A 2-year-old child has a history of multiple bone fractures with minor trauma. On examination, he has hepatosplenomegaly and palsies involving cranial nerves II, VII, and VIII. Laboratory studies show pancytopenia. Radiographs reveal diffusely and symmetrically sclerotic bones with poorly formed metaphyses. Molecular analysis of his bone reveals a defect in the production of carbonic anhydrase to solubilize hydroxyapatite crystal. He is treated with hematopoietic stem cell transplantation. Which of the following cells in his bones was most likely functionally deficient and replaced following transplantation?
A 40-year-old man presents with central obesity, "buffalo hump," and violaceous purple striae on his abdomen. His fasting blood glucose levels are in the high normal range. Plasma levels of ACTH and cortisol are both increased compared to normal. An overnight high-dose dexamethasone suppression test produces 75% suppression of cortisol levels. What is the most likely diagnosis for this patient?
Which stain is used to identify Gaucher cells?
A 32-year-old woman has been attempting to become pregnant for the past 2 years without success. She also has had extremely painful menstrual cramping of many years' duration. An exploratory laparoscopy demonstrated multiple red-blue nodules covering the surface of her ovaries and uterine ligaments. These findings are most likely indicative of which of the following conditions?
Fine Needle Aspiration Biopsy is indicated to diagnose which of the following conditions?
Tadpole cells are seen in which of the following conditions?
What stain is used to detect amyloid?
FNAC is not useful in which type of thyroid cancer?
A 47-year-old man presents with a 4-month history of dull, constant pain in the midsection of the right thigh. Physical examination reveals pain on palpation of the anterior right thigh, exacerbated by movement, and a larger circumference of the right thigh compared to the left. Radiography shows no fracture but an ill-defined soft-tissue mass anterior to the femur. MRI reveals a 10x8x7 cm solid mass deep to the quadriceps, without femur involvement. Karyotypic analysis of tumor cells shows t(12;16)(q13;p11) with amplification of the MDM2 gene. What is the most likely diagnosis?
A 10-day-old infant presents with projectile vomiting. His mother states that the infant will actively drink his milk, but he forcefully vomits after each feeding. The infant shows signs of failure to thrive, with weight loss, dehydration, and lethargy. Physical examination reveals a firm, nontender, mobile, "olive-shaped" epigastric mass. Which of the following is the most likely diagnosis?
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