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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 performed 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 variantin 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.
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84 eyes that underwent femtosecond laser-assisted laser in situ keratomileusis ( FS-LASIK) , and 110 eyes that underwent small incision lenticule extraction ( SMILE) surgery were included in this prospective case se-ries study. HOAs included ( total HOAs, spherical aberration, horizontal coma aberration, and vertical coma aber-ration) were measured preoperatively after 1 week, 1 month , and 3 months postoperatively by Pentacam. The ab-errations were described as Zernike polynomials. Significantly increased total HOAs and SA and significantly de-creased vertical coma were noted at 1 week, 1 month, and 3 months after FS-LASIK ( P<0.05 ) . However, no significant increase was found in postoperatively horizontal coma. There were significant increases in total HOAs, SA, and horizontal coma and a decrease in the vertical coma at each postoperative examination in SIMLE group ( P<0.05 ) . The total HOAs and SA were significantly smaller in SMILE group than that in FS-LASIK group at 1 week, 1 month, and 3 months postoperatively. The changes in total HOAs and SA were also significantly smaller in SMILE group than that in FS-LASIK group at each postoperative examination. Compared with FS-LASIK, SMILE can induce fewer total higher-order aberrations and spherical aberration after operation.
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Objective To investigate changes of synaptic interface structural in the hippocampus Cal in high and low conditioned place preference(CPP) rats after chronic morphine treatment.Methods The male SD rats were randomly distributed to experiment group 130 cases(intraperitoneal injected morphine twice a day for ten days in an ascending dosage schedule) and control group 30 cases(injected saline of the same volume at same time).The rats in experiment group were re-classified into high preference group(HP),middle group and low preference group(LP) according to the numerical value of the CPP.The middle group was rejected.The rats in HP and LP were scarified at the time of 3h,3d and 14d after the last injection.The hippocampus Cal were removed and prepared for electron microscope specimen.The synaptie interface structure parameter were analyzed by image processing technique.Results ①No significant difference of pretest scores staying at the non-preference chambet existed among the three groups(F=0.78,P=0.47).However,the test scores of the CPP minus the time stayed at pretest natural preference in the high group was significantly higher than that of the low group(P=0.00).②At the 3h and 3d,the PSD of the high group((15.20±-3.65)nm) was significantly lower than low group((17.63±6.61)nm,P<0.01);the synaptic cleft of high group((5.77±2.08)nm) was significantly higher than low group ((4.92±1.65)nm,P<0.05).At the 14d,the PSD of the high group((16.22±4.93)nm) was significantly lower than low group((18.42±3.78)nm,P<0.01).Conclusion In hippocampal Cal area the synaptic cleft in the HP group was higher than that of LP group,the post-synaptic density in the HP group was lower than that of LP group.These changes may be the synaptic basic of the different susceptibility.
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Objective To investigate the possible mechanism for the different CPI susceptibili-ties. Methods Using a conditioned place preference (CPP) model, rats were selected into high and low preference groups. Using in situ hybridization, we examined the mRNA expression of 5-hydroxytryptamine transporter (5-HTT) and 5 -hydroxytryptamine 1 A receptor (5-HT1 AR) in 3 cruci-al regions in addiction, namely the ventral tegmental area (VTA) , the nucleus accumbens (NAc) ,and the medial prefrontal cortex (mPFC) , during the dependence and withdrawal. Results During dependence state, the expression of 5-HTT mRNA in each of the regions in the high preference group was significantly lower than that of the low preference group, while higher expression of 5-HT1AR mRNA in each of the regions in the high preference group than that of the low preference group was found (P<0.05). During withdrawal state, the expression of 5-HTT mRNA in each of the regions in high preference group was significantly higher than that of the low preference group, while lower expres-sion of 5-HTIAR mRNA in each of the regions in the high preference group than that of the low prefe-rence group was found (P<0.05). Conclusion 5-HTT and 5-HT1 AR may play a role in diffe-rences in susceptibility to morphine.