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Sclerotic bone lesions as a potential imaging biomarker for the diagnosis of tuberous sclerosis complex.
Scientific Reports ( IF 4.6 ) Pub Date : 2018-01-17 , DOI: 10.1038/s41598-018-19399-7 Susanne Brakemeier , Lars Vogt , Lisa C. Adams , Bianca Zukunft , Gerd Diederichs , Bernd Hamm , Klemens Budde , Kai-Uwe Eckardt , Marcus R. Makowski
Scientific Reports ( IF 4.6 ) Pub Date : 2018-01-17 , DOI: 10.1038/s41598-018-19399-7 Susanne Brakemeier , Lars Vogt , Lisa C. Adams , Bianca Zukunft , Gerd Diederichs , Bernd Hamm , Klemens Budde , Kai-Uwe Eckardt , Marcus R. Makowski
Tuberous-sclerosis-complex (TSC) is associated with a high lifetime risk of severe complications. Clinical manifestations are largely variable and diagnosis is often missed. Sclerotic-bone-lesions (SBL) could represent a potential imaging biomarker for the diagnosis of TSC. In this study, computed tomography (CT) data sets of 49 TSC patients (31 females) were included and compared to an age/sex matched control group. Imaging features of SBLs included frequency, size and location pattern. Sensitivities, specificities and cutoff values for the diagnosis of TSC were established for the skull, thorax, and abdomen/pelvis. In TSC patients, 3439 SBLs were detected, including 665 skull SBLs, 1426 thoracal SBLs and 1348 abdominal/pelvic SBLs. In the matched control-collective, 157 SBLs could be found. The frequency of SBLs enabled a reliable differentiation between TSC patients and the control collective with the following sensitivities and specificities. Skull: ≥5 SBLs, 0.783, 1; thorax: ≥4 SBLs, 0.967, 0.967; abdomen/pelvis: ≥5 SBLs: 0.938, 0.906. SBL size was significantly larger compared to controls (p < 0.05). Based on the frequency, size and location pattern of SBLs TSC can be suspected. SBLs may serve as a potential imaging biomarker in the workup of TSC patients.
中文翻译:
硬化性骨病变可作为诊断结节性硬化症的潜在成像生物标志物。
结节性硬化症(TSC)与严重并发症的一生高风险相关。临床表现变化很大,常常错过诊断。硬化性骨病变(SBL)可能代表了诊断TSC的潜在成像生物标志物。在这项研究中,纳入了49例TSC患者(31名女性)的计算机断层扫描(CT)数据集,并将其与年龄/性别匹配的对照组进行比较。SBL的成像功能包括频率,大小和位置模式。确定了颅骨,胸部和腹部/骨盆的TSC诊断敏感性,特异性和临界值。在TSC患者中,检测到3439个SBL,包括665个颅骨SBL,1426个胸腔SBL和1348个腹腔/盆腔SBL。在匹配的对照组中,可以找到157个SBL。SBL的出现频率使TSC患者与对照组之间能够可靠地区分,并具有以下敏感性和特异性。颅骨:≥5个SBL,0.783,1; 胸部:≥4个SBL,0.967,0.967; 腹部/骨盆:≥5个SBL:0.938,0.906。与对照相比,SBL的大小明显更大(p <0.05)。基于SBL的频率,大小和位置模式,可以怀疑TSC。SBLs可能在TSC患者的检查中作为潜在的成像生物标志物。
更新日期:2018-01-17
中文翻译:
硬化性骨病变可作为诊断结节性硬化症的潜在成像生物标志物。
结节性硬化症(TSC)与严重并发症的一生高风险相关。临床表现变化很大,常常错过诊断。硬化性骨病变(SBL)可能代表了诊断TSC的潜在成像生物标志物。在这项研究中,纳入了49例TSC患者(31名女性)的计算机断层扫描(CT)数据集,并将其与年龄/性别匹配的对照组进行比较。SBL的成像功能包括频率,大小和位置模式。确定了颅骨,胸部和腹部/骨盆的TSC诊断敏感性,特异性和临界值。在TSC患者中,检测到3439个SBL,包括665个颅骨SBL,1426个胸腔SBL和1348个腹腔/盆腔SBL。在匹配的对照组中,可以找到157个SBL。SBL的出现频率使TSC患者与对照组之间能够可靠地区分,并具有以下敏感性和特异性。颅骨:≥5个SBL,0.783,1; 胸部:≥4个SBL,0.967,0.967; 腹部/骨盆:≥5个SBL:0.938,0.906。与对照相比,SBL的大小明显更大(p <0.05)。基于SBL的频率,大小和位置模式,可以怀疑TSC。SBLs可能在TSC患者的检查中作为潜在的成像生物标志物。