基于OCTA的中心性浆液性脉络膜视网膜病变患者脉络膜新生血管检测

目的观察光学相干断层扫描血管成像(OCTA)在中心性浆液性脉络膜视网膜病变(CSC)患者脉络膜新生血管(CNV)检测中的应用价值。方法回顾性病例观察研究。选取2018年3月至2019年3月在云南省第二人民医院诊断为慢性中心性浆液性脉络膜视网膜病变伴脉络膜新生血管患者30例(34眼)纳入研究,总结分析其OCTA与眼底彩色照相、眼底自发荧光、荧光素眼底血管造影(FFA)和OCT等传统影像学对比运用的临床体会。结果12眼FFA存在荧光素渗漏,但形态模糊,不能确定是否伴有CNV,行OCTA则可以清晰显示新生血管影像。8眼FFA未检出CNV,但OCTA清晰显示出新生血管形态。3眼眼底彩色照相及OCT检查高度怀疑CNV的存在,但因荧光素钠皮试阳性,均无法实施FFA,而OCTA则显示出病变区域血流信号,明确了CNV的存在。6眼FFA无明显荧光素渗漏,OCT示无神经上皮层脱离、无色素上皮层脱离,但OCTA提示CNV的存在。5眼通过随访过程中的病情跟踪观察,发现给予患者单一抗VEGF或PDT治疗之后视网膜下积液无明显吸收,而联合治疗后积液明显吸收。结论OCTA在CNV的检查敏感性方面优于传统的检测手段。OCTA可以作为一项安全有效的眼底影像学检查手段对慢性CSC患者的CNV进行观察,从而指导该类患者的诊断、治疗及预后分析。     

Opa1 Overexpression Protects from Early-Onset Mpv17−/−-Related Mouse Kidney Disease

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Bioinformatic identification of key candidate genes and pathways in axon regeneration after spinal cord injury in zebrafish

Zebrafish and human genomes are highly homologous;however,despite this genomic similarity,adult zebrafish can achieve neuronal proliferation,regeneration and functional restoration within 6–8 weeks after spinal cord injury,whereas humans cannot.To analyze differentially expressed zebrafish genes between axon-regenerated neurons and axon-non-regenerated neurons after spinal cord injury,and to explore the key genes and pathways of axonal regeneration after spinal cord injury,microarray GSE56842 was analyzed using the online tool,GEO2R,in the Gene Expression Omnibus database.Gene ontology and protein-protein interaction networks were used to analyze the identified differentially expressed genes.Finally,we screened for genes and pathways that may play a role in spinal cord injury repair in zebrafish and mammals.A total of 636 differentially expressed genes were obtained,including 255 up-regulated and 381 down-regulated differentially expressed genes in axon-regenerated neurons.Gene Ontology and Kyoto Encyclopedia of Genes and Genomes enrichment results were also obtained.A protein-protein interaction network contained 480 node genes and 1976 node connections.We also obtained the 10 hub genes with the highest correlation and the two modules with the highest score.The results showed that spectrin may promote axonal regeneration after spinal cord injury in zebrafish.Transforming growth factor beta signaling may inhibit repair after spinal cord injury in zebrafish.Focal adhesion or tight junctions may play an important role in the migration and proliferation of some cells,such as Schwann cells or neural progenitor cells,after spinal cord injury in zebrafish.Bioinformatic analysis identified key candidate genes and pathways in axonal regeneration after spinal cord injury in zebrafish,providing targets for treatment of spinal cord injury in mammals.     

Responses of Types 1 and 2 Neovascularization in Age-Related Macular Degeneration to Anti-Vascular Endothelial Growth Factor Treatment: Optical Coherence Tomography Angiography Analysis

Purpose: To compare the responses of types 1 (sub-pigment epithelial) and 2 (subretinal) neovascularization in neovascular age-related macular degeneration (AMD) to anti-vascular endothelial growth factor (VEGF) treatment.

Methods: Fifty-five treatment-naïve neovascular AMD eyes (53 patients) were retrospectively included for analysis. All patients were treated with three loading injections of anti-VEGF agent, followed by further injections as required. The lesion size and vascular density of type 1 and 2 lesions before and after treatment for 12 months were analyzed using optical coherence tomography angiography (OCTA).

Results: The mean lesion size of the type 1 neovascularization group (42 eyes) showed no significant change from 2.12 ± 1.01 mm² at baseline to 2.08 ± 0.91 mm² at 12 months (P = .682). However, the mean lesion size of type 2 neovascularization significantly decreased from 1.23 ± 0.93 mm² at baseline to 0.79 ± 0.61 mm² at 12 months (P = .022). The proportion of eyes with lesion sizes that decreased by more than 40% from baseline was also significantly higher for the type 2 compared to the type 1 neovascularization group (46.2% versus 11.9%, P = .007). Vascular density showed no significant changes for both groups after treatment and showed no association with the change in lesion size. There was no significant difference between the groups in terms of visual acuity improvement.

Conclusion: OCTA analysis revealed different responses to anti-VEGF treatment depending on the location of neovascularization in neovascular AMD. Type 2 neovascularization was significantly regressed compared to type 1 neovascularization after anti-VEGF treatment. However, the changes in vascular density and visual outcome showed no significant differences between groups after 12 months of treatment.     

Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection

ObjectiveTo increase the likelihood of finding a causative genetic variant in patients with a focal segmental glomerulosclerosis (FSGS) lesion, clinical and histologic characteristics were analyzed.Patients and MethodsIndividuals 18 years and older with an FSGS lesion on kidney biopsy evaluated at Mayo Clinic from November 1, 1999, through October 31, 2019, were divided into 4 groups based on clinical and histologic characteristics: primary FSGS, secondary FSGS with known cause, secondary FSGS without known cause, and undetermined FSGS. A targeted gene panel and a customized gene panel retrieved from exome sequencing were performed.ResultsThe overall rate of detection of a monogenic cause was 42.9% (21/49). Individuals with undetermined FSGS had the highest rate of positivity (87.5%; 7/8) followed by secondary FSGS without an identifiable cause (61.5%; 8/13) and secondary FSGS with known cause (33.3%; 5/15). Four of 5 (80%) individuals in the latter group who had positive genetic testing results also had a family history of kidney disease. Univariate analysis showed that family history of kidney disease (odds ratio [OR], 13.8; 95% CI, 3.7 to 62.4; P<.001), absence of nephrotic syndrome (OR, 8.2; 95% CI, 1.9 to 58.1; P=.004), and female sex (OR, 5.1; 95% CI, 1.5 to 19.9; P=.01) were strong predictors of finding a causative genetic variant in the entire cohort. The most common variants were in the collagen genes (52.4%; 11/21), followed by the podocyte genes (38.1%; 8/21).ConclusionIn adults with FSGS lesions, proper selection of patients increases the rate of positive genetic testing significantly. The majority of individuals with undetermined FSGS in whom the clinical presentation and histologic parameters are discordant had a genetic diagnosis.