Kodi maso a mwana wanu ali ndi kusintha kotere? Tiyeni tiphunzire za (Blepharophimosis Syndrome)!

Nthawi zina mwina mwazindikira kuti maso a ana aang'ono ali pamalo achilendo. Mwina kutsegula maso ndi kochepa, kapena maso akuoneka ngati akuwerama. Kuona chinthu chonga ichi kungakupangitseni mantha pang'ono ngati mayi. Nthawi ngati zimenezi, ndikofunikira kwambiri kudziwa za vutoli lomwe tikambirane, lomwe ndi Blepharophimosis Syndrome.

Kodi Blepharophimosis Syndrome ndi chiyani? Mwachidule...

Ichi ndi matenda a majini omwe amakhudza momwe maso anu amapangikira. Taganizirani izi, maso athu ndi gawo lofunika kwambiri lomwe limateteza maso. Chifukwa chake, kutsegula maso kwa munthu amene ali ndi vutoli, ndiko kuti, mpata pakati pa maso, ndi wocheperapo kuposa munthu wamba. Komanso, maso apamwamba amawoneka ngati maso opindika . Chinthu china ndi chakuti mkati mwa diso, ndiko kuti, kumbali ya mphuno, mutha kuwona khungu laling'ono kuchokera ku maso otsika kupita ku maso apamwamba.

Chifukwa cha izi ndi kusintha kwa jini yotchedwa `FOXL2`, kapena monga momwe madokotala amatchulira , kusintha kwa majini . Chinthu china chofunikira ndichakuti mazira a akazi omwe ali ndi `Blepharophimosis Syndrome` amathanso kukhudzidwa.

Palinso dzina lina lalitali lomwe madokotala amagwiritsa ntchito pa izi, lomwe ndi `Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome`. Limatchedwanso `BPES` mwachidule. Ena angatchulenso kuti ``small eye opening syndrome``. Ili ndi vuto lobadwa nalo , kutanthauza kuti mwana amatha kuona zizindikirozi akangobadwa.

Mawu akuti "blepharophimosis" amatchulidwa kuti "bleph-a-ro-phi-mo-sis." Zikumveka zovuta pang'ono, sichoncho? Koma palibe vuto, tiyeni tinene kuti `BPES` kuti tipeze mosavuta.

Kodi pali mitundu ya izi? (Mitundu ya BPES)

Inde, pali mitundu iwiri ikuluikulu ya `BPES` iyi. Ndi Mtundu Woyamba ndi Mtundu Wachiwiri .

Pali makhalidwe ofanana a mitundu yonse iwiri:

• Maonekedwe a maso omwe ndi ang'onoang'ono kuposa achizolowezi (blepharophimosis) .
• Makope opindika (ptosis) .
• Maso ali kutali kwambiri kuposa masiku onse (telecanthus) .
• Khungu lopindika lomwe limapindika mmwamba mkati mwa chikope cha m'munsi, kutanthauza, ku mphuno (epicanthus inversus) .

Tsopano tiyeni tiwone kusiyana kwapadera pakati pa mitundu iwiriyi.

BPES Mtundu Woyamba

Ngati muli ndi BPES type I, ingayambitse vuto lotchedwa Primary Ovarian Insufficiency (POI) . Anthu ena amatchanso izi kuti "kulephera kwa ovarian msanga." Mwachidule, ndi pamene mazira a mkazi amasiya kugwira ntchito nthawi isanakwane.

Mtundu wa BPES II (Mtundu wa BPES II)

Koma ngati muli ndi BPES type II, sizimayambitsa mavuto ena m'thupi lanu, kutanthauza mavuto ena akuluakulu omwe amakhudza thupi lonse. Zizindikiro zokha zomwe zimawoneka kwambiri ndi zomwe zimakhudza maso.

Kodi blepharophimosis syndrome ndi yofala bwanji?

Padziko lonse lapansi, `Blepharophimosis Syndrome` iyi imapezeka pafupifupi mwana m'modzi mwa ana 50,000 obadwa . Izi zikutanthauza kuti ndi vuto losowa kwambiri.

Kodi zizindikiro za blepharophimosis syndrome ndi ziti?

Zizindikiro za `Blepharophimosis Syndrome` zimakhudza kwambiri mawonekedwe a maso anu. Kumbukirani zizindikiro zinayi zazikulu zomwe tidakambirana kale:

• Maso ang'onoang'ono otseguka.
• Makope opindika ( Ptosis ).
• Maso okongola kwambiri (Telecanthus).
• Khungu lopindika lomwe limapindika pa zikope zamkati za m'munsi (Zikope zamkati za m'munsi zomwe zimapindika - Epicanthus Inversus).

Tangoganizani, zizindikiro zimenezi zingasinthe pang'ono mawonekedwe a nkhope ya mwana. Ndizachibadwa kuti makolo azida nkhawa akaona izi. Koma musadandaule, pali zinthu zomwe zingathandize pa izi.

Kuwonjezera pa zinthu zazikulu izi, zinthu zina zitha kuwoneka:

• Ectropion (kutembenuza diso kupita kunja).
• Strabismus, yomwe imadziwikanso kuti "maso opindika ", ndi vuto lomwe maso amapindika.
• Amblyopia , yomwe imayamba chifukwa cha chikope chopindika chomwe chimatseka maso. Kunena zoona, chikopecho chimatseka maso.
• Makutu opindika , omwe amadziwikanso kuti "makutu a chikho" kapena "makutu opindika," amatanthauza kuti m'mphepete mwa makutu a khutu mutha kukhala ndi makwinya kapena kupindika.
• Makutu otsika.
• Mlatho waukulu wa mphuno.
• Mpata pakati pa mphuno ndi mlomo wapamwamba ndi wocheperako kuposa wamba.
• Anthu omwe ali ndi mtundu woyamba ali ndi vuto lalikulu la ovarian insufficiency (POI).

Nchifukwa chiyani izi zimachitika? Kodi zimayambitsa chiyani? (N’chiyani chimayambitsa matenda a blepharophimosis?)

Chifukwa chachikulu cha `Blepharophimosis Syndrome` iyi ndi kusintha kapena kusintha kwa majini otchedwa `FOXL2`. Izi zimafalikira kudzera m'majini mwanjira yolamulira ya autosomal .

Mwachidule, izi zikutanthauza kuti ngakhale kholo limodzi lokha litakhala ndi jini yosinthidwayi (yosinthidwa), mwanayo akhoza kuilandira.Komabe, anthu ena amatha kukhala ndi vutoli koyamba popanda kulitengera kwa makolo awo. Pazochitika zotere, madokotala amati ndi kusintha kwa majini "kwatsopano" kapena kwatsopano, zomwe zikutanthauza kuti sikunatengedwe kuchokera kwa kholo lomwe ladwala.

Mavuto ena omwe angabwere chifukwa cha izi (Kodi mavuto a blepharophimosis syndrome ndi ati?)

Blepharophimosis ingakhudze masomphenya anu . Muli pachiwopsezo chachikulu chokhala ndi zolakwika zoyang'ana kumbuyo , zomwe zingayambitse kutayika kwa masomphenya patali kapena pafupi.

Makamaka, makanda ndi ana aang'ono omwe ali ndi vuto lalikulu la ptosis (vuto lotchedwa lazy eye) amatha kukhala ndi vuto lotchedwa amblyopia . Izi zili choncho chifukwa chakuti zikope zimatseka maso awo, zomwe zimalepheretsa ubongo kulandira zizindikiro kuchokera ku diso limenelo. Ngati izi sizikuchiritsidwa mwachangu, masomphenya m'diso limenelo amatha kusokonekera kwamuyaya.

Kodi izi zimapezeka bwanji? (Kodi matenda a blepharophimosis amapezedwa bwanji?)

Dokotala wanu angaganize kuti muli ndi Blepharophimosis Syndrome ataona zizindikiro zinayi zazikulu zachipatala zomwe takambirana kale ndikuchita mayeso a maso. Katswiri wa maso angachite mayeso ena kapena onsewa:

• Kuyesa kuwona bwino: Izi zikuphatikizapo kukufunsani kuti muwerenge zilembo pa tchati. Kuyesa kumeneku kungathandize dokotala wanu kudziwa ngati muli ndi zolakwika zoyang'ana patali, monga kuwona pafupi kapena kuwona patali.
• Mayeso a maso aulesi (Amblyopia) ndi strabismus .
• Kuyezetsa magazi kuti awone kuchuluka kwa mahomoni obereketsa (makamaka ngati akukayikiridwa kuti ndi mtundu woyamba).
• Mayeso a majini : Izi zitha kutsimikizira ngati pali kusintha kwa majini a `FOXL2`.

Kodi mankhwala ake ndi otani? (Kodi matenda a blepharophimosis amachiritsidwa bwanji?)

Matenda a Blepharophimosis nthawi zambiri amachiritsidwa ndi opaleshoni ali ana . Pakati pa zaka 3 ndi 5, opaleshoni imachitidwa kuti ikonze matenda otchedwa epicanthus inversus (kupindika kwa khungu la mkati mwa chikope) ndi telecanthus (maso omwe ali kutali). Kenako, patatha chaka chimodzi, dokotala wa opaleshoni amachitanso opaleshoni kuti akonze chikope chopindika (ptosis). Nthawi zina opaleshoni zonsezi zimatha kuchitika nthawi imodzi, koma izi sizichitika kawirikawiri.

Opaleshoni imeneyi imachitika osati kokha kuti maso awoneke bwino, komanso kuti mwanayo azitha kuona bwino. Chifukwa ngati maso atsekedwa, maso sadzakula bwino.

Ngati muli ndi BPES type I, zomwe zikutanthauza kuti Primary Ovarian Insufficiency, dokotala wanu angakulangizeni mankhwala obwezeretsa mahomoni , makamaka mankhwala owonjezera a estrogen. Komabe, ndikofunikira kukumbukira kuti mankhwala awa sathetsa kusabereka . Muyenera kukambirana izi ndi katswiri wa zaumoyo wobereka.

Kodi pali njira yopewera izi kuti zisachitike? (Ndingachepetse bwanji chiopsezo changa chokhala ndi matenda a blepharophimosis?)

Palibe njira yeniyeni yopewera Blepharophimosis Syndrome, chifukwa ndi matenda a majini. Komabe, ngati wina m'banja mwanu ali ndi matendawa, ndi bwino kuganizira uphungu wa majini musanayambe kukhala ndi mwana. Mwanjira imeneyi, mutha kuphunzira zambiri za matendawa ndikukambirana za chiopsezo cha mwana wanu cholowa.

Kodi ndingayembekezere chiyani ngati ndili ndi blepharophimosis syndrome?

Ngati muli ndi Blepharophimosis Syndrome, muyenera kuyesedwa maso nthawi zonse . Izi zingathandize kuona ngati maso anu ali bwino komanso ngati pali mavuto ena.

Ngati muli ndi matenda amtundu woyamba, muyenera kulankhula ndi katswiri wa matenda a endocrinologist kapena katswiri wa zaumoyo wobereka za mavuto a mahomoni ndi kubereka.

Matenda a Blepharophimosis amatha kuchiritsidwa, koma sangachiritsidwe. Izi zikutanthauza kuti, ngakhale opaleshoni ingabwezeretse mawonekedwe ndi ntchito ya maso pang'ono, sangasinthe chifukwa cha majini.

Ndi mafunso ati omwe ndiyenera kufunsa dokotala wanga?

Ndi bwino kufunsa dokotala mafunso monga awa:

• Kodi ndiyenera kuyesedwa maso anga kangati?
• Kodi mumalimbikitsa uphungu wa majini?
• Ndi malingaliro otani omwe mungapereke pothana ndi mavuto osabereka?
• Kodi ndi zinthu ziti zomwe muyenera kupita kuchipatala chadzidzidzi chifukwa cha vutoli?

Kodi pali kusiyana kotani pakati pa Blepharophimosis intellectual disability syndrome ndi izi?

Izi zikusokonezanso pang'ono, kotero ndibwino kufotokoza bwino. Anthu omwe ali ndi matenda otchedwa `Blepharophimosis intellectual disability syndromes` amathanso kuwona zikope zopindika komanso maso otseguka pang'ono kuposa achizolowezi. Komabe, sawona `telecanthus` (maso otalikirana) kapena `epicanthus inversus` (makwinya amkati mwa khungu).

Chofunika kwambiri ndichakuti anthu omwe ali ndi vuto la `Blepharophimosis intellectual disability syndromes` azitha kukula pang'onopang'ono m'maganizo.Zitsanzo za izi zikuphatikizapo matenda otchedwa `Ohdo syndrome` ndi `Say-Barber-Biesecker-Young-Simpson syndrome.` Asayansi akuyerekeza kuti ku United States kuli anthu osakwana 1,000 omwe ali ndi matenda amisala awa.

Komabe, anthu omwe ali ndi `Blepharophimosis Syndrome (BPES)` omwe tikukambawa alibe vuto la maganizo. Ichi ndiye kusiyana kwakukulu.

Matenda a Blepharophimosis, kapena BPES, ndi matenda osowa omwe amapezeka munthu akangobadwa. Inu ndi gulu lanu lachipatala mungathe kuthana ndi vutoli bwino. Opaleshoni yokonza mavuto a zikope nthawi zambiri ndi gawo la dongosolo la chithandizo.

Uthenga Wopita Nawo Kunyumba

Chabwino, kuchokera pa zomwe takambiranazi, ndikukhulupirira kuti mwapeza lingaliro labwino lokhudza `Blepharophimosis Syndrome`. Kumbukirani:

• Imeneyi ndi matenda a majini , makamaka omwe amakhudza maso.
• Zizindikiro zazikulu ndi maso ang'onoang'ono otseguka, zikope zopindika, maso akutali, ndi khungu lopindika mkati.
• Pali mitundu iwiri (`Mtundu Woyamba` ndi` Mtundu Wachiwiri`) . Mu `Mtundu Woyamba`, mazira amathanso kukhudzidwa.
• Izi sizimayambitsa vuto la nzeru.
• Opaleshoni ingathandize kuti maso azioneka bwino komanso azigwira bwino ntchito.
• Kuyezetsa maso nthawi zonse , ndipo ngati pakufunika, kulandira chithandizo cha mahomoni n'kofunika.

Ndizachibadwa kukhala ndi mantha komanso nkhawa mukazindikira kuti mwana wanu ali ndi vutoli. Koma kumbukirani kuti simuli nokha. Mothandizidwa ndi madokotala ndi chithandizo choyenera, anthu ambiri akwanitsa kuthana ndi vutoli ndikukhala moyo wabwinobwino. Choncho, khalani olimba mtima ndipo funsani upangiri wofunikira kwa dokotala.

Blepharophimosis , BPES, Zikope, Matenda a Majini, Ptosis, Epicanthus Inversus, Thanzi la Maso