Nokea
Prenatal diagnosis of affected male fetus with adrenoleukodystrophy is made by:
- A. Elevated MCFA levels in cultured amniocytes
- B. Decreased MCFA levels in chorionic villus cells
- C. Prenatal ultrasonography performed by an expert
- D. Fetal hyperactivity in utero
Correct Answer: A
Rationale: Elevated VLCFA in cultured amniocytes diagnoses adrenoleukodystrophy prenatally (NORD). B-E are not diagnostic.
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What is the risk the fetus will be affected?
- A. 1 in 2
- B. 1 in 4
- C. 1 in 50
- D. 1 in 200
Correct Answer: B
Rationale: Spinal muscular atrophy (SMA) type 2 is autosomal recessive. If the mother’s new partner is a carrier (assuming population risk isn’t specified), the risk is 1 in 4 (Choice B): 25% chance the fetus inherits two mutated SMN1 alleles (50% from each carrier parent). 1 in 2 (Choice A) applies if one parent is affected. 1 in 50 (Choice C) or 1 in 200 (Choice D) suggest unrelated carrier frequencies, not applicable without data. 1 in 4 is standard for recessive inheritance with two carriers.
The responsibility of a mandatory reporter is to:
- A. Report actual abuse to legal authorities
- B. Provide evidence of suspected child abuse to legal authorities
- C. Report actual or suspected abuse to legal authorities
- D. Investigate suspected child abuse
Correct Answer: C
Rationale: Mandatory reporters (e.g., nurses) must report actual or suspected abuse to authorities, as per legal and ethical standards. Reporting only actual abuse misses suspicion, providing evidence exceeds their role, and investigating is for authorities, not reporters.
Immediate priority for a 6-year-old with pneumonia is
- A. Nutrition
- B. Medication
- C. Reassurance
- D. Rest
Correct Answer: D
Rationale: Rest D reduces respiratory demand, per document p18, 4.
A 14-year-old boy appears with tall stature, long limbs, and a heart murmur. Echocardiogram reveals aortic root dilation. Most likely diagnosis is:
- A. Klinefelter syndrome
- B. Marfan syndrome
- C. Growth hormone excess
- D. Hyperthyroidism
Correct Answer: B
Rationale: Marfan syndrome fits tall stature, long limbs, and aortic dilation, per AAP (doc p151, Q606).
In fetal circulation, the pressure is greatest in the
- A. Left ventricle
- B. Right atrium
- C. Pulmonary artery
- D. Aorta
Correct Answer: B
Rationale: Right atrium B has the highest pressure in fetal circulation due to venous return, per document 3.