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Terrible disease dying from complete lack of sleep

Discussion in 'JF Doctor' started by njiwa, Aug 3, 2011.

  1. njiwa

    njiwa JF-Expert Member

    #1
    Aug 3, 2011
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    Last night, i was on ER night shift .... one of my colleague alikuwa amechoka sana .... nikamuuliza " what`s going on " akanambia , have u ever heard about Fatal familial insomnia.....?! of coz alikuwa akinitania but nimeamuwa niwape faida about this mystery disease


    What is It ?

    Fatal Familial Insomnia (FFI) is a genetic sleep disorder but it is a rare one. ( Ni ugonjwa wa urithi ). FFI begins as an unexplained sleeplessness during middle age and rapidly develops into a fatal insomnia. It is caused by a genetic mutation which leads to a prion disease, related in nature to Mad Cow Disease (BSE or CJD) and Kuru (the laughing disease found in cannibalistic tribes in New Guinea) and even Alzheimer's Disease.



    so tuendelee na ( FFI ) AS I mentioned above ni genetic disease. Katika Genetics study Kuna kitu twakiita Prion

    what are the prions -

    A prion simply ni protein that occurs normally in a harmless form. By folding into an aberrant shape, the normal prion turns into a rogue agent. It then coopts other normal prions to become rogue prions.

    Hizi prions are the missing link between all these diseases {
    FFI, Mad Cow Disease (BSE or CJD) and Kuru}, and they tell us a lot about the nature of protein molecules and their ability to cause death.

    Dalili za Fatal Familial Insomnia

    Fatal insomnia is a baffling condition (and only officially discovered 10 years ago) because its symptoms resemble many common diseases - like dementia, end-stage alcoholism and encephalitis. The main symptom of FFI is the inability to sleep, and this causes high pulse and blood pressure, excessive sweating and a loss of coordination and motor skills.


    The disease manifests itself in four deteriorating stages:

    STAGE ONE - The sudden and inexplicable onset of insomnia causes panic attacks and unfounded phobias, lasting for about four months.

    STAGE TWO - As sleep deprivation takes hold, the panic attacks and hallucinations become severe, lasting for a further five months.

    STAGE THREE - The total insomnia causes rapid weight loss and limited mental functioning, lasting for up to three months.

    STAGE FOUR - Finally, the patient suffers from dementia and unresponsiveness, lasting for up to six months.


    Eventually the patient falls into a coma and dies from total insomnia. One of the most tragic aspects of FFI is that though the sufferer shows signs of dementia, they have a clear understanding of what is happening to them, while enduring the physical agony of total sleeplessness.

    Causes of Fatal Insomnia

    Kama nilivyoelezea hapo juu Fatal Familial Insomnia is a prion disease.

    In FFI, prions eat away the thalamus region of the brain, responsible for regulating sleep and various sensory and motor systems. This increasingly prevents the sufferer from losing consciousness - although their EEG readings show signs associated with REM sleep during waking hours: they are so sleep deprived, they are dreaming while awake

    Because Fatal Familial Insomnia is genetic, there is a 50% chance of a parent passing it on to their offspring. The tragic thing is, the symptoms don't show until after the child-bearing years are over (typically over 40 years), so parents usually pass on the defective gene without realizing.


    Fortunately, a diagnostic test is now available, but there is no known cure for FFI. The only hope is that gene therapy will offer a solution to future generations.





     
  2. Mnyang'anyi

    Mnyang'anyi Member

    #2
    Aug 3, 2011
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    Thanks doc!

    useful stuff, indeed...
     
  3. Roulette

    Roulette JF-Expert Member

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    Mar 28, 2013
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    njiwa, Sikutakiwa kusoma hii thread leo, I am mildly hypochondriac... Na hivi nina tatizo la usingizi ndio kabisaaa
     
    Last edited by a moderator: Jan 4, 2016
  4. MziziMkavu

    MziziMkavu JF-Expert Member

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    Mar 28, 2013
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    Bibie Roulette Mie sasa ninakwenda kulala good night bye
     
    Last edited by a moderator: Jan 4, 2016
  5. pmwasyoke

    pmwasyoke JF-Expert Member

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    Mar 28, 2013
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    Mimi pia imeniogofya, mara kila nikikosa usingizi (jambo ambalo huwa linanitokea mara nyingi) nitafikiri labda ndio ninaanzwa huo ugonjwa!
     
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