Amiotrofična lateralna skleroza
Amiotrofična lateralna skleroza (Lu Gerigova bolest) | |
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MRI (parasagittal FLAIR) demonstrira povišeni T2 signal u okviru zadnjeg dela unutrašnje kapsule, što je konsistentno sa kliničkom ALS dijagnozom | |
Klasifikacija i spoljašnji resursi | |
Specijalnost | neurologija |
Patient UK | Amiotrofična lateralna skleroza |
Amiotrofična lateralna skleroza (ALS), Šarkoova bolest ili Lu Gerigova bolest (skraćeno ALS) pripada grupi neuroloških bolesti centralnog nervnog sistema, i primarno zahvata gornje i donje motorne neurone.[1][2][3] Jedna je od najčešćih bolesti prouzrokovanih degeneracijom motornih neurona. Ona može da se javi pojedinačno ili kao nasledna porodična bolest (10% svih slučajeva ALS-a). Za 20% nasleđenih ALS-a dokazana je mutacija gena za citosol[4][5], bakar/cink superoksid dismutazu (SOD 1).[6][7] Do danas je identifikovano gotovo 50 SOD 1 mutacija kod osoba s porodičnim ALS-om. Mada je svako podložan oboljenju, ALS najčešće pogađa sredovečne osobe.[8]
Čak 20.000 ljudi u SAD boluje od ALS-a, prema podacima Nacionalnog instituta za neurološke poremećaje i moždani udar, a svake godine dijagnostikuje se 5.000 novih slučajeva.
U početku ljudi mogu primetiti slabost u mišićima, trzanje ili grčenje, a potom bolest progresivno onesposobljava hod, govor, gutanje i na kraju disanje.[9] Mnogi bolesnici provedu poslednje dane života u potpunosti paralizovani, dok im mozak i dalje funkcioniše.[10]
Klinička slika je karakterisana progresivnim gubitkom mišićne mase i snage, fascikulacijama, spasticitetom, hiperrefleksijom i ekstenzornim plantarnim odgovorom (pozitivan znak Babinski refleksa), kao i razvojem dizartrije i disfagije.
Bolest ima brzi progresivni tok, a jedini odobreni lek od strane FDA je riluzol. Iako tretman riluzolom može produžiti život pacijenta, njegovi učinci su skromni.
Definicija[уреди | уреди извор]
„ | Amiotrofična lateralna skleroza je bolest koja zahvata donji motorni neuron (DMN), lokalizovan u moždanom stablu i prednjim delovima kičmene moždine i prostire se do mišića i gornjeg motornog neurona (GMN), odnosno kortikospinalnog puta lokalizovanog u motornoj kori, koji se zatim prostire descendentno i inerviše donji motorni neuron.[11] | ” |
Istorija[уреди | уреди извор]
Prvi (nepotpuni) opis ove po mnoge bolesnike teske bolesti dao je Aran 1850. godine. Prema jednim 1869. ili po drugim izvorima 1873. godine, Žan-Marten Šarko (Jean-Martin Charcot; 1825—1893) , francuski neurolog, (koji se smatra osnivačem i prvim profesorom moderne neurologije), među prvima je opširnije opisao bolest i izdvojio ALS od drugih mišićnih atrofija. Naime on je uvideo da je kod ove bolesti mišićna atrofija udružena sa sklerozom bočnih snopova kičmene moždine. Njemu u čast bolest nosi naziv Šarkoova bolest, (Maladie de Charcot, Charcots disease). Ovaj naziv se najčešće koristi u francuskom govornom području.[12]
U Sjedinjenim Američkim Državama ALS je poznatija kao Lu Gerigova bolest (Lou Gehrig’s disease), po američkom igraču bejzbola obolelom od ove bolesti. Lu Gerig (Lou Gehrig) je bio američki bejzbol igrač koji je na vrhuncu svoje slave oboleo od ove bolesti i od nje umro 1941. godine. Tako se u Američkoj literaturi opis amiotrofične lateralne skleroze može često pronaći i pod njegovim imenom. Još jedno poznato ime je i Stiven Hoking, koji se smatra najistaknutijim astrofizičarem današnjice, koji je od bolesti motornog neurona bolovao od 1960. godine.[13]
Epidemiologija[уреди | уреди извор]
Incidenca i prevalenca ALS je oko 1 do 3 bolesnika na 100.000 novih slučajeva ili tri do pet bolesnika na 100.000 svih slučajeva godišnje.
- Morbiditet
U četiri regiona na zapadnom Pacifiku (Guam, Papua nova Gvineja, severna Australija i poluostrvo Ki u Japanu) posstoje endemska područja sa 5% do 10% familijarnih slučajeva ALS sa autozomno dominantnim tipom nasleđivanja, što je prvi put objavljeno 1993.god. u Britanskom časopisu „Nature“.
- Polne razlike
Kod radno produktivnih osoba mlađe životne ddobi, muškarci češće obolevaju od žena, sa ukupnim muško-ženskim odnosom 1,5-2: 1 .[14]
U starijem životnom dobu, incidencija teži izjednačavanju polnih razlika, što se događa u dobi od 40 do 50 godine u nekim populacijama ili u dobi od 65 do 70 godina u drugima.[15]
- Životna dob
Većina obolelih je između 50 i 75 godina starosti. Napad ALS-a mogu se pojaviti od tinejdžerskih godina do kasnih 80-ih.
Incidencija raste s povećanjem dobi do starosti oko 75-80 godina. Srednja životna dob pojave sporadičnih ALS je 65 godina; prosečne dob za nastupanje familijarnih oblika ALS je u rasponu od 46 do 55 godina.[16]
- Smrtnost-mortalitet
ALS je progresivno, smrtonosno oboljenje, kod koga bolesnici pacijenti najčešče umiru od respiratorne paralize. Prosečno preživljavanje je tri do pet godina, mada se u literaturi navode slučajevi mnogo kraćeg ili mnogo dužeg preživljavanja.
Etiologija[уреди | уреди извор]
Bolesti motornog neurona (BMN) obuhvataju grupu oboljenja koja nastaju kao posledica oštećenja i nestajanja nervnih ćelija u mozgu i kičmenoj moždini koje su odgovorne za uspešno obavljanje pokreta i koordinaciju aktivnosti mišića. Te nervne ćelije zovu se motoneuroni. Ovakav tip oštećenja dovodi do funkcionalnih ispada i slabosti u mišićima ruku, nogu i mišićima koji su od značaja za disanje, govor i gutanje. Iz ove grupe bolesti motoneurona kod odraslih najučestalija je amiotrofična lateralna skleroza (ALS), kod koje su prisutni svi pomenuti simptomi.
Tačan mehanizam koji uzrokuje ALS nepoznat je za većinu sporadičnih ili sporadičnih porodičnih slučajeva. Kako je u većini slučajeva ALS sporadična, kauzalni uzroci ALS su najčešće sporadični, što otežava utvrđivanje etiologije i uzroka bolesti. Kod porodičnog oblika ALS kao mogući kauzalni uzročnik bolesti navode se mnogobrojne mutacije (anomalije) gena.
Mada je sklonost ka mutaciji gena primarno otkrivena kod porodičnog oblika ALS u pojedinim porodicama postoji i sklonost ka sporadičnim oblicima ALS. To je za očekivati, jer kao što postoji razlika između pojedinih članova unutar porodice tako se i pojava sporadičnih oblika bolesti zasniva na pravilno uzetoj porodičnoj istoriji bolesti, što opet zavisi o genskoj istoriji, veličini porodice, životnom dobu članova porodice, i nivoa znanja osobe od koje se uzima anamneza.[17]
Osim toga, bolesnici koji pripadaju prvom „kolenu“ ili prvostepenim srodnicima, sa naizgled sporadičnim oblikom bolesti, imaju povećan rizik od ALS. Opšti životni rizik od ALS kod ovih srodnika je međutim nizak (oko 1 u 50).[18]
Opšte informacije[уреди | уреди извор]
Kod ALS neurodegenerativni proces u motornim neuronima nalazi se u osnovi patoloških promena, u kojima dominira gubitak motornih ćelija prednjih rogova kičmene moždine i motornim jedrima donjega moždanog stabla.
- U prednjim rogovima kičmene moždine atrofiraju alfa motorne ćelije, dok su gama ćelije procesom degeneracije zahvaćene kasnije i u manjoj meri.
- U moždanom stablu oštećenja se najbolje vide u motornim jedrima X, XI. i XII. moždanog živca, manje u jedrima V. i VII moždanog živca. Uvek ostaju sačuvana tela pokretača očnih bulbusa i motorna jedra u sakralnim segmentima leđnog dela kičmene moždine koje inervišu vezikorektalne sfinktere. Iz brojnih istraživanja poznato je, da ovi neuroni nemaju adrenergičke receptore i zato su sličniji autonomnim neuronima. Vidljiva je asimetrija ovih lezija ogleda se i u nesimetričnosti kliničkih simptoma i znakova.[19]
- Degenerativne promene u citoplazmi
Neurofilamenti predstavljaju strukturalne belančevine u neuronu i ima ih više vrsta (NF-L, NF-H, NF-M). Količinom neurofilamenata određena je debljina nervnog vlakna. Oni su odgovorni su za aksoplazmatski transport, a promene u tom transportu uzrokuju različite patološke promene u neuronu. Fosforilirani neurofilamenti nakupljaju se u telu neurona i proksimalnom delu aksona u kojima se i razvija sfenoidna formacija koja se smatra početnom neurodegenerativnom promenom i najvjerojatnije uzrokom promene u aksonalnom transportu. Oticanje proksimalnih delova aksona verovatno prethodi vidljivim promenama u samim ćelijama. Smatra se da je akumulacija neurofilamenata glavni znak neurodegeneracije. Takve promene nalaze se kod porodičnog oblika ALS (PALS), sporadičnog oblika ALS (SALS), spinalnih mišićnih atrofija (SMA) i hereditarnih senzomotornih neuropatija (HSMN).[19]

Kao posledica promene neurofilamenata razvija se bolest motornog neurona, što je prvo utvrđeno kod eksperimentalnog miša. Na isti način promene neurofilamenata mogu nastati i kod čoveka. Karakteristične citoplazmatske inkluzije su posebna vrsta telašaca tzv. Bunina telešca koja su specifična za ALS. To su eozinofilne inkluzije veličine 2-7 mikrometara, koje se javljaju pojedinačno ili u grupicama stvarajući lance.
Kod ALS poznata je i pojava bazofilne inkluzije veličine 4-16 mikrometara, kao i obilnija pojava RNA koja se uočava kod bolesnika mlađih osoba. Poznati su i ubikutinski proteini, imunoreaktivne inkluzije, koje se stvaraju preko lizoma i specifične su samo za ALS.
Fragmentacija Goldžijevog aparata je rana patološka promena koja se uočava kod oko 30% bolesnika sa ALS. Telešca, kao što su Lewyjeva, su zapravo inkluzije koje se nalaze kod PALS kao i kod SALS. Ona su veličine 3-5 mikrometara i okružena su svetlim oreolom. Sadrže mikrotubule i vakuole a mogu biti udružena sa Buninim telašcima. U vidnom polju elektronskom mikroskopijom mogu se uočiti pahuljasti, nežni mikrotubuli i grubi endoplazmatski retikulum.
Opisane degenerativne promene postupno dovode do gubitka ćelija, a mnoge su od preživelih ćelija smanjene, „skupljene“, spongiozno izmenjene i ispunjene lipofuscinom. Propadanje ćelija u moždanoj kori i kičmenoj moždini nadoknađuje proliferacija glijalnih ćelija. Prednji koreni kičmene moždine su neuobičajeno tanki, a u njima postoji neproporcionalni gubitak velikih mijeliniziranih vlakana u motornim živcima. Posledično, u mišićnim vlaknima razvija se tipična denervacijskaa atrofija, različite starosti. Degeneracija i smanjenje prednjeg i bočnog piramidnog trakta je najjače izražena u cervikalnim (vratnim) i lumbalnim (slabinskim) segmentima kičmene moždine, ali se može pratiti i kroz moždano stablo sve do zadnjeg kraka kapsule interne i korone radijate.
Mikroskopski se vidi da su nestale Betzeove ćelije petog sloja precentralnog girusa motorne kore ali i prefrontalna motorne kore koja pokazuje degenerativne promene. To se može videti kao atrofija frontalnog režnja na MRT, a ponekad se i makroskopski vidi atrofija precentralnog girusa.
Degeneracija piramidnih puteva nije posledica atrofije moždane kore, jednako tako ni propadanje ćelija prednjih rogova nije izazvano transneuralnom degeneracijom, jer patološki proces može započeti na bilo kom nivou motoričkog sistema i u pojedinim presecima pokazuje oštećenjarazličitog stupena Piramidalni put je izmenjen često duž celog njegovog toka.[19]
Etiopatogeneza[уреди | уреди извор]

Na nivou ćelija postoji veliki broj mehanizama koji mogu pokrenuti proces degeneracije motornih neurona. Neki od tih mehanizama uključuju; mutaciju gena, oksidativni stres, toksičnost glutamata. U fazi istraživanja su i uticaj neurotrofičnih faktora, mogući poremećaj imunoloških funkcija, način života i faktori rizika iz spoljašnje sredine.[19]
- Neurotrofični faktori
U grupu faktora koji utiče na na normalan rast i regulaciju aktivnosti svih subpopulacija nervnih ćelija, spadaju faktori rasta nervne ćelije (nerve growth factor (NGF)). U neurotrofičke faktore odgovorne za razvoj motoneurona spadaju: neurotrophins, ciliary neurotrophic factor, hepatocyte growth factor, insulinlike growth factor, glialderived growth factor, itd.[22] Zato razvoj motoneurona zavisi od podrške neurotrofičnih faktora (npr. nedostatak glial growth faktora dovodi do redukcije Schwanovih ćelija i motoneurona.
Prema brojnim istraživanjima antiapoptotički signal neurotrofičnih faktora učestvuje u raznim patomehanizmima koji mogu biti odgovorni za smrt neurona. Tako ako je delovanje neurotrofičnih faktora neadekvatno dolazi do smrti motoneurona.
- Egzogeni neurotoksini
Na osnovu višegodišnjih istraživanja i brojnih epidemioloških studija o načinu života i uticaju spoljašnjih faktora koji bi mogli delovati kao „okidački mehanizmi“ na pojavu ALS, uočene su moguće veze obolelih osoba sa prethodnim izlaganjima mehaničkoj ili elektrotraumi, jonizujućem zračenju, virusnoj infekciji, raznim hemikalijama, teškim metalima (olovo, cink, živa, aluminijum ) i drugim elementima u tragovima. Nekoliko naučnih studija ustanovilo je statistički značajniju korelacije između ALS i izlaganja nekim poljoprivrednim pesticidima.[23][24][25][26]
Nedavno sprovedena studija o uticaju nepravilne ishrane ili dijetalne ishrane na rizik pojave bolesti otkrila je da su pacijenti sa ALS unosili u organizam manje vitamina E i nezasićenih masnoća u godini koja je prethodila razvoju simptoma. Međutim nije pouzdano dokazana direktna uzročna veza; pa se kao jedino moguće objašnjenje može prihvatiti stav da ti faktori, najverovatnije, samo povećavaju rizik za razvoja ALS, kumulativnim dejstvom ili slabljenjem funkcija nervnih ćelija, čineći ih osjetljivijima na procese degeneracije.[19]
Klinička slika[уреди | уреди извор]
Potpuno razvijenu kliničku sliku ALS karakteriše kombinacija atrofične i spastičke oduzetosti. Bolest je u načelu asimetrična. Ne postoje jasna pravila koja mogu objasniti raspodelu inicijalnih simptoma i njihovo dalje intenziviranje.
Kod otprilike 50% bolesnika ALS započinje atrofijama malih mišića šaka, zatim se javlja paraspastičnost nogu, da bi u daljem toku došlo do zahvatanja i područja inervacije motornih moždanih živaca.
Bolest često može započeti sa atrofičnim ili spastičnim parezama potkolenica i stopala, koje zatim zahvataju ruke i bulbarne mišiće (ascendentni oblik). U oko 20% bolesnika inicijalni simptomi su bulbarne pareze, koje se manifestuju smetnjama govora i gutanja (descendentni oblik).
Ako su prisutne centralne i periferne bulbarne smetnje često se kod takvih bolesnika javlja patološki (prisilni) smeh i plač. Osim toga kliničkom slikom mogu dominirati i mnogi drugih razvojni tipovi bolesti. Naročito često izostaju patološki refleksi. Fascikulacije se često uočavaju, i u mišićima koji nisu paretični.
Senzitivni poremećaji, koji nadmašuju povremene blaže parestezije, ili pak poremećaji kontrole mikcije ne pripadaju kliničkoj slici ALS-a. Retko se javljaju psihičke promene poput depresije ili drugih blažih kognitivnih smetnji.
U odmaklom periodu bolesti disanje postaje otežano zbog oštećenja interkostalnih mišića i dijafragme, pa je slabost respiratorne muskulature čest je uzrok smrti.
Tok kliničke slike bolesti je nezaustavljivo progresivan. Vrsta po kojoj se bolest razvija i dob u kojoj se pojavljuje ne pružaju pouzdane prognostičke elemente. Što se bolest ranije pojavi, može se očekivati duži period preživljavanja. Polovina bolesnika umire unutar dve godine a 90% unutar šest godina od početka bolesti (krajnji periodi preživljavanja su u rasponu od 6 mesec, minimalno do 20 godina maksimalno).[19]
Dijagnoza[уреди | уреди извор]
Metode ispitivanja | Preporučene metode (obavezno) |
U pojedinim slučajevima (prema potrebi) |
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Krv |
|
|
Mokraća |
| |
Likvor |
| |
Radiološka dijagnostika |
|
|
Neurofiziološka dijagnostika |
|
Dijagnostički kriterijumi za ALS:[уреди | уреди извор]
Kriterijumi | Znaci i simptomi |
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Pozitivni kriterijumu (prisutni znaci) |
|
Odsutnost sledećih simptoma |
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Simptomi koji idu u prilog dijagnoze ALS |
|
Diferencijalna dijagnoza[уреди | уреди извор]
Lokalizacija promena | Bolesti |
---|---|
Moždano stablo i kičmena moždina |
|
Ćelije prednjih rogova kičmene moždine |
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Bolesti korena, pleksusa, živaca |
|
Mozak |
|
Neuromišićna sinapsa |
|
Mišić |
|
Sistemske bolesti |
|
Terapija[уреди | уреди извор]
Kako etiopatogeneza ALS još nije razjašnjena tako i specifično lečenje bolesti nije moguće, pa se u terapiji najčešće sprovode sledeći simptomatski i suportivni postupci:
- U ranim stadijumima, fizikalna terapija u svrhu održavanja pokretljivosti
- Smanjenje spastičnosti mišića, miotonolitičkim lekovima
- Kupiranje bulbarnih simptoma antiholinergiskim lekovima, u cilju smanjenja salivacije (lučenja pljuvačke)
- Kupiranje simptoma u bolesnika s mijastenijskom komponentom ALS, primenom malih doza mestinona
- Otklanjanje smetnji disanja, sve učestalijom primenom asistiranog disanja metodom neinvazivne ventilacije (NIV), ili u težim oblicima primenom traheotomije
- Otklanjanje smetnji otežanog gutanja i ishrane, nosnoželudačnom sondom, eventualno gastrostomom.[19]
Vidi još[уреди | уреди извор]
Izvori[уреди | уреди извор]
- ^ Мишић, Милан, ур. (2005). Енциклопедија Британика. А-Б. Београд: Народна књига : Политика. стр. 43. ISBN 86-331-2075-5.
- ^ Kwong LK, Uryu K, Trojanowski JQ, Lee VM (2008). „TDP-43 proteinopathies: neurodegenerative protein misfolding diseases without amyloidosis”. Neurosignals. 16 (1): 41—51. PMID 18097159. doi:10.1159/000109758.
- ^ Kerman A, Liu HN, Croul S, Bilbao J, Rogaeva E, Zinman L, Robertson J, Chakrabartty A (2010). „Amyotrophic lateral sclerosis is a non-amyloid disease in which extensive misfolding of SOD1 is unique to the familial form”. Acta Neuropathol. 119 (3): 335—44. PMID 20111867. doi:10.1007/s00401-010-0646-5.
- ^ Reaume A, Elliott J, Hoffman E, Kowall N, Ferrante R, Siwek D, Wilcox H, Flood D, Beal M, Brown R, Scott R, Snider W (1996). „Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury”. Nat Genet. 13 (1): 43—7. PMID 8673102. doi:10.1038/ng0596-43.
- ^ Bruijn L, Houseweart M, Kato S, Anderson K, Anderson S, Ohama E, Reaume A, Scott R, Cleveland D (1998). „Aggregation and motor neuron toxicity of an ALS-linked SOD1 mutant independent from wild-type SOD1”. Science. 281 (5384): 1851—4. PMID 9743498. doi:10.1126/science.281.5384.1851.
- ^ Conwit, Robin A. (2006). „Preventing familial ALS: A clinical trial may be feasible but is an efficacy trial warranted?”. Journal of the Neurological Sciences. 251 (1–2): 1—2. ISSN 0022-510X. PMID 17070848. doi:10.1016/j.jns.2006.07.009.
- ^ Al-Chalabi Ammar, P. Nigel Leig Recent advances in amyotrophic lateral sclerosis Current Opinion in Neurology, 2000. vol. 13.4 ; 397–405.
- ^ ALS Clinic at the Penn State Milton S. Hershey Medical Center Pristupljeno 1. 6. 2017.
- ^ "Amyotrophic Lateral Sclerosis Fact Sheet" Архивирано на сајту Wayback Machine (12. октобар 2010) on National Institute of Neurological Disorders and Stroke
- ^ Phukan J, Pender NP, Hardiman O (2007). „Cognitive impairment in amyotrophic lateral sclerosis”. Lancet Neurol. 6 (11): 994—1003. PMID 17945153. doi:10.1016/S1474-4422(07)70265-X.
- ^ Brown RH. Amyotrophic lateral sclerosis. MedLink-Neurobase third 2000 edition
- ^ Биографија Жан-Мартен Шаркоа (Jean-Martin Charcot) на whonamedit.com, Приступљено 6. јануар 2011.
- ^ Lacković Zdravko. Ekscitacijske aminokiseline. Neurotransmitori u zdravlju i bolesti; Medicinski fakultet Sveučilišta u Zagrebu, 1994; 185-214.
- ^ Armon C. Epidemiology of ALS/MND. In: Shaw P and Strong M, eds. Motor Neuron Disorders. Elsevier Sciences: 2003:167-206.
- ^ Manjaly ZR, Scott KM, Abhinav K, Wijesekera L, Ganesalingam J, Goldstein LH, et al. The sex ratio in amyotrophic lateral sclerosis: A population based study. Amyotroph Lateral Scler. Oct 2010;11(5):439-42. [Medline].
- ^ Leigh PN, Swash M. Motor Neuron Disaese, Springer Verlag, London, 1995.
- ^ Al-Chalabi A, Lewis CM. Modelling the effects of penetrance and family size on rates of sporadic and familial disease. Hum Hered. 2011;71(4):281-8. Medline. Pristupljeno 4.9.2014.
- ^ Hanby MF, Scott KM, Scotton W, Wijesekera L, Mole T, Ellis CE, et al. The risk to relatives of patients with sporadic amyotrophic lateral sclerosis. Brain. Dec 2011;134:3454-7.
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Медији везани за чланак Amiotrofična lateralna skleroza на Викимедијиној остави
- Les Turner ALS Fondacija
- Dodatna pomoć za ALS
- ALS Asocijacija
- Stephen Hawking - vebsajt
- Klinička ispitivanja Neurodeksa
- Lou Gehrig - vebsajt Архивирано на сајту Wayback Machine (9. мај 2008)
- ALS-Projekat - Besplatni komunikacioni softver za ALS bolesnike
- Fondacija za razvoj ALS terapije
- PatientsLikeMe
- Duke ALS Klinika
- Robert Packard centar za ALS istraživanje
- Grupa za podršku ALS bolesnika
- ALS-TDF forumi
- BrainTalk forum
- BUILD UK
- Patrick O'Brien fondacija
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