Biomedical Laboratory Science

SAQs

A 24-year old man with no significant past medical history presents with an episode of mild jaundice. His liver function tests are normal apart from a bilirubin of 45 µmol/L. There is no bilirubinuria. His GP wonders whether this could be due to hemolysis, but you wish to explore an alternative diagnosis of Gilbert's Syndrome.

Answer these questions:
(a) Is this patient likely to have conjugated or unconjugated hyperbilirubinaemia?
(b) State two routinely available biochemistry tests that are of use in the exclusion of hemolysis.
(c) What might be seen on blood microscopy indicating increased erythrocyte turnover secondary to hemolysis?
(d) State two factors that exacerbate the mild hyperbilirubinemia of Gilbert's syndrome.
(e) Describe the genetic cause of Gilbert's syndrome.
(f) Discuss the diagnostic performance of genetic testing for Gilbert's syndrome.

Gilbert disease


TUMOUR MARKERS:

A 56-year old woman with a history of alcohol abuse and liver cirrhosis attended A&E with acute abdominal pains. A panel of tumor markers were requested with results as follows:AFP = 5 kU/L (<7)CA125 = 48 kU/L (<35)CA199 = <10 kU/L (<33)CEA = 3 μg/L (<5)

Answer these questions:
(a) Name two possible causes of elevated CA125 in this lady.
(b) The biomarkers listed above are proteins produced by the tumor cell. State another class of molecule that is currently used as a tumor biomarker giving one example plus the malignancy it is most associated with.
(c) Give two reasons why tumor markers should not be used in isolation to diagnose malignancy.
(d) Give two general examples of when the measurement of tumor markers is clinically useful.
(e) List three properties of the ideal cancer biomarker.
(f) Using hCG as an example, briefly discuss the analytical problems associated with tumor marker assays.

FRCPath: Part 1. Examination in Clinical Biochemistry Specimen Short Answer Question






CLINICAL CHEMISTRY:

A 77 year old male is brought into the Accident and Emergency department having been found at home collapsed. It was established from the history that the patient had been lying in the same place for over 14 hrs. His routine bloods on admission were as follows:
  • Sodium = 131 mmol/L 
  • Potassium = 5.2 mmol/L 
  • Chloride = 98 mmol/L 
  • Urea = 7.4 mmol/L 
  • Creatinine = 60 umol/L 
  • C-Reactive Protein = 96 mg/L 
  • Troponin I = <0.04 ug/L 
Answer these questions:
(a) Why was troponin I was measured in this case?
(b) Using the information provided, what condition is the patient at risk of developing?
(c) Name one additional test that would be useful to check on this specimen to confirm the condition in (b) above. Give a reason for your choice.
(d) The patient's urine was noted to be brown in color. What compound is responsible for this. Suggest a simple test that could be carried out to confirm its presence?
(e) Suggest why routine laboratory tests for compound mentioned in (d) above are largely no longer available?
(f) What major complication is this patient at risk of developing?


Clinical Chemistry Trainee Council: RCPath Style Questions


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