May 6

Question 1

What are the symptoms of primary carnitine deficiency?

Answer 1

Muscle weakness, cardiomyopathy, hypoketotic hypoglycemia, elevated msucle TGs

Question 2

Young child with myopathy, cardiomyopathy, hypoketotic hypoglycemia in the setting of decreased muscle carnitine content is seen in what disease?

Answer 2

Primary carnitine def.

Question 3

In primary carnitine deficiency, what metabolic pathway is affected? What are the results of this?

Answer 3

Fatty acid beta oxidation; skeletal and cardiac myocytes are unable to generate ATP from FAs; liver unable to synthesize ketone bodies (eg acetoacetate)

Question 4

What deficiency impairs fatty acid transport from the cytoplasm into mitochondria, preventing beta oxidation of fatty acids into acetyl-CoA?

Answer 4

Carnitine def.

Question 5

Stimulation of beta-2 receptors on the uterus cause what?

Answer 5

Relaxation - tocolysis

Question 6

Alpha 1 stimulation causes what in the eye?

Answer 6

Mydriasis - contraction of pupillary dilator muscle

Question 7

What is the treatment for OCD?

Answer 7

SSRIs; CBT (exposure and response prevention)

Question 8

The middle meningeal artery is a branch of what artery?

Answer 8

Branches from maxillary artery (which is a branch of the external carotid)

Question 9

The middle meningeal artery enters the skull through what opening?

Answer 9

Foramen spinosum

Question 10

What sex is more affected by 17a hydroxylase def?

Answer 10

Males - appear phenotypically female; females develop normal genitalia

Question 11

Patient presents with low-grade fever, maculopapular rash, cephalocaudal progression, and posterior auricular and suboccipital LAD. What is the likely infection?

Answer 11

Rubella

Question 12

Adult women develop what sequale from a rubella infection?

Answer 12

Polyarthritis and polyarthralgia

Question 13

Congenital rubella syndrome is associated with what?

Answer 13

Sensorineural deafness, cataracts, and cardiac malformations (PDA)

Question 14

What is the genome of parvovirus?

Answer 14

Nonenveloped ssDNA virus

Question 15

11 beta hydroxylase results in what symptoms?

Answer 15

Hypertension and hypokalemia early in life; females have ambiguous genitalia

Question 16

What is seen on bx of a chronic renal allograft rejection?

Answer 16

Obliterative intimal thickening, tubular atrophy, and interstitial fibrosis

Question 17

In a patient with sickle-cell disease, there is a massive drop in Hgb with a rapidly enlarging spleen, what s the likely cause? What would be seen on biopsy?

Answer 17

Due to vaso-occulsion within the cords of billroth and splenic pooling of RBCs; see splenic congestion

Question 18

What are the cords of Billroth?

Answer 18

Splenic cords of red pulp

Question 19

Branching pseudohyphae with blastoconidia is seen in the blood of patient with a CVC. What is the likely organism?

Answer 19

Candida

Question 20

What is seen on biopsy of a wheal?

Answer 20

Dermal edema