Things you are bad at Flashcards by Amanda Beach

aPTT reflects which pathway

intrinsic

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findings in coags for anticardiolipin or lupus anticoagulant

prolonged aPTT that remains prolonged after mixing studies

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Most common cause of newborn hyperammonemia

urea cycle defect

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ammonia high, normal pH and bicarb

urea cycle defect

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which CAH is associated with hypertension

11 B hydroxylase

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most common Congenital adrenal hyperplasia

21 hydroxylase

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what type of hypersensitivity reaction is serum sicknesss

type 3 reaction.

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delivery room temperature

22-26 C (72-78 F)

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5-8 year old with cranual nerve palsy and ataxia acute onsetn

brainstem glioma

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presentation medullblastoma

morning headache, vomiting, lethargy due to hydrocephalus

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which vitamin deficiency is seen in neonatal seizures refractory to AEDs

vitamin B6

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what lab test diagnosis juvenile dermatomyostisit

CK elevation, aldolase elevation, LD elevation or AST ALT elevation

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liver tumor with elevate AFP

hepatoblastoma

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what isTay Sachs disease

defect in ganglgioside metabolism

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inheritance of tay sachs disease

autosomal recessive

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signs of tay sachs disease

progressive neurological deterioration with loss of vision, stmaina and muscle tone. cherry red spot on retina

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signs of niemann pick disease

hepatosplenomegaly, ataxis, dysarthria and dyphagia

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what deficiency causes gaucher disease

glucocerebrosidase

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signs of gaucher disease

hepatosplenomgealy spasticity and seizures

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signs of x linked adrenoleukodystrophy

male, developmental regression, spasticity and NO hepatosplenomegaly

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characteristics of benign epilepsy with centrotemporal spikes

facial numbness, twitching, gluttural vocalizations, drooling, dysphasia, difficulty with speech

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how does duchenne musuclar dystorphy present on physical exam in shoulders

upward displacement of shoulders and abnormal lateral rotation of scapula

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which clotting factors are inhibited by warfarin

Factors 2,7,9,10 Protein C and S

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Fanconi syndrome is what type RTA

Type II

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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