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Case 3-2025: A 54-Year-Old Man with Exertional Dyspnea and Chest Pain.

N Engl J Med

January 2025

From the Department of Medicine, Northwestern Memorial Hospital, Chicago (C.W.Y.); and the Departments of Medicine (J.S.G., A.J.Y.), Radiology (B.G.G.), and Pathology (B.M.H.), Massachusetts General Hospital, the Departments of Medicine (J.S.G., R.H.F., A.J.Y.), Radiology (B.G.G.), and Pathology (B.M.H.), Harvard Medical School, and the Department of Medicine, Brigham and Women's Hospital (R.H.F.) - all in Boston.

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Background: Perception-related errors comprise most diagnostic mistakes in radiology. To mitigate this problem, radiologists use personalized and high-dimensional visual search strategies, otherwise known as search patterns. Qualitative descriptions of these search patterns, which involve the physician verbalizing or annotating the order he or she analyzes the image, can be unreliable due to discrepancies in what is reported versus the actual visual patterns.

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Fanconi anemia (FA) is a rare genetic disorder that affects multiple systems in the body and is the most prevalent congenital syndrome, leading to bone marrow failure. Twenty-two genes have been identified as contributors to the disease. Significant advancements have been made in the past 2 decades in understanding the genetic and pathophysiological processes involved.

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