Newborn screening PP

Question 1

CCHD

Ductus arteriousus dependent- shock cx A, C, H

Ductus arteriosus dependent- cyanosis- H, P, T

DA possibly dependent E, T, T

Not dependent T, T

Answer 1

aortic stenosis, coarctation, hypoplastic LHS

HLHS, pulm stenosis, transposition of GA

Ebstein, Tet of Fallot, Tricuspid Atresia

TAPVC, Truncus arteriosus

Question 2

TRECs are a marker for newly produced __

produced by __ of TCR genes

Answer 2

Naive T cells

VDJ recomb

Question 3

ASS def, __ and __ build up
cant produce ___

ASL def, __ builds up
cant produce __ and __

OTC def, __ and __ accumulate
cant produce ___

Answer 3

citrulline/aspartate
argininosuccinate

argininosuccinate
arginine, fumarate

ornithine, carbamoylphosphate
cirtulline

Question 4

GALT aids in the conversion of __ to ___

Answer 4

Galactose 1 Phos, Glucose 1 phos

Question 5

Mucopolysaccharidoses

enzymes def that lead to GAG accumulation
H\_\_
C\_\_ sulfate
K\_\_\_ sulfate
H\_\_ sulfate
D\_\_\_ fulfate

found in ___ in body
form __ and __ adhesion
bind __ to form gels, shock __
regulation __ for __ and __ balance

Answer 5

hyaluronic acid
chondroiton sulfate
keratan
dermatan

every tissue
ECM, cell to cell
water, absorbing
diffusion, water/electrolyte

Question 6

Hurler Syndrome Features
H\_\_
abnormal development of \_\_/\_\_\_
abnormal \_\_
\_\_ distrubance
\_\_ disability

tx w recomb human __
__ transplant

Answer 6

hepatosplenomegaly
cartilage/bone
facies
growth
intellectual

Alpha l iduronidase
hematopoeitic stem cell

Question 7

Tx Pompe w recomb human __

TX XL adrenoleuko
replace ___
__ transplant if eraly

Answer 7

acid alpha glucosidase

CS
hematopoeitic stem cell