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Importance of Genetic Testing in the Diagnosis of Transthyretin Cardiac Amyloidosis

To the Editor: Systemic amyloidosis results from extracellular deposition of fibrillar material derived from aggregation of precursor proteins into insoluble beta-pleated sheets. The most frequently recognized types are due to prolonged inflammation, deposition of immunoglobulin light chains, and accumulation of transthyretin, a tetrameric protein synthesized in the liver. Transthyretin amyloidosis can occur owing to wild-type […]

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Polymyalgia Rheumatica with Normal Inflammatory Markers

A 70-year-old man presented with pain in his shoulders, low back, and thighs for 1 year. He had difficulties when changing clothes, taking a bath, and getting out of bed because all these body movements aggravated the pain. He also experienced morning stiffness for 1 hour. Although his weight decreased by 5 kg because of loss […]

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Diabetic Cystopathy with Bilateral Hydronephrosis

A 40-year-old man with poorly controlled diabetes mellitus (glycated hemoglobin 19%) with related peripheral neuropathy, nephropathy, and proliferative retinopathy presented with epigastric discomfort, anorexia, polyuria, polydipsia, nausea, and diminished urine output. His longstanding use of insulin was halted in the preceding month owing to termination of employment and loss of health insurance coverage. Examination revealed […]

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Atypical Cause of Functional Decline in Parkinson’s Disease

A 74-year-old Chinese man with past medical history of Parkinson’s disease presented with rapid functional decline over 2 months. From being able to ambulate independently, he had become bedridden and was dependent in activities of daily living. On admission, he was also noted to be coughing on eating and had visual hallucinations for 2 weeks […]

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Segmental Arterial Mediolysis: An Important but Often Overlooked Cause of Multi-Vessel Thrombosis

A 52-year-old man with a past medical history significant for hypercholesterolemia and systemic hypertension presented to an outside hospital with acute-onset, diffuse abdominal and bilateral flank pain without fever, constitutional symptoms of infection, or vomiting. On physical examination, abdominal tenderness was present, but abdominal guarding, peritoneal signs, and costovertebral angle tenderness were absent. Computed tomography […]

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