General Pathology Practice Questions

Q: A married middle-aged female gives a history of repeated abortions for the past 5 years. The given below is a prenatal karyogram from one of her conceptions. This karyogram suggests which of the following?

Down's syndrome. ***Down's syndrome*** - The karyogram shows **47 chromosomes with trisomy 21**, characteristic of Down's syndrome, which can lead to **spontaneous abortions** in early pregnancy. - **Advanced maternal age** increases the risk of nondisjunction during meiosis, resulting in chromosomal abnormalities like trisomy 21. *Klinefelter's syndrome* - This condition shows a **47,XXY karyotype** with an extra X chromosome, not an extra autosome like chromosome 21. - Primarily affects **males** and is associated with **hypogonadism** and **infertility**, not recurrent abortions in females. *Turner's syndrome* - Characterized by a **45,X karyotype** with a missing X chromosome, resulting in **monosomy**. - Affects **females** with features like **short stature** and **ovarian dysgenesis**, but shows chromosome loss, not gain. *Patau's syndrome* - Results from **trisomy 13** showing **47 chromosomes with an extra chromosome 13**, not chromosome 21. - Associated with severe **intellectual disability** and **multiple congenital anomalies**, with most cases resulting in early death.

Q: Which disease is characterized by the following histopathological finding?

Wolman disease. ***Wolman disease*** - Characterized by **foamy macrophages** filled with **cholesteryl esters** and **triglycerides** due to **lysosomal acid lipase (LAL) deficiency**. - Classic presentation includes **bilateral adrenal calcification** and **hepatosplenomegaly** in infants with failure to thrive. *I-cell disease* - Shows **inclusion bodies** in **fibroblasts** with **coarse cytoplasmic granules**, not foamy macrophages. - Results from **N-acetylglucosamine-1-phosphotransferase deficiency**, causing defective lysosomal enzyme targeting. *Gaucher disease* - Exhibits **Gaucher cells** with characteristic **wrinkled-paper cytoplasm** appearance, distinct from foamy macrophages. - Caused by **glucocerebrosidase deficiency** leading to **glucocerebroside accumulation** in macrophages. *Metachromatic leukodystrophy* - Features **metachromatic sulfatide deposits** that stain **brown-yellow** with cresyl violet, not foamy appearance. - Results from **arylsulfatase A deficiency** causing **sulfatide accumulation** primarily in nervous tissue.

Q: What is the clinical evidence of dentinogenesis imperfecta?

Defective dentine and obliterated pulp chamber. **Explanation:** **Dentinogenesis Imperfecta (DI)** is an autosomal dominant disorder of dentin formation caused by mutations in the **DSPP gene** (Dentin Sialophosphoprotein). **Why Option B is Correct:** The hallmark of DI is the formation of abnormal, poorly mineralized dentin. Histologically and radiographically, this manifests as: 1. **Defective Dentin:** The dentin is softer and contains irregular, sparse tubules. 2. **Obliteration of Pulp Chambers:** Because the odontoblasts are functionally deranged, they produce dentin in an accelerated, disorganized manner, eventually filling and completely obliterating the pulp chambers and root canals. This is a classic radiographic sign. **Analysis of Incorrect Options:** * **Option A:** DI primarily affects dentin. While the enamel may flake off easily because the underlying dentino-enamel junction (DEJ) is smooth (lacking the normal scalloping), the **enamel itself is structurally normal**. * **Option C:** Interestingly, teeth with DI actually show a **decreased rate of caries**. This is attributed to the rapid attrition (wear) of the teeth and the absence of patent dentinal tubules, which prevents bacterial invasion. * **Option D:** **Oligodontia** (congenital absence of six or more teeth) is not a feature of DI. DI affects the structure of the teeth that are present, not their number. **High-Yield Clinical Pearls for NEET-PG:** * **Appearance:** Teeth often exhibit a characteristic **translucent, opalescent, or "amber"** color. * **Radiographic Sign:** "Bell-shaped" crowns with cervical constriction and thin, short roots. * **Association:** DI Type I is associated with **Osteogenesis Imperfecta** (look for "blue sclera" in the clinical vignette). DI Type II and III occur in isolation.

Question 1

Metaplasia occurs in all of the following except:

Accepted Answer

Stem cells

Answer

Squamous cells

Answer

Columnar cells

Answer

Transitional cells

Question 2

A 31-year-old man presents with infertility and aspermia. He reports chronic diarrhea with elevated quantitative stool fat, and has a history of recurrent, severe respiratory tract infections since early childhood. As a neonate, he experienced bowel obstruction due to meconium ileus. Which gene is most likely to harbor a mutation causing these symptoms?

Accepted Answer

CFTR

Answer

FGFR

Answer

G6PD

Answer

HFE

Question 3

Which organ is least affected by arterial thromboembolism?

Accepted Answer

Liver

Answer

Kidney

Answer

Heart

Answer

Brain

Question 4

A married middle-aged female gives a history of repeated abortions for the past 5 years. The given below is a prenatal karyogram from one of her conceptions. This karyogram suggests which of the following?

Accepted Answer

Down's syndrome

Answer

Klinefelter's syndrome

Answer

Turner's syndrome

Answer

Patau's syndrome

Question 5

In muscle hypertrophy, which myosin isoform changes?

Accepted Answer

Alpha

Answer

Beta

Answer

Theta

Answer

Delta

Question 6

Which disease is characterized by the following histopathological finding?

Accepted Answer

Wolman disease

Answer

I-cell disease

Answer

Gaucher disease

Answer

Metachromatic leukodystrophy

Question 7

A 60-year-old male patient complains of discoloration of his right leg. He is a known case of diabetes mellitus. Physical examination reveals blackish discoloration of the right leg with a dry and shrunken appearance. Which of the following most appropriately describes the condition of this patient?

Accepted Answer

Dry gangrene

Answer

Wet gangrene

Answer

Psoriasis

Answer

Pemphigus

Question 8

Apoptosis does not occur by the normal caspase pathway in which of the following?

Accepted Answer

Neurons

Answer

Liver

Answer

Muscle

Answer

Skin

Question 9

What is the clinical evidence of dentinogenesis imperfecta?

Accepted Answer

Defective dentine and obliterated pulp chamber

Answer

Defective enamel and dentine

Answer

Increased rate of caries

Answer

Oligodontia

Question 10

Which of the following is an example of a direct acting toxin?

Accepted Answer

Mercuric chloride

Answer

Acetaminophen

Answer

Carbon tetrachloride

Answer

Bromobenzene

General Pathology — MCQs

General Pathology — MCQs

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