What is ONE gene mutation typically associated with Marfan’s syndrome?
- A. FBN1
- B. ACTA2
- C. SIX2
- D. TGFBR2
Correct Answer: A
Rationale: The FBN1 mutation is the most commonly identified genetic mutation associated with Marfan's syndrome.
You may also like to solve these questions
A woman who works as a data entry clerk is concerned as to how recent diagnosis of Raynaud's syndrome is going to affect her job performance. Which instruction should the nurse provide this client?
- A. Use a space heater to keep the workspace warm
- B. Keep hands elevated above the heart to prevent swelling.
- C. Wear tight gloves during work to avoid temperature fluctuations.
- D. Take frequent breaks to improve circulation in the hands.
Correct Answer: A
Rationale: Keeping the hands warm helps prevent vasospasms, which are characteristic of Raynaud's syndrome.
Toxoplasma gondii infection in humans causes:
- A. Oral ulcers
- B. Cervical lymphadenopathy
- C. Microcephaly
- D. Chorioretinitis
Correct Answer: D
Rationale: Chorioretinitis is a hallmark of congenital toxoplasmosis, leading to vision impairment.
Gingival hyperplasia is an adverse effect of therapy with:
- A. Phenytoin
- B. Cyclophosphamide
- C. Frusemide
- D. Carbamazepine
Correct Answer: A
Rationale: Phenytoin, an anticonvulsant medication, is well-known for causing gingival hyperplasia as a side effect.
All are true about TAPSE (Tricuspid Annular Plane Systolic Excursion), except
- A. Normal TAPSE is >17 mm
- B. Reliable measure of RV systolic function
- C. Can be measured using either M-mode or 2D echo
- D. TAPSE is measured at septal aspect of tricuspid annulus
Correct Answer: D
Rationale: TAPSE is measured at the lateral aspect of the tricuspid annulus, not the septal aspect.
Obstructed total anomalous pulmonary venous return (TAPVR) is a pediatric surgical emergency because
- A. therapy is usually not effective
- B. severe pulmonary congestion
- C. left atrium may be small
- D. left ventricle may be small
Correct Answer: B
Rationale: Obstructed TAPVR requires immediate surgical intervention due to severe pulmonary congestion.
Nokea