Kaplan

Question 1

Name four results/sx/physical findings due to nonfunctional dynein motor dt gene mutations. And what is the name of the syndrome?

Answer 1

Kartagener

1. Ciliary dysfunction, leading to bronchiectasis
2. Sperm motility bc of flagellar dysfunction
3. Situs inversus
4. Intracellular transport of vesicles affected.

Question 2

45yo F presents with double vision, bl ptosis and meild medial rectus palsy. CT shows large mediastinal mass. Surgical excision show smixture of spindle-shaped eipithelial cells arranged in whorls and mature lymphocyts. Most likely mechanism and dx?

Answer 2

thymoma, presenting with myasthenia gravis.

Ab to pst-synaptic ACh receptors.