UWorld Questions

Question 1

Xeroderma Pigmentosa

Answer 1

Autosomal Recessive
Defective Nucleotide Excision Repair
Deficiency in UV-Specific Endonuclease
Severe photosensitivity, hyperpigmentation in sun exposed areas, increased risk of skin cancer

Question 2

Henoch-Schonlein Purpura

Answer 2

IgA Immune Complex Vasculitis

Question 3

Macroorchidism, large jaw, intellectual disability

Answer 3

Fragile X Syndrome

Question 4

Short stature, hypotonia, intellectual disability, obesity

Answer 4

Prader Willi Syndrome

Microdeletion affecting the paternal chromosome 15q11-13 region

Question 5

Promotion of Atherosclerotic Plaques (migration of smooth muscle cells from media into the intima)

Answer 5

Platelet-derived growth factor from:

1. Platelets
2. Endothelial Cells
3. Macrophages

Question 6

Methylmalonic Acidemia

Answer 6

Autosomal recessive
Deficient in Methylmalonyl-CoA Mutase
Elevated urine methylmalonic acid and propionic acid
Ketotic Hypoglycemia, Metabolic Acidosis, Hyperammonemia

Question 7

Proopiomelanocortin (POMC)

Answer 7

ACTH
MSH
Beta-Endorphins

Question 8

Transtentorial (uncal) herniation

Answer 8

Compression of CN3

Question 9

AV Shunts

Answer 9

Increase Preload
Decreased Afterload
High Output Cardiac Failure

Question 10

Sublingual Nitroglycerin

Answer 10

Venodilation
Decrease in left ventricular end-diastolic volume and wall stress
Decreased myocardial oxygen demand

Question 11

Neonatal Intraventricular Hemorrhage

Answer 11

Fragile Germinal Matrix

Question 12

Cromolyn and Nedocromil

Answer 12

Mast-cell stabilizing agents, inhibit mast cell degranulation
Used for allergic rhinitus and bronchial asthma

Question 13

Muddy Brown Casts

Answer 13

Acute Tubular Necrosis - Proximal tubules and thick ascending loop of henle

Question 14

Carotid Sinus Massage

Answer 14

Stimulates baroreceptors ,increases parasympathetic tone, inhibits SA nodal activity