Internal medicine
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Case Reports
Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant.
We encountered a 27-year-old Japanese woman with sensorineural deafness progressing to motor and sensory neuropathy. At 16 years old, she had developed weakness in her lower extremities and hearing impairment, which gradually deteriorated. At 22 years old, combined audiological, electrophysiological, and radiological examination results were consistent with auditory neuropathy spectrum disorder (ANSD). ⋯ Pro600Arg). Although sensorineural deafness has been reported as a clinical manifestation of ATP1A1-related disorders, our case suggested that ANSD may underlie the pathogenesis of deafness in ATP1A1-related disorders. This case report broadens the genotype-phenotype spectrum of ATP1A1-related disorders.
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Streptococcal toxic shock syndrome (STSS) caused by Streptococcus dysgalactiae subsp. equisimilis (SDSE)-related empyema is rare but can result in shock vitals, acute kidney injury, and extensive erythema. In the present case, a 92-year-old woman with empyema caused by SDSE developed STSS after pleural drainage and antibiotic therapy. Despite temporary improvement with clindamycin and pleural drainage, the patient ultimately died due to malnutrition. Autopsy findings suggested that the infection was well controlled, but infections with Streptococcus spp., including SDSE, can trigger STSS in patients with empyema.
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Nontuberculous mycobacterial (NTM) infection sometimes leads to the development of pulmonary artery aneurysm (PAA), a rare but life-threatening complication. We herein report a 64-year-old woman with a history of NTM infection who presented with severe hemoptysis. ⋯ This case emphasizes the need to consider PAA in patients with NTM infection who present with hemoptysis. Early detection and appropriate management are critical for preventing this fatal complication.
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Objective Primary hepatobiliary neuroendocrine neoplasms (NENs) are rare tumors exhibiting several morphological and behavioral characteristics. Considering the lack of relevant data on this topic, we evaluated the clinicopathological features and treatment outcomes of patients with primary hepatobiliary NENs. Methods/Patients We examined 43 consecutive patients treated at the National Cancer Center Hospital with pathological diagnoses of primary hepatobiliary NEN between 1980 and 2016. ⋯ Conclusion The NET-to-NEC ratio and tumor stage distribution at the diagnosis differed depending on the primary site. Patients with G1 and G2 NETs who underwent surgical resection had good prognoses, whereas those with NEC exhibited more advanced disease and poorer prognoses. The performance status, staging classification, and tumor grade are important factors to consider when devising an appropriate treatment strategy and predicting the prognoses of patients with primary hepatobiliary NEN.
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Case Reports
Pleomorphic Liposarcoma Initially Presenting with Multiple Organ Involvement Including the Heart.
A 42-year-old man visited our hospital due to a gradually swelling subcutaneous mass on the back of the right shoulder. The biopsy specimen was diagnosed pathologically as pleomorphic liposarcoma. ⋯ However, newly developed lung metastases grew rapidly during subsequent cycles of chemotherapy, and the patient died 10 months after the initial diagnosis. The initial presentation of multiple organ involvement, including the heart, is a rare clinical manifestation of pleomorphic liposarcoma.