A 2-year-old girl presents to the pediatrician with an itchy rash. Her mother reports that she has had a crusty rash on the face and bilateral upper extremities intermittently for the past 2 months. The child's past medical history is notable for 3 similar episodes of severely itchy rashes since birth. She has also had 2 non-inflamed abscesses on her arms over the past year. Her temperature is 98.9°F (37.2°C), blood pressure is 108/68 mmHg, pulse is 94/min, and respirations are 18/min. On exam, she appears uncomfortable and is constantly itching her face and arms. There is an eczematous rash on the face and bilateral upper extremities. Her face has thickened skin with a wide-set nose. This patient's condition is most likely caused by a mutation in which of the following genes?
ASTAT3
BIL-12 receptor
CWAS
DLYST
EAdenosine deaminase
A research team develops a new monoclonal antibody checkpoint inhibitor for advanced melanoma that has shown promise in animal studies as well as high efficacy and low toxicity in early phase human clinical trials. The research team would now like to compare this drug to existing standard of care immunotherapy for advanced melanoma. The research team decides to conduct a non-randomized study where the novel drug will be offered to patients who are deemed to be at risk for toxicity with the current standard of care immunotherapy, while patients without such risk factors will receive the standard treatment. Which of the following best describes the level of evidence that this study can offer?
ALevel 1
BLevel 3
CLevel 5
DLevel 4
ELevel 2
A 70-year-old man presents to his physician for evaluation of fullness and swelling of the left side of the abdomen over the last month. During this time, he has had night sweats and lost 2 kg (4.4 lb) unintentionally. He has no history of severe illness and takes no medications. The vital signs include: blood pressure 115/75 mm Hg, pulse 75/min, and temperature 36.8℃ (98.2℉). The abdomen has asymmetric distention. Percussion and palpation of the left upper quadrant reveal splenomegaly. No lymphadenopathy is detected. Heart and lung examination shows no abnormalities. The laboratory studies show the following: Hemoglobin 9.5 g/dL Mean corpuscular volume 95 μm3 Leukocyte count 8,000/mm3 Platelet count 240,000/mm3 Ultrasound shows a spleen size of 15 cm, mild hepatomegaly, and mild ascites. The peripheral blood smear shows teardrop-shaped and nucleated red blood cells (RBCs) and immature myeloid cells. Marrow is very difficult to aspirate but reveals hyperplasia of all 3 lineages. The tartrate-resistant acid phosphatase (TRAP) test is negative. The cytogenetic analysis is negative for translocation between chromosomes 9 and 22. Which of the following laboratory findings is most likely to be present in this patient?
AMonoclonal elevation of IgG
BHair-like cell-membrane projections
CJAK2 mutation
DPhiladelphia chromosome
EReed-Sternberg cells
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