Diseases - Block 2 Flashcards
Hyatidiform moles
cortical granule dysfunction results in polyspermy
polyspermy -> polyploidy (partial hyatidiform moles - non viable)
complete hydatidiform moles are viables but are usually spontaneously aborted in first trimester
hallmarks: ↑↑↑hCG, snowstorm/honeycomb on ultrasound
Dizygotic and monozygotic twinning
Ectopic pregnancy
Situs inversus totalis (kartagener)
mirror image of organ placement (still only 1 organ)
right or left isomerism (asymmetry)
organ is completely symmetrical with either duplication or absence or organ
ivermark’s syndrome
symmetrical liver and asplenia
situs ambiguous (heterotaxy syndrome)
some major visceral organs are distributed abnormally
Neural tube closure defects: posterior neuropore
Neural tube closure defects: anterior neuropore
What diseases are associated with integrin defects?
What is pemphigus?
What are other diseases associated with cellular adhesion molecules (CAMs)?
What is a GPCR? What is the mechanism of how GPCRs work? What are some well-known diseases associated with GPCRs?
What is a disease associated with improper elastic fiber production?
What does mutations in fibronection formation cause?
What is perlecan? What do mutations in perlecan result in?
What are some mutations that disrupt cilia and flagella? What diseases are associated with these mutations?
What happens when a mutant keratin gene causes improper filament network formation?
Describe how apoptosis is affected in follicular lymphoma. (pathway)
