Wake waphawula ukuthi abanye abantu bayaqhubeka nokopha ngisho nasenxebeni elincane? Noma wake waphawula ukuthi ngaphandle kwesizathu, izingxenye zomzimba wakho ziphenduka zibe luhlaza okwesibhakabhaka futhi zibe nemivimbo yegazi? Esinye sezizathu zalezi zinto kungaba yisimo esizokhuluma ngaso namuhla esibizwa ngokuthi i-Hemophilia B. Ungakhathazeki, sizokhuluma ngalokhu ngendlela elula ongayiqonda.
Kuyini i-Hemophilia B?
Kalula nje, i-hemophilia B isifo sokopha esizuzwa njengefa. Kwenzeka lapho kukhona ukuguquka kwezakhi zofuzo okusiza ukujiya kwegazi. Abantu abane-hemophilia B banamazinga aphansi e-factor IX (eyaziwa nangokuthi i-factor 9, F9, FIX), iphrotheni ebalulekile esiza ukujiya kwegazi. Uma ingelashwa, lesi simo singasongela impilo. Izindaba ezinhle ukuthi odokotela bayayelapha ngokufaka esikhundleni se-factor 9. Izindlela zokwelapha ezintsha, njengokwelashwa kwezakhi zofuzo, nazo ziyaphenywa.
Lesi simo sithinta kanjani umzimba wakho?
Njengezinye izinhlobo ze-hemophilia, abantu abane-hemophilia B baphuma igazi kakhulu futhi isikhathi eside kunokujwayelekile uma belimele, behlinzwa, noma bekhishwa amazinyo. Lesi simo sithinta kakhulu amadoda, kodwa singathinta nabesifazane.
Odokotela bahlukanisa i-hemophilia njengelula , eliphakathi nendawo, nelinzima kakhulu . Abantu abane-hemophilia B enzima bangopha igazi emalungeni abo. Lokhu kubuhlungu kakhulu, futhi ngokuhamba kwesikhathi, kungaholela ezimweni ezifana ne-arthritis. Abanye abantu badinga ukuhlinzwa ukuze kususwe amalunga alimele futhi afakwe endaweni yawo. Bangopha igazi nasebuchosheni babo, okungaba yingozi empilweni.
Ivame kangakanani i-hemophilia B?
Ngokwezibalo e-United States, cishe amadoda angu-4 kwangu-100,000 ane-hemophilia B. Abesifazane nabo bayayithola, kodwa kunzima ukusho ukuthi bangaki ngqo. Ngoba yize benezimpawu ezifana nokuya esikhathini kakhulu, abantu abaningi abacabangi ukuthi ihlobene ne-hemophilia.
Uyazi ukuthi umehluko uyini phakathi kwe-hemophilia A ne-B?
I-Hemophilia A kanye ne-B zombili ziyizifo zokopha ezizuzwe njengefa. Nakuba izimpawu zifana kakhulu, ukuguquka kwezakhi zofuzo okuzibangelayo kuhlukile. Ucwaningo lubonise ukuthi izimpawu ze-hemophilia B zingase zibe zimbi kancane kuneze-hemophilia A. Lokhu kusho ukuthi i-hemophilia B nayo iyisimo esibi kakhulu, kodwa abantu abanaso bangase babe nezinkinga ezimbalwa zokopha ngokweqile. Nazi ezinye umehluko:
- Izifundo zibonisa ukuthi abantu abane-hemophilia B banokopha okuncane emalungeni (ama-hemathrose) kanye nomonakalo omncane emalungeni.
- Ukopha okuzenzekelayo akuvamile kubantu abane-hemophilia B.
- Ngezinye izikhathi, ngesikhathi sokwelashwa kwe-hemophilia, umzimba ukhiqiza amasosha omzimba aphazamisa ukwelashwa. Kodwa-ke, abantu abane-hemophilia B banamathuba amancane okuba nalezi zinkinga.
Kungani lokhu kwakubizwa ngokuthi 'isifo sikaKhisimusi' ngaphambilini?
Lena indaba ethakazelisayo kakhulu. Sekuyiminyaka engaphezu kwe-100 odokotela becabanga ukuthi kukhona uhlobo olulodwa lwe-hemophilia. Kodwa ngo-1952, umcwaningi wasebenzisa i-plasma yegazi evela kubantu abayisikhombisa abane-hemophilia (omunye ogama lakhe lingu-'Christmas') ukwelapha abanye abantu abane-hemophilia. Ngokumangalisayo, ukwelashwa kwasebenza! Yilapho-ke abacwaningi baqaphela khona ukuthi uMnu. Christmas wayenohlobo oluhlukile lwe-hemophilia, okungukuthi, lwalubangelwa ukushintshashintsha kwezakhi zofuzo okuhlukile. Ngakho babiza lolu hlobo lwesibili lwe-hemophilia ngokuthi 'i-Christmas factor' noma 'isifo sikaKhisimusi'. Kamuva lwabizwa ngokuthi i-hemophilia B.
Yini ebangela i-hemophilia B?
Njengoba kushiwo ngaphambili, i-hemophilia B iyisifo sokopha kwegazi esibangelwa izakhi zofuzo. Uma une-hemophilia B, kusho ukuthi uzuze isakhi sofuzo esingajwayelekile esithinta inani le-factor 9. Ngokuvamile, kukhona isakhi sofuzo esibizwa ngokuthi i-F9, esikutshela ukuthi ungasenza kanjani i-factor 9. I-Hemophilia B yenzeka lapho lesi sakhi sofuzo se-F9 sishintshashintsha, sidala isakhi sofuzo esingajwayelekile esinciphisa izinga le-factor 9, noma siqede ngokuphelele i-factor 9. Ngokuvamile, abafana bathola i-hemophilia B uma omama babo bengabathwali balesi sifo.
Nakhu ukuthi kwenzeka kanjani:
- Sonke sithola ama-chromosome amabili e-X kumama wethu, i-chromosome eyodwa ye-X kanye ne-chromosome eyodwa ye-Y kubaba wethu.
- Uma owesifazane ene-gene ye-F9 engajwayelekile kwenye yama-chromosome akhe e-X, uzoba ngumthwali we-hemophilia B, kodwa ngeke abonise izimpawu. Lokhu kungenxa yokuthi une-gene ye-F9 evamile kwenye i-chromosome yakhe ye-X.
- Lo wesifazane angadlulisela i-chromosome X ene-gene F9 engavamile endodaneni yakhe. Njengoba amadodana ene-chromosome X eyodwa kuphela, azoba ne-hemophilia B.
Ngezinye izikhathi, ukuguquka okuzenzakalelayo akuzuzwa njengefa kumama kuya endodaneni.I-Hemophilia B ingabangelwa futhi yinqubo ebizwa ngokuthi i-involution. Lokhu kwenzeka lapho iqanda nesidoda kuhlangana ukuze kwakhiwe umbungu, obe usuhlukana bese uqala ukukhiqiza amaseli amasha. Lawa maseli amasha aphethe amakhophi ezakhi zofuzo ezazisesiseleni sokuqala. Ngakho-ke, ngezinye izikhathi amaphutha, noma izinguquko, kungenzeka lapho lawa ma-gene ekopishwa. Uma kwenzeka iphutha lapho i-gene ye-F9 ikopishwa, ingane yakho ingase ibe ne-hemophilia B noma ibe ngumthwali we-hemophilia B. (Ababhali-mlando nabacwaningi bezokwelapha bakholelwa ukuthi lokhu kwenzeka eNdlovukazini uVictoria waseNgilandi. Nakuba kungekho muntu emndenini wakhe owayene-hemophilia, wayene-hemophilia. Wadlulisela lesi sifo kubantwana bakhe. Lapho labo bantwana beshada emindenini yasebukhosini yaseSpain naseRussia, izingane zabo nazo zathola lesi sifo. Kamuva satholakala ngokuthi i-hemophilia B.)
Ziyini izimpawu ze-hemophilia B?
Sesivele sishilo ukuthi izimpawu ze-hemophilia B zihlukaniswa njengezincane, eziphakathi nendawo, nezinzima. Odokotela bahlukanisa lezi zimpawu ngokusekelwe emazingeni e-factor 9 egazini.
I-hemophilia B encane
Abantu abanamazinga angu-9 aphakathi kuka-6% no-49% bane-hemophilia B encane. Izimpawu zincane. Ngezinye izikhathi, abantu abane-hemophilia B encane batholakala sebebadala, lapho belungiselela ukuhlinzwa, lapho sebezozala umntwana, ngemva kokulimala okukhulu, noma, esimweni sabesifazane, lapho belashwa ukopha okukhulu kokuya esikhathini.
I-hemophilia B ephakathi nendawo
Abantu abanamazinga angu-9 aphakathi kuka-1% no-5% bane-hemophilia B encane. Izimpawu nazo zincane. Izingane ezinalesi simo zivame ukuqala ukukhombisa izimpawu cishe ezinyangeni ezingu-18 ubudala.
Lezi zingane zingase zibe nezimpawu ezifana nalezi:
- Imivimbo: Ziyaphuka futhi ziqhume kalula.
- Ukopha okungavamile: Uma uhlinzwa, unesilonda esopha igazi, noma ukhishwa izinyo, ungase wophe igazi eliningi futhi isikhathi eside kunokujwayelekile.
- Ukopha okuzenzekelayo: Akuvamile ukuthi ukopha kuqale ngaphandle kwesizathu esibonakalayo.
I-hemophilia B embi kakhulu
Abantu abanamazinga angu-9 angaphansi kuka-1% bane-hemophilia B embi kakhulu. Izimpawu zinzima kakhulu. Ezinye izingane zingase ziqale ukopha lapho zizalwa, ngokushesha ngemva kokuzalwa, noma ngemva kokusoka. Ezinye izingane zingase zingabonisi izimpawu kuze kube izinyanga ezimbalwa ngemva kokuzalwa. Izimpawu ezivamile zifaka:
- Ukopha: Izinsana ezincane kanye nezingane ezincane zingase ziphume igazi emlonyeni wazo uma into encane, njengethoyizi, ingena emlonyeni wazo.
- Amaqhubu avuvukele emakhanda abo: Uma ingane encane ishaya ikhanda layo ndawana thize, ingaba namaqhubu abukeka njengamaqanda e-goose.
- Ukukhala njalo, ukungahlaliseki, noma ukwenqaba ukukhasa noma ukuhamba:Lokhu kungenzeka uma ingane inokopha emisipheni noma emalungeni emzimbeni wayo. Ingase ibukeke iluhlaza okwesibhakabhaka futhi ivuvukele kwezinye izindawo. Ingase izwe ishisa uma ithintwa futhi ingane ingase ibe nobuhlungu.
- Ama-Hematoma: I-hematoma iyi-blood clot eqoqana ngaphansi kwesikhumba. Ingane ingaba ne-hematoma ngemva kokujova.
- Ubunzima bokuphefumula: Ngezinye izikhathi, ulimi lwengane lungavuvukala ngenxa yokopha futhi luvale indlela yokuphefumula.
Odokotela bakubona kanjani lokhu?
Odokotela baxilonga i-hemophilia B ngokwenza ukuhlolwa ngokomzimba, bebheka izimpawu ezifana nokulunywa nokuvuvukala kwamalunga, bese bebuza ukuthi kukhona yini emndenini one-hemophilia noma ezinye izifo zegazi.
Ngaphezu kwalokho, kwenziwa izivivinyo ezilandelayo:
- Ukubalwa Kwegazi Okuphelele (i-CBC): Lokhu kuhlola izinhlobo zamaseli egazini kanye nezinombolo zawo.
- Ukuhlolwa Kwesikhathi Se-Prothrombin (PT): Lokhu kuhlola ukuthi igazi lakho liqina ngokushesha kangakanani.
- Ukuhlolwa Kwesikhathi Se-Activated Partial Thromboplastin: Lokhu futhi ukuhlolwa okukala ukuthi kuthatha isikhathi esingakanani ukuthi kwakheke ihlule legazi.
- Ukuhlolwa kwe-Fibrinogen: Ukuhlolwa okulinganisa inani leprotheni ebizwa ngokuthi i-fibrinogen, esiza ukujiya kwegazi.
- Ukuhlolwa kwesici sokuqunjelwa: Yilokhu okusiza ekunqumeni uhlobo oluqondile lwe-hemophilia kanye nobunzima besifo.
Yiziphi izindlela zokwelapha lokhu?
Odokotela bavame ukwelapha i-hemophilia B ngokwelashwa kokushintshana kwezinto . Lokhu kuhilela ukufaka i-concentrated factor 9 emthanjeni. Le concentrated factor 9 isebenza ukufaka esikhundleni se-due factor engekho, isiza ekuvimbeleni ukopha ngokweqile noma ekulawuleni ukopha uma kwenzeka.
Ngokuvamile, abantu abane-hemophilia B encane kuya kwephakathi badinga lokhu kwelashwa kuphela uma kufanele benze okuthile okufana nokuhlinzwa. Kodwa-ke, abantu abane-hemophilia B enzima bangadinga ukwelashwa kokushintshana kwezinto njalo.
Ingabe zikhona izinkinga ezingase zenzeke ngesikhathi sokwelashwa?
Ezinye izinkinga zingaba khona kubantu abasebenzisa lolu hlobo lokwelashwa. Eziyinhloko ukuthuthukiswa kwemithi yokuvimbela kanye nokutheleleka ngegciwane .
Izithibi
Ama-inhibitor akhula lapho umzimba uyeka ukwamukela ukufakelwa kwe-factor njengengxenye yegazi lawo elijwayelekile. Lawa ma-inhibitor avimbela ukwelashwa kokufakwa kwe-factor ukuthi kusebenze kahle. Lokhu kwenza kube nzima kakhulu ukuyeka noma ukunciphisa ukopha. Abantu abanezinkinga ezinkulu zokopha abathola imithamo ephezulu yokwelashwa kwe-factor banamathuba amaningi okuthola le nkinga. Odokotela balapha lokhu ngokusebenzisa ezinye izinto ezingaqeda ukujiya kwegazi ngaphandle kokudlula i-factor 9.
Ukutheleleka ngegciwane
Akuvamile ukuthi izifo ezibangelwa amagciwane njenge-hepatitis C zivele lapho kusetshenziswa izinto ezithatha indawo ye-factor, ezenziwe ngegazi elinikelwe. Kodwa-ke, ngezindlela zokuhlola zamanje, le ngozi iphansi kakhulu.
Ingabe ingozi yokuthi lokhu kwenzeke ingancishiswa?
Ngenxa yokuthi i-hemophilia B iyisifo esizuzwe njengefa, awukwazi ukuyivimbela ukuthi ingakhuli noma idlulisele ezinganeni zakho. Ake sifunde okwengeziwe ngenqubo yofuzo ezuzwa ngayo:
- Uma ungowesifazane futhi une-F9 gene engavamile kwenye yama-chromosome akho e-X (okusho ukuthi ungumthwali), izingane zakho zesilisa zinethuba elingu-50% lokuthola i-hemophilia B, kanti izingane zakho zesifazane zinethuba elingu-50% lokuba ngabathwali.
- Amadodakazi akho, azuza lesi sakhi sofuzo njengefa, angadlulisela i-hemophilia B emadodaneni awo. Amadodakazi awo angaba ngabathwali balesi sifo.
- Amadodana akho ane-hemophilia B angadlulisela le chromosome emadodakazini awo.
- Uma uyindoda futhi une-hemophilia B, amadodana akho ngeke abe nalesi sifo. Kodwa wonke amadodakazi akho azoba ngabathwali be-chromosome ene-gene ye-F9 engavamile.
Ukwelulekwa ngokwezakhi zofuzo kubaluleke kakhulu kulesi simo. Uma wena noma othile emndenini wakho ene-hemophilia, kuwumqondo omuhle ukuhlangana nomeluleki wezakhi zofuzo ngaphambi kokuba nomntwana.
Uma ngikhulelwe, ngingathola yini kusenesikhathi ukuthi ingane yami inalesi simo?
Yebo, ungakwazi. Odokotela bangathatha isampula yegazi elivela entanjeni yakho bese beyihlola ukuze babone ukuthi inezici zokujiya kwegazi. Ngaleyo ndlela, wena nabo ningazi kusengaphambili ukuthi yini okufanele niyilindele uma nithola umntwana wakho nokuthi yini okufanele niyenze ukuze nivimbele izinkinga zokopha.
Uma ngine-hemophilia B, yini okufanele ngiyilindele?
I-Hemophilia B iyisifo esingamahlalakhona. Odokotela abakwazi ukuyelapha ngokuphelele. Kodwa-ke, kunezindlela zokwelapha ezingavimbela noma zinciphise ubuhlungu obukhulu bamalunga nezinye izinkinga zezokwelapha. Iningi labantu abane-hemophilia B lingagcina impilo enhle ngokwelashwa.
Abantu abane-hemophilia B enzima badinga ukuthola imijovo ejwayelekile yokushintsha izinto (i-infusions noma imijovo) ukuze belaphe izinkinga zokopha. Bangase baye kudokotela ukuze bathole ukwelashwa, babe nelungu lomndeni noma umnakekeli abanikeze umjovo, noma bangase bakwazi ukuwujova bona ngokwabo. Kodwa-ke, abantu abane-hemophilia B enzima badinga ukwelashwa njalo ukuze bavimbele ukopha ngokweqile.
Bangase futhi babe nezinye izimo zezokwelapha ezithinta impilo yabo iyonke kanye nempilo yabo yonke. Isibonelo, abantu abaningi abane-hemophilia B banezinkinga ezinkulu ngamadolo noma izinqe zabo, ezidinga ukuhlinzwa ukuze kususwe amalunga alimele bese kufakwa amasha esikhundleni sawo. Uma une-hemophilia B, buza udokotela wakho ukuthi yini ongayilindela. Ungumuntu ongcono kakhulu ukukunikeza ulwazi olungcono kakhulu ngoba uyazi isimo sakho kanye nempilo yakho iyonke.
Yini okufanele ngiyazi uma ingane yami inalesi simo?
Uma ingane yakho ine-hemophilia B encane noma ephakathi, kubalulekile ukwazisa udokotela wakho ngalesi simo ukuze akwazi ukuvimbela ukopha ngokweqile uma ingane yakho ihlinzwa noma ikhishwa izinyo. Nazi ezinye iziphakamiso. Udokotela wakho angase abe nezinye iziphakamiso:
- Uma izingane zakho zisencane kakhulu, hlola ukuthi izihlalo zazo eziphakeme nezihlalo zezimoto zinamabhande okuphepha afanele.
- Uma sebekhulile kancane futhi bedlala nezinye izingane, abanakekeli babo kanye nothisha besikole kudingeka bazi ukuthi benzeni uma ingane ilimala ngengozi bese iqala ukopha.
- Ingane yakho kuzodingeka igweme imisebenzi ethile, njengemidlalo ehilela ukuthintana kanzima nabanye noma amathuba okuwa.
Kuthiwani uma ingane yami ine-hemophilia B embi kakhulu?
Izingane ezine-hemophilia B enzima zizodinga ukwelashwa impilo yazo yonke - ukuvimbela noma ukunciphisa ukopha, noma ukuphatha izimpawu. Nazi ezinye zezinselele ongase ubhekane nazo, kanye neziphakamiso ezithile ezingasiza:
- Izingane ezine-hemophilia B, lapho zifunda ukuhamba, zingaqala ukopha uma ziqhuma noma ziwe. Akunakwenzeka ukuvimbela konke ukuwa, kodwa kungumqondo omuhle ukubeka izembozo zokuzivikela emakhoneni abukhali efenisha ekhaya.
- Njengoba ingane yakho ikhula futhi iqala ukugijima nokugxuma, khuluma nodokotela wakho ngezimpahla zokuphepha njengezigqoko zokuzivikela kanye nama-knee pad. Eqinisweni, zonke izingane kufanele zigqoke isigqoko sokuzivikela uma zigibela ibhayisikili. Ingane yakho ingadinga ukuvikelwa okwengeziwe ukuze igweme ukushayisana okungase kubangele ukopha.
- Ingane yakho kuzodingeka ithole ukunakekelwa kwezokwelapha njalo ukuze imise ukuphuma kwegazi. Ingase ithukuthele futhi ikhungatheke ngokungakwazi ukuchitha isikhathi nabangani bayo kanye nokulahlekelwa umsebenzi wesikole lapho kufanele iye kokwelashwa.
- Ingane ene-hemophilia iyazi ukuthi othisha bayo nabanye bayazi ngesimo sayo. Ingase ingakhululeki lapho othisha nabanye esikoleni bezama ukuyisiza kodwa bayiphathe ngendlela ehlukile.
- Izingane ezindala kanye nentsha zingadinga usizo lokubhekana nemizwa yazo kanye nokubhekana nokusabela kwabanye. Uma ingane yakho isesimweni esifanayo, khuluma nodokotela wakho ngezinhlelo noma amaqembu okusekela intsha.
Nginesifo se-hemophilia B. Ngingazinakekela kanjani?
Ukuphila ne-hemophilia B kusho ukuthatha izinyathelo ezengeziwe zokuvikela impilo yakho iyonke, ngenkathi unakekela ukwelashwa kwakho. Nazi ezinye iziphakamiso:
- Zivikele ezifweni: Buza udokotela wakho ukuthi yimiphi imijovo efanele wena.
- Gcina isisindo esinempilo: Uma unenkinga yokuhambahamba ngenxa yokopha kwangaphakathi kanye nomonakalo wamalunga, ukulawula isisindo sakho kungasiza.
- Qala inqubo yokuzivocavoca: Ungase wesabe ukulimala ngenkathi uzivocavoca. Khuluma nodokotela wakho ngezindlela zokunciphisa ingozi yokopha ngenkathi usebenza.
- Lawula ukucindezeleka kwakho: I-Hemophilia B iyisimo esihlala isikhathi eside. Kungathatha umzamo owengeziwe ukuyilinganisela nemithwalo yemfanelo yomndeni wakho kanye nomsebenzi.
- Gwema imithi ethile yokubulala izinhlungu: Uma une-hemophilia B, akufanele uthathe i-aspirin noma i-ibuprofen. Lawa maphilisi okubulala izinhlungu aphazamisa ukujiya kwegazi.
Kufanele ubonane nodokotela wakho ukuze uthole ukwelashwa okuhleliwe futhi noma nini lapho unezinye izimpawu, njengokuphuma kwegazi okungavamile noma ubuhlungu obukhulu bamalunga.
Kunini lapho kudingeka uye khona ukuthola ukwelashwa okuphuthumayo?
Uma ulimele ekhanda , kufanele ufune usizo lwezokwelapha ngokushesha. Lezi zimpawu zingase zibonise ukuthi unokopha okungena ebuchosheni bakho (i-intracranial hemorrhage):
- Ikhanda elibuhlungu.
- Ubuthakathaka.
- Isicanucanu nokuhlanza.
- Ukuba ndikindiki noma ukukhubazeka.
Uma ungakwazi ukuyeka ukopha kunoma yiluphi uhlobo lwesilonda, noma uma uqala ukopha ngaphandle kwesizathu, bona udokotela wakho noma uye ekamelweni eliphuthumayo ngokushesha.
Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)
I-Hemophilia B ingenye indlela engavamile yesifo esingavamile. Njenge-hemophilia A, i-hemophilia B isifo sokopha esizuzwe njengefa. Nakuba izifundo zibonisa ukuthi abantu abane-hemophilia B bangase babe nezimpawu ezingezimbi kangako kunalabo abane-hemophilia A, i-hemophilia B iseyisimo esibangela izinselele eziningi zezokwelapha, zendlela yokuphila nezengqondo.
Abesifazane abaphethe lesi simo bangase bakhathazeke ngokuthi izingane zabo zizosizuza njengefa. Abazali bengane ene-hemophilia B bangase bakhathazeke ngokuvikela ingane yabo ekulimaleni ngengozi. Kamuva, kungase kudingeke basize ingane yabo ekhulayo ifunde ukuphila ne-hemophilia B. Abantu abane-hemophilia B enzima bangadinga ukwelashwa impilo yonke ukuze bavimbele ukopha ngokweqile.
Kodwa kukhona ithemba! Abacwaningi baphenya izindlela ezintsha zokwelapha, njengokushintsha izakhi zofuzo kanye nokwelashwa ngezakhi zofuzo. Lokhu kungenza umehluko omkhulu endleleni ephathwa ngayo i-hemophilia B enzima. Uma wena noma ingane yakho inalesi simo, buza udokotela wakho ngezivivinyo zemitholampilo ezingase zikufanele. Khumbula, ngeseluleko sezokwelapha esifanele kanye nokwelashwa, ungaphila impilo ephumelelayo nenempilo nge-hemophilia B.
I- Hemophilia B, ukopha kwegazi, izifo zofuzo, ukujiya kwegazi, i-Factor IX, izifo ezizuzwe njengefa, isifo sikaKhisimusi











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