4/6 - UW 49

Question 1

Avoidant personality order affects at least 4 of these areas:

Answer 1

1. avoid social contact at work
2. avoids intimate relationships
3. needs certainty of being liked
4. preoccupied with rejection
5. new social situations
6. low self esteem
7. avoids risk

Question 2

What 3 gene mutations are associated with early onset Alzheimer’s?

Answer 2

• Amyloid precursor protein (APP): chr21
• Presenilin 1: chr14
• Presenilin 2: chr1

Question 3

What disease is ApoE4 mutation associated with?

Answer 3

Late onset Alzheimer disease

Question 4

What defect is associated with Familial Hypercholesterolemia?

Answer 4

AD mutation in LDL-R

Question 5

What is the molecular defect in Hypertrophic cardiomyopathy?

Answer 5

AD mutation in the BETA-myosin heavy chain

Question 6

What is the most common mutation in Duchenne and Becker muscular dystrophy?

Answer 6

DELETION of the dystrophin gene (which encodes the dystrophin protein on chrX p21)

Question 7

Which muscular dystrophy is more severe, Duchenne or Becker? Why?

Answer 7

Duchenne is more severe, occurs with a frameshift deletion in chrX p21 producing NONfunctional dystrophin protein

Question 8

What sort of deletion of chrX p21 would lead to Becker MD instead of Duchenne?

Answer 8

Deletion that is a multiple of 3, preserving the reading frame for dystrophin protein (truncated by functional)

Question 9

What is the function of dystropin protein?

Answer 9

Connects actin to transmembrane proteins attached to ECM

Question 10

What CV effect does Nitroprusside have?

Answer 10

Short acting, balanced venous AND arterial vasodilator, decreasing LV preload and afterload

Question 11

In what vitamin deficiency can you commonly see “corkscrew” hairs with perifollicular hemorrhage?

Answer 11

Vit C def (impaired collagen hydroxylation)

Question 12

What type of lesion will show a “clasp knife” spasticity (initial resistance to passive extension followed by sudden release)?

Answer 12

UMN lesion

Question 13

What is the insular cortex involved in?

Answer 13

• limbic system (integrating emotion and body state)
• ANS control
• Visceral sensation

Question 14

What disease shows lesions in the caudate nucleus?

Answer 14

Huntington disease

Question 15

What brain defect causes Parkinson’s?

Answer 15

Loss of DAergic neurons in the substantia nigra

Question 16

Where is the lesion in Huntington disease?

Answer 16

Caudate nucleaus

Question 17

What role does the putamen play in movement?

Answer 17

Initiation of movement

Lesions can cause contralateral tremor, bradykinesia, rigidity

Question 18

Damage to which segment (internal/external) of the globus pallidus results in decreased motion/movement? Increased?

Answer 18

External damage: decreased movement

Internal damage: excessive movement

Question 19

What is the term for reversal of shunt flow in cardiac defects?

Answer 19

Eisenmenger syndrome (due to irreversible pulm art sclerosis leading to increased pulm vascular resistance)

Question 20

How does Lactase deficiency lead to diarrhea?

Answer 20

Osmotic diarrhea

Question 21

Why does Lactase deficiency cause decreased stool pH?

Answer 21

Bacterial fermentation of undigested lactose produces short chain FAs and excess H+

Question 22

What is the stool osmotic gap?

Answer 22

290 - 2*(stool Na + K)

Larger gap = more unabsorbed substances = osmotic diarrhea
Smaller gap = secretory diarrhea

Question 23

Why don’t varicose veins cause PE?

Answer 23

Because they’re superficial! Not DEEP vein thrombosis

Question 24

What is Phlegmasia alba dolens?

Answer 24

Painful white leg (“milk leg”) due to iliofemoral venous thrombosis in PREGNANT WOMEN

Question 25

Overexpression of n-myc is seen in what neoplasms?

Answer 25

Neuroblastoma

Small cell carcinoma of the lung

Question 26

What is DRESS syndrome and what is it associated with?

Answer 26

Drug Reaction Eosinophilia and Systemic Symptoms (fever, LAD, facial edema)
- anticonvulsants
- allopurinol
- sulfonamides
- antibiotics
(drug induced herpesvirus reactivation)

Question 27

Which drugs can induce ANCA associated vasculitis?

Answer 27

PTU, Methimazole

Hydralazine (arterial vasodilator)

Question 28

What drugs are associated with microangiopathic hemolytic anemia?

Answer 28

Chemotherapy (cisplatin, cyclophosphamide)

Question 29

Long term Lithium treatment requires monitoring what organs?

Answer 29

Thyroid (TSH)

Kidney (BUN, Cr; nephrogenic DI)

Question 30

What is Kussmaul sign (not Kussmaul breathing)?

Answer 30

Paradoxical rise in JVP on inspiration due to constrictive pericarditis preventing the RV from accommodating increased venous return

Question 31

Ceruloplasmin = ???

Answer 31

COPPER!!!!!!

Question 32

Wilson’s disease tx?

Answer 32

Penicillamine chelation

Question 33

What is the most common appendix tumor?

Answer 33

Carcinoid (after met to liver, can cause wheezing, diarrhea, flushing)

Question 34

What are clinical signs of platelet defect (vW disease or NSAID use)?

Answer 34

Mucocutaneous bleeding (gums, nose, ecchymoses/petechiae)

Question 35

What are the clinical signs of coagulopathy?

Answer 35

Hemorrhage (intramuscular, into joints, after surgery)

Question 36

What does thrombin time measure?

Answer 36

Rate of conversion of fibrinogen to fibrin

Question 37

What are the most common tumor of the pineal gland?

Answer 37

Germinomas (can cause Parinaud syndrome, ie “dorsal midbrain syndrome”: paralysis of upward gaze)

Question 38

A tumor in what location will cause paralysis of upward gaze?

Answer 38

Pineal gland tumor causing Parinaud syndrome (dorsal midbrain syndrome)

Question 39

What is the ‘triad’ of pineal Germinomas?

Answer 39

1. precocious puberty from b-hCG
2. Obstructive hydrocephalus of aqueduct
3. Parinaud syndrome