Yala nin fɛn sugu bɛ i den ɲɛkisɛw la wa? An ka (Syndrome de Blepharophimose) dɔn!

Tuma dɔw la, a bɛ se ka kɛ aw y’a kɔlɔsi ko den misɛnniw ɲɛkisɛw jɔlen don cogo kabakoma na. N’a sɔrɔ ɲɛw dabɔyɔrɔ ka dɔgɔn, walima a bɛ i n’a fɔ ɲɛkisɛw bɛ jigin. Ni i ye nin ɲɔgɔnna fɛn ye, o bɛ se ka siran dɔɔni i la i n’a fɔ denba. O waati suguw la, a nafa ka bon kosɛbɛ ka nin bana in dɔn, an bɛna kuma min kan, o kɔrɔ ye ko Blepharophimose Syndrome.

Blepharophimose Syndrome ye mun ye? N'an y'a fɔ cogo nɔgɔman na...

Nin ye bana ye min bɛ sɔrɔ jamu fɛ, min bɛ nɔ bila aw ɲɛkisɛw dilancogo la. Miiri k’a filɛ, an ɲɛkisɛw de ye fɛn nafamaba ye min bɛ ɲɛ tanga. O la, nin bana in bɛ mɔgɔ min na, o tigi ɲɛ dabɔli, n’o ye ɲɛw ni ɲɔgɔn cɛ cɛ ye, o ka dɔgɔn ka tɛmɛ mɔgɔ gansan kan. Ani fana, ɲɛda sanfɛla bɛ i n’a fɔ ɲɛkisɛ minnu bɛ jigin . Fɛn wɛrɛ ye ɲɛ kɔnɔna na, o kɔrɔ ye ko nugu fan fɛ, i bɛ se ka fari kuru fitini dɔ ye k’a ta ɲɛkisɛ dugumayanfan na ka taa ɲɛ sanfɛla la.

O kun ye fɛn dɔ yeli ye jɛnɛya la min bɛ wele ko `FOXL2`, walima i n'a fɔ dɔgɔtɔrɔw b'a fɔ cogo min na , fɛn falen . Fɛn wɛrɛ min nafa ka bon, o ye ko nin `Blepharophimose Syndrome` in bɛ muso minnu na, olu fana bɛ se ka bana sɔrɔ.

Tɔgɔ jan wɛrɛ bɛ yen dɔgɔtɔrɔw bɛ min fɔ o la, o ye `Blepharophimose, Ptosis, Epicanthus Inversus Syndrome` ye. A bɛ Weele fana ko `BPES` a surunyalen na. Dɔw fana bɛ se k’a wele ko ``ɲɛ da wulicogo fitinin.`` Nin ye bangekɔlɔsi bana ye , o kɔrɔ ye ko den bɛ se ka nin taamasiɲɛ ninnu ye a bange waati.

Daɲɛ min ye "blepharophimose" ye, o bɛ fɔ "bleph-a-ro-phi-mo-sis" ma. A mankan ka gɛlɛn dɔɔnin, tiɲɛ tɛ? Nka o tɛ baasi ye, an k'a fɔ dɔrɔn ko `BPES` nɔgɔya kosɔn.

Yala nin suguya dɔw bɛ yen wa? (BPES suguyaw) .

Ɔwɔ, nin `BPES` suguba fila bɛ yen. olu ye suguya fɔlɔ ni suguya filanan ye .

O suguya fla bɛɛ ka jogo dɔw bɛ yen:

• Ɲɛda minnu ka dɔgɔn ka tɛmɛ a cogo kɔrɔ kan (blepharophimose) .
• Ɲɛkisɛw bɛ jigin (ptosis) .
• Ɲɛw bɛ bɔ ɲɔgɔn na ka tɛmɛ a cogo kɔrɔ kan (telecanthus) .
• Fari kurulen min bɛ kuru ka taa sanfɛ ɲɛkisɛ duguma kɔnɔna na, o kɔrɔ ye ka taa nugu fan fɛ (epicanthus inversus) .

Sisan an k’a lajɛ danfara kɛrɛnkɛrɛnnen minnu bɛ nin sugu fla ninnu ni ɲɔgɔn cɛ.

BPES suguya fɔlɔ

Ni BPES suguya fɔlɔ bɛ aw la, a bɛ se ka bana dɔ lase aw ma min bɛ wele ko Primary Ovarian Insufficiency (POI) . Mɔgɔ dɔw fana b’o wele ko " ovarian failure premature". N’an y’a fɔ cogo nɔgɔman na, o ye ni muso ka kɔnɔbaraw bɛ baara dabila ka kɔn waati makɔnɔnen ɲɛ.

BPES suguya filanan (BPES suguya filanan) .

Nka ni BPES suguya filanan bɛ aw la, o tɛ gɛlɛya wɛrɛw lase aw farikolo ma, o kɔrɔ ye ko gɛlɛya belebele wɛrɛw bɛ aw farikolo bɛɛ la. Taamasiɲɛ minnu bɛ ye kosɛbɛ, olu dɔrɔn de bɛ tali kɛ ɲɛw la.

Blepharophimose syndrome ka teli ka kɛ cogo di?

Diɲɛ kɔnɔ, nin `Blepharophimose Syndrome` in bɛ ye ni hakɛ ye min bɛ se den 50.000 o 50.000 ma . O kɔrɔ ye ko a ye bana ye min man teli ka sɔrɔ dɔɔni.

Blepharophimose syndrome taamasiɲɛw ni a taamasiɲɛw ye jumɛnw ye?

Nin `Blepharophimose Syndrome` taamasiɲɛw bɛ nɔ bila aw ɲɛw cogoya la kosɛbɛ. An ye kuma ta taamasiɲɛba naani minnu kan ka tɛmɛ, aw hakili to olu la:

• Ɲɛda misɛnniw.
• Ɲɛkisɛw bɛ jigin ( Ptosis ).
• Ɲɛw sigilen don yɔrɔ caman na (Telecanthus).
• Fari kurulen min bɛ kuru ka taa ɲɛ kɔnɔna duguma dakunw kan (Kɔnɔna ɲɛkisɛ duguma minnu bɛ kuru ka taa sanfɛ - Epicanthus Inversus).

Aw ye miiri dɔrɔn, nin taamasiɲɛ ninnu bɛ se ka den ɲɛda cogoya yɛlɛma dɔɔni. A bɛnnen don bangebagaw ka hami ni u ye nin ye. Nka aw kana aw hakili ɲagami, fɛn dɔw bɛ yen minnu bɛ se ka kɛ nin ko in na.

Ka fara o fɛnba ninnu kan, fɛn wɛrɛw bɛ se ka ye:

• Ectropion (ɲɛkisɛw jiginni ka taa kɛnɛma).
• Strabismus, a bɛ fɔ fana ko "ɲɛw tigɛlen ", o ye bana ye min bɛ ɲɛw tigɛtigɛ.
• Amblyopia , o bɛ sɔrɔ ɲɛkisɛw jigintɔ fɛ min bɛ yeli bali. Walasa ka a fɔ tigitigi, ɲɛkisɛ bɛ yeli bali.
• Tulo sɔgɔlen , n’a bɛ fɔ fana ko "tulo tulo" walima "tulo lop", o kɔrɔ ye ko tulo dawolo bɛ se ka kurukuru walima ka da duguma.
• Tulo minnu bɛ sigi duguma.
• Numukɛ ka bɔrɔ belebeleba dɔ.
• Nu ni sanfɛla dawolo cɛ danfara ka dɔgɔn ka tɛmɛ a cogo kɔrɔ kan.
• Mɔgɔ minnu bɛ ni suguya fɔlɔ ye, olu bɛ ni kɔnɔbara basigilen fɔlɔ (POI) ye.

Mun na o bɛ kɛ? O sababu ye mun ye? (Mun bɛ kɛ sababu ye ka blefarophimose syndrome?)

Nin `Blepharophimosis Syndrome` in sababuba ye fɛn dɔ caman cili ye walima fɛn caman cili ye jamu dɔ la min bɛ wele ko `FOXL2`. O bɛ sɔrɔ jɛnɛya fɛ cogo la min bɛ kɛ ni otosomali ye .

N’an y’a fɔ cogo nɔgɔman na, o kɔrɔ ye ko hali ni bangebaga kelen dɔrɔn de bɛ ni nin jamu caman caman cili (yɔrɔ caman caman cili) ye, den bɛ se k’a ciyɛn ta.Nka, mɔgɔ dɔw bɛ se ka bana in sɔrɔ u siɲɛ fɔlɔ la k’a sɔrɔ u ma a ciyɛn ta u bangebagaw fɛ. O cogo la, dɔgɔtɔrɔw b’a fɔ ko a ye fɛn ye min bɛ wele ko "fresh" walima kura, o kɔrɔ ye ko a ma ciyɛn sɔrɔ bangebaga dɔ fɛ min bananen don.

Gɛlɛya wɛrɛ minnu bɛ se ka sɔrɔ o sababu fɛ (Blepharophimose syndrome gɛlɛyaw ye mun ye?)

blefarophimosis bɛ se ka nɔ bila aw ka yeli la . Farati bɛ aw la ka ɲɛnayeli filiw sɔrɔ , o bɛ se ka kɛ sababu ye ka yeli tiɲɛ yɔrɔjan walima yɔrɔ kɛrɛfɛ.

Kɛrɛnkɛrɛnnenya la, denmisɛnniw ni denmisɛnni fitini minnu ka ptosis jugumanba bɛ u la (bana min bɛ wele ko ɲɛ sɛgɛnnen) olu bɛ se ka bana dɔ sɔrɔ min bɛ wele ko ɲɛnamini . O bɛ kɛ barisa ɲɛkisɛw bɛ u ka yeli bali, o bɛ kunsɛmɛ bali ka taamasiɲɛw sɔrɔ ka bɔ o ɲɛ na. Ni o ma furakɛ joona, o ɲɛ yeli bɛ se ka tiɲɛ pewu.

O bɛ sɛgɛsɛgɛ cogo di? (Blepharophimose syndrome bɛ sɔrɔ cogo di?)

Aw ka dɔgɔtɔrɔ bɛ se ka sigasiga ko Blepharophimose Syndrome (Blepharophimose Syndrome) bɛ aw la, an ye kuma minnu kan ka tɛmɛ kɛnɛyaso taamasiɲɛba naani kan, ani ka ɲɛ sɛgɛsɛgɛli kɛ kɔfɛ. Ɲɛdɔgɔtɔrɔ dɔ bɛ se ka nin sɛgɛsɛgɛli ninnu dɔw walima u bɛɛ kɛ:

• Ɲɛnabɔli sɛgɛsɛgɛli: O ye k’a ɲini i fɛ i ka lɛtɛrɛw kalan jatebɔsɛbɛn dɔ kan. Nin sɛgɛsɛgɛli in bɛ se ka dɔgɔtɔrɔ dɛmɛ a k’a dɔn ni ɲɛnamini filiw bɛ aw la, i n’a fɔ ka yeli kɛ yɔrɔ jan walima ka yeli kɛ yɔrɔ jan.
• Ɲɛ lafiyalen (Amblyopia) ni ɲɛnamini sɛgɛsɛgɛliw .
• Joli sɛgɛsɛgɛli minnu bɛ kɛ walasa ka bangekɔlɔsi hormone hakɛ dɔn (kɛrɛnkɛrɛnnenya la ni siga bɛ a la ko suguya fɔlɔ).
• Jɛnkulu sɛgɛsɛgɛliw : O bɛ se k’a jira ni fɛn dɔ b’a la ka fɛn dɔ sɛgɛsɛgɛ `FOXL2` jamu kɔnɔ.

Furakɛliw ye jumɛnw ye? (Blepharophimose syndrome bɛ furakɛ cogo di?)

a ka ca a la , blepharophimose Syndrome bɛ furakɛ ni opereli ye denmisɛnniw na . Ni u si bɛ san 3 ni san 5 cɛ, opereli bɛ kɛ walasa ka banaw latilen minnu bɛ wele ko epicanthus inversus (ɲɛkisɛ kɔnɔna fari foli) ani telecanthus (ɲɛ minnu ni ɲɔgɔn cɛ ka jan). O kɔ, san kelen ɲɔgɔn o kɔfɛ, operelikɛla dɔ bɛ opereli wɛrɛ kɛ walasa ka ɲɛkisɛ min bɛ jigin (ptose) latilen. Tuma dɔw la, opereli ninnu bɛɛ bɛ se ka kɛ waati kelen na, nka o man teli ka kɛ.

O opereli ninnu tɛ kɛ dɔrɔn walasa ka ɲɛw yecogo ɲɛ, nka u bɛ kɛ fana walasa ka den ka yelikɛcogo ɲɛ. Sabula ni ɲɛkisɛw datugulen don, yeli tɛna yiriwa ka ɲɛ.

Ni BPES suguya fɔlɔ bɛ aw la, o kɔrɔ ye ko kɔnɔbara basigilen fɔlɔ, aw ka dɔgɔtɔrɔ bɛ se ka furakɛli kɛ aw la ka ɔrimɔni caman ci , kɛrɛnkɛrɛnnenya la ɔrimɔni faralen ɲɔgɔn kan. Nka, a nafa ka bon an k’an hakili to a la ko nin furakɛli ninnu tɛ bangekɔlɔsi fɛɛrɛw ɲɛnabɔ . Aw ka kan ka baro kɛ o kan ni bangekɔlɔsi dɔgɔtɔrɔ dɔ ye.

Yala fɛɛrɛ bɛ yen min bɛ se ka o bali wa? (Ne bɛ se ka dɔ bɔ ne ka bana sɔrɔli la cogo di?)

Fɛɛrɛ kɛrɛnkɛrɛnnen tɛ yen min bɛ se ka Blepharophimose Syndrome kunbɛn, barisa a ye bana ye min bɛ sɔrɔ jamu fɛ. Nka, ni bana in bɛ aw ka denbaya kɔnɔ mɔgɔ dɔ la, a ka ɲi aw ka jateminɛ kɛ jamu ladilikanw na sani aw ka den sɔrɔ. O cogo la, aw bɛ se ka fɛn caman dɔn o kan ani ka kuma farati min bɛ aw den na ka a ciyɛn ta.

Ne bɛ se ka mun makɔnɔ ni blepharophimose syndrome (banakisɛfagalan) bɛ ne la?

Ni Blepharophimose Syndrome bɛ aw la, aw ka kan ka ɲɛ sɛgɛsɛgɛ tuma bɛɛ . O bɛ se ka dɛmɛ don ka a lajɛ ni aw ka yeli ka ɲi ani ni gɛlɛya wɛrɛw bɛ yen.

Ni suguya fɔlɔ bɛ aw la, aw ka kan ka kuma kɔnɔbara basigilen dɔgɔtɔrɔ walima bangekɔlɔsi dɔgɔtɔrɔ dɔ fɛ ɔrimɔni ni bangeko koɲɛw kan.

Blepharophimose Syndrome bɛ se ka furakɛ, nka a tɛ se ka furakɛ. O kɔrɔ ye ko hali ni opereli bɛ se ka ɲɛw cogoya ni u baaracogo segin u cogo kɔrɔ la fo ka se hakɛ dɔ ma, a tɛ se ka jamu sababu basigilen Changer.

Ne ka kan ka ɲininkali jumɛnw kɛ ne ka kɛnɛyabaarakɛla la?

A ka ɲi aw ka dɔgɔtɔrɔ ɲininka nin ɲininkali ninnu na:

• Ne ka kan ka ne ɲɛw lajɛ siɲɛ joli?
• Yala aw bɛ ladilikan di jamu ma wa?
• Aw bɛ se ka hakilina jumɛnw di walasa ka bangeko gɛlɛyaw ɲɛnabɔ?
• Ko jumɛnw na aw bɛna a ɲini ka taa kɛnɛyaso la ka da nin bana in kan?

Danfara jumɛn bɛ Blepharophimosis hakiliɲagami bana ni nin cɛ?

Nin fana bɛ mɔgɔ hakili ɲagami dɔɔnin, o la a ka ɲi ka ɲɛfɔli kɛ. Bana minnu bɛ wele ko `Blepharophimosis intellectual disability syndromes`, olu fana bɛ se ka ɲɛkisɛw ye minnu bɛ jigin ani minnu ka dɔgɔn ka tɛmɛ a cogo kɔrɔ kan. Nka, u tɛ `telecanthus` (ɲɛw bilalen yɔrɔ jan) walima `epicanthus inversus` (kɔnɔna fari kurulenw) ye.

Min nafa ka bon kosɛbɛ, o ye ko `Blepharophimosis intellectual disability syndromes` bɛ mɔgɔ minnu na, olu hakili bɛ bonya dɔɔni dɔɔni.O misaliw ye banaw ye minnu bɛ wele ko `Ohdo syndrome` ani `Say-Barber-Biesecker-Young-Simpson syndrome.` Dɔnniyakɛlaw y’a jateminɛ ko nin hakililata bana ninnu bɛ mɔgɔ 1000 bɔ Ameriki.

Nka, `Blepharophimose Syndrome (BPES)` bɛ mɔgɔ minnu na, an bɛ kuma minnu kan, hakiliɲagami tɛ olu la. O de ye danfaraba ye.

Blepharophimose Syndrome, walima BPES, ye bana ye min man teli ka sɔrɔ a bange waati. Aw ni aw ka dɔgɔtɔrɔso jɛkulu bɛ se ka nin bana in kunbɛn ka ɲɛ. A ka ca a la opereli min bɛ kɛ walasa ka ɲɛkisɛw gɛlɛyaw latilen, o ye furakɛli bolodacogo dɔ ye.

Take-Home cikan

Okey, donc, ka bɔ an ye baro kɛ min kan, n jigi b’a kan ko aw ye hakilina ɲuman sɔrɔ `Blepharophimose Syndrome` kan. Ka hakilina jigi:

• Nin ye bana ye min bɛ sɔrɔ jamu fɛ , a bɛ ɲɛkisɛw de minɛ kosɛbɛ.
• A taamasiɲɛ kunbabaw ye ɲɛdimi misɛnniw ye, ɲɛkisɛw bɛ jigin, ɲɛw bɛ bila yɔrɔ jan, ani fari kurulen kɔnɔna na.
• Sugu fla bɛ yen (`Sugu I` ani `Sugu II`) . `Type I` la, kɔnɔbara basigilen fana bɛ se ka bana.
• O tɛ hakiliɲagami bila mɔgɔ la.
• Opereli bɛ se ka ɲɛw cogoya ni u baaracogo ɲɛ.
• Ɲɛ sɛgɛsɛgɛli kɛli tuma bɛɛ ani ni a mago bɛ a la, ɔrimɔni furakɛli nafa ka bon.

A bɛnnen don ka siran ani ka hami ni aw y’a ye ko nin bana in bɛ aw den na. Nka, i hakili to a la ko i kelen tɛ. Dɔgɔtɔrɔw ni furakɛli ɲuman dɛmɛni fɛ, mɔgɔ caman sera ka nin bana in kunbɛn ani ka ɲɛnamaya kɛ cogo bɛnnen na. O la, aw ka barika sɔrɔ ani ka dɔgɔtɔrɔ ka ladilikan wajibiyalenw ɲini.

` Blepharophimose, BPES, Ɲɛkisɛw, Bana minnu bɛ sɔrɔ jamu fɛ, Ptosis, Epicanthus Inversus, Ɲɛ kɛnɛya