The current standard diagnostic procedure for basal cell carcinoma (BCC) is histologic examination after invasive biopsy. Reflectance- mode confocal microscopy (RCM) offers noninvasive high- resolution imaging of huma...The current standard diagnostic procedure for basal cell carcinoma (BCC) is histologic examination after invasive biopsy. Reflectance- mode confocal microscopy (RCM) offers noninvasive high- resolution imaging of human skin in vivo. The objective of this study was to explore the sensitivity and specificity of RCM for diagnosis of BCC. This was a retrospective study of RCM images from 4 institutions of 152 skin lesions representing a variety of benign and malignant diagnoses. These 152 lesions were examined clinically, with biopsies recorded for all the 83 BCCs detected. Based on a previous study, a set of 5 histologically correlated confocal imaging criteria for diagnosing BCC was established, eg, the presence of elongated monomorphic nuclei. Blinded retrospective analysis of the images from the 152 lesions was carried out by a single novice reviewer to determine the sensitivity and specificity of these 5 RCM criteria for diagnosing BCC. The accuracy of combining the probability of BCC based on examination of clinical photographs with the predicted probability of BCC based on confocal criteria was also evaluated. The presence of two or more criteria is 100% sensitive for the diagnosis of BCC, and with 4 or more RCM criteria present the specificity was 95.7% and sensitivity was 82.9% . These results were found to have little variability across study sites and across BCC subtypes. The combination of RCM with photography- based predictions of clinical probability of BCC significantly improved the accuracy for noninvasive diagnosis of BCC. RCM offers a sensitive and specific tool for the noninvasive diagnosis of BCC in vivo.展开更多
Objectives We sought to compare the arrhythmic risk and sensitivity to sympath etic stimulation of mutations located in transmembrane regions and C-terminal r egions of the KCNQ1 channel in the LQT1 form of congenital...Objectives We sought to compare the arrhythmic risk and sensitivity to sympath etic stimulation of mutations located in transmembrane regions and C-terminal r egions of the KCNQ1 channel in the LQT1 form of congenital long QT syndrome(LQTS ). Background The LQT1 syndrome is frequently manifested with variable expressiv ity and incomplete penetrance and is much more sensitive to sympathetic stimulat ion than the other forms. Methods Sixty-six LQT1 patients (27 families)-with a total of 19 transmembrane mutations and 29 patients(10 families) with 8 C-term inal mutations were enrolled from five Japanese institutes. Results Patients wit h transmembrane mutations were more frequently affected based on electrocardiogr aphic (ECG) diagnostic criteria (82%vs. 24%, p< 0.0001) and had more frequent LQTS-related cardiac events (all cardiac events: 55%vs. 21%, p=0.002; syncope : 55%vs. 21%, p=0.002; aborted cardiac arrest or unexpected sudden cardiac dea th: 15%vs. 0%, p=0.03) than those with C-terminal mutations. Patients with tr ansmembrane mutations had a greater risk of first cardiac events occurring at an earlier age, with a hazard ratio of 3.4(p=0.006) and with an 8%increase in ris k per 10-ms increase in corrected Q-Tend. The baseline ECG parameters, includi ng Q-Tend, Q-Tpeak, and Tpeak-end intervals, were significantly greater in pa tients with transmembrane mutations than in those with C-terminal mutations (p< 0.005) . Moreover, the corrected Q-Tend and Tpeak-end were more prominently i ncreased with exercise in patients with transmembrane mutations (p< 0.005). Conc lusions In this multicenter Japanese population, LQT1 patients with transmembran e mutations are at higher risk of congenital LQTS-related cardiac events and ha ve greater sensitivity to sympathetic stimulation, as compared with patients wit h C-terminal mutations.展开更多
文摘The current standard diagnostic procedure for basal cell carcinoma (BCC) is histologic examination after invasive biopsy. Reflectance- mode confocal microscopy (RCM) offers noninvasive high- resolution imaging of human skin in vivo. The objective of this study was to explore the sensitivity and specificity of RCM for diagnosis of BCC. This was a retrospective study of RCM images from 4 institutions of 152 skin lesions representing a variety of benign and malignant diagnoses. These 152 lesions were examined clinically, with biopsies recorded for all the 83 BCCs detected. Based on a previous study, a set of 5 histologically correlated confocal imaging criteria for diagnosing BCC was established, eg, the presence of elongated monomorphic nuclei. Blinded retrospective analysis of the images from the 152 lesions was carried out by a single novice reviewer to determine the sensitivity and specificity of these 5 RCM criteria for diagnosing BCC. The accuracy of combining the probability of BCC based on examination of clinical photographs with the predicted probability of BCC based on confocal criteria was also evaluated. The presence of two or more criteria is 100% sensitive for the diagnosis of BCC, and with 4 or more RCM criteria present the specificity was 95.7% and sensitivity was 82.9% . These results were found to have little variability across study sites and across BCC subtypes. The combination of RCM with photography- based predictions of clinical probability of BCC significantly improved the accuracy for noninvasive diagnosis of BCC. RCM offers a sensitive and specific tool for the noninvasive diagnosis of BCC in vivo.
文摘Objectives We sought to compare the arrhythmic risk and sensitivity to sympath etic stimulation of mutations located in transmembrane regions and C-terminal r egions of the KCNQ1 channel in the LQT1 form of congenital long QT syndrome(LQTS ). Background The LQT1 syndrome is frequently manifested with variable expressiv ity and incomplete penetrance and is much more sensitive to sympathetic stimulat ion than the other forms. Methods Sixty-six LQT1 patients (27 families)-with a total of 19 transmembrane mutations and 29 patients(10 families) with 8 C-term inal mutations were enrolled from five Japanese institutes. Results Patients wit h transmembrane mutations were more frequently affected based on electrocardiogr aphic (ECG) diagnostic criteria (82%vs. 24%, p< 0.0001) and had more frequent LQTS-related cardiac events (all cardiac events: 55%vs. 21%, p=0.002; syncope : 55%vs. 21%, p=0.002; aborted cardiac arrest or unexpected sudden cardiac dea th: 15%vs. 0%, p=0.03) than those with C-terminal mutations. Patients with tr ansmembrane mutations had a greater risk of first cardiac events occurring at an earlier age, with a hazard ratio of 3.4(p=0.006) and with an 8%increase in ris k per 10-ms increase in corrected Q-Tend. The baseline ECG parameters, includi ng Q-Tend, Q-Tpeak, and Tpeak-end intervals, were significantly greater in pa tients with transmembrane mutations than in those with C-terminal mutations (p< 0.005) . Moreover, the corrected Q-Tend and Tpeak-end were more prominently i ncreased with exercise in patients with transmembrane mutations (p< 0.005). Conc lusions In this multicenter Japanese population, LQT1 patients with transmembran e mutations are at higher risk of congenital LQTS-related cardiac events and ha ve greater sensitivity to sympathetic stimulation, as compared with patients wit h C-terminal mutations.
