Tulane (Block Exam)

Question 1

Familial adenomatous polyposis gene and locus

Answer 1

APC; 5q21

Question 2

Juvenile polyposis gene(s) and locus

Answer 2

SMAD4, BMPR1, ENG; 18q21.1

Question 3

Wilson’s disease mutation

Answer 3

ATP7B

Question 4

Inflammatory Hepatocellular Adenoma mutation

Answer 4

Activating mutation in gp130 (encodes IL-6 coreceptor…)

Question 5

beta-Catenin Hepatocellular Adenoma gene

Answer 5

CTNNB1

“CaTeNiN Beta-1”

Question 6

Laboratory signs of cirrhosis

Answer 6

Incr. bilirubin
Decr. albumin
Thrombocytopenia (and prolonged INR)
Incr. ferritin

Question 7

Hereditary hemochromatosis genetics

Answer 7

HFE on chromosome 6p (C282Y mutation most common)

Question 8

Describe conditions necessary for Campylobacter jejuni growth

Answer 8

Fastidious: 42 degrees C, microaerophilic environment (blood or charcoal to reduce oxygen)

Question 9

Plummer-Vinson syndrome symptoms

Answer 9

Esophageal webs, iron deficiency anemia, dysphagia, beefy red tongue (d/t atrophic glossitis)

Question 10

Dubin-Johnson syndrome gene

Answer 10

MRP2

Question 11

Progressive Familial Intrahepatic Cholestasis gene

Answer 11

ATP8B1

Question 12

Number 1 drug-related cause of cholestasis

Answer 12

Ampicillin/Augmentin (all abx common cause)

Question 13

Cholestatic pattern of LFTs

Answer 13

Alk phos 4-5x greater than AST, ALT (but all elevated)

Question 14

Conditions associated with congenital biliary atresia

Answer 14

Congenital heart disease, polysplenia, bowel malrotation

Question 15

Behcet’s syndrome symptoms

Answer 15

Aphthous and genital ulcers, uveitis

Question 16

Gross appearance of Barrett’s esophagus

Answer 16

“Salmon-colored” look (nonspecific)

Question 17

Location of cancer types in the esophagus

Answer 17

SCC in upper 2/3; adeno ca in lower 1/3

Question 18

Fasciola hepatica treatment

Answer 18

Bithionol, triclabendazole, nitazoxinide

Question 19

Ruptured ovarian cyst presentation

Answer 19

RLQ pain radiating to the buttocks (could be either side)

Question 20

Cause of curling ulcers

Answer 20

Severe burns or trauma

Question 21

Cause of Cushing ulcers

Answer 21

Elevated ICP (vagal stimulation incr. gastric acid secretion)

Question 22

What is responsible for glucose absorption in the small intestine

Answer 22

SGLT1

Question 23

What is responsible for fructose absorption in the small intestine

Answer 23

GLUT5

Question 24

Haplotype common in Celiac disease patients

Answer 24

HLA DQ 2/8

Question 25

Rome criteria for IBS

Answer 25

Recurrent and pain with at least 2 of the following: - improvement with defecation - change in frequency - change in appearance of stool

Question 26

Drugs that can cause pancreatitis

Answer 26

- Azathiprine (immunomodulator for IBD) - Estrogen - Dideoxyinosone (HIV med) - Valproic acid (for psych/neuro diseases)

Question 27

What is Cullen's sign? What is it indicative of?

Answer 27

C-shaped darkening around umbilicus; pancreatitis

Question 28

Which comorbidity predisposes renal and GI side effects of NSAIDs?

Answer 28

Diabetes

Question 29

Nonbilious vomiting characteristic of what

Answer 29

Congenital pyloric stenosis

Question 30

ETEC virulence factors

Answer 30

``` - Heat Labile & Stable Toxins HLT – same mechanism as cholera toxin HST – same mechanism as cholera toxin except cGMP instead - Adhesins – pili, fimbriae - LPS – causes fever - Capsule ```

Question 31

Dysentery triad

Answer 31

Tenesmus, abdominal cramps, bloody + mucoid stools (also ulcers and abscesses though)

Question 32

Microsporidia diagnostic tests

Answer 32

Chromotrope (trichrome) stain; Uvitex 2b/calcafluor (fluorescence); spores in stool

Question 33

Entamoeba histiolytica diagnostic test(s)

Answer 33

Copro antigen rapid test

Question 34

Common causes of Short Bowel Syndrome

Answer 34

NEC, (midgut) volvulus, atresias, gastroschisis, Hirschsprung's

Question 35

Mucoepidermoid carcinoma genetics

Answer 35

Balanced (11;19) translocation (q21;p13) creates fusion gene between CRTC1 (aka MECT1) and MAML2