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NICU Board Review > GI > Flashcards

GI Flashcards

1
Q

What does the Paneth cells secrete?

A

Defensins

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2
Q

Pathophysiology of duodenal atresia

A

Failure of recanalization 8-10 weeks

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3
Q

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

A

Volvulus with malro

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4
Q

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

A

Ileum

Most likely associated with NEC

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5
Q

Which is the most common atresia?

A

Jejunal/ileal -50% of atresias

If gastroschisis MC to ileal atresia

Type III apple peel atresia, short intestinal length

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6
Q

Abdominal distension in an IDM, filling defects. Dx

A

Meconium plug

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7
Q

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

A

CF

Meconium ileus

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8
Q

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

A

Hirschsprung’s disease

Short segment is most common 75% (sigmoid colon)

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

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9
Q

The placenta removes biliverdin T/F

A

False. Removes bilirubin

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10
Q

Which bilirubin crosses BBB?

A

Free unconjugated bilirubin

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11
Q

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

A

Gilbert (decreased activity) and CN (absent)

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12
Q

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

A

Neonatal idiopathic hepatitis

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13
Q

What is GALD?

Tx?

A

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

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14
Q

Associated syndromes with omphalocele

A

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

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15
Q

What happens at the terminal ileum

A

Active transport of Vit B12 and bile salts

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16
Q

What stimulates Paneth cells

A

Bacteria and bacterial components (lipopolysaccharude and lipoteichoic acid)

17
Q

MC developmental malformation with complex CDH

A

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

18
Q

Hemochromatosis

A

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

19
Q

What is WAGR syndrome

A

Wilms tumor
Aniridia
GU abnormalities
Retardation

20
Q

What is VACTREL

A 
Vertebral anomalies 
Anorectal malform
Cardiac 
Tracheo esophageal defects 
Renal anomalies
21
Q

What is a promising biochemical marker for NEC?

A

I FABP (urinary intestinal fatty acid binding protein)

Increased in neonates with NEC

22
Q

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

A

TRUE

23
Q

What organs are spared of iron deposition in GALD

A

Spleen
Lymph nodes
Bone marrow

24
Q

What organs are affected by iron deposition in GALD

A 
Pancreas
Thyroid
Heart ♥️
Adrenal glands
Salivary glands (biopsy is safer and diagnostic)
25
Q

Hormone most impt in regulating intestinal transit

A

Glucagon-like 2 peptide

Also impt in intestinal adaptation

26
Q

Which is the most associated anomaly that affects survival

with esophageal atresia

A

♥️

Cardiac

27
Q

How is Allagîlle syndrome inherited?

A

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
28
Q

Markers seen with NEC

A

Increase in proteobacteria
Decrease in firmicutes (stool)

Fecal microbiotia is decreased

29
Q

Name the syndrome:

CDH, abnormal fascies

A

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

30
Q 
Coagulopathy
Hypoglycemia
Increased NH4, 
Increased ferritin 
Decreased albumin

What do these presenting signs indicate?

A

GALD

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

31
Q

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

A

Glutamine

32
Q

Describe triad seen with Schwachman Diamond syndrome

A

Bone marrie failure (neutropenia, pancytopenia)
Pancreatic dysfunction
Récurrent infection

Skeletal anomalies (metaphyseal dysostosis and thoracic dystrophy)

Increased rusk

NICU Board Review (19 decks)

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