Missed Uworld Topics

Question 1

Things that cause reactive arthritis

Answer 1

Salmonella, shigella, campylobacter, and chlamydia

Question 2

Ataxia, telengiectasia, and sinopulmonary infections

Answer 2

Ataxia-telengiectasia

Question 3

Deficient NADPH Oxidase enzyme –> cant do oxidative burst.

Answer 3

Chronic Granulomatous Disease

Question 4

Congenital Heart disease, Dysmorphic Facies, hypocalcemia, absent thymic shadow

Answer 4

DiGeorge Syndrome

Question 5

Severe bacterial and viral infections in infancy, chronic diarrhea, mucocutaneous candidiasis

Answer 5

Severe combined immunodeficiency

Question 6

Recurrent Neisseria infections

Answer 6

Terminal Complement deficiency

Question 7

Thrombocytopenia = easy bleeding; Eczema; Recurrent infection that worsen with age

Answer 7

Wiskott-Aldrich syndrom

Question 8

Lyst gene defective -> lysosomal trafficking protein; microtubule dysfunction; phagolysome formation problem;

Answer 8

Chediak-Higashi Syndrom

Question 9

Increase in AFP

Answer 9

Open Neural tube defect, ventral wall defect, multiple gestations,

Question 10

Decrease in AFP

Answer 10

Trisomy 18 and 21

Question 11

Insufficient production of mature B cells; recurrent infections w/ encapsulated pyogenic bacteria. T cells not affected x-lined (bruton’s) agammaglobulinemia

Answer 11

x-lined (bruton’s) agammaglobulinemia

Question 12

Defect in LFA-1 (CD18)

Answer 12

Leukocyte adhesion deficiency. Cant do rolling or adhesion

Question 13

Severe bacterial and fungal infections, granuloma formation

Answer 13

Chronic Granulomatous Disease

Question 14

Late separation of umbilical cord, absent pus, dysfunctional neutrophils -> increased neutrophils in blood

Answer 14

Leukocyte adhession deficiency

Remember LAD

Question 15

Defect in WASP Gene

Answer 15

Wiskott-Aldrich Syndrome
Wasp gene defect; Antigen presenting cell dysfunction b/c of gene defect
WATER

Question 16

pancytopenia; progressive neurological dysfunction; oculocutaneous albinism; pyogenic infections

Answer 16

Chediak-Higashi Syndrom

Question 17

Homogentisic Acid Dioxygenase defect

Answer 17

Alkaptonuria

Question 18

Severe arthritis with deposits in large joints and spine causing ankylosis and significant pain

Answer 18

Alkaptonuria

Question 19

Blue-black deposits in cartilage (especially ear) and sclerae

Answer 19

Alkaptonuria

Question 20

Vertical Nystagmus

Answer 20

Amphetamine toxicity

Question 21

N-acetylcystine

Answer 21

reducing agent for asprin toxicity. replenishes glutathione

Question 22

Chromosome with CFTR Gene

Answer 22

Chromosome 7

Question 23

Pataue Chromosome

Answer 23

Chromosome 13

Question 24

Edwards Chromosome

Answer 24

Chromosome 18

Question 25

Prader willie and Angleman Chromosome

Answer 25

Chromosome 15

Question 26

Night blindness, acanthocytosis, ataxia

Answer 26

Abetalipoproteinemia

Question 27

Abetalipoproteinemia gene mutation

Answer 27

mutation in MTP Gene, AR

Question 28

What lipoproteins are absent in abetalipoproteinemia

Answer 28

Chylomicrons, VLDL, LDL

Question 29

What apolipoproteins are deficient in abetalipoproteinemia

Answer 29

B48 and B100