Repeated USMLE Questions Step 1- Review- 156

Q- A 6-month-old infant presents with recurrent bacterial and fungal infections. Laboratory testing shows markedly decreased CD18 expression on neutrophils. Which of the following mechanisms is primarily impaired?

A- Chemotaxis toward IL-8

B- Diapedesis through endothelium

C- Phagolysosome fusion

D- Reactive oxygen species formation

B-Diapedesis through endothelium- CD18 is part of the integrin (LFA-1) complex required for leukocyte adhesion and transmigration (diapedesis). Deficiency causes leukocyte adhesion deficiency type I.

 

Q- A patient with chronic alcoholism develops confusion, ophthalmoplegia, and ataxia. Deficiency of which enzyme activity is most directly responsible for this condition?

A- Alpha-ketoglutarate dehydrogenase

B- Glucose-6-phosphate dehydrogenase

C- Pyruvate carboxylase

D- Succinate dehydrogenase

A- Alpha-ketoglutarate dehydrogenase- Thiamine deficiency impairs enzymes, including pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, and transketolase, leading to Wernicke encephalopathy.

 

Q- A drug selectively blocks voltage-gated sodium channels in rapidly firing neurons. Which property best explains its preferential effect?

A- Higher affinity for inactivated channels

B- Increased lipid solubility

C- Noncompetitive receptor binding

D- Rapid renal clearance

A- Higher affinity for inactivated channels- Use-dependent sodium channel blockers preferentially bind inactivated channels, making them more effective in rapidly firing neurons.

 

Q- A newborn is found to have ambiguous genitalia and salt-wasting. Laboratory studies show decreased cortisol and aldosterone with increased androgens. Which enzyme is most likely deficient?

A- 11-beta-hydroxylase

B- 17-alpha-hydroxylase

C- 21-hydroxylase

D- Aromatase

C- 21-hydroxylase- 21-hydroxylase deficiency causes decreased cortisol and aldosterone with shunting toward androgen production, leading to virilization and salt wasting.

 

Q- A researcher studies a mutation that prevents dissociation of GDP from a G protein alpha subunit. Which cellular effect is most likely?

A- Decreased second-messenger production

B- Increased adenylate cyclase activity

C- Increased ligand binding to receptor

D- Prolonged receptor activation

A- Decreased second-messenger production- G proteins must exchange GDP for GTP to become active. Failure to release GDP keeps the G protein inactive, reducing downstream second-messenger signaling.

 

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