Internal medicine
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Case Reports
FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan.
Primary ciliary dyskinesia (PCD) is a genetic disease characterized by motile cilia dysfunction, mostly inherited in an autosomal recessive or X-linked manner. We herein report a 29-year-old woman with PCD caused by a heterozygous frameshift mutation due to a single nucleotide deletion in exon 3 of FOXJ1. Heterozygous de novo mutations in FOXJ1 have been reported as an autosomal-dominant cause of PCD. ⋯ However, the nasal nitric oxide level was normal. Long-term macrolide therapy was remarkably effective. This is the first case report of PCD caused by a FOXJ1 variant in Japan.
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Case Reports
A Case of Recurrent Verruconis gallopava Infection at One Year after Excision of a Solitary Pulmonary Lesion.
We herein report a case of recurrent infection caused by Verruconis gallopava, which is known to cause fatal phaeohyphomycosis. A 71-year-old man presented with a fever, and computed tomography revealed right chest wall thickening. ⋯ On this occasion, right chest wall surgery was performed to investigate the cause of the fever, which led to the diagnosis of recurrent infection. Even if a localized lesion is excised, additional antifungal therapy should be performed.
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We present the case of a 61-year-old man who developed coronavirus disease 2019 (COVID-19) and died during treatment for relapsing polychondritis. The patient was intubated and treated with steroid pulse therapy, remdecivir, antibacterial agents, baricitinib, and tocilizumab. ⋯ An autopsy revealed diffuse alveolar damage in the fibrotic phase in all lung lobes, diffuse pulmonary ossification, and cytomegalovirus-infected cells in the middle lobe of the right lung. We herein discuss the clinical features and pathological findings of COVID-19 in immunosuppressed patients.
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A Japanese woman presented with gastric antral ulcers accompanied by erosion and edema, demonstrating a chronic pattern of improvement and recurrence for more than six years. The patient had no relevant treatment history, and Helicobacter pylori infection was ruled out. ⋯ Consequently, the patient was diagnosed with idiopathic gastric antral ulcer. This disease is often overlooked, and the chronological endoscopic images provided in this report can be used as a reference.
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A case in which a foreign body located in the peripheral airway of the lung was removed by flexible bronchoscopy using a virtual bronchoscopy navigation (VBN) system has been reported. The patient was a 60-year-old man. ⋯ Chest computed tomography with 1.0-mm slices was used to create a VBN system and confirm the foreign body in left B9biiαy, which was removed by flexible bronchoscopy. Thus, peripheral foreign bodies can be safely removed using flexible bronchoscopy by creating a VBN system in advance.