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1.
BMC Ophthalmol ; 24(1): 216, 2024 May 21.
Article En | MEDLINE | ID: mdl-38773513

BACKGROUND: Primary vitreous cyst is a clinical variant delineated by the existence of a vesicle within the vitreous cavity from birth. This particular disease tends to be uncommon, and the underlying mechanisms contributing to its pathogenesis remain obscure. CASE PRESENTATION: A 37-year-old male patient manifested blurry vision and floaters in his right eye, a symptomology first noticed three months prior. Upon slit-lamp examination, a pigmented, round, 1 papilla diameter-sized mass was discerned floating in the vitreous. A meticulous examination of the floaters was conducted using an array of multimodal imaging techniques. Other potential conditions, including cysticercosis, toxoplasmosis, and tumors, were conclusively excluded through comprehensive diagnostic tests such as blood examinations, liver ultrasound, and cranial magnetic resonance imaging (MRI), resulting in the diagnosis of a primary vitreous cyst. The patient did not report any other discomforts and did not receive any subsequent interventions or treatments. CONCLUSION: We furnish an exhaustive case report of a patient diagnosed with a primary vitreous cyst. The incorporation of multimodal images in the characterization of the disease anticipates facilitating an enriched comprehension by medical practitioners.


Cysts , Eye Diseases , Multimodal Imaging , Vitreous Body , Humans , Male , Adult , Cysts/diagnostic imaging , Cysts/diagnosis , Vitreous Body/diagnostic imaging , Vitreous Body/pathology , Eye Diseases/diagnosis , Eye Diseases/diagnostic imaging , Eye Diseases/parasitology , Magnetic Resonance Imaging , Tomography, Optical Coherence/methods
2.
BMC Genomics ; 25(1): 367, 2024 Apr 15.
Article En | MEDLINE | ID: mdl-38622534

The tissue damage caused by transient ischemic injury is an essential component of the pathogenesis of retinal ischemia, which mainly hinges on the degree and duration of interruption of the blood supply and the subsequent damage caused by tissue reperfusion. Some research indicated that the retinal injury induced by ischemia-reperfusion (I/R) was related to reperfusion time.In this study, we screened the differentially expressed circRNAs, lncRNAs, and mRNAs between the control and model group and at different reperfusion time (24h, 72h, and 7d) with the aid of whole transcriptome sequencing technology, and the trend changes in time-varying mRNA, lncRNA, circRNA were obtained by chronological analysis. Then, candidate circRNAs, lncRNAs, and mRNAs were obtained as the intersection of differentially expression genes and trend change genes. Importance scores of the genes selected the key genes whose expression changed with the increase of reperfusion time. Also, the characteristic differentially expressed genes specific to the reperfusion time were analyzed, key genes specific to reperfusion time were selected to show the change in biological process with the increase of reperfusion time.As a result, 316 candidate mRNAs, 137 candidate lncRNAs, and 31 candidate circRNAs were obtained by the intersection of differentially expressed mRNAs, lncRNAs, and circRNAs with trend mRNAs, trend lncRNAs and trend circRNAs, 5 key genes (Cd74, RT1-Da, RT1-CE5, RT1-Bb, RT1-DOa) were selected by importance scores of the genes. The result of GSEA showed that key genes were found to play vital roles in antigen processing and presentation, regulation of the actin cytoskeleton, and the ribosome. A network included 4 key genes (Cd74, RT1-Da, RT1-Bb, RT1-DOa), 34 miRNAs and 48 lncRNAs, and 81 regulatory relationship axes, and a network included 4 key genes (Cd74, RT1-Da, RT1-Bb, RT1-DOa), 9 miRNAs and 3 circRNAs (circRNA_10572, circRNA_03219, circRNA_11359) and 12 regulatory relationship axes were constructed, the subcellular location, transcription factors, signaling network, targeted drugs and relationship to eye diseases of key genes were predicted. 1370 characteristic differentially expressed mRNAs (spec_24h mRNA), 558 characteristic differentially expressed mRNAs (spec_72h mRNA), and 92 characteristic differentially expressed mRNAs (spec_7d mRNA) were found, and their key genes and regulation networks were analyzed.In summary, we screened the differentially expressed circRNAs, lncRNAs, and mRNAs between the control and model groups and at different reperfusion time (24h, 72h, and 7d). 5 key genes, Cd74, RT1-Da, RT1-CE5, RT1-Bb, RT1-DOa, were selected. Key genes specific to reperfusion time were selected to show the change in biological process with the increased reperfusion time. These results provided theoretical support and a reference basis for the clinical treatment.


MicroRNAs , RNA, Long Noncoding , Reperfusion Injury , Rats , Animals , RNA, Circular/genetics , RNA, Long Noncoding/genetics , MicroRNAs/genetics , RNA, Messenger/genetics , RNA, Messenger/metabolism , Transcriptome , Reperfusion Injury/genetics , Computational Biology/methods , Ischemia , Gene Regulatory Networks
3.
BMC Med Genomics ; 16(1): 101, 2023 05 13.
Article En | MEDLINE | ID: mdl-37179305

BACKGROUND: Retinoblastoma (RB) is frequently occurring malignant tumors that originate in the retina, and their exact cause and development mechanisms are yet to be fully comprehended. In this study, we identified possible biomarkers for RB and delved into the molecular mechanics linked with such markers. METHODS: In this study GSE110811 and GSE24673 were analyzed. Weighted gene co-expression network analysis (WGCNA) was applied to screen modules and genes associated with RB. By overlapping RB-related module genes with differentially expressed genes (DEGs) between RB and control samples, differentially expressed retinoblastoma genes (DERBGs) were acquired. A gene ontology (GO) enrichment analysis and a kyoto encyclopedia of genes and genomes (KEGG) enrichment analysis were conducted to explore the functions of these DERBGs. To study the protein interactions of DERBGs, a protein-protein interaction (PPI) network was constructed. Hub DERBGs were screened using the least absolute shrinkage and selection operator (LASSO) regression analysis, as well as the random forest (RF) algorithm. Additionally, the diagnostic performance of RF and LASSO methods was evaluated using receiver operating characteristic (ROC) curves and single-gene gene set enrichment analysis (GSEA) was conducted to explore the potential molecular mechanisms involved with these Hub DERBGs. In addition, the competing endogenous RNA (ceRNA) regulatory network of Hub DERBGs was constructed. RESULT: About 133 DERBGs were found to be associated with RB. GO and KEGG enrichment analyses revealed that the important pathways of these DERBGs. Furthermore, the PPI network revealed 82 DERBGs interacting with each other. By RF and LASSO methods, PDE8B, ESRRB, and SPRY2 were identified as Hub DERBGs in patients with RB. From the expression assessment of Hub DERBGs, it was found that the levels of expression of PDE8B, ESRRB, and SPRY2 were significantly decreased in the tissues of RB tumors. Secondly, single-gene GSEA revealed a connection between these 3 Hub DERBGs and oocyte meiosis, cell cycle, and spliceosome. Finally, the ceRNA regulatory network revealed that hsa-miR-342-3p, hsa-miR-146b-5p, hsa-miR-665, and hsa-miR-188-5p may play a central role in the disease. CONCLUSION: Hub DERBGs may provide new insight into RB diagnosis and treatment based on the understanding of disease pathogenesis.


MicroRNAs , Retinal Neoplasms , Retinoblastoma , Humans , Retinoblastoma/genetics , Gene Expression Profiling , Retina , Computational Biology , Retinal Neoplasms/genetics , Gene Regulatory Networks , Membrane Proteins , Intracellular Signaling Peptides and Proteins
4.
BMC Cancer ; 20(1): 808, 2020 Aug 26.
Article En | MEDLINE | ID: mdl-32847550

BACKGROUND: This study aimed to determine the efficacy and complications of intravitreal chemotherapy-assisted endoresection for refractory International Classification of Retinoblastoma (ICRB) group D retinoblastoma in monocular patients. METHODS: In this retrospective case series, intravitreal chemotherapy-assisted endoresection by pars plana vitrectomy was performed in 11 eyes with refractory ICRB group D retinoblastoma unresponsive to standard therapies in monocular patients. RESULTS: Across a mean follow-up period of 42.7 months, globe salvage was attained in all 11 eyes (100%). There were no cases of extra-ocular tumour seeding or remote metastasis. In 9 eyes (81.8%), tumour control was achieved with one pars plana vitrectomy; in 2 cases (18.2%), repeated treatment, such as laser therapy, intravitreal chemotherapy or a second pars plana vitrectomy, was needed. Retinal reattachment was achieved in all 4 eyes (100%) with previous retinal detachment. Four eyes (36.4%) required subsequent cataract surgery due to secondary cataract. Ten eyes (90.9%) had improvement in best-corrected visual acuity at the last follow-up. CONCLUSION: Intravitreal chemotherapy-assisted endoresection appears to be a safe and effective globe-salvaging method for refractory group D retinoblastoma. It is a promising alternative to enucleation and a supplementary therapeutic strategy for those unresponsive to standard therapies, especially for the monocular retinoblastoma patients.


Neoplasm Recurrence, Local/epidemiology , Retinal Neoplasms/therapy , Retinoblastoma/therapy , Salvage Therapy/methods , Topotecan/administration & dosage , Vitrectomy/methods , Chemotherapy, Adjuvant/adverse effects , Chemotherapy, Adjuvant/methods , Child , Child, Preschool , Follow-Up Studies , Humans , Infant , Intravitreal Injections , Neoadjuvant Therapy/adverse effects , Neoadjuvant Therapy/methods , Neoplasm Recurrence, Local/prevention & control , Neoplasm Seeding , Retinal Neoplasms/pathology , Retinoblastoma/pathology , Retrospective Studies , Salvage Therapy/adverse effects , Topotecan/adverse effects , Treatment Outcome , Visual Acuity , Vitrectomy/adverse effects , Vitreous Body/drug effects , Vitreous Body/pathology , Vitreous Body/surgery
5.
Int J Ophthalmol ; 13(8): 1202-1209, 2020.
Article En | MEDLINE | ID: mdl-32821673

AIM: To investigate the effects of collagen and opticin on the bioactivity of human retinal vascular endothelial cells (hRVECs), and explore its regulations by integrins and RhoA/ROCK1 signal pathway. METHODS: hRVECs were cultured in collagen and treated by opticin, and cell-based bioactivity assays of cell proliferation, migration, and adhesion were performed. The expression of integrin α2, integrin ß1, RhoA and ROCK1 were examined with real-time PCR and Western blotting. RESULTS: Collagen could promote cell viability of proliferation and migration (all P<0.05), and enhance the mRNA expression of integrin α2, integrin ß1, RhoA and ROCK1 (all P<0.05). Opticin could inhibit proliferation and migration ability of hRVECs cultured in collagen, and reduce the mRNA expression of integrin α2, integrin ß1, RhoA and ROCK1 (all P<0.05). CONCLUSION: Collagen and opticin can affect bioactivity of hRVECs, which may be regulated by α2-, ß1-integrins and RhoA/ROCK1 signal pathway.

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