Internal medicine
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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.