ʻOiai ua ʻoi iki aʻe kāu keiki, ʻaʻole anei ʻo ia e hōʻike i nā hōʻailona o ka wā ʻōpiopio e like me kāna mau hoaaloha? A i ʻole ua ʻike ʻoe ʻaʻole ʻo ia e honi maoli i kekahi mau ʻala, no ka laʻana, ke ʻala o nā pua a i ʻole ka meaʻai? Hiki i nā mea e like me kēia ke hoʻoulu i ka hopohopo a me ka hopohopo i loko o ko mākou manaʻo ma ke ʻano he mau mākua. No laila, i kēia lā e kamaʻilio mākou e pili ana i kahi maʻi e hōʻike ana i kēia mau hōʻailona, akā ʻaʻole i kamaʻilio nui ʻia i loko o ke kaiāulu, akā he mea nui loa ia e makaʻala. ʻO ia kahi maʻi i kapa ʻia ʻo Kallmann Syndrome .
He aha kēia Kallmann Syndrome?
I ka ʻōlelo maʻalahi, he maʻi genetic kakaʻikahi ʻo Kallmann Syndrome. ʻO ka mea nui e hana ʻia ma kēia, ʻo ia ka lohi nui ʻana o ka wā ʻōpiopio o ke keiki . I kekahi mau hihia, hiki ke oki loa ka wā ʻōpiopio. Eia kekahi, he nui ka poʻe me kēia maʻi i loaʻa i ka nalowale loa o ke ʻala . Kāhea pū mākou i kēia "anosmia" ma nā ʻōlelo lapaʻau.
ʻO ke kumu o kēia kūlana, ʻoiai ke keiki i loko o ka ʻōpū o ka makuahine, loaʻa kekahi mau loli i kekahi mau genes e pili ana i ka ulu ʻana o kona kino. E noʻonoʻo e like me kahi hewa liʻiliʻi i loko o kahi polokalamu kamepiula. I kekahi manawa hiki ke hoʻoili ʻia kēia mau loli genetic mai nā mākua a i nā keiki. ʻO ia hoʻi, loaʻa i ke keiki kēia ʻano genetic mai ka makuahine a i ʻole ka makuakāne. Eia nō naʻe, i kekahi mau hihia, ʻōlelo nā kauka hiki ke hana ʻia kēia mau loli genetic me ka ʻole o ka mōʻaukala ʻohana maopopo.
ʻOi aku ka maʻamau o kēia ʻano ma nā keikikāne ma mua o nā kaikamahine. ʻO ka maʻamau, nānā nui nā mākua a me nā kauka iā ia ke lohi loa ka wā ʻōpiopio o ke keiki. No laila, ʻo ka hapa nui, ʻike ʻia ʻo Kallmann Syndrome ma waena o 8 a me 15 mau makahiki.
Hoʻohana kekahi mau kauka i kahi inoa ʻē aʻe no kēia kūlana, ʻo ia hoʻi ka "hypogonadotropic hypogonadism" . ʻOiai paha he mea paʻakikī iki kēia, ʻo ia hoʻi, ʻaʻole lawa ka hana ʻana o nā testicles i nā keikikāne a me nā ovaries i nā kaikamahine i nā hormones wahine e pono ai no ka wā ʻōpio a me ka hana moekolohe. Maopopo iā ʻoe? ʻO ia hoʻi, aia kekahi ʻano hemahema i loko o ka ʻōnaehana hormonal.
He aha nā hōʻailona o ka maʻi Kallmann?
I kēia manawa, e nānā kākou i nā hōʻailona o kahi kanaka me Kallmann Syndrome e hōʻike nei. Hiki ke ʻike ʻia kekahi o kēia mau hōʻailona i ka wā kamaliʻi, a hiki ke ʻike ʻia kekahi ma hope o ka wā makua. ʻAʻole e loaʻa i nā kānaka a pau nā hōʻailona like.
ʻO ka mea nui, ʻo ia nā ʻano e pili ana i ka wā ʻōpio:
- I nā kaikamahine, ʻaʻole loa ka ulu ʻana o ka umauma a i ʻole ka liʻiliʻi loa .
- No nā kaikamahineʻAʻole paha e hiki mai ka menstruation (menstruation), a i ʻole e hiki mai ma hope loa ma mua o ka maʻamau a me ke ʻano ʻē.
- ʻOi aku ka liʻiliʻi o ka penis a me nā testicles o nā keikikāne ma mua o ka maʻamau .
- ʻO ka hānau ʻole ka emi ʻana a i ʻole ka nalowale ʻana o ka hiki ke hānau keiki i nā kāne a me nā wahine i ka wā makua.
Eia kekahi, hiki ke ʻike ʻia nā hiʻohiʻona ʻē aʻe:
- ʻO ka nalowale loa ʻana o ke ʻala (anosmia) a i ʻole ka emi ʻana o ke ʻala kekahi ʻano ʻē aʻe o ka maʻi Kallmann.
- Hiki i kekahi poʻe ke loaʻa nā pilikia kaulike i ka wā e hele ana a kū ana paha .
- I ka manawa kākaʻikahi loa , hiki ke loaʻa kahi māwae palale , ʻo ia hoʻi, he māwae hānau ma ka palale o luna.
- Nā pilikia niho , no ka laʻana, nā niho nalowale a i ʻole nā niho liʻiliʻi loa (nā ʻano niho ʻē).
- Nā pilikia o ka neʻe ʻana o ka maka , e like me nystagmus, kahi ʻano e neʻe wikiwiki ai nā maka me ke kāohi ʻole ʻia.
- Ke manaʻo mau nei i ka luhi loa (Fatigue) .
- Loaʻa i nā wāhine nā menstruation kūpono ʻole .
- Haʻahaʻa ka makemake moe kolohe .
- Nā loli koke o ka naʻau , i kekahi manawa hele pū me nā manaʻo pinepine o ka hopohopo, ke kaumaha, a me ka huhū.
- He mea kākaʻikahi loa, ʻo kahi maʻi i kapa ʻia ʻo "Renal agenesis" e hānau ʻia me ka ʻole o hoʻokahi puʻupaʻa .
- Hoʻomohala kekahi poʻe i kahi piʻo o ka iwi kuamoʻo (Scoliosis) .
- Ke piʻi ʻana o ke kaumaha me ke kumu ʻole .
ʻO ka mea nui, ʻaʻole i loaʻa i nā kānaka a pau kēia mau hōʻailona a pau. Hiki i kekahi poʻe ke nalowale i ko lākou ʻala. I ia mau hihia, kapa nā kauka i ke kūlana he "normosmic idiopathic hypogonadotropic hypogonadism (nIHH)". ʻO ke ʻano kēia, he mea maʻamau ke ʻala, akā aia ka pilikia hormone.
No ke aha lā e kū mai ai kēia kūlana?
ʻAe, ke noʻonoʻo nei paha ʻoe, 'No ke aha kēia e hana ai? He aha ke kumu?' ʻO ke kumu nui o ka Kallmann Syndrome kekahi mau loli a i ʻole nā hemahema i kekahi o nā genes i loko o ko mākou kino . Hoʻopilikia kēia mau loli i nā kaʻina hana paʻakikī e kaohi ana i ka wā ʻōpiopio o ke keiki, e hoʻomaka ana ma ka lolo.
ʻO ka maʻamau, hoʻomaka kēia kaʻina hana o ka wā ʻōpio ma kahi gland koʻikoʻi loa i ka lolo o ke keiki i kapa ʻia ʻo hypothalamus, kahi e hoʻokuʻu ai i ka hormone Gonadotropin-Releasing Hormone (GnRH).Me ka hana ʻana o kahi kemika i kapa ʻia. E noʻonoʻo i kēia `(GnRH)` ua like ia me ka ``kuhi haku`` e hoʻomaka ana i ke kaʻina holoʻokoʻa o ka wā ʻōpiopio. I loko o kahi keiki me ka maʻi Kallmann, ʻaʻole hana ka hypothalamus i ka lawa o kēia hormone `(GnRH)`, a ʻaʻole paha. No laila, no ka mea ʻaʻole i ``on`` kēlā ``kuhi haku``, ʻaʻole hoʻomaka pono ke kaʻina o ka wā ʻōpiopio.
ʻO kēia hormone `(GnRH)` ka mea e kōkua ai i ka oʻo ʻana o ka moekolohe, ka makemake moekolohe, a me ka hiki ke loaʻa nā keiki i ka wā e hiki mai ana (momona). Hele kēia hormone ma ke kahe koko i ka pituitary gland, kahi gland koʻikoʻi ʻē aʻe i loko o ka lolo. A laila hōʻailona ka hormone `(GnRH)` i ka pituitary gland e hana i ʻelua mau hormones ʻē aʻe. ʻO lākou kēia:
- ʻO ka hormone hoʻouluulu follicle (FSH)
- ʻO ka hormone Luteinizing (LH)
ʻO kēia mau hormones ʻelua, ʻo `(FSH)` a me `(LH)`, e hele pololei i nā ovaries o nā kaikamahine a me nā testicles o nā keikikāne, e kōkua ana iā lākou e hana i nā hormones moe (e like me ka estrogen a me ka testosterone) a ke kumu o ka ulu ʻana o ka moekolohe. No laila, i ka loaʻa ʻole o `(GnRH)`, ua hoʻopau ʻia kēia kaulahao holoʻokoʻa.
ʻO ke kumu o ka nele o ke ʻala e pili pū ana me kēia mau loli genetic. Hoʻopilikia pū kekahi mau loli genetic i ka hiki o ka lolo o ke keiki ke honi. ʻO ka maʻamau, ʻike nā hunaola olfactory i loko o ko mākou ihu i nā ʻala like ʻole a hoʻouna i kēlā ʻike i ka ʻōpū olfactory i loko o ka lolo (ka ʻāpana o ka lolo e kuleana no ke ʻala). I ka maʻi Kallmann, aia kahi pilikia me ka ulu ʻana o kēia mau hunaola olfactory a i ʻole ko lākou pilina me ka lolo. ʻO ka hopena, ʻaʻole hiki pono nā hōʻailona e pili ana i ke ʻala i ka lolo.
Pehea ka hopena o ka genetics?
Ua ʻike nā kānaka noiʻi i nā ʻokoʻa genetic he 25 a ʻoi aku e hoʻoulu ai i ka maʻi Kallmann a me nā kūlana "hypogonadotropic hypogonadism". ʻO ke ʻano kēia, ua hoʻokumu ʻia ke kūlana e nā gene he nui. No kēia mau mea, ua ʻike ʻia he nui nā genes e pili pono ana i ke kūlana:
- ʻO KAL1 (ANOS1)
- ʻO CHD7
- ʻO FGFR1
- ʻO GNRHR
- `IL17RD`
- `PROK2`
- `SOX10`
- ``TACR3`'
Hana ʻia kēia mau loli genetic i ka wā embryonic, ʻo ia hoʻi, ʻoiai ke keiki i loko o ka ʻōpū o ka makuahine. I kekahi manawa hiki ke hana wale ʻia kēia mau loli, me ke kumu ʻole. Eia nō naʻe, i nā hihia he nui, hiki ke hoʻoili ʻia kēia mau loli mai nā mākua a i nā keiki.
Aia kekahi mau ala e hoʻoili ʻia ai kēia mau loli hoʻoilina i nā keiki. Kāhea mākou i kēia mau ʻano hoʻoilina :
- Hoʻoilina autosomal recessive: I kēia hihia, ʻo nā mākua ʻelua nā mea lawe o ka ʻokoʻa genetic (ʻo ia hoʻi, ʻaʻohe o lākou mau hōʻailona, akā he gene kīnā ko lākou). I mea e loaʻa ai i kahi keiki kēia maʻi, pono nā mākua ʻelua e hoʻoilina i nā kope ʻelua o ka gene kīnā.
- Hoʻoilina autosomal dominant: Hiki ke hana i kēia kūlana inā loaʻa i ke keiki hoʻokahi kope o ka gene kīnā mai kekahi makua (ʻo ka makuahine a i ʻole ka makuakāne).
- Hoʻoilina i hoʻopili ʻia me ka X: I kēia hihia, aia ka gene hemahema ma ka chromosome X. Hiki i kēia ke hoʻopilikia nui aku i nā kāne.
ʻOiai he mau ʻoiaʻiʻo lapaʻau hohonu kēia, manaʻo wau he mea nui ia e loaʻa kahi manaʻo maʻamau pehea e hiki ai ke hoʻoili ʻia kēia ʻano mai kēlā hanauna a kēia hanauna ma o nā genes.
He aha nā pilikia e hiki ai i kēia ke hana?
He mea nui loa ka wā ʻōpiopio o ke keiki i ko lākou ulu kino a me ka noʻonoʻo. Hiki i ka Kallmann Syndrome ke pale i kahi keiki mai ka hiki ʻana i kēlā pae e like me ka mea i manaʻo ʻia. ʻO ke ʻano kēia, hiki ke lohi ka ulu ʻana o ka moekolohe o ke keiki i ka hoʻohālikelike ʻia me nā keiki ʻē aʻe o ka makahiki like, a i ʻole e pau loa paha.
E noʻonoʻo, i ka wā e noho ana kekahi keiki ʻōpio me nā hoaaloha ʻē aʻe o kona mau makahiki, pehea ka paʻakikī o ka ʻike ʻana e loli ana ke kino o kā lākou mau hoaaloha (e like me ke kiʻekiʻe ʻana, ka loli ʻana o ko lākou leo, ka ulu ʻana o ka ʻumiʻumi, ka ulu ʻana o nā umauma), akā ʻaʻole ko lākou iho? Hilahila paha lākou a hoʻohaʻahaʻa i ko lākou helehelena. Manaʻo paha lākou he ʻokoʻa lākou a kaʻawale mai nā poʻe ʻē aʻe. Ma muli o nā mea e like me kēia, ʻoi aku ka nui o ka loaʻa ʻana o nā pilikia noʻonoʻo i ke keiki e like me ke kaumaha a i ʻole ka hopohopo nui . He mea paʻakikī paha ke launa pū me nā poʻe ʻē aʻe ma ke kula a ma ke kaiāulu.
No laila, he mea nui loa ka hāʻawi ʻana i ka mālama kino i kahi keiki me kēia maʻi, a me ka mālama ʻana i ko lākou olakino noʻonoʻo, a me ka hāʻawi ʻana i ka ʻōlelo aʻo inā pono . He mea waiwai nui nō hoʻi ke kākoʻo o nā mākua a me nā kumu ma ʻaneʻi.
Pehea e ʻike ai nā kauka i kēia?
ʻO ka maʻamau, inā he mau hopohopo kāu e pili ana i ka ulu ʻana o kāu keiki, no ka laʻana, inā ʻaʻole lākou i hoʻomaka e hōʻike i nā hōʻailona o ka wā ʻōpio ma ka makahiki 13-14, e hele mua ʻoe e ʻike i kahi pediatrician. A i ʻole, hiki iā ʻoe ke ʻike i kahi endocrinologist.
ʻO ka mea mua a ke kauka e hana ai, ʻo ia ke nānā pono ʻana i ke kino o ke keiki. ʻO ia hoʻi, nānā lākou i ke kiʻekiʻe, ke kaumaha, a me nā hōʻailona o ka wā ʻōpiopio (e like me ka ulu ʻana o ka umauma a me ka ulu ʻana o ka ʻōpū). A laila nīnau lākou i ke keiki a me ʻoe (nā mākua) e pili ana i nā loli kino e ʻike pinepine ʻia e nā keiki ma waena o 8 a me 15 mau makahiki. Hiki iā lākou ke nīnau inā ua lohi ka wā ʻōpiopio o kekahi o ka ʻohana a ʻaʻole paha i hala i ka wā ʻōpiopio. E nīnau pū lākou inā he pilikia me ke ʻano o ka honi.
A laila, inā kānalua ke kauka i ka Kallmann Syndrome, hiki iā ia ke ʻōlelo i kekahi mau hoʻokolohua, e like me:
- Nā hoʻāʻo koko:ʻO kēia kekahi o nā hoʻokolohua koʻikoʻi loa. Nānā lākou i nā pae o nā hormones like ʻole i loko o ke kino. ʻO ke kikoʻī, ʻo nā hormones pituitary a mākou i kamaʻilio ai ma mua, i kapa ʻia ʻo FSH a me LH, a me nā hormones sex testosterone (i nā keikikāne) a me estrogen (i nā kaikamahine). ʻO ka maʻamau, haʻahaʻa kēia mau pae hormone i ka maʻi Kallmann.
- Nā hoʻāʻo e nānā i ke ʻala: He hoʻāʻo maʻalahi kēia. Hāʻawi ʻia ke keiki i nā ʻano ʻala like ʻole (e.g. kofe, kopa, mint) a noi ʻia e ʻike iā lākou.
- Nā hoʻāʻo genetic: Pili kēia i ka ʻimi ʻana i nā ʻokoʻa genetic kikoʻī i loko o kahi hāpana koko a mākou i kamaʻilio ai ma mua e pili ana me ka maʻi Kallmann. Eia naʻe, ʻaʻole hana mau ʻia kēia mau hoʻāʻo a hiki ke pipiʻi iki. Hana ʻia lākou inā pono, ma hope o nā hoʻāʻo ʻē aʻe.
- I kekahi manawa, hiki ke hana ʻia kahi scan MRI o ka lolo e ʻike ai inā he mau pilikia me ka hypothalamus a me nā kelepa pituitary, a i ʻole inā ʻaʻohe ulu ʻana o ka ʻōpuʻu olfactory.
Aia kekahi mau lāʻau lapaʻau?
ʻO ka mea pōmaikaʻi, aia nā lāʻau lapaʻau kūpono no ka Kallmann Syndrome. ʻO ka lāʻau lapaʻau nui ka hormone replacement therapy (HRT) . Pili kēia i ka hāʻawi ʻana i ke kino i nā hormones i hana ʻole ʻia e ia ma ke ʻano maoli a i ʻole e hana ana i nā nui haʻahaʻa. ʻO ka manaʻolana e kōkua kēia mau lāʻau lapaʻau i ka hoʻomaka ʻana o ka wā ʻōpio, hoʻomohala i nā ʻano moekolohe lua (e like me ka lauoho maka a me ka ulu ʻana o ka umauma), a hoʻoikaika i nā iwi.
Eia nō naʻe, ʻokoʻa paha nā lāʻau lapaʻau a me nā ʻano hormones i hāʻawi ʻia mai kēlā kanaka a kēia kanaka, ma muli o ke keiki he keikikāne a he kaikamahine paha, a ma muli o kona mau makahiki.
Eia kekahi o nā lāʻau lapaʻau i hoʻohana pinepine ʻia:
- No nā keikikāne: ʻO Testosterone ka hormone i hāʻawi ʻia. Hiki ke hāʻawi ʻia ma ke ʻano he inikini (ma kahi o hoʻokahi manawa i ka mahina), ma ke ʻano he ʻāpana ʻili, a i ʻole ma ke ʻano he gels ʻili i hoʻopili ʻia i kēlā me kēia lā .
- No nā kaikamahine: Hāʻawi mua ʻia ka Estrogen . Ma hope, hui pū ʻia me ka progesterone e hoʻoulu ai i ka menstruation. Hiki ke hāʻawi ʻia kēia mau mea ma ke ʻano he mau pila a i ʻole he mau ʻāpana ʻili.
- I kekahi manawa, ʻoi aku hoʻi no nā pākeke e hoʻolālā ana e loaʻa nā keiki, hiki ke hāʻawi ʻia ka mālama ʻana me ka pamu hormone GnRH a i ʻole nā inikini o nā hormones e like me FSH a me LH, e like me HCG (human chorionic gonadotropin) a me hMG (human menopausal gonadotropin), e hoʻoulu i ka ovulation (i nā wahine) a i ʻole ka hana sperm (i nā kāne).
Ma hope o ka hoʻomaka ʻana i kēia lāʻau lapaʻau, e nānā mau ke kauka i ke keiki, e nānā i nā pae hormone, a hoʻoponopono i ka nui o ka lāʻau lapaʻau e like me ka mea e pono ai.
He aha kāu e manaʻo ai i ka wā e noho ai me kēia maʻi?
Pono paha ke keiki me kēia maʻi e lawe i ka lāʻau hoʻololi hormone no ke koena o ko lākou ola a i ʻole no kekahi manawa lōʻihi . ʻO ia ke kūlana maʻamau.
Akā ʻo ka nūhou maikaʻi, hiki i nā kāne a me nā wahine me ka maʻi Kallmann ke loaʻa hou ka momona me ka lāʻau lapaʻau hormone kūpono. Aia nā lāʻau lapaʻau kūikawā no kēia. Hiki i kekahi mau kāne ke hoʻomau i ka hana ʻana i ka sperm ma hope o ka hoʻōki ʻana o ka lāʻau. Ua kapa nā kauka i kēia ʻo 'reversible Kallmann syndrome' . Akā, ʻaʻole kēia e hana i nā kānaka a pau.
ʻO ka ulu ʻana a me ke komo ʻana i ka wā ʻōpio he manawa ia o nā pilikia he nui i ke ola. ʻO ka loaʻa ʻana o ka Kallmann Syndrome hiki ke hoʻonui i kēlā pilikia. Hiki i kēia ke hoʻopaneʻe i ka wā ʻōpiopio, a i ʻole ka nalowale loa o ka wā ʻōpio. No laila, inā loaʻa i kāu keiki kēia maʻi, ʻaʻole paha lākou e ʻike i nā loli kino e hana ai ko lākou mau hoa. Hiki i kēia ke hoʻoluhi iā lākou e pili ana i ko lākou helehelena, hilahila, a hoʻāʻo e hoʻokaʻawale iā lākou iho mai nā poʻe ʻē aʻe. Manaʻo paha lākou ua waiho ʻia lākou, a i ʻole he ʻokoʻa lākou.
ʻOiai inā ʻaʻohe lā a manawa paʻa no ka wā ʻōpio, inā he mau nīnau a hopohopo paha kāu e pili ana i ka ulu ʻana o kāu keiki, ʻoiai ka ulu ʻana o ka moekolohe, ʻo ka mea maikaʻi loa e hana ai, ʻo ia ke kamaʻilio me kahi kauka keiki a i ʻole kahi loea hormone . Hiki iā lākou ke loiloi pono iā ʻoe a me kāu keiki a hāʻawi i ke alakaʻi a me ka lāʻau e pono ai.
Leka Lawe-Home
ʻAe, mai nā mea a mākou i kūkākūkā ai ma ka lōʻihi, ke lana nei koʻu manaʻo ua loaʻa iā ʻoe kahi manaʻo maikaʻi a maopopo e pili ana i ka Kallmann Syndrome.
I ka pōkole, ʻo ka maʻi Kallmann kahi maʻi laha ʻole e hoʻopaneʻe nui ai i ka wā ʻōpio a pinepine hoʻi ke kumu o ka nalowale ʻana o ke ʻala.
- ʻO ka pilikia nui i kēia, ʻo ia ke kaulahao hana hormone e hoʻomaka ana ma ka lolo.
- Hiki i kēia maʻi ke hoʻopili i nā kāne a me nā wahine , akā ʻoi aku ka maʻamau i nā keikikāne.
- Hiki i nā hōʻailona ke komo pū me nā mea e like me ka hōʻike ʻole ʻana i nā hōʻailona o ka wā ʻōpio i ka makahiki kūpono, ka nalowale a i ʻole ka emi ʻana o ke ʻala, nā pilikia niho, a me nā pilikia neʻe ʻana o nā maka.
- ʻO ka lāʻau lapaʻau hormone ka lāʻau lapaʻau nui. Pono paha kēia lāʻau lapaʻau i ke ola holoʻokoʻa.
- Hiki i ka lāʻau lapaʻau ke hoʻoulu pinepine i ka wā ʻōpio a hoʻihoʻi i ka hiki ke loaʻa nā keiki .
- He mea nui loa ke kākoʻo noʻonoʻo a me ke aʻo ʻana no nā keiki a me nā pākeke me kēia maʻi.
- Inā he kānalua kou e pili ana i ka wā ʻōpio o kāu keiki, mai hoʻokaʻulua a ʻike i ke kauka . ʻO ka wikiwiki o ka ʻike ʻia ʻana, ʻo ka maʻalahi ka hoʻomaka ʻana i ka lāʻau a hōʻemi i nā pilikia hiki.
Ke lana nei ko mākou manaʻo ua kōkua kēia ʻike iā ʻoe. E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi i kēia huakaʻi. Aia nā kauka akamai a me nā kākāʻōlelo ma Sri Lanka e kōkua a alakaʻi i ka poʻe e kū nei i nā kūlana like.
ʻO ka maʻi Kallmann , ka lohi o ka wā ʻōpiopio, ka nalowale o ke ʻala, anosmia, nā pilikia hormonal, nā maʻi genetic, hypogonadotropic hypogonadism











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