Internal medicine
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Case Reports
Inflammatory Myopathy Associated with Anti-mitochondrial Antibody Presenting Only with Respiratory Failure.
A 56-year-old woman presenting with type II respiratory failure was transferred to our hospital. She did not exhibit muscle weakness or elevated serum myogenic enzymes, but needle electromyography revealed myogenic changes in the limb muscles, and her blood tests were positive for anti-mitochondrial antibodies (AMA). ⋯ After treatment with corticosteroids and noninvasive positive pressure ventilation, her symptoms improved. If a diagnosis of type II respiratory failure is difficult, inflammatory myopathy associated with AMA should be considered as a differential diagnosis.
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Congenital mutations of the Wilms' tumor 1 (WT1) gene can lead to various abnormalities, including renal/gonadal developmental disorders and cardiac malformations. Although there have been many reports of somatic WT1 mutations in patients with acute myeloid leukemia and myelodysplastic syndrome, congenital WT1 mutations have not been reported in hematological disorders. We herein report a patient with early-onset clonal cytopenia of undetermined significance that was associated with a congenital mutation of WT1 and an acquired mutation of DNMT3A [encoding DNA (cytosine-5)-methyltransferase 3A].
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Objective This retrospective study was aimed at determining whether or not stress phase bandwidth (SPBW), a left ventricular (LV) mechanical dyssynchrony index, predicts major cardiac events (MCEs) and stratifies the risk of those in patients with coronary artery disease (CAD) who undergo revascularization. Methods Patients were followed up to confirm the prognosis for at least one year. The SPBW was calculated by a phase analysis using the Heart Risk View-F software program. ⋯ Results of the multivariate analysis showed the SPBW and estimated glomerular filtration rate to be independent predictors for MCEs. In addition, the cut-off value of the SPBW significantly stratified the risk of MCEs according to the results of the Kaplan-Meier analysis. Conclusion Evaluating the SPBW before revascularization may help predict future MCEs in patients with CAD who intended to undergo treatment.
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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.