Niemann-Pick disease Type C - causes, symptoms, diagnosis, treatment, pathology

  Рет қаралды 44,307

Osmosis from Elsevier

Osmosis from Elsevier

4 жыл бұрын

What is Niemann-Pick disease type C? Niemann-Pick disease type C, or NPC, is a rare genetically inherited condition caused by mutations in either the NPC1 or NPC2 genes. These mutations impair intracellular transport of cholesterol and other molecules, which causes progressive neurologic and developmental problems.
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Пікірлер: 30
@user-eg1zw8yn3w
@user-eg1zw8yn3w 4 жыл бұрын
I've been a subscriber for a while. Glad to see a video on this disease which few know about. Good job! A video on types A and B, along with info/comparison on progression and life expectancy would be good too.
@silent_whispers319
@silent_whispers319 2 жыл бұрын
Excellent video!! My son died of NP-C in 2006, and at the time there was limited information and no treatments were provided. It's a terrible disease!!
@osmosis
@osmosis 2 жыл бұрын
Sorry for your loss, Isabella. 🙏🏼
@KFSBonder
@KFSBonder 4 ай бұрын
What age was he?
@raheebr2438
@raheebr2438 4 жыл бұрын
Great explanation, as always!
@studioussoul2303
@studioussoul2303 3 жыл бұрын
thank you for providing valuable content, I - and many others - are extremely grateful for your hard work
@hugereductions
@hugereductions 4 жыл бұрын
Brilliant presentation... thank you.
@juanpedrolopezmartinez5380
@juanpedrolopezmartinez5380 4 жыл бұрын
So much beautifull videos of information... ¿And the treathment?
@maryjoylandingin63
@maryjoylandingin63 4 жыл бұрын
Great video and explanation. Hope you can have a video about "Pleural Effusion" because I know someone who's suffering from that. Hope you provide do's and don't. God bless!
@publichealth1061
@publichealth1061 4 жыл бұрын
Good job
@ferromero4109
@ferromero4109 4 жыл бұрын
this video is amazing
@maheethpattem5262
@maheethpattem5262 3 жыл бұрын
Cyclodextrin is said to be used present, anyone know how far is it useful in NPD?
@ishakkocatepe7658
@ishakkocatepe7658 Жыл бұрын
hi i have the npc1ve been taking miglustat eion for about 1.5 months now, it helped me but still not quite
@meriemaminatouil5179
@meriemaminatouil5179 Ай бұрын
Thanks ❤❤❤❤
@shahbaz9231
@shahbaz9231 4 жыл бұрын
An off topic question: Na+K+ Pump works in depolarisation or repolarization? Anyone can answer please
@deraezeokeke1475
@deraezeokeke1475 4 жыл бұрын
Both
@maheethpattem5262
@maheethpattem5262 3 жыл бұрын
more Na inside the cell depolarization, more K causes repolarization even both are positive, K helps in repolarization as its RMP is -80 something like that
@mahsayavari176
@mahsayavari176 3 жыл бұрын
My niece is suffering from NP, he is 10 months. What is the recommendation for his diet?
@rangeo8783
@rangeo8783 2 жыл бұрын
maybe reduced intake of cholesterol??
@1DrSushant
@1DrSushant 4 жыл бұрын
Which enzyme is involved in npd c?
@DrNeshOne
@DrNeshOne 3 жыл бұрын
No enzyme but the NPC1 or 2 transporters.
@sagarboss2004
@sagarboss2004 3 жыл бұрын
Great
@gulsherahmad3709
@gulsherahmad3709 Жыл бұрын
My son is 2year old his nieman pick deseas type c1 his spleen large
@funnyfunny8748
@funnyfunny8748 Жыл бұрын
Hello please contact me and give me some information about your children and Nima pick tipo c ,same problem my child
@Sam_i_am_88
@Sam_i_am_88 Жыл бұрын
​@@funnyfunny8748 checkout IntraBio they have a drug called ib1000 in testing with very impressive data
@gajendrab8383
@gajendrab8383 4 ай бұрын
Hi How is your son now
@gajendrab8383
@gajendrab8383 4 ай бұрын
How is he now
@markjensen5786
@markjensen5786 4 ай бұрын
it caught my eye , (silent whispers) very sorry
@markjensen5786
@markjensen5786 4 ай бұрын
40,i'm just hoping with np-c
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