Endo/GI Flashcards

1
Q

14 month old infant, failure to thrive, developmental delay, macrocitic anemia….high OROTIC ACID in urine…?

A

Hereditary Orotic Aciduria - disease of de novo pyrimidine synthesis.

Defect in UMP synthetase.

Supplement with Uridine.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Pt with sign of HIV immunosuppresion, with esophegeal scope showing hyperemic esophagus/linear ulcerations….what bug/virus ?

A

CMV - major clue was LINEAR ULCERATIONS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Man with fatigue, rash, abd cramps, flushing… Maculopap rash, biopsy of skin show mast cells positive for KIT (CD 117), what else is likely to be found?

A

KIT associated with systemic mastocytosis - proliferation of mast cells.

Increased HISTAMINE leads to increased ACID SECRETION by parietal cells.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Where are Parietal Cells located in stomach?

A

Gastric Fundus and Body. Pale pink, disc shaped cells in the UPPER GLANDULAR LAYER.

Pernicious anemia, autoimmune gastritis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Catecholamines, TNF alpha, Glucagon, etc induce insulin resistance by what mechanism?

A

Activation of serine kinase, which prevents autophosphorylation of tyrosine kinase and phosphosphorylation of IRS.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Question about a pt who reports using herbal supplements/OTC diet supplement. What should you do?

A

Shit all over supplement (i.e. explain that they are poorly regulated and have side effects)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What should happen to PaCO2 in a pt with DKA?

A

It should go DOWN. Pts with DKA should compensate with a respiratory alkalosis (Kussmaul).
If you dont see this on the ABG then could indicate RESPIRATORY FAILURE due to altered mental status.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Pt with 46-XY karyotype, phenotypically female, HIGH BP, which is the enzyme defect?

A

17 alpha hydroxylase.

Leads to increased mineralocorticoids and glucocorticoids.

But bc 17-hydrox is present in adrenals and gonads you get decreased androgens.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Review TD2 diabetes drugs….!!

A

review

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What would a pt with Adrenal Crisis present with? What do you treat with?

A

Weight loss, fatigue, vomiting, abd pain, HYPERPIGMENTATION (from excess ACTH), HYPOTENSION, HYPOGLYCEMIA.

Treat with corticosteroids (hydrocortisone)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is “porcelain gallbladder”? Associated with increased risk of what?

A

porcelain galbladder is when you get hard, palpable gallbladder, with extensive calcification. Shows up on CT. From chronic cholecystitis.

Associated with increased risk of gallbladder adenocarcinoma.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is Kher Sign?

A

Referred shoulder pain from peritoneal irritation ( ie from pertonitis, hemoperitoneum, Splenic Rupture/lac)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Trauma pt with rigid abdomen, hypotension, tachycardia referred shoulder pain, hiccups…?

A

Splenic Rupture and Hemoperitoneum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is linnitus plastica ?

A

Diffuse, Leathery, hard stomach.

Signet ring carcinoma (Gastric Adenocarcinoma), signet rings from loss of E-cadherin.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Colon adenoma to carcinoma sequence…?

A

Loss of APC (tumor suppressor gene) > Loss of K-Ras (oncogene) > Loss of DCC/P53 (tumor suppressor gene)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Which cell type is responsible for non-caseating granulomas in Chrons?

A

Th1 cells

17
Q

How is Hep B virus involved in virulence of Hep D?

A

Hep B antigen must coat Hep D for it to be able to infect cells

18
Q

Diphenoxylate?

A

mu opioid receptor agonist, slows gut motility, used for diarrhea

19
Q

Thiamine is cofactor for which enzymes?

A

Pyruvate Dehydrogenase, Alpha-ketogluterate dehydrogenase, Transketolase

20
Q

Describe the pathology of Hereditary Hemochromatosis?

A

Aut Recessive. Mutation in HFE Protein. Causes Enterocytes and Hepetocytes to detect FALSELY LOW Fe levels.

21
Q

Which DNA polymerase is involved in removal of RNA primers (I or III)?

A

DNA pol I

pol III does NOT have 5’ to 3’ exonuclease activity

22
Q

Defect in what other enzyme has similar picture to G6PD ?

A

Glutatione Reductase Deficiency (which reproduces the Reduced form of Glutathione)