Internal medicine
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Review Case Reports
Severe Acute Cholangitis and Bacteremia Due to Campylobacter jejuni: A Case Report and Review of the Literature.
Campylobacter jejuni is common cause of enteritis, but biliary infection rarely reported. An 82-year-old woman with pancreatic head cancer underwent endoscopic biliary drainage for malignant biliary obstruction. She was subsequently admitted for management of diarrhea. ⋯ She was diagnosed with acute cholangitis and bacteremia with C. jejuni. Endoscopic biliary drainage and antimicrobial administration improved her symptoms. As complications of C. jejuni diarrhea are rare, antibiotics are not necessarily indicated but sometimes are needed to prevent complications.
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Review Case Reports
Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome.
Objective Alström syndrome is an autosomal recessive genetic disease caused by a mutation in the ALMS1 gene. Alström syndrome is clinically characterized by multisystem involvement, including sensorineural deafness, cone-rod dystrophy, nystagmus, obesity, insulin resistance, type 2 diabetes and hypogonadism. The diagnosis is thus challenging for patients without this characteristic set of clinical symptoms. ⋯ A review of the ALMS1 gene nonsense mutation status was performed. Conclusion We herein report two novel variants of the ALMS1 gene discovered in a Chinese Alström syndrome patient that expand the mutational spectrum of ALMS1 and provided new insight into the molecular mechanism underlying Alström syndrome. Our findings add to the current knowledge concerning the diagnosis and treatment of Alström syndrome.
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Review Case Reports
Clinical Features of Fibrosing Mediastinitis in Japanese Patients: Two Case Reports and a Literature Review.
Fibrosing mediastinitis (FM) is a rare fibroinflammatory disease of the mediastinum with an etiology and clinical features that vary by world region. The characteristics of FM in Japan are still unknown. ⋯ We also reviewed the Japanese literature on PubMed® and summarized the characteristics of 27 Japanese FM patients, including our two patients. In Japan, the predominant cases were those without a specific cause, were diffusely distributed, and responded well to corticosteroid therapy.
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Review Case Reports
Vimentin-positive and Alpha-fetoprotein-elevated Nuclear Protein of the Testis Midline Carcinoma: A Case Report and Review of the Literature.
Nuclear protein of the testis (NUT) midline carcinoma (NMC) is a rare malignant tumor expressing NUT with BRD4/3 rearrangements and is sometimes misdiagnosed as germinoma, especially in alpha-fetoprotein (AFP)-elevated cases. A 28-year-old man had a mediastinal tumor with multiple bone metastases and elevated AFP levels. Imaging/laboratory findings led to a pathological diagnosis of extragonadal germinoma. ⋯ A posthumous examination clarified the NUT rearrangement. Even in cases with characteristic findings, such as elevated AFP levels and vimentin positivity, NMC should be considered as a differential diagnosis. We note, however, that adriamycin-ifosfamide has some efficacy in such cases.
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Review Case Reports
Persistent Working Memory Impairment Associated with Cerebral Infarction in the Anterior Cingulate Cortex: A Case Report and a Literature Review.
A 52-year-old man experienced sudden-onset global amnesia and left limb ataxia. An embolism of the right anterior cerebral artery resulted in anterior cingulate cortex (ACC) infarction, and working memory dysfunction persisted. ⋯ The areas showing a decreased activity on SPECT were responsible for the working memory, which corresponded to the observed symptoms. This is the first case in which limited ACC infarction resulted in permanent working memory dysfunction, and SPECT revealed the decreasing working memory in the associated region.