General Pathology Practice Questions

Q: What is the most common inherited thrombotic disorder?

Factor V Leiden mutation. **Explanation:** **Factor V Leiden mutation** is the most common inherited cause of hypercoagulability (thrombophilia) in Caucasian populations, occurring in approximately 2–15% of the general population [1]. **Why it is correct:** The condition results from a specific point mutation in the Factor V gene (G1691A), where Glutamine replaces Arginine at position 506 [1]. This site is the normal cleavage point for **Activated Protein C (APC)**. Because the mutated Factor V is resistant to degradation by APC, it remains active in the coagulation cascade for longer, leading to a prothrombotic state. This phenomenon is known as **APC Resistance** [1]. **Why other options are incorrect:** * **Protein C and S deficiencies:** While these are well-known inherited thrombophilic conditions, they are significantly rarer than Factor V Leiden, occurring in less than 1% of the population. * **tPA (Tissue Plasminogen Activator) deficiency:** This is an extremely rare cause of thrombosis. Most clinical thrombotic disorders involve the coagulation cascade or platelet activation rather than primary fibrinolytic defects. **High-Yield Clinical Pearls for NEET-PG:** * **Inheritance:** Autosomal Dominant. * **Clinical Presentation:** Most commonly presents as recurrent Deep Vein Thrombosis (DVT) or Pulmonary Embolism (PE) [1]. * **Prothrombin G20210A mutation:** This is the *second* most common inherited thrombotic disorder [1]. * **Screening:** The initial screening test is the **Functional APC Resistance Assay**; confirmation is done via **Genetic testing (PCR)** for the F5 gene. * **Risk Factor:** Heterozygotes have a 5–10 fold increased risk of thrombosis, while homozygotes have an 80-fold increased risk. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Hemodynamic Disorders, Thromboembolic Disease, and Shock, pp. 133-134.

Q: Which gene is involved in Rett syndrome?

MECP2. **Explanation:** **Rett Syndrome** is a rare neurodevelopmental disorder that primarily affects females. The correct answer is **MECP2** (Methyl-CpG-binding protein 2), located on the **X chromosome (Xq28)**. 1. **Why MECP2 is correct:** The *MECP2* gene encodes a protein essential for normal brain development and function. It acts as a transcriptional repressor, binding to methylated DNA to "silence" specific genes. Mutations lead to the failure of gene silencing, causing global developmental regression, loss of purposeful hand movements (stereotypical hand-wringing), and ataxia. Since it is X-linked dominant, it is usually lethal in males, explaining why it is seen almost exclusively in females. 2. **Why other options are incorrect:** * **P53:** Known as the "Guardian of the Genome," this is a tumor suppressor gene. Mutations are associated with **Li-Fraumeni Syndrome** and various cancers, not neurodevelopmental disorders. * **RB (Retinoblastoma gene):** This is a cell cycle regulator (G1 to S phase). Mutations lead to **Retinoblastoma** and osteosarcoma. * **BRCA (BRCA1/2):** These genes are involved in DNA repair via homologous recombination. Mutations significantly increase the risk of **Breast and Ovarian cancers**. **High-Yield Clinical Pearls for NEET-PG:** * **Clinical Presentation:** A girl who develops normally until 6–18 months, followed by a sudden loss of speech and the pathognomonic **"hand-wringing" tremors**. * **Inheritance:** X-linked Dominant (most cases are *de novo* mutations). * **Pathology:** Brain biopsy typically shows decreased dendritic branching rather than neuronal degeneration.

Question 1

Neurofibromatosis I is inherited in which pattern?

Accepted Answer

Autosomal dominant

Answer

Autosomal recessive

Answer

X-linked recessive

Answer

X-linked dominant

Question 2

All of the following are true about arterial thrombosis except?

Accepted Answer

Complete lumen obstruction

Answer

Retrograde growth

Answer

Lines of Zahn

Answer

White thrombus

Question 3

A patient is brought to the emergency department following carbon monoxide poisoning. Hyperbaric oxygen was given, following which the patient developed oxygen toxicity. What is the likely mechanism of the toxicity?

Accepted Answer

Mediated by free radicals

Answer

Direct DNA damage

Answer

Apoptosis

Answer

Nuclear fragmentation

Question 4

Which of the following is an example of labile tissue?

Accepted Answer

Transitional epithelium of the urinary tract

Answer

Parenchyma of most solid organs

Answer

Neurons

Answer

Skeletal muscles

Question 5

Venous emboli are most often lodged in which organ?

Accepted Answer

Lungs

Answer

Intestines

Answer

Kidneys

Answer

Heart

Question 6

What is the most common inherited thrombotic disorder?

Accepted Answer

Factor V Leiden mutation

Answer

Protein C deficiency

Answer

Protein S deficiency

Answer

tPA deficiency

Question 7

Which of the following statements regarding reversible cell injury is FALSE?

Accepted Answer

Formation of amorphous densities in the mitochondrial matrix

Answer

Diminished generation of adenosine triphosphate (ATP)

Answer

Formation of blebs in the plasma membrane

Answer

Detachment of ribosomes from the granular endoplasmic reticulum

Question 8

Dystrophic calcification is seen in which of the following conditions?

Accepted Answer

Myositis ossificans

Answer

Paget's disease

Answer

Metastasis

Answer

Sarcoidosis

Question 9

Which gene is involved in Rett syndrome?

Accepted Answer

MECP2

Answer

P53

Answer

RB

Answer

BRCA

Question 10

Which of the following statements is FALSE regarding Fibrinoid necrosis?

Accepted Answer

It is a Type II hypersensitivity reaction.

Answer

It is due to immune complex deposition.

Answer

It gives an eosinophilic appearance.

Answer

It is seen in malignant hypertension.

General Pathology — MCQs

General Pathology — MCQs

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