Isolated diffuse choroidal hemangioma without systemic symptoms: a case report.

BACKGROUND: Sturge-Weber syndrome is a nonhereditary congenital neurocutaneous syndrome characterized by a distinctive facial capillary malformation,neurological abnormalities, and ocular abnormalities such as glaucoma and choroidal hemangioma.It can be divided into different subtypes according to different clinical manifestations. It is rare for a patient to present with isolated difuse choroidal hemangioma and ipsilateral abnormal conjunctival and episcleral vessels without other systemic symptoms. CASE PRESENTATION: We report a 30-year-old man with isolated diffuse choroidal hemangioma in his right eye without systemic symptoms, such as vascular malformations in the skin or leptomeningeal angiomatosis. The only additional ophthalmic finding was ipsilateral abnormal conjunctival and episcleral vessels without glaucoma. However, there was no evidence of leptomeningeal angiomatosis or port-wine stain on the right side of the face, or glaucoma, which are common clinical manifestations of the Sturge-Weber syndrome (SWS).The absence of these characteristic symptoms did not preclude the diagnosis, and the patient could be diagnosed with a particular subtype of SWS. CONCLUSIONS: This is a rare case of documented isolated difuse choroidal hemangioma with ipsilateral abnormal conjunctival and episcleral vessels without glaucoma which we think it is belonging to a particular subtype of SWS.In addition to the traditional clinical manifestations, more and more atypical clinical manifestations are also accompanied by SWS, which requires our clinicians to continuously discover and report, so as to help more clinicians understand this disease.

Tartary Buckwheat Flavonoids Improve Colon Lesions and Modulate Gut Microbiota Composition in Diabetic Mice.

Tartary buckwheat flavonoids (TBFs) exhibit diverse biological activities, with antioxidant, antidiabetes, anti-inflammatory, and cholesterol-lowering properties. In this study, we investigated the role of TBFs in attenuating glucose and lipid disturbances in diabetic mice and hence preventing the occurrence of diabetes-related colon lesions in mice by regulating the gut microbiota. The results showed that TBFs (1) reversed blood glucose levels and body weight changes; (2) improved levels of serum total cholesterol (TC), triglycerides (TGs), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6), and fasting insulin; and (3) significantly reduced diabetes-related colon lesions in diabetic mice. In addition, TBFs also affected the diabetes-related imbalance of the gut microbiota and enriched beneficial microbiota, including Akkermansia and Prevotella. The TBF also selectively increased short-chain fatty acid-producing bacteria, including Roseburia and Odoribacter, and decreased the abundance of the diabetes-related gut microbiota, including Escherichia, Mucispirillum, and Bilophila. The correlation analysis indicated that TBFs improved metabolic parameters related to key communities of the gut microbiota. Our data suggested that TBFs alleviated glucose and lipid disturbances and improved colon lesions in diabetic mice, possibly by regulating the community composition of the gut microbiota. This regulation of the gut microbiota composition may explain the observed effects of TBFs to alleviate diabetes-related symptoms.

LncRNA CCAT1 sponges miR-218-5p to promote EMT, cellular migration and invasion of retinoblastoma by targeting MTF2.

Retinoblastoma (RB) is the primary neoplasms of the retina that is most common in pediatrics age. Long non-coding RNAs (lncRNAs) has been noticed for strong relation to the occurrence and progress of retinoblastoma. Previously, we have demonstrated that lncRNA colon cancer-associated transcript 1 (CCAT1) in two RB cell lines SO-RB50 and Y79 was obviously overexpressed, and notably, lncRNA CCAT1 attenuated miR-218-5p expressionand induced proliferation, cell migration and invasion. But, how lncRNA CCAT1 acts in RB development and the potential molecular mechanisms remain to be determined. In this study, the expression levels of lncRNA CCAT1 and miR-218-5p were evaluated in RB tissues by Q-PCR, which established the results in the cell lines. Further, lncRNA CCAT1 was shown to promote epithelial-to-mesenchymal transition (EMT), cellular migration and invasion of RB cells by functional analysis of downregulation and overexpression of lncRNA CCAT1 with specific siRNA and pcDNA transfection. By performing bioinformatics and dual luciferase reporter assay, we verified the direct interaction between lncRNA CCAT1 and miR-218-5p. Besides, bioinformatics analysis indicated that metal regulatory transcription factor 2 (MTF2) might be a potent novel target for miR-218-5p, which was further validated with luciferase reporter assay, Q-PCR and also Western blot analysis. Functional analysis and rescue analysis showed that lncRNA CCAT1 via competitive binding to miR-218-5p to modulate MTF2 expression thus accelerate EMT, cell migration and invasion of RB. In conclusion, here we identified the lncRNA CCAT1/miR-218-5p/MTF2 axis in RB cell lines. Our investigations on the function of lncRNA CCAT1 and the roles of the related molecules hint a novel potential target fo RB therapy.

Bilateral retrocorneal hyaline scrolls secondary to asymptomatic congenital syphilis: A case report.

BACKGROUND: Retrocorneal hyaline scrolls are a rare phenomenon. We report a case of bilateral retrocorneal hyaline scrolls that were likely induced by asymptomatic congenital syphilis. CASE SUMMARY: A 71-year-old woman presented with blurred vision due to cataracts. Slit-lamp microscopy revealed bilateral hyaline scrolls with a dichotomous branching pattern extending to the anterior chamber or rods attaching to the rough posterior surface of the cornea. The patient was positive for syphilis-specific antibodies, with no ocular or systemic evidence of congenital or acquired syphilis. Binocular cataract, retrocorneal scroll, and corneal endothelial gutta were considered. The scroll of the right eye was removed during cataract surgery and further observed using hematoxylin-eosin staining and scanning electron microscopy. The cornea of the right eye remained transparent, and the residual scroll seemed stable, however, the corneal endothelial density declined at 13 mo after surgery. In vivo confocal microscopy revealed coalescence of corneal guttae at the level of the corneal endothelium or adhesion to the posterior surface of the endothelium, with enlarged endothelial cells in both eyes. Activated keratocytes in the stroma and a highly reflective acellular structure at the level of the Descemet's membrane were observed. The removed scroll had a cartilage-like hardness and a circularly arranged fiber-like acellular structure. CONCLUSION: Occult congenital syphilis could induce corneal endothelial gutta and the formation of retrocorneal scrolls without other signs of ocular syphilis.

Long non-coding RNA CCAT1 promotes human retinoblastoma SO-RB50 and Y79 cells through negative regulation of miR-218-5p.

OBJECTIVE: To investigate the regulatory role and potential mechanism of long non-coding RNAs (lncRNA) in human retinoblastoma (RB). METHODS: The lncRNA profile in RB tissues were analyzed by microarray and quantitative reverse transcription PCR (qRT-PCR). One of the identified lncRNAs (LncRNA CCAT1) was selected for further experiments. SO-RB50 and Y79 cells were transfected with negative control, siRNA targeting lncRNA CCAT1 (si-CCAT1) and si-CCAT1+miR218-5p inhibitor, respectively. lncRNA CCAT1 expression was measured by qRT-PCR. Cell proliferation, migration and invasion were detected by CCK8, wound scratching, and transwell assay, respectively. Apoptosis and cell cycle distribution were assessed by flow cytometry. Apoptosis- (cle-caspase-3, cle-caspase-9, Bax and Bcl-2) and cell cycle-related protein expression (cyclin B1, CDC2 and p-CDC2 (Thr161)) were analyzed by Western blot. RESULTS: lncRNA CCAT1 expression in SO-RB50 and Y79 cells was significantly inhibited after si-CCAT1 transfection (P<0.01). Both RB cells exhibited significantly reduced proliferation, migration and invasion abilities, but markedly increased apoptosis at 48h after si-CCAT1 transfection (P<0.05 or 0.01). RB cells in si-CCAT1+miR218-5p inhibitor group had significantly higher proliferation, migration and invasion, but notably lower apoptosis compared with si-CCAT1 group at 24 and 48h after transfection (all P<0.05 or 0.01). si-CCAT1 significantly increased the expression of cle-caspase-3, cle-caspase-9, Bax, but decreased Bcl-2 expression (P<0.01). The proportion of G2/M SO-RB50 and Y79 cells in siCCAT1 group was significantly increased compared with negative control group (P<0.01). LncRNA CCAT1 interference significantly reduced the expression of cyclin B1, CDC2 and p-CDC2 (Thr161) (P<0.01). CONCLUSION: LncRNA CCAT1 promotes the proliferation migration and invasion, and reduces cell apoptosis of SO-RB50 and Y79 cells, probably through negative modulation of miR-218-5p. Our study suggested lncRNA CCAT1 as a potential biomarker and therapeutic target for RB.

Association between polymorphisms of OGG1, EPHA2 and age-related cataract risk: a meta-analysis.

BACKGROUND: Evidences have identified the correlation of 8-oxoguanine DNA glycosylase-1 (OGG1) and eph-receptor tyrosine kinase-type A2 (EPHA2) polymorphisms in age-related cataract (ARC) risk. However, the results were not consistent. The objective of this study was to examine the role of these two gene polymorphisms in ARC susceptibility. METHODS: Eligible case-control studies published between January 2000 and 2015 were searched and retrieved in the electronic databases. The odds ratio with 95 % confidence interval (CI) was employed to calculate the strength of the relationship. RESULTS: We totally screened out six articles, including 5971 cataract patients and 4189 matched controls. Three variants were contained (OGG1 rs1052133; EPHA2 rs7543472 and rs11260867). For OGG1 rs1052133, we detected a significant correlation between OGG1 polymorphism and ARC risk under the heterogenous model (CG vs. CC: OR = 1.34, 95 % CI = 1.06-1.70, P = 0.01) and dominant model (GG+CG vs. CC: OR = 1.45, 95 % CI = 1.16-1.81, P = 0.001), especially in patients with cortical cataract of subgroup analysis by phenotypes (P < 0.05). For EPHA2 rs7543472 and rs11260867, we did not find a positive association between these two mutations and ARC susceptibility in total cases. Subgroup analysis by phenotypes of cataract showed that only in cortical cataract, genotypes of rs7543472 under the allele model, homogenous model and recessive model; genotypes of rs11260867 under the heterogenous model and dominant model were associated with ARC risk. CONCLUSIONS: OGG1 rs1052133 (CG and CG+GG genotypes) might be risk factor for ARC, particularly in cortical cataract risk. EPHA2 rs7543472 (T allele and TT genotype) and rs11260867 (CG and GG+CG genotypes) might be associated with cortical cataract.