Background Clinical work found that triamcinolone acetonide (TA)bleeding during vitrectomy in proliferative diabetic retinopathy (PDR),but its mechanism is not clear.Objective This study was to explore the anastalsis of TA in vitrectomy for PDR.Methods A prospective study was performed.Twelve eyes of 12 patients who received vitrectomy combined with the intraocular use of TA for PDR were in cluded in Tianjin Medical University General Hospital from 2011 to 2014 and served as TA group.Thirty-two eyes of 32 patients who underwent vitrectomy for epimacular membrane or macular hole were enrolled as control group.The vitreous specimens of 0.6 ～0.8 ml was collected during the surgery.The concentrations of urokinase plasminogen activator (u-PA),tissue plasminogen activator (t-PA) and plasminogen activator inhibitors 1 (PAI-1) in vatreous were measured by ELISA.Results The mean contents u-PA,t-PA and PAI-1 in the vatreous were 25.45,127.44 and 0.42 ng/ml respectively in the TA group,and those the mean contents in the control group were 22.94,142.37 and 0.27 ng/ml respectively,shouwing a significant difference between the TA group and the control group (Z=-2.268,P＜0.05).NO significant difference was found in vitreous t-PA and PAI-1 between TA and control groups (Z =-0.092,-1.847,both at P＞0.05).Conclusions Vitreous u-PA content is increased in PDR eyes,which is more likely to lead bleeding.Anastalsis of TA during vitrectomy for PDR may be relatived to decreasing vitreous t-PA and u-PA contents as well as increasing PAI-1 contents.

Objective:To observe the level of microparticles in the vitreous of patients with proliferative diabetic retinopathy (PDR), and preliminarily explore the role of microparticles in the pathogenesis of PDR.Methods:A case control study. From January to December 2018, 54 cases of 54 eyes of PDR patients (PDR group) and 20 cases of non-diabetic retinopathy patients (control group), who were diagnosed and treated with vitrectomy (PPV) in the Department of Ophthalmology, Tianjin Medical University General Hospital vitreous samples were included in the study. Among 54 eyes in the PDR group, there were 42, 21, and 17 eyes with vitreous hemorrhage (VH), traction retinal detachment (TRD), and previous intravitreal injection of drugs, respectively. Among the 20 eyes of the control group, idiopathic macular hole, idiopathic anterior macular membrane, vitreous macular traction syndrome, and complete lens dislocation were 6, 6, 2, and 6 eyes, respectively. The PDR group was divided into uncombined TRD group and combined TRD group according to PDR stage and whether TRD occurred, with 33 and 21 eyes, respectively. According to the presence or absence of VH, they were divided into groups with VH and without VH, with 42 eyes and 12 eyes, respectively. According to whether anti-vascular endothelial growth factor (VEGF) drugs were injected into the intravitreal cavity 3 days before PPV, they were divided into anti-VEGF drug group and no anti-VEGF drug group, with 17 eyes and 37 eyes respectively. The levels of retinal photoreceptor cells (RMP), platelets (PMP), endothelial cells (EMP) and phosphatidylserine (PS-MP) expressing on the membrane surface in the sample were detected by flow cytometry. The comparison between the two groups of samples was performed by t test, and the comparison between multiple groups of samples was performed by one-way analysis of variance or Mann-Whitney test. Results:Compared with the control group, the vitreous RMP level of the PDR group was significantly decreased, and the EMP and PMP levels were significantly increased. The differences were statistically significant ( t=-2.361, 5.064, 3.531; P=0.018, <0.001, 0.001). There was no statistically significant difference in PS-MP levels between the two groups ( t=-1.617, P=0.110). Compared with the TRD group, the levels of RMP and PMP in the vitreous of the TRD group were significantly increased, and the difference was statistically significant ( t=-2.221, -2.098; P=0.031, 0.041). The level of EMP in the vitreous body of the anti-VEGF drug group was significantly lower than that of the non-anti-VEGF drug group, however, it was still higher than the control group. The difference was statistically significant ( Z=-2.430, -2.499; P=0.015, 0.012). The level of PMP in the vitreous body of the eye without VH was significantly higher than that in the group with VH, and the difference was statistically significant ( t=-3.097, P=0.003). Conclusions:The elevated levels of EMP and PMP in the vitreous of PDR patients may be related to the damage of retinal capillaries; intravitreal injection of anti-VEGF drugs before surgery can reduce the level of EMP. VH may be related to the procoagulant effect of PMP.

OBJECTIVE: To provide a basis for genetic counseling and clinical precision therapy by exploring the genetic etiology of a child with recurrent hypoglycemia convulsion accompanied by language retardation. METHODS: Peripheral blood samples were obtained from the proband, his sister and his parents. Whole genomic DNA was extracted and analyzed by the whole exon gene sequencing and confirmed by Sanger sequencing. RESULTS: The proband and his sister were found to carry compound heterozygous variants c.731T>A (p.M244L) and c.928G>A (p.G244S) of the GYS2 gene, which had not been reported in the past, the c.731T>A (p.M244L) site was derived from the maternal heterozygous mutation, while c.928G>A (p.G244S) site from the father heterozygous mutation. CONCLUSION The compound heterozygous variants c.731T>A (p.M244L) and c.928G>A (p.G244S) of the GYS2 gene were the genetic cause of glycogen storage syndrome type 0 in children, providing basis for family genetic counseling. When the patient had Hypoglycemia often accompanied with convulsions, which was easy to be misdiagnosed as seizures, and the antiepileptic treatment was ineffective. After genetic diagnosis, the seizure can be controlled by improving diet to maintain blood glucose stability.
Child ; Exons ; Glycogen ; Heterozygote ; Humans ; Mutation ; Pedigree ; Siblings

Objective:To investigate the variation of T, B, NK lymphocyte subgroup in children with anti-N-methyl-D-aspartate receptor(NMDAR)encephalitis and their clinical significance.Methods:This was a prospective and control study.Forty children primarily diagnosed with anti-NMDAR encephalitis in the department of neurology in Guangzhou Women and Children′s Medical Center from January 2017 to August 2019 served as patient group, 20 healthy children served as control group.Absolute counts and percentages of T, B and NK lymphocytes in whole blood were detected before and 1 month after treatment in patient group.Serum immunoglobulin G(IgG), IgA and IgM were measured before treatment.The blood levels of T, B, NK lymphocyte subgroup were detected with flow cytometer.NMDAR antibody titers of serum and cerebrospinal fluid were detected in patient group.The differences between patient group at different time points and control group were compared.The patients were divided into two groups according to the response to treatment after 2 weeks and the absolute counts of T, B and NK lymphocytes before treatment were compared between groups.Results:Compared with control group, the blood absolute count of B lymphocyte in patient group were significantly higher before and after treatment( P<0.05). There was no significant difference of B lymphocyte in patient group between before and after treatment.After treatment, T cells(including T inhibitory cells and T helper cells)were significantly increased compared with those before treatment and those in control group( P<0.05), but there was no significant difference between patient group and control group before treatment.These with poor response to treatment after 2 weeks had higher level of B, T lymphocyte subgroup compared to those with good response( P<0.05). The level of IgG, IgA, IgM in patient group showed no significant difference with control group.There was no significant correlation between B lymphocyte count in blood and NMDAR antibody titer in cerebrospinal fluid( r=0.282, P>0.05). Conclusion:B lymphocytes increase greatly in children with anti-NMDAR encephalitis, and the level of B lymphocyte subgroup before treatment are associated with treatment response, and T lymphocytes increase greatly after treatment.There is no significant correlation between the titer of NMDAR antibody in cerebrospinal fluid and B lymphocyte level.