Spatial-temporal analysis of hepatitis E in Hainan Province, China (2013-2022): insights from four major hospitals.

Objective: Exploring the Incidence, Epidemic Trends, and Spatial Distribution Characteristics of Sporadic Hepatitis E in Hainan Province from 2013 to 2022 through four major tertiary hospitals in the Province. Methods: We collected data on confirmed cases of hepatitis E in Hainan residents admitted to the four major tertiary hospitals in Haikou City from January 2013 to December 2022. We used SPSS software to analyze the correlation between incidence rate and economy, population density and geographical location, and origin software to draw a scatter chart and SAS 9.4 software to conduct a descriptive analysis of the time trend. The distribution was analyzed using ArcMap 10.8 software (spatial autocorrelation analysis, hotspot identification, concentration, and dispersion trend analysis). SAS software was used to build an autoregressive integrated moving average model (ARIMA) to predict the monthly number of cases in 2023 and 2024. Results: From 2013 to 2022, 1,922 patients with sporadic hepatitis E were treated in the four hospitals of Hainan Province. The highest proportion of patients (n = 555, 28.88%) were aged 50-59 years. The annual incidence of hepatitis E increased from 2013 to 2019, with a slight decrease in 2020 and 2021 and an increase in 2022. The highest number of cases was reported in Haikou, followed by Dongfang and Danzhou. We found that there was a correlation between the economy, population density, latitude, and the number of cases, with the correlation coefficient |r| value fluctuating between 0.403 and 0.421, indicating a linear correlation. At the same time, a scatter plot shows the correlation between population density and incidence from 2013 to 2022, with r2 values fluctuating between 0.5405 and 0.7116, indicating a linear correlation. Global Moran's I, calculated through spatial autocorrelation analysis, showed that each year from 2013 to 2022 all had a Moran's I value >0, indicating positive spatial autocorrelation (p < 0.01). Local Moran's I analysis revealed that from 2013 to 2022, local hotspots were mainly concentrated in the northern part of Hainan Province, with Haikou, Wenchang, Ding'an, and Chengmai being frequent hotspot regions, whereas Baoting, Qiongzhong, and Ledong were frequent cold-spot regions. Concentration and dispersion analysis indicated a clear directional pattern in the average density distribution, moving from northeast to southwest. Time-series forecast modeling showed that the forecast number of newly reported cases per month remained relatively stable in 2023 and 2024, fluctuating between 17 and 19. Conclusion: The overall incidence of hepatitis E in Hainan Province remains relatively stable. The incidence of hepatitis E in Hainan Province increased from 2013 to 2019, with a higher clustering of cases in the northeast region and a gradual spread toward the southwest over time. The ARIMA model predicted a relatively stable number of new cases each month in 2023 and 2024.

Aberrant Splicing of COL4A5 Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series.

Introduction: X-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 which lead to abnormalities of the glomerular basement membrane (GBM) structural and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities. The aim of this study was to identify gene mutations in a Chinese family with XLAS by whole-exome sequencing (WES) and verified the pathogenicity of the mutation in vitro experiments. Case Presentation: A five-generation pedigree with a total of 49 family members originating from Hainan province of China was investigated in this study. The proband was a 23-year-old male who developed microscopic hematuria, proteinuria and end-stage kidney disease (ESKD) at age 17. WES identified a novel splicing mutation c.321+5G>A of COL4A5, which cause exon skip. Further co-segregation analysis confirmed that this mutation exists in relatives who had renal abnormalities using Sanger sequencing. According to American College of Medical Genetics and Genomics guidelines (ACMG), the mutation was determined to be of uncertain significance (VUS). In vitro splicing experiments have shown that the COL4A5 variant induces aberrant mRNA splicing and transcript deletion. Conclusion: We identified a novel intronic COL4A5 pathogenic mutation (c.321+5G>A) in a Chinese XLAS family and described the phenotypes of affected relatives. This study expands the mutation spectrum of COL4A5 gene in XLAS and demonstrates the importance of gene screening for AS.

Association of hTERT Gene Polymorphism and Colorectal Cancer (CRC) Risk in the Chinese Han Population.

The catalytic subunit telomerase reverse transcriptase (hTERT) is a prerequisite for malignant transformation of human cells. Colorectal cancer (CRC) is a common malignant tumor. The genetic association of hTERT gene rs2853669 and rs2736098 polymorphisms with CRC was surveyed in the Chinese population. Two hundreds patients with CRC and 200 healthy controls were taken for blood sample collection. Sanger sequencing was applied for genotyping. Multiple logistic regression analysis was performed, and odds ratio (OR) together with confidence interval (CI) were calculated to obtain the corresponding association power. Among CRC cases (49.50%), hTERT gene rs2736098 GA genotype carriers were more prevalent compared with the control group (41.00%, P = 0.035), which increased the risk of CRC by 1.576 times (95% CI, 1.031-2.409). Distribution of the rs2736098 genotypes was significantly associated with TNM stage, tumor differentiation, tumor size and lymph node metastasis (P < 0.05). The frequencies of hTERT gene rs2853669 polymorphism were not significantly different between CRC patients and healthy controls. Logistic regression analysis indicated that both body mass index (BMI) and hTERT gene rs2736098 polymorphism remained significantly correlated with CRC susceptibility. The frequencies of hTERT gene rs2853669 polymorphism did not differ significantly between CRC patients and control group (P > 0.05). The hTERT gene rs2736098 polymorphism was correlated with CRC risk in the Chinese Han population, and the GA genotype was a risk element for the onset of CRC.

Distinguishing infectivity in patients with pulmonary tuberculosis using deep learning.

Introduction: This study aimed to develop and assess a deep-learning model based on CT images for distinguishing infectivity in patients with pulmonary tuberculosis (PTB). Methods: We labeled all 925 patients from four centers with weak and strong infectivity based on multiple sputum smears within a month for our deep-learning model named TBINet's training. We compared TBINet's performance in identifying infectious patients to that of the conventional 3D ResNet model. For model explainability, we used gradient-weighted class activation mapping (Grad-CAM) technology to identify the site of lesion activation in the CT images. Results: The TBINet model demonstrated superior performance with an area under the curve (AUC) of 0.819 and 0.753 on the validation and external test sets, respectively, compared to existing deep learning methods. Furthermore, using Grad-CAM, we observed that CT images with higher levels of consolidation, voids, upper lobe involvement, and enlarged lymph nodes were more likely to come from patients with highly infectious forms of PTB. Conclusion: Our study proves the feasibility of using CT images to identify the infectivity of PTB patients based on the deep learning method.

Short-term effects of high-resolution (1-km) ambient PM2.5 and PM10 on hospital admission for pulmonary tuberculosis: a case-crossover study in Hainan, China.

Introduction: There is limited evidence regarding particulate matter (PM)'s short-term effects on pulmonary tuberculosis (PTB) hospital admission. Our study aimed to determine the short-term associations of the exposure to ambient PM with aerodynamic diameters <2.5 µm (PM2.5) and < 10 µm (PM10) with hospital admission for PTB in Hainan, a tropical province in China. Methods: We collected individual data on patients hospitalized with PTB, PM2.5, PM10, and meteorological data from 2016 to 2019 in Hainan Province, China. Conditional logistic regression models with a time-stratified case-crossover design were used to assess the short-term effects of PM2.5 and PM10 on hospital admission for PTB at a spatial resolution of 1 km × 1 km. Stratified analyses were performed according to age at admission, sex, marital status, administrative division, and season of admission. Results: Each interquartile range (IQR) increases in the concentrations of PM2.5 and PM10 were associated with 1.155 (95% confidence interval [CI]: 1.041-1.282) and 1.142 (95% CI: 1.033-1.263) hospital admission risks for PTB at lag 0-8 days, respectively. The stratified analyses showed that the effects of PM2.5 and PM10 were statistically significant for patients aged ≥65 years, males, married, and those residing in prefecture-level cities. Regarding seasonal differences, the associations between PM and hospital admission for PTB were statistically significant in the warm season but not in the cold season. The effect of PM2.5 was consistently stronger than that of PM10 in most subgroups. Conclusion: Short-term exposure to PM increases the risk of hospital admission for PTB. The potential impact of PM with smaller aerodynamic diameter is more detrimental. Our findings highlight the importance of reducing ambient PM level to alleviate the burden of PTB.

Correlation between SEPS1 gene polymorphism and type 2 diabetes mellitus: A preliminary study.

BACKGROUND: The protein encoded by the selenoprotein S gene is considered to be an anti-inflammatory and antioxidant protein and is involved in a variety of diseases. Therefore, we want to study the distribution characteristics of this gene in Chinese diabetic population. METHODS: A total of 170 patients with DM (including 100 patients with T2DM and 70 patients with diabetic nephropathy [DN]) and 100 healthy controls (HC) were selected from Haikou People's Hospital (China) between January 2017 and July 2017. The polymorphisms of three SEPS1 genes (SNP ID: rs4965814, rs28665122, and rs34713741) were measured by massARRAY method, while the polymorphisms of SEPS1 genes (SNP ID: rs4965373) were detected by Sanger sequencing. RESULTS: Comparing three groups, the results were the following: (a) There was a significant difference in the genotype and allele distribution of rs34713741 between DN group and HC group and between T2DM group and DN group; For this gene locus, the risk of diabetic nephropathy in healthy individuals with T allele was 0.6 times higher than that in individuals with GG genotype (OR = 0.60, 95% CI: 0.46 ~ 0.77). (b) There was a significant difference in the distribution of rs4975814 genotype between DN group and HC group; for this gene locus, the risk of diabetic nephropathy in healthy individuals with T allele was 2.71 times higher than that in individuals with GG genotype (OR = 2.71, 95% CI: 1.66 ~ 4.45). CONCLUSION: We conclude that rs34713741 (GT + TT) may be a protective gene for DN and the rs4975814 (GT + TT) may be a susceptibility gene for DN.

Serum soluble major histocompatibility complex class I-related chain A/B expression in patients with alcoholic liver disease in Hainan Li community.

BACKGROUND/AIMS: To study the expression and clinical significance of serum soluble major histocompatibility complex class I-related chain A/B (sMICA/B), and its correlation with percentage of CD4(+), CD8(+), and NK cells, Liver fibrosis screening test, and liver enzymes in alcoholic liver disease (ALD). METHODS: Hainan Li ALD patients (n = 141) and healthy Li subjects (n = 100) were enrolled for the study. Liver enzymes were measured using automatic biochemical analyzer and Liver fibrosis screening test was used to study the correlation. In addition, sMICA/B expression in serum and percentage of CD4(+), CD8(+), and NK cells were determined using ELISA and flow cytometry respectively. RESULTS: Liver fibrosis screening test results and liver enzymes concentration were significantly higher (both P < 0.01), whereas the expression of sMICA and sMICB was significantly indifferent (P > 0.01) between ALD patients and healthy controls. However, percentage of CD4(+), CD8(+), and NK cells were statistically lower in ALD patients than in healthy controls. The Kendall's tau-b correlation coefficient for sMICA and sMICB/sMICA and LV was 0.561 and 0.120 respectively (P < 0.01). Pearson correlation coefficient of sMICA with the percentage of CD4(+), CD8(+)%, and NK cells was -0.587, -0.525, and -0.232 respectively, whereas the coefficient of sMICB was -0.590, -0.554, and -0.292 respectively (P < 0.01). CONCLUSION: 1. Liver fibrosis screening test is an excellent non-invasive approach for the diagnosis of hepatic fibrosis and shows significant correlation with liver enzymes. 2. sMICA and sMICB failed to assess the degree of hepatic fibrosis. 3. Decreased percentage of CD4(+), CD8(+), and NK cells were attributed as one of the risk factors for ALD.

Quantification of anti-sperm antibody and soluble MICA/MICB levels in the serum of infertile people of the Li ethnic group in China.

OBJECTIVE: To investigate the presence of anti-sperm antibodies (AsAb) and the correlation between AsAb positivity and the expression of soluble major histocompatibility complex class I chain-related A and B (sMICA or sMICB) in the sera of infertile people of the Li nationality from Hainan, China. METHOD: A total of 136 people (68 couples) from five villages in the Wuzhishan region, Hainan province participated in this study. Among them, 31 couples were included in the fertile group and 37 couples in the infertile group. AsAb and sMICA/sMICB levels in serum were detected by ELISA. The median sMICA/sMICB levels between and among groups were compared by Mann-Whitney rank U testing and Kruskal-Wallis H testing, and the AsAb positivity rate was compared by Pearson Chi-Square testing. Correlation analysis was performed by calculating the Spearman's rho coefficient for nonparametric data. RESULTS: The serum levels for the fertile group (AsAb: 15.5 [4.0~127.0] U/ml, sMICA: 18.33 [13.30~52.40] pg/ml, sMICB: 27.72 [18.63~47.43] pg/ml) were not statistically different from those for the infertile group (AsAb: 18.0 [9.8~95.0] U/ml, sMICA: 20.95 [15.78~23.81] pg/ml, sMICB: 26.26 [18.06~61.38] pg/ml). However, grouping based on AsAb positivity revealed a statistically significant difference for the sMICA/sMICB levels (AsAb positive group: sMICA: 5.56 [4.30~17.23] pg/ml, sMICB: 16.13 [7.54~25.43] pg/ml; AsAb negative group: sMICA: 22.00 [18.05~66.13] pg/ml, sMICB: 36.51 [20.53~67.22] pg/ml; P < 0.01). These results suggest that AsAb is negatively associated with both sMICA (Spearman's coefficient, -0.475, P < 0.01) and sMICB (Spearman's coefficient, -0.381; P < 0.01). The analysis also shows that sMICA levels are positively associated with sMICB levels (Spearman's coefficient, 0.635; P < 0.01). CONCLUSION: AsAb can be detected in the serum of fertile and infertile Li people. However, there appears to be limited clinical value in the conventional detection of AsAb, sMICA and sMICB in serum for diagnosing infertility. People with positive AsAb expression have lower levels of sMICA/sMICB expression in serum, which may be one mechanism by which people produce AsAb.