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Thursday, June 9

  1. page Progeria Isaiah S edited ... Daily Life: Diagnosis: ... corrupted and u you are diagnosis Treatment: As far as t…
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    Daily Life:
    Diagnosis:
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    corrupted and uyou are diagnosis
    Treatment:
    As far as treatment goes they have developed PRF a Progeria research program that came together from the many donations of people who wish to help Progeria research. In mid April 2010 they made a Progeria treatment book mainly made for parents but used by doctors to help deal with it when at home and there is no doctor around to help. They also meet with their doctor often for shots and check ups.
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  2. page homocystinuria emilyS edited {Presentation2.pptx} Homocystinuria Description: (TNR, 12, Bold) ... Symptoms may occur as …
    {Presentation2.pptx}
    Homocystinuria
    Description: (TNR, 12, Bold)
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    Symptoms may occur as mildly delayed development or failure to thrive increasing visual problems may lead to diagnosis of these condition like chest deformities, flush across the cheeks, high arches of the feet, knock knees, long limbs, mental retardation, near sightedness, psychiatric disorders, and spidery fingers.
    Daily Life:
    A person with these symptoms cannot break down the methionine in food. Methionine and homocystine are a mino acids needed for proper growth and development but too much can cause serious health problems. People with disease cant go to regular school they usually have to be home school for their rest of there lifes.
    Diagnosis:homocytinuria caused by cystathionine beta synthase deficiency or CBS deficiency. The symptoms including eye problems, skeletal abnormalities, anion creased risk for dangerous blood clots. The cardinal biochemical features of homocystinuria are mark edly increased concentrations of plasma homocystina, total homocysteine, homocysteine cysteine mixed disulfide and methionine.
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    folic acid.
    Research:
    Prenatal diagnosis of homocystathionine synthase if the diagnosis is made while a patient is young vitamin B6 supplementation for those who are responsive. Dietary restriction of methionine with supplementation of cystin for those who are not. Other treatment focused on clinical features such as aspirin to combat thrombosis. With treatment mortality and mental retardation are prevented or reduced, clinical variability of other features remains.
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    There is wide variation in clinical course for affected infants. Clinical features include circulatory blood clotting thromboembolism, physical and mental development disabilities. Approximately half die by age twenty five due to thromboembolism. Development delay a physical defects affect most, the most common defect cystathionine synthase deficiency can be classified as either responsive or non-responsive to treatment with vitamin B6. This may be related to residual enzyme activity needed for response.
    Punnett Square:
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    Pedigree Chart:
    Your PowerPoint jpeg of Pedigree Chart with key will be inserted here. (centered){Slide2.PNG}
    Resources:
    Include hyperlink to websites that you used as part of your research.Pub.Pub Med Health
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  7. page Stickler Syndrome Ryan K edited ... Nearsightedness Breathing difficulties Daily Life: People with Stickler syndrome have to t…
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    Nearsightedness
    Breathing difficulties
    Daily Life:
    People with Stickler syndrome have to take daily medications. People with Stickler syndrome can help improve their hearing by wearing a hearing. Fortunately, Stickler syndrome DOES NOT affect life expectancy.

    Diagnosis:Stickler Syndrome can sometimes be diagnosed based on your child’s medical history. Sometimes you can diagnose it with even a simple physical exam. Additional test are sometimes needed to find the severity of the symptoms and help direct treatment decisions. X-rays can look at bone structures to see if there are any abnormalities. Eye exams can also see if gel is filling in your eyes.
    Treatment:
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