Ama-Movie Aphakamisa Ukuqwashisa Ngezimo Ezivamile
Izifo nokugula ngokuvamile kuhloswe ngama-sappy, ama-movie ayenziwe kabi, okwenzelwe i-TV. Akusilo iqiniso ngalawa mafilimu amahlanu. Ngamanye alawa mafilimu agxila ezifweni ezingavamile nezinkinga ezihambisana nesakhiwo sefilimu; hhayi nje kuphela ama-flimsy emva kokuqeda amacebo nokuhlelwa kwamacebo.
Eminye yale mafilimu yayithandwa kakhulu phakathi kwama-moviegoers futhi imisebenzi ehlonishwa ngokujulile, kuyilapho amanye ngokuvamile enganaki umphakathi; nje blips on the radar. Noma kunjalo, ngalinye lala mafilimu kufanele libonwe. Baqinisekile ukuthi bashintshe umbono wakho ube ngcono endleleni obuka ngayo futhi uxoxe ngezifo ezinzima ezingaziwayo, kodwa ezingaziwayo, ezingavamile.
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Indoda Indlovu (1980)"Indlovu Indoda" ifilimu ye-1980 ehambisana noJohn Hurt, u-Anthony Hopkins, u-Anne Bancroft noJohn Gielgud. Cishe cishe wonke umuntu obonile ukuthi le movie uyayithanda, lapho uJohn Hurt eveza uJoseph Merrick, owaziwa ngokuthi "iNdlovu" ngenxa yemiphumela ephazamisayo yalokho okwenzeka cishe iProteus syndrome . Ukukhubazeka kukaMerrick kwamenza waba ngumuntu ongasebenzi. Usizi lukhanya njengoba eveza umuntu ohlakaniphile, ozwelayo ngemuva kwe-mask.
Ekuqaleni, bekungacabangi bacabanga ukuthi indlovu ihlushwa i- neurofibromatosis , isimo lapho izikhumba zikhula khona emasongweni omzimba. Indoda yendlovu, ngokuphambene, yayingenayo indawo ebomvu ye-neurofibromatosis, futhi esikhundleni salokho, izifundo ze-x-ray ne-CT zikaMerrick ezenza ngo-1996 zambonisa ukuthi izicubu zakhe zakhula zivela emathambo nasesikhumba, okuphawulekayo kwe-Proteus syndrome.
Inothi yilapho uMerrick ahlala khona kusukela ngo-1862 kuya ku-1890, kepha ukukhubazeka kweProteus akuzange kubonakale kuze kube ngo-1979. Kungenzeka ukuthi kunezinkinga ezingavamile ezikhona namuhla ezizobonakala futhi ziqondwe ngokuzayo esikhathini esizayo.
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Amafutha ka-Lorenzo (1992)Ifilimu ka-1992 "Izinkanyezi zika-Lorenzo" ze-Hollywood ezinamandla ze-Hollywood ezisindayo uSusan Sarandon noNick Nolte. "Amafutha ka-Lorenzo" atjela indaba yabazali u-Augusto nomzabalazo kaMichella Odone ukuthola ukwelashwa kwengane yabo i- adrenoleukodystrophy (ALD), isifo esibulalayo sezofuzo. Ama-movie anikezela ukuveza okuthinta inhliziyo nokucindezeleka kwalesi sifo esiqhubekayo sezinzwa, kodwa kukhona ukungalungi okunye. Noma kunjalo, uzojabula ngempumelelo yomndeni.
I-Adrenoleukodystrophy iyisifo esiyifa, esizuzwe ngefomu elizenzekelayo le-autosomal elixhunyaniswe ne-X chromosome. Ngakho-ke, le disorder kwenzeka kuphela kubafana. (Funda kabanzi mayelana namaphetheni wefa ezinkingeni zofuzo .)
Lesi sifo siphuthuka, okubandakanya ukuwohloka kwe-myelin, okufana nezinye izifo ezifana ne- multiple sclerosis . I-Myelin yenza njengendlela yokugqoka phezu kwentambo kagesi, futhi uma lokhu "ukugqoka" kubhujiswa, ukusabalala kolwazi kuwo wonke amazinyo kuncipha.
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I-Tic Code (1998)"I-Tic Code" izinkanyezi uChristopher Marquette, uGregory Hines noPolly Draper. Umfana oneminyaka engu-10 (uMarquette) nomdlali we-saxophone (Hins) bahlangana futhi bathola bobabili babe ne-Tourette syndrome. Nokho, ngamunye usebenzelana nayo ngendlela yakhe. Umfana uguqule ama-tics akhe, kodwa indoda endala izama ukuyifihla futhi igxeke isimo sengqondo sokwamukela umfana.
Kunezindlela eziningana lapho lezi zakhi zenzeka khona, kodwa indlela evame ukuboniswa ngayo emithonjeni-ngamazwi ahlambalaza kanye nokuzithokozisa-empeleni akuvamile kakhulu.
Ngokujabulisayo kukhona manje izinamba zokwelapha ezitholakalayo ezingasiza labo bantu-abavame ukubhekana noTourette ngesikhathi sokukhula kokuqala.
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I-Mighty (1998)"I-Mighty" yifilimu ehle kakhulu okungenzeka ungakaze uyizwe, ekhuluma noSharon Stone, Gena Rowlands, noHarry Dean Stanton. U-Kevin uneminyaka engu-13 eneminyaka engu-13 ubudala onomzimba we-Morquio syndrome, isifo esiqhubekayo, noMax, ingane ehamba kancane enengqondo ephansi-uzizwa sengathi ubheka "njenge-Godzilla" -ukuthi i-dyslexia. Laba bobabili babe ubungane obungenakwenzeka lapho uKevin eba uMfundisi wokufunda uMax.
I-Morquio syndrome izuzwe ngefayela le-autosomal ngokweqile libhekwa njengenye ye-mucopolysaccaridoses (i-MPS), izifo ezibangelwa ukungabi khona kwama-enzyme adingekayo ekusetshenzisweni komzimba okuvamile. I-Morquio syndrome ibhekwa njenge-MPS IV, kanti i- Hurler syndrome lapho abantu abangabajwayele ibhekwa njenge-MPS I noma II. Lesi sifo sinezici eziningi ezivela ezintweni eziphucukisayo zethambo nezokuhlanganyela, izinhliziyo ezikhubazekayo, ukuphazamiseka kwe-corneal, nokuningi.
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Injabulo Eyisithupha (1997)Le filimu ye-1997 ethi "Injabulo Yesithupha" ebhekene neFirdaus Kanga noSouad Faress bakhululwa e-United Kingdom. Isekelwe kumlando we-Kanga, obizwa ngokuthi "Ukuzama Ukukhula." Kanga empeleni udlala ngokwakhe kuleli filimu. Le filimu ilandisa indaba yomfana ogama lakhe linguBrith okhulayo eNdiya. Uzelwe ngesifo esenza amathambo akhe aphephe futhi angalokothi akhule amade kunamamitha amane. UBrith ungumlingiswa othakazelisayo, othakazelisayo, futhi oweqiniso obhekana nokuhlukunyezwa kwakhe ngokobulili nezinkinga zokuphila ngendlela yakhe eyingqayizivele, kodwa abazali bakhe banezimo ezihlukile kakhulu eziphathelene nokukhubazeka kwakhe.
Ngesikhathi le movie ingaqokomisi isifo esithile esingajwayelekile (nakuba ihambisana ne-osteogenesis imperfecta ngezindlela eziningi) ingasiza ekuqwashiseni ngezifo eziningana ezingavamile nezivamile ezingabandakanya amathambo angamahloni kanye nesifo esincane.
I-Osteogenesis imperfecta yilesi sifo esiye sakhiwa "isifo se-bone esibulalayo." Lesi sifo sibangelwa isici ngohlobo lwe-collagen elitholakala emathanjeni, ligaments, neliso, futhi ngokuvamile liholela emathanjeni amaningi aphukile ngaphezu kwesiqu esifushane. Kunezinhlobonhlobo ezihlukahlukene zesifo, ngokuqina kunomehluko nakakhulu nalabo abanesimo esifanayo sesifo. Ngokujabulisayo, intuthuko yakamuva yokwelashwa, njengalezo ezidakamizwa ze-osteoporosis, iyasiza ekuthuthukiseni izimpilo zabanye balaba bantu.
Isiqu esifushane sibhekwa njengento encane uma ukuphakama kwabantu abadala kungamasentimitha angu-10 noma ngaphansi futhi kunezimbangela eziningi.
Ngaphandle kwama-movie azwakalisa izifo ezingavamile, abantu abanezinye zezimo baye basebenzisa isimo sabo ngendlela evelele yeskrini sesiliva. Isibonelo nguJohn Ryan Evans , umlingisi onomculo we-achondroplasia, nendima yakhe emikhiqizweni eminingi kuhlanganise nokuthi i-Grinch ibeke kanjani uKhisimusi .
Imithombo:
Ilabhulali Kazwelonke Yezokwelapha yase-US. I-Morquio Syndrome. Kubuyekezwe 04/20/1. https://medlineplus.gov/ency/article/001206.htm
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