GI

Question 0

Which has higher risk of congenital defects: duodenal atresia v. Jejunal atresia?

Answer 0

Duodenal atresia (think of association with trisomy 21)

Question 1

Intussussception age of presentation:

Answer 1

2 months to 5 years (peak between 4-10 months)

Question 3

Signs of Vitamin C deficiency:

Answer 3

(Ascorbic Acid) Follicular hyperkeratosis, gingival bleeding, normocytic anemia, poor wound healing, brittle bones

excess: oxalate and cysteine stones

Question 4

Lab manifestations of rickets:

Answer 4

Low calcium, Low phosphorous, High alk phos, high PTH and low vitD (Vit D def) vs nl vitamin D with Vit d resistant

delayed fontanelle closing, frontal bossing, widened physes of wrists and ankles, leg bowing, rachitic rosary

Question 5

Manifestations of vitamin E deficiency:

Answer 5

(Tocopherol) Neurological dysfunction, loss of reflexes, (hemolytic anemia in preterm infants), peripheral edema, thrombocytosis

excess: liver toxicity

Question 5

Copper deficiency manifestations:

Answer 5

In preterm infants or XL recessive (Menkes) -> neutropenia, hypo chromic anemia, mimics metabolic bone disease

Question 6

Most common pills that cause pill induced esophagitis:

Answer 6

Doxycycline, aspirin, NSAIDs, slow release potassium

Question 7

B vitamins and manifestations:

Answer 7

B1 (Thiamin): beri beri-paresthesias, foot drop. Wernicke encephelopathy-opthalmoplegia, ataxia, HF, long QT (gastric bypass) (dx: transketolase activation test)

B2 (Riboflavin): cheilosis, sore tongue, photophobia. *Premies on prolonged phototx at risk

B3 (Niacin): pellagra - dermatitis, diarrhea and dementia

B5 (Pantothenic Acid)

B6 (Pyridoxine): FTT, oxaluria, b6 dep sz, neuropathy (on INH)

B9 (Folate): macrocytic anemia (goats milk)

B12 (Cyanocobalamin): megaloblstic anemia (pernicious anemia, vegan)

Biotin

Question 8

What usually causes Menetrier disease?

Answer 8

CMV infection-> swollen, redundant gastric folds->PLE

Question 9

H. Pylori treatment:

Answer 9

PPI + clarithromycin + amox/flagyl x 2 weeks

Question 10

What syndrome is Zollinger Ellison associated with?

Answer 10

ZE is a gastronoma and 25% will have MEN 1 (hyperparathyroidism, adrenal tumors)

Question 11

What is Hartnup disease?

Answer 11

Congenital defect of free neutral amino acid transport -> pellagra like sx

Question 12

What is Lowe syndrome?

Answer 12

Defect of arginine and lysine transport -> MR, cataracts, hypotonia, vitamin D resistant rickets

Question 13

When does zinc deficiency present?

Answer 13

Autosomal recessive, presents after weaning from breast milk (bm has missing zinc binding factor)

Question 14

What organism causes Whipple disease?

Answer 14

Tropheryma whippelii (gram positive actinomycetes) -> diarrhea, fever, serositis, CNS symptoms

Question 15

What is typhilitis?

Answer 15

Inflammation of cecum seen in neutropenics, immunodeficient. Can progress to gangrene, perforation.

Question 16

What is the inheritance pattern of Peutz-Jeghers syndrome?

Answer 16

Autosomal dominant, variable penetrance

Question 17

What is Caroli disease?

Answer 17

Congenital dilation of larger segmental intra-hepatic bile ducts -> present in adolescence with recurrent cholangitis and abscesses

Question 18

What is Alagille syndrome?

Answer 18

AD with paucity of small intrahepatic ducts. Associated with: peripheral pulmonary a stenosis, butterfly vertebrae, posterior embryotoxon, abn radius/ulna

Question 19

Who is hepatitis E bad for?

Answer 19

High risk of fulminant hepatitis in third trimester of pregnancy.

Question 20

Lab findings in Wilson disease:

Answer 20

Low ceruloplasmin
Elevated 24 hr urinary copper (even more elevated after penicillamine)
Increased copper on liver biopsy

Question 21

How does PFIC1 present?

Answer 21

Progressive familial intrahepatic cholestasis 1-> conjugated hyperbili, pruritis, diarrhea, fat malabsorption with KADE deficiencies. Later cirrhosis

Question 22

What liver findings are oral contraceptives associated with?

Answer 22

Hepatic vein thrombosis (budd chiari) and liver adenomas

Question 23

Diagnosis of autoimmune hepatitis:

Answer 23

Type I: ANA + anti-smooth muscle
Type II: antiLKM1
Type III: anti-SLA

+ elevated LFTs and hypergammaglobulinemia

Question 24

What is primary sclerosing cholangitis associated with?

Answer 24

IBD, ANCA positive

Question 25

What is the best test to confirm the diagnosis of PSC?

Answer 25

ERCP->alternating strictures and dilation, beading

Question 26

What is aagenaes syndrome?

Answer 26

AR d/o in Norwegian lineage. Severe cholestasis + LE lymph edema that gradually improves

Question 27

Most common malignant liver tumor and elevated lab test found with it:

Answer 27

Hepatoblastoma, serum alpha-fetoprotein

Question 28

What is the first line therapy for giardiasis? Alternate therapies?

Answer 28

Tinidazole or nitazoxanide. Alt: flagyl, medendazole.

Question 29

term and preterm kcal, protein requirements

Answer 29

premies-3.5 g/kg/day protein, 120 kcal/kg/day

term-2-2.5 g/kg/day protein, 100 kcal/kg/day

Question 30

Vitamin K deficiency

Answer 30

(Phylloquinone) hemorrhagic disease of NB, Tx active bleeding with Vit K and FFP.
Vit K dep cofactors 2, 7, 9, 10

Question 31

renal solute load components

Answer 31

sodium, potassium, chloride, phosphorous - not calcium

Question 32

essential fatty acid deficiency

Answer 32

scaly dermatitis, alopecia, thrombocytopenia

tx: IV lipids with focus on linoleic acid

Question 33

colostrum vs mature milk

Answer 33

Colostrum higher in protein/immunoglobulins/carotene,
less fat/ lactose/calories,
same minerals

Question 34

breast milk vs cow’s milk

Answer 34

BM more lactose/whey/iron absorption/lipase
less phosphorous/Vit K/Vit D/protein
same Vit ABC

Question 35

most common complication of NG feeds

Answer 35

diarrhea, 2nd is reflux
continuous feeds better: GERD, crohns, malabsorptive syndrome, CHD
bolus feeds: oral motor discoordination

Question 36

Syndrome associated with pancreatic insufficiency, nostril hypoplasia or agenesis, cardiac defects, deafness, hypothyroidism, and GU defects

Answer 36

Johanson-Blizzard Syndrome

Question 37

causes of hydrops of gallbladder

Answer 37

Kawasaki disease, Strep pharyngitis, prolonged fasting, TPN, and HSP

Question 38

liver biopsy performed on a patient who has jaundice and elevated aminotransferase values reveals eosinophilic concretions in the intrahepatic bile ducts. What is diagnosis

Answer 38

CF
Other GI manifestations:
Hematemesis is usually related to esophageal varices, a complication of liver disease/cor pulmonale.Stool elastase is a good test of pancreatic insufficiency along with 25-OH Vit D level, PT, Vitamin A & E levels.Pancreatic enzyme replacement at higher doses can result in fibrosing colitis.