MicroARN: la biología molecular como herramienta de predicción en preeclampsia

Preeclampsia is a disease with a significant incidence worldwide that is directly associated with 15% of maternal deaths. This is usually characterized by the presence of hypertension and proteinuria, which manifests itself from the middle of pregnancy. MicroRNAs are single-stranded RNA molecules that act primarily by degrading transcribed messenger RNA or inhibiting microRNA translation. Placental microRNAs play a role in the growth and function of the placenta, their potential use as diagnostic biomarkers is considered feasible due to the ability to enter the maternal circulation and be detectable in maternal plasma.     

下一代诊断病理学

随着人类基因组测序、生物大数据信息分析、分子病理检测和人工智能辅助病理诊断等技术进步及其应用, 临床医学发展迈向精准诊疗时代。这一时代背景下, 传统诊断病理学迎来前所未有的历史机遇, 正在向"下一代诊断病理学(next-generation diagnostic pathology)"迈进。下一代诊断病理学以病理形态和临床信息为诊断基础, 以分子检测与生物信息分析、智慧制样与流程质控、智能诊断与远程会诊、病灶活体可视化与"无创"病理诊断等创新前沿交叉技术为主要特征, 以多组学和跨尺度整合诊断为病理报告内容, 实现对疾病的"最后诊断", 并预测疾病演进和结局、建议治疗方案和评估治疗反应, 形成新的疾病诊断"金标准"。未来, 需要激发病理学科创新活力, 加快下一代诊断病理学成熟和应用, 重塑病理学科理论和技术体系, 发挥诊断病理学在疾病"防、诊、治、养"等过程中的重要作用, 促进临床医学进一步发展, 服务健康中国战略。     

In silico screening and analysis of single-nucleotide polymorphic variants of the ABCC2 gene affecting Dubin–Johnson syndrome

Background and Study AimsDubin–Johnson syndrome (DJS) is a benevolent genetic disorder of the liver with autosomal inheritance. It is a rare disorder characterized by an increase in conjugated bilirubin and anomaly in coproporphyrin clearance. DJS is caused by deleterious mutations in the ABCC2 gene. A polymorphism in the ABCC2 gene causes malfunctions in its ability to regulate the efflux of different organic anions, such as bilirubin, from hepatocytes to the canaliculi. Multidrug resistance protein 2 (MRP2) encoded by the ABCC2 gene is one of the main regulators of the export of bilirubin to respective sites. ABCC2 gene mutations have widely drawn attention in the pathology of DJS in various populations.Patients and MethodsThe ABCC2 gene was subjected to the National Center for Biotechnology Information (NCBI) database in 2020, and non-synonymous single-nucleotide polymorphisms (nsSNPs) and variants in untranslated regions were studied using different computational servers. SIFT, Protein variation effect analyzer, and PolyPhen-2 were used to retrieve the damaging Single-nucleotide polymorphisms (SNPs); PhD-SNP, SNPs&GO, and Protein Analysis Through Evolutionary Relationships were used to predict the association of nsSNPs with DJS; Mutation3D illustrated the location of variants in the protein; SNAP2, MutPred2, ELASPIC, and HOPE were used to predict the structural and functional effects of these mutations on MRP2; and I-mutant 3.0 and MuPro were used to determine the effects of polymorphism on the function of MRP2.ResultsIn this study, 18,947 SNPs were screened from the NCBI database, followed by a series of refinement of variants using online available servers. We concluded that 41 ABCC2 gene variants are vital etiological candidates for DJS in humans. These 41 variants had highly damaging effects on the MRP2 protein, which may lead to deficient transportation capacity, thereby affecting the efflux of bilirubin across the canalicular membrane.ConclusionIn silico tools are an alternative approach for predicting the target SNPs. Hence, previously unreported variants can be considered strong etiological candidates for diseases related to MRP2.     

Bioinformatics Analysis of Key Genes and Pathways for Medulloblastoma as a Therapeutic Target

Introduction: One of the major challenges in cancer treatment is the lack of specific and accurate treatment incancer. Data analysis can help to understand the underlying molecular mechanism that leads to better treatment.Increasing availability and reliability of DNA microarray data leads to increase the use of these data in a variety ofcancers. This study aimed at applying and evaluating microarray data analyzing, identification of important pathwaysand gene network for medulloblastoma patients to improve treatment approaches especially target therapy. Methods:In the current study, Microarray gene expression data (GSE50161) were extracted from Geo datasets and then analyzedby the affylmGUI package to predict and investigate upregulated and downregulated genes in medulloblastoma. Then,the important pathways were determined by using software and gene enrichment analyses. Pathways visualizationand network analyses were performed by Cytoscape. Results: A total number of 249 differentially expressed genes(DEGs) were identified in medulloblastoma compared to normal samples. Cell cycle, p53, and FoxO signaling pathwayswere indicated in medulloblastoma, and CDK1, CCNB1, CDK2, and WEE1 were identified as some of the importantgenes in the medulloblastoma. Conclusion: Identification of critical and specific pathway in any disease, in our casemedulloblastoma, can lead us to better clinical management and accurate treatment and target therapy.     

A Simple Computational Theory of General Collective Intelligence

Researchers have recently demonstrated that group performance across tasks tends to be correlated, motivating the use of a single metric for the general collective intelligence of groups akin to general intelligence metrics for individuals. High general collective intelligence is achieved when a group performs well across a wide variety of tasks. A number of factors have been shown to be predictive of general collective intelligence, but there is sparse formal theory explaining the presence of correlations across tasks, betraying a fundamental gap in our understanding of what general collective intelligence is measuring. Here, we formally argue that general collective intelligence arises from groups achieving commitment to group goals, accurate shared beliefs, and coordinated actions. We then argue for the existence of generic mechanisms that help groups achieve these cognitive alignment conditions. The presence or absence of such mechanisms can potentially explain observed correlations in group performance across tasks. Under our view, general collective intelligence can be conceived as measuring group performance on classes of tasks that have particular combinations of cognitive alignment requirements.     

High-performance multiplex drug-gated CAR circuits

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