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57 Cards in this Set

  • Front
  • Back
chronic myeloid leukemia
c-ABL and BCR fusion gene --> unregulated tyrosine kinase acitivity.
neuroblastoma and Burkitt lymphoma
overexpression of MYC.
Mutation in Cyclin D
Activate CDK4 + CDK6
Phosphorylate Retinoblastoma protein
Release EF2
G1 --> S phase
Stimulate cell growth
Example of point mutation
Ras proto-oncogene.
Example of chromosomal rearrangement mutation.
Burkitt Lymphoma (c-MYC translocate close to proximity to the Ig heavy chain gene)

Myelogenous leukemia (c-ABL + BCR fusion)
Example of gene amplication that convert protooncogene --> oncogenes.
c-ERB2 in breast cancer.
CDK 4 + MYC
growth promoting genes
BCL2
anti-apoptosis gene
BAX
apoptosis gene.
miRNA in tumorigenesis
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)
APC gene
Tumor Suppressor Gene
Colon Cancer
Mutated APC can't degrade Beta-cantenin in cytoplasm --> cell proliferation.
Neurofibroma type 1 gene (NF-1)
Tumor Suppressor Gene
Loss of NF-1 impair conversion of GTP-bound ras to GDP-bound ras.
Cause of hereditary nonpolypopsis colon cancer (HNCC)
mutated hMSH2 and hMLH1 genes

DNA mismatch repair not working
Cause of xeroderma pigmentosum (skin cancer due to UV light)
defected nucleotide excision repair gene (ERCC)
Vascular endothelial growth factor
basic fibroflast growth factor
angiostatin
endostatin
vasculostatin
tumor angiogenic factor.
definition of "differentiation antigens"
antigens are expressed in some normal cells and in cancer derived from such tissues.
MAGE-1 gene
Tumor specific shared antigens

Expressed on many tumor cells, but not on any normal tissues.
Examples of paraneoplastic syndromes
Endocirnopathies
Hypercalcemia (most common)
Acanthosis nigricans
Thrombotic diatheses
Histologic Grading of Tumors
degree of differentiation
number of mitoses
UICC Clinical Staging of Tumors.
T (1-4)
N (1-3)
M (1-2)
AJC Clincal Staging of Tumors
0-IV
size of pirmary lesion, presence of nodal spread, and distant mestatses
hyaluronidase, streptokinase, coagulase
toxins that act outside the cell
hemolysin, leukotoxin, lecithinase
toxins that act at the cell surface
plasmodium in RBC
Leishmania in macrophages
Giardia lamblia in intestine
protozoas
diphtheria toxin
blocks protein protein synthesis by ADP-ribosylation of EF-2 subunit.

Death by asphysiation and hemorrahge

Attack respiratory cells
infant botulism
floppy baby syndrome

honey + nonacidic digestive juice of infants + warm body temperature + anaerobic environment = ideal medium for botulinism spores to grown and produce toxin.
liver like consistent lung lobe.
bacterial pneumonia
HACEK group of bacteria is responsible for what disease?
Endocarditis.
Poor dental hygeine isassociated with what disease?
Endocarditis
Symptoms of endocarditis
necrosi of fingers
heart mumur
stroke
Marasmus
insufficient calories
Affect somatic protein compartment
muscle wasting
growth retardation
head appears too large for the body.
Kwashiorkor
protein malnutrition
affect visceral protein compartment
Hypoalbuminemia --> generalized edema
damaged kidney.
Vitamin B12
folate metabolism and DNA synthesis
Vitamin C
hydroxylation of collagens
Folic Acid
nucleic acid synthesis
Fetal hypoxia is associated with what?
Smoking
heat cramps
loss of electrolytes through sweating.
heat exhaustion
failure of cardioovascular system to compensate for hypovolemia
heat stroke
failure of thermoregulator mechanism, sweating ceases, core body temperature reise.
Repeated associated siRNA (rasiRNA)
Transcriptional silencing
scnRNA
scan and eliminate DNA
ex. of deletion mutation
glycosyltransferase gene (ABO blood group)
ex. of replacement mutation
sickle cell anemia
beta-thlassemia
ex. of 3 base deletion mutaiton
cystic fibrosis
deletion of phenylalanine
not a frameshift mutation.
ex. of 4 base insertion mutation
Tay-Sach (lipid storage disorder)
Tay-Sach
Lipid storage disorder
4 base insertion in HEXA gene
Accumulation of ganglioside in brain.
hypercholesterolemia
autosomal dominant disorder
autosomal recessive disorder
lysosomal storage disorder
glycogenoses
ex. of sex-linked (x-linked disorder)
hemophilia (inability to cloth blood).
Factor 8 + 9 deficiency
Vitamin D - Resistant Rickets
X-linked DOMINANT disorder.
Fragile X syndrome
CGG repeats
Triple repeat mutation
Leber Hereditary Optic Neuropathy
Mutations in the mitochondiral genes
Prader Willi Syndrome
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.
Chromsomal (Cytogenic) Disorder due to...
Number of chromosome
Structure of chromosomes
Turner's Syndrome
Monosomy
Down Syndrome
Trisomy 21
caput succedaneum
birth injury

accumulation of interstitial fluid in the soft tissue of the scalp.