Background: For women presenting with stable chest pain (SCP), the appropriate risk assessment strategy to identify individuals unlikely to benefit from further cardiovascular imaging testing (CIT) is debatable. Thus, the present study intended to compare two risk assessment strategies in these individuals. Methods: 2592 women with SCP who underwent coronary computed tomography angiography (CCTA) were divided into low and high risk group according to 2016 National Institute of Health and Care Excellence guideline-determined strategy (NICE strategy) and 2019 European Society of Cardiology guideline-determined strategy (ESC strategy), respectively. The associations of coronary artery disease (CAD), major adverse cardiovascular event (MACE) and other subsequent clinical outcomes with risk groups and net reclassification improvement (NRI) were evaluated to compare different strategies. Results: Both NICE strategy which focused on symptom evaluation and ESC strategy which was based on pretest probability (PTP) determined by ESC-PTP model and coronary artery calcium score-weighted clinical likelihood (CACS-CL) model classified a proportion (34.49% and 63.97%, respectively) of individuals into the low risk group. Compared to NICE strategy, ESC strategy indicated stronger associations between risk groups and obstructive CAD (odds ratio: 27.63 versus 3.57), MACE (hazard ratios: 4.24 versus 1.91), more intensive clinical management as well as a positive NRI (27.71%, p < 0.0001). Conclusion: Compared to NICE strategy, ESC strategy which sequentially incorporated ESC-PTP model with CACS-CL model seemed to be associated with greater effectiveness in identifying individuals who may derive maximum benefit from further CIT in women presenting with SCP.
Background: Maffucci syndrome is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas. It is associated with an increased risk of the development of malignant tumors. We present a case of 45-year-old man with Maffucci syndrome to supplement the clinical manifestations and explore the molecular mechanism of Maffucci syndrome.Results: The patient was underwent amputation surgery to inhibit tumor development and diagnosed as Maffucci syndrome with 1-2 grade giant chondrosarcoma in the left ankle. In addition, the whole exon analysis by Next Generation Sequencing revealed isocitrate dehydrogenase 1 R132C mutation in chondrosarcoma lesions but not in blood DNA. Conclusions: This case report presents the genetic evidence for the inclusion of chondrosarcoma among tumors characterizing Maffucci syndrome. Consequently, it is suggested that patients with Maffucci syndrome should be followed up more actively to exclude neoplasms due to IDH1 R132C somatic mutation.
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