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ore protective gear less frequently, and a large proportion of orthopedic surgeons were not monitored by the national radiation dosimetry system. As the number of radiation procedures performed by the orthopedic surgeons increases, more intensive approaches are needed to reduce radiation exposure, especially for spine and trauma surgeons.[This corrects the article DOI 10.1186/s12991-020-00292-5.].Familial hypercholesterolemia (FH) is a common genetic disease with an incidence of about 1 in 200-500 individuals. Genetic mutations markedly elevate low-density lipoprotein cholesterol and atherosclerotic cardiovascular disease (ASCVD) in FH patients. With advances in clinical diagnosis and genetic testing, more genetic mutations have been detected, including those in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), and so on. Globally, most FH patients remain undiagnosed, untreated, or inappropriately treated. Recently, there was a Global Call to Action by the Global Familial Hypercholesterolemia Community to reduce the health burden of FH. Asia, despite being the most populous continent with half of the global population, has low FH detection rates compared to Western countries. ART558 purchase Therefore, we aimed to review the current status of FH genetic diagnosis in Asia to understand the gaps in FH diagnosis and management in this region.Keratoconus (KC) is a complex ocular disease that is affected by both genetic and non-genetic triggers. A recent genome-wide association study (GWAS) identified a genome-wide significant locus for KC in the region of PNPLA2 (rs61876744), as well as a suggestive signal in the MAML2 (rs10831500) locus. In order to validate their findings, here we performed a replication study of the Han Chinese population, with 120 sporadic KC cases and 206 gender and age matched control subjects, utilizing the TaqMan SNP genotyping assays. SNP rs10831500, as well as two proxy SNPs for rs61876744, named rs7942159 and rs28633403, were subjected to genotyping. However, we did not find a significant difference (P > 0.05) in all the three genotyped SNPs between KC cases and the controls. A further meta-analysis on four previous cohorts of white patients and this Han Chinese cohort showed a significant genetic heterogeneity within the replicated loci. Thus, the current study suggests that SNP rs61876744 (or its proxy SNPs) and rs10831500 might not be associated with KC susceptibility in this Han Chinese cohort, and a large-scale association analysis focusing on the loci is therefore warranted in further investigations.Systemic sclerosis-associated with pulmonary arterial hypertension (SSc-PAH) is still a major cause of SSc related deaths. Early diagnosis and prompt treatment are crucial to reduce the mortality of patients with SSc-PAH. To screen the candidate biomarkers and potential therapeutic targets for SSc-PAH, we analyzed the data set (GSE33463 and GSE19617) for confirming key genes in peripheral blood mononuclear cells from SSc-PAH patients. A total of 105 SSc patients from gene expression omnibus (GEO) were included as discovery cohort (n = 69) and duplication cohort (n = 36) for screening hub genes by weighted gene co-expression network analysis (WGCNA). Furthermore, an independent validation cohort (n = 40), including healthy controls, SSc and SSc-PAH patients, was used for further validation by quantitative real-time polymerase chain reaction. The results showed that four key genes, including IFIT2, IFIT3, RSAD2, and PARP14, may serve as potential biomarkers in SSc-PAH. Also, they could be independent risk factors for SSc-PAH. In conclusion, the four key genes can be expected to become the potential therapeutic targets and early biomarkers for accurate therapy and diagnosis of SSc-PAH in the future, which also provides promising insights into the pathogenesis of SSc-PAH at the molecular level.Cichlids constitute a diverse monophyletic group that have developed adaptive strategies to thrive in diverse environments. Andinoacara represents an example of diversification on the South American Andean uplift, providing a key model for understanding the evolution of biogeographic patterns. In this study, we analyzed the species Andinoacara latifrons using two mitochondrial markers (COI, cytb) and one nuclear marker (RAG1) in a populational level. Sequences were obtained through tissue collection and from the GenBank database. Populational analysis showed significant structuration among populations, also corroborated with population pairwise F st results. Fu’s Fs and Tajima’s D results showed populations that seems to be under populational expansion. We identified 22 haplotypes using cytb. The population associations in the Cauca haplotype are related to the Momposina depression and the mixture of the Cauca-Magdalena river basins in the lower Cauca-Magdalena region. We constructed a new phylogenetic tree, which grouped mainly two A. latifrons lineages (1) an upper Magdalena and Catatumbo clade and (2) an upper Cauca and upper Magdalena clade. Thus, A. latifrons represents a diverse entity that contributes to our understanding of the evolutionary history of northern South America. Our findings provide insight into devising public policies in determining refuges for the preservation of biodiversity in the lower Cauca and Magdalena regions in Colombia.

Alternative splicing (AS) is a molecular event that drives protein diversity through the generation of multiple mRNA isoforms. Growing evidence demonstrates that dysregulation of AS is associated with tumorigenesis. However, an integrated analysis in identifying the AS biomarkers attributed to esophageal carcinoma (ESCA) is largely unexplored.

AS percent-splice-in (PSI) data were obtained from the TCGA SpliceSeq database. Univariate and multivariate Cox regression analysis was successively performed to identify the overall survival (OS)-associated AS events, followed by the construction of AS predictor through different splicing patterns. Then, a nomogram that combines the final AS predictor and clinicopathological characteristics was established. Finally, a splicing regulatory network was created according to the correlation between the AS events and the splicing factors (SF).

We identified a total of 2389 AS events with the potential to be used as prognostic markers that are associated with the OS of ESCA patients.