Objective To carry out a molecular screening of Chinese common deafness gene mutations in Chinese pregnant women group,so as to expatiate on the content,provide molecular epidemiological data,reduce the birth rate and provide a theoretical basis to the deaf children. Methods The molecular detection was done to the pregnant women underwent normal antenatal care in our hospital,using gene chips to screen the four com?mon deaf genes(GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA)in China;then,the newborn infants carrying mutations were treated with the hearing screening,using the methods of Otoacoustic Emissions(OAE)and Brainstem Auditory Evoked Potentials(BAEP),and the husbands of mutation carrying pregnant women were adopted molecular testing of the deaf susceptibility genes in order to investigate the correlation of the rate of pregnant women carrying the mutant genes and newborn infants deafness. Results Totally 2 067 cases of pregnant women were accepted to do the molecular screening,there were 110 cases of deafness mutations detected(5.320%),in which GJB2 gene(67 cases),GJB3 gene(6 cases), SLC26A4gene(33 cases),mitochondrial 12SrRNAgene(4 cases)mutation detection rates were 3.240%,0.290%,1.600%and 0.190%,respec?tively;especially:GJB2gene 235 del C,GJB2gene 299 del AT double mutant 1 case;GJB2gene 299 del AT,GJB3gene 538 C>T double mutant 1 case;GJB2 gene 235 del C,SLC26A4 gene IVS7?2 A>G double mutant 1 case. About 108 cases children newborn accepted to do the hearing screening,in which 3 cases had problems with the left ear,3 cases with the right ear,and 4 cases with the double ears. Conclusion The use of ge?netic deafness gene chip to do the molecular diagnostics in pregnant women can be convenient,fast and efficient for prenatal diagnosis of deafness, which provides a theoretical basis and good method for reducing the birth rate of deaf children and should be popularized more widely.

Background Pentacam anterior segment analysis system (Pentacam) is more accurate in the quantitative evaluation of ocular anterior segment in primary angle-closure glaucoma (PACG) eyes than slit lamp microscope and ultrasound biomicroscope (UBM).However,its accuracy in the earlier stage of PACG before and after YAG laser peripheral iridotomy (LPI) is not fully elucidated.Objective This study was to assess the effect of YAG LPI in PACG patients with Pentacam.Methods A prospective self-controlled study was performed.Thirtyfive fellow eyes (pre-clinical stage of PACG) of acute PACG and 35 fellow eyes of chronic PACG were included in the Second Hospital of Hebei Medical University from July,2012 to December,2013.YAG LPI was performed on the eyes,and the parameters of ocular anterior segment including central anterior chamber depth (ACD),anterior chamber volume (ACV) and peripheral anterior chamber angle (ACA) were measured and compared by Pentacam before and 1 day,7 days,28 days after operation.This study was approved by the Ethic Committee of the Second Hospital of Hebei Medical University and informed consent was obtained from all subjects.Results In pre-clinical stage of PACG eyes,the postoperative ACD and ACV values were increased in comparison with preoperation,showing significant differences among various time points (ACD:F =6.783,P =0.004;ACV:F =19.090,P =0.000),and no significant difference was found in ACA among different time points (F =0.153,P =0.928).In the fellow eyes of chronic PACG,the postoperative ACD and ACV values were larger than those of preoperation,with significant differences among various time points (ACD:F =21.576,P =0.000;ACV:F =47.506,P =0.000),and no significant difference was found in ACA among different time points (F=0.581,P=0.629).The change values of ACD and ACV were (0.064±0.022) mm and (27.840±4.963) mm3 in the eyes of pre-clinical stage of PACG,and those in the fellow eyes of chronic PACG were (0.047-± 0.020) mm and (21.000 ± 3.278) mm3,showing significant differences between the two groups (ACD:t=2.783,P=0.008;ACV:t=5.749,P=0.000).Conclusions Pentacam allows easy,fast,automatic and non-contact quantification and three-dimension image of the anterior chamber parameters before and after YAG LPI in pre-clinical stage of PACG eyes and fellow eyes of chronic PACG.The ACD deepens and ACV increases after LPI in glaucomous eyes,especially in the pre-clinical stage of PACG eyes.

Objective:To analyze the incidence of uveal effusion observed in primary glaucoma and explore the relevant factors.Methods:In this case control study, 692 primary glaucoma patients in the Second Hospital of Hebei Medical University from July 2016 to July 2017 were recruited, including 256 acute primary angle-closure glaucoma (APACG) patients, 368 chronic primary angle-closure glaucoma (CPACG) patients, and 68 primary open angle glaucoma (POAG) patients.Ultrasound biomicroscopy (UBM) was performed to determine the presence of uveal effusion, and to grade the effusion.The incidence of uveal effusion and the degree of effusion were analyzed statistically.The study protocol was approved by the Ethics Committee of the Second Hospital of Hebei Medical University.Results:The incidence levels of uveal effusion in the remission stage of APACG, the pre-clinical stage of APACG, and the progress stage of CPACG were 20.45% (54/264), 3.76% (8/213) and 1.45% (8/548), respectively; the incidence of uveal effusion among the three groups was statistically significant ( χ2=105.02, P<0.05). The incidence levels of uveal effusion in the pre-clinical stage of APACG and the progress stage of CPACG were obviously lower than that in the remission stage of APACG ( χ2=29.07, χ2=91.15; both at P<0.01). In the remission stage of APACG, the initial intraocular pressure was higher, and intraocular pressure fluctuation was larger in the patients with uveal effusion than that in the patients without uveal effusion, and these differences were statistically significant ( Z=-3.626, Z=-4.022; both at P<0.05). Uveal effusion was detected in 54 eyes of the 50 APACG patients in the remission stage, including Grade 3 in 16 eyes, Grade 2 in 12 eyes, and Grade 1 in 26 eyes.Uveal effusion was demostrated in eight eyes of eight patients in the preclinical stage of APACG, and all at Grade 1.In the progress stage of CPACG, uveal effusion was also revealed in eight eyes of eight patients, all at Grade 1.In the remission stage of APACG, the degree of effusion was positively correlated with the initial intraocular pressure and the fluctuation of intraocular pressure ( r s=0.912, r s=0.923; both at P<0.01). However, the degree of effusion was inversely associated with intraocular pressure after treatment ( r s=-0.269, P<0.05). Conclusions:Uveal effusion can be observed in the remission and preclinical stages of APACG, and in the progress stage of CPACG.The remission stage of APACG shows both the highest rate and the severest degree of this complication.The degree of effusion is positively correlated with the initial intraocular pressure and the decrease in intraocular pressure, but it is inversely associated with intraocular pressure after treatment.

Perifoveal exudative vascular anomalous complex (PEVAC) are class of diseases characterized by isolated aneurysmal lesions of the perifovea with hemorrhage and hard exudates, which are found in recent years. Its pathogenesis and pathological process are not yet fully elucidated. The current consensus through multimodal imaging studies is that PEVAC is an idiopathic perifoveal retinal vascular abnormality with cystoid macular edema (CME) and hard exudate. It is not easily distinguished clinically from retinal microaneurysm due to diabetic retinopathy or retinal vein occlusion, aneurysmal telangiectasia, and type 3 macular neovascularization (stage Ⅰ). PEVAC is a partially self-healing property, and some aneurysms and CME may resolve on their own during follow-up period. Laser photocoagulation is an effective measure for the treatment of PEVAC. In the future, with the rapid development of imaging technology, the progress of research on pathogenesis and treatment strategies and the updating of theories are expected to provide more effective treatments for PEVAC.

Objective:To observe the morphological characteristics of high myopia (HM) paravalvular abnormalities (PVA), and the correlation between different manifestations of PVA and myopic traction maculopathy (MTM) was analyzed.Methods:A cross-sectional clinical study. A total of 42 middle-aged and elderly patients with HM and PVA diagnosed by ophthalmology examination in Department of Ophthalmology, The Second Hospital of Hebei Medical University from June to December 2021 were included in the study. There were 24 eyes in 16 males and 48 eyes in 26 females. Age was (56.71±8.10) years old. Diopter was (-13.05±3.10) D. Axial length (AL) was (28.22±1.04) mm. According to the characteristics of ultra-wide-angle optical coherence tomography images, PVA morphology was divided into paravascular microfolds (PM), paravascular cysts (PC) and paravascular lamellar holes (PLH). MTM was divided into T0-T5 grades, of which MTM≥T3 was defined as severe MTM. The state of vitreoretinal junction was observed and the state of posterior vitreous detachment (PVD) was recorded, which divided into complete PVD and partial PVD. Partial PVD was divided into macular fovea adhesions and paravascular adhesions according to the vitreoretinal adhesions. Posterior scleral staphyloma (PS) was divided into 6 types by ultra-wide-angle fundus photography. Logistic regression model was used to analyze the factors related to MTM.Results:In 72 eyes, PM, PC and PLH were 72 (100.0%, 72/72), 62 (86.1%, 62/72) and 29 (40.3%, 29/72) eyes, respectively. Among them, there were 10 (13.9%, 10/72) eyes with PM alone, 33 (45.8%, 33/72) eyes with PM and PC, and 29 (40.3%, 29/72) eyes with PM, PC and PLH, respectively. There were 42 eyes with partial PVD (58.3%, 42/72), among which the macular fovea and paravascular adhesion were 22 (52.4%, 22/42) and 24 (57.1%, 24/42) eyes, respectively. PS was present in 50 eyes (69.4%, 50/72), among which 27 (54.0%, 27/50), 21 (42.0%, 21/50), 1 (2.0%, 1/50), and 1 (2.0%, 1/50) eyes were types Ⅰ to Ⅳ, respectively. Multivariate logistic regression analysis showed that AL[odds ratio ( OR)=16.139, 95% confidence interval ( CI) 4.062-64.120, P<0.001], PS ( OR=4.212, 95% CI 1.234-14.378, P=0.022), paravascular vitreoretinal adhesion (OR=3.478, 95% CI 11.124, P=0.036) were risk factors for PM, PC and PLH. MTM was present in 58 eyes (80.6%, 58/72), among which T1 was the most common type in 19 eyes (26.4%, 19/72). Univariate logistic regression analysis showed that the occurrence of MTM was significantly correlated to PS ( OR=4.190, 95% CI 1.240-14.157, P=0.021), coexistence of PM, PC and PLH ( OR=11.323, 95% CI 1.389-92.311, P=0.023), and PS were significantly correlated. There was no correlation with PVD ( OR=1.889, 95% CI 0.580-6.150, P=0.291) or PS ( OR=2.778, 1.786; 95% CI 0.700-11.023; 0.445-7.167; P=0.146, 0.413). There was significant difference in the incidence of severe MTM between PM alone, PM combined with PC and coexistence of PM, PC and PLH ( χ2=20.943, P<0.001). Conclusions:PM is the most common and earliest manifestation of PVA in middle-aged and elderly HM patients. AL, PS and paravascular vitreoretinal adhesion are risk factors for PM, PC and PLH. The coexistence of three PVA forms may be a marker of severe MTM.

Objective To investigate the association of lipid accumulation product (LAP) and visceral fat index (VAI) with nonalcoholic fatty liver disease (NAFLD) and the value of LAP and VAI in predicting the risk of NAFLD. Methods A total of 708 subjects who underwent physical examination in China-Japan Friendship Hospital from September 2018 to May 2019 were enrolled and divided into NAFLD group ( n =426) and non-NAFLD group ( n =282), and the two groups were compared in terms of LAP, VAI, and related biochemical parameters. The independent samples t -test was used for comparison of normally distributed continuous data between groups, and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between groups.The chi-square test was used for comparison of categorical data between groups. The Spearman test was used for correlation analysis. The subjects were divided into L1-L4 groups based on LAP and V1-V4 groups based on VAI, and the distribution of NAFLD was compared between groups; a logistic regression analysis was used to calculate the risk of NAFLD at different levels of LAP and VAI, and the receiver operating characteristic (ROC) curves were plotted for LAP, VAI, waist circumference (WC), and body mass index (BMI) in predicting NAFLD in different sex and body weight subgroups, so as to evaluate the value of each index in the prediction and diagnosis of NAFLD. Results Compared with the non-NAFLD group, the NAFLD group had significantly higher age, proportion of male subjects, proportion of subjects with a smoking history, and levels of LAP, VAI, WC, BMI, systolic blood pressure, diastolic blood pressure, alanine aminotransferase, aspartate aminotransferase, total cholesterol, triglyceride, low-density lipoprotein cholesterol, fasting blood glucose, and serum uric acid, as well as a significantly lower level of high-density lipoprotein cholesterol (all P < 0.01). NAFLD was positively correlated with the levels of LAP and VAI (Cramer's V=0.552 and 0.464). The multivariate logistic regression analysis showed that after adjustment for related risk factors, the risk of NAFLD in the L4 group was still 8.811 (95% confidence interval [ CI ]: 4.335-17.910) times that in the L1 group ( P < 0.001), and the risk of NAFLD in the V4 group was still 5.967 (95% CI : 3.263-10.912) times than that in the V1 group ( P < 0.001). The ROC curve analysis showed that both LAP and VAI had an area under the ROC curve (AUC) of > 0.7 in predicting the onset of NAFLD in different sex and body weight subgroups; the AUCs of LAP and VAI in the female subgroup were significantly higher than those in the male subgroup (LAP: 0.886 vs 0.785, P < 0.05; VAI: 0.824 vs 0.748, P < 0.05), and the corresponding sensitivities and specificities of LAP and VAI in the female subgroup were also higher than those in the male subgroup (sensitivity: LAP: 79.8% vs 63.7%; VAI: 77.9% vs 77.0%; specificity: LAP: 85.0% vs 81.1%; VAI: 77.6% vs 62.3%). Conclusion The risk of NAFLD increases with the increase in the levels of LAP and VAI. Both LAP and VAI have a good value in predicting NAFLD in different sex and body weight subgroups, especially in predicting NAFLD in the female population.