GI

Question 1

What does the Paneth cells secrete?

Answer 1

Defensins

Question 2

Pathophysiology of duodenal atresia

Answer 2

Failure of recanalization 8-10 weeks

Question 3

Baby with features of Cornelia de Lange with abdominal distention and emesis. Dx?

Answer 3

Volvulus with malro

Question 4

Xray with football sign in preterm. Where is the MC location of perforation?

Answer 4

Ileum

Most likely associated with NEC

Question 5

Which is the most common atresia?

Answer 5

Jejunal/ileal -50% of atresias

If gastroschisis MC to ileal atresia

Type III apple peel atresia, short intestinal length

Question 6

Abdominal distension in an IDM, filling defects. Dx

Answer 6

Meconium plug

Question 7

Microcolon with enema that has filling defects. What do you test for?

Answer 7

CF

Meconium ileus

Question 8

Abdominal distension with Increased acetylcholine staining on tissue biopsy. Diagnosis?

Answer 8

Hirschsprung’s disease

Short segment is most common 75% (sigmoid colon)

Associations: T21, heterochromia? Waardenburg syndrome, 13q deletion, neurofibromatosis, neuroblastoma

Question 9

The placenta removes biliverdin T/F

Answer 9

False. Removes bilirubin

Question 10

Which bilirubin crosses BBB?

Answer 10

Free unconjugated bilirubin

Question 11

Which syndrome is associated with
decreased activity of glucuronyl transferase
and lead to elevated indirect bilirubin?

Answer 11

Gilbert (decreased activity) and CN (absent)

Question 12

Multinucleated giant cells on liver biopsy and direct hyperbilirubinemia. Dx?

Answer 12

Neonatal idiopathic hepatitis

Question 13

What is GALD?

Tx?

Answer 13

Gestational alloimmune liver disease

Assoc’d with iron depisition and multi organ failure

Maternal Alloimmune (IgG) attacks fetal hepatocytes

Immune mediated - mat ab crossing placenta

Tx - In uteto IVIG

Question 14

Associated syndromes with omphalocele

Answer 14

Pentology of Cantrell
Beckwidth Weideman
OEIS (omphalocele, extrophy of bladder, imperforate anus, spinal disorder

MC (genetic abnormality) seen with aneuplody (T13, 18, 21) - 35-60% of all omphalocele

Question 15

What happens at the terminal ileum

Answer 15

Active transport of Vit B12 and bile salts

Question 16

What stimulates Paneth cells

Answer 16

Bacteria and bacterial components (lipopolysaccharude and lipoteichoic acid)

Question 17

MC developmental malformation with complex CDH

Answer 17

Cardiac (60%)
Renal (23%)
GI (17%)

Question 18

Hemochromatosis

Answer 18

Severe liver disease accompanied by iron accumulation in liver AND extra hepatic locations

(Consequence of fetal liver injury-
Phenotypic expression of liver injury initiated (for example) by GALD

Recurrence risk approaches 90% in pregnancies subsequent to the index case

Question 19

What is WAGR syndrome

Answer 19

Wilms tumor
Aniridia
GU abnormalities
Retardation

Question 20

What is VACTREL

Answer 20

Vertebral anomalies 
Anorectal malform
Cardiac 
Tracheo esophageal defects 
Renal anomalies

Question 21

What is a promising biochemical marker for NEC?

Answer 21

I FABP (urinary intestinal fatty acid binding protein)

Increased in neonates with NEC

Question 22

T or F
The fetal intestine DOES respond to bacterial components (ie - lipopolysaccharide) more robustly than does the mature intestine

Answer 22

TRUE

Question 23

What organs are spared of iron deposition in GALD

Answer 23

Spleen
Lymph nodes
Bone marrow

Question 24

What organs are affected by iron deposition in GALD

Answer 24

Pancreas
Thyroid
Heart ♥️
Adrenal glands
Salivary glands (biopsy is safer and diagnostic)

Question 25

Hormone most impt in regulating intestinal transit

Answer 25

Glucagon-like 2 peptide | Also impt in intestinal adaptation

Question 26

Which is the most associated anomaly that affects survival | with esophageal atresia

Answer 26

♥️ | Cardiac

Question 27

How is Allagîlle syndrome inherited?

Answer 27

AD Mutation in JAGGED 1 or NOTCH 1 ``` Presents with: Neonatal cholestasis ♥️ - MC pulmonary stenosis Ocular posterior embryotoxin Renal anomalies Vascular anomalies (intracranial- 12%) Short ```

Question 28

Markers seen with NEC

Answer 28

Increase in proteobacteria Decrease in firmicutes (stool) Fecal microbiotia is decreased

Question 29

Name the syndrome: | CDH, abnormal fascies

Answer 29

Fryns Syndrome AR CDH with abnormalities of the fingers and toes; distinctive facial features Usually dont survive neonatal period

Question 30

``` Coagulopathy Hypoglycemia Increased NH4, Increased ferritin Decreased albumin ``` What do these presenting signs indicate?

Answer 30

GALD Also see - inc alpha feto protein, thrombocytopenia (due to increased iron) and inc TB/DB

Question 31

What is the primary substrate used by enterocytes for intestinal adaptation?

Answer 31

Glutamine

Question 32

Describe triad seen with Schwachman Diamond syndrome

Answer 32

Bone marrie failure (neutropenia, pancytopenia) Pancreatic dysfunction Récurrent infection Skeletal anomalies (metaphyseal dysostosis and thoracic dystrophy) Increased rusk