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57 Cards in this Set
- Front
- Back
chronic myeloid leukemia
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c-ABL and BCR fusion gene --> unregulated tyrosine kinase acitivity.
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neuroblastoma and Burkitt lymphoma
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overexpression of MYC.
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Mutation in Cyclin D
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Activate CDK4 + CDK6
Phosphorylate Retinoblastoma protein Release EF2 G1 --> S phase Stimulate cell growth |
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Example of point mutation
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Ras proto-oncogene.
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Example of chromosomal rearrangement mutation.
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Burkitt Lymphoma (c-MYC translocate close to proximity to the Ig heavy chain gene)
Myelogenous leukemia (c-ABL + BCR fusion) |
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Example of gene amplication that convert protooncogene --> oncogenes.
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c-ERB2 in breast cancer.
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CDK 4 + MYC
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growth promoting genes
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BCL2
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anti-apoptosis gene
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BAX
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apoptosis gene.
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miRNA in tumorigenesis
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increased of miRNA that target tumor suppressor gene --> reduced tumor suppressor protein (increased translational repression)
decreased activity of miRNA that inhibit translation of oncogene --> increased oncogene proteins (decreased translational repression) |
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APC gene
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Tumor Suppressor Gene
Colon Cancer Mutated APC can't degrade Beta-cantenin in cytoplasm --> cell proliferation. |
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Neurofibroma type 1 gene (NF-1)
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Tumor Suppressor Gene
Loss of NF-1 impair conversion of GTP-bound ras to GDP-bound ras. |
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Cause of hereditary nonpolypopsis colon cancer (HNCC)
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mutated hMSH2 and hMLH1 genes
DNA mismatch repair not working |
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Cause of xeroderma pigmentosum (skin cancer due to UV light)
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defected nucleotide excision repair gene (ERCC)
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Vascular endothelial growth factor
basic fibroflast growth factor angiostatin endostatin vasculostatin |
tumor angiogenic factor.
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definition of "differentiation antigens"
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antigens are expressed in some normal cells and in cancer derived from such tissues.
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MAGE-1 gene
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Tumor specific shared antigens
Expressed on many tumor cells, but not on any normal tissues. |
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Examples of paraneoplastic syndromes
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Endocirnopathies
Hypercalcemia (most common) Acanthosis nigricans Thrombotic diatheses |
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Histologic Grading of Tumors
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degree of differentiation
number of mitoses |
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UICC Clinical Staging of Tumors.
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T (1-4)
N (1-3) M (1-2) |
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AJC Clincal Staging of Tumors
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0-IV
size of pirmary lesion, presence of nodal spread, and distant mestatses |
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hyaluronidase, streptokinase, coagulase
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toxins that act outside the cell
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hemolysin, leukotoxin, lecithinase
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toxins that act at the cell surface
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plasmodium in RBC
Leishmania in macrophages Giardia lamblia in intestine |
protozoas
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diphtheria toxin
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blocks protein protein synthesis by ADP-ribosylation of EF-2 subunit.
Death by asphysiation and hemorrahge Attack respiratory cells |
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infant botulism
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floppy baby syndrome
honey + nonacidic digestive juice of infants + warm body temperature + anaerobic environment = ideal medium for botulinism spores to grown and produce toxin. |
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liver like consistent lung lobe.
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bacterial pneumonia
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HACEK group of bacteria is responsible for what disease?
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Endocarditis.
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Poor dental hygeine isassociated with what disease?
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Endocarditis
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Symptoms of endocarditis
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necrosi of fingers
heart mumur stroke |
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Marasmus
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insufficient calories
Affect somatic protein compartment muscle wasting growth retardation head appears too large for the body. |
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Kwashiorkor
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protein malnutrition
affect visceral protein compartment Hypoalbuminemia --> generalized edema damaged kidney. |
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Vitamin B12
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folate metabolism and DNA synthesis
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Vitamin C
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hydroxylation of collagens
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Folic Acid
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nucleic acid synthesis
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Fetal hypoxia is associated with what?
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Smoking
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heat cramps
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loss of electrolytes through sweating.
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heat exhaustion
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failure of cardioovascular system to compensate for hypovolemia
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heat stroke
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failure of thermoregulator mechanism, sweating ceases, core body temperature reise.
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Repeated associated siRNA (rasiRNA)
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Transcriptional silencing
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scnRNA
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scan and eliminate DNA
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ex. of deletion mutation
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glycosyltransferase gene (ABO blood group)
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ex. of replacement mutation
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sickle cell anemia
beta-thlassemia |
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ex. of 3 base deletion mutaiton
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cystic fibrosis
deletion of phenylalanine not a frameshift mutation. |
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ex. of 4 base insertion mutation
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Tay-Sach (lipid storage disorder)
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Tay-Sach
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Lipid storage disorder
4 base insertion in HEXA gene Accumulation of ganglioside in brain. |
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hypercholesterolemia
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autosomal dominant disorder
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autosomal recessive disorder
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lysosomal storage disorder
glycogenoses |
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ex. of sex-linked (x-linked disorder)
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hemophilia (inability to cloth blood).
Factor 8 + 9 deficiency |
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Vitamin D - Resistant Rickets
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X-linked DOMINANT disorder.
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Fragile X syndrome
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CGG repeats
Triple repeat mutation |
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Leber Hereditary Optic Neuropathy
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Mutations in the mitochondiral genes
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Prader Willi Syndrome
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Genomic Imprinting (uniparental disomy)
deletion of ban q12 in the long arm of chromosome affect the paternally derived chromosome mother's form is only expressed. |
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Chromsomal (Cytogenic) Disorder due to...
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Number of chromosome
Structure of chromosomes |
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Turner's Syndrome
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Monosomy
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Down Syndrome
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Trisomy 21
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caput succedaneum
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birth injury
accumulation of interstitial fluid in the soft tissue of the scalp. |