Mock QE Study Guide Flashcards
(113 cards)
what enzyme is deficient with lesch nyhan
hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency
what builds up in the blood in a patient with lesch nyhan
uric acid
lesch nyhan is associated with what clinical presentations
gout, poor muscle control, moderate developmental delay, kidney problems, involuntary and repetitive movements, and self mutilating behaviors
HPRT deficiency is associated with what vitamin deficiency? what is the result of this?
B12 deficiency –> megaloblastic anemia
- large red blood cells with inner contents not completely developed
- less cells and die earlier = anemia
williams syndrome is a result of what (genetically)?
deletions of 26-28 genes on chromosome 7
what personality is associated with william’s syndrome?
cocktail personality (outgoing)
what are the facial features associated with william’s syndrome?
broad forehead
puffiness around the eyes
flat bridge nose
full cheeks
small chin
what dental problems are associated with william’s syndrome
small teeth
spacing
missing
what heart problems are associated with williams syndrome
supravalvular aortic stenosis (SVAS)
coronary artery stenosis
*increased risk with general anesthesia –> cardiac arrest
why are patients with william’s syndrome more at risk for arteriopathy
it is an elastin disorder where less elastic vascular walls lead to arteriopathy
what is the mechanism of action of nitrous oxide
inhibition of the NMDA receptor to excitatory glutamate
stimulation of GABA receptor
is nitrous oxide soluble or insoluble?
relatively insoluble
what are the contraindications to nitrous oxide
current respiratory tract infection, recent middle ear surgery, pregnancy, methylenetetrahydrofolate reductase deficiency, vitamin B12 deficiency
what is the rate of cancer
1 in 300 kids get cancer
80% 5 year survival rate
which syndrome is a risk factor for cancer
down syndrome
what is the most common cancer in kids
ALL
what is the most common cancer in teens
hodgkin lymphoma
leukemia has a higher incidence in what racial group
white children
when is ALL typically diagnosed
2-4 years old
what is the 5 year survival rate of ALL
90%
how is ALL treated
4-6 week induction, months of chemo, 2-3 years of maintenance
transplant for high risk cases or recurrence after remission
when is AML diagnosed
1 and teens
what is the survival rate of AML
64%
what is the treatment of AML
induction chemo, CNS prophylaxis, post-remission therapy
transplant for high risk cases