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Friday, June 10

  1. page Down Syndrome Jessica M edited ... Physical therapy and/or speech therapy can help people with Down syndrome develop more normall…
    ...
    Physical therapy and/or speech therapy can help people with Down syndrome develop more normally. Screening for common medical problems associated with the disorder, followed by corrective surgery can often improve quality of life. Environments increase their capacity to learn and lead a meaningful life.
    Research:
    ...
    around us. Scientists have made a mouse model of Down syndrome, in order to see how cognition and memory are affected by extra copies of 21st chromosome. They are hopeful that in 10 years, a drug will help people with Down syndrome think and remember normally.
    Additional Facts:
    Down syndrome is the only trisomy compatible with life. Only two trisomy’s have been observed in babies born alive (13 and 18), but babies born with these trisomes have only 5% of surviving a year. 90% of Trisomy 21 cases, the additional chromosomes come from the mother’s egg rather than the father’s egg. Down syndrome effects 1 out of every 800 to 1,000 babies. Down syndrome was originally described in 1866 by John Landon Down. French doctor, Jerome Lejeune, discovered Down syndrome.
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    3:33 am

Thursday, June 9

  1. page Porgeria Ashley J edited ... Some symptoms of this disease or disorder is rapid aging between one and two years of age. The…
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    Some symptoms of this disease or disorder is rapid aging between one and two years of age. Their growth rate slows down over periods of time. They are much shorter then any other healthy baby, or child. They have massive weight loss, a pinched nose, and death occurs at usually at age thirteen.
    Daily Life:
    .
    Diagnosis:
    Progeria is diagnosed when you see signs of weight loss, the children are not functioning normally and they have joint abnormalities they start to have wrinkly aged skin, stiff muscles, not wanting to eat (loss of apatite) etc.
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    6:02 am
  2. page Porgeria Ashley J edited ... Some symptoms of this disease or disorder is rapid aging between one and two years of age. The…
    ...
    Some symptoms of this disease or disorder is rapid aging between one and two years of age. Their growth rate slows down over periods of time. They are much shorter then any other healthy baby, or child. They have massive weight loss, a pinched nose, and death occurs at usually at age thirteen.
    Daily Life:
    Porgeria patients are full of life, they don’t care what is wrong with them at the time, and they live there life to the fullest; however, they often have stiff joints which makes it hard to move and try to being normal. They process normal brain function and they have normal inteligants..
    Diagnosis:
    Progeria is diagnosed when you see signs of weight loss, the children are not functioning normally and they have joint abnormalities they start to have wrinkly aged skin, stiff muscles, not wanting to eat (loss of apatite) etc.
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    5:53 am
  3. page homocystinuria emilyS edited Homocystinuria Description: (TNR, 12, Bold) Homocystinuria is inherited disorder that affects…
    Homocystinuria
    Description: (TNR, 12, Bold)
    Homocystinuria is inherited disorder that affects the metabolism of the amino acid. Metabolism refers to all the physical and chemical processes in the body that converts or uses energy like breathing, circulating blood, controlling body temperature, contracting muscles, digesting food and nutrients, elimating waste through urine and feces functioning of the brain and nerves. Approaches to in born errors of the metabolism.
    Inheritance:homocystinuria is inherited in families as autosomal recessive. That means the child must in herit the non working gene from both parents to be seriously affected with the disease. An autosomal gene must be presented in order for the disease or trait to develop. Homocystinuria is an inherited autosomal recessive defect in methionine metabolism that is caused by a deficiency in cystathioine synthase.this defect leads to a multisystemic disorder of the connective tissue, muscles, CNS, and cardiovascular.
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    5:43 am
  4. page Porgeria Ashley J edited ... {progeriaaaaa_disease.png} x-Name_of_Disease_or_Disorder_(Heading_2Resources: Pub Med Hea…
    ...
    {progeriaaaaa_disease.png}
    x-Name_of_Disease_or_Disorder_(Heading_2Resources:
    Pub Med Healthwww.ncbi.nlm.nih.gov
    www.**progeria**research.org/
    www.hayleyspage.com/

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    5:36 am
  5. page Porgeria Ashley J edited Name of Disease/Disorder (Times New Roman 14 centered) Description: (TNR, 12, Bold) Progeria D…
    Name of Disease/Disorder (Times New Roman 14 centered)
    Description: (TNR, 12, Bold)
    Progeria
    Description:

    Porgeria is
    ...
    or stoke.
    Inheritance:
    Progeria comes from a gene called LMNA this is pronounced Lamin-a this makes the nucleus unstable and the circular instability appears to a head in the process, aging into progeria.
    Symptoms:
    Some symptoms of this disease or disorder is rapid aging between one and two years of age. Their growth rate slows down over periods of time. They are much shorter then any other healthy baby, or child. They have massive weight loss, a pinched nose, and death occurs at usually at age thirteen.
    Daily Life:
    Porgeria patients are full of life, they don’t care what is wrong with them at the time, and they live there life to the fullest; however, they often have stiff joints which makes it hard to move and try to being normal. They process normal brain function and they have normal inteligants.
    Diagnosis:
    Progeria is diagnosed when you see signs of weight loss, the children are not functioning normally and they have joint abnormalities they start to have wrinkly aged skin, stiff muscles, not wanting to eat (loss of apatite) etc.
    Treatment:
    There is no cure for progeria but there is treatments to slow the process down and make it less painful for your child, your options of treatment are.. your child could take a low dose of asprin, they’re other medications that also help, physical therapy, occupational therapy, extraction of primary teeth because people with progeria often have teeth problems and it is hard for them. Investigational treatment, hydrotherapy, there are vitamins that you can take to help their body not shut down as easily and as fast like Nutrini, Pro-Cal, florid, and vitamin e.
    Research:
    Doctors and scientists are trying to find a cure but, they have not found anything yet to cure this disease or disorder.
    Additional Facts:
    New born babies and toddlers with progeria look normal, during the process of two and three their skin ages rapidly, they suffer from what the elderly have problems with like hip dislocation, stiff limbs, and cardiovascular disease. A child with progeria often has a small face, and chin do to their head size, progeria affects one in eight million, all races and cultures have been affected. There have been one hundred cases of progeria reported. In 1886 progeria was introduced.
    Punnett Square:
    Your PowerPoint Jpeg of Punnett Square with Key will be inserted here. (centered)
    Pedigree

    {progeriaaaaaaaaaaaa_disease.png}
    Pedigree
    Chart:
    Your PowerPoint jpeg of Pedigree Chart with key will be inserted here. (centered)
    x-Name_of_Disease_or_Disorder_(Heading_2Resources:
    Include hyperlink to websites that you used as part of your research.

    {progeriaaaaa_disease.png}
    x-Name_of_Disease_or_Disorder_(Heading_2Resources:

    Pub Med Health

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    5:33 am
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    5:30 am

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