Machine learning and bioinformatics framework integration reveal potential characteristic genes related to immune cell infiltration in preeclampsia

Introduction: Preeclampsia is a disease that affects both the mother and child, with serious consequences. Screening the characteristic genes of preeclampsia and studying the placental immune microenvironment are expected to explore specific methods for the treatment of preeclampsia and gain an in-depth understanding of the pathological mechanism of preeclampsia.Methods: We screened for differential genes in preeclampsia by using limma package. Gene Ontology, Kyoto Encyclopedia of Genes and Genomes, disease ontology enrichment, and gene set enrichment analyses were performed. Analysis and identification of preeclampsia biomarkers were performed by using the least absolute shrinkage and selection operator regression model, support vector machine recursive feature elimination, and random forest algorithm. The CIBERSORT algorithm was used to analyze immune cell infiltration. The characteristic genes were verified by RT-qPCR.Results: We identified 73 differential genes, which mainly involved in reproductive structure and system development, hormone transport, etc. KEGG analysis revealed emphasis on cytokine–cytokine receptor interactions and interleukin-17 signaling pathways. Differentially expressed genes were dominantly concentrated in endocrine system diseases and reproductive system diseases. Our findings suggest that LEP, SASH1, RAB6C, and FLT1 can be used as placental markers for preeclampsia and they are associated with various immune cells.Conclusion: The differentially expressed genes in preeclampsia are related to inflammatory response and other pathways. Characteristic genes, LEP, SASH1, RAB6C, and FLT1 can be used as diagnostic and therapeutic targets for preeclampsia, and they are associated with immune cell infiltration. Our findings contribute to the pathophysiological mechanism exploration of preeclampsia. In the future, the sample size needs to be expanded for data analysis and validation, and the immune cells need to be further validated

Assessment of Cortical Dysfunction in Patients with Intermittent Exotropia: An fMRI Study

<div><p>Neural imaging studies have found the connection between strabismus and brain cortex. However, the pathological mechanisms of intermittent exotropia are still not fully understood. In the present study, changes of binocular fusion related cortices in intermittent exotropia were investigated with blood oxygen level dependent functional magnetic resonance imaging. Activated cortices induced by fusion stimulus were found to be distributed in several regions such as bilateral middle occipital gyrus, bilateral middle temporal gyrus, left superior parietal lobule and so on. Compared with normal subjects, the increased activation intensity was observed in bilateral superior parietal lobule and inferior parietal lobule in subjects with intermittent exotropia. These findings indicate that binocular fusion involves a complicated brain network including several regions. And cortical activities of bilateral superior parietal lobule and inferior parietal lobule compensate for the binocular fusion dysfunction in intermittent exotropia.</p></div

Brain activitation in normal subjects with the binocular fusion stimulus.

<p>Brain activitation in normal subjects with the binocular fusion stimulus.</p

The schematic diagram reflecting the possible pathways of binocular fusion.

<p>The schematic diagram reflecting the possible pathways of binocular fusion.</p

Brain images of increased activation in intermittent exotropia subjects compared with controls.

<p>(A) Glass brain shows activated areas. (B) Activation areas are showed in sagittal, coronal and horizon planes. The red and green arrows point to the superior parietal lobule and inferior parietal lobule, respectively.</p

Increased brain activitation in intermittent exotropia subjects compared with controls under the condition of binocular fusion stimulus.

<p>Increased brain activitation in intermittent exotropia subjects compared with controls under the condition of binocular fusion stimulus.</p

Brain activities images of normal subjects with the binocular fusion stimulus.

<p>(A) Glass brain shows activated areas. (B) Activation areas are showed in sagittal, coronal and horizon planes. The yellow, pink, blue, red, green and white arrows point to the posterior cingulated gyrus, precuneus, postcentral gyrus, superior frontal gyrus, middle temporal gyrus and middle occipital gyrus, respectively.</p

Brain activitation in intermittent exotropia subjects with the binocular fusion stimulus.

<p>Brain activitation in intermittent exotropia subjects with the binocular fusion stimulus.</p

Brain activities images of intermittent exotropia subjects with the binocular fusion stimulus.

<p>(A) Glass brain shows activated areas. (B) Activation areas are showed in sagittal, coronal and horizon planes. The red and green arrows point to the middle occipital gyrus and fusiform gyrus, respectively.</p