CIS Flashcards

1
Q

how does Losartan help Marfan pts?

A

down regulates TGFbeta

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2
Q

mutated fibrillin leads to not binding TGFbeta leads to what

A

extra growth, why they are tall

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3
Q

What cancer is associated with Down syndrome

A

acute myeloid leukemia with megakaryocytic maturation

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4
Q

meconium illeus

A

cystic fibrosis

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5
Q

fetal hydrops with neck edeam, coarctation of the aorta, dysgenesis of the ovary, and horseshoe kidney

A

Turner syndrome

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6
Q

tissue paper cytoplasm, Jewish, skeletal muscle, bone and spleen, no CNS

A

Gaucher disease type 1

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7
Q

oligohydraminos, bilateral lung hypoplasia, multicystic dysplasia of kidneys

A

Potter’s sequence

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8
Q

tumor around adrenal gland of kidney ddx

A

Wilms tumor vs neuroblastoma

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9
Q

Homer-Wright Pseudorossettes

A

Neuroblastoma

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10
Q

double minutes and deletion at chromosome 1p32

A

Nmyc oncogene highly amplified

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11
Q

Nmyc amplification is

A

bad

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