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Biomarkers for early diagnosis of autism obtained through bioinformatics analysis of human blood sample
Liuyin Jin, Linman Wu, Zhilan Yang, Junyi Xiang, Wenqian Xu, Chang Shu, Gaohua Wang
Journal of Translational Neuroscience. 2021, 6 (4): 7-18.
https://doi.org/10.3868/j.issn.2096-0689.2021.04.002
Objective: autism spectrum disorder (ASD), a serious disorder that begins early in life, continues throughout the lifespan. Children with ASD who are diagnosed early are more responsive to therapeutic interventions and have less social and language impairment than children diagnosed later; however, current diagnostic measures are mostly applied to children older than one year and lack the appropriate biological markers for early diagnosis of ASD. Using bioinformatic analysis, this study explores the molecular information mechanism of ASD. Method: in this study, we used dataset GSE6575 from Gene Expression Omnibus (GEO) to analyze the mRNA expression profile of ASD, including 35 ASD samples and 12 normal control samples looking for different genes and we did enrichment analysis of those genes. We then used the STRING database to construct a protein–protein interaction (PPI) network of differential genes. Finally, Cytoscape plug-in cytoHubba was used to search for hub genes. The diagnostic value of the hub genes was verified by subject operating characteristic curves. Result: we looked for 50 different genes and did an enrichment analysis of those genes. The results of the enrichment analysis showed that these differential genes were mainly concentrated in the response to viruses, the immune regulation of inflammation and energy metabolism. Using Cytoscape plug-in cytoHubba, we found ten different genes. We drew ROC curves for all ten genes among which two genes, interleukin 2 receptor subunit beta (IL2Rβ) and perforin 1 (PRF1), had good sensitivity and specificity for the early diagnosis of autism. The areas under the ROC curves were 0.855, 0.830 for IL2Rβ, PRF1. Conclusion: data analysis using the GEO database can provide new insights into the etiology of ASD as well as some possible biomarkers and therapeutic targets for early diagnosis and treatment of ASD.
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Clinical features of 5 cases of allergic granulomatous vasculitis
Zhenlin Liu, Na Chen, Jing Xiao, Lei Li, Xueqing Li, Yi Bao
Journal of Translational Neuroscience. 2021, 6 (4): 19-24.
https://doi.org/10.3868/j.issn.2096-0689.2021.04.003
Objective: allergic granulomatous vasculitis is relatively rare in clinic. We aimed to analyze the clinical characteristics of allergic granulomatous vasculitis. Methods: collecting allergic granulomatous vasculitis patients in Taihe Hospital from January 2017 to June 2020, sorting out their general information, system involvement and clinical examination results, and analyzing their clinical characteristics. Results: a total of 5 patients diagnosed with allergic granulomatous vasculitis were collected, all with multiple organ involvement, including the skin, respiratory system, circulatory system, digestive system, urinary system, and nervous system. Respiratory system involvement was mainly due to decreased lung function; 60% manifested as obstructive ventilatory dysfunction. Lung biopsy showed a large amount of eosinophil infiltration in the interstitium of the alveolar septum, and eosinophil and fibrin-like exudation in the alveolar cavity. The circulatory system was mainly affected by myocardial damage, and patient two (P2) had pericardial effusion. 60% of nervous system involvement was central nervous system involvement, and 40% was peripheral nerve involvement. Skin system involvement accounted for 60%. Urinary system involvement was mainly manifested as hematuria and proteinuria. Digestive system involvement was mainly manifested as gastritis, gastric ulcer and other diseases. Conclusion: allergic granulomatous vasculitis is clinically rare. The clinical manifestations are atypical and often involve damage to multiple systems. Clinicians need to fully understand the characteristics of the disease and make comprehensive judgments based on the onset process and examination results to avoid misdiagnosis.
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Aphasia hemiplegia with abdominal pain in a female patient caused by Staphylococcus lugdunensis infection: a case report
Jingwen Cui, Hanyu Dou, Jun Chen, Shangbin Xiong, Jun Xuan, Yi Bao
Journal of Translational Neuroscience. 2021, 6 (4): 29-34.
https://doi.org/10.3868/j.issn.2096-0689.2021.04.005
Objective: to describe the clinical features of a case of infective endocarditis caused by Staphylococcus lugdunensis, followed by cerebral embolism, spleen embolism and tendon rupture. Methods: the clinical data of a 22-year-old female patient with aphasia hemiplegia and abdominal pain were collected. Relevant examinations such as routine blood test, myocardial enzyme spectrum, electrocardiogram (ECG), cardiac color Doppler ultrasound, brain magnetic resonance, abdominal computed tomography (CT) and blood culture were completed, and anti infection treatment was carried out according to the drug sensitivity test. Results: brain magnetic resonance imaging (MRI) showed cerebral infarction in the left basal ganglia, cardiac color Doppler ultrasound showed mitral valve vegetation and abscess formation, and abdominal CT showed splenic infarction. After anti infection treatment, the patient’s condition gradually improved, but the patient had sudden arrhythmia in the recovery period. Color Doppler ultrasound showed rupture of the mitral tendinous cord and valve prolapse. The condition was improved after surgical treatment. Conclusion: the first manifestation of Staphylococcus lugdunensis infection is cerebral infarction, which is relatively rare in the clinic setting. The main manifestation of this case is aphasia hemiplegia with abdominal pain. Blood culture and identification show Staphylococcus lugdunensis, which is rare in adolescent patients. The infection has a rapid onset, rapid progress and causes serious valve damage. Timely strain identification and drug sensitivity test are conducive to accurate diagnosis and treatment. Valve surgery is often necessary.
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