Q1579. A woman from Delhi travels to Ladakh, a high-altitude region. Soon after arrival, she develops symptoms such as breathlessness, headache, and lightheadedness. What is the primary underlying mechanism responsible for her symptoms?

Q1580. In malignant hyperthermia, a genetic mutation in the ryanodine receptor (RYR1) leads to a life-threatening reaction to certain anesthetic agents. What is the primary ionic abnormality caused by this receptor defect?

Q1582. A man presents with elevated VLDL and chylomicrons, along with eruptive xanthomas. What is the most likely diagnosis?

Q1583. A breastfed infant presents with lethargy, hepatomegaly, and cataracts. Which enzyme deficiency is most likely responsible for this presentation?

Q1585. A family consumes a diet predominantly composed of rice and pulses and has developed signs of muscle weakness and movement issues. Which of the following supplements should be given prophylactically?

Q1586. Which of the following acts as a major intracellular antioxidant and helps detoxify reactive oxygen species?

Q1587. vomiting, and poor feeding following prolonged fasting. Laboratory results show hypoglycemia, low ketone levels (hypoketosis), and mild hepatomegaly. These findings suggest a defect in fat metabolism. What is the most likely underlying disorder?

Q1588. A 2-month-old infant presents with poor feeding, vomiting, and lethargy. Laboratory studies reveal hyperammonemia and elevated levels of orotic acid in the urine. Which enzyme deficiency is most likely?

Q1589. reveal megaloblastic anemia. Further metabolic testing shows elevated serum homocysteine and decreased plasma cysteine levels. Serum methylmalonic acid is normal. There are no neurological symptoms.Which of the following is the most likely cause of his condition?

Q1598. HPV most commonly causes which of the following head and neck cancers?

Q1601. symptoms like fever and weight loss. Lymph node biopsy reveals large atypical lymphoid cells. Genetic studies show a chromosomal translocation commonly seen in anaplastic large cell lymphoma. Choose the correct translocation is seen in this condition?

Q1602. A woman presents to the clinic 2 weeks after being bitten by a dog. The dog died 1 week after the bite. She is concerned about potential rabies infection. How can the rabies virus be detected in this patient?

Q1604. The tumor suppressor protein p53 promotes apoptosis by increasing the expression of which of the following pro-apoptotic genes?

Q1605. Marfan syndrome is caused by mutations in which of the following genes?

Q1607. Bernard-Soulier syndrome is caused by a defect in which of the following platelet glycoproteins?

Q1608. A 25-year-old male presents with headaches and visual disturbances. MRI of the brain reveals a cerebellar hemangioblastoma, and abdominal imaging shows a solid renal mass suspicious for renal cell carcinoma. Family history reveals similar findings in a sibling.Which of the following is the most likely diagnosis?

Q1609. A newborn presents with hypotonia, upward slanting palpebral fissures, a round facial profile, flat nasal bridge, and curved small fingers. What is the most likely diagnosis?

Q1610. and gradually worsening renal dysfunction. He now has proteinuria and signs of nephrotic syndrome. A renal biopsy is performed. On Congo red staining, amorphous eosinophilic deposits are seen, which show apple green birefringence under polarized light.What is the most likely diagnosis?

Q1612. In pap smear, which of the following is the most appropriate fixative used to preserve cellular details after smearing?