Internal medicine
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A 53-year-old immunocompetent man was admitted to our hospital because of paroxysmal cough with a low fever for more than 5 months. On admission, chest computed tomography showed multiple plaques and nodules, some with small central cavities, in both lungs and cystic and columnar bronchiectasis of the right middle bronchus. Treatment with various antibiotics was ineffective. ⋯ After administration of trimethoprim-sulfamethoxazole for 5 weeks, chest computed tomography showed a significant reduction in the lung lesions that had been detected on admission. Immunosuppressed patients are particularly prone to nocardiosis infection, which is usually severe. N. terpenica has rarely been detected in clinical samples, and its characteristics require further study with the accumulation of more clinical cases.
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Desminopathy is a cardiac and skeletal myopathy caused by disease-causing variants in the desmin (DES) gene and represents a subgroup of myofibrillar myopathies, where cytoplasmic desmin-postive immunoreactivity is the pathological hallmark. We herein report a 28-year-old Japanese man who was initially diagnosed with sporadic hypertrophic cardiomyopathy with atrioventricular block at 9 years old and developed weakness in the soft palate and extremities. ⋯ Genetic testing confirmed a de novo mutation of DES, which has already been linked to desminopathy. As the molecular diagnosis of desminopathy is challenging, particularly if patients show predominantly cardiac signs and a routine skeletal muscle biopsy is unavailable, these characteristic pathological findings of endomyocardial proteinase K-resistant desmin aggregates might aid in clinical practice.