Internal medicine
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We herein report a 47-year-old man with relapsing polychondritis who developed monomorphic ventricular tachycardia (VT). His electrocardiogram in sinus rhythm showed a coved-type pattern, and there was no evidence of structural cardiac disease; therefore, he was diagnosed with Brugada syndrome. ⋯ Two forms of VT were induced, which were shown to be bundle branch reentrant VT. A diagnosis of Brugada syndrome should not be ruled out in patients with monomorphic VTs, especially those with conduction abnormalities.
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As gastric neuroendocrine carcinoma (NEC) is a rapidly growing cancer, most cases are diagnosed at advanced stages. We herein report a 74-year-old woman with an early-stage gastric NEC whose history included endoscopic submucosal dissection treatment for three early-stage gastric cancer lesions five years prior to the current presentation. ⋯ An endoscopic examination during follow-up revealed an NEC (measuring 6 mm) in the gastric vestibule, for which distal gastrectomy was performed. Four months before surgery, the carcinoma exhibited specific morphological changes and lymphovascular invasion (despite the tumor being stage 1), suggesting a high-grade NEC.
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Homozygous or compound heterozygous mutations in the high-temperature requirement A serine protease 1 gene (HTRA1) cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, a very rare hereditary cerebral small-vessel disease (SVD). Recently, the relationship between some heterozygous HTRA1 mutations, most of which are missense, and the occurrence of cerebral SVD has been reported. We herein report a patient with cerebral SVD carrying a heterozygous nonsense p. ⋯ This patient had a family history of cerebral infarction. This report suggests that a heterozygous p. R302X mutation in HTRA1 causes an autosomal dominant cerebral SVD.
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Acquired factor X deficiency (AFXD) is a very rare coagulation disorder. A 40-year-old man with no comorbidities suffering from a fever, malaise, and severe hemorrhagic symptoms, including massive hematuria, was emergently admitted. ⋯ Computed tomography revealed bronchopneumonia, which improved with antibiotic administration. AFXD without evidence of amyloidosis was subsequently diagnosed.
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Histologic transformation has been described as an acquired mechanism of resistance to epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs). We herein report the case of a woman with stage IV lung adenocarcinoma harboring EGFR exon 19 deletions who was initially treated with EGFR-TKIs; several cytotoxic chemotherapeutic regimens were used when resistance developed. A lymph node re-biopsy revealed histologic transformation of the tumor to combined small-cell lung cancer and squamous cell carcinoma with retained EGFR exon 19 deletions. Following sequential chemotherapy appropriate for transformed histology, a clinical response was achieved.