Cramming 2 Flashcards
What intracellular structure do mebendazole and thiabendazole target?
microtubules
What anti-fungal targets microtubules?
Griseofulvin
What anti-breast cancer drug targets microtubules?
Paclitaxel
Remind me again of the primary defect in Chediak-Higashi syndrome? What were the three primary manifestations?
Microtubule dysfunction preventing fusion of phagosome and lysosome. Recurrent pyogenic infections, partial albinism, and peripheral neuropathy.
What do peroxisomes degrade?
very long chain fatty acids and aa’s
Defects in structural genes are more commonly inherited in what inheritance pattern?
AD
Defects in enzymes are more commonly inherited in what inheritance pattern?
AR
Achondroplasia results from a defect in _______?
fibroblast growth factor 3 (FGF 3)
What is the primary defect in familial hypercholesterolemia?
defective or absent LDL receptor
Give me a DD of 3 (non-infective) diseases for MI before age 20.
familial hypercholesterolemia, hypertrophic cardiomyopathy, and homocystinuria
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) causes telangiectasias, recurrent epistaxis, skin discoloration, and _______.
Arteriovenous malformations
What neurotransmitters are reduced in the brain in Huntington’s disease?
GABA and ACh
What chromosome is the CAG repeat of huntington’s located on?
4 (Hunting 4 food)
What sort of aortic damage cause dissecting aortic aneurysms in Marfan’s people?
cystic medial necrosis
MEN 2A and 2B are associated with the _______ gene.
ret
What is von Recklinghausen’s disease?
NF-1! cafe-au-lait spots, neural tumors, Lisch nodules (hamartomas in iris)
What are the typical manifestations of NF-2?
bilateral acustic neuromas and juvenile cataracts
What type of Abx against Psuedomonas would you give to a cystic fibrosis pt?
fluoroquinolones
Inheritance pattern and primary defect in Bruton’s agammaglobulinemia.
X-linked recessive; Bruton’s Tyr kinase -> stunted B-cell differentiation
How do you Dx Duchenne’s muscular dystrophy?
Increased CPK and muscle biopsy
Genetic abnormality in Cri-du-chat syndrome?
deletion of short arm of chromosome 5 (5p-)
What is the genetic abnormality in Williams syndrome?
(7q-)
Genetic abnormality and Sx of DiGeorge Syndrome or Velocardiofacial syndrome?
CATCH-22 (22q11 deletion) Cleft palate Abnormal facies Thymic aplasia Cardiac defects Hypocalcemia
Which branchial pouches are malformed in DiGeorge or velocardiofacial syndrome?
3rd and 4th
