Objective:To systemically evaluate the characteristics of cytokine levels in intraocular fluid of neovascular glaucoma (NVG).Methods:Literature on the detection of cytokine levels in NVG published before June 2022 was searched in PubMed, Embase, Web of Science, China National Knowledge Infrastructure (CNKI), Wanfang databases, and China Science and Technology Journal Database (VIP).Two investigators independently completed the literature search, inclusion, and data extraction following the inclusion and exclusion criteria.Quantitative analyses were performed using Stata 16.0 software.Study heterogeneity was assessed using the I2 test, and effects were combined using the appropriate effect model to complete the meta-analysis. Results:A total of 24 studies were screened, including 771 NVG cases and 727 age-related cataract cases (control group).The standardized mean difference ( SMD) of the combined effect value of vascular endothelial growth factor (VEGF) mass concentration in the aqueous humor between the two groups was 8.79, with a 95% confidence interval ( CI) of 6.43 to 11.14.The SMD of interleukin-6 (IL-6) between the two groups was 12.50, with a 95% CI of 9.41 to 15.58.The VEGF and IL-6 levels in aqueous humor and vitreous humor were significantly higher in NVG group than in control group (all at P<0.05).The pigment epithelium-derived factor (PEDF) level in aqueous humor was lower in NVG group than in control group ( SMD: -3.03, 95% CI: -5.50--0.55, P<0.05).The levels of IL-8 ( SMD: 3.99, 95% CI: 1.14-6.85), erythropoietin (EPO) ( SMD: 9.62, 95% CI: 0.44-18.79), placental growth factor (PIGF) ( SMD: 2.62, 95% CI: 1.38-3.86), tumor necrosis factor-α (TNF-α) ( SMD: 3.37, 95% CI: 1.87-4.87) were all significantly higher in NVG group than in control group (all at P<0.05).There was no significant difference in IL-1β level in aqueous humor between the two groups ( P>0.05). Conclusions:In NVG patients, VEGF, IL-6, IL-8, EPO, PIGF, TNF-α levels are obviously increased and PEDF level is obviously decreased.These biomarkers can be used as potential predictors or therapeutic targets for NVG.

OBJECTIVE: To explore the genetic basis for a child featuring facial dysmorphism, single palmar crease, motor and language delay, and hypoplasia of corpus callosum. METHODS: A child who had visited the Affiliated Hospital of Binzhou Medical College on March 16, 2021 was selected as the study subject. Peripheral blood samples of the child and his parents were collected, and the genomic DNA was extracted for whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: WES revealed that the child has harbored a heterozygous c.607delT (p.S203Pfs*31) variant in exon 9 of the TCF4 gene, for which both of his parents were of the wild-type. Based on guidelines from the American College of Medical Genetics and Genomics, the variant was classified as pathogenic (PVS1+PM2_Supporting+PM6). CONCLUSION The heterozygous c.607delT (p.S203Pfs*31) variant of the TCF4 gene probably underlay the Pitt-Hopkins syndrome in this child. Genetic testing has enabled the definite diagnosis.
Humans ; Child ; Exons ; Computational Biology ; Genetic Testing ; Genomics ; Mutation

Objective: To investigate the proportion of achieving the blood lipid control target and its influencing factors among residents at a high risk of atherosclerotic cardiovascular disease (ASCVD), so as to provide insights into management of blood lipid among residents at a high risk of ASCVD. Methods: Residents at a high risk of ASCVD and at ages of 35 to 70 years were sampled using a multi-stage cluster sampling method from 6 counties (districts) in Shaoxing City from May to July 2021. The residents' demographics, smoking, alcohol consumption and medical history of chronic diseases were collected using questionnaires, the height, weight, waist circumference (WC) and blood pressure were measured, and the total cholesterol (TC), triacylglycerol (TG), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C) and fasting blood glucose were detected. The proportion of blood lipids achieving the control target was analyzed, and factors affecting the proportion of blood lipids achieving the control target were identified using a multivariable logistic regression model. Results: A total of 1 695 individuals at a high risk of ASCVD were enrolled, including 940 men (55.46%) and 755 women (44.54%), with a mean age of (62.56±6.08) years. There were 285 participants that achieved the target of blood lipid control (16.81%). Multivariable logistic regression analysis identified gender (male, OR=1.962, 95%CI: 1.396-2.758), age (OR=1.037, 95%CI: 1.013-1.061), WC (OR=0.979, 95%CI: 0.964-0.995), diastolic blood pressure (OR=0.981, 95%CI: 0.967-0.994), smoking (OR=1.485, 95%CI: 1.034-2.133), alcohol consumption (OR=0.684, 95%CI: 0.498-0.941), hypertension (OR=1.428, 95%CI: 1.006-2.207), administration of hypoglycemic drugs (OR=2.326, 95%CI: 1.720-3.144) as factors affecting the achievement of the target for blood lipid control among residents at a high risk of ASCVD. Conclusions Individuals at a high risk of ASCVD with higher WC, higher diastolic blood pressure and alcohol consumption are less likely to achieve the target for blood lipid control, while male individuals with older age, hypertension and administration of hypogcemic drugs are more likely to achieve the target for blood lipid control.

Objective:To analyzes the current status of radiation protection in non-medical sectors, together with the vulnerable spots in the prevention and control of occupational radiation sickness in China in order to provides both technical basis for occupational health management in non-medical radiation sectors and the better protection of occupational health benefits for radiation workers.Methods:The monitoring plan for this survey was worked out on the part of the National Institute for Radiological Protection, China CDC. Survey and monitoring of the current status of radiation protection and occupational health management were, under the monitoring the plan, completed by the relevant agencies of all provincial-level regions for the key industries of non-medical sectors countrywide, involving occupational health monitoring, personal dose monitoring, radiation protection monitoring instruments equipped, and radiation protection monitoring in workplace. Based on the survey result , the deficiencies in radiation protection and occupational health monitoring in non-medical sectors were analyzed.Results:The survey of non-medical sectors was divided into general investigation and detailed monitoring, with the general investigations covering 9 075 non-medical institutions in 31 provincial-level regions across the country. Of them, a total of 4 911 institutions within 329 district-level regions received detailed investigation and radiation protection monitoring. As survey result , the X, γ ambient dose equivalent rates for the institutions using ray-generator are greater than 2.5 μSv/h, about 2.35% of the total, with a maximum of 817 μSv/h. The values for those using radioactive sources were greater than 2.5 μSv/h, about 9.57%, with a maximum of 1 700 μSv/h. The frequencies of personal dose monitoring and occupational health examination were 72.9% and 82.1%, respectively.Conclusions:There is still a gap in radiation protection between the current status and the national regulations and standards in non-medical sectors, so both regulation and management of radiation protection should be further strengthened.

Objective:To investigate the progress and prognosis of cervical high-grade squamous epithelial lesion (HSIL) in pregnancy and its effects on pregnancy outcome.Methods:Eighty-five pregnant women who were complicated by cervical HSIL and accepted prenatal care and delivered in Shanghai First Maternity and Infant Hospital from January 2013 to December 2017 were retrospectively recruited as case group. Another 85 pregnant women without cervical lesions were recruited as control. The progress and outcome of cervical HSIL in the case group and the association with delivery mode were analyzed. The pregnancy outcomes were compared between the two groups by two independent sample t-test, Chi-square test or Fisher's exact test. Results:In the case group, the regression rate of cervical HSIL was 29% (25/85) with 10 cases regressing to low-grade squamous epithelial lesion or atypical squamous epithelial cells of undetermined significance and 15 to chronic cervical inflammation; the persistence rate was 64%(54/85); and the progression rate was 7%(6/85). All six progressed patients gave birth to alive babies and one case progressed to invasive cervical cancer and five to HSIL with micro-invasive cervical cancer after delivery. There was no significant difference in the progression rate [7%(4/60) vs 8%(2/25)], regression rate [32%(19/60) vs 24%(6/25)] or persistence rate [62%(37/60) vs 68%(17/25)] between vaginal delivery and cesarean delivery women ( χ2=0.509, P=0.775). The incidence of premature birth of the HSIL group was higher than that of the control group [9%(8/85) vs 1%(1/85), Fisher's exact test, P=0.017], while there were no significant differences in the incidence of other complications or adverse pregnancy outcomes such as intrauterine fetal death, preterm premature rupture of membranes, low-lying placenta, amniotic fluid contamination of Ⅱ-Ⅲ degree, placental abruption, oligohydramnios and fetal distress between the two groups (all P>0.05). Conclusions:The progression rate of HSIL during pregnancy is low. Thus, a close follow-up could be conducted if invasive carcinoma is ruled out and the postpartum treatment should base on pathological results. HSIL during pregnancy could increase the risk of preterm labor, but is not an indication of cesarean section.

Objective:To evaluate the pathologic findings from biopsy samples to predict the status of nodal metastasis for patients with usual cervical adenocarcinoma.Methods:The 32-pair samples of cervical adenocarcinoma specimens (32 cervical biopsies and 32 hysterectomies with staging) from 2013 to 2019 were selected for retrospective study in Shanghai first Maternal and infant Health Care Hospital Affiliated to Tongji University. The correlation between histopathologic features including necrotic tumor debris (NTD), nuclear grade, mitotic count and pattern-based classification system and the status of lymph node metastasis was evaluated.Results:Tumor invasive patterns of cervical adenocarcinoma, as described previously, could be discerned in hysterectomy/staging specimens, but not in cervical biopsies. Because the biopsy tissues were small, only 14(14/32, 43.8%) cases could be classified according to pattern of invasion, and the concordance rate with resected specimens was 37.5%. NTD (9/19) and grade 3 nuclei (11/19) were positively correlated with invasive pattern C and nodal metastases ( P<0.05). Moreover, when NTD and (or) nuclear grade were evaluated at the same time, the sensitivity for type C infiltration was higher. Conclusions:Evaluation of NTD and nuclear grade in biopsies for cervical adenocarcinoma provides good predictive value for lymph node metastasis. It is helpful for patient stratification and management andto avoid unnecessary staging procedures. However, multicenter studies and prospective clinical trials are necessary to confirm the findings before clinical application can be considered.

Objective To explore the gene mutation characteristics and detailed clinical presentations of hyperglycemia caused by GCK mutations in 10 patients.Methods The clinical and follow-up data of 10 patients with hyperglycemia caused by mutation of GCK gene were reviewed.The patients were ascertained between January 1,2014 and August 31,2018 at the Department of Pediatrics,the First Affiliated Hospital of Zhejiang University and Ningbo Women & Children's Hospital.Clinical data were collected,including age,gender,main complaint,family history,fasting blood glucose,fasting blood insulin,2-hour blood glucose,2-hour blood insulin after oral glucose tolerance test,glycosylated hemoglobin,anti-glutamic acid decarboxylase antibody and body mass index.Mutations of GCK gene were detected by Sanger sequencing or high-throughput sequencing of diabetes-related genes in the patients and their family members.Results There were ten patients,8 of them were male,2 were female.The ages at diagnosis varied between 4.7 to 12.3 years.The patients usually did not have obvious clinical symptoms of diabetes mellitus.Most of them were unexpectedly found to have hyperglycemia and with impaired glucose metabolism in three consecutive generations.The fasting blood glucose of patients was 6.8-7.7 mmol/L,2-hour postprandial blood glucose was 7.8-11.6 mmol/L.Fasting blood insulin was 0.5-8.5 mU/L,glucose tolerance test results showed that 2 h postprondial blood insulin was 1.3-55.4 mU/L.The level of glycosylated hemoglobin was 6.1％-6.8％.Anti-glutamic acid decarboxylase antibody was negative in all patients.The GCK mutations identified in patients and one of their parents were located at exon5 (4 cases),exon9 (2 cases),exon2 (1 case),exon4 (1 case),exon6 (1 case) and exon7 (1 case).Conclusions Most of the hyperglycemia patients caused by GCK mutations did not have typical clinical symptoms of diabetes.The fasting blood glucose was slightly elevated.Abnormal glucose tolerance test results were found in all 10 patients.Three consecutive generations of family had impaired glucose metabolism.GCK mutations located at exon 5 were common in 10 cases.There was no correlation between type of mutations and plasma glucose levels in domestic and international researches.When fasting glucose was found abnormal in clinic,a complete family history should be taken and the GCK gene should be sequenced to confirm the diagnosis in time.

Objective To evaluate the feasibility of quantitative evaluation of fallopian tubes patency by the rising slope of pressure curve produced by bolus injection using a liquid diagnostic apparatus in the four-dimen-sional hysterosalpingo-contrast sonography. Methods A total of 205 patients with infertility were collected for four-dimensional hysterosalpingo-contrast sonography. In the examination,the contrast medium concentration,the liquid volume of the liquid diagnostic apparatus and the speed of the liquid were stationary calculated. The rising slope of the curve was calculated according to the real-time pressure curve produced by the contrast agent injection process. According to the hysterosalpingo-contrast sonography examination's results ,patients were divided into one side patency group,one side partial obstruction group and one side obstruction group. The correlation between the slope and the patency of the fallopian tube was analyzed by binary logistic regression. Results Binary logistic regression showed that the slope and fallopian tube patency had good correlation(all P < 0.05)between one side patency group and one side obstruction group,and also between one side partial obstruction group and one side obstruction group;but had no correlation between one side patency group and one side partial obstruction group(regression coefficient P>0.05,regression constant P=0.000). Conclusion The slope of pressure curve produced by four-dimensional hysterosalpingo-contrast sonography can be used to assess the patency of fallopian tubes quantitatively. It is a new auxiliary index for evaluating the patency of fallopian tubes.

Objective To investigate whether the excessive production of reactive oxygen species (ROS) in the mitochondria of the rostral ventrolateral medulla (RVLM) can inhibit the high salt-induced hypertension response.Methods A total off 32 male rats were divided into two groups:two groups were given normal salt diet (0.3％ NaCl) for 8 weeks (n=16) and high salt diet (8％ NaCl) for 8 weeks (n=16,induced hypertension model) respectively.The two groups were divided into four groups,two groups were given α-lipoic dissolving in 0.9％ normal saline (60 mg/kg),two groups were fed with saline for 9 weeks.There were ffour groups:the experimental group (n=8,the hypertension model sample fed α-lipoic acid),the model group (n=8,the hypertension model sample fed saline),the control group (n=8,normal salt diet sample fed α-lipoic acid) and the blank control group (n=8,normal salt diet sample ffed saline).Monitored the change of the arterial pressure and detected the expression off superoxide by immunofluorescence at the end of the experiment,measured the expression of NAD(P)H NOX2,NOX4 and Cu/Zn-SOD in RVLM by Western blot;determined the expression differences of oxidative stress related substances such as mitochondrial malondialdehyde(MDA)in RVLM by ELISA.Results The mean arterial pressure (MAP) in the experimental group was lower than that in the model group,the difference was statistically significant (P＜0.05);in the experimental group and the model group the intensities of fluorescent-labled dihydroethidium(DHE) were 60.2±3.1,99.1±3.8;the numbers of positive neurons in Cu/Zn-SOD were 20.8±1.1,6.9 ± 1.2;the numbers of NOX2 positive neurons were 12.3 ± 3.5,25.1 ±5.4;the numbers of NOX4 positive neurons were 10.1±2.2,13.3±4.1,the difference was statistically significant (P＜0.05).Western blot showed that the NOX2 levels of the experimental group and the model group were 78.9 ± 2.0,112.7 ± 3.8;the levels of NOX4 were 63.2± 2.1,99.4 ± 1.7.The levels of Cu/Zn-SOD in RVLM of the experimental group and the model group were 19.7 ±1.6,10.3± 1.2,the difference was statistically significant (P＜0.05);the levels of mitochondrial superoxide dismutase (SOD) were (33.1±3.8),(15.2±1.7)U/mg,the difference was statistically significant (P＜0.05).The levels of mitochondrial glutathione (GSH) in the experimental group and the model group were (5.2±0.9),(2.3±0.5)μmol/g;the levels of norepinephrine (NE) were (325.8 ± 7.3),(467.9 ± 6.1) pg/mL,the difference was statistically significant (P＜0.05).Conclusion α-lipoic acid could decrease the expression of NOX2,NOX4 and the bioenergy of mitochondria enzyme,and increase the intracellular antioxidant ability in the RVLM during the development of hypertension to inhibit the oxidative stress response in the development of hypertension.