BACKGROUND: Recent studies have provided compelling evidence that exposure to brominated flame retardants (BFRs) can adversely affect human health. We aim to explore the potential impact of BFRs on adiposity and central obesity. METHODS: Data from the National Health and Nutrition Examination Surveys (NHANES) cycles conducted between 2009 and 2014 was used to study the connections between variables. After filtering, we analyzed a sample of 4,110 adults aged 20 years and above. Our goal was to examine the potential association between BFRs and consequences and investigate the part played by oxidative stress and inflammatory markers as intermediaries. To achieve this, we used advanced statistical methods such as weighted quantile sum (WQS) regression, quantile-based g-computation (QGC), and the Bayesian kernel machine regression (BKMR). RESULTS: The findings showed that among the examined chemicals, exposure to PBDE85 (weight: 41%), PBDE100 (24%), and PBB153 (23%) may be the dominant contributors to general obesity risk. Upon controlling for all variables that could impact the results, it was found that the QGC outcomes indicated a positive correlation between exposure to mixtures of brominated flame retardants and the occurrence of abdominal obesity (OR = 1.187, 95% CI: 1.056-1.334, p = 0.004). Significant contributions were made by PBDE85 (52%), PBB153 (27%), and PBDE100 (21%). Mediation analysis shows that lymphatic cells (LC) and albumin (ALB) partially mediate the link between brominated flame retardants and obesity. The results of BKMR are generally consistent with those of WQS and QGC. CONCLUSION At a population level, our research has revealed a noteworthy correlation between BFRs and obesity. However, further investigation is required through prospective cohort studies and in-depth mechanistic exploratory studies.
Humans ; Flame Retardants/adverse effects* ; Oxidative Stress/drug effects* ; Adult ; Male ; Female ; Middle Aged ; Inflammation/epidemiology* ; Obesity/chemically induced* ; Biomarkers/blood* ; Nutrition Surveys ; Mediation Analysis ; Young Adult ; United States/epidemiology* ; Environmental Exposure/adverse effects* ; Aged ; Environmental Pollutants/adverse effects* ; Halogenated Diphenyl Ethers/adverse effects*

Objective To explore the clinical efficacy of laser-assisted sclerectomy and cataract extraction combined with angle separation in the treatment of angle-closure glaucoma.Methods A total of 162 patients with angle closure glaucoma were selected as the research subjects.Eighty-one patients in the experimental group under-went laser-assisted sclerectomy and cataract extraction combined with angle separation,and another 81 patients in the control group underwent cataract extraction combined with angle separation.The therapeutic effects of two groups of patients were observed.Results The postoperative visual acuity,BCVA,angle width,and corneal endothelial cell count of the experimental group were higher than those of the control group,but the intraocular pressure,central anterior chamber depth,and corneal thickness were all lower than those in the control group.The incidence of adverse reactions in the experimental group(6.2% )was lower than that in the control group(13.6% ).During postop-erative follow-up,there was no further increase in intraocular pressure in the two groups,while the height of filtering blebs in the control group decreased significantly when compared with that in the experimental group.One month after surgery,the BCVA and corneal endothelial cell count in the experimental group were higher than those in the control group(P<0.05),and the corneal thickness was lower than that in the control group(P<0.05),but no statistical significance was found at 3 and 6 months after surgery.The astigmatism in the experimental group was better than that in the control group 3 months after surgery,but there was no statistically significant difference at 1 month and 6 months after surgery.Conclusion Laser-assisted sclerectomy and cataract extraction combined with angle separa-tion are effective and safe in the treatment of angle closure glaucoma.

Objective:Analyzing the epidemic trends and spatio-temporal distribution characteristics of condyloma acuminatum in China from 2018 to 2023.Methods:Data of condyloma acuminatum cases and incidence rate including 31 provinces (autonomous regions and municipalities) from 2018 to 2023 were collected through the National Notifiable Infectious Disease Reporting System of China Information System for Disease Control and Prevention. Incidence trend analysis was conducted using Joinpoint 4.9.1 software, and spatial autocorrelation analysis using ArcGIS 10.5 software. Spatio-temporal scanning analysis was carried out with SaTScan 10.1.2 software.Results:The incidence rate of condyloma acuminatum declined from 7.26 per 100 000 in 2018 to 7.19 per 100 000 in 2023. The average annual percent change was -0.26%, which was no statistically significant downward trend ( t=-0.26, P=0.806). A significant positive global spatial autocorrelation was observed in the county-level incidence rate across the country, with the global Moran's I ranging from 0.55 to 0.60 (all P<0.001); the Getis-Ord General test statistic Z( G) was all >1.96, indicating a high-value clustering pattern in the reported incidence rate of condyloma acuminatum. The local spatial autocorrelation analysis detected 256, 244, 246, 284, 308, and 315 hotspots each year, which were mainly located in the provinces of Zhejiang, Fujian, Guangdong, Guizhou, Yunnan and Chongqing. Spatio-temporal scanning analyses identified 76 statistically significant spatiotemporal clusters covering 25 provinces (autonomous regions and municipalities). Conclusions:From 2018 to 2023, the reported incidence rate of condyloma acuminata in China exhibited a mild decline. The distribution of hotspot areas and spatiotemporal clusters was largely consistent, primarily in the southeastern coastal and southwestern regions.

Objective:To investigate the recent epidemic trends and spatiotemporal distribution characteristics of gonorrhea in China, and to provide a reference for precise prevention and control of gonorrhea.Methods:Data on reported cases of gonorrhea in China (not including Hongkong, Macau and Taiwan regions of China) were collected from the Infectious Diseases Surveillance System of Chinese Disease Prevention and Control Information System from 2018 to 2023. The trends in reported incidence rates of gonorrhea in China were analyzed using the Joinpoint regression model. Global spatial autocorrelation analysis with the Moran's index and global G-statistic, as well as local spatial autocorrelation analysis, were employed to explore the clustering patterns and hotspot regions of gonorrhea at the county level. In the spatiotemporal scanning analysis, a Poisson distribution model was employed to identify clusters of gonorrhea cases.Results:The reported incidence rates of gonorrhea in China decreased from 9.59 per 100 000 in 2018 to 7.35 per 100 000 in 2023, with an average annual percent change of -4.9%, but this decreasing trend was not statistically significant ( P = 0.11). The reported incidence rates of gonorrhea at the county level in China exhibited a significant positive global spatial autocorrelation, with the global Moran's indices ranging from 0.39 to 0.60 (all P < 0.001) ; the Getis-Ord general G test statistic Z (G) values were all greater than 1.96, indicating a high-value clustering pattern of gonorrhea cases. The local spatial autocorrelation analysis showed that hotspot regions were predominantly distributed in southeastern coastal areas and southwestern China. A total of 70 clusters were identified through the spatiotemporal scanning analysis, and mainly located in southeastern coastal areas and southwestern China. Conclusions:In recent 6 years, the overall reported incidence rates of gonorrhea in China showed a fluctuating decline; there was a significant spatiotemporal clustering characteristic with regard to gonorrhea epidemic at the county level in China, and the hotspot regions were basically consistent with the spatiotemporal clusters, which were mainly distributed in southeastern coastal areas and southwestern China. Further investigation into the causes and precise prevention and control measures are needed.

Objective:To investigate the epidemic trends and spatiotemporal distribution characteristics of genital Chlamydia trachomatis infection in China in recent years, and to provide a reference for its precise prevention and control.Methods:Data on reported cases of genital Chlamydia trachomatis infection in China (not including Hongkong, Macau and Taiwan regions of China) were collected through the Infectious Diseases Surveillance System of Chinese Disease Prevention and Control Information System from 2018 to 2023. The trend in the incidence rate was analyzed using the Joinpoint 4.9.1 software. Global and local spatial autocorrelation analyses at the county level were conducted using the ArcGIS 10.5 software. Spatiotemporal scanning analysis was carried out with the SaTScan 10.1.2 software.Results:The reported incidence rates of genital Chlamydia trachomatis infection slightly declined from 12.66 per 100 000 in 2018 to 12.45 per 100 000 in 2023, with an average annual percent change of -1.42%, which was not statistically significant ( t = -1.14, P = 0.318). The reported incidence rates of genital Chlamydia trachomatis infection at the county level in China showed a significant positive global spatial autocorrelation, with the global Moran's indices ranging from 0.68 to 0.74 (all P < 0.001) ; the standardized statistic Z (G) values for the Getis-Ord general G were all greater than 1.96, indicating a high-value clustering pattern. Local spatial autocorrelation analysis revealed that hotspot areas were predominantly located in southern and eastern China. In the spatiotemporal scanning analysis, 38 statistically significant spatiotemporal clusters were identified, mainly distributed in southern and eastern China and consistent with the hotspot areas. Conclusions:From 2018 to 2023, the reported incidence rates of genital Chlamydia trachomatis infection showed a slight decline, and the epidemic exhibited spatiotemporal clustering characteristics in China. Targeted prevention and control measures need to be implemented in hotspot areas and spatiotemporal clusters.

Objective:To investigate the epidemiological trends and spatio-temporal distribution characteristics of syphilis in China from 2010 to 2023.Methods:Data on syphilis cases reported from 31 provinces, autonomous regions or municipalities from 2010 to 2023 were collected from the Infectious Diseases Surveillance System of Chinese Disease Prevention and Control Information System. Joinpoint 5.2.0 software was used to analyze the epidemiological trends of syphilis, ArcGIS 10.5 software was used for spatial autocorrelation analysis at the county level, and SaTScan 10.2.3 software was used for space-time scan analysis.Results:The national reported incidence rates of syphilis increased from 26.86 per 100 000 in 2010 to 37.60 per 100 000 in 2023, with an average annual percent change of 1.82% (95% CI: 0.81% - 2.89%), and the upward trend in the reported incidence rates was statistically significant ( P = 0.002). There was a positive spatial autocorrelation in the reported incidence rates of syphilis at the county level in China (Moran's Ⅰ range: 0.47 - 0.60, all P < 0.001), and all of the Getis-Ord general test statistic Z (G) values were > 1.96, indicating a high-value clustering pattern in the reported incidence rates of syphilis. The local spatial autocorrelation analysis showed that the annual number of hotspot areas ranged from 180 to 294, which were mainly located in Xinjiang, Qinghai, Guizhou, Sichuan and Yunnan. A total of 92 spatio-temporal clusters were identified by space-time scan analysis, which were mainly distributed in Zhejiang, Guangxi, Guangdong and Fujian from 2010 to 2012, in Xinjiang from 2013 to 2017, and in Sichuan, Guizhou, Chongqing, etc., from 2019 to 2023. Conclusions:From 2010 to 2023, the reported incidence rates of syphilis in China exhibited a fluctuating increase on the whole, with obvious spatio-temporal clustering characteristics. The hotspot areas were basically consistent with the spatio-temporal clusters, and were mainly distributed in the northwestern, southeastern coastal and southwestern areas. Over time, the spatio-temporal clusters gradually changed from the southeast coastal and northwestern areas to the southwestern areas.

Objective:To detect and analyze the gene variation types of 64 unrelated pedigrees affected with autosomal dominant polycystic kidney disease (ADPKD), and explore the detection efficiency of multiple gene analysis techniques and variation characteristics.Methods:It was a cross-sectional study. The clinical data of 64 pedigrees with ADPKD from Nephrology Department or Genetic and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from December 2017 to August 2020 were retrospectively analyzed. The blood samples of probands and other family members were collected. Genetic analysis was carried out by next generation sequencing, and suspected mutations were verified by multiplex ligation-dependent probe amplification, or long-range PCR combined with Sanger sequencing. Prenatal diagnosis for high-risk fetuses was performed by fetal villi or amniotic fluid cells after genotyping without maternal genomic DNA contamination.Results:Among detected 64 pedigrees, 57 pedigrees (89.06%) had genetic variants in PKD1/PKD2. A total of 49 pathogenic/likely pathogenic variants in PKD1/PKD2 were identified in 51 pedigrees (79.69%), including 14 nonsense variants (28.57%), 14 frameshift variants (28.57%), 11 missense variants (22.45%), 5 splicing variants (10.20%) and 5 deletion variants (10.20%). Of these variants, 87.76% (43/49) were in PKD1 and 12.24% (6/49) were in PKD2. Totally, 14 novel variants in PKD1/ PKD2 were identified, including 7 frameshift variants, 3 splicing variants, 2 nonsense variants, 1 deletion variant and 1 missense variant, of which 11 variants were in PKD1 and 3 variants were in PKD2. Twenty high-risk fetuses from 17 pedigrees received prenatal diagnosis, in whom 6 fetuses had PKD1 variation, and other 14 fetuses had no PKD1/ PKD2-genetic variation. Conclusions:The combination of next-generation sequencing, multiplex ligation-dependent probe amplification, and long-range PCR combined with Sanger sequencing can be helpful for rapid, efficient and accurate genetic diagnosis of ADPKD pedigrees. Point mutations are the most common types in PKD1/PKD2. Fourteen novel variants in PKD1/PKD2 extend its pathogenic variant spectrum and can provide basis for genetic counseling and prenatal diagnosis of ADPKD pedigrees.

OBJECTIVE: To explore the genetic basis for a child featuring congenital insensitivity to pain (CIP). METHODS: Targeted capture and next generation sequencing (NGS) was carried out for the proband. Suspected pathogenic variants were confirmed by Sanger sequencing of the proband and his parents. RESULTS: The proband was found to harbor compound heterozygous variants of SCN9A gene, namely c.1598delA (p.N533Ifs*31) and c.295_296delCGinsAT (p.R99I), which were respectively inherited from his father and mother. Both variants were predicted to be pathogenic, and neither was reported previously. CONCLUSION The compound heterozygous variants of the SCN9A gene probably underlay the CIP in this child. Above finding has enabled genetic counseling for this family.
Channelopathies ; Child ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; NAV1.7 Voltage-Gated Sodium Channel/genetics* ; Pain Insensitivity, Congenital/genetics*

In order to investigate the effects of neuroprotective peptide SNP-9 which is derived from silk fibroin hydrolysate on the injury of the blood-brain barrier in Alzheimer′s disease (AD), Aβ25-35 was used to damage brain microvascular endothelial cells bEnd.3 to establish AD injury model and drug intervention was performed.MTT assay was used to detect the effects of SNP-9 and Aβ25-35 on cell viability.RT-qPCR was used to determine the effects of SNP-9 and Aβ25-35 on the mRNA levels of tight junctions (TJs)-related ZO-1, occludin and claudin-5.Western blot was used to detect the effects of SNP-9 and Aβ25-35 on the protein levels of TNF-α, phosphorylated NF-κB, NF-κB, IκBα and RAGE.The results showed that SNP-9 reduced bEnd.3 cell damage induced by Aβ25-35, and improved the abnormal mRNA levels of ZO-1, occludin and claudin-5 in model cells.It alleviated the abnormal protein levels of TNF-α, phosphorylated NF-κB, IκBα and RAGE induced by Aβ25-35. These results suggest that SNP-9 may regulate the levels of TNF-α in model cells by influencing RAGE/NF-κB pathway, and then ameliorate TJs-related abnormalities and alleviate bEnd.3 cell injury induced by Aβ25-35.

Objective:To investigate the molecular genetic etiology of two fetuses with short rib-polydactyly syndrome type Ⅲ (SRPS Ⅲ).Methods:Next-generation sequencing (NGS) was used to detect 226 known genes related to inherited skeletal dysplasia in two fetuses with SRPS Ⅲ diagnosed in the First Affiliated Hospital of Zhengzhou University in August 2015 and June 2020. Suspect pathological variants were verified in the pedigree members using Sanger sequencing. The prenatal genetic diagnosis of the high-risk fetus in pedigree one was conducted to identify the confirmed pathogenic variation.Results:The homozygous mutation of DYNC2H1 gene c.5881A>G(p.Lys1961Glu) was identified in the proband in pedigree one, and the parents were the carriers. The proband in pedigree two carried compound heterozygous mutations in the DYNC2H1 gene with c.10606C>T(p.Arg3536*) inherited from the father and c.8954T>G(p.Val2985Gly) from the mother. Autosomal recessive inheritance was confirmed in both pedigrees. Mutations of c.5881A>G(p.Lys1961Glu) and c.8954T>G(p.Val2985Gly) in the DYNC2H1 gene were likely pathogenic variants and had not been reported before. The prenatal diagnosis did not identify the DYNC2H1 gene c.5881A>G(p.Lys1961Glu) mutation in the fetus (Ⅱ-7) in pedigree one, which was confirmed by the umbilical cord blood sample after birth. Conclusion:DYNC2H1 gene mutation underlies the fetal skeletal dysplasia in the two pedigrees.