Objective To investigate the association between serum β2-microglobulin （β2M） and the severity of white matter hyperintensities （WMHs） in patients with cerebral small vessel disease （CSVD）， as well as the value of β2M in predicting the severity of WMHs. Methods This study was conducted among the patients who were consecutively admitted to The Second People's Hospital of Hefei from December 2021 to April 2024 and whose cranial MRI findings were consistent with the radiological features of WMHs.The Fazekas scale was used to assess the severity of periventricular white matter hyperintensities （PWMHs） and deep white matter hyperintensities （DWMHs）. According to the sum of the scores of the above two regions， the patients with 0‒2 points were enrolled as none or mild WMHs group， and those with 3-6 points were enrolled as moderate or severe WMHs group； according to a difference of ≥1 point between the scores of the two regions， the patients were divided into predominant PWMHs （pred-PWMHs） subgroup and predominant DWMHs （pred-DWMHs） subgroup， and each subgroup was further divided into mild group （with a Fazekas score of 1 point） and moderate or severe group （with a Fazekas score of 2‒3 points）. The univariate and multivariate logistic regression analyses were used to identify independent risk factors for overall WMHs， PWMHs， and DWMHs. The receiver operating characteristic （ROC） curve was plotted to assess the value of β2M in predicting moderate or severe overall WMHs. Results A total of 346 patients were enrolled in the study. The univariate analysis showed that age， hypertension， fibrinogen， homocysteine， cystatin C， total cholesterol， low-density lipoprotein cholesterol， eGFR， and β2M were associated with the severity of WMHs（all P<0.05）， and the multivariate logistic regression analysis showed that age， hypertension， and β2M were independent risk factors for moderate or severe WMHs （all P<0.05）. The ROC curve analysis showed that at the cut-off value of 2.295， β2M had a certain value in predicting moderate or severe WMHs， with an area under the ROC curve of 0.673 （P<0.001）. In the subgroup analysis，β2M was also identified as an independent risk factor for moderate or severe PWMHs （P=0.048）， while no association was observed between β2M and the severity of DWMHs. Conclusion The serum level of β2M is associated with the severity of WMHs and PWMHs， but it is not associated with DWMHs. Furthermore， β2M has a certain value in predicting moderate or severe WMHs.

Objective : To investigate the effect of laminarin(LAM) on nonproliferative diabetes retinopathy by high throughput sequencing(RNA-seq). Methods : The diabetes model was established by intraperitoneal injection of streptozotocin(STZ), and the effect of LAM on diabetic mice was observed.C57BL/6 mice were randomly divided into three groups: Control group, Model group, and LAM group, with 8 mice in each group. After 8 weeks of modeling, the LAM group received a 4-week intraperitoneal injection of LAM treatment. Changes in blood glucose and body weight of the three groups of mice were recorded, HE staining was performed to examine retinal lesions, and RNA-seq was used to identify differentially expressed genes(DEGs) in diabetic retinopathy(DR) under the action of STZ and LAM. Results : STZ successfully established the model of DR, and LAM reduced the blood sugar in diabetic mice to a certain extent and improved the pathological morphology of retinal structural looseness in diabetic mice. After RNA-seq analysis of DEGs, it was found that there were a total of 214 DEGs in the retina of the Model group mice compared to the Control group. Enrichment analysis revealed that DR could exacerbate the lesions through the PI3K Akt signaling pathway. There were a total of 42 DEGs in the retina of the Model group and LAM group mice, and enrichment showed that LAM improved the lesions through the neutrophil extracellular trap pathway. Early growth response factor 1(Egr1), FBJ osteosarcoma oncogene(Fos), nuclear receptor subfamily 4A member 1(Nr4a1), and salt-induced kinase 1(Sik1) were regulated by STZ, and LAM significantly regulated their expression, which might be closely related to LAM′s treatment of diabetic retinopathy. Conclusion DEGs can exacerbate the severity of diabetic retinopathyviathe PI3K-Akt signaling pathway. LAM can mitigate diabetic retinopathyviathe neutrophil extracellular trap pathway. Egr1, Fos, Nr4a1, and Sik1 are key genes involved in LAM treatment of STZ-induced DR.

Objective:To investigate the relationship between three-dimensional choroidal vascularity index (3D CVI) and the severity of diabetic retinopathy (DR) using swept-source optical coherence tomography angiography (SS-OCTA).Methods:A cross-sectional study was conducted.A total of 139 eyes of 139 subjects, including 115 eyes with diabetes mellitus and 24 control eyes without diabetes, were enrolled in the Second People's Hospital of Hefei from March to December 2022.DR was graded according to the standard seven-field ETDRS color fundus photographs.Eyes with diabetes mellitus were divided into non-DR (NDR) group (34 eyes), non-proliferative DR (NPDR) group (42 eyes), NPDR with diabetic macular edema (DME) group (21 eyes) and PDR group (18 eyes).3D CVI in central fovea 1 mm (C1) and parafoveal 3 mm (C3), choroidal vascular volume (CVV), and choroidal thickness were measured by SS-OCTA in the area of 3 mm×3 mm centered on the fovea using the built-in automated quantification software.Parafoveal region was divided into superior, inferior, temporal and nasal quadrants, and 3D CVI of the different quadrants was detected.3D CVI was defined as the ratio of CVV to total choroidal volume.The monocular data were analyzed to compare 3D CVI among the five groups, and multiple linear regression analysis was used to evaluate the influencing factors.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of the Second People's Hospital of Hefei, Hefei Hospital Affiliated to Anhui Medical University (No.2022064).All subjects were aware of the study purpose and agreed to participate the study.Results:There were significant differences in 3D CVI-C1 and 3D CVI-C3 among all groups ( F=3.103, 3.036, both at P<0.05).In PDR group, 3D CVI-C1 was lower than in non-DR group, and 3D CVI-C3 was lower than in control group and non-DR group, with statistically significant differences (all at P<0.05).There were significant differences in 3D CVI in the inferior and nasal quadrants among all groups ( F=2.714, 4.020, both at P<0.05).In PDR group, 3D CVI in the inferior quadrant was lower than that in non-DR group, and 3D CVI in nasal quadrant in PDR group was lower than that in control group, non-DR group, NPDR group and NPDR with DME group, with statistically significant differences (all at P<0.05).Multiple linear regression showed that after controlling for age, course of disease and glycosylated hemoglobin, the severity of DR was the influencing factor of 3D CVI in fovea and parafovea.PDR eyes had the greatest impact on 3D CVI in fovea and parafovea.Compared with non-DR eyes, there was a -0.019(95% CI: -0.031--0.007, P=0.003) decrease in central foveal 3D CVI and a -0.019(95% CI: -0.030--0.008, P=0.001) decrease in parafoveal 3D CVI in PDR eyes, followed by a 0.014(95% CI: -0.027-0.000, P=0.044) decrease in central foveal 3D CVI in NPDR with DME eyes. Conclusions:Macular foveal 3D CVI correlates with DR severity, and a decrease in 3D CVI of large vessels in the macular choroid may be a sensitive indicator of DR exacerbation.

Objective:To investigate the association of white matter hyperintensities (WMHs) with long-term stroke recurrence in patients with recent subcortical small infarcts (RSSIs).Methods:Consecutive patients admitted to the Department of Neurology, Hefei Hospital Affiliated to Anhui Medical University between January 2019 and August 2022 and met the clinical and imaging manifestations of RSSIs were collected. The demographic characteristics, baseline clinical data, and MRI features were collected. Using stroke recurrence as the endpoint event, the recurrence time was recorded, and Cox regression model was used to analyze relevant factors affecting stroke recurrence in patients with RSSIs.Results:A total of 202 patients were enrolled, including 138 males (68.3%), aged 67.9±10.5 years. Seventy-seven patients (38.1%) were mild WMHs, 64 (31.7%) were moderate WMHs, and 61 (30.2%) were severe WMHs. There were statistically significant differences in age, history of stroke, hypertension, hyperlipidemia, total cholesterol, infarct thickness, and infarct distribution among different WMHs severity groups (all P<0.05). The median follow-up time was 40.5 months (interquartile range, 27.7-49.0 months), and a total of 55 patients (27.2%) had stroke recurrence (ischemic stroke 54, occipital hemorrhage 1). Recurrence rates of stroke in the mild, moderate, and severe WMHs groups were 18.2%, 31.3%, and 34.4%, respectively. Cox regression analysis showed that WMHs were an independent risk factor for stroke recurrence (compared to the mild group, the risk ratio of the severe group was 2.225, 95% confidence interval was 1.116-4.436; P=0.023). Conclusion:The risk of long-term stroke recurrence in patients with RSSI is associated with the severity of WMHs.

Objective To identify possible associated genetic variants and characterise the clinical presentation of isolated ectopia lentis (IEL).Methods Forty-eight members with 5 generations of an IEL family were enrolled in this study.Peripheral blood samples of all members were collected, and clinical manifestations were observed through physical examination and routine ophthalmological examination.Whole-exome sequencing (WES) was per-formed for two patients to identify disease-causing variants.The target variants were verified by Sanger sequencing in family members and 200 normal controls.Then, candidate variants were verified using Sanger sequencing in family members and 200 healthy controls.SIFT, PolyPhen and MutationTester were used to predict the protein function.Results A total of 13 IEL patients in this family which inherited in an autosomal dominant pattern.The mean age at disease onset was 51.5 years.The main clinical phenotype of this ICE was characterised by ectopia lentis which anterior inclinated to the anterior chamber.As the anterior chamber became shallow, and the angle of the chamber became narrow, and eventually resulted in the secondary glaucoma.A heterozygous missense variant in the fibrillin gene-1 (FBN1) gene (c.3463G>A) was identified by WES, which was present in all patients but was absent in 200 healthy controls.SIFT, PolyPhen and MutationTester predicted that the variant affected protein function.Conclusion This IEL family is characterized by secondary glaucoma as the first symptom which is caused by ectopia lens with inclination.The c.3463G>A of FBN1 gene may be the pathogenic mutation leading to IEL in this family.

Aiming at the obstacle avoidance in simulated prosthetic vision,an improved instance segmentation model SOLOv2-RS is proposed for providing a basis for implant recipients to accurately perceive the relevant instance objects of navigation tasks in low-resolution prosthetic vision.According to the visual attention mechanism,the distance from the center of the visual field and the target scale are adopted as the importance calculation criteria for each instance,and the obtained importance score is used as the basis for the hierarchical representation of the obstacles to be avoided.Meanwhile,edge information is used to cue the tactile paving,and it is morphologically inflated for avoiding the edge information loss caused by the limited phosphene.The prosthetic vision simulation results demonstrate that the hierarchical optimization processing strategy for simulated prosthetic vision can effectively achieve the optimal representation of tactile paving and obstacles,thus facilitating the implant recipients to accomplish outdoor obstacle avoidance tasks more efficiently,and providing ideas for the research on the image processing of visual prosthetic devices.

Objective To identify possible associated genetic variants and characterise the clinical presentation of isolated ectopia lentis (IEL).Methods Forty-eight members with 5 generations of an IEL family were enrolled in this study.Peripheral blood samples of all members were collected, and clinical manifestations were observed through physical examination and routine ophthalmological examination.Whole-exome sequencing (WES) was per-formed for two patients to identify disease-causing variants.The target variants were verified by Sanger sequencing in family members and 200 normal controls.Then, candidate variants were verified using Sanger sequencing in family members and 200 healthy controls.SIFT, PolyPhen and MutationTester were used to predict the protein function.Results A total of 13 IEL patients in this family which inherited in an autosomal dominant pattern.The mean age at disease onset was 51.5 years.The main clinical phenotype of this ICE was characterised by ectopia lentis which anterior inclinated to the anterior chamber.As the anterior chamber became shallow, and the angle of the chamber became narrow, and eventually resulted in the secondary glaucoma.A heterozygous missense variant in the fibrillin gene-1 (FBN1) gene (c.3463G>A) was identified by WES, which was present in all patients but was absent in 200 healthy controls.SIFT, PolyPhen and MutationTester predicted that the variant affected protein function.Conclusion This IEL family is characterized by secondary glaucoma as the first symptom which is caused by ectopia lens with inclination.The c.3463G>A of FBN1 gene may be the pathogenic mutation leading to IEL in this family.

Objective To identify possible associated genetic variants and characterise the clinical presentation of isolated ectopia lentis (IEL).Methods Forty-eight members with 5 generations of an IEL family were enrolled in this study.Peripheral blood samples of all members were collected, and clinical manifestations were observed through physical examination and routine ophthalmological examination.Whole-exome sequencing (WES) was per-formed for two patients to identify disease-causing variants.The target variants were verified by Sanger sequencing in family members and 200 normal controls.Then, candidate variants were verified using Sanger sequencing in family members and 200 healthy controls.SIFT, PolyPhen and MutationTester were used to predict the protein function.Results A total of 13 IEL patients in this family which inherited in an autosomal dominant pattern.The mean age at disease onset was 51.5 years.The main clinical phenotype of this ICE was characterised by ectopia lentis which anterior inclinated to the anterior chamber.As the anterior chamber became shallow, and the angle of the chamber became narrow, and eventually resulted in the secondary glaucoma.A heterozygous missense variant in the fibrillin gene-1 (FBN1) gene (c.3463G>A) was identified by WES, which was present in all patients but was absent in 200 healthy controls.SIFT, PolyPhen and MutationTester predicted that the variant affected protein function.Conclusion This IEL family is characterized by secondary glaucoma as the first symptom which is caused by ectopia lens with inclination.The c.3463G>A of FBN1 gene may be the pathogenic mutation leading to IEL in this family.

Objective To identify possible associated genetic variants and characterise the clinical presentation of isolated ectopia lentis (IEL).Methods Forty-eight members with 5 generations of an IEL family were enrolled in this study.Peripheral blood samples of all members were collected, and clinical manifestations were observed through physical examination and routine ophthalmological examination.Whole-exome sequencing (WES) was per-formed for two patients to identify disease-causing variants.The target variants were verified by Sanger sequencing in family members and 200 normal controls.Then, candidate variants were verified using Sanger sequencing in family members and 200 healthy controls.SIFT, PolyPhen and MutationTester were used to predict the protein function.Results A total of 13 IEL patients in this family which inherited in an autosomal dominant pattern.The mean age at disease onset was 51.5 years.The main clinical phenotype of this ICE was characterised by ectopia lentis which anterior inclinated to the anterior chamber.As the anterior chamber became shallow, and the angle of the chamber became narrow, and eventually resulted in the secondary glaucoma.A heterozygous missense variant in the fibrillin gene-1 (FBN1) gene (c.3463G>A) was identified by WES, which was present in all patients but was absent in 200 healthy controls.SIFT, PolyPhen and MutationTester predicted that the variant affected protein function.Conclusion This IEL family is characterized by secondary glaucoma as the first symptom which is caused by ectopia lens with inclination.The c.3463G>A of FBN1 gene may be the pathogenic mutation leading to IEL in this family.

Objective To identify possible associated genetic variants and characterise the clinical presentation of isolated ectopia lentis (IEL).Methods Forty-eight members with 5 generations of an IEL family were enrolled in this study.Peripheral blood samples of all members were collected, and clinical manifestations were observed through physical examination and routine ophthalmological examination.Whole-exome sequencing (WES) was per-formed for two patients to identify disease-causing variants.The target variants were verified by Sanger sequencing in family members and 200 normal controls.Then, candidate variants were verified using Sanger sequencing in family members and 200 healthy controls.SIFT, PolyPhen and MutationTester were used to predict the protein function.Results A total of 13 IEL patients in this family which inherited in an autosomal dominant pattern.The mean age at disease onset was 51.5 years.The main clinical phenotype of this ICE was characterised by ectopia lentis which anterior inclinated to the anterior chamber.As the anterior chamber became shallow, and the angle of the chamber became narrow, and eventually resulted in the secondary glaucoma.A heterozygous missense variant in the fibrillin gene-1 (FBN1) gene (c.3463G>A) was identified by WES, which was present in all patients but was absent in 200 healthy controls.SIFT, PolyPhen and MutationTester predicted that the variant affected protein function.Conclusion This IEL family is characterized by secondary glaucoma as the first symptom which is caused by ectopia lens with inclination.The c.3463G>A of FBN1 gene may be the pathogenic mutation leading to IEL in this family.