Nokea
Hemolytic anaemia is characterised by:
- A. Increased haptoglobin
- B. Haemosiderinuria
- C. Polychromasia
- D. Megaloblastic bone marrow
Correct Answer: B
Rationale: Haemosiderinuria: Hemolytic anaemia often leads to the release of heme, which is broken down into hemosiderin, leading to haemosiderinuria (presence of hemosiderin in urine).
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Regarding the genetics of CF:
- A. The commonest mutation in Caucasians is the ~F-580
- B. The affected protein is a transmembrane Na channel
- C. Accurate prenatal diagnosis is possible in all cases
- D. There are less than 10 mutations causing disease
Correct Answer: B
Rationale: the affected protein in cystic fibrosis (CF) is the cystic fibrosis transmembrane conductance regulator (CFTR), which is a chloride channel, not a sodium channel. The other options are incorrect: (a) The commonest mutation in Caucasians is ΔF508, not ~F-580. (b) Parents of an affected child are typically carriers and do not show symptoms. (c) Prenatal diagnosis is not possible in all cases due to the vast number of mutations. (d) There are over 2000 known mutations causing CF.
The MOST common cause of death from associated cardiac lesions without heart syndrome in the first month of life is
- A. d-Transposition
- B. hypoplastic left heart syndrome
- C. pulmonary atresia
- D. truncus arteriosus
Correct Answer: A
Rationale: d-Transposition of the great arteries is a common cause of death in the first month due to mixing of oxygenated and deoxygenated blood.
The treatment of the patient is best performed by which methods (Select one that doesn't apply)?
- A. Intravenous indomethacin
- B. Surgical closure
- C. Catheter coil closure
- D. Digoxin until the PDA closes spontaneously
Correct Answer: D
Rationale: Indomethacin, surgical closure, and catheter coil closure are standard treatments for patent ductus arteriosus.
The following statements are true of bronchiolitis:
- A. Up to 50% of patients continue to wheeze after recovery
- B. The typical pathogen is para-influenza virus
- C. Corticosteroid therapy is beneficial
- D. Tachypnoea is invariable
Correct Answer: A
Rationale: Wheezing after bronchiolitis is common. The typical pathogen is respiratory syncytial virus, not para-influenza. Corticosteroids are not routinely beneficial, and tachypnoea is common but not invariable.
Features of severe haemophilia A include:
- A. Retroperitoneal bleed
- B. Chronic arthropathy
- C. Prolonged bleeding time
- D. Increased APTT
Correct Answer: D
Rationale: Increased activated partial thromboplastin time (APTT) is a characteristic feature of haemophilia A due to the deficiency of clotting factor VIII.