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Background: Many genetic syndromes (GSs) have distinct facial dysmorphism, and facial gestalts can be used as a diagnostic tool for recognizing a syndrome. Facial recognition technology has advanced in recent years, and the screening of GSs by facial recognition technology has become feasible. This study constructed an automatic facial recognition model for the identification of children with GSs.Results: A total of 456 frontal facial photos were collected from 228 children with GSs and 228 healthy children in Guangdong Provincial People's Hospital from Jun 2016 to Jan 2021. Only one frontal facial image was selected for each participant. The VGG-16 network (named after its proposal lab, Visual Geometry Group from Oxford University) was pretrained by transfer learning methods, and a facial recognition model based on the VGG-16 architecture was constructed. The performance of the VGG-16 model was evaluated by five-fold cross-validation. Comparison of VGG-16 model to five physicians were also performed. The VGG-16 model achieved the highest accuracy of 0.8860 ± 0.0211, specificity of 0.9124 ± 0.0308, recall of 0.8597 ± 0.0190, F1-score of 0.8829 ± 0.0215 and an area under the receiver operating characteristic curve of 0.9443 ± 0.0276 (95% confidence interval: 0.9210-0.9620) for GS screening, which was significantly higher than that achieved by human experts.Conclusions: This study highlighted the feasibility of facial recognition technology for GSs identification. The VGG-16 recognition model can play a prominent role in GSs screening in clinical practice. [ABSTRACT FROM AUTHOR]

Background Transcatheter closure of coronary arterial fistula ( CAF) is being utilized increasingly as an alternative to surgical closure, but most of the literature on transcatheter closure of CAF in children and adolescents consists of case reports and reports of small series. The aim of this study was therefore to describe our experience of percutaneous closure of CAF in children and adolescents. Methods Between April 1998 and December 2012, 37 children and adolescents with congenital CAF underwent percutaneous transcatheter closure. After aortic root angiography and selective coronary angiography, a guidewire was positioned to the fistula. In some cases, an arteriovenous wire loop ( AV loop) was created. The sheath passed along the wire to the site of the desired occlusion of the fistula. One or more occlusion devices were selected to embolize the fistula. Results Occlusion devices were placed in 33 procedures (32 patients). Occlusion was unsuccessful in five patients. Duct occluders were placed in 12 procedures, coils in 11 (10 patients), muscular ventricular septal occluders in six, and vascular plugs in four procedures. The tricuspid valve was injured in two patients. One patient with a giant CAF aneurysm had a thrombosis within the aneurysm after transcatheter closure. There were no deaths, fistula dissection or myocardial infarction. Conclusion Transcatheter closure of CAF is feasible in anatomically suitable cases, but injury to the tricuspid valve involved with AV loop methods can occur in closure procedures, and thrombus formation is possible in the blind pouch of the residual fistula after closure. Long-term follow up after fistula closure is necessary. [ABSTRACT FROM AUTHOR]