El skeleton yi-scaffolding yangaphakathi ye- umzimba womuntu, isakhiwo esisekela umzimba wethu, sisekela ukunyakaza kwawo futhi siqinisekisa ukuvikelwa kwezitho zangaphakathi.
Kodwa ngokunembile lesi sikafula samathambo singaba a yezinyoni lokho kuphoqelela ukunganyakazi futhi kucindezele zona kanye izitho okufanele zizivikele. Lesi isiphetho seziguli ezihlushwa esinye sezifo zofuzo eziyivelakancane nezilimaza kakhulu ezaziwayo namuhla: I-Fibrodysplasia Ossificans Progressiva (FOP) noma i-stone man syndrome.
Abantu abathintekayo yile syndrome babhekana nokushintshashintsha kweqiniso, ngenxa yokwakheka kwezicubu zethambo ezindaweni zomzimba lapho kungafanele kube khona. Kulinganiselwa ukuthi babalelwa ku-2500 abantu emhlabeni wonke abathintwe yi-FOP, noma oyedwa kwabangu-2 million.
UHarry Raymond Eastlack kwakuyicala elibi kakhulu le-stone man syndrome yekhulu lama-XNUMX. Kodwa-ke, i-Eastlack ayikhunjulwa nje kuphela "indoda yetshe", kodwa futhi ngokuba negalelo elikhulu ocwaningweni ngalesi sifo.
UHarry Raymond Eastlack: I-FOP's Debut
Kwakungo-1933 lapho uHarry Raymond Eastlack ezalwa ePhiladelphia. Yethulwa kubazali bayo njengengane enempilo enhle kakhulu, ngaphandle kweyodwa ukonakala kozwane olukhulu lonyawo lwesokudla . Nokho, odokotela abafaki ukubaluleka okukhethekile kukho. UHarry wakhula enempilo, echitha ubuntwana obukhuthele nobungenandaba phakathi kokuthanda umculo nebhola. Kodwa lapho ngineminyaka engu-5, inkambo yokuphila kukaHarry ishintsha unomphela.
Ntambama evamile yasentwasahlobo, uHarry udlala emgwaqweni nodadewabo u-Helene, lapho imoto iphaphalaza futhi imshayisa. Naphezu kokwethuka kokuqala, ingozi ijika ibe nzima kakhulu: uHarry uyaphuka i-femur yesokunxele, obese efakwa ukhonkolo okumphoqa ukuba anciphise ubungqabavu bakhe okwesikhashana.
Kepha empeleni ukuhlukumezeka kunemiphumela emibi kakhulu kuHarry. Imiphumela yokuthi, ekuqaleni ithule, iqala ukubonakala lapho ukhonkolo selususiwe. Umlenze uyavela, empeleni, evuvuke kabuhlungu, evuvukele futhi uHarry uthola ukuthi akakwazi unyakazise izinqe namadolo. Ku-ER, odokotela basola izimpawu ezinjalo ezingavamile zokuphuka kwethambo kuphela. UHarry ube esehlolwa i-X-ray.
Imiphumela ephonswe yi-X-ray iyaphazamisa: umsipha wethanga wengane ushintshiwe ingxenye yaba izicubu zethambo. Kuwukutholakala okungenangqondo kangangokuthi kushiya odokotela bedidekile, okuthatha unyaka ukwenza a ukuxilongwaEqinisweni, kwakungo-1938, unyaka ngemva kwengozi, lapho umndeni wase-Eastlack waqala ukuzwa nge-myositis ossificans progressiva, manje eyaziwa ngokuthi i-fibrodysplasia ossificans progressiva.
FOP umlando
I-stone man syndrome sekungamakhulu eminyaka ingenye yezimfihlakalo zezokwelapha ezingaqondakali, a isifo esingenagama noma incazelo. Isimo esingavamile kakhulu kodwa esishaqisayo endleleni kanye nobukhulu baso, incazelo yokuqala enemininingwane ye-FOP ihlehlela emuva eminyakeni engaphezu kwengu-250. Encwadini ayibhalela iRoyal Society of Medicine yango-Ephreli 14, 1736, uJohn Freke ubika ukuthi icala lomfana oneminyaka eyishumi nane ukuthi wayefuna ikhambi lesifo esasimphathe kabi iminyaka engaphezu kwemithathu. Kuwo wonke amathambo entamo yakhe nasombanjeni ngalunye lomzimba wakhe, kwaqubuka ukuvuvukala okukhulu okudlulela kuzo zonke izingxenye zomhlane wakhe, kwakha okwakubonakala sengathi ubhoko olunamathambo.
i-myositis
Kusukela ngaleso sikhathi, odokotela nososayensi abaningana baye baba nesandla ekwandiseni ulwazi ngalesi sifo. Ngasekupheleni kwekhulu le-XNUMX, u-Frankel no-Helferich bahlonze esinye sezici ezihlotshaniswa ne-FOP, okuyi-monophalangism. kanye ne-brachydactyly yozwane olukhulu. Ngo-1868 u-von Dusch wanikeza lesi simo igama elithi i-myositis ossificans progressiva, ekholelwa ukuthi imbangela yokwakheka amathambo endaweni heterotopic kwaba ukuvuvukala kwemisipha. UMcKusick washintsha igama lalesi sifo ngo-1972 ngemuva kokuthola ukuthi ukuvuvukala kwathinta futhi izicubu ezithambile (ama-tendon nama-ligaments) futhi okwesibili kuphela izicubu ze-skeletal muscle.
HR Eastlack: ukuqhubekela phambili kwesifo
Naphezu kokugula, u-HR Eastlack wajabulela ubuntwana obujabulisayo. Umthandi wefilimu, uHarry kuthiwa ubenesihlalo esibekelwe indawo enkabeni yomugqa wesikhombisa e-Hamilton Theatre e-Philadelphia, isihlalo ayengasihlalisa ngokukhululeka njengoba engakwazi ukugoba umlenze wakhe. I-FOP ngaleso sikhathi kwakuyisifo esasigubuzelwe yimfihlakalo. Emzamweni wokuqonda nokwelapha isimo sakhe, uHarry wabhekana nakho ama-biopsies amaningi kanye nokuhlinzwa okungu-11. Lezi zazingeyona nje into engenamsebenzi ngokuphelele kodwa futhi zaziyingozi, njengoba zazishukumisa nje ukuqhubeka kwesifo.
Eminyakeni embalwa nje, ukuqina kwasakazeka kusukela emlenzeni kuya emhlane, entanyeni nasesifubeni, kwaphoqa uHarry ukuba aphile ngobuhlungu futhi athembele kakhulu osizweni lukanina ngemisebenzi yansuku zonke. Lapho eneminyaka engu-15, umhlathi wakhe wawunjalo kuhlanganiswe unomphela, okwamenza ukuthi angadli ukudla okuqinileyo. Eminyakeni eyi-10 ngemuva kokuxilongwa, uHarry wahlolwa okusha, okwaveza ukuqhubekela phambili okungenakunyakaziswa kwalesi sifo: izicubu zemisipha, imisipha kanye nemisipha yomzimba wakhe osemusha kwakuguquguquka ngendlela engenakuhlehliswa ibe izicubu zamathambo ezivuthiwe.
I-skeleton yesibili...
Phakathi neminyaka embalwa u-HR Eastlack wazithola engenamandla futhi waphoqeleka ukuthi ahlale, engakwazi ukunyakazisa izitho, ikhanda, nezitho zangasese. A i-skeleton yesibili kwase kwakheka ngezicubu zakhe ezithambile, ikheji elingamathambo elalimcindezela ukuba abe ukuqina okungaholela ekufeni kwakhe.
Ngo-1958, uHarry wangena ekhaya lasebekhulile leziguli ezingelapheki ePhiladelphia. Lapha wachitha iminyaka engu-15 yokugcina yokuphila kwakhe, uma umuntu engabiza lokho ukuphila okuncishwe ithuba lokunyakaza nokukhuluma futhi kubonakala kuphela ukuhlupheka ngokomzimba nangokwengqondo ngenxa yokuguquguquka komzimba wakhe.
H. R. Eastlack: ukufa nokunikelwa kwamathambo
UHarry Raymond Eastlack washona ngo-1973, eneminyaka engu-39 kuphela ubudala, ngenxa yenyumoniya eyabangelwa ukungenzi lutho ngokomzimba. Ezinsukwini zokugcina zokuphila kwakhe uHarry utshela udadewabo isifiso sakhe nikela ngomzimba wakho ukuze ucwaninge, ukuze kutholakale imikhondo ewusizo ocwaningweni lwamathambo ayo ukuze kuthuthukiswe ukuqonda kwalesi sifo esibi. Uhlaka lwamathambo e-HR Eastlack manje selukhonjiswa eMutter Museum ePhiladelphia, futhi idolobha seliphenduke esinye sezikhungo eziyinhloko zocwaningo lwe-FOP. Uhlaka lwamathambo lunikelwa njalo ku-International FOP Association ukuze lusetshenziswe njengereferensi yodokotela, ososayensi, kanye neziguli phakathi nezingqungquthela zamazwe ngamazwe.
ukuwohloka komzimba
Lesi sifo besiyindida futhi sisaqhubeka nokuba ngenye yezingqinamba ezixakile ukuze imithi ixazulule, ngenxa yokungatholakali kwayo kanye nokungenzeki kokuhlolwa nokungenelela ezigulini ezithintekile ukuze zingabhebhetheki isimo sazo. Uhlaka lwamathambo ka-HR Eastlack luye lwembulwa kanjalo njengethuluzi eliyisisekelo lophenyo, kodwa ngaphezu kwakho konke luwubufakazi obuqondile nobubambekayo bobufakazi. ukuwohloka okubi ngokomzimba ezihlupha iziguli ezine-FOP. Amathambo avamile, uma isicubu esixhumanisa amathambo sisusiwe, awela enqwabeni yamathambo ahlakazekile futhi kufanele ahlanganiswe ngocingo oluhle kanye neglue. Esikhundleni salokho, uhlaka lwamathambo ka-Harry luhlanganiswe lube yisiqephu esisodwa esiqhubekayo, ngenxa yamabhuloho, amapuleti, namaribhoni ezicubu zamathambo ezakheke ezinkingeni ze-heterotopic ossification.
Ngokubheka uhlaka lwamathambo kungenzeka ukuthi uqaphele ukuthi amaribhoni nama-slabs ethambo aliqinisa kanjani ikholomu yomgogodla ogebhezini kanye nogebhezi ku-mandible. Amabhande ethambo axhumanisa umgogodla emaphethelweni futhi avimbe amahlombe, izindololwane, izinqulu namadolo, kuyilapho amabhuloho amathambo amancanyana axhuma izingalo ku-sternum futhi awele umbambo.
I-FOP, Stone Man Syndrome, izibonakalisa kanjani?
Indaba ka-Eastlack imele kakhulu isifundo esijwayelekile se-FOP. Eqinisweni, lesi sifo sibonakala ngokuthi a Inqubo ye-heterotopic ossification , okungukuthi, ezindaweni zomzimba lapho izicubu zethambo akufanele zibe khona. Izingane ezithintekile yi-stone man syndrome azivezi lesi sifo kusukela ekuzalweni kodwa, njengesibonakaliso esisobala kuphela, ziveza a ukukhubazeka kokuzalwa kozwane olukhulu. Kusukela ebuntwaneni, lesi sifo siqhubeka kukho konke ukuphila, indlela ukuvuvukala kwezicubu ezixhumeneyo noma imisipha, bese ibhujiswa futhi ithathelwe indawo ithambo. Lokhu kuholela ngokuqhubekayo ku- ukuhlanganiswa okuhlangene yohlelo lwamathambo.
Lelo thambo lesibili, i-stone man syndrome
Iziguli ezithintekile zibe sezibhekana nobunzima ukwakheka kohlaka lwamathambo esibili, eziwavalela kancane kancane ohlotsheni lwekheji enamathambo. Inqubo ye-ossification engavamile ingenzeka ngokuzumayo, ngokuvamile ngenxa yokulimala, ukulimala, ukujova emisipha, nezinqubo zokuvuvukala ezibangelwa izifo ezithathelwanayo.
Ngaphezu kokuvimbela ukuhamba kwamalunga, i-FOP ingabangela ukuphazamiseka kokukhuluma nokudla uma ithambo lisemisipheni yomlomo. Ngaphezu kwalokho, ukukhula kwezicubu zethambo ezizungeze i-ribcage kungaphazamisa ikhono layo lokukhula, okubangela ubunzima bokuphefumula. Iminyaka yokuphila ngokuvamile imayelana iminyaka 40 futhi ukufa kwenzeka ngenxa yezinkinga ngenxa ye-thoracic insufficiency syndrome.
Ukutholwa kofuzo olubhekele i-FOP, i-Stone Man Syndrome
Ingqophamlando emlandweni we-FOP kwaba ukutholakala ngo-2006 kofuzo olubangela lesi sifo. Eqinisweni, iqembu lamazwe ngamazwe labacwaningi lihlonze, ngokuhlaziywa kweqembu lezihloko ezithintwa yi-FOP, a ukuguqulwa kwe-heterozygous okuphindaphindayo kufuzo lwe-ACVR1. Lolu fuzo luhlanganisa a I-bone protein receptor uhlobo 1 evezwe ebusweni bama-stem cells. Ikakhulukazi, le receptor inesibopho sokuthuthukiswa kwe-embryonic yesistimu yamathambo kanye nokulungiswa kwayo ngemva kokuzalwa.
Ukuguqulwa okuhlonziwe kunquma kuphrotheni ukushintshwa kwe-amino acid eyodwa esizindeni sokwenza kusebenze sesamukeli. Lokhu kuhlukahluka kukholakala ukuthi kwanele ukuguqula umsebenzi weprotheni, ngaleyo ndlela kubangele inqubo ye-heterotopic ossification.
I-stone man syndrome ine-a iphethini ye-autosomal ebusayo yefa. KANYEKwanele ukuba nekhophi eyodwa eguquliwe yofuzo ukuze lesi sifo sizibonakalise. Nokho, ezimweni eziningi, abantu abane-FOP abayitholanga njengefa ikhophi enephutha yofuzo kubazali babo, kodwa kunalokho ukuguqulwa kuvele ngokuzenzekelayo kumuntu ngamunye.
Imibono yokwelashwa kwe-FOP, i-stone man syndrome
Kuze kube manje, i-stone man syndrome ayinakho ukwelashwa okwamanje. ukwelashwa kokuvimbela kukhawulelwe ekwehliseni ubungozi bokuhlukumezeka kanye nezinqubo ezithathelwanayo ezidala izinkinga ze-ossification. Nokho, ukutholakala koguquko olubangela lesi sifo kuye kwavumela ukuthuthukiswa kwe Amamodeli weselula nezilwane zesifo, ewusizo ekuthuthukiseni ukuqonda kwe-pathophysiology kanye nokutadisha izindlela zokwelapha ezingase zibe khona. Okwamanje, eziningana izidakamizwa sezifinyelele esigabeni sokuhlolwa komtholampilo futhi eminyakeni yamuva kuye kwavela izindlela ezintsha zokwelapha ezithembisayo. Zonke izindlela zokwelapha ezithuthukisiwe kuze kube manje ziqondise ngqo izindlela ezihilelekile ekuthuthukisweni kwezicubu zamathambo.
Nokho-ke miningi imibuzo engaphenduleki ebhekene nophenyo. Ngakho-ke, ukuqonda okugcwele kwezinqubo ze-pathophysiological kubalulekile ukukhomba izinhloso eziqondile nezisebenzayo zokwelapha. Ngaphezu kwalokho, njengazo zonke izifo ezingavamile, ukwenza izivivinyo zomtholampilo nakho kunzima. Inani leziguli ezingabhaliswa lincane kakhulu futhi izinhlolo ezilawulwa ngokungahleliwe azinakwenzeka.