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.
You may also like to solve these questions
A 3-month-old infant presents with tachypnea and poor feeding. Chest x-ray shows cardiomegaly and pulmonary edema. Most likely diagnosis is:
- A. Pneumonia
- B. Congestive heart failure
- C. Bronchiolitis
- D. Cystic fibrosis
Correct Answer: B
Rationale: CHF shows cardiomegaly and edema, per AHA. A, C-E differ.
A 3-year-old girl presents with recurrent ear infections and hearing loss. Tympanometry shows flat curves. Most likely diagnosis is:
- A. Acute otitis media
- B. Otitis media with effusion
- C. Cholesteatoma
- D. Mastoiditis
Correct Answer: B
Rationale: OME causes flat tympanometry, per AAP. A, C-E differ.
The nurse is explaining to a 17-year-old female the actions to prevent urinary tract infection. The nurse determines the adolescent understands the information when she says a good drink to keep urine acidic is:
- A. Milk
- B. Grape juice
- C. Apple juice
- D. Orange juice
Correct Answer: C
Rationale: Apple juice (C) acidifies urine, deterring UTIs. Milk (A) is neutral, grape (B) less effective, and orange (D) is acidic but less cited. Document: 'Juices such as apple or cranberry help maintain acidity of urine.'
A 3-year-old girl presents with recurrent ear infections and speech delay. Audiometry shows conductive hearing loss. Most likely diagnosis is:
- A. Sensorineural hearing loss
- B. Otitis media with effusion
- C. Cholesteatoma
- D. Mastoiditis
Correct Answer: B
Rationale: OME causes conductive loss post-infections, per AAP. A, C-E differ.
A newborn appears with abdominal distension and bilious vomiting. Abdominal x-ray reveals a double bubble sign. Most likely diagnosis is:
- A. Pyloric stenosis
- B. Duodenal atresia
- C. Hirschsprung disease
- D. Meconium ileus
Correct Answer: B
Rationale: Duodenal atresia shows a double bubble sign with bilious vomiting, per AAP. A, C-E have different presentations.