Nokea
X-linked conditions include:
- A. Duchenne muscular dystrophy
- B. Hypophosphataemic rickets
- C. Huntington's chorea
- D. Phenylketonuria
Correct Answer: A
Rationale: Duchenne muscular dystrophy is an X-linked recessive disorder caused by mutations in the dystrophin gene.
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What are the SIX anatomic features associated with AVSD?
- A. AV-valve leaflets at the same level
- B. Absent AV septum
- C. Unwedged aortic valve
- D. Gooseneck elongated LVOT
Correct Answer: D
Rationale: AVSD involves multiple anatomic features that lead to a characteristic appearance and functional issues in the heart.
All of the following are conditions with combined cellular and antibody immunodeficiency, except
- A. Ataxia telangiectasia
- B. Reticular dysgenesis
- C. Common variable immunodeficiency
- D. Severe combined immunodeficiency
Correct Answer: C
Rationale: Common variable immunodeficiency (CVID) is primarily an antibody deficiency, not a combined immunodeficiency.
Possible causes of isosexual precocious puberty in a 6-year-old girl are:
- A. McCune-Albright syndrome
- B. Congenital adrenal hyperplasia (CAH)
- C. Ovarian tumour
- D. Hypothalamic hamartomas
Correct Answer: D
Rationale: Hypothalamic hamartomas can cause precocious puberty by secreting gonadotropin-releasing hormone (GnRH) prematurely.
The following are true of vitamin K:
- A. It is a water-soluble vitamin
- B. It is found mainly in red meat
- C. After infancy most is synthesised by the gut flora
- D. Low levels after birth may lead to intracerebral haemorrhage
Correct Answer: C
Rationale: Vitamin K is synthesized by gut flora after infancy. It is a fat-soluble vitamin, and low levels after birth can lead to hemorrhagic disease of the newborn.
Common reasons for doing a BMT in children are:
- A. SCID (severe combined immunodeficiency)
- B. Acute lymphoblastic leukemia
- C. CML
- D. Gaucher's disease
Correct Answer: A
Rationale: The correct answer is A because SCID is a primary indication for bone marrow transplant (BMT) in children. The other options (b-e) are also indications but less common.