Thurs Aug 6 Flashcards
Ash-leaf skin patches are characteristic of which disease?
Tuberouls sclerosis
Findings in Sturge-Weber syndrome? (SSTURGGE?)
- Sporadic
- Stain (port wine stain)
- Tram track calcifications
- Unilateral
- Retardation
- Gnaq gene
- Glaucoma
- Epilepsy
how does someone develop Sturge-Weber syndrome?
its NOT hereditary. From a congenital, spontaneous activating mutation of the GNAQ gene - > anomoly of neural crest derivatives
Inheritance of Tuberous sclerolis?
Autosomal dominant
Findings in Tuberous sclerosis? (HAMARTOMASS)
Hamartomas in CNS and skin Angiofibromas Mitral regurgitation Ash-leaf spots Rhabdomyoma Tuberous sclerosis O- autosomal dOminant Mental retardation Angiomyolipomas (renal) Seizures Shagreen patches
cafe au lait spots are characeristic of what disease?
NF1
what is raltegravir?
integrase inhibitor used to treat HIV
which virus causes croup?
parainfluenza
which virus casues bronchiolitis?
RSV
why is brown adipose brown?
it has more mitochondria
A patient receiving chemotherapy is most susceptibel to an infection with pathogens from where?
Endogenous pathogens - breaks in GI tract allow them to enter bloodstream
how does hyperphosphatemia lead to hypocalcemia?
- it binds calicum in the blood and precipitates in soft tissues
- increased serum phosphate triggers the release of fibroblast growth factor 23 from bone, which in attempt to lower phosphate, inhibits 1-alpha hydroxylase, leading to less active 1,25vitD
high serum phosphate triggers the release of which substance from bone?
fibroblast growth factor 23
presentation of disseminated gonorrhea?
Triad of polyarthralgia, tenosynovitis, dermatitis (painless pustules)
which of the DNA polymerases has 5’ to 3’ exonuclease activity?
DNA polymerase I - used to remove primer as goig through and replicating strand