Background: Careful preoperative planning in thoracic surgery is essential for positive outcomes especially in video assisted thoracic surgery (VATS) where palpation and 3-dimensional imaging is restricted. The objective of this study was to evaluate the ability of different imaging techniques such as Computerized Tomography (CT) scanning, maximal intensity projection (MIP) imaging, 3dimensional (3D) reconstruction as well as 3D printing, to define the anatomy of the hilar structures prior to anatomical lung resection. Methods: All patients undergoing elective lung resections by VATS for cancer under a single surgeon were identified over a three-month period. A single surgeon was asked to record the number of pulmonary artery branches supplying the lobe to be resected using the preoperative CT scan, MIP images and 3D reconstructed CT images. 3 patients had their lung hilum printed. These were then compared to the intraoperative findings. Results: 16 patients had their preoperative imaging analyzed. A further 3 patients had their lung hilum 3D printed. Although not statistically significant, the 3D prints of the hilum were found to be the most accurate measurement with a correlation of 0.92. CT, 3D reconstructed CT and MIP images tended to under recognize the number of arterial branches and therefore scored between 0.26 and 0.39 in terms of absolute agreement with the number of arteries found at operation. Conclusions: 3D printing in the planning of thoracic surgery may suggest a benefit over contemporary available imaging modalities and the use of 3D printing in practicing operations is being established.
Weaver syndrome is a rare overgrowth syndrome with distinct facial features in young children and variable learning disability. Heterozygous missense mutations in EZH2 are present in over 90% of patients with Weaver syndrome but the exact mechanism by which EZH2 mutations cause Weaver syndrome is unknown. We report an 11-year-old boy with a de novo 1.2-Mb deletion at 7q36.1 including EZH2 who has tall stature, significant intellectual disability, and some physical features of Weaver syndrome. Emerging evidence in the literature indicates that Weaver syndrome EZH2 mutations may result in loss of function of the gene and our report suggests that haploinsufficiency of EZH2 may replicate the clinical phenotype of Weaver syndrome.
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