combank 25qs 12/22/2018

Question 1

Hartnup dz path

Answer 1

Neutral amino acid transport defect which are in intestinal mucosa and renal tubules…can’t synthesize niacin

Question 2

main clinical finding assoc with hartnup dz

Answer 2

cutaneous photosensitivity

Question 3

glutathione synthase deficiency clinical findings

Answer 3

severe metabolic acidosis in first few days of life

jaundice and hemolytic anemia come later with glutathione deficiency

Question 4

homocystinuria clinical findings

Answer 4

normal at birth, then FTT and developmental delay

Question 5

homocystinuria path

Answer 5

deficiency of cystathionine beta synthase

Question 6

Homocystinuria complications

Answer 6

ocular lens sublux, skeletal abnormalities, thromboembolic episodes

Question 7

most common congenital heart dz

Answer 7

perimembranous VSD

Question 8

what are the 4 kinds of VSD

Answer 8

perimembranous
inlet
supracristal
muscular

Question 9

clinical findings associated with a perimembranous VSD

Answer 9

decrescendo murmur, that is hear at lower sternal border. Starting at day 4-5 of life

Question 10

perimembranous VSD path

Answer 10

pulm vasc resistance gradually decreases with life, thus the shunting of blood also increases with life. The murmur heard aortic valve problem d/t VSD.

Question 11

Ebsteins anomaly path

Answer 11

tricuspid valve leaflets got problems (adhere to annulus and endocardium)

Question 12

Ebsteins anomaly etiology

Answer 12

lithium during first trimester

Question 13

Ebsteins anomaly results in

Answer 13

hypoplastic RV, Enlarged RA, tricuspid regurg, redundant anterior tricusp valve leaflet

Question 14

how will a child hold their arm s/p radial subluxation

Answer 14

elbow flexed, close to body

Question 15

tx for radial heaad sublux

Answer 15

pressure on radial head, supinate forearm and flex elbow simultaneously

Question 16

abx for salmonella gastroenteritis

Answer 16

Amp or 3rd ceph

Question 17

how to differentiate venous hum and pathologic murmur

Answer 17

compress jugular vein

Question 18

path of XLA

Answer 18

problem in RTK gene

RTK=receptor Tyrosine kinase

Question 19

immuno deficiency assoc with dna repair enzyme defect

Answer 19

AT

Question 20

immuno deficiency assoc with microtubular dysfunction

Answer 20

Chediak Higashi

Question 21

immuno deficiency assoc with IL-2 R defect

Answer 21

SCID

Question 22

immuno deficiency assoc with NADPH oxidase deficiency

Answer 22

CGD

Question 23

SCFE path

Answer 23

separation of proximal femoral epiphysis through the growth plate…leading to inferior and posterior displacement of femoral head.

Question 24

difference between G6PD acute hemolytic crisis and sickle cell vasoocclusive crisis

Answer 24

both can be d/t infxn… but sickle cell is not likely to have the jaundice and the gall stones

Question 25

mnemonic for kawasaki dz

Answer 25

``` Conjunctivitis Rash Adenopathy strawberry hand (swelling) ``` burn: 5 day fever

Question 26

sturge weber

Answer 26

small vessel vasculitis port wine stain on face AVM's glaucoma