Board Qs Flashcards Preview

Board Review > Board Qs > Flashcards

Flashcards in Board Qs Deck (602)
Loading flashcards...
1

Wernicke-Korsakoff

Wernicke: oculomotor dysfunction, ataxia, encephalopathy; mamillary bodies; alcoholics; thiamine (B1) def
Korsakoff: chronic deficiency = amnesia, confabulation, apathy

2

Fragile X

Fragile X syndrome is caused by an increased number of CGG trinucleotide repeats on the fragile X mental retardation 1 (FMR1) gene on the long arm of the X chromosome.  This leads to hypermethylation and inactivation of FMR1; macroorchidism, large jaw, intellectual disability

3

Huntington disease

CAG repeat on chromosome 4 caused by looping and repair during replication, unequal crossing over during meiosis

4

Friedreich's ataxia

FXN gene encoding for frataxin (GAA)
stumbling, childhood kyphoscoliosis, hammertoes, pes cavus, dysarthria, nystagmus

5

direct bilirubin disorders

Rotor (NML liver histology, elevated total urine coproporphyrin) and Dubin Johnson (black liver, NML total coproporphyrin)

6

SCID

recurrent infections, FTT, diarrhea
ADA deficiency

7

William Syndrome

elfin face, hypercalcemia, developmental delay, well-developed skills, cardiac issues

8

encephalopathy secondary to liver cirrhosis pathophys

ammonia is metabolized in liver > when it's not, it causes swelling in the brain > somnolence, asterixis (hand-flapping tremor), coma

9

Kartagener

AKA primary ciliary dyskinesia
AR
defect in dynein
chronic resp infections, recurrent OM, infertility, situs inversus (point of maximal impulse may be on right), bronchiectasis

10

presentations of SCD

vaso-occlusive crisis (dactylitis most often)
stroke (pediatric)
acute chest syndrome (fever, chest pain, hypoxemia, resp distress)
splenic sequestration (SM, decreased Hb, thrombocytopenia)

11

Lesch Nyhan

XL
deficiency of HGPRT
developmental delay, self-mutilation, gout, choreiform movements

12

Lassa fever

arenaviridae (grains of sand appearance on EM) > 2 segmented ambisense ssRNA genome; hemorrhagic fever (pharyngitis, cough, N/V/D, myalgia, retrosternal chest pain, back pain, abd pain; face swelling, pulm edema, mucosal bleeding ,hypotension, deafness if severe

13

adenovirus

swimming pool conjunctivitis (fever, sore throat, coryza, red eyes, pharyngitis)

14

Hartnup

def in tryptophan > precursor to niacin (B3) > pellagra (4 Ds = dermatitis, diarrhea, dementia, death)

15

how do you decrease type II error?

increase power by increasing sample size or decreasing variability

16

carcinoid syndrome

secretes high levels of serotonin; hydroxyindoleacetic acid (5-HIAA) is metabolite of serotonin found in urine of these pt

Presentation: wheezing, diarrhea, flushing, right-sided valvular lesions (esp tricuspid regurg)

17

DIC

low platelets, low plasminogen, high PT (activation of both coagulation and fibrinolytic system > excessive consumption of clotting factors and platelets)

18

ITP

low platelets, elevated bleeding time, NML PT, PTT; idiopathic meaning there's not really anything besides low platelets and high bleeding time consequently to tell you anything

19

VWD

NML platelets, high bleeding time and PTT (VIII stabilized by vwf)

20

vitelline duct abnormalities

persistent vitelline duct (fistula) = meconium discharge from umbilicus
Meckel diverticulum = most common
vitelline sinus
vitelline duct cyst

21

West Nile

fever, headache, rash, neuroinvasive sx (Parkinsonian, asymmetric flaccid paralysis)

22

where are lipophilic drugs (like anesthesia) absorbed quickly?

Well-vascularized tissue > brain, kidney, liver, lungs, heart

delayed distribution in skeletal m, bone, fat

23

chronic bronchitis most commonly caused by...

smoking

24

type I pneumocytes

form alveolar capillary barrier with endothelial cells

25

Reye pathophys

aspirin use during viral infxn > mitochondrial toxicity > impaired FA metabolism > microvesicular fat deposits in liver > hepatic dysfunction > hyperammonemia > diffuse astrocyte swelling (cerebral edema)

26

sirolimus MOA

binds FKBP that inhibits mTOR to stop IL-2 signaling

27

cyclosporine and tacrolimus MOA

binds cyclophilin or FKBP (respectively) which then inhibits calcineurin and stops IL-2 gene transcription

28

what can't use ketones in the body?

RBCs

29

+ membrane potentials

Na or Ca

30

- membrane potentials

K or Cl