Predicting the risk of primary Sjögren's syndrome with key N7-methylguanosine-related genes: A novel XGBoost model.

Objectives: N7-methylguanosine (m7G) plays a crucial role in mRNA metabolism and other biological processes. However, its regulators' function in Primary Sjögren's Syndrome (PSS) remains enigmatic. Methods: We screened five key m7G-related genes across multiple datasets, leveraging statistical and machine learning computations. Based on these genes, we developed a prediction model employing the extreme gradient boosting decision tree (XGBoost) method to assess PSS risk. Immune infiltration in PSS samples was analyzed using the ssGSEA method, revealing the immune landscape of PSS patients. Results: The XGBoost model exhibited high accuracy, AUC, sensitivity, and specificity in both training, test sets and extra-test set. The decision curve confirmed its clinical utility. Our findings suggest that m7G methylation might contribute to PSS pathogenesis through immune modulation. Conclusions: m7G regulators play an important role in the development of PSS. Our study of m7G-realted genes may inform future immunotherapy strategies for PSS.

Mapping and functional characterization of structural variation in 1060 pig genomes.

BACKGROUND: Structural variations (SVs) have significant impacts on complex phenotypes by rearranging large amounts of DNA sequence. RESULTS: We present a comprehensive SV catalog based on the whole-genome sequence of 1060 pigs (Sus scrofa) representing 101 breeds, covering 9.6% of the pig genome. This catalog includes 42,487 deletions, 37,913 mobile element insertions, 3308 duplications, 1664 inversions, and 45,184 break ends. Estimates of breed ancestry and hybridization using genotyped SVs align well with those from single nucleotide polymorphisms. Geographically stratified deletions are observed, along with known duplications of the KIT gene, responsible for white coat color in European pigs. Additionally, we identify a recent SINE element insertion in MYO5A transcripts of European pigs, potentially influencing alternative splicing patterns and coat color alterations. Furthermore, a Yorkshire-specific copy number gain within ABCG2 is found, impacting chromatin interactions and gene expression across multiple tissues over a stretch of genomic region of ~200 kb. Preliminary investigations into SV's impact on gene expression and traits using the Pig Genotype-Tissue Expression (PigGTEx) data reveal SV associations with regulatory variants and gene-trait pairs. For instance, a 51-bp deletion is linked to the lead eQTL of the lipid metabolism regulating gene FADS3, whose expression in embryo may affect loin muscle area, as revealed by our transcriptome-wide association studies. CONCLUSIONS: This SV catalog serves as a valuable resource for studying diversity, evolutionary history, and functional shaping of the pig genome by processes like domestication, trait-based breeding, and adaptive evolution.

Roles of the Mdm10, Tom7, Mdm12, and Mmm1 proteins in the assembly of mitochondrial outer membrane proteins in Neurospora crassa.

The Mdm10, Mdm12, and Mmm1 proteins have been implicated in several mitochondrial functions including mitochondrial distribution and morphology, assembly of beta-barrel proteins such as Tom40 and porin, association of mitochondria and endoplasmic reticulum, and maintaining lipid composition of mitochondrial membranes. Here we show that loss of any of these three proteins in Neurospora crassa results in the formation of large mitochondrial tubules and reduces the assembly of porin and Tom40 into the outer membrane. We have also investigated the relationship of Mdm10 and Tom7 in the biogenesis of beta-barrel proteins. Previous work showed that mitochondria lacking Tom7 assemble Tom40 more efficiently, and porin less efficiently, than wild-type mitochondria. Analysis of mdm10 and tom7 single and double mutants, has demonstrated that the effects of the two mutations are additive. Loss of Tom7 partially compensates for the decrease in Tom40 assembly resulting from loss of Mdm10, whereas porin assembly is more severely reduced in the double mutant than in either single mutant. The additive effects observed in the double mutant suggest that different steps in beta-barrel assembly are affected in the individual mutants. Many aspects of Tom7 and Mdm10 function in N. crassa are different from those of their homologues in Saccharomyces cerevisiae.

Epidemiology of pediatric burns requiring hospitalization in China: a literature review of retrospective studies.

OBJECTIVE: This review was an effort to systematically examine the nationwide data available on pediatric burns requiring hospitalization to reveal burn epidemiology and guide future education and prevention. METHODS: The China Biomedical Disk Database, Chongqing VIP Database, and China Journal Full-Text Database were searched for articles reporting data on children and their burns from January 2000 through December 2005. Studies were included that systematically investigated the epidemiology of pediatric burns requiring hospitalization in China. Twenty-eight articles met the inclusion criteria, all of which were retrospective analyses. For each study included, 2 investigators independently abstracted the data related to the population description by using a standard form and included the percentage of patients with burn injury who were <15 years old; gender and distribution of age; type of residential area; place of injury; distribution of months and time; reasons for burn; anatomical sites of burn; severity of burn; and mortality and cause of death. These data were extracted, and a retrospective statistical description was performed with SPSS11.0 (SPSS Inc, Chicago, IL). RESULTS: Of the pediatric patients studied, the proportion of children with burn injury ranged from 22.50% to 54.66%, and the male/female ratio ranged from 1.25:1 to 4.42:1. The ratio of children aged 3 years was 0.19:1 to 4.18:1. The rural/urban ratio was 1.60:1 to 12.94:1. The ratio of those who were burned indoors versus outdoors was 1.62 to 17.00, and there were no effective hints on the distribution of seasons and anatomical sites of burn that could be found. The peak hours of pediatric burn were between 17:00 and 20:00. Most articles reported the sequence of reasons as hot liquid > flame > electricity > chemical, and scalding was, by far, the most predominant reason for burn. The majority of the studies reported the highest proportion involved in moderate burn, and the lowest proportion was for critical burn. The mortality rate ranged from 0.49% to 9.08%, and infection, shock, and multiple organ dysfunction syndrome were the most common causes of death. CONCLUSIONS: Considering the national proportion of children, a high proportion of hospitalized patients with burn injury were children; those who were male, aged