Nokea
All are true about genotype - phenotype correlation in Brugada syndrome, except
- A. SCN5A mutation is associated with short PR interval
- B. LTCC mutation is associated with short QT interval
- C. Yield of genetic testing is low (25%)
- D. No major therapeutic implication of genetic testing
Correct Answer: D
Rationale: There are therapeutic implications of genetic testing in Brugada syndrome.
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The following statements regarding retinoblastoma are correct:
- A. It is usually fatal even if diagnosis is made early
- B. The tumour is heritable
- C. They may occur bilaterally
- D. The finding of leucorrhoea suggests the diagnosis
Correct Answer: B
Rationale: Retinoblastoma is heritable and can occur bilaterally. Early diagnosis improves prognosis, and leucorrhoea is not associated with retinoblastoma.
Which of the following is correct in breast milk jaundice?
- A. Peaks at first week of life
- B. Recurs with resumption of breast milk after trial stoppage
- C. Kernicterus can occur
- D. Seen in up to 10% of infants
Correct Answer: B
Rationale: Breast milk jaundice recurs when breastfeeding is resumed after a temporary stoppage.
Peak expiratory flow rate:
- A. Is a sensitive parameter to assess improvement to therapy in acute bronchial asthma
- B. Measures small airway resistance
- C. Is more related to height rather than age
- D. Less than 50% of normal is an indication for aminophylline therapy in acute asthma
Correct Answer: A
Rationale: Peak expiratory flow rate is a useful tool to monitor response to asthma therapy, particularly in acute exacerbations.
What is the most likely congenital heart lesion in a newborn with Trisomy 21?
- A. AVSD
- B. Tetralogy of Fallot
- C. Ventricular septal defect
- D. Pulmonary stenosis
Correct Answer: A
Rationale: Atrioventricular septal defect (AVSD) is highly associated with Trisomy 21 and is the most likely congenital heart lesion in these infants.
Cytosolic glycogen accumulation does not occur in
- A. Pompe disease
- B. Mc Ardle's disease
- C. Phosphofructokinase deficiency
- D. Phosphoglycerate kinase deficiency
Correct Answer: D
Rationale: Phosphoglycerate kinase deficiency does not lead to cytosolic glycogen accumulation.