General Pathology Practice Questions

Q: Pierre Robin syndrome is a:

Sequence. **Explanation:** **Pierre Robin Syndrome** is classified as a **Sequence** because it involves a single primary developmental defect that triggers a cascade of secondary structural consequences. 1. **Why it is a Sequence:** The primary defect is **Micrognathia** (a small mandible). This prevents the tongue from descending into the floor of the mouth, causing it to remain positioned posteriorly and superiorly (**Glossoptosis**). This physical obstruction by the tongue prevents the palatal shelves from fusing, resulting in a **U-shaped Cleft Palate**. Thus, one initial anomaly leads to a predictable chain of subsequent defects. 2. **Why other options are incorrect:** * **Malformation:** A primary structural defect resulting from an intrinsically abnormal developmental process (e.g., Polydactyly or Congenital Heart Disease). * **Deformation:** An alteration in the shape or form of a normally developed structure due to mechanical forces (e.g., Clubfoot due to Oligohydramnios). * **Disruption:** The breakdown or interference of an originally normal organ or body region due to an extrinsic factor (e.g., Amniotic Band Syndrome causing limb amputation). **High-Yield Clinical Pearls for NEET-PG:** * **The Triad:** Micrognathia, Glossoptosis, and Cleft Palate. * **Airway Management:** The most critical immediate concern is airway obstruction due to glossoptosis; placing the infant in a **prone position** can help. * **Potter’s Sequence:** Another high-yield example (Renal agenesis → Oligohydramnios → Pulmonary hypoplasia/Flattened facies).

Q: Werner disease is associated with?

Premature ageing. **Explanation:** **Werner Syndrome (Adult Progeria)** is an autosomal recessive disorder characterized by **premature aging**. It is caused by a mutation in the **WRN gene** (located on chromosome 8), which encodes a DNA helicase essential for DNA repair, replication, and maintaining telomere stability [1]. The loss of this enzyme leads to rapid accumulation of DNA damage and genomic instability. * **Why Premature Ageing is Correct:** Patients typically appear normal until puberty, after which they rapidly develop features of old age. Key clinical signs include graying and loss of hair, bilateral cataracts (usually by age 30), scleroderma-like skin changes, osteoporosis, and atherosclerosis. * **Why other options are incorrect:** * **Intestinal polyps:** This is characteristic of syndromes like Peutz-Jeghers or Familial Adenomatous Polyposis (FAP), not Werner syndrome. * **Multiple cancers:** While Werner syndrome patients have an increased risk of specific rare malignancies (like soft tissue sarcomas or osteosarcoma), "Multiple cancers" is the hallmark of **Li-Fraumeni syndrome** (TP53 mutation). * **Lax joints:** This is a feature of connective tissue disorders like **Ehlers-Danlos syndrome**. In contrast, Werner syndrome often presents with joint stiffness and skin tightening. **High-Yield Clinical Pearls for NEET-PG:** * **Gene:** WRN Gene (8p12); Protein: RecQ Helicase family. * **Classic Presentation:** "Bird-like" facies, short stature, high-pitched voice, and early-onset Type 2 Diabetes Mellitus. * **Most common cause of death:** Myocardial infarction (due to accelerated atherosclerosis) or malignancy. * **Differential:** **Hutchinson-Gilford Syndrome** is "Infantile Progeria" (LMNA gene), where aging begins in early childhood, unlike Werner which begins at puberty [1].

Question 1

Gamma Gandy bodies contain hemosiderin and what other substance?

Accepted Answer

Calcium

Answer

Sodium

Answer

Magnesium

Question 2

A 59-year-old man presents with acute chest pain. Laboratory studies and ECG indicate an acute myocardial infarction. Coronary angiography performed 2 hours later does not show evidence of thrombosis. Intravascular thrombolysis in this patient was mediated by plasminogen activators released by which of the following cells?

Accepted Answer

Endothelial cells

Answer

Cardiac myocytes

Answer

Macrophages

Answer

Vascular smooth muscle cells

Question 3

Which organelle plays the most important role in apoptosis?

Accepted Answer

Mitochondria

Answer

Smooth endoplasmic reticulum

Answer

Golgi complex

Answer

Rough endoplasmic reticulum

Question 4

Pierre Robin syndrome is a:

Accepted Answer

Sequence

Answer

Deformation

Answer

Malformation

Answer

Disruption

Question 5

An infant is brought in by his mother, who says that his skin tastes salty. The infant's pancreas is expected to undergo progressive fibrosis with atrophy of the exocrine glands and cystic dilation of the ducts. What is the basic underlying cellular abnormality?

Accepted Answer

Decreased function of a glycosylated chloride channel

Answer

Decreased synthesis of a surface receptor

Answer

Decreased intracellular cyclic AMP (cAMP)

Answer

Increased phosphorylation of a chloride channel

Question 6

Subluxated lens, thin elongated extremities, hyperextensible extremities, and aortic aneurysm are the characteristic clinical features of which of the following conditions?

Accepted Answer

Marfan's syndrome

Answer

Ehlers-Danlos syndrome

Answer

Homocystinuria

Answer

Klinefelter's syndrome

Question 7

Which of the following growth alterations is an example of hyperplasia rather than metaplasia?

Accepted Answer

Increased goblet cells in the mainstem bronchus of a smoker

Answer

Squamous epithelium in the bladder of a patient with Schistosoma haematobium

Answer

Distal esophagus with glandular epithelium intermixed with squamous epithelium

Answer

Goblet and Paneth cells in the glands of the gastric mucosa

Question 8

Multifactorial inheritance is seen in which of the following conditions?

Accepted Answer

Cardiac septal defects

Answer

Neurofibroma

Answer

Hemophilia

Answer

Hypophosphatemic rickets

Question 9

Metastatic calcification is most commonly seen in which of the following locations?

Accepted Answer

Lungs

Answer

Cornea

Answer

Extensor tendon

Answer

Renal tubules

Question 10

Werner disease is associated with?

Accepted Answer

Premature ageing

Answer

Intestinal polyps

Answer

Multiple cancers

Answer

Lax joints

General Pathology — MCQs

General Pathology — MCQs

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