Review with Explanations
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Term
Correct splicing is dependent on the spliceosome recognizing a
______ _.
A point mutation in this has what effect?
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,pelvic nerve plexus
pelvic parasympathetic nerves of the pelvic plexus function to excite and
contract the detrusor muscle of the bladder via muscarinic ACh receptors
sympathetic nerves mediate relaxation of the internal urethral sphincter via
alpha 1 adrenergic receptors, leading to normal urination
collagen
prolyl hydroxylase
can lead to scurvy due to impaired collagen synthesis
--> weakness of blood vessel walls due to collagen and connective tissue
deficiency
- swollen bleeding gums
- easy bleeding and bruising
- petechiae
- impaired wound healing
- fragile curly hair
*should not be confused with hemophilia
G-U-A-A-G
A point mutation in DNA (i.e. changing a guanine to an adenine) may
mask a splice site and either cause an intron to remain in the final mRNA
product erroneously or cause a larger region of pre-mRNA to be spliced,
leading to removal of an exon
esophageal varices secondary to retrograde flow through the portosystemic
anastomosis between the left gastric and azygous veins
this results in esophageal varices, which are dilated submucosal blood vessels
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, 2 of 160
Term
How do you calculate prevalence?
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total # cases / total # people
total # people / total # cases
in the at-risk population
total # cases / total # people in the
total # deaths / total # cases
general population
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3 of 160
Term
Melanocytes are dendritic cells located in the epidermis basal
layer and are derived from ____________
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neural crest paraxial mesoderm
surface ectoderm notochord
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4 of 160
Definition
created by a translocation between chromosomes 9 and 22,
leading to constitutive activation of the ABL1 tyrosine kinase
(places next to BCR leading to constitutive activation)
activation of the ABL1 tyrosine kinase leads to subsequent
activation of the JAK/STAT and Ras/MAPK/ERK pathways, with the
downstream consequences of increased cellular proliferation,
inhibition of normal checkpoint inhibition, and resistance to
apoptosis
required for diagnosis of CML
but can also be found in ALL and AML
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Howell-jolly bodies Ringed sideroblasts
Philadelphia chromosome Reed-sternberg cells
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