General Pathology Practice Questions

Q: Which of the following disorders is most commonly associated with Down's syndrome?

Early onset Alzheimer's disease. **Explanation:** **Correct Option: D. Early onset Alzheimer's disease** The association between Down’s syndrome (Trisomy 21) and early-onset Alzheimer’s disease is rooted in genetics. The gene encoding the **Amyloid Precursor Protein (APP)** is located on **chromosome 21**. Individuals with Down’s syndrome have three copies of this gene, leading to an overproduction of APP and subsequent accumulation of **amyloid-beta plaques** in the brain. By age 40, nearly all patients with Down’s syndrome exhibit neuropathological changes characteristic of Alzheimer’s, often manifesting clinically in their 40s or 50s. **Analysis of Incorrect Options:** * **A. Hirschsprung disease:** While there is an increased risk of Hirschsprung disease in Down’s syndrome (approximately 2–3% of cases), it is less universally associated than the neuropathological changes of Alzheimer’s. * **B. Chronic myeloid leukemia (CML):** Down’s syndrome is strongly associated with **Acute Leukemia**, specifically **AML (M7 subtype/Megakaryoblastic)** in children under 3 and **ALL** in children over 3. It is not typically associated with CML. * **C. Late onset Alzheimer's disease:** Late-onset (sporadic) Alzheimer’s usually occurs after age 65 and is associated with the **APOE-ε4 allele**, whereas the Down’s association is specifically "early-onset" due to the gene dosage effect of APP. **High-Yield Clinical Pearls for NEET-PG:** * **Most common cardiac defect:** Atrioventricular Septal Defect (Endocardial cushion defect). * **Gastrointestinal:** Duodenal atresia ("Double bubble" sign). * **Hematology:** Transient Myeloproliferative Disorder (TMD) is unique to neonates with Down's. * **Biochemical Screening (Quadruple Test):** Low AFP, Low Unconjugated Estriol (uE3), **High hCG, and High Inhibin-A** (Mnemonic: **HI**gh = **H**CG & **I**nhibin).

Q: Factor V Leiden is resistant to direct inactivation by:

Activated protein C. **Explanation:** **Factor V Leiden** is the most common inherited cause of hypercoagulability (thrombophilia). It results from a specific point mutation (G1691A) in the Factor V gene, where the amino acid **Arginine is replaced by Glutamine at position 506**. **Why Activated Protein C (APC) is the correct answer:** In the normal anticoagulation pathway, **Activated Protein C (APC)** inactivates procoagulant factors Va and VIIIa by cleaving them at specific sites. The mutation in Factor V Leiden alters the cleavage site (Arg506) where APC normally binds. Consequently, Factor V remains in its active form for longer, leading to a state of "APC Resistance" and an increased risk of venous thromboembolism (VTE). **Analysis of Incorrect Options:** * **A. Thrombin-thrombomodulin complex:** This complex is responsible for *activating* Protein C into APC. It does not directly inactivate Factor V; rather, it initiates the pathway that leads to its inactivation. * **B. Antithrombin:** Antithrombin primarily inhibits Thrombin (IIa) and Factor Xa. While it is a major natural anticoagulant, its primary target is not Factor V. **High-Yield Clinical Pearls for NEET-PG:** * **Inheritance:** Autosomal Dominant. * **Clinical Presentation:** Recurrent Deep Vein Thrombosis (DVT) and Pulmonary Embolism. * **Diagnosis:** Suspected when a patient has a shortened Activated Partial Thromboplastin Time (aPTT) that does not prolong significantly upon the addition of APC (APC Resistance Test). * **Genetic Confirmation:** PCR is the gold standard to identify the G1691A mutation. * **Risk:** Heterozygotes have a 5-10 fold increased risk of VTE; homozygotes have up to an 80-fold increased risk.

Question 1

Which of the following is true about metastatic calcification?

Accepted Answer

Calcification starts in mitochondria

Answer

Serum calcium level is normal

Answer

Occurs in dead or dying tissue

Answer

Occurs in damaged heart valves

Question 2

Crumpled tissue paper appearance of cytoplasm in bone marrow examination is due to the intracellular accumulation of which of the following?

Accepted Answer

Glucocerebroside

Answer

Cerebroside

Answer

Ganglioside

Answer

Sphingomyelin

Question 3

Which of the following disorders is most commonly associated with Down's syndrome?

Accepted Answer

Early onset Alzheimer's disease

Answer

Hirschsprung disease

Answer

Chronic myeloid leukemia (CML)

Answer

Late onset Alzheimer's disease

Question 4

The type of embolism typically seen following fractures of long bones is:

Accepted Answer

Fat embolism

Answer

Thromboembolism

Answer

Air embolism

Answer

Amniotic fluid embolism

Question 5

A 40-year-old pregnant female in her third trimester presents with bilateral leg swelling. Which of the following statements about the type of thrombosis most likely to be present in this patient is true?

Accepted Answer

Thrombosis grows in an antegrade manner.

Answer

Pale platelet layer alternating with a dark red cell layer is present.

Answer

Incomplete lumen occlusion is present.

Answer

It causes ischemia and infarction of organs.

Question 6

An increase in the size of a cell in response to stress is called hypertrophy. Which of the following does not represent an example of smooth muscle hypertrophy as an adaptive response to a relevant situation?

Accepted Answer

Triceps in body-builders

Answer

Urinary bladder in urine outflow obstruction

Answer

Gallbladder in chronic cholecystitis

Answer

Uterus enlargement during pregnancy

Question 7

All of the following are features of stem cells except?

Accepted Answer

Used in gene therapy

Answer

Found in yolk sac

Answer

Found in peripheral circulation

Answer

Some stem cells are unipotent

Question 8

Oncocytes are a modified form of which organelle?

Accepted Answer

Mitochondria

Answer

Nucleolus

Answer

Endoplasmic Reticulum

Answer

Lysosomes

Question 9

Factor V Leiden is resistant to direct inactivation by:

Accepted Answer

Activated protein C

Answer

Thrombin-thrombomodulin complex

Answer

Antithrombin

Answer

All of the above

Question 10

Coagulation defect involving both the arterial and venous system is seen in which of the following conditions?

Accepted Answer

Hyperhomocystinemia

Answer

Factor V Leiden

Answer

Protein C deficiency

Answer

Antithrombin III deficiency

General Pathology — MCQs

General Pathology — MCQs

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