NeoReviews

Question 1

What complications of meconium ileus are more likely in patients who do NOT have CF than those who do?

Answer 1

Prematurity or growth restriction, intrauterine perforation leading to meconium peritonitis

Question 2

When can sweat testing be performed?

Answer 2

On an infant weighing >2 kg and who is at least 36 weeks corrected gestational age

Question 3

What are the diagnostic criteria for cystic fibrosis?

Answer 3

Elevated IRT (immunoreactive trypsinogen) in newborn screen OR signs/symptoms suggestive of CF OR positive family history in a parent or sibling

AND
Sweat chloride concentration >60 or identification of 2 CF causing mutations in the trans position

Question 4

When might the immunoreactive tyrpsinogen be falsely normal?

Answer 4

In patients with meconium ileus

Question 5

Features of Noonan Syndrome

Answer 5

LEOPARD: multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, plmonary stenosis, abnormal genitalia, growth retardation, and sneorineural deafness

Question 6

Mutation in Noonan syndrome with mutliple lentigines

Answer 6

Autosomal dominant disorder causes by mutations in protein tyrosine phosphatase PTPN11 gene or RAF1 gene, which are both part of the RAS/MAPK pathyway

Question 7

When do you treat bacterial meningitis for longer than 21 days?

Answer 7

For complicated bacterial meningitis, defined as the presence of ventriculitis, subdural effusion, subdural empyema, or brain abscess