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Ocular muscle myasthenia gravis (Ocular Myasthenia Gravis, OMG) has a high incidence and is difficult to diagnose. It is very necessary to find specific diagnostic indicators for OMG. By collecting peripheral blood of OMG, systemic myasthenia gravis and healthy people, extract miRNAs derived from exosomes in the serum and perform high-throughput sequencing, then use bioinformatics analysis methods to screen specifically expressed miRNAs as biomarkers for OMG diagnosis .
Part I: (1) Collect peripheral blood samples from patients with early-onset OMG, early-onset GMG and healthy subjects of age and sex matched who have been diagnosed for the first time and have not undergone any drug treatment. There are 6 cases in each group. Extract the secretion miRNA in serum and conduct high-throughput sequencing. Analyze and compare the differential expression miRNAs between OMG, GMG and healthy control groups by edgeR. The standard of differential expression is set as | logFC |>1, p<0.05. Use miRTarBase, TargetScan, and miRDB to predict target genes for differentially expressed miRNAs. Conduct GO enrichment and KEGG signaling pathway analysis on target genes. The STRING tool is used to construct the target gene protein interaction network (PPI). According to the importance of the target gene calculated by the maximum population concentration ratio (MCC) method, the top ten genes (hub genes) are selected and analyzed.
(2) Randomly collect peripheral blood samples from patients with early-onset OMG, early-onset GMG, and age-matched healthy subjects, with 10 samples in each group. The differentially expressed miRNAs obtained during the sequencing phase were validated using real-time fluorescence quantification (RT-qPCR). Construct a receiver operating characteristic curve (ROC) curve to evaluate the diagnostic efficacy of the identified miRNA.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Ocular myasthenia gravis group | Ocular myasthenia gravis,age between 18-50 years old |
| |
| General myasthenia gravis group | General myasthenia gravis,age between 18-50 years old |
| |
| Healthy control group | people who are healthy without any systemic diseases,18-50 years old |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Body fluid diagnosis | Device | miRNAs derived from exosomes in the serum |
|
| Measure | Description | Time Frame |
|---|---|---|
| A specific miRNA maybe miR-340-5p,miR-106b-5p or miR-27a-3p is a biological marker for diagnosis of OMG | find some specific miRNA to diagnose OMG. | 12,2022 |
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Inclusion Criteria:
Clinical manifestations: fluctuating myasthenia;
Exclusion Criteria:
â‘ Combined with other autoimmune diseases or other inflammatory diseases; â‘¡Patients with tumorous diseases;
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People within age 18-50 years old who is diagnosed with OMG,GMG or healthy people.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| First Affiliated Hospital of Jinan University | Guangzhou | Guangdong | 510632 | China |
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| ID | Term |
|---|---|
| D009157 | Myasthenia Gravis |
| ID | Term |
|---|---|
| D020361 | Paraneoplastic Syndromes, Nervous System |
| D009423 | Nervous System Neoplasms |
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
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| D010257 | Paraneoplastic Syndromes |
| D020274 | Autoimmune Diseases of the Nervous System |
| D009422 | Nervous System Diseases |
| D019636 | Neurodegenerative Diseases |
| D020511 | Neuromuscular Junction Diseases |
| D009468 | Neuromuscular Diseases |
| D001327 | Autoimmune Diseases |
| D007154 | Immune System Diseases |