1.Current advance in genetics and clinical phenotype of Leber congenital amaurosis
Chinese Journal of Experimental Ophthalmology 2013;31(12):1178-1182
Leber congenital amaurosis (LCA) is one of the main inherited retinal diseases causing congenital blindness.LCA is also characterized by genetic heterogeneity and variable clinical phenotypes.Recent years,a lot of molecular genetic studies related with its pathogenesis have been performed.So far,20 causative genes have been identified that account for LCA.Some correlations between genotype and clinical phenotype have also been found.Those specific clinical manifestations may help to identify the mutant gene that causes the LCA.This review summarized the causal genes,their roles in the pathogenesis of LCA,coupled with relationship between specific gene and Corresponding phenotype,which will assist the clinician in patient diagnosis and counseling.
2.Ocular manifestations of intraventricular trigonal meningioma and the associated optic radiation injury
Shu-Ran, WANG ; Yuan-Zhen, QU ; Liu, YANG ; Min, FANG
International Eye Science 2016;16(8):1511-1514
Abstract? AIM: To analyze the ocular manifestations of meningiomas in the trigone of the lateral ventricle, discuss the relevant factors of visual impairment in these patients and things need attention clinically.?METHODS:Retrospectively study on the clinical data of 90 eyes in 45 patients diagnosed of trigonal meningiomas treated at Beijing Tian Tan Hospital from October 2011 to October 2015.Preoperative examinations including visual acuity, optic disc findings, visual field, size of tumors and other change in MRI were analyzed.?RESULTS: Patients'age was 12-68 years old ( mean 41.7 ±13.7 years ). Male/female ratio was 1 ∶4.6. Decreased visual acuity occurred in 18 eyes.Optic disc edema was found in 24 eyes and optic disc pale in 6 eyes. Fourty -seven eyes had visual field defect, mostly homonymous hemianopia or defect. The maximum diameter of tumors was 2.1-9.6cm (4.8±1.7cm).Range of tumor volume was 3.02-193.2cm3(48.3±47.8cm3).A positive correlation of preoperative visual field defect was found with tumor volume, tumor maximum diameter, and brain midline shift respectively. While the preoperative visual field defect was not found any correlation with age, gender, course, and the enlargement of the ventricle and the edema of the tissue around the tumors. After Mann-Whitney U test, the differences on tumor volume, the maximum diameter of tumors, and brain midline shift between the two groups were significant.? CONCLUSION: Patients with trigonal meningiomas often have ocular signs and symptoms.The major reason of visual field defect is the damage of optic radiation around the tumor.The specific position of injured optic radiation determines the type and extent of visual field defect.Both ophthalmologist and neurosurgeon should pay attention to tumors nearby posterior visual pathway. Doing neurophthalmology examinations for these patients and realizing the position between the tumor and posterior visual pathway will be helpful and necessary in surgical planning.
3.Anti-MDA5 antibody is associated with acute/subacute interstitial pneumonia and predicts poor prognosis for interstitial lung diseases in patients with dermatomyositis
Fang CHEN ; Dongxue WANG ; Xiaoming SHU ; Nakashima RAN ; Mimori TSUNEYO ; Guochun WANG
Chinese Journal of Rheumatology 2012;16(1):13-18
ObjectiveTo determine the serum MDA5 levels and their clinical associations in patients with polymyositis/dermatomyositis (PM/DM).MethodsSerum anti-MDA5 antibody was detected by ELISA in 119 adult PM/DM patients,30 patients with systemic lupus erythematosus(SLE),30 patients with rheumatoid arthritis (RA),15 patients with primary Sj(O)gren's syndrome (SS),21 patients with pulmonary infection and 50 healthy controls.t-test,Mann-Whitney U test or chi-square test or Fisher exact test as well as Logistic multivariate regression analysis were carried out to compare the results of this study.ResultsSerum antiMDA5 antibody positive rate in DM patients(22.6%) were significantly higher compared with that of patients with PM (0,P<0.01),patients with SLE (3.3%,X2=5.68,P<0.05),RA (3.3%,X2=5.68,P<0.05),pSS (0,P<0.05) and pulmonary infection(0,P<0.05) and healthy controls (0,P<0.01).In the DM subgroup,CADM patients presented a higher positive anti-MDA5 antibody rate than classic DM patients.The incidence of arthritis,fever,vrash raised CEA and CA153 level,and serum concentration of GGT and ferritin were significantly higher in the anti-MDA5 positive DM group than anti-MDA5 negative DM group (X2=4.08,8.06,6.357,32.4,4.867; Z=-2.86,-2.44; P value of all these tests were less than 0.05 ),while the rate of serum positive ANA,serum level of CK and T,NK cell counts in the peripheral blood were much lower than those in anti-MDA5 negative DM group(X2=4.08; Z=-2.072,-2.013,-2.907; all P<0.05).Moreover,the incidence of acute/subacute interstitial pneumonia(A/SIP) was significantly higher in anti-MDA5 positive DM patients than anti-MDA5 negative DM patients.The sensitivity and specificity of anti-MDA5 antibody for diagnosing A/SIP in DM patients were 88.2% and 94% respectively.Additionally,logistic multivariate analysis showed that anti-MDA5 was an independent risk factor for death of interstitial lung diseases (ILD) in DM (OR=8.46,95%CI 1.77~40.36,P<0.01).ConclusionIn Chinese PM/DM patients,serum anti-MDA5 antibody is mainly present in DM patients and is a strong predictor for poor prognosis diagnosis of DM with A/SIP and is an independent risk factor for death of ILD in DM.
4.Postmenopausal osteoporosis in Chongqing region: a risk factors analysis
Jian WANG ; Bin WANG ; Mantian MI ; Furong SHU ; Li RAN ; Jing XU
Journal of Third Military Medical University 2003;0(21):-
Objective To investigate the risk factors of postmenopausal osteoporosis ( PMOP) in Chongqing region,and provide the theoretical basis for osteoporosis prevention and treatment. Methods A hospital-based case-control study was conducted and standardized questionnaire was applied in this project. All patients were informed of the purpose of this study and signed an informed consent form. The protocol and consent form were approved by the Ethics Committee of Third Military Medical University. Non-conditional logistic model was used to estimate the association between risk factors and PMOP. Results After adjustment for some potential confounding factors,multivariate non-conditional logistic regression analysis indicated that family history of hip fracture ( OR = 8. 567,95% CI 3. 463 to 12. 620) ,lower body mass index ( OR = 3. 081,95% CI 1. 344 to 5. 632) ,and parities ( OR = 2. 539,95% CI 1. 263 to 4. 175) were significantly positive correlated with the incidence of PMOP. However,frequently exercise ( OR = 0. 276,95% CI 0. 152 to 0. 730) ,tea drinking ( OR =0. 354,95%CI 0. 209 to 0. 764) and older at menopause ( OR =0. 621,95%CI 0. 327 to 0. 942) were significantly negative correlated with it. Conclusion Family history of hip fracture,lower body mass index and higher parities are the risk factors of PMOP in Chongqing region. Besides,frequent exercise,tea drinking and proper endogenous estrogen level are the protective factors.
5.Change of serum high sensitive C-reactive protein level in patients with pathologic myopia
Shu-ran, WANG ; Zhong-hai, WANG ; Jun-jie, YE ; Qin, LONG
Chinese Journal of Experimental Ophthalmology 2011;29(1):68-71
Background Pathologic myopia is one of the common blinding eye diseases.Recent research suggests that immune response participates in the pathogenesis of pathologic myopia,and inflammation is an important factor that influent immune status.Objective Present study was to observe the change of high sensitive C-reactive protein(hs-CRP) in serum in the patients with pathologic myopia and explore the role of inflammation in the development of pathologic myopia. Methods Serum hs-CRP was measured from 30 patients with pathologic myopia,30 patients with simple myopia and 30 normal controls with Nephelometric Turbidity in the OLYMPUS AU5400 automatic biochemical analyzer.Written informed consent was obmined from each subject before medical examination.Results The mean age was(30+10) years in pathologic myopia group,and(32+8)years in simple myopia group and(32+9)years in normal control group.The range of preoperative spherical equivalent refraction was (-6.00--22.00) D in pathologic myopia group,(-1.00--6.00) D in simple myopia group and(-1.00-+1.00) D in normal control group.The level of hs-CRP in serum was(3.68±1.15)mmol/L in the patients with pathologic myopia and was significantly higher than that of simple myopia group(1.99±0.68 mmol/L)and normal controls (2.11±O.66 mmol/L)(q=10.69,P<0.01;q=9.91,P<0.01),respectively.No significant correlation was found between hs-CRP level and myopic degrees in pathologic myopia group(R2=0.037,P>0.05). Conclusion Hs-CRP may play rule in the inflammatory reaction during the pathogenesis of pathologic myopia.
6.Synergistic interaction between melittin and chemotherapeutic agents and their possible mechanisms: an experimental research.
Rui-Ping WANG ; Shu-Ran HUANG ; Jin-Yong ZHOU ; Xi ZOU
Chinese Journal of Integrated Traditional and Western Medicine 2014;34(2):224-229
OBJECTIVETo evaluate the effect of melittin and 5-Fu, DDP, and TXT on human gastric cancer cell line BGC-823 and to primarily explore their possible mechanisms.
METHODSMedian effect analysis was employed to determine the interaction between melittin and 5-Fu, DDP, TXT by analyzing the relationship between fraction affected (FA) and the combination index (CI) acquired from the dose-effect curve. Expressions of chemotherapeutic agent-associated genes of BGC-823 cells with or without treatment were measured by real-time fluorescent quantitative PCR.
RESULTS(1) Both melittin and chemotherapeutic agents inhibited the growth of BGC-823. (2) For BGC-823 cells were acted by 5-Fu +melittin, when FA ranged between 0.35-0.75, CI was less than 1. For BGC-823 cells were acted by DDP + melittin, when FA ranged 0.55 or so, CI = 1; when Fa ranged below 0.55, CI was less than 1. For BGC-823 cells were acted by TXT + melittin, CI less than 1 could be seen in the whole interval. (3) After treatment suppressed were the expressions of chemotherapeutic agent-associated genes of BGC-823 cells such as thymidylate synthetase (TS), excision repair cross-complementing gene 1 (ERCC1), breast cancer susceptibility gene 1 (BRCA1), beta-tubulin III (TUBB3), and microtubule-associated protein tau (MAPT).
CONCLUSIONSMelittin had a synergistic effect on the cytotoxicity of chemotherapeutic agents. The possible mechanisms might be associated with down-regulating chemotherapeutic agent-associated genes.
Antineoplastic Agents ; pharmacology ; Cell Line, Tumor ; Cell Proliferation ; drug effects ; Drug Synergism ; Fluorouracil ; pharmacology ; Humans ; Melitten ; pharmacology
7.Randomized controlled study of topical administration of nonsteroidal anti-inflammatory drug for moderate or severe dry eye
Dong-hui, LI ; Qin, LONG ; Ai-ling, BIAN ; Shun-hua, ZHANG ; Shu-ran, WANG ; Ying, LI
Chinese Journal of Experimental Ophthalmology 2012;30(5):445-449
BackgroundDry eye is a multi-factorial-induced tear film and ocular surface disorder.Immunoinflammation plays a key role in the pathogenesis of dry eye.As inhibitor of the cyclo-oxygenase pathway,nonsteroidal anti-inflammatory drugs play an anti-inflammatory and anti-hypersensitivity role,and it can be a potential treatment for dry eyes.ObjectiveThis study was to investigate the effectiveness of nonsteroidal anti-inflammatory drugs (0.1%topical pranoprofen) on moderate to severe dry eyes and its mechanism.MethodsThis was a small sample of randomized controlled clinical trial.Thirty right eyes of 30 patients with moderate to severe dry eyes were included in the study according to the diagnosis criteria and randomized into two groups.The patients of the trial group received topical administration of 0.1% pranoprofen plus 0.1% sodium hyaluronate,and those of the control group received the topical 0.1% sodium hyaluronate only.Ocular surface inflammation index scores (OSDI) and ocular surface fluorescine staining (OSS) scores were measured under the slit lamp,and tear film break-up time (BUT),Schirmer Ⅰ test values were evaluated.The expression of human leucocyte antigen-DR (HLA-DR) and CD11b in conjunctiva epithelial cells were detected by impression cytology and flow cytometry (FCM).All the indexes were compared between the two groups before and after treatment.Informed consent was obtained from all patients.ResultsThere were no significant differences in terms of age and gender and their baseline values between the trial group and control group (t=0.412,P=0.684;x2=0.240,P=0.624),and so were all the indexes (P>0.05).Compared with the control group,the OSDI,OSS scores and cells positive for HLA-DR were lowered but the BUT was delayed in the trial group on day 15 ( t=2.43,P=0.03;t=2.83,P=0.01;t=3.29,P=0.00;t=3.23,P=0.00 ).No significant differences were found in the Schirmer Ⅰ test value and CD11b expression between these two groups (t=0.17,P=0.87;t=0.28,P=0.79).The OSDI,OSS scores and BUT were significantly improved,and the number of cells positive for HLA-DR were reduced 15 days after administration of drugs in comparison with before treatment in the trial group ( t =12.30,10.70,6.10,7.92,P =0.00 ).However,there were no comparable alteration seen in these indexes before and after the usage of drugs in the control group ( P>0.05).Positive correlations were found in HLADR expression with OSDI and OSS ( r =0.601,P =0.018 ; r =0.586,P =0.022 ) and a negative correlation in HLADR expression with BUT (r=-0.697,P=0.004) on day 15 in the trial group.ConclusionsTopical usage of 0.1% pranoprofen is beneficial for remitting the ocular signs and symptoms in moderate to severe dry eyes.This study illustrates that topical usage of 0.1% pranoprofen can down-regulate the expression of inflammatory markers in conjunctival epithelial cells.
8.Assessment of the damage to visual function by optical coherence tomography in patients with multiple sclerosis or neuromyelitis optica spectrum disorders
Mei-Zi, WANG ; Shu-Ran, WANG ; Li-Na, WANG ; Yang, TANG ; Kun, LEI ; Min, FANG ; Liu, YANG ; Yuan-Zhen, QU
International Eye Science 2016;16(7):1253-1257
AIM:To evaluate the optic nerve and axon impairment of relapsing - remitting multiple sclerosis ( RRMS) and neuromyelitis optica spectrum disorders ( NMOSD ) via detecting the peripapillary retinal nerve fiber layer (pRNFL) and the ganglion cell complex( GCC) thickness by optic coherence tomography(OCT).
METHODS: Retrospective case control study. Two hundred three cases were collected from August 2014 to January 2016 in Beijing Tian Tan Hospital. They were divided into four groups, including the normal group (n=60), the RRMS group ( n = 60 ), the NMOSD anti -aquaporin- 4 autoantibody seropositive( NMOSD- AQP4 -Ab seropositive) group (n= 48), and the NMOSD-AQP4-Abseronegative group (n = 35). All people were detected for the average and four quadrants ( superior, inferior, nasal, temporal) of pRNFL thickness and the average and two quadrants (superior, inferior) of GCC thickness with OCT. One way analysis of variance or nonparametric tests was used to compare the differences of pRNFL and GCC thickness between groups.
RESULTS: Comparing with the normal group, the average and all quadrants of pRNFL and GCC thickness in the RRMS, the NMOSD - AQP4 - Ab seropositive and the NMOSD-AQP4-Ab seronegative group were thinner (P<0. 01). Among them, the pRNFL and GCC thickness in the NMOSD- AQP4 - Ab seropositive group was the thinnest. Differences between groups in the pRNFL thickness:compared with the RRMS group, all quadrants of pRNFL and GCC thickness in the NMOSD-AQP4-Ab seropositive group were significantly thinner(P<0. 01); compared with the NMOSD- AQP4- Ab seronegative group, the inferior, nasal and temporal pRNFL thickness in the NMOSD-AQP4-Ab seropositive group were significantly thinner(P<0. 05), while the superior quadrant did not show significant differences( P > 0. 05); compared with the RRMS group, the superior pRNFL thickness in the NMOSD - AQP4 - Ab seronegative group was significantly thinner ( P < 0. 05), while the inferior, nasal and temporal quadrants did not show significant differences ( P > 0. 05 ). Differences between groups in the GCC thickness: compared with both the RRMS and the NMOSD- AQP4- Ab seronegative group, all quadrants of GCC thickness in the NMOSD -AQP4-Ab seropositive group were significantly thinner (P<0. 05); compared with the RRMS group, the superior GCC thickness in the NMOSD - AQP4 - Ab seronegative group was significantly thinner(P<0. 01), while the inferior quadrant did not show significant difference(P>0.05).
CONCLUSION: The optic nerve and axon impairment in NMOSD - AQP4 - Ab seropositive group was the most severe and the impairment in RRMS group was the least severe. The impairment in NMOSD - AQP4 - Ab seronegative group was between the former two, and could be more similar to that of RMMS.
10.Polysomnographic study of bruxism in children.
Xiao-ran WU ; Shu-guo ZHENG ; Li-wen WANG
Chinese Journal of Stomatology 2011;46(2):112-114
OBJECTIVETo analyze the sleep electrophysiological changes and the sleep structure changes in children with bruxism by use of the polysomnography.
METHODSTwelve children with severe bruxism and 11 children who had no systemic diseases or sleep disorders were selected for polysomnography.
RESULTSThe proportion of nonrapid eye movements sleep (NREMS)II and NREMS IV stages in bruxism group were (45.7 ± 7.1)% and (19.2 ± 4.9)%, while the control group were (52.9 ± 5.8)% and (13.3 ± 5.3)% respectively. The sleep efficiency and the latency of sleep were (84.0 ± 8.0)% and (39.33 ± 28.73) min in bruxism group, and (94.0 ± 3.7)% and (10.27 ± 7.57) min in the control group respectively. The difference was statistically significant.
CONCLUSIONSThe sleep structure is inordinate in bruxism children.
Case-Control Studies ; Child ; Child, Preschool ; Female ; Humans ; Male ; Polysomnography ; Sleep ; physiology ; Sleep Bruxism ; physiopathology ; Sleep Stages ; physiology ; Sleep, REM ; physiology