Background Bioinformatics was used to analyze the skin cutaneous melanoma (SKCM) gene expression profile to provide a theoretical basis for further studying the mechanism underlying metastatic SKCM and the clinical prognosis. Methods We downloaded the gene expression profiles of 358 metastatic and 102 primary (nonmetastatic) CM samples from The Cancer Genome Atlas (TCGA) database as a training dataset and the GSE65904 dataset from the National Center for Biotechnology Information database as a validation dataset. Differentially expressed genes (DEGs) were screened using the limma package of R3.4.1, and prognosis-related feature DEGs were screened using Logit regression (LR) and survival analyses. We also used the STRING online database, Cytoscape software, and Database for Annotation, Visualization and Integrated Discovery software for protein–protein interaction network, Gene Ontology, and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses based on the screened DEGs. Results Of the 876 DEGs selected, 11 (ZNF750, NLRP6, TGM3, KRTDAP, CAMSAP3, KRT6C, CALML5, SPRR2E, CD3G, RTP5, and FAM83C) were screened using LR analysis. The survival prognosis of nonmetastatic group was better compared to the metastatic group between the TCGA training and validation datasets. The 11 DEGs were involved in 9 KEGG signaling pathways, and of these 11 DEGs, CALML5 was a feature DEG involved in the melanogenesis pathway, 12 targets of which were collected. Conclusion The feature DEGs screened, such as CALML5, are related to the prognosis of metastatic CM according to LR. Our results provide new ideas for exploring the molecular mechanism underlying CM metastasis and finding new diagnostic prognostic markers.
Background: The current study investigated the application of three-dimensional (3D) printing technology in the treatment of talar avascular necrosis (TAN). Custom-made Vitallium talar prostheses were designed and generated via 3D printing. We hypothesized that these talar prostheses would facilitate more stable positioning, better ergonomically fit the ankle joint surfaces, and promote favorable long-term prognoses.Material and Methods: Computed tomography scans of both ankle joints were acquired from three patients diagnosed with TAN. The talar on the unaffected side was used as the design blueprint. Hence, with the aid of 3D printing technology a customized talar prosthesis made from a novel Vitallium alloy could be manufactured for each individual patient.Results: In all three cases there were no signs of prosthesis loosening or substantial degenerative change in the surrounding area of the joint, but small osteophytes were observed on the tibial side and navicular side. No chronic infection or other prosthesis-related complications were observed in any of the patients. All three were able to walk without pain at the most recent follow-up.Conclusion: With the aid of 3D printing and a novel Vitallium alloy, total talar replacement achieved encouraging results in 3/3 patients. All patients were satisfied with their joint function, and were able to return to their daily activities without limitations. Although more cases and longer-term follow-up periods are required, the success rate reported herein is encouraging.
As a significant chromosomal structural abnormality, chromosomal inversion is closely related to male infertility. For inversion carriers, the interchromosomal effect explains male infertility, but its specific mechanism remains unclear. Additionally, inversion carriers with different chromosomes have different clinical manifestations. Therefore, genetic counseling is difficult in clinical practice. Herein, four male carriers of pericentric inversion in chromosome 6 have been described. Two patients showed asthenospermia, one showed azoospermia, and the wife of the remaining patient had recurrent miscarriages. Through a literature search, the association between the breakpoint of pericentric inversion in chromosome 6 and male fertility problems are also discussed in this study. Overall, important genes related to asthenospermia in chromosome 6p21 were found, which may be related to the clinical phenotype. These results suggest that physicians should focus on the breakpoints of inversion in genetic counseling.
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