Objective:To investigate the clinical and genetic characteristics of developmental and epileptic encephalopathy (DEE) caused by SLC1A2 gene mutations. Methods:The clinical manifestations, auxiliary examination results, and genetic testing results of a patient with DEE caused by SLC1A2 gene mutations who was treated at Epilepsy Center, Children's Hospital Affiliated to Shandong University on February 6, 2021 were summarized. Cases of SLC1A2 gene mutations were searched using keywords " SLC1A2" and "developmental and epileptic encephalopathy" in CNKI, Wanfang, and PubMed databases, retrieving literature published from the establishment of these databases to September 2024. Bioinformatics analysis was performed; the clinical and genetic characteristics of DEE caused by SLC1A2 gene mutations were summarized. Results:The main manifestations of the patient were rhythmic shaking of the right upper limb or focal motor seizures of bilateral upper limbs, or focal spasm of right upper limb (elevation for once). Ictal electroencephalogram showed 2-3 Hz polymorphic slow waves in the left central area, parietal area and central midline area, affecting the opposite side, or spike rhythm with decreased frequency in the right frontal area, central area and midline area, or polymorphic slow waves in the left central area and central midline area. Whole-exome sequencing indicated a heterozygous de novo mutation in the SLC1A2 gene: c.254T>G/p.Leu85Arg. A total of 7 patients with DEE caused by SLC1A2 gene mutations were retrieved from 5 related literature. All 8 patients (including the patient in our hospital) presented with epileptic seizure, developmental delay, and abnormal EEG; all of them were sporadic cases with de novo heterozygous missense mutations of SLC1A2 gene. Bioinformatics analysis showed that the 4 amino acid residues Gly82, Leu85, Pro289, and Pro333 in the 8 patients were located in the intolerance region of SLC1A2 gene encoding glutamate transporter protein 2 (EAAT2). The 5 amino acid mutations (Leu85Arg, Leu85Pro, Gly82Arg, Pro333Ser, Pro289Arg) in the 8 patients all led to significant changes in number and binding of hydrogen bonds between amino acid residues in EAAT2; except for Gly82Arg mutation, the other 4 mutations could obviously reduce the structural stability of EAAT2. Conclusion:De novo heterozygous missense mutations in SLC1A2 gene can lead to DEE, characterized by developmental delay, EEG abnormalities, and epileptic seizure; these mutations are typically located in critical regions of EAAT2, potentially resulting in reduced protein structural stability.

Objective:To evaluate the clinical value and effect of the application of computer navigation system in orbital-zygomatic fibrous dysplasia.Methods:From March 2016 to December 2018, 16 patients with orbital-zygomatic fibrous dysplasia admitted to Shanghai 9th People’s Hospital, Shanghai Jiao Tong University School of Medicine were included in this study. CT scans and computer aided designs were finished preoperatively. By mirrored and compared with the healthy side, preoperative-designed lesion removal area was determined and surgical regions were highlighted. Digital reference frame was fixed rigidly to patient’s forehead. After accurate registration, lesion area was removed with the aid of surgical navigation system according to preoperative-designed plan restrictively through lower eyelid-intraoral approach. The symmetric morphology of orbital-zygomatic region was analyzed postoperatively. Zygomaxillare, oribitale, zygomaticand lower orbital point of zygomatic maxillary were marked both in preoperative and postoperative three-dimensional reconstructions, and the distance between them and mid-sagittal plane was measured. Paired- t tests were applied in this study for symmetric analysis. Results:In this study, 16 patients with orbital zygomatic bone fiber dysplasia assisted by computer navigation were included, consisted of 12 males and 4 females, ranging from 18 years old to 35 years old. The differences of preoperative symmetric analysis in zygomaxillare, oribitale, zygomatic had statistical significance( P<0.01). The difference of preoperative symmetric analysis in lower orbital point of zygomatic maxillary had no statistical significance( P>0.05). The differences of postoperative symmetric analysis in zygomaxillare, oribitale, zygomatic and lower orbital point of zygomatic maxillary had no statistical significance( P>0.05). The difference in zygomaxillare decreased from(10.1±6.2) mm to(2.7±6.4) mm. The difference in oribitale(ORI)decreased from(7.7±4.6) mm to(1.9±3.9) mm. The difference in zygomatic decreased from(8.5±7.5) mm to(0.7±1.5)mm. The difference in lower orbital point of zygomatic maxillary decreased from(1.9±3.5) mm to(0.6±2.1) mm. The morphology of the affected side and the healthy side was symmetrical. The contour was natural and no postoperative complications occurred. The postoperative satisfaction rate was high. Conclusions:Computer navigation system can solve the problem of limited exposure of lower eyelid-intraoral approach in orbital-zygomatic fibrous dysplasia and significantly improve the accuracy, effectiveness and safety during surgery.

Objective:To evaluate the clinical value and effect of the application of computer navigation system in orbital-zygomatic fibrous dysplasia.Methods:From March 2016 to December 2018, 16 patients with orbital-zygomatic fibrous dysplasia admitted to Shanghai 9th People’s Hospital, Shanghai Jiao Tong University School of Medicine were included in this study. CT scans and computer aided designs were finished preoperatively. By mirrored and compared with the healthy side, preoperative-designed lesion removal area was determined and surgical regions were highlighted. Digital reference frame was fixed rigidly to patient’s forehead. After accurate registration, lesion area was removed with the aid of surgical navigation system according to preoperative-designed plan restrictively through lower eyelid-intraoral approach. The symmetric morphology of orbital-zygomatic region was analyzed postoperatively. Zygomaxillare, oribitale, zygomaticand lower orbital point of zygomatic maxillary were marked both in preoperative and postoperative three-dimensional reconstructions, and the distance between them and mid-sagittal plane was measured. Paired- t tests were applied in this study for symmetric analysis. Results:In this study, 16 patients with orbital zygomatic bone fiber dysplasia assisted by computer navigation were included, consisted of 12 males and 4 females, ranging from 18 years old to 35 years old. The differences of preoperative symmetric analysis in zygomaxillare, oribitale, zygomatic had statistical significance( P<0.01). The difference of preoperative symmetric analysis in lower orbital point of zygomatic maxillary had no statistical significance( P>0.05). The differences of postoperative symmetric analysis in zygomaxillare, oribitale, zygomatic and lower orbital point of zygomatic maxillary had no statistical significance( P>0.05). The difference in zygomaxillare decreased from(10.1±6.2) mm to(2.7±6.4) mm. The difference in oribitale(ORI)decreased from(7.7±4.6) mm to(1.9±3.9) mm. The difference in zygomatic decreased from(8.5±7.5) mm to(0.7±1.5)mm. The difference in lower orbital point of zygomatic maxillary decreased from(1.9±3.5) mm to(0.6±2.1) mm. The morphology of the affected side and the healthy side was symmetrical. The contour was natural and no postoperative complications occurred. The postoperative satisfaction rate was high. Conclusions:Computer navigation system can solve the problem of limited exposure of lower eyelid-intraoral approach in orbital-zygomatic fibrous dysplasia and significantly improve the accuracy, effectiveness and safety during surgery.

Objective: To investigate the correlation between interleukin-6 (IL-6) single nucleotide polymorphism (SNP) and the occurrence and prognosis of hepatitis B virus-associated acute-on-chronic liver failure (HBV-ACLF). Methods: Patients with chronic hepatic diseases diagnosed as HBV infection in the Hepatology Center of the First Affiliated Hospital of Fujian Medical University from July 2012 to March 2018 were divided into HBV-ACLF and non-ACLF group. SNP genotyping of eight loci in IL-6 gene (rs1524107, rs1800795, rs1800797, rs2069827, rs2069830, rs2069837, rs2069840 and rs2069845) was determined by the improved multi-temperature ligase detection reaction (imLDRTM) technique. Simultaneously, case data were reviewed with the 3-months followed up survival condition of the ACLF group. Normally distributed data were expressed as arithmetic means and SDs, and t-test was adopted. Data with skewed distribution were expressed as medians with interquartile range, and were measured by non-parametric test. Multivariate logistic regression analysis was used to analyze the relative risk of genetic polymorphism and HBV-ACLF as well as the relationship between IL-6 SNPs with the occurrence and prognosis of HBV-ACLF. Results: Four hundred patients were included in the study, with 122 (30.5%) in the HBV-ACLF and 278 (69.5%) in the non-ACLF group. There were significant differences in total bilirubin, albumin, and white blood cell count, percentage of neutrophils, platelet count, alanine aminotransferase, aspartate aminotransferase, prothrombin time and international standardized ratio, creatinine and the model for end-stage liver disease score between the two groups (P < 0.001). The genotype of IL-6 genes (rs1800795, rs1800797, rs2069827, and rs2069830) of all subjects showed no mutation or the mutation rate under 1%. There was no significant difference in the genotype of IL-6 (rs1524107, rs2069837, rs2069840 and rs2069845) between the two groups (P > 0.05). Multivariate logistic regression analysis showed that the SNPs in the above four loci of IL-6 gene was not associated with HBV-ACLF risk, nor had significant correlation with the 3-months prognosis. Conclusion The SNP genotyping of eight loci in IL-6 gene (rs1524107, rs1800795, rs1800797, rs2069827, rs2069830, rs2069837, rs2069840 and rs2069845) is unrelated to the occurrence and short-term prognosis of HBV-ACLF.

Objective To investigate the correlation between interleukin-6(IL-6)single nucleotide polymorphism(SNP)and the occurrence and prognosis of hepatitis B virus-associated acute-on-chronic liver failure(HBV-ACLF).Methods Patients with chronic hepatic diseases diagnosed as HBV infection in the Hepatology Center of the First Affiliated Hospital of Fujian Medical University from July 2012 to March 2018 were divided into HBV-ACLF and non-ACLF group.SNP genotyping of eight loci in IL-6 gene(rs1524107,rsl800795,rsl 800797,rs2069827,rs2069830,rs2069837,rs2069840 and rs2069845)was determined by the improved multi-temperature ligase detection reaction(imLDRTM)technique.Simultaneously,case data were reviewed with the 3-months followed up survival condition of the ACLF group.Normally distributed data were expressed as arithmetic means and SDs,and t-test was adopted.Data with skewed distribution were expressed as medians with interquartile range,and were measured by non-parametric test.Multivariate logistic regression analysis was used to analyze the relative risk of genetic polymorphism and HBV-ACLF as well as the relationship between IL-6 SNPs with the occurrence and prognosis of HBV-ACLF.Results Four hundred patients were included in the study,with 122(30.5%)in the HBV-ACLF and 278(69.5%)in the non-ACLF group.There were significant differences in total bilirubin,albumin,and white blood cell count,percentage of neutrophils,platelet count,alanine aminotransferase,aspartate aminotransferase,prothrombin time and international standardized ratio,creatinine and the model for end-stage liver disease score between the two groups(P<0.001).The genotype of IL-6 genes(rsl800795,rsl800797,rs2069827,and rs2069830)of all subjects showed no mutation or the mutation rate under 1%.There was no significant difference in the genotype of IL-6(rs 1524107,rs2069837,rs2069840 and rs2069845)between the two groups(P > 0.05).Multivariate logistic regression analysis showed that the SNPs in the above four loci of IL-6 gene was not associated with HBV-ACLF risk,nor had significant correlation with the 3-months prognosis.Conclusion The SNP genotyping of eight loci in IL-6 gene(rs 1524107,rs1800795,rs1800797,rs2069827,rs2069830,rs2069837,rs2069840 and rs2069845)is unrelated to the occurrence and short-term prognosis of HBV-ACLF.

Objective To investigate the association between interleukin-22 (IL-22) single nucleotide polymorphisms (SNPs) and the prognosis of hepatitis B virus related acute-on-chronic liver failure (HBV-ACLF).Methods The patients with HBV-ACLF from the First Affiliated Hospital of Fujian Medical University were retrospectively studied.Seven SNP genotypes of IL-22 gene,including rs2227478,rs2227491,rs1179251,rs1179249,rs2227473,rs2227484,and rs11611206,were detected using imLDRTM multiple SNP typing kit and the distribution features of SNP genotypes were described.The relationship between the distribution of SNP genotypes and alleles and the prognosis of ACLF was analyzed.Comparison of genotypes and allele frequencies between groups were performed by chi-square test of R × C table or Fisher's exact tests.Binary logistic regression analysis was used to analyze whether IL-22 gene polymorphisms was an independent prognostic factor for patients with ACLF.Results A total of 122 patients with HBV-ACLF were included in this study.Ninety-two (75.1％) were male and 30 (24.59 ％) were female.Patients were stratified as survival group (90 cases) and non-survival group (32cases) according to the Results of three months follow-up.The genotype distribution of rs2227484 of IL-22 gene was significantly different between the two groups (x2=6.128,P=0.033).The A allele frequency in the non-survival group (15.6％) was significantly higher than that in the survival group (5.6％) with statistically significance (OR=0.318,95％ CI=0.126-0.804,P=0.012).There was no significant difference in the other six SNP genotypes of IL-22 gene between the two groups (all P＞0.05).However,binary logistic regression showed that rs2227484 of IL-22 gene was not an independent risk factor for the short-term mortality in HBV-ACLF patients (adjusted OR=3.102,95％ CI:0.939-10.250,P=0.063).Conclusions The A allele and AA genotype of rs2227484 of IL-22 gene may be associated with a short-term prognosis in patients with HBV-ACLF.

Objective To study the therapeutic effects of Bioenterics Intragastric Balloon (BIB) on obesity under gastroscopy.Methods Data of 47 patients treated with Bioenterics Intragastric Balloon under gastrscopy were reviewed from July,2010 to May,2011.Results Weight loss ( mean 15.4 kg ) was successfully achieved in all the patients during 6 months.BMI decreased by 3.2-6.4 kg/m2 ( mean 4.7 kg/m2 ).There was no serious side effect with a better result for obesity according to the follow-up.Conclusion BIB is effective for obesity for noninvasiveness,stable speed of weight loss and less pain.

ObjectiveTo determined the outcome of modified trabeculecotomy (with paracentesis,mitomycin C,scleral flap adjustable suture and formation of anterior chamber at the end of the surgery)in the management of primary acute angle-closure (PAAC) with high intraocular pressure (IOP) and extremely dilated pupil. MethodsTwenty-one eyes of 21 successive cases with PAAC with high lOP(IOP ＞ 30mmHg) and large pupil (maximum vertical diameter ＞ 5 mm) were evaluated prospectively. They underwent modified trabeculecotomy between January 2005 and March 2009.The operative success was defined as IOP ≤ 20 mmHg (± medical therapy) without the necessity of further surgery for glaucoma. ResultsSuccess was achieved in all of the eyes(100％)at the postoperative first week.The mean preoperative IOP was (48.25 ± 3.14) mmHg under a mean number of 3.35 antiglaucomotous medications, but it reduced to (10.47 ± 1.15,P ＜ 0.01) mmHg without medication at the first week, (13.86 ± 0.93,P ＜ 0.01) mmHg at postoperative 3rd month respectively.Only 1 eye needed 1 kind of antiglaucomotous eye drop from the 2nd month postoperatively. The mean vertical diameter of pupils was (5.81±0.23) mm preoperatively, (5.92 ±0.21 ) mm at the first week(P ＞ 0.05). No case received section iridectomy. No serious complication was observed.ConclusionsModified trabeculectomy provides reduction of IOP and protection of pupil in cases with PAAC with high IOP and large pupil,and the procedures such as releasing aqueous humor gradually,appliance of scleral flap adjustable sutures and formation of anterior chamber at the end of the surgery can effectively reduce the risk of serious complications.

OBJECTIVE:To study the effect of dexamethasone (Dex) on expression of aquaporin-1(AQP1) in cultured human trabecular meshwork(HTM) cells METHODS:Reverse transcription combined with polymerase chain reaction(RT-PCR) was used to detect the expression of AQP1 in cultured HTM cells and those treated by Dex RESULTS:The mRNA of AQP1 expressed in normal HTM cells was 1 643?0 354,while 1 577?0 405,1 117?0 443,0 458?0 301,0 267?0 243 in those treated with Dex for 3 days in concentrations of 10-8mol,5?10-8 mol,10-7 mol,5?10-7mol As the concentrations of Dex increased to≥5?10-8mol,the expression of AQP1 was inhibited(P

Objective To evaluate the clinical effect of non-penetrating trabecular surgery (NPIS) without subscleral implantation in primary open-angle glaucoma (POAG) Methods Twenty eyes of 16 patients with POAG were underwent NPTS The procedure involved excising a deep-scler- sclera tissue that flush with innerwall of Schlemm's canal without opening the anterior chamber. The postoperative intraocular pressure (IOP), inflammation and filtering bleb were analysised. All of patients were undertaken ultrasound biomicroscopy (UBM ) to evaluate the surgery site on postoperative 2 weeks and 3 months. Mean follow-up was (4. Z? 2. 4) months. Results The IOP decreased from preoperative average value of (3.78? 1. 11 ) kPa, to postoperative average value of (2. 08? 0. 51 ) kPa (P