻi chromosome kūikawā.
Ma hope o ka heluhelu ʻana e pili ana iā Olivia Farnsworth, heluhelu e pili ana ʻO Amina Ependieva - he kaikamahine Chechen i mahalo nui ʻia no kona nani ʻokoʻa. alaila heluhelu e pili ana Natasha Demkina: ʻO ka wahine me nā maka X-ray!
