How to Omit the Potential Pitfalls in Distal Radial Access: Lessons From Cadaveric and CTA Analysis.

OBJECTIVES: To verify the anatomical basis, ideal puncture sites, and potential pitfalls of the distal radial artery (dRA) in the anatomical snuffbox region for distal radial access (dTRA). MATERIALS AND METHODS: Overall, 26 formalin-fixed upper limbs and computed tomography angiography (CTA) of the upper limbs of 168 consecutive patients were studied. Cadaveric dissection and dRA 3D reconstruction were used to evaluate the dRA route for dTRA. The puncture sites, dRA diameter, and angle of the dRA and tendons of the extensor pollicis brevis were also measured in the patients and cadavers. RESULTS: The cadaver dissection provided more insights than did the dRA 3D reconstruction. However, preoperative evaluation had better diagnostic accuracy (p=0.024). Puncture sites 1 and 3 had a high success rate (63.2% possible success rate, 191/302). The DISFAVOR theory was put forward, in which 8 types of potential pitfalls that may interrupt puncture procedure or lead to a surgical failure were observed, including occlusion, stenosis, tortuosity, arteriovenous fistula, angioma, different radial artery (RA) ramifications, radial veins, and cephalic veins. The mean diameter of dRA based on cadaver dissection and CTA was 2.53 (SD=0.73) and 2.63 (SD=0.69) mm, respectively. Furthermore, the minimum distance from the outer layer of dRA to the skin was 5.71 (SD=2.0) mm based on CTA. The angle between the dRA and tendons of extensor pollicis brevis (TEPB) based on cadaver dissection and CTA was 58.0° (SD=21.5°) and 51.8° (SD=16.6°), respectively. CONCLUSIONS: Puncture sites 1 and 3 were more suitable for the dTRA, and we put forward the DISFAVOR theory to summarize the 8 types of potential pitfalls during the use of dTRA.

Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES).

BACKGROUND Recently, mutations in several genes have been described to be associated with sporadic ASD, but some genetic variants remain to be identified. The aim of this study was to use whole-exome sequencing (WES) combined with bioinformatics analysis to identify novel genetic variants in cases of sporadic congenital ASD, followed by validation by Sanger sequencing. MATERIAL AND METHODS Five Han patients with secundum ASD were recruited, and their tissue samples were analyzed by WES, followed by verification by Sanger sequencing of tissue and blood samples. Further evaluation using blood samples included 452 additional patients with sporadic secundum ASD (212 male and 240 female patients) and 519 healthy subjects (252 male and 267 female subjects) for further verification by a multiplexed MassARRAY system. Bioinformatic analyses were performed to identify novel genetic variants associated with sporadic ASD. RESULTS From five patients with sporadic ASD, a total of 181,762 genomic variants in 33 exon loci, validated by Sanger sequencing, were selected and underwent MassARRAY analysis in 452 patients with ASD and 519 healthy subjects. Three loci with high mutation frequencies, the 138665410 FOXL2 gene variant, the 23862952 MYH6 gene variant, and the 71098693 HYDIN gene variant were found to be significantly associated with sporadic ASD (P<0.05); variants in FOXL2 and MYH6 were found in patients with isolated, sporadic ASD (P<5×10^-4). CONCLUSIONS This was the first study that demonstrated variants in FOXL2 and HYDIN associated with sporadic ASD, and supported the use of WES and bioinformatics analysis to identify disease-associated mutations.

NUP58 facilitates metastasis and epithelial-mesenchymal transition of lung adenocarcinoma via the GSK-3ß/Snail signaling pathway.

The NUP58 gene encodes a nucleus-pore protein that is a component of nuclear pore complex (NPC). NPC facilitates the transportation of macromolecules (ions and other substances) into the nuclei of eukaryotic cells. However, there are no relevant reports about the NUP58 gene in human lung cancer. In this study, we demonstrated that NUP58 was highly expressed in the primary and metastatic foci of lung adenocarcinoma, with low expression in adjacent tissues and normal lung tissue. In patients with lung adenocarcinoma, the NUP58 gene was highly expressed in patients with stage IV disease (P < 0.05); NUP58 knockdown using a lentiviral vector-mediated shRNA inhibited metastasis and invasion of lung adenocarcinoma cell lines A549 and H1299 in vivo and in vitro. Furthermore, silencing of NUP58 resulted in altered expression of EMT markers, associated GSK-3ß/Snail pathways, tumor metastasis and invasion factors. In conclusion, these findings demonstrated that NUP58 can promote the metastasis and invasion of lung adenocarcinoma, which can be partially attributed to the GSK-3ß/Snail signaling pathway.