46 -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
Chylomicrons are formed in the gut from exogenous triacylglycerols and cholesterol. They are released into the lymph and thereby enter the blood.They are not formed in the liver.
47- 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
48- 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
The following inborn errors of amino acid metabolism are associated with abnormal odours: Glutaric acidaemia type II (sweaty feet), hawkinsinuria (swimming pool), isovaleric acidaemia (sweaty feet), maple syrup urine disease (maple syrup), methionine malabsorption (cabbage), multiple carboxylase deficiency (tomcat urine), oasthouse urine disease (hops-like), phenylketonuria (mousy or musty), trimethylaminuria (rotting fish), tyrosinaemia (rancid, fishy or cabbage-like). In addition, ketones may be smelt in diabetic ketoacidosis, and some intermediary disorders of fatty acid metabolism can result in fishy smells.
The general rule is that if a child smells peculiar he requires a metabolic work-up.
49- 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
The diagnosis is usually relatively easy to confirm in a symptomatic subject. A random glucose of >11.1 mmol/L or a fasting glucose of >7.0 mmol/L would be
regarded as confirmatory. There is usually glycosuria in addition to ketonuria.
Isolated ketonuria suggests fasting. A raised glycosolated haemoglobin (HbA1c) is also highly suggestive but not diagnostic. A glucose tolerance test is rarely needed.
50- 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
Familial hypercholesterolaemia is an autosomal dominant condition manifest by increased LDL concentrations (not chylomicrons) due to constitutional abnormalities and reduced numbers of the LDL receptor. Hypertriglyceridaemia is not characteristic and HDL concentrations are usually decreased. Tendon xanthomata are characteristic and the condition is associated with a premature cardiovascular mortality.
51- 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
Phenylketonuria is a quarter as common as congenital hypothyroidism, with an incidence of 1:10,000 live births. It is due either to phenylalanine hydroxylase
deficiency or problems with synthesis or recycling of the bioptrine co-factor. The presentation is with infantile spasms or developmental delay between 6 and 12
months of age. Patients may be musty smelling, fair haired and blue eyed and may develop eczema. Treatment is with restriction of dietary phenylalanine, while
ensuring sufficient for physical and neurological growth. Co-factor defects are treated with a diet low in phenylalanine and high in neurotransmitter precursors.
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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
Chylomicrons are formed in the gut from exogenous triacylglycerols and cholesterol. They are released into the lymph and thereby enter the blood.They are not formed in the liver.
47- 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
48- 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
The following inborn errors of amino acid metabolism are associated with abnormal odours: Glutaric acidaemia type II (sweaty feet), hawkinsinuria (swimming pool), isovaleric acidaemia (sweaty feet), maple syrup urine disease (maple syrup), methionine malabsorption (cabbage), multiple carboxylase deficiency (tomcat urine), oasthouse urine disease (hops-like), phenylketonuria (mousy or musty), trimethylaminuria (rotting fish), tyrosinaemia (rancid, fishy or cabbage-like). In addition, ketones may be smelt in diabetic ketoacidosis, and some intermediary disorders of fatty acid metabolism can result in fishy smells.
The general rule is that if a child smells peculiar he requires a metabolic work-up.
49- 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
The diagnosis is usually relatively easy to confirm in a symptomatic subject. A random glucose of >11.1 mmol/L or a fasting glucose of >7.0 mmol/L would be
regarded as confirmatory. There is usually glycosuria in addition to ketonuria.
Isolated ketonuria suggests fasting. A raised glycosolated haemoglobin (HbA1c) is also highly suggestive but not diagnostic. A glucose tolerance test is rarely needed.
50- 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
Familial hypercholesterolaemia is an autosomal dominant condition manifest by increased LDL concentrations (not chylomicrons) due to constitutional abnormalities and reduced numbers of the LDL receptor. Hypertriglyceridaemia is not characteristic and HDL concentrations are usually decreased. Tendon xanthomata are characteristic and the condition is associated with a premature cardiovascular mortality.
51- 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
Phenylketonuria is a quarter as common as congenital hypothyroidism, with an incidence of 1:10,000 live births. It is due either to phenylalanine hydroxylase
deficiency or problems with synthesis or recycling of the bioptrine co-factor. The presentation is with infantile spasms or developmental delay between 6 and 12
months of age. Patients may be musty smelling, fair haired and blue eyed and may develop eczema. Treatment is with restriction of dietary phenylalanine, while
ensuring sufficient for physical and neurological growth. Co-factor defects are treated with a diet low in phenylalanine and high in neurotransmitter precursors.
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