I naute hian thluak hmasawnna lama harsatna a nei em? Holoprosencephaly (HPE) chungchang zir rawh

Nausen piang thar kan en hian kan hlimna leh hmangaihna kan neihte chu thuin a sawi chhuak thei lo a ni lawm ni? Mahse a chang chuan, kan naute hi kan beisei loh hrisel lohna neiin he khawvelah hian an lo kal thei a ni. Vawiin hian nau piangsual pakhat, a buaithlak deuh, mahse kan hriat reng tur chungchang kan sawi dawn a ni.

Holoprosencephaly (HPE) hi eng nge ni?

A awlsam zawngin, Holoprosencephaly, HPE tia hriat bawk hi pianpui natna a ni a, naute chu a pum chhunga a la awm laiin a lo awm a ni. Hei hi piansualna a ni. Hetiang dinhmunah hian nausen thluak chu a lo thanglian zel angin dinglam leh veilam hemisphere-ah a inthen tha lo. Kan thluak hi a tlangpuiin hmunpui pahnih, dinglam hemisphere leh veilam hemisphere-ah a inthen tih i hria em. Heng hemisphere pahnih hi an inzawm khawm a, nerve fiber bundle pakhat corpus callosum an tih hmangin information an inthleng a ni. Tin, heng hemisphere tinte hi hmun dangah an inthen a, chungte chu frontal lobe, parietal lobe, occipital lobe leh temporal lobe te hi a ni.

Hetianga thluak hmun hrang hranga inthen hi a pawimawh hle. A chhan chu he inthenna hian thluak hian a rualin information tam tak a process a, hna hrang hrang a thawk thei a ni. Chuvangin, `(HPE)` ang bawkin, thluak a lo thanglian tha laiin he inthenna hi a lo awm lo a nih chuan taksa leh nervous system nena inzawm harsatna engemaw zat a thlen thei a ni.

Hetiang dinhmun, ‘HPE’ tia koh hi nausen pian tirh lamah a lo awm tan a ni. Chumi awmzia chu i naupai tih i hriat hma pawhin a ni thei tihna a ni. Holoprosencephaly hi chi hrang hrang a awm a, a nasat dan leh a lan chhuah dan pawh a inang lo. He natna hian naupang tinte a nghawng dan pawh a inang lo thei bawk.

Holoprosencephaly (HPE) chi hrang hrangte chu engte nge ni?

Holoprosencephaly (HPE) hi chi thum a awm a. A tam zawk atanga a nasat loh ber thlengin i en ang u:

Alobar holoprosencephaly natna a ni

Hei hi a na ber chi a ni . Heta thil thleng chu nausen thluak hi hemisphere pahnih ah a inthen lo tak zet a ni. Chuvang chuan thluak leh hmai inkara awm structure te chu a bo a, thluak kawngkhar te chu a inzawm khawm ta a ni. Hemi rual hian hmai lama natna khirh tak tak hmuh tur a awm bawk. A tam zawkah chuan hetiang `(HPE)` vei naute hi an pian hnu lawkah thi emaw, thi emaw an ni.

Semilobar holoprosencephaly natna a ni

Hetiang chiah hian nausen thluak hi a then chauh hemisphere pahnih ah a inthen a ni . Hei hi thluak veilam chu ``frontal lobes`` leh ``parietal lobes`` an tih hmunah te dinglam nen a inzawm tlat vang a ni. Tin, thluak dinglam leh veilam hemisphere inkara inthenna line, ``interhemispheric fissure,`` chu thluak hnung lamah chauh a awm bawk.

Lobar holoprosencephaly natna a ni

Hetiang chi ah hian nausen thluak hi a tam zawk chu hemisphere pahnih ah a inthen a., mahse a inthen kim lo. Hemisphere pahnih (dinglam leh veilam) awm mahse, cerebral hemisphere te hi ``frontal cortex`` ah an inzawm khawm a ni. Hei hi ``(HPE)`` nasat ber a ni .

Middle Interhemispheric (MIH) atanga lo chhuak a ni

Heng chi lian pathum bakah hian subtype palina a awm a, chu chu Middle Interhemispheric (MIH) variant tih a ni. Hei hi nausen thluak chu a laiah a inzawm khawmna hmun a ni.

Hydranencephaly leh holoprosencephaly hi eng nge an danglamna?

Heng hming pahnih hian i ti buai mai thei. Hydranencephaly leh holoprosencephaly te hi nausen thluak tibuaitu piansualna an ni ve ve a, mahse an pahnih inkarah hian danglamna a awm.

Hydranencephaly chu i naute thluak hmun thenkhat hloh a ni. Hei hi thil awm lo tak, hydrocephalus (tui lu) an tih a ni. Hetiang natna nei naute hian an lu a lian tlangpui.

Mahse, Holoprosencephaly chu embryonic stage-a thluak chu dinglam leh veilam hemisphere-a a inthen dik loh vang a ni. Chu danglamna chu i hrethiam em?

He dinhmun hian tute nge a nghawng? Engtiang chiahin nge a awm?

Holoprosencephaly (HPE) hi nausen pum chhunga nausen lo piang chhuakte a nghawng a ni. Nausen pian tirh kar hnihna leh kar thumnaah a awm tlangpui. Hei hian naupai i nih i hriat hma pawhin a tam zawk tihna a ni.

Zirchiangtute chuan holoprosencephaly hian nausen 250 zinga 1 vel chu embryonic stage hmasa (naupai kar hnihna leh kar thumnaah) a vei niin an chhut. Mahse, heng naupai tam zawk hi nau pai emaw, nau piang thi emaw-ah a tawp thin.

Chuvangin, holoprosencephaly hi nau piang nung zingah chuan thil awm lo tak a ni a, nau piang nung 16,000 zinga 1 velin a awm thin.

Holoprosencephaly (HPE) natna lan chhuah dante chu engte nge ni?

Holoprosencephaly (HPE) chi hrang hrang a awm avangin a nasat dan leh a lan chhuah dan pawh a inang lo thei hle. Chumi awmzia chu heng symptoms te hi naupang pakhatah a inang lo thei tihna a ni.

A lan chhuah dan tlangpui

HPE nena inzawm natna lan chhuah dan tlangpui chu:

• Hmasawnna lama tlai lutuk .
• Thinlung lama harsatna nei.
• Epilepsy leh seizures te a awm thei.
• Lu te tak te (microcephaly) nei.
• Lu lian tak nei (macrocephaly).
• Thluak chhunga tui awm tam lutuk (hydrocephalus).
• Hmai lam thil dik lo .
• Ha natna (entir nan, central incisor pakhat neih).
• Hmai leh/ emaw, hmui a inthen.
• Taksa lum leh vawt, heart rate leh thawk dan control harsat.
• Chaw ei harsat.

Alobar HPE ziarang hrang hrang

Hei hi a na ber chi a nih avangin a natna lan chhuah dan chu a na zawk:

• Mit pakhat neih (cyclopia), mit inhnaih lutuk (ethmocephaly), mit nei lo (anophthalmia) emaw.
• Mitmeng te tak te (microphthalmia) leh tube ang maia hnar (proboscis) nei.
• Hnar flat tak, mit hnai tak (orbital hypotelorism) emaw, hmui lai takah (median cleft lip) emaw, a sir lehlamah (bilateral cleft lip) lo awm, hmui hrual (cleft lip) emaw a awm.

Semilobar HPE te mizia te

• Mit inkar hnai tak (orbital hypotelorism), mitmeng te tak te (microphthalmia), emaw mit pakhat emaw a aia tam emaw (anophthalmia) emaw.
• Bridge leh hnar tip flattening.
• Hnar pakhat chauh a awm.
• Median cleft lip emaw bilateral cleft lip emaw a ni.
• Cleft palate a awm.

Lobar HPE ziarang hrang hrang

Hei hi a na lo ber chi a ni a, mahse heng symptoms te hi i hmu mai thei:

• Bilateral cleft hmui a awm.
• Mit chu close-up a ni.
• Hnar flat emaw sunken emaw a ni.

He natna hi holoprosencephaly an tih hi genetic syndrome hrang hrang engemaw zat zingah pawh a awm thei bawk. Heng syndrome tin hian chhinchhiahna leh chhinchhiahna danglam bik an nei vek a.

Eng thilin nge holoprosencephaly (HPE) hi a thlen?

A tlangpuiin nausen thluak hi a lo pian tirh lamah hemisphere pahnih ah a inthen thin. Holoprosencephaly (HPE) hi thluak hmalam, prosencephalon chu dinglam leh veilam hemisphere-a a inthen dik loh chuan a awm thin. Chu chu thluak hmalam veilam leh dinglam chu a inthen vek ai chuan an pahnih inkarah hian inzawmna pangngai lo tak a awm tihna a ni.

A bik takin holoprosencephaly hi hetiang hian a lo awm thei a:

• Mutations hi gene hrang hrang 14 tal ah a awm thin .
• Chromosome dik lo awm thei .
• Genetic syndrome thenkhat .

Amaherawhchu, thil tam takah chuan Doctor ten a chhan dik tak an hmu thei lo.

Genetic mutations a awm thin

Genetic mutation chu i DNA kalphung inthlak danglamna a ni. Hetiang DNA sequence hian i cell te chu an hnathawh tur atana an mamawh information a pe a ni. Chuvangin, DNA sequence thenkhat a kim lo emaw, a chhiat emaw chuan genetic condition symptoms i nei thei a ni.

Naute hian nu leh pa pakhat emaw, a pahnih emaw aṭangin genetic mutation a rochun thei a, chu chu mutation chu a inthlunzawm dan azirin a ni. Mahse, mutations thenkhat chu random takin a thleng bawk a, chu chu chhungkaw zingah tumahin mutation history an nei lo tihna a ni.

Scientist-te chuan a hnuaia gene-a mutation awmte hi he natna (HPE) nen hian an inzawm tir a:

• `SHH` tih a ni
• `SIX3` tih a ni
• `TGIF1` tih a ni
• `ZIC2` tih a ni
• `PTCH1` tih a ni
• `FOXH1` tih a ni
• `NODAL` tih a ni
• `CDON` tih a ni
• `FGF8` tih a ni
• `GLI2` tih a ni

Heng mutations te hian gene leh an siam protein te chu a thawk tha lo hle a ni. Hei hian nausen thluak hmasawnna a nghawng a, holoprosencephaly a thlen bawk.

Chromosome dik lo a awm

Kan cell-ah hian chromosome 46 kan nei vek a, pair 23-ah kan inrem a ni. Heng chromosome te hian kan DNA an keng tel a ni. A awlsam zawngin kan taksa thanlenna leh hnathawh dan tur thupekte an keng tel a ni. Kan nu hnen atangin chromosome set khat kan hmu a, kan pa hnen atangin set khat kan hmu bawk.

Holoprosencephaly vei nausen piang hmun thuma ṭhena hmun khat vel chuan chromosomal abnormality an nei a ni. HPE nena inzawm chromosomal abnormality tam ber chu chromosome 13 copy pathum awmna a ni a, chu chu trisomy 13 tia hriat a ni a, Trisomy 18 (chromosome 18 copy pathum) leh triploidy (cell pakhata chromosome pangngai 46 awm lovin 69 awm) te pawhin HPE a thlen thei bawk.

Genetic syndromes te hi a awm thei

A châng chuan holoprosencephaly hi HPE bakah damdawi lama harsatna dang thlentu genetic syndrome ṭhenkhatah a awm thei bawk.

HPE nena inzawm genetic syndrome thenkhat chu:

• `(Hartsfield natna)`
• `(Kallman syndrome pahnih)`
• `(Steinfeld natna)`
• `(Smith-Lemli-Opitz natna)`
• `(Stromme natna)`

Engtin nge holoprosencephaly (HPE) hi hmuhchhuah a nih?

Doctor-te chuan naute pian hmain holoprosencephaly (HPE), a bik takin natna khirh tak takte chu prenatal ultrasound scan hmangin an hmuchhuak thei fo. He natna hi nausen MRI (Magnetic Resonance Imaging) scan hmangin nau neih hmain hriat theih a ni bawk.

Heng nau neih hmaa imaging test te hian HPE hi a hmuchhuak thei a, mahse HPE hi naute pian hnuah hmuhchhuah a ni fo thin , chu chu hmai lama harsatna emaw, thluak lam harsatna emaw a lo lang tan thin a ni. Chumi hnuah lu chu imaging test hmangin a diagnosis tih finfiah a ni.

Naute holoprosencephaly chi hrang hrang na lo tak tak nei te chu kum khat vel an tlin hma chuan hmuhchhuah theih a ni lo. Chutiang hunah chuan hmasawnna tlai lutuk hi nervous system-ah harsatna a awm thei tih finfiahna a ni thei. Hemi hnu hian Doctor-te chuan thluak (brain imaging test) an order ang.

Diagnostic test te pawh a awm

Doctor-te chuan naute pian hnua holoprosencephaly natna hriat theihna atan a hnuaia imaging test te hi an hmang thin:

• Head ultrasound: Ultrasound (sonography an ti bawk) hi natna nei lo, noninvasive imaging test a ni a, high-frequency sound wave hmangin tissue chhungril emaw thisen kalna kawng emaw ang chi tissue live image emaw video emaw siam a ni.
• Magnetic resonance imaging (MRI) hmanga thluak scan hmanga enfiah:MRI scan pawh hi natna nei lo test a ni. I fa thluak chhunga thil awm dan leh tissue te chu chiang takin a tarlang thei a ni. MRI-ah hian magnet lian tak, radio wave leh computer hman a ni. X-ray (radiation) a hmang lo.
• Head computed tomography (CT) scan: CT scan chu X-ray leh computer hmanga taksa peng enfiah mek (he thu-ah hian i fa lu leh thluak) three-dimensional (3D) image tam tak siamna test a ni.

A theih chuan doctor-te chuan DNA study an nei ang a, chromosomal analysis, cytogenetic leh molecular test te hmangin HPE awm chhan dik tak an hre thei ang.

Genetic testing-ah holoprosencephaly nena inzawm chromosomal emaw genetic problem emaw a awm tih a hriat chuan, i doctor chuan fa dang neih i tum a nih chuan genetic counseling dil turin a rawt thei ang.

Holoprosencephaly (HPE) hi eng enkawlna nge ni?

Lungchhiatthlak takin tunah hian holoprosencephaly (HPE) natna hi damdawi leh enkawlna lian tham a la awm lo. Chu ai chuan doctor-te chuan naupang tinte chu an natna lan chhuah dan bik a zirin HPE neiin an enkawl zawk a ni. Chumi awmzia chu naupang hrang hrangah enkawlna kawng hrang hrang a inang lo tihna a ni.

He enkawlna hian specialist hrang hrang team-te thawhrimna inzawmkhawm a mamawh thei a, chung zingah chuan:

• Naupang enkawltu doctor te
• Neurologist te an ni
• Endocrinologist te an ni
• Plastic surgeon te an ni
• Occupational leh physical therapist te an ni
• Palliative care team te an ni
• Complex care team te an ni

Chutiang mite chu telh theih an ni.

Enkawlna hman tlanglawn tak tak

HPE enkawlna atana hman tlanglawn tak tak thenkhat chu hetiang hi a ni:

• Seizure venna, tihtlem leh control nana anti- seizure damdawi .
• I fain hydrocephalus a neih chuan ventriculoperitoneal (VP) shunt hmanga enkawl theih a ni.
• Damdawi leh occupational leh physical therapy hian movement disorders, muscle stiffness (spasticity) leh involuntary movements (dystonia) te a pui thei a ni.
• Plastic reconstructive surgery hmanga hmui leh hmui cleft emaw, hmai lam thil dang emaw a awm thei.
• Pituitary gland-a hormone inthlauhna enkawlna atana damdawi.
• Naupang chaw ei harsatna nei te ei leh in lama an ei leh in tur tihchangtlunna tura hmalak. Entirnan, tube hmanga pum chhunga luh (gastrostomy tube - G-tube).

Heng zawng zawng hi naupang nunphung tha ber pekna tura tih a ni.

Holoprosencephaly (HPE) hi ven theih a ni em?

Vanduaithlak takin holoprosencephaly (HPE) a awm aCase tam tak chu ven theih a ni lo. Hei hi a chhan chu "thup" inherited genetic problems avanga lo awm an nih fo vang a ni. Fa neih i tum a nih chuan i fain genetic condition emaw, inherited gene mutation, HPE ang chi emaw a neih theihna tur hriat chian nan i doctor nen genetic testing chungchang sawipui a tha ang.

Mahse, scientist-te chuan nausen pakhatin holoprosencephaly a vei theihna chance tipung thei tur risk factor thenkhat an hmuchhuak a ni. Chung zingah chuan:

• Zunthlum vei: Naupai hmaa type 1 emaw type 2 emaw diabetes i neih chuan HPE vei naute neih theihna chance a sang zawk thei. Hei hi gestational diabetes nen hian inthlau tur a ni lo va, naupai laiin a awm thin.
• Folate (folic acid) tlakchhamna: Vitamin B9 pianpui folate hi nausen hrisel taka thanlenna atan a pawimawh hle a, a bik takin thluak leh ruhroah a pawimawh hle. Naupai hma leh naupai laiin folate tlakchhamna hian HPE vei naute neih theihna a tipung thei a ni.
• Teratogens nena inzawmna: Teratogens hi nausen thanna lama harsatna thlentu leh nau piangsualna thlentu thil emaw thil emaw a ni. Chaw atanga teratogens, ethanol (zu), retinoic acid, leh mycotoxins (mold toxins) te ei hian holoprosencephaly vei naute neih theihna a tipung thei a ni.

Chuvangin nunphung hrisel zawm te, ei leh in inthlau tak ei te, naupai lai leh naupai hmaa damdawi lam thurawn zawm a pawimawh hle.

Holoprosencephaly (HPE) hi eng nge a nih?

Holoprosencephaly (HPE) vei tur thlirna, a nih loh leh prognosis chu a natna nasat dan leh a chhan bik a zirin a inang lo.

HPE hniam lam atanga na tak thleng tur thlirna hi a tlangpuiin a tha lo hle. HPE na tak nei naupang tlemte chauh hi puitling thlengin an dam thei. Naupang HPE na lo leh na lo nei te hi puitling thlengin an dam tlangpui a, mahse HPE nena inzawm damdawi lama harsatna nen an khawsa a ngai fo thin.

Naupang holoprosencephaly vei tam tak chuan nitin damdawi leh enkawlna an mamawh a, chu chu seizure venna atan leh harsatna dang enkawl nan a ni.

Dam rei zawng

Holoprosencephaly (HPE) vei dam rei zawng chu an HPE chi hrang hrang leh an natna chhan bulpuiah a innghat a ni.

Naute Alobar HPE (a na ber ber) vei te chu nau piang thi angin an thi tlangpui a, an pian hnu lawkah emaw, an dam chhung thla ruk chhungin an thi tlangpui.

Naupang semilobar emaw lobar HPE nei, leh taksa peng dang dik lo nei lo zinga 50% aia tam chu thla 12 tal an dam thei a ni.

Naupang HPE vei na lo tak takte chu puitlin thlengin an dam tlangpui.

Ka naute hian holoprosencephaly (HPE) a vei a nih chuan eng nge ka beisei ang?

Hei hi a pawimawh hle. Holoprosencephaly (HPE) vei naupang pahnih chu a inang lo tih hre reng ang che. I fain engtin nge a nghawng dawn tih chiang taka hriat theih a ni lo. Nakin hun atana inbuatsaihna atana i tih theih ṭha ber chu holoprosencephaly zirchiangtu leh enkawltu specialist-te nena inbiakna neih hi a ni. Hemi chungchangah hian thu belhchian dawl zawk an pe thei che a ni.

Engtin nge ka naute holoprosencephaly (HPE) vei hi ka enkawl ang?

Holoprosencephaly (HPE) vei i fa enkawlna pui turin, an doctor-te hnen atanga thurawn te hi zawm rawh:

• Damdawi pek zawng zawng chu a sawi angin pe thin ang che.
• Hmasawnna tehfung leh enkawlna hrang hrangte chu en rawh.
• Follow-up medical visit zawng zawngah tel vek tur a ni.

Holoprosencephaly hian hriatna, neurologic, leh/ emaw motor lama harsatna a thlen thei a ni. HPE vei naupang tam tak chuan hmasawnna lama harsatna an nei a, an dam chhungin nitin hnathawhnaah tanpuina an mamawh mai thei.

I fa medical team chuan i zawhnate chu an chhang thei a, tanpuina an pe thei bawk che. I awmna hmuna support group-te emaw, online emaw-ah pawh an hruai thei bawk. Nangmah chauh i ni lo tih hre reng ang che.

Engtikah nge ka fa doctor ka hmuh ang?

I fa chu holoprosencephaly (HPE) a vei tih hmuhchhuah a nih chuan an enkawlna a thawk tha em tih hriat chian nan leh an hmasawnna hmasawnna tehna atan an medical team te an hmuh fo a ngai dawn a ni.

I naute hian holoprosencephaly a vei tih hriat chu tuar harsa tak a ni thei. Mahse, nangmah chauh i ni lo tih hria ang che. Nang leh i chhungte tanpui nan hmanraw tam tak a awm a. Hetiang dinhmun hrechiangtu doctor nena inbiakna neih a pawimawh. Hei hian i naute chu engtin nge a nghawng dawn tih leh chutiang atana inbuatsaih dan tur hriat belh turin a pui ang che.

A tawp berah chuan thil hriat reng tur (Take-Home Message) .

Holoprosencephaly (HPE) hi piansualna (complex birth defect) a ni a, naute thluak chu nausen pum chhunga hemisphere pahnih-ah a inthen dik loh chuan a lo awm thin.

• There are different types and levels of severity , chuvangin naupang hrang hrangah symptoms a inang lo.
• Vawi tam tak chu genetic cause leh chromosomal abnormalities te a inrawlh a, mahse a chang chuan a chhan hi hmuh theih a ni lo.
• Pian hmaa ultrasound emaw MRI emaw hmanga hriat theih ni mah se, a tam zawkah chuan pian hnuah chauh hriat theih a ni.
• There is no specific cure , mahse symptoms control nan leh naupang tanpui nan enkawlna hrang hrang a awm.
• A dinhmun hi a nasat dan azirin a thlir dan a inang lo. A nasat loh chuan naupangte chu puitlin thlengin an dam thei a ni.
• Naupai emaw, naupai tum emaw i nih chuan i zunthlum control dan leh folic acid ei ang chi thilah fimkhur hle ang che.
• Hetiang dinhmunah hian nangmah chauh i awm lo. Doctor te, counselor te, leh support group te hnen atangin tanpuina i dawng thei a ni. Thu dik leh puihna hi a pawimawh hle.

` Holoprosencephaly, HPE, thluak lama harsatna, nau piangsual, nausen thanlenna, genetic disease, chromosomal abnormalities, naupai hriselna, naupang hriselna