Medicine
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Clear-cell renal cell carcinoma (ccRCC) is the most common subtype of renal cell carcinoma (RCC), which exhibits great variability in the prognosis of patients. Endoplasmic reticulum stress (ERS) is a persistent state triggered by disruption of endoplasmic reticulum (ER) homeostasis, which has been shown to control multiple pro-tumor-associated pathways in malignant cells while dynamically reprogramming immune cell function. This study aimed to identify ERS-related genetic risk signatures (ERSGRS) to ameliorate survival prediction in ccRCC patients. ⋯ Meanwhile, the tumor microenvironment (TME) of the high-risk group demonstrated an immunosuppressive phenotype, with more infiltration of regulatory T cells (Tregs) and macrophages. The TME in the low-risk group had a stronger potential for anti-tumor immunity. Overall, the ERSGRS could be a valuable predictive tool for ccRCC prognosis.
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Dyschromatosis universalis hereditaria (DUH) is an uncommon form of pigmented genodermatosis that is typically inherited autosomally and dominantly. In the previous study, the pathogenic genes of DUH have been identified in ATP-binding cassette subfamily B, member 6 and SASH1. However, the mutational screening of the causative gene remains incomplete and still lacks sufficient proof in the etiology. ⋯ Our study broadens the spectrum of DUH mutations and provides more genetic characteristics of DUH in understanding its etiology. Furthermore, we demonstrated the diagnostic accuracy of whole-exome sequencing for inherited skin diseases and provided new information for etiological study.
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Breast cancer (BRCA) is a highly heterogeneous malignancy with an urgent need to build a proper model to predict its prognosis. Cuproptosis is a recently discovered form of cell death, mediated by protein fatty acylation and tightly associated with mitochondrial metabolism. The role of cuproptosis-related genes (CRGs) in BRCA remains to be explored. ⋯ The results indicated significant differences between the 2 groups immune-related biological pathways and the variable immune status. It also suggests the differential sensitivity to chemotherapy between the 2 groups. The CRGs model showed the promise to predict the prognosis of BRCA patients and shed light on their treatment.
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Necrotizing fasciitis is rapidly progressive infection with high mortality rate. This study aimed to summarize the clinical and pathological presentation of this case. ⋯ Successful treatment of necrotizing fasciitis can be achieved through an initial diagnosis, adequate debridement, empirical broad-spectrum antibiotic coverage, and multidisciplinary treatment.
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Cholangiocarcinoma (CCA) is a common and lethal malignant tumor originating from bile duct epithelial cells. Various tumor biomarkers have been used for its clinical screening, such as carbohydrate antigen 19-9 and carcinoembryonic antigen. This study aimed to demonstrate the value of associated genes-CMT1A duplicated region transcript 15 (CDRT15) for prognosis of CCA by integrated bioinformatics analysis. ⋯ CDRT15 is more highly expressed in CCA, thus we identified that CDRT15 could be an efficient biomarker for patients. CDRT15 expression was negatively correlated with prognosis of CCA. CDRT15 may be involved in the immune infiltration process of CCA.