CFTR channel actively secretes Cl- into lungs and GI tract, and actively reabsorbs Cl- from sweat. misfolded protein-\>retained in RER-\> dec Cl (and H2O) secretion-\>inc intracell Cl-\> compensate inc Na reab via epi Na channels-\> inc H20 reab-\> abnrl thick mucus and negative transepi potential diff, bronchiectasis
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kid w/ abdominal pain, nausea, bilious vomiting
midgut volvulus
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midgut volvulus dx modality
upper GI series
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jejunal atresia dx and association
triple bubble sign
maternal cocaine use
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duodenal atresia dx and association
double bubble sign
Down's syndrome
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intussusception tx
air enema
no barium!!
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meckel's diverticulum v intussusception
meckel's w/ painless bleeding
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necrotizing enterocolitis presentation
premie baby who feeds too early then later has rectal bleeding
XR: pneumocystis intestinalis (air in intestinal wall)
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criggler najjar cause and lab
deficiency in glucornyl transferase --\> unconjugated hyperbili
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most common nephrotic syndrome, histo?
MCD
histo: podocyte foot process effacement
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most common hypercoagulable state in nephrotic syndrome
renal vein thrombosis\= sudden onset flank pain
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encapsulated organisms mnemonic
please SHiNE MY SKiS Pseudomonas Strep pneumo H flu Neisseria E coli MYcoplasma Salmonella Klebsiella gbS
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TTP: mnemonic for symptoms
FAT RN Fever Anemia Thrombocytopenia Renal Neuro
too much VW factor\= increased plt adhesion--\> blocks up arteries --\> shistocytes
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uremia manifestations
pericarditis HUS plt dysfunction
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alport syndrome sx
hematuria and deafness
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RTA type 1
1 letter\= can't excrete H+
kidney stONEs
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RTA Type 2
2 letters\= Bi
Bicarb
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RTA Type 4
4 letters\= aldo
hypoaldosterone *HyperK
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posterior urethral valves\-- when to suspect? dx?
oligohydramnios boy who was just born and hasn't urinated
dx: VCUG
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high pH kidney stone
proteus\= struvite stones
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Wernig-Hoffman disease
looks like botulism but has been present since birth
angiomyolipoma= benign renal neoplasm composed of fat, vascular, and smooth muscle
\ \
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sumatriptan MOA
serotonin agonist
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Cytoalbuminologic dissociation
GBS
\= high protein in the cerebrospinal fluid without many (usually less than 6) white blood cells
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tx for GBS
IVIG and plasmapheresis
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Duchenne muscular dystrophy v becker's
duchenne\= happens earlier and can't survive
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baby only drinking cow milk --\>
vit D deficiency
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baby only drinking goat milk --\>
folate deficiency
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vWD labs
increased bleeding time since PLT don't stick
increased PTT
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wilms tumor v neuroblastoma
wilms WILL not cross
neuroblastoma will cross w/ dancing eyes and dancing feet and flushing
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VACTERL v CHARGE
VACTERL w/ anal atresia
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ewing sarcoma dx
onion skinning
w. small round blue cells
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osteosarcoma dx
codman's angle and sunburst pattern
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osteoid osteoma
lytic bone lesion on bone cortex
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CVID labs
low Ab only
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SCID labs
low B low T low Ab
looks like AIDS
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bruton labs
low B cells XLR inheritance
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CGD presentation
no oxidative burst --\> Cat+ bugs infxn (S aureus, Escherichia coli, Candida, Klebsiella, Pseudo- monas, Aspergillus)
tx: BMT
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chediak higashi
albinism, peripheral neuropathy, neutropenia ↑ Incidence of overwhelming pyogenic infections withS pyogenes, S aureus, and Pneumococcus species giant granules in neutrophils
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rashes that occur on hands
kawasaki KARS kawasaki dz coxsackie A Rickettsia Syphillis
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lupus tx
NSAIDs + hydroxychloroquine
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dermatomyositis presentation and association
weakness + grotton's papules + heliotrope rash
elevated CPK
underlying cancer!!
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lyme dz
amoxicillin
cant use doxy because affects teeth
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down's syndrome GI associations
duodenal atresia hirschsprung dz\= FTPM + bilious vomiting w.i 48h of life
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spondylolysis vs spondylolisthesis
Spondylolysis - Stress fracture of the pars interarticularis - scotty dog - Seen in dancers, gymnasts, lifters
Spondylolisthesis - Vertebral sliding (step-off) - Seen in dancers and gymnasts