Cell Biology Diseases II

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rtolly
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198755
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Cell Biology Diseases II
Updated:
2013-02-08 09:18:09
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Diseases Cell biology Med school Block II
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Cell Biology Diseases Block II
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  1. Patient comes in your office with physical characteristics of a small stature, large head, low nasal bridge, prominent forehead, lumbar lordosis. Biological he has problems with tyrosine kinase receptors. Also he does have a mutation with FGFR3 gene. In observation you realize he has short limbs, maybe from a failure of cartilage cell proliferation at the epiphyseal plates of the long bone. On just his observations and biological report what would you assume the patient suffers from?


    Achondroplasia - short-limb dwarfism
  2. Patient comes in your office with symptoms of lower back pain and complaints of possibly a cyst in the kidney area. Biological he has problems with tyrosine kinase receptors. Also he does have a mutation in protein polycystin-1 gene (PKD1), essential in the formation of calcium channels associated with primary cilium in the developing kidney. On just his symptoms and biological report what would you assume the patient suffers from?
    Adult Polycystic Kidney Disease
  3. A Male patient comes in your office with physical characteristics of slow loss of muscle control, muscle degeneration, and loss of fine motor control. Biological he has inherited connexin protein mutation of gene Cx32.  On just your observations and biological report what would you assume the patient suffers from?
    Charcot-Marie-Tooth Disease
  4. Patient comes in your office with complaints of continous watery diarrhea. Biological reports show cholera toxin in which GS signaling is disrupted, cAMP evels high, and lots of salts. On just his observations and biological report what would you assume the patient suffers from?
    Cholera Toxin
  5. Patient comes in your office with physical characteristics of a growth failure, premature aging, increased sensitivity to sunlight, and impaired nervous sensitivity. Biological lab reports show he has a mutation in CSB gene and a defection in transcription-coupled DNA repair. This is causing the wrong proteins to be expressed. On just his observations and biological report what would you assume the patient suffers from?
    Cockayne's Syndrome
  6. Patient comes in your office with early signs of abnormality in development of islet autoantibodies when blood glucose concentrations (ability to maintain normal blood glucose levels after sugar ingestion, glucose tolerance, but insulin response to glucose are normal.  However this period is followed by a phase of decreased glucose tolerance but normal fasting blood glucose concentration. Over the past few years loss of insulin reserves have occurred. On just his observations of insulin what would you assume the patient suffers from?
    Diabetes Type I
  7. Patient comes in your office after having lab reports of his insulin mechanism tested and the reports show Insulin-dependent diabetes mellitus caused by autoimmune destruction of islet beta cells in the pancreas. The destuction of islet beta cells causes insulin deficiency  and thereby dysregulation of anabolism and catabolism, resulting in metabolic changes similar to those observed in starvation. From these reports what would you assume the patient to have?
    Diabetes Type I
  8. A patient has gone through three clinical phase:
    I. First the plasma concentration remains normal despite elevated blood levels of insulin, indicating that the target tissues for insulin action appear to be relatively resistant to the effects of the homorme.
    II. Second, Postprandial Hyperglcemis develops despite elevated insulin concentrations.
    III Third, declining insulin secretion causes fasting hyperglycemia
    What do these phases lead you to believe the patient has?
    Diabetes Type II
  9. Patient comes in your office with lab reports of metabolic dysregulation resulting from islet beta-cell dysfunciton and insulin resistance causing atherosclerosis, peripheral neuropathy, renal disease, cataracts, and retinopathy. The patient complains about frequent urination, very thirsty, unexpected weight loss, and fatigue. On just his observations and biological report what would you assume the patient suffers from?


    Diabetes Type II
  10. A 4yr old male patient comes in your office with physical characteristics of slowly progressive muscle weakness, pseudohypertrophy of calf, and trouble raising from ground. Biological he has no dystrophin. Also his creatine kinase has increased. On just his observations and biological report what would you assume the patient suffers from?
    Duchenne's Muscular Dystrophy
  11. A 11 yr old male patient comes in your office with physical characteristics of a slowly progressive muscle weakness, pseudohypertrophy of calf, and trouble raising from the ground. Biological he has abnormal dystrophin. On just his observations and biological report what would you assume the patient suffers from?
    Beckers Muscular Dystrophy
  12. Patient comes in your office with physical characteristics of fragile skin, hyperextensible, hypermobile joints, dislocations, varicose veins, and aterial ruptures. Biological he has mutations in collagen genes and lysine hydroxylase. These hydroxylysine is needed to form triplets/collagen fibers. On just his observations and biological report what would you assume the patient suffers from?
    Ehlers-Dahlos Syndrome
  13. Patient comes in your office with blistering of the skin complaining that heat makes it worse. Biologically the patient has a mutant in keratins and collagen. This is disrupts anchoring at junctions (hemidesmosome). What would you expect the patient to have?
    Epidermolysis Bullosa Simplex
  14. A male patient comes in your office with physical characteristics of mild retardation, coarse facial features, and machroorchidism (big balls). Biological he has 220 CGG repeats in 5' untranslated region. Also he does have a mutation with FMR1 gene. The hypermethylation of 5' untranslated regions seems to be shutting off FMR1 transcription. On just his observations and biological report what would you assume the patient suffers from?


    X-Linked Dominant Disease
  15. If a patient comes into your office and your lab reports show that they have a mutation in BRCA1 and BRCA2 gene, what would you tell them they have?


    Hereditary Breast and Ovarian Cancer
  16. If a defective BRCA gene cannot bind ATM in cell-cycle arrest pathway, what type of Breast cancer do they have?
    • Type 1
    • Hereditary Breast Cancer
  17. If a defective BRCA cannot bind RAD51 during critical recombination pathway, what type of Breast  cancer do they have?
    • Type 2
    • Hereditary Breast Cancer
  18. Which gene BRCA1 or BRCA2 doesn't cause Ovarian Cancer?
    BRCA2
  19. Which disease has a high rish for colorectal cancers, GI tract cancers, and urogenital tract cancers due to the mutations in genes encoding proteins for DNA mismatch repair like MLH2, MSH2, MSH6?
    Hereditary Nonpolyposis Colon Cancer (HNPCC)
  20. Patient comes in your office with physical characteristics of premature aging.  He does have a mutation with LMNA gene. In observation you realize he has loss of hair, cardiovascular problems, scleroderma-like skin, and abnormal growth. On just his observations and biological report what would you assume the patient suffers from?
    Hutchinson-Gilford Progeria
  21. Patient comes in your office with symptoms of reduced mucous clearance from the lungs. Biological he has is sterile and have reversal of organs. Mutations are found in the axonemal dynein arms of the flagella. In his medical history you notice recurrent respiratory infections and hearing loss. On just his observations and biological report what would you assume the patient suffers from?
    Kartagener's Syndrome
  22. Patient comes in your office after having a diasterous surgery. He explains how the anesthetic gases and the drug succinylcholine made his fever elevate, muscles contraction and have attendant hypercatabolism.  Anesthesiologist report him having increased levels of ionized calcium in sacroplasm after exposure to succinylcholine. From lab reports you notice he has a mutation in the ryanodine receptor 1 gene. On just his observations and biological report what would you assume the patient suffers from?
    Malignant Hyperthermia
  23. Patient comes in your office with physical characteristics of thin, elongated fingers, myopia, mitral prolapse, and hypermobile joints. Also he does have a mutation with fibrillin gene. On just his observations and biological report what would you assume the patient suffers from?
    Marfan Syndrome
  24. A 8month male patient comes in your office with physical characteristics of pectus evcavatum (midline depression in bony thorax), skin laxity on the neck, steel like hair with lightly pigmented, umbilical hernia, distinctive facial features, and failure to thrive. Biological he has problems with tyrosine kinase receptors. Lab reports show mutations in the copper-transporting ATPase gene, ATP7A. Also the lysyl oxidase is affected. On just his observations and biological report what would you assume the patient suffers from?
    Menkes Syndrome
  25. Patient comes in your office with physical characteristics loose joints, low muscle tone, triangular face, and hearing loss. Biological he has problems with producing enough collagen. In observation you realize he has a blue tint to his eyes, sclera. On just his observations and biological report what would you assume the patient suffers from?
    Osteogenesis Imperfecta Type I
  26. A mother comes in for a monthly sonogram of her fetus, which you have been keeping a close eye on due to abnormal lungs. In this sonogram you realize the baby has numerous fractures, severe bone deformity, and small stature. From a invivo lab report you notice missense mutation within the genes of collagen. Due to the sonogram observations and the invivo lab reports you conclude the baby has?


    Osteogenesis Imperfecta Type II
  27. An elderly male patient comes in your office with physical characteristics of swollen, bleeding gums, joint stiffness, loose teeth, pinpoint hemorrhages around hair follicles, fatigue, and wounds slowing healing. Biological he has been vitamin C deficient for 20 days.  On just his observations and biological report what would you assume the patient suffers from?
    Scurvy
  28. Patient comes in your office with physical characteristics of multiple facial angiofibromas, mental retardation, hypopigmented macules, and periungual fibromas. Biological he has problems with cardiac rhabdomyoma and reported seizures. Also he does have a mutation with TSC2 gene. From his medical history report you notice reports of renal lesions and neurologic deficits. On just his observations and biological report what would you assume the patient suffers from?
    Tuberous Sclerosis
  29. Patient comes in your office with physical characteristics of short stature, webbed neck, low posterior hairline, and broad chest with widely spaced nipples. Upon observation he seems above average intelligent but social cognition skills are poorer. Within the patients charts you see reports of renal and cardiovascular anomalies, and gonadal dysgenesis. On just his observations and biological report what would you assume the patient suffers from?


    Turner syndrome
  30. When delivery a baby girl you notice she has edema of the dorsum of the foot. You decided to do a quick ultrasound of the heart and observe coarctation of the aorta. What should you diagnosis this baby girl with?


    Turner Syndrome
  31. Patient comes in your office with complaints of a continous cough and not being able to sleep. Biological he has problems with Gi no longer inhibint adenyl cyclase and continous stimulation. On just his observations and biological report what would you assume the patient suffers from?
    Whooping Cough
  32. Patient comes in your office after close laboratory observations of her blood. Biological she has platelets undergoing changes in shape. Assumptions are made that she cannot produce funcitonal WASP. She has reported to you before of not being able to create scabs and has huge brusies. On just her observations and biological report what would you assume the patient suffers from?
    Wiskott-Aldrich Syndrome
  33. Patient comes in your office with complaints of sun sensitivity to the extend of blistering every since they were a child. Biologically her nucleotide excision repair doesn't work correctly in XP. In observation you realize she has dry skin and poikiloderma (constellation of hyper/hypo pigmentation, atrophy, telagiectasia). On just her observations and biological report what would you assume the patient suffers from?


    Xeroderma Pigmentosum
  34. Patient comes in your office with MRI reports showing 2 large kidneys with multiple large cysts. After doing lab reports on the kidneys it is concurred that the genes PKD1 and PKD2 are mutated. You also notice that cilium mechanoreceptor function is disrupted due to mutation of the polycystin-1. On just her observatioins and biological report what would you assume the patient suffers from?


    Adult Polycystic Kidney Disease

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