1- Which of the following enzyme defects is associated with a characteristic body odour?
1) Phenylalanine aminotransferase
2) Galactose0-phosphate-uridyltransferase
3) Ornithine transcarbamylase deficiency
4) Fumaryl acetoacetase
5) Branched chain ketoacid decarboxylase
Answers-5
2- Metabolic alkalosis is characteristically found in which of the following?
1) An infusion of sodium chloride
2) Ileostomy
3) Mineralocorticoid deficiency
4) Pyloric stenosis
5) Salicylate poisoning
Answers-4
3- Which of the following suggests a diagnosis of Hurler's Syndrome rather than Hunter's Syndrome?
1) X-linked inheritance
2) Mental retardation
3) Skeletal abnormalities
4) Cloudy cornea
5) Cardiomyopathy
Answers-4
4 -With respect to lipoprotein transport and metabolism in the body, the following statements are correct EXCEPT:
1) Arterial walls contain cells with LDL receptors.
2) Cholesterol is required for the formation of red blood cell membranes.
3) Chylomicrons are synthesized in the liver.
4) HDL is assembled in the extracellular space.
5) VLDL transformation to LDL occurs in adipose tissue.
Answers-3
5- Which of the following conditions may be detectable by growth monitoring?
1) Hyperthyroidism
2) Hypothyroidism
3) Pseudohypoparathyroidism
4) XYY Syndrome
5) Insulin dependent diabetes mellitus
Answers-2
6- An 16-year-old man presents with polyuria and polydipsia. Which of the following may confirm the diagnosis of diabetes
mellitus?
1) A random plasma glucose of >7.5 mmol/L
2) A finding of 3+ ketonuria
3) An HbA1c of 7.0%
4) A fasting plasma glucose of 7.5 mmol/L
5) An abnormal glucose tolerance test
Answers-4
7- Which of the following is a characteristic feature of familial hypercholesterolaemia?
1) Autosomal dominant inheritance
2) elevated chylomicrons
3) hypertriglyceridaemia
4) increased expression of LDL receptors
5) Palmar xanthomas
Answers-1
8- Which of the following has a known association with phenylketonuria?
1) Presentation in the second year of life with absence seizures.
2) The association of red hair and brown eyes.
3) Normal development.
4) Musty odour.
5) Response of some patients to piridoxine.
Answers-4
1) Phenylalanine aminotransferase
2) Galactose0-phosphate-uridyltransferase
3) Ornithine transcarbamylase deficiency
4) Fumaryl acetoacetase
5) Branched chain ketoacid decarboxylase
Answers-5
2- Metabolic alkalosis is characteristically found in which of the following?
1) An infusion of sodium chloride
2) Ileostomy
3) Mineralocorticoid deficiency
4) Pyloric stenosis
5) Salicylate poisoning
Answers-4
3- Which of the following suggests a diagnosis of Hurler's Syndrome rather than Hunter's Syndrome?
1) X-linked inheritance
2) Mental retardation
3) Skeletal abnormalities
4) Cloudy cornea
5) Cardiomyopathy
Answers-4
4 -With respect to lipoprotein transport and metabolism in the body, the following statements are correct EXCEPT:
1) Arterial walls contain cells with LDL receptors.
2) Cholesterol is required for the formation of red blood cell membranes.
3) Chylomicrons are synthesized in the liver.
4) HDL is assembled in the extracellular space.
5) VLDL transformation to LDL occurs in adipose tissue.
Answers-3
5- Which of the following conditions may be detectable by growth monitoring?
1) Hyperthyroidism
2) Hypothyroidism
3) Pseudohypoparathyroidism
4) XYY Syndrome
5) Insulin dependent diabetes mellitus
Answers-2
6- An 16-year-old man presents with polyuria and polydipsia. Which of the following may confirm the diagnosis of diabetes
mellitus?
1) A random plasma glucose of >7.5 mmol/L
2) A finding of 3+ ketonuria
3) An HbA1c of 7.0%
4) A fasting plasma glucose of 7.5 mmol/L
5) An abnormal glucose tolerance test
Answers-4
7- Which of the following is a characteristic feature of familial hypercholesterolaemia?
1) Autosomal dominant inheritance
2) elevated chylomicrons
3) hypertriglyceridaemia
4) increased expression of LDL receptors
5) Palmar xanthomas
Answers-1
8- Which of the following has a known association with phenylketonuria?
1) Presentation in the second year of life with absence seizures.
2) The association of red hair and brown eyes.
3) Normal development.
4) Musty odour.
5) Response of some patients to piridoxine.
Answers-4
9- Osteomalacia may be expected in
1) Sarcoidosis
2) Auto-immune adrenalitis
3) Pseudo-hypoparathyroidism
4) Pernicious anaemia
5) Mercury poisoning
Answers-5
10- Which of the following suggests a diagnosis of familial combined hyperlipidaemia (FCHL) rather than heterozygous familial hypercholesterolaemia (FH)?
1) Tendon xanthomas
2) Presence of glucose intolerance
3) Strong family history of premature coronary artery disease
4) Presence of arcus senilus
5) Absence of hyperuricaemia
Answers-2
1) Sarcoidosis
2) Auto-immune adrenalitis
3) Pseudo-hypoparathyroidism
4) Pernicious anaemia
5) Mercury poisoning
Answers-5
10- Which of the following suggests a diagnosis of familial combined hyperlipidaemia (FCHL) rather than heterozygous familial hypercholesterolaemia (FH)?
1) Tendon xanthomas
2) Presence of glucose intolerance
3) Strong family history of premature coronary artery disease
4) Presence of arcus senilus
5) Absence of hyperuricaemia
Answers-2
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