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Ðề tài: Case Hoa sinh

  1. #1
    hoanganh_89
    Guest

    Default Case Hoa sinh

    Chủ Đề: Default Case Hoa sinh

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    ►Ngày Gửi: 16-03-09 ►Đánh Giá: Sao

    Vừa tìm thấy một vài case hoá sinh huyết học, bà con coi chơi tham khảo:

    CASE 1

    A 15-year-old African-American female presents to the emergency room with complaints of bilateral thigh and hip pain. The pain has been present for 1 day and is steadily increasing in severity. Acetaminophen and ibuprofen have not relieved her symptoms. She denies any recent trauma or excessive exercise. She does report feeling fatigued and has been having burning with urination along with urinating frequently. She reports having similar pain episodes in the past, sometimes requiring hospitalization. On examination, she is afebrile (without fever) and in no acute distress. No one in her family has similar episodes. Her conjunctiva and mucosal membranes are slightly pale in col- oration. She has nonspecific bilateral anterior thigh pain with no abnormalities appreciated. The remainder of her examination is completely normal. Her white blood cell count is elevated at 17,000/mm3, and her hemoglobin (Hb) level is decreased at 7.1 g/dL. The urinalysis demonstrated an abnormal number of numerous bacteria.

    ◆ What is the most likely diagnosis?

    ◆ What is the molecular genetics behind this disorder?

    ◆ What is the pathophysiologic mechanism of her symptoms?

    Bài được trích trong sách "Case files of Biochemistry" - Lange . NXB: McGraw Hill , 2008.

  2. #2
    hoanganh_89
    Guest

    Default


    ANSWERS TO CASE 1: SICKLE CELL DISEASE

    Summary: A 15-year-old African-American female with recurrent bilateral thigh and hip pain, anemia, and symptoms and laboratory evidence of a urinary tract infection.
    ◆ Most likely diagnosis: Sickle cell disease (pain crisis).
    ◆ Biochemical mechanism of disease: Single amino acid substitution on hemoglobin beta chain, inherited in an autosomal recessive fashion (1 of
    12 African Americans in United States are carriers of the trait).

    ◆ Pathophysiologic mechanism of symptoms: The sickled red blood cells cause infarction of bone, lung, kidney, and other tissue from vasoocclusion.

    CLINICAL CORRELATION

    This 15-year-old female’s description of her pain is typical of a sickle cell pain crisis. Many times, infection is a trigger, most commonly pneumonia or a urinary tract infection. This case is consistent with a urinary tract infection, indicated by her symptoms of urinary frequency, and burning with urination (dysuria). Her white blood cell count is elevated in response to the infection. The low hemo- globin level is consistent with sickle cell anemia. Since she is homozygous (both genes coding for sickle hemoglobin), both her parents have sickle cell trait (heterozygous) and thus do not have symptoms. The diagnosis can be established with hemoglobin electrophoresis. Treatment includes searching for an underlying cause of crisis (infection, hypoxia, fever, excessive exercise, and extreme changes in temperature), administration of oxygen, intravenous fluids for hydration, pain management, and consideration of a blood transfusion.

  3. #3
    hoanganh_89
    Guest

    Default


    Hemoglobin electrophoresis is a blood test that can detect different types of hemoglobin. It uses the principles of gel electrophoresis to separate out the various types of hemoglobin. The test can detect abnormal levels of HbS, the form associated with sickle-cell disease, as well as other abnormal haemoglobin-related blood disorders, such as hemoglobin C. It can also be used to determine whether there is a deficiency of any normal form of hemoglobin, as in the group of diseases known as thalassemias. Different hemoglobins have different charges, and according to those charges and the amount, hemoglobins move at different speeds in the gel whether in alkaline gel or acid gel (See Migration Patterns)

    Trích : wikipedia

    ------------------------------------------
    listening to "Đêm tình yêu" - Phương Linh & HATuấn

  4. #4
    phuc-hy
    Guest

    Default ion đồ


    bạn có biết gì về ion đồ không? nếu biết chỉ mình với.

  5. #5
    hoanganh_89
    Guest

    Default


    mình không biết, bạn có thể hỏi thầy cô bên BM Sinh Hoá để có thông tin.

  6. #6
    hoanganh_89
    Guest

    Default


    [1.3] A pregnant woman is able to transfer oxygen to her fetus because fetal hemoglobin has a greater affinity for oxygen than does adult hemoglo- bin. Why is the affinity of fetal hemoglobin for oxygen higher?
    A. The tense form of hemoglobin is more prevalent in the circulation of the fetus.
    B. There is less 2,3-BPG in the fetal circulation as compared to maternal circulation.
    C. Fetal hemoglobin binds 2,3-BPG with fewer ionic bonds than the adult form.
    D. The Bohr effect is enhanced in the fetus.
    E. The oxygen-binding curve of fetal hemoglobin is shifted to the right.

  7. #7
    hoanganh_89
    Guest

    Default


    ANS: C. In adult hemoglobin 2,3-BPG binds to ionized residues in the interface between the two B-chains (beta - chain), thus decreasing the oxygen affin- ity. The B-chains of fetal hemoglobin have fewer ionized residues in the corresponding interface and bind 2,3-BPG with less affinity, which allows for a greater binding affinity for oxygen.

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    listening to "Con mua mua dong" - Le Hieu

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