Integrated bioinformatics analysis for exploring potential biomarkers related to Parkinson's disease progression.

BACKGROUND: Parkinson's disease (PD) is a progressive neurodegenerative disease with increasing prevalence. Effective diagnostic markers and therapeutic methods are still lacking. Exploring key molecular markers and mechanisms for PD can help with early diagnosis and treatment improvement. METHODS: Three datasets GSE174052, GSE77668, and GSE168496 were obtained from the GEO database to search differentially expressed circRNA (DECs), miRNAs (DEMis), and mRNAs (DEMs). GO and KEGG enrichment analyses, and protein-protein interaction (PPI) network construction were implemented to explore possible actions of DEMs. Hub genes were selected to establish circRNA-related competing endogenous RNA (ceRNA) networks. RESULTS: There were 1005 downregulated DECs, 21 upregulated and 21 downregulated DEMis, and 266 upregulated and 234 downregulated DEMs identified. The DEMs were significantly enriched in various PD-associated functions and pathways such as extracellular matrix organization, dopamine synthesis, PI3K-Akt, and calcium signaling pathways. Twenty-one hub genes were screened out, and a PD-related ceRNA regulatory network was constructed containing 31 circRNAs, one miRNA (miR-371a-3p), and one hub gene (KCNJ6). CONCLUSION: We identified PD-related molecular markers and ceRNA regulatory networks, providing new directions for PD diagnosis and treatment.

Bioinformatics Analysis and Experimental Validation for Exploring Key Molecular Markers for Glioblastoma.

Glioblastoma (GBM) is the most common primary intracranial malignancy with a very low survival rate. Exploring key molecular markers for GBM can help with early diagnosis, prognostic prediction, and recurrence monitoring. This study aims to explore novel biomarkers for GBM via bioinformatics analysis and experimental verification. Dataset GSE103229 was obtained from the GEO database to search differentially expressed lncRNA (DELs), mRNAs (DEMs), and miRNAs (DEMis). Hub genes were selected to establish competing endogenous RNA (ceRNA) networks. The GEPIA database was employed for the survival analysis and expression detection of hub genes. Hub gene expression in GBM tissue samples and cell lines was validated using RT-qPCR. Western blotting was employed for protein expression evaluation. SYT1 overexpression vector was transfected in GBM cells. CCK-8 assay and flow cytometry were performed to detect the malignant phenotypes of GBM cells. There were 901 upregulated and 1086 downregulated DEMs identified, which were prominently enriched in various malignancy-related functions and pathways. Twenty-two hub genes were selected from PPI networks. Survival analysis and experimental validation revealed that four hub genes were tightly associated with GBM prognosis and progression, including SYT1, GRIN2A, KCNA1, and SYNPR. The four genes were significantly downregulated in GBM tissues and cell lines. Overexpressing SYT1 alleviated the proliferation and promoted the apoptosis of GBM cells in vitro. We identify four genes that may be potential molecular markers of GBM, which may provide new ideas for improving early diagnosis and prediction of the disease.

Miliary brain metastases from lung adenocarcinoma as non-enhancing lesions on MRI: a case report and literature review.

Miliary dissemination is common in tuberculosis, but is an extremely rare form of brain metastasis. It is mainly found in patients with primary lung cancer (small cell and adenocarcinoma). Here, we presented a case of miliary metastases of lung adenocarcinoma to the brain without lesion enhancement on MRI after administration of contrast. A 38-year-old Chinese male was diagnosed with lung adenocarcinoma and received chemotherapy monthly for 6 months. At one month after completion of chemotherapy, the patient presented with headache, dizziness, and vomiting. Brain MRI revealed numerous, disseminated, tiny, rounded cystic high-signal intensity lesions on T2-weighted images, and low-signal intensity lesions on T1-weighted images, with no enhancement. In addition, a high signal on T2-weighted images and uneven enhancement with contrast in the hypophysis were noted. A right frontal lobe biopsy revealed miliary metastases originating from primary lung adenocarcinoma, which was consistent with the pathological finding of a bronchial biopsy. However, the patient and his family requested supportive treatments only, and he died 3 months after the diagnosis. In summary, this case indicates that when imaging findings are not consistent with the most likely cause of miliary brain metastasis, a biopsy is necessary to make a definitive diagnosis.

Germinomas of the basal ganglia and thalamus: Four case reports.

BACKGROUND: The early diagnosis of basal ganglia and thalamus germinomas is often difficult due to the absence of elevated tumor markers, and atypical clinical symptoms and neuroimaging features. CASE SUMMARY: Four male children aged 8 to 15 years were diagnosed with germinomas in the basal ganglia and thalamus by stereotactic biopsy from 2017 to 2019. All patients developed hemiplegia except patient 4 who also had cognitive decline, speech disturbance, nocturnal enuresis, polydipsia, polyuria, precocious puberty and abnormalities of thermoregulation. All four cases were alpha-fetoprotein and beta-human chorionic gonadotrophin (ß-HCG) negative except patient 3 who had slightly elevated ß-HCG in cerebrospinal fluid (CSF). No malignant cells were detected in the patients' CSF. Brain magnetic resonance imaging findings were diverse in these patients with the exception of the unique and common characteristics of ipsilateral hemisphere atrophy, especially in the cerebral peduncle. All patients were diagnosed with germinomas of the basal ganglia and thalamus by stereotactic brain biopsy. CONCLUSION: Stereotactic brain biopsy is necessary to confirm the diagnosis of ectopic germinomas. Serial neuroimaging studies can not only differentiate disease but also determine the biopsy site.