41- 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
Pyloric stenosis is associated with vomiting and the loss of stomach content – hence a metabolic alkalosis. Mineralocorticoid excess (Conn's syndrome) is
associated with a metabolic alkalosis. Ileostomy may be associated with a loss of bicarbonate ions and hence acidosis. Salicylates are themselves acidic and produce
a metabolic acidosis. A sodium chloride infusion is neutral and does not alter pH.
42- Osteomalacia may be expected in
1) Sarcoidosis
2) Auto-immune adrenalitis
3) Pseudo-hypoparathyroidism
4) Pernicious anaemia
5) Mercury poisoning
Answers-5
Osteomalacia may occur with vitamin D deficiency. Mercury poisoning or any heavy metal poisoning causes an acquired Fanconi syndrome with distal renal tubular acidosis.
43- 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
The genetic dislipidaemias occur in one third of patients who have suffered from their first myocardial infarction below the age of 50 years in men. The commonest
is familial combined hyperlipidaemia (two thirds), with a fifth due to familial hypercholesterolaemia. The former can be diagnosed only on family studies, and
there is elevation of fasting plasma tricglycerides not associated with hypercylomicronaemia. It is autosomal dominant, and some family members may have hypercylomicronaemia. Only 20% of children have elevated triglycerides before the age of 25. Obesity, insulin resistance, hyperinsulinaemia, glucose intolerance, and hyperuricaemia are associated. Heterozygous familial hypercholesterolaemia is dominantly inherited, and results from defects in the LDL receptor. The most important clinical manifestation is premature coronary artery disease, particularly with onset between the third or fourth decade. Tendon xanthomata and arcus cornea are rarely present in children, but are very important signs to identify.
44- Which of the following is a characteristic feature of acute intermittent porphyria?
1) autosomal recessive inheritance
2) excessive faecal protoporphyrin excretion
3) excessive urinary porphobilinigoen between acute attacks
4) hypernatraemia during attacks
5) photosensitivity
Answers-3
Features of acute intermittent porphyria include urinary porphobilinogen excretion raised between attacks, hyponatraemia during an acute attack and autosomal
dominant inheritance.
45- 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
Hunter's Syndrome (MPS-2) is of X-linked inheritance. The cornea are clear. The skeletal involvement tends to be mild with no gibbous present, though scoliosis is
often found. Mental retardation and heart involvement are less severe than in Hurler's Syndrome. Hurler's Syndrome (MPS0) is autosomal recessive in
inheritance and is associated with cloudy cornea. There is severe mental retardation, and gibbous deformation of the spine is characteristic. There is the
characteristic coarse facies with hepatosplenomegaly.
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1) An infusion of sodium chloride
2) Ileostomy
3) Mineralocorticoid deficiency
4) Pyloric stenosis
5) Salicylate poisoning
Answers-4
Pyloric stenosis is associated with vomiting and the loss of stomach content – hence a metabolic alkalosis. Mineralocorticoid excess (Conn's syndrome) is
associated with a metabolic alkalosis. Ileostomy may be associated with a loss of bicarbonate ions and hence acidosis. Salicylates are themselves acidic and produce
a metabolic acidosis. A sodium chloride infusion is neutral and does not alter pH.
42- Osteomalacia may be expected in
1) Sarcoidosis
2) Auto-immune adrenalitis
3) Pseudo-hypoparathyroidism
4) Pernicious anaemia
5) Mercury poisoning
Answers-5
Osteomalacia may occur with vitamin D deficiency. Mercury poisoning or any heavy metal poisoning causes an acquired Fanconi syndrome with distal renal tubular acidosis.
43- 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
The genetic dislipidaemias occur in one third of patients who have suffered from their first myocardial infarction below the age of 50 years in men. The commonest
is familial combined hyperlipidaemia (two thirds), with a fifth due to familial hypercholesterolaemia. The former can be diagnosed only on family studies, and
there is elevation of fasting plasma tricglycerides not associated with hypercylomicronaemia. It is autosomal dominant, and some family members may have hypercylomicronaemia. Only 20% of children have elevated triglycerides before the age of 25. Obesity, insulin resistance, hyperinsulinaemia, glucose intolerance, and hyperuricaemia are associated. Heterozygous familial hypercholesterolaemia is dominantly inherited, and results from defects in the LDL receptor. The most important clinical manifestation is premature coronary artery disease, particularly with onset between the third or fourth decade. Tendon xanthomata and arcus cornea are rarely present in children, but are very important signs to identify.
44- Which of the following is a characteristic feature of acute intermittent porphyria?
1) autosomal recessive inheritance
2) excessive faecal protoporphyrin excretion
3) excessive urinary porphobilinigoen between acute attacks
4) hypernatraemia during attacks
5) photosensitivity
Answers-3
Features of acute intermittent porphyria include urinary porphobilinogen excretion raised between attacks, hyponatraemia during an acute attack and autosomal
dominant inheritance.
45- 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
Hunter's Syndrome (MPS-2) is of X-linked inheritance. The cornea are clear. The skeletal involvement tends to be mild with no gibbous present, though scoliosis is
often found. Mental retardation and heart involvement are less severe than in Hurler's Syndrome. Hurler's Syndrome (MPS0) is autosomal recessive in
inheritance and is associated with cloudy cornea. There is severe mental retardation, and gibbous deformation of the spine is characteristic. There is the
characteristic coarse facies with hepatosplenomegaly.
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