Repeated USMLE Questions Step 1- Review- 74- Pathology

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Q- A newborn is evaluated at birth due to congenital malformation. FISH analysis shows 22q 11.2 microdeletion. Which of the following is the most likely diagnosis?

A- Achondroplasia

B- DiGeorge syndrome

C- Down syndrome

D- Turner syndrome

B– DiGeorge syndrome- This deletion causes abnormal fetal development of the 3rd and 4th pharyngeal pouches. It affects the thymus and parathyroid gland.



Q- A 6-year-old boy is diagnosed with glucose-6-phosphate deficiency anemia. Which of the following is the pathogenesis of this condition?

A- Excessive reduction of glutathione

B- Inability to produce enough NADPH

C- Production of huge amount of NADPH

B- Inability to produce enough NADPH- This condition is an X-linked recessive disorder. It is characterized by inability to produce enough NADPH to reduce glutathione. It causes hemolysis to the RBCs when the patient is exposed to oxidative stress. It is common in boys of African and Mediterranean origin.



Q- Which one of the following lung condition occurs mostly in sandblasters and is characterized by fibrotic nodules in the upper lobes of the lung?

A- Asbestosis

B- Berylliosis

C- Coal Workers’ Pneumoconiosis

D- Silicosis

D- Silicosis- It is caused by inhalation of silica and is common in sandblasters and silica miners. These patients have increased risk for TB.



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