Things you are bad at Flashcards
aPTT reflects which pathway
intrinsic
findings in coags for anticardiolipin or lupus anticoagulant
prolonged aPTT that remains prolonged after mixing studies
Most common cause of newborn hyperammonemia
urea cycle defect
ammonia high, normal pH and bicarb
urea cycle defect
which CAH is associated with hypertension
11 B hydroxylase
most common Congenital adrenal hyperplasia
21 hydroxylase
what type of hypersensitivity reaction is serum sicknesss
type 3 reaction.
delivery room temperature
22-26 C (72-78 F)
5-8 year old with cranual nerve palsy and ataxia acute onsetn
brainstem glioma
presentation medullblastoma
morning headache, vomiting, lethargy due to hydrocephalus
which vitamin deficiency is seen in neonatal seizures refractory to AEDs
vitamin B6
what lab test diagnosis juvenile dermatomyostisit
CK elevation, aldolase elevation, LD elevation or AST ALT elevation
liver tumor with elevate AFP
hepatoblastoma
what isTay Sachs disease
defect in ganglgioside metabolism
inheritance of tay sachs disease
autosomal recessive
signs of tay sachs disease
progressive neurological deterioration with loss of vision, stmaina and muscle tone. cherry red spot on retina
signs of niemann pick disease
hepatosplenomegaly, ataxis, dysarthria and dyphagia
what deficiency causes gaucher disease
glucocerebrosidase
signs of gaucher disease
hepatosplenomgealy spasticity and seizures
signs of x linked adrenoleukodystrophy
male, developmental regression, spasticity and NO hepatosplenomegaly
characteristics of benign epilepsy with centrotemporal spikes
facial numbness, twitching, gluttural vocalizations, drooling, dysphasia, difficulty with speech
how does duchenne musuclar dystorphy present on physical exam in shoulders
upward displacement of shoulders and abnormal lateral rotation of scapula
which clotting factors are inhibited by warfarin
Factors 2,7,9,10 Protein C and S
Fanconi syndrome is what type RTA
Type II
acid base of Type II RTA
hyperchloremic acidosis with normal anion gap
Which RTA is associated with hyperkalemia, adrenal failure and CAH and DM
type 4
findings associated with type 1 RTA
nephrlithiasis and nephrocalcinosis and urine pH >5.5
what milk has low levels of folate and kida are at risk of folate deficiency
goats milk
what is formed from abnormal budding of tracheal diverticulum in utero
bronchogenic cysts
recurrent URI infections in toddler with now a penumothorax- likely cause
bronchogenic cysts that ruptured and caused pneumothorax
tapered beak like distal esophagus and loss of peristalsis
Achalasia
what does esophageal manometry show for achalasia
increased lower esophageal pressure
inheritance chronic granulomatous disease
x linked recessive
what is the test for someone with recurrent skin infections, pneumonias and episodes lymphadenitis usually from S aureus
dihydrorhodamine oxidation test for Chronic granulomatous disease
How to calculate fluid deficit 5% 10kg child
.05 x mL of weight (10kg=10,000mL).
cut off hemoglobin A1c for DM2 treatment with insulin
8.5 and greater
urine anion gap in GI diarrheal illness
negative urine anion gap
the measurement of very long chain fatty acids diagnose what
peroxisomal disorders
21 hydroxylase deficiency presentation in infancy
weight loss, dehydration, vomiting. Either clitoromegaly or undescended testes.
hypoNa and hyper K
phos and Ca levels in vit D deficient rickets
both are low
Ca and phos and PTH levels in someone with hypoparathyroidisme
low PTH, low CA and high Phos
what electrolyte abnormality causes skin to feel doughy
hypernatremia
findings with 11B hydroxylase deficiency in boy
increased penile growth with pubic hair. No growth in testicular size
blood pressure in 11b hydroxylase deficiency
hypertension
acid base of ethylene glycol ingestion
high anion gap metabolic acidosis with elevated osmolol gap
anorexia can lead to what electrolyte abnrmality that is important for cardiac function
hypokalemia
other than proteinuria what lab abnormality is present with idiopathic nephrotic syndrome
elevated triglycerides and cholesterol
listeria outbreaks are associ with eating what
uncooked hotdogs and goat cheese
serum vs urine levels of copper in wilson disease
low serum. high urine
pierre robin sequence is seen with which genetic condition
stickler syndrome
midface hypoplasia, cleft palate, pierre robin sequence, abnormalities of eye and hearing loss
stickler syndrome
additional screening test after diagnosing myasthenia gravis
CT chest to evaluate for thymoma or thymic hyperplasia
FeNA in renal AKI
greater than 2%
FeNA is prerenal AKI
less than 1 %
what is elevated in Maple syrup urine disease
isoleucine, leucine and valine
screening for child with history congenital diaphragmatic hernia repair
XR annually
where is cobalamin absorbed
terminal ileum
diagnosis of graves is with what test
thyrotropin receptor antibody
rapid correction of hyponatremia can cause what
pontine demyelinosis
rapid correction of hypernatremia can cause what
cerebral edema from fluid shift into the cells
pill ingestion symptoms dilated pupils, hypotension and drowsiness? also what is cure?
TCA ingestion. give Nabicarb
pheochromocytomas are associated with which genetic conditions
von hippel lindau, NF1, MEN type 2
taysachs is deficient in what
beta hexosaminidase A deficiency
taysachs vs gaucher
taysachs has regression around 3-6 months and spasticity. Gaucher will have hepatosplenomgealy and anemia + thrombocytopenia. BOTH have cherry red spots
Negative Predictive Value
True negative divided by true negative+false negative
postitive predictive value
true positive divided by true positive+false positive
treatment epididymitis
ceftriaxone +doxy or ceftriaxone+azithro
hydronephrosis wihtout ureteral dilation
ureteropelvic junction obstruction
unilateral hydronephrosis with dilaterion of distal ureter without bladder distention
ureterovesical obstruction
hydronephrosis with thickened bladder and dilatered posterior urethra
posterior urethral valves
eye finding in NF2
posterior subscapular lens opacity
how to diagnose a fatty acid oxidation disorder
plasma acylcarnitine profile
urine ketones and urinary reducing substances in fatty acid oxidation disorder
both are negative
what are the amino acid metabolism disorders
PKU, tyrosinemia and MSUD
ketoacidosis and hyperammonemia tells you its what type disorder
organic acidemia
very long chain fatty acids diagnose what
peroxismal disorders like zellweger
MCAD an LCAD are what
fatty acid oxidation disorders
mutation for primary ciliary dyskinesia
DNAH11
small tonsils and immunodeficiency
x linked agammaglobulinemia- humoral deficiency
diuretic use chronically is associate with what abnormality on labwork
hyperuricemia
