Background Metals and metalloids in fine particulate matter (PM_2.5) may cause damage to the respiratory and circulatory systems of the human body, and long-term exposure is prone to causing chronic poisoning, cancer, and other adverse effects. Objective To assess the distribution characteristics of metals and metalloids in outdoor PM_2.5 in a southern city of China, conduct source apportionment, and evaluate the associated health risks, thereby providing theoretical support for further pollution control measures. Methods PM_2.5 samples were collected in districts A, B, and C of a southern China city, and the concentrations of 17 metals and metalloids were detected by inductively coupled plasma-mass spectrometry (ICP-MS). Pollution sources were assessed through enrichment factor and principal components analysis, and the main pollution sources were quantified using absolute principal component scores-multivariate linear regression (APCS-MLR). Health risks were evaluated based on the Technical guide for environmental health risk assessment of chemical exposure (WS/T777—2021). Results The ambient air PM_2.5 concentrations in the city were higher in winter and spring, and lower in summer and autumn. The annual average concentrations of ambient PM_2.5 in districts A, B, and C were 36.7, 31.9, and 24.4 μg·m⁻³, respectively. The ambient PM_2.5 levels in districts B and C were below the second-grade limit set by the Ambient air quality standards (GB 3095—2012). The enrichment factors of cadmium (Cd), aluminum (Al), and antimony (Sb) were greater than 10, those of copper (Cu), lead (Pb), arsenic (As), nickel (Ni), mercury (Hg), and molybdenum (Mo) fell between 1 and 10, and those of manganese (Mn), vanadium (V), chromium (Cr), cobalt (Co), barium (Ba), beryllium (Be), and uranium (U) were below or equal to 1. The comprehensive evaluation of source analysis showed that the main pollution sources in districts A and C and the whole city were coal-burning. In district B, the main pollution source was also coal combustion, followed by industrial process sources and dust sources. The carcinogenic risks of As and Cr were between 1×10⁻⁶ and 1×10⁻⁴. However, the hazard quotients for 15 metals and metalloids in terms of non-carcinogenic risk were below 1. Conclusion Cr and As in the atmospheric PM_2.5 of the city present a certain risk of cancer and should be paid attention to. In addition, preventive control measures should be taken against relevant pollution sources such as industrial emission, dust, and coal burning.

Objective:To explore the clinical features and genetic characteristics of three patients with Infantile liver failure syndrome type 2 (ILFS2).Methods:Three children who were diagnosed with ILFS2 at the Children′s Hospital Affiliated to Zhengzhou University from February 2023 to February 2024 were selected as the study subjects. Clinical data of the children were collected. Peripheral blood samples of the children and their parents were collected and subjected to whole exome sequencing (WES). Candidate variants of the NBAS gene were verified by Sanger sequencing. This study was approved by the Ethics Committee of the Children′s Hospital Affiliated to Zhengzhou University (Ethics No. 2024-k-069). Results:The three children had presented with fever-triggered recurrent acute liver failure. All of them were found to harbor compound heterozygous variants of the NBAS gene, including c. 3596G>A and c.1181A>T in child 1, c.2617C>T and c. 2T>C in child 2, and c. 3596G>A and c. 2817_2818insT in child 3. Among these, the c. 1181A>T and c. 2817_2818insT variants were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), they were respectively classified as variants of uncertain significance (PM2_Supporting+ PM3+ PP3) and pathogenic (PVS1+ PM2_Supporting+ PM3). Conclusion:Combined with the patient′s clinical phenotype, the compound heterozygous variants of the NBAS gene probably underlay the pathogenesis of ILFS2 in the three children. For children with fever-related acute liver failure of unknown causes, the possibility of this disease should be suspected, and genetic testing may facilitate the diagnosis. Early diagnosis and timely intervention can significantly improve the prognosis. Discoveries of the c. 1181A>T and c. 2817_2818insT variants have enriched the mutational spectrum of the NBAS gene.

OBJECTIVE: To explore the clinical features and genetic characteristics of three patients with Infantile liver failure syndrome type 2 (ILFS2). METHODS: Three children who were diagnosed with ILFS2 at the Children's Hospital Affiliated to Zhengzhou University from February 2023 to February 2024 were selected as the study subjects. Clinical data of the children were collected. Peripheral blood samples of the children and their parents were collected and subjected to whole exome sequencing (WES). Candidate variants of the NBAS gene were verified by Sanger sequencing. This study was approved by the Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2024-k-069). RESULTS: The three children had presented with fever-triggered recurrent acute liver failure. All of them were found to harbor compound heterozygous variants of the NBAS gene, including c.3596G>A and c.1181A>T in child 1, c.2617C>T and c.2T>C in child 2, and c.3596G>A and c.2817_2818insT in child 3. Among these, the c.1181A>T and c.2817_2818insT variants were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), they were respectively classified as variants of uncertain significance (PM2_Supporting+PM3+PP3) and pathogenic (PVS1+PM2_Supporting+PM3). CONCLUSION Combined with the patient's clinical phenotype, the compound heterozygous variants of the NBAS gene probably underlay the pathogenesis of ILFS2 in the three children. For children with fever-related acute liver failure of unknown causes, the possibility of this disease should be suspected, and genetic testing may facilitate the diagnosis. Early diagnosis and timely intervention can significantly improve the prognosis. Discoveries of the c.1181A>T and c.2817_2818insT variants have enriched the mutational spectrum of the NBAS gene.
Humans ; Exome Sequencing ; Genetic Testing/methods* ; Liver Failure, Acute/etiology* ; Mutation ; Child ; Adult ; Neoplasm Proteins

Objective:To explore mechanism of Caspase-11/GSDMD non-classical cell pyroptosis pathway in inflammatory response of RAW264.7 monocyte macrophages induced by ricin toxin.Methods:Cell pyroptosis model induced by LPS+Nigericin was used as a positive control,and cells were induced with 40 ng/ml and 80 ng/ml of ricin toxin for 8 hours.Cell release of lactate dehydro-genase(LDH)was measured by LDH cell release assay;cell viability was assessed by flow cytometry(Annexin Ⅴ/PI double staining);gene expressions of Caspase-11,GSDMD,IL-1β and IL-18 were measured by RT-qPCR;protein levels of Caspase-11 and GSDMD were measured by Western blot;secretion levels of inflammatory cytokines IL-1β and IL-18 in cell supernatant were measured by ELISA.Results:Compared with normal control group,RAW264.7 cells treated with ricin toxin showed swelling,cell membrane rupture,significantly increased LDH release(P<0.001),significantly increased pyroptosis rate(P<0.001),significantly increased expression of pyroptosis-related genes Caspase-11,GSDMD,IL-1β and IL-18(P<0.05),significantly increased protein expressions of Caspase-11 and GSDMD(P<0.05),and significantly increased secretion levels of IL-1β and IL-18 in cell supernatant(P<0.05).Results of ricin toxin treatment group were consistent with LPS+Nigericin cell pyroptosis positive control group.Conclu-sion:Ricin toxin may induce cell pyroptosis in RAW264.7 cells through Caspase-11/GSDMD non-classical pathway,thereby promoting inflammatory response.

Objective:To explore the clinical features and genetic characteristics of three patients with Infantile liver failure syndrome type 2 (ILFS2).Methods:Three children who were diagnosed with ILFS2 at the Children′s Hospital Affiliated to Zhengzhou University from February 2023 to February 2024 were selected as the study subjects. Clinical data of the children were collected. Peripheral blood samples of the children and their parents were collected and subjected to whole exome sequencing (WES). Candidate variants of the NBAS gene were verified by Sanger sequencing. This study was approved by the Ethics Committee of the Children′s Hospital Affiliated to Zhengzhou University (Ethics No. 2024-k-069). Results:The three children had presented with fever-triggered recurrent acute liver failure. All of them were found to harbor compound heterozygous variants of the NBAS gene, including c. 3596G>A and c.1181A>T in child 1, c.2617C>T and c. 2T>C in child 2, and c. 3596G>A and c. 2817_2818insT in child 3. Among these, the c. 1181A>T and c. 2817_2818insT variants were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), they were respectively classified as variants of uncertain significance (PM2_Supporting+ PM3+ PP3) and pathogenic (PVS1+ PM2_Supporting+ PM3). Conclusion:Combined with the patient′s clinical phenotype, the compound heterozygous variants of the NBAS gene probably underlay the pathogenesis of ILFS2 in the three children. For children with fever-related acute liver failure of unknown causes, the possibility of this disease should be suspected, and genetic testing may facilitate the diagnosis. Early diagnosis and timely intervention can significantly improve the prognosis. Discoveries of the c. 1181A>T and c. 2817_2818insT variants have enriched the mutational spectrum of the NBAS gene.

Objective:To explore mechanism of Caspase-11/GSDMD non-classical cell pyroptosis pathway in inflammatory response of RAW264.7 monocyte macrophages induced by ricin toxin.Methods:Cell pyroptosis model induced by LPS+Nigericin was used as a positive control,and cells were induced with 40 ng/ml and 80 ng/ml of ricin toxin for 8 hours.Cell release of lactate dehydro-genase(LDH)was measured by LDH cell release assay;cell viability was assessed by flow cytometry(Annexin Ⅴ/PI double staining);gene expressions of Caspase-11,GSDMD,IL-1β and IL-18 were measured by RT-qPCR;protein levels of Caspase-11 and GSDMD were measured by Western blot;secretion levels of inflammatory cytokines IL-1β and IL-18 in cell supernatant were measured by ELISA.Results:Compared with normal control group,RAW264.7 cells treated with ricin toxin showed swelling,cell membrane rupture,significantly increased LDH release(P<0.001),significantly increased pyroptosis rate(P<0.001),significantly increased expression of pyroptosis-related genes Caspase-11,GSDMD,IL-1β and IL-18(P<0.05),significantly increased protein expressions of Caspase-11 and GSDMD(P<0.05),and significantly increased secretion levels of IL-1β and IL-18 in cell supernatant(P<0.05).Results of ricin toxin treatment group were consistent with LPS+Nigericin cell pyroptosis positive control group.Conclu-sion:Ricin toxin may induce cell pyroptosis in RAW264.7 cells through Caspase-11/GSDMD non-classical pathway,thereby promoting inflammatory response.

Objective:To analyze the detection of non-alcoholic fatty liver disease (NAFLD) and the multiple corresponding relationships of its risk factors in a middle-aged and young adult population undergoing health check-ups.Methods:This study was a cross-sectional study conducted on 15 423 individuals aged between 18 and 59 who underwent health check-ups at the Health Management Center of Henan Provincial Hospital of Traditional Chinese Medicine from January to December 2021. Relevant health examination data was collected, including basic information (age, gender, past medical history, smoking and alcohol consumption), physical examination, laboratory indicators such as blood lipids and blood glucose, and abdominal ultrasound results. The chi-square test was used to compare the prevalence of NAFLD among different characteristics of the population, and multiple correspondence analysis was employed for statistical analysis of related influencing factors.Results:A total of 5 859 cases of NAFLD were detected in this study, with a detection rate of 37.99%. The detection rate of NAFLD gradually increased with age ( χ2=828.841, P<0.001) and body mass index (BMI) ( χ2=1 889.809, P<0.001). The detection rates of NAFLD were higher in individuals with hypertension, diabetes, hypercholesterolemia, hypertriglyceridemia, low high-density lipoprotein cholesterolemia, high low-density lipoprotein cholesterolemia, and hyperuricemia compared to those without these conditions ( χ2 value was 1 223.673, 364.808, 444.074, 2 436.765, 1 323.736, 591.478, and 943.069, respectively, all P<0.001). Multiple correspondence analysis revealed that NAFLD was closely related to hypertension, hypertriglyceridemia, diabetes, hyperuricemia, overweight, obesity, and the age group of 45-49 years. Correspondence analysis graphs for males and females showed associations between NAFLD and hypertension, hypertriglyceridemia, hyperuricemia, overweight, and obesity. In males, NAFLD was closely related to the age group of 35-49 years, while in females, it was closely associated with the age group of 45-49 years and diabetes. Conclusions:The detection rate of non-alcoholic fatty liver disease is relatively high in middle-aged and young adult populations. Males, those who are overweight or obese, and individuals with hypertension, diabetes, hyperuricemia, or abnormal blood lipids are more susceptible to non-alcoholic fatty liver disease.

Objective To investigate the value of peripheral blood soluble interleukin-2 receptor(sIL-2R),CD4+lymphocyte percentage/CD8+lymphocyte percentage ratio(hereinafter referred to as CD4+/CD8+)and tumor necrosis factor-α(TNF-α)in evaluating the efficacy of chemotherapy in elderly patients with newly treated active pulmonary tuberculosis.Methods A total of 102 elderly patients with newly treated active tu-berculosis admitted to the hospital from December 2019 to December 2022 were enrolled in the study as the observation group,and 102 healthy people aged 60 and older who underwent physical examination in the hos-pital during the same period were enrolled as the control group.The levels of sIL-2R,TNF-α and CD4+/CD8+in peripheral blood were compared between the two groups,and the correlations between sIL-2R,TNF-α and CD4+/CD8+were analyzed.The observation group was treated with 2HRZE/4HR anti-tuberculosis treatment regimen.The levels of sIL-2R,TNF-α and CD4+/CD8+in peripheral blood of patients with different efficacy before treatment,1 month and 6 months after treatment in the observation group were compared.The correla-tion between sIL-2R,CD4+/CD8+,TNF-α levels and therapeutic effect was analyzed.The receiver operating characteristic(ROC)curve was used to analyze the efficacy of indicators in evaluating the efficacy of chemo-therapy in elderly patients.Results The levels of sIL-2R and TNF-α in the observation group were higher than those in the control group,while CD4+/CD8+was lower than that in the control group,and the differ-ences were statistically significant(P＜0.05).In the observation group,sIL-2R and TNF-α were negatively correlated with CD4+/CD8+(P＜0.05),sIL-2R was positively correlated with TNF-α(P＜0.05).After 1 month and 6 months of treatment,the levels of sIL-2R and TNF-α in patients with apparent efficacy were low-er than those in patients with efficacy,and the latter were lower than those in patients with no effect,while the CD4+/CD8+in patients with apparent efficacy was higher than that in patients with efficacy,and the latter was higher than that in patients with no efficacy,and the differences were statistically significant(P＜0.05).The levels of sIL-2R and TNF-α were negatively correlated with the efficacy(P＜0.05),and CD4+/CD8+was positively correlated with the efficacy(P＜0.05).ROC curve analysis showed that the area under the curve(AUC)of sIL-2R,CD4+/CD8+,and TNF-α used in combination to assess efficacy was significantly greater than the AUCs of the single indicators used in the assessment at each time point of treatment(P＜0.05),and the AUC of the combination of the indicators was greater after 6 months of treatment than after 1 month of treatment(P＜0.05).Conclusion The levels of sIL-2R,CD4+/CD8+and TNF-α are closely related to the ef-ficacy of chemotherapy in elderly patients with newly treated active pulmonary tuberculosis,and the combina-tion of the above indicators has certain reference value in evaluating the efficacy of chemotherapy in patients.

Based on the original data of cervical spine,the models of cervical C6 and C7 segments were reconstructed through medical image processing and reverse modeling operations,then the models were assembled to obtain the basic data of interbody fusion cage.According to the basic data,the structures of rectangular porous,gradient porous and octahedral porous interbody fusion cages were established respectively.Maximum force on the adult male neck was applied to the fusion device,and the stress,strain and maximum deformation of the fusion device were solved by finite element analysis.The elastic modulus decrease of the design,and the rectangular porosity structures with different porosity were analyzed and optimized.The results showed that the elastic modulus of the fusion cage with three structures decreased in varying degrees,and the porosity of the interbody fusion cage with rectangular structure was about 60％,which was the most decreased elastic modulus.

ObjectiveTo understand the characteristics of PM_2.5 pollution in the air of Pearl River Delta city in Guangdong Province under the COVID-19 epidemic and the health risks of inhaling elements in PM_2.5. MethodsIn 2022， 10 PM_2.5 monitoring points were set up in 10 districts in Guangzhou， Shenzhen， Foshan and Zhuhai， and air samples were collected for 7 consecutive days every month to analyze the concentration of PM_2.5 and the 12 elements in PM_2.5. The classic "four-step" method was used to evaluate the carcinogenic risk and chronic non-carcinogenic risk of the elements in air PM_2.5 on health. The age-sensitive characteristics of metal elements were combined in the carcinogenic risk assessment， and age-sensitive factors were introduced to analyze the impact of air pollution on population health. ResultsA total of818 samples were collected. and the average annual PM_2.5 concentration in the four cities of the Pearl River Delta was 30.17 （1.00-166.00， s=21.06） μg·m^-3， which was lower than the concentration limit of the secondary standard of the Ambient Air Quality Standard （GB 3095-2012）. The difference of PM_2.5 concentration in the four cities was statistically significant. The PM_2.5 concentrations in Zhuhai and Shenzhen， which were located near the sea， were lower than those in Guangzhou and Foshan. The monthly mean concentration of PM_2.5 in the four cities was the lowest at 13.70 （4.00-34.00， s=5.93） μg·m^-3 in July and the highest at 57.73 （14.00-146.00， s=27.96） μg·m^-3 in January， showing a low concentration from May to October and a high concentration from November to April of the following year. The average daily PM_2.5 concentration exceeded the secondary standard for 29 days， mainly distributed in January and November. The average annual mass concentration of elements in PM_2.5 in the four cities was Al>Mn>Pb>As>Ni>Cr>Se>Sb>Cd>Tl>Be>Hg. AS and Mn have chronic non-carcinogenic risk in population， while Cr， AS， Cd， Be and Ni have carcinogenic risk in population. ConclusionThe PM_2.5 pollution levels of the four cities in the Pearl River Delta are low and variable. Coastal cities are lower than non-coastal cities， which shows the characteristics of first decreasing and then increasing throughout the year. The order of mass concentration of metal elements of PM_2.5 in four cities is basically the same except Be and Ni. As and Mn in PM_2.5 show a certain degree of chronic non-carcinogenic risk， and As， Cr， Cd， Ni and Be have a certain degree of carcinogenic risk. The four cities need to take effective intervention measures to continue to strengthen the pollution control and health protection of Cr， As， Cd and Mn in the air， and control the health burden caused by air pollution.