Objective:To study the clinical phenotype and molecular genetic characteristics of a Chinese Han family with X-linked retinoschisis (XLRS), and to determine the associated gene variations.Methods:A pedigree investigation was performed.The clinical characteristics and pedigree analysis of a Han Chinese family line with XLRS was conducted in August 2021 at the Xiamen Eye Center Affiliated to Xiamen University.All patients and the carriers underwent comprehensive medical history collection and routine ophthalmological examinations, including visual acuity, non-contact tonometer, slit lamp microscope, direct ophthalmoscope, and optical coherence tomography.The proband and some patients underwent medical optometry, fundus photography or wide-angle fundus photography, and electroretinogram examination.Peripheral venous blood samples were collected from the family members, and whole exome sequencing (WES) analysis was performed on the proband samples.For variants screened by WES, the expanded verification in other patients and normal persons in the family was carried out by Sanger sequencing.Multiple bioinformatic tools were used to analyze the pathogenicity of variants.This study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.XMYKZX-KY-2021-012). Written informed consent forms were obtained from each subject or guardian of minors.CADD, FATHMM and other bioinformatics tools were used to analyze the pathogenicity of the variation sites.Results:The Han XLRS pedigree consisted of 8 individuals in 3 generations.Out of the 3 cases diagnosed with XLRS based on clinical evaluation, all were male.The mother of the proband was a carrier of related genes.There were 5 persons with normal phenotypes.There was no history of consanguineous marriages within the family, and the disease was shown to be intergenerational, which is consistent with the recessive inheritance of the X chromosome.None of the patients had a history of systemic disease or any other abnormal manifestations.The prevailing feature of ophthalmopathy was poor binocular vision since childhood.The proband and his younger brother had spoke split in the macula, and their grandfather showed atrophy of retinal nerve fibers.Genetic analysis revealed a hemizygous variation c. 214G>C: p.Glu72Gln in the RS1 gene in all the patients in this family.The proband's mother was heterozygous at this site, and all other phenotypically normal family members exhibited wild type at this site.This variant was predicted to be a deleterious variation and likely to cause disease based on bioinformatics analysis. Conclusions:The proband and patients in this Han Chinese family have the known c. 214G>C: p.Glu72Gln hemizygous variation of the RS1 gene and exhibit mild XLRS, which was consistent with the recessive inheritance of X chromosome.

Objective:To explore the clinical features and pathogenic causes of a Chinese Han family with Wagner syndrome, and to analyze the relationship between VCAN gene mutation and patient phenotype. Methods:The method of family pedigree investigation was adopted.A Chinese Han family with Wagner syndrome in 3 generations including 13 family members was collected in Xiamen Eye Center of Xiamen University in January 2020, and 5 patients from 3 generations were diagnosed.All members underwent a comprehensive medical history collection and routine ophthalmological examinations, including visual acuity, intraocular pressure, slit lamp microscopy, and ophthalmoscopy to analyze the condition of anterior segment and fundus.Anterior segment photography, fundus photography, optical coherence tomography and ultrasound biological microscopy were carried out in the proband and some patients to analyze the condition of anterior segment, fundus and anterior chamber angle.The peripheral venous blood of all family members was collected for genomic DNA extraction, and pathogenic gene variation analysis for verification was through high-throughput target region capture sequencing and Sanger sequencing.Variants were scored using the American College of Medical Genetics and Genomics (ACMG) guidelines, and the structure and function of variants were predicted through PredictProtein.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.MR-35-22-002800).Written informed consent was obtained from each subject.Results:The Chinese pedigree with Wagner syndrome was in accordance with autosomal dominant inheritance pattern, and all patients had no history of systemic disease or other abnormal manifestations.The common ophthalmic features of the patients were abnormal suspensory ligament, premature cataract, vitreous cavity, vitreous condensation, veil-like proliferative membrane in the vitreous cavity, retinal choroid atrophy and thinning, tractional retinal detachment, and retinal pigmentation.The proband had binocular cataract surgery, and binocular intraocular lens dislocation occurred after the operation.Genetic analysis revealed that a heterozygous splice site variation c.9265+ 1G>A in the VCAN gene in this family was co-segregated with the disease phenotype and graded as a likely pathogenic variant by the ACMG guidelines.This variant base pair substitution could cause the formation of a protein product with 1 754 amino acids shorter, resulting in insufficient haploid dosage and severe reduction of glycosaminoglycan attachment sites, making the versican protein dysfunctional. Conclusions:It is the first time to report a Chinese family with Wagner syndrome in China, and it is confirmed that the family has a heterozygous variation in the VCAN gene c.9265+ 1G>A by molecular genetic analysis.

Objective:To analyze the clinical and molecular genetic characteristics of a Chinese family with congenital cataract-microcornea syndrome.Methods:The method of pedigree investigation was adopted.A Chinese Han family with congenital cataract-microcornea syndrome was recruited in Xiamen Eye Center of Xiamen University.All the family members received detailed ophthalmologic examination including the best corrected visual acuity, intraocular pressure measurement by handheld applanation tonometry, slit lamp biomicroscopy, color fundus photography, B-scan ultrasonography, corneal diameter, anterior segment optical coherence tomography, ultrasound biomicroscopy, corneal endoscopy, and corneal topography.Genomic DNA was extracted from peripheral venous blood from some patients and unaffected family members.Targeted high-throughput DNA sequencing was performed on the proband.The sequencing chip contained 188 known pathogenic genes related to lens abnormalities.Suspected pathogenic genes were verified by Sanger sequencing in phenotypically normal family members to identify the co-segregation and the disease-causing gene.Bioinformatics analysis was performed to analyze the pathogenicity of variants by REVEL.Conserved protein domains were analyzed by InterPro.Physicochemical property of the mutant protein was analyzed by ProtParam.The deleteriousness of the protein was predicted by PolyPhen-2.Homology of the variants in pathogenic gene was analyzed by NCBI website to compare the conservation among various species.This study followed the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.XMYKZX-LW-2009-003).Written informed consent was obtained from each subject prior to entering the study cohort.Results:There were 39 members of 4 generations in this family including 11 patients with an autosomal dominant inheritance pattern.Clinical features of the patients included congenital cataract and microcornea.No obvious abnormality was found in ophthalmic and general examination.A heterozygous mutation c. 61C>T in the CRYAA gene was found, resulting in the mutation of the amino acid from arginine to tryptophan (p.Arg21Trp) at position 21, consistent with co-segregation.The number of cationic cluster in the mutant protein decreased, and the hydrophilicity and stability were reduced.The variant was predicted to be deleterious and was highly conserved in multiple species. Conclusions:A novel heterozygous mutation c.61C>T p. Arg21Trp in CRYAA gene is considered as the causal gene of this family.It is the first time this variant has been reported in China.

OBJECTIVETo investigate the effects of siRNAs targeting CD97 immune epitopes on proliferation, infiltration, apoptosis and cell cycle of breast cancer cells.

METHODSsiRNA sequences targeting CD97and CD97immune epitopes were designed according to Gene Bank NM_001025160.2 with smart siCatchsiRNA design software. CD97siRNAs were transfected into MDA-MB231 cells in which CD97 was highly expressed. Highest sensitive CD97and CD97siRNA were screened by Western blotting. Inverted microscope was used to observe the growth of CD97siRNAs-transfected MDA-MB231 cells; the proliferation activity of MDA-MB231 cells was detected by MTT method; the wound healing assay and Transwell migration test were performed to examine the migration and infiltration ability of CD97and CD97siRNA-transfected MDA-MB231 cells; the effects of CD97siRNA and CD97siRNA on cell apoptosis and cell cycle of MDA-MB231 cells were detected by TUNEL and flow cytometry.

RESULTSThe growth and proliferation activity of CD97siRNAs-transfected MDA-MB231 cells were significantly lower than those in the control groups, and such differences were more significant in CD97siRNA-transfected group (all<0.05); scratch test showed that the wound healing rate was lower in CD97siRNAs-transfected groups, especially in CD97siRNA-transfected group (all<0.05); Transwell migration showed that the number of MDA-MB231 cells crossing through chambers were less in CD97siRNAs-transfected groups, especially in CD97siRNA-transfected group (all<0.05); no significant difference in cell apoptosis was observed between CD97siRNAs-transfected groups and control groups; cell cycle detection showed that CD97siRNAs-transfected groups had less cells in G/Gphase and more cells in S phase compared with the control groups, and such effect on cell cycle was more marked in CD97siRNA-transfected group (all<0.05).

CONCLUSIONSCD97 plays an important role in the cell growth, proliferation, migration and invasion of breast cancer MDA-MB231 cells, and compared with CD97, CD97may have more effective inhibitory effects on cellular malignant behaviors.

Central pancreatectomy is an ideal surgical procedure for the treatment of benign or low-grade malignant tumors in the pancreatic neck or the proximal body of the pancreas,and it can preserve more normal pancreatic tissue in order to reduce the incidence of endocrine and exocrine insufficiency after surgery.Although some clinical studies have demonstrated the feasibility and safety of this procedure,laparoscopic central pancreatectomy was technically challenging with a few number of cases.This article reviews the current status of laparoscopic central pancreatectomy and introduces our clinical experience of laparoscopic central pancreatectomy and pancreaticojejunostomy.

Objective To isolate and culture rats liver KCS ,and to explore the effect of IRE1-XBP1 pathway on regulation of polarization in activated Kupffer cells (KCs) .Methods (1)Rat KCs were isolated by Ⅳ type collagenase digestion and gradient cen-trifugation methods .(2)KCs were transfected and randomly divided into four groups :XBP1-shRNA group ,Ctrl-shRNA group , AdV-XBP1 group and Ctrl-AdV group .(3)The transfection level of KCs XBP1 ,IL-6 ,IFN-γ ,TNF-α and IL-17 were detected by RT-PCR ;the protein expression level of JAK1 ,JAK2 ,STAT1 and STAT3 were evaluated by Western blot .(4)The changes of KCs expression type in each group were detected by flow cytometry (FCM ) and the laser confocal .(5)T cells derived from rat spleen cells were co-cultured within the 4 groups of KCs mentioned above ;T cells proliferation was measured by Brdu labeling assay .(6)T cells apoptosis was determined by Annexin V /PI FCM analysis .(7)The density of IL-6 ,IFN-γ ,TNF-α ,IL-17 and IL-10 in the su-pernatant of co culture was assessed by ELISA .Results (1)The mRNA and protein level of XBP1 were measured by RT-PCR and western blot ,those in XBP1-shRNA group were significantly reduced compared with those in the other three groups ,while in AdV-XBP1 groups ,results demonstrated entirely the opposite tendency (P< 0 .05) .(2)The expression of marker molecules on the sur-face of KCs such as M HC Ⅱ ,CD86 and CD40 in XBP1-shRNA group were significantly lower (P< 0 .05) ,but CD204 and CD206 expression were much higher compared with the other three (P< 0 .05) .However the expression tendency of these surface markers were shown the opposite results in AdV-XBP1 group (P < 0 .05) .(3)Western blot revealed the XBP1-shRNA could statistically suppress the protein levels and phosphorylation of JAK 1 ,JAK2 ,STAT1 and STAT3 ,which involved in the pro inflammatory cyto-kines regulation and KCs polarization (P< 0 .05) .But in AdV-XBP1 group ,these protein and its phosphorylation were markedly promoted (P< 0 .05) .ELISA results collaborated with Western blot .(4)3 d after co cultured with KCs transfected with XBP1-shR-NA ,the levels of T lymphocyte proliferation and pro inflammatory cytokines secretion were significantly reduced ,but the levels of T lymphocyte apoptosis and anti inflammatory cytokines secretion were remarkably enhanced (P< 0 .05) .Conclusion Blockage of IRE1-XBP1 activation could alter the phenotype of active KCs to M 2 like type and attenuated the capacity of antigen present of KCs ,while up regulated the expression of IRE1-XBP1 pathway could change the phenotype of KCs to M 1 type plus the promotion of antigen present capacity .

Objective To investigate the current situation in construction of WeChat public platform in 9 class A hospitals affiliated to Sichuan Province in Chengdu. Methods The problems and the reasons why they occurred in construction of WeChat public platform in these 9 hospitals were analyzed by literature analysis, interview, Topsis and RSR analysis, and their combination. Results The problems found in hospital WeChat public platform included imperfect management, unmatched construction level and hospital scale, insufficient government policy support and effective supervising mechanisms. Conclusion Hospitals should strengthen the construction and management of their WeChat public platform, innovatively construct their WeChat public platform, win over sufficient government policy support, and improve their supervising mechanisms.

Objective To investigate dynamic metabolism in vivo of Ginkgo Folium Tablet under the guidance of sequential metabolism thoughts. Methods In situ closed-loop in rats was carried out to study sequential metabolism of Ginkgo Folium Tablet through oral digestive system, namely to investigate and compare the intestinal flora metabolism, the gut wall metabolism and hepatic metabolism, combined with chromatographic fingerprint of blood samples. Results The analysis showed that 12 peaks in Ginkgo Folium Tablet were metabolized by intestinal flora, and 7 peaks generated through the gut wall. Most components of Ginkgo Folium Tablet were metabolized in liver, and 3 original medicine components were directly into the blood. Conclusion This study conducts a qualitative description of metabolism of Ginkgo Folium Tablet in different parts of the oral route, and provides references for the quality control, mechanism explanation and secondary development for Ginkgo Folium Tablet.

Objective To discuss the clinical characteristics of hepatic perivascularepithelioid cell tumor (PEComa). Methods Clinical data of one patient with hepatic PEComa in the Second Affiliated Hospital, Zhejiang University School of Medicine in 2011 were analyzed retrospectively. The informed consent of the patient was obtained and the ethical committee approval was received. The patient was a 25-year-old female and was admitted in hospital for the physical examination finding of space occupying lesions in the liver. The results of physical and laboratory examinations were normal. Multiple round-like mass of low density with poorly defined borders were observed in the liver by CT scan. Significant enhancement was observed in the arterial phase by enhancement scan, and homo- or hypo-enhancement in the delayed phase. The liver lesions showed intermediated signal intensity on T1WI by MRI and slightly hyperintense on T2WI. Significant enhancement was observed in the arterial phase after enhancement and degraded in the delayed phase. The patient was primarily diagnosed with liver focal nodular hyperplasia clinically. Results After sufficient preoperative preparation, hepatectomy was performed on the patient under general anesthesia by tracheal intubation on December 8th , 2011. The tumor was observed
composed of polygonal morphology cells of epithelial cells without lipocytes or abnormal blood vessels by pathological examination. The tumor was observed with strongly positive human melanoma black-45 (HMB-45), smooth muscle actin (SMA), and positive vimentin, cluster of differentiation (CD) 34. The diagnosis of hepatic PEComa was confirmed pathologically. The patient recovered well and was discharged from hospital 1 week after operation. No recurrence or metastasis was observed during the regular follow-up till the submission date. Conclusions Hepatic PEComa is extremely rare without specific clinical manifestation. The diagnosis depends on the pathological examination. Surgical resection is an effective method for the tumor with a good prognosis.

Sepsis is a common acute systemic infection,severe sepsis has a high rate of mortality,and its incidence rate is rising year by year.Due to the overproduction of free radicals in sepsis,microcirculation blood is drived disorder,multiple organ function can be impaired.This review describes the role of ascorbic acid in sepsis patients,which can reverse the oxidative stress injury rapidly through an eNOS-dependent mechanism,resisting platelet adhersion,preventing capillary embolism,resevering microcirculation blood flow,so as to improve patients' survival.