Ukuhlola Okusha Okusekelwe Ekhaya kwe-Duchenne Muscular Dystrophy

A BAMBA MahhalaRelease 5 | eTurboNews | eTN
Isithombe sikaLinda Hohnholz
Ibhalwe ngu Linda Hohnholz

U-Emmes namuhla umemezele ukuthi ucwaningo lukaCasimir mayelana nokuthuthukiswa kwamakhadi we-Duchenne Video Assessment (DVA) lushicilelwe ku-PLOS ONE. U-Emmes uthole i-Casimir ngoMashi 2022, futhi leli qembu manje seliyingxenye ye-Emmes' Rare Disease Center, Orphan Reach™.

I-DVA iyinoveli, ukuhlolwa komphumela womtholampilo okusekelwe ekhaya okulinganisa ukuhamba kalula phakathi kwalabo abane-Duchenne muscular dystrophy (DMD) ngokuhlonza amaphethini okunyakaza ayisinxephezelo. Abanakekeli barekhoda ividiyo yeziguli ezenza imisebenzi ethile yokunyakaza ekhaya besebenzisa uhlelo lokusebenza lweselula oluvikelekile. Iphepha lichaza ukuthuthukiswa kwamakhadi amaphuzu asetshenziswa abelaphi bomzimba abaqeqeshwe yi-DVA ukuze bathole amavidiyo.

UMarielle Contesse kaCasimir, usosayensi wocwaningo, wayengumbhali oholayo, noMindy Leffler, umsunguli kanye nomongameli, kanye noChristine McSherry, umsunguli kanye nesikhulu esiphezulu, phakathi kwabanye ababhali ababambisene nabo.

Iphepha langaphambilini le-Muscle & Nerve, elibhalwe ngu-Contesse, Leffler nabanye abacwaningi be-Casimir, lethule imiphumela yocwaningo eyabonisa ukuthi i-DVA iyithuluzi elithembekile nelivumelekile lokulinganisa ukuhamba kalula njengenkomba yobunzima besifo ezigulini ezine-DMD. Iphepha lakamuva ku-PLOS ONE lichaza ngokuthuthukiswa kwamakhadi wesikolo e-DVA.

Iphepha le-PLOS ONE lichaza ucwaningo lokuthuthukiswa kwekhadi lamaphuzu olwenziwa nabelaphi bomzimba abanolwazi olunzulu lokuhlola iziguli ezine-DMD. Abacwaningi basebenzise inqubo ye-Delphi eguquliwe eyimizuliswano emibili ukuze baqoqe imibono yochwepheshe kumakhadi wamaphuzu. Phakathi nenqubo ye-Delphi, abelaphi bomzimba bahlola amakhadi okuphawula kuyo yonke imisebenzi engu-15 yokunyakaza. Imisebenzi yokunyakaza iyimisebenzi iziguli ezivame ukuyenza ekhaya, njengokuhamba, ukugibela izitebhisi, ukugqoka isikibha, nokudla. Ngemva kwemizuliswano emibili yokubuyekeza nezibuyekezo, iphaneli yochwepheshe yaqinisekisa ukuthi imibandela yokunyakaza eyisinxephezelo efakwe kumakhadi wesikolo e-DVA yayiqondakala, iphelele, futhi inenjongo yomtholampilo.

"I-DVA ihlinzeka ngefasitela endleleni iziguli ezine-Duchenne ezihamba ngayo nokusebenza endaweni yazo yasekhaya," kusho uMarielle Contesse, "futhi amakhadi ethu amaphuzu ahlinzeka ngendlela evamile kubelaphi bomzimba ukuze babone amaphethini okunyakaza ayisinxephezelo. Isilungiselelo sasekhaya sisivumela ukuthi sihlole uhla olubanzi nakakhulu lokunyakaza kwansuku zonke. Kuphinde kuqede isidingo sokuthi iziguli nemindeni zihambe amabanga amade ziye ezindaweni zokuhlolwa komtholampilo.”

Wengeze wathi, “Ekugcineni, siyethemba ukuthi i-DVA izokwazi ukubona izinguquko ekusebenzeni kwesiguli ngesikhathi esifushane kunezinyathelo ezikhona zemiphumela. Lokhu kungase kunciphise isikhathi iziguli ezisichitha zibamba iqhaza ocwaningweni lomtholampilo.”

Umphathi Omkhulu wakwa-Emmes uDkt. Christine Dingivan waphawula, “Lolu cwaningo lunikeza isisekelo sokusebenzisa i-Casimir's Duchenne Video Assessment ukuze kwandiswe amathuba okuhlonza ukuqhubeka kwesifo kanye nezinketho zokwelapha. Siphinde sigqugquzelwe ukusetshenziswa okungenzeka kwe-DVA ukuhlola ezinye izifo zemisipha ne-mitochondrial.”

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Isithombe sikaLinda Hohnholz

Linda Hohnholz

Umhleli omkhulu we eTurboNews ezinze eTN HQ.

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