TUBB, a robust biomarker with satisfying abilities in diagnosis, prognosis, and immune regulation via a comprehensive pan-cancer analysis.

Purpose: TUBB can encode a beta-tubulin protein. At present, the role of TUBB has not been ascertained in cancers. Hence, the importance of further systematic pan-cancer analyses is stressed to explore its value in the diagnosis, prognosis, and immune function of cancers. Methods: By collecting and handling integrative data from the TCGA, Firehose, UCSC Xena, cBioPortal, GEO, CPTAC, TIMER2.0, TISCH, CellMiner, GDSC, and CTRP databases, we explored the potential diagnostic and prognostic roles of TUBB in pan-cancers from multiple angles. Moreover, the GSEA analysis was conducted to excavate the biological functions of TUBB in pan-cancers. In addition, survival profiles were described, and the differential expressions of TUBB in different molecular subtypes were discussed. Also, we utilized the cMAP function to search drugs or micro-molecules that have an impact on TUBB expressions. Results: Based on the TCGA data, we found that TUBB was differentially expressed in a variety of tumors and showed an early-diagnostic value. Mutations, somatic copy number alterations, and DNA methylation would lead to its abnormal expression. TUBB expressions had relations with many clinical features. What's more, TUBB expressions were validated to be related to many metabolism-related, metastasis-related, and immune-related pathways. High TUBB expressions were proved to have a great impact on the prognosis of various types of cancers and would affect the sensitivity of some drugs. We also demonstrated that the expression of TUBB was significantly correlated to immunoregulator molecules and biomarkers of lymphocyte subpopulation infiltration. Conclusion: TUBB and its regulatory genes were systemically analyzed in this study, showing that TUBB had satisfying performances in disease diagnosing and prognosis predicting of multiple cancers. It could remodel the tumor microenvironment and play an integral role in guiding cancer therapies and forecasting responses to chemotherapy.

The Systemic Immune-Inflammation Index (SII) and coronary artery lesions in Kawasaki disease.

Coronary artery lesions (CALs) are the most common complications of Kawasaki disease (KD) and play a crucial role in determining the prognosis of the disease. Consequently, the early identification of children with KD who are at risk of developing coronary artery damage is vitally important. We sought to investigate the relationship between the Systemic Immune-Inflammation Index (SII) and CALs in patients with KD and to assess its predictive value. We carried out a retrospective review and analysis of medical records for KD patients treated at the First Affiliated Hospital of Anhui Medical University between January 2017 and January 2023. We utilized single-variable tests, binary logistic regression analysis, ROC curve analysis, restricted cubic spline tests, and curve fitting to evaluate the association between SII and CALs. In our study, 364 patients were included, with 63 (17.3%) presenting with CALs at the time of admission. The binary logistic regression analysis indicated that SII was a significant risk factor for CALs at admission, evident in both unadjusted and models adjusted for confounders. The ROC curve analysis revealed an AUC (Area Under the Curve) value of 0.789 (95%CI 0.723-0.855, P < 0.001) for SII's predictive ability regarding CALs at admission. A consistent positive linear relationship between SII and the risk of CALs at admission was observed in both the raw and adjusted models. Our research findings suggest that SII serves as a risk factor for CALs and can be used as an auxiliary laboratory biomarker for predicting CALs.

A Novel ANK1 Mutation in a Neonatal Hereditary Spherocytosis Case: Diagnostic Challenges and Familial Genetic Analysis.

Hereditary spherocytosis (HS) is a congenital disease in which erythrocyte membranes are abnormal, with ANK1 defects as the main cause. The diagnosis of neonatal HS is difficult due to poor phenotypic specificity. Therefore, a detailed inquiry into family history may be helpful for diagnosis. Here, we describe a familial case of HS caused by a novel mutation in ANK1. The proband is a premature infant of Chinese Han ethnicity characterized by progressive aggravation of anemia and jaundice. The disease was caused by a frameshift mutation (c.3392delT/p.Leu1131Argfs*15) of ANK1 that was identified by genetic testing. In vitro functional experiments showed that this variant may seriously affect the protein expression and further expanded the mutation spectrum of ANK1-HS. In this case, we emphasize the diagnostic value of early-intervention genetic testing for neonatal hemolytic anemia with a family history.