Q1303. In the following pressure-volume curve of the bladder, what is the physiological basis for the segment labeled Ib?

Q1305. A patient undergoes a surgery where one lung is removed due to malignancy. Which of the following parameters should be measured to accurately assess the remaining lung's elasticity, independent of the change in lung volume?

Q1308. and buttocks. Laboratory evaluation reveals markedly elevated serum triglyceride levels with a predominance of chylomicrons even in the fasting state. There is no significant elevation of LDL cholesterol. Which of the following defects is the most likely underlying cause of this condition?

Q1309. A patient presents with joint pain and hepatomegaly. Histopathological examination reveals abnormal deposition of glycolipids and glycoconjugates. What is the most likely subcellular organelle involved in this deposition?

Q1310. A 9-month-old child presents to the pediatric OPD with anemia, failure to thrive, and hepatomegaly. Histopathological examination shows macrophages with a “crumpled tissue paper–like” cytoplasm due to cerebroside accumulation. What is the most likely diagnosis?

Q1311. A patient presents with retinitis pigmentosa, ataxia, ichthyosis, and cardiac conduction defects. Laboratory results show increased peroxisomal deposition of phytanic acid. What is the most likely diagnosis?

Q1312. A young boy is brought to the pediatric clinic with developmental delay, dystonia, hyperuricemia, and a striking history of self-mutilating behavior such as biting of lips and fingers. There is also a family history of a similar illness in male relatives. Which of the following enzymes is defective in this disorder?

Q1313. A child presents to pediatric OPD with hepatosplenomegaly. On examination histopathological examination shows foam cells in bone marrow due to lipid accumulation. What is the most likely diagnosis?

Q1314. A newborn infant develops vomiting, jaundice, and failure to thrive. On labs UPG Ill to CPG conversion is affected. Which of the following enzyme is likley defective?

Q1315. A 4-month-old infant is brought with poor feeding, failure to thrive, and progressive hypotonia. On examination, the baby has macroglossia and signs of cardiomegaly. Echocardiography reveals hypertrophic cardiomyopathy. Laboratory evaluation shows deficiency of acid maltase. What is the most likely diagnosis?

Q1316. severe sepsis. He presents with acute onset dyspnea, hypoxemia refractory to oxygen therapy, and difuse bilateral infiltrates on chest X-ray. Which of the following components of pulmonary surfactant is primarily deficient or inactivated in this condition?

Q1317. receptors. The hormone–receptor complex then translocates to the nucleus and binds to specific DNA sequences to regulate gene transcription. Which of the following DNA- binding motifs enables steroid hormone receptors to attach to their target sites on DNA?

Q1318. of life. Laboratory investigations reveal severe hyperammonemia, low citrulline levels, elevated plasma glutamine, and normal orotic acid levels in urine. There is no evidence of metabolic acidosis or hypoglycemia. What is the most likely diagnosis?

Q1319. A middle-aged man presents with photosensitivity, recurrent blistering lesions over sun-exposed areas, skin fragility, and hyperpigmentation. Laboratory evaluation reveals accumulation of uroporphyrins in urine. Which of the following enzymes is defective in this condition?

Q1321. weakness for 2 weeks. Complete blood count shows anemia and thrombocytopenia with marked leukocytosis. Peripheral blood smear reveals the following. Immunophenotyping demonstrates strong positivity for CD13 and CD33, while CD19 is negative. What is the most likely diagnosis?

Q1322. adolescence. On examination, he has pallor, frontal bossing, and hepatosplenomegaly. Laboratory investigations reveal hemoglobin of 7.5 g/dL with markedly reduced MCV and MCH. Peripheral blood smear reveals the following. What is the most likely underlying diagnosis responsible for these peripheral smear findings?

Q1324. A 50-year-old man presents with progressive weight loss, easy fatigability, and bleeding tendency. On examination, he has splenomegaly. Laboratory investigations show marked leukocytosis, peripheral smear with left shift and basophilia. What is the drug of choice for management of this condition?

Q1325. Patient complains of headache is being evaluated and found to have a brain tumor. HPE reveals tumor composed of Antoni A and B areas. Which among the following s an IHC marker positive in this tumor?

Q1326. 11 A biopsy slide shows a granulomatous lesion in a patient with langerhan cell histiocytosis . Which of the following cytokines is primarily responsible for maintaining granulomas by activating macrophages?