INI-CET 2023 — Pathology

Q: Abnormal accumulation of misfolded protein is seen in?

Creutzfeldt-Jakob disease. ***Creutzfeldt-Jakob disease*** - This is a neurodegenerative disease characterized by the accumulation of **abnormally folded prion proteins (PrPSc)** in the brain, leading to spongiform encephalopathy [1]. - The misfolding of normal cellular prion protein (PrPC) into its infectious and pathogenic form is central to the disease's pathology [2]. *Nephritic syndrome* - This syndrome is characterized by inflammation of the **glomeruli** in the kidneys, leading to hematuria, proteinuria, and hypertension. - It involves immune complex deposition and inflammation, not primarily the accumulation of misfolded proteins. *Sickle cell anemia* - This is a **genetic blood disorder** caused by a mutation in the beta-globin gene, leading to abnormal **hemoglobin S**. - While hemoglobin S can polymerize and deform red blood cells, it is not considered a disease of generalized misfolded protein accumulation in the same sense as prion diseases. *Megaloblastic anemia* - This condition is caused by impaired **DNA synthesis**, often due to **vitamin B12 or folate deficiency**, leading to large, immature red blood cells. - The pathology involves defective cell division and maturation, not the accumulation of misfolded proteins. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Central Nervous System, pp. 1284-1286. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Manifestations Of Central And Peripheral Nervous System Disease, pp. 712-713.

12 Questions — Page 2 of 2

Q11

All of the following are tests done for Turner mosaic screening except?

Q12

Abnormal accumulation of misfolded protein is seen in?