1.Auxiliary diagnostic value of IMA and CK index in acute ischemic stroke
Yuping FU ; Feng FU ; Ya ZHU ; Zhenshuai LIAN ; Sha YAN ; Dandan LI ; Zhi'an HE
International Journal of Laboratory Medicine 2024;45(22):2716-2720
Objective To evaluate the diagnostic value of ischemia-modified albumin(IMA)and the crea-tine kinase(CK)index in acute ischemic stroke(AIS).Methods According to the inclusion and exclusion cri-teria,totally 149 newly diagnosed and untreated AIS patients hospitalized in Henan Provincial People's Hospi-tal from October 2021 to October 2022 were selected as the AIS group.Additionally,156 healthy people who underwent the physical examination during the same period were selected as the control group.Activity levels of IMA,CK,creatine kinase-MB(CK-MB),lactate dehydrogenase(LDH)and hydroxybutyrate-dehydrogen-ase(HBDH)were measured using the Abbott C1600 biochemical analyzer,and the CK index(ratio of CK-MB to CK)was calculated.Relative risk factors were analyzed,receiver operating characteristics(ROC)curve was constructed,data were analyzed using SPSS27.0.1,graphs were plotted using GraphPad Prism 9.4.1,and differences in area under the curve(AUC)were compared using MedCalc(version 20.0.22).Results The AIS group exhibited significantly higher levels of IMA,CK-MB,and the CK index,and significantly lower levels of CK compared to the control group(all P<0.05).Univariate logistic regression analysis revealed that both IMA and the CK index were risk factors for AIS(both P<0.001).After adjusting for gender and age in a multivariate binary logistic regression analysis,IMA emerged as an independent risk factor for AIS(OR=1.901,95%CI:1.649-2.190,P<0.001).IMA,CK-MB and CK index in the AIS group were significantly higher than those in the control group,and CK levels were significantly lower than those in the control group,and the differences were statistically significant(P<0.05).Univariate Logistic regression analysis showed that IMA and CK index were risk factors for AIS(P<0.001).After adjusting for sex and age in multivariate binary Logistic regression analysis,IMA was an independent risk factor for AIS(OR=1.901,95%CI:1.649-2.190,P<0.001).The ROC curve demonstrated that AUC,the sensitivity and the specificity of sin-gle detection for IMA were 0.922,81.2%,and 90.4%,respectively.There was no significant difference compared to combined detection using IMA+CK index or IMA+CK index+CK(all P>0.05).Conclusion IMA is an independent risk factor for AIS,which has strong diagnostic value and is worthy of clinical application.
2.A multicenter study of neonatal stroke in Shenzhen,China
Li-Xiu SHI ; Jin-Xing FENG ; Yan-Fang WEI ; Xin-Ru LU ; Yu-Xi ZHANG ; Lin-Ying YANG ; Sheng-Nan HE ; Pei-Juan CHEN ; Jing HAN ; Cheng CHEN ; Hui-Ying TU ; Zhang-Bin YU ; Jin-Jie HUANG ; Shu-Juan ZENG ; Wan-Ling CHEN ; Ying LIU ; Yan-Ping GUO ; Jiao-Yu MAO ; Xiao-Dong LI ; Qian-Shen ZHANG ; Zhi-Li XIE ; Mei-Ying HUANG ; Kun-Shan YAN ; Er-Ya YING ; Jun CHEN ; Yan-Rong WANG ; Ya-Ping LIU ; Bo SONG ; Hua-Yan LIU ; Xiao-Dong XIAO ; Hong TANG ; Yu-Na WANG ; Yin-Sha CAI ; Qi LONG ; Han-Qiang XU ; Hui-Zhan WANG ; Qian SUN ; Fang HAN ; Rui-Biao ZHANG ; Chuan-Zhong YANG ; Lei DOU ; Hui-Ju SHI ; Rui WANG ; Ping JIANG ; Shenzhen Neonatal Data Network
Chinese Journal of Contemporary Pediatrics 2024;26(5):450-455
Objective To investigate the incidence rate,clinical characteristics,and prognosis of neonatal stroke in Shenzhen,China.Methods Led by Shenzhen Children's Hospital,the Shenzhen Neonatal Data Collaboration Network organized 21 institutions to collect 36 cases of neonatal stroke from January 2020 to December 2022.The incidence,clinical characteristics,treatment,and prognosis of neonatal stroke in Shenzhen were analyzed.Results The incidence rate of neonatal stroke in 21 hospitals from 2020 to 2022 was 1/15 137,1/6 060,and 1/7 704,respectively.Ischemic stroke accounted for 75%(27/36);boys accounted for 64%(23/36).Among the 36 neonates,31(86%)had disease onset within 3 days after birth,and 19(53%)had convulsion as the initial presentation.Cerebral MRI showed that 22 neonates(61%)had left cerebral infarction and 13(36%)had basal ganglia infarction.Magnetic resonance angiography was performed for 12 neonates,among whom 9(75%)had involvement of the middle cerebral artery.Electroencephalography was performed for 29 neonates,with sharp waves in 21 neonates(72%)and seizures in 10 neonates(34%).Symptomatic/supportive treatment varied across different hospitals.Neonatal Behavioral Neurological Assessment was performed for 12 neonates(33%,12/36),with a mean score of(32±4)points.The prognosis of 27 neonates was followed up to around 12 months of age,with 44%(12/27)of the neonates having a good prognosis.Conclusions Ischemic stroke is the main type of neonatal stroke,often with convulsions as the initial presentation,involvement of the middle cerebral artery,sharp waves on electroencephalography,and a relatively low neurodevelopment score.Symptomatic/supportive treatment is the main treatment method,and some neonates tend to have a poor prognosis.
3.Clinical Value of Translocator Protein Gene in Evaluating the Efficacy of FLT3-ITD/DNMT3A R882 Double-Mutated Acute Myeloid Leukemia.
Shan-Hao TANG ; Ying LU ; Pi-Sheng ZHANG ; Dong CHEN ; Xu-Hui LIU ; Xiao-Hong DU ; Jun-Jie CAO ; Shuang-Yue LI ; Ke-Ya SHA ; Lie-Guang CHEN ; Xian-Xu ZHUANG ; Pei-Pei YE ; Li LIN ; Ren-Zhi PEI
Journal of Experimental Hematology 2023;31(1):45-49
OBJECTIVE:
To observe the clinical significance of translocator proteins (TSPO) gene in the treatment of FLT3-ITD/DNMT3A R882 double-mutated acute myeloid leukemia (AML).
METHODS:
Seventy-six patients with AML hospitalized in the Department of Hematology of the Affiliated People's Hospital of Ningbo University from June 2018 to June 2020 were selected, including 34 patients with FLT3-ITD mutation, 27 patients with DNMT3A R882 mutation, 15 patients with FLT3-ITD/DNMT3A R882 double mutation, as well as 19 patients with immune thrombocytopenia (ITP) hospitalized during the same period as control group. RNA was routinely extracted from 3 ml bone marrow retained during bone puncture, and TSPO gene expression was detected by transcriptome sequencing (using 2-deltadeltaCt calculation).
RESULTS:
The expression of TSPO gene in FLT3-ITD group and DNMT3A R882 group at first diagnosis was 2.02±1.04 and 1.85±0.76, respectively, which were both higher than 1.00±0.06 in control group, but the differences were not statistically significant (P=0.671, P=0.821). The expression of TSPO gene in the FLT3-ITD/DNMT3A R882 group was 3.98±1.07, wich was significantly higher than that in the FLT3-ITD group and DNMT3A R882 group, the differences were statistically significant (P=0.032, P=0.021). The expression of TSPO gene in patients who achieved complete response after chemotherapy in the FLT3-ITD/DNMT3A R882 group was 1.19±0.87, which was significantly lower than that at first diagnosis, and the difference was statistically significant (P=0.011).
CONCLUSION
TSPO gene may be used as an indicator of efficacy in FLT3-ITD /DNMT3A R882 double-mutated AML.
Humans
;
DNA (Cytosine-5-)-Methyltransferases/genetics*
;
DNA Methyltransferase 3A
;
Mutation
;
Leukemia, Myeloid, Acute/drug therapy*
;
Nucleophosmin
;
Prognosis
;
fms-Like Tyrosine Kinase 3/genetics*
;
Receptors, GABA/therapeutic use*
4.Incidence and related factors of antiviral drug resistance in HIV-infected pregnant and postpartum women in some areas of three western provinces of China from 2017 to 2019.
He SUN ; Ai Ling WANG ; Jun YAO ; Jia Rui ZHENG ; Qing Hua QIN ; Wu Li SHA ; Xiao Yan WANG ; Ya GAO ; Zhen LI ; Dong Xu HUANG ; Qian WANG
Chinese Journal of Preventive Medicine 2023;57(11):1788-1793
Objective: To analyze the incidence and related factors of drug resistance in HIV-infected pregnant and postpartum women in some areas of three western provinces of China from 2017 to 2019. Methods: From April 2017 to April 2019, face-to-face questionnaires and blood sample testing were conducted in all health care institutions providing maternal and perinatal care and midwifery-assisted services in 7 prevention of mother-to-child transmissi project areas in Xinjiang, Yunnan and Guangxi provinces/autonomous regions. Information was collected during the perinatal period and viral load, CD4+T lymphocytes and drug resistance genes were detected at the same time. The multivariate logistic regression model was used to analyze the relationship between different factors and drug resistance in HIV-infected pregnant and postpartum women. Results: A total of 655 HIV-infected pregnant and postpartum women were included in this study. The incidence of drug resistance was 3.4% (22/655), all of whom were cross-drug resistant. The rate of low, moderate and high drug resistance was 2.1% (14/655), 1.2% (8/655) and 0.8% (5/655), respectively. The drug resistance rate in the people who had previously used antiviral drugs was 1.9% (8/418), and the drug resistance rate in the people who had not used drugs was 5.9% (14/237). The NNRTI drug resistance accounted for 2.8% (18/655) and the NRTI drug resistance rate was 2.5% (16/655). The multivariate logistic regression model showed that the risk of HIV resistance was lower in pregnant women who had previously used antiviral drugs (OR=0.32, 95%CI: 0.11-0.76). Conclusion: Strengthening the management of antiviral drug use and focusing on pregnant and postpartum women who have not previously used antiviral drugs can help reduce the occurrence of drug-resistant mutations. Personalized antiviral therapy should be considered to achieve viral inhibition effects in clinical practice.
Female
;
Humans
;
Pregnancy
;
HIV Infections/drug therapy*
;
Incidence
;
China/epidemiology*
;
Infectious Disease Transmission, Vertical/prevention & control*
;
Postpartum Period
;
Drug Resistance, Viral/genetics*
;
Antiviral Agents/therapeutic use*
5.Incidence and related factors of antiviral drug resistance in HIV-infected pregnant and postpartum women in some areas of three western provinces of China from 2017 to 2019.
He SUN ; Ai Ling WANG ; Jun YAO ; Jia Rui ZHENG ; Qing Hua QIN ; Wu Li SHA ; Xiao Yan WANG ; Ya GAO ; Zhen LI ; Dong Xu HUANG ; Qian WANG
Chinese Journal of Preventive Medicine 2023;57(11):1788-1793
Objective: To analyze the incidence and related factors of drug resistance in HIV-infected pregnant and postpartum women in some areas of three western provinces of China from 2017 to 2019. Methods: From April 2017 to April 2019, face-to-face questionnaires and blood sample testing were conducted in all health care institutions providing maternal and perinatal care and midwifery-assisted services in 7 prevention of mother-to-child transmissi project areas in Xinjiang, Yunnan and Guangxi provinces/autonomous regions. Information was collected during the perinatal period and viral load, CD4+T lymphocytes and drug resistance genes were detected at the same time. The multivariate logistic regression model was used to analyze the relationship between different factors and drug resistance in HIV-infected pregnant and postpartum women. Results: A total of 655 HIV-infected pregnant and postpartum women were included in this study. The incidence of drug resistance was 3.4% (22/655), all of whom were cross-drug resistant. The rate of low, moderate and high drug resistance was 2.1% (14/655), 1.2% (8/655) and 0.8% (5/655), respectively. The drug resistance rate in the people who had previously used antiviral drugs was 1.9% (8/418), and the drug resistance rate in the people who had not used drugs was 5.9% (14/237). The NNRTI drug resistance accounted for 2.8% (18/655) and the NRTI drug resistance rate was 2.5% (16/655). The multivariate logistic regression model showed that the risk of HIV resistance was lower in pregnant women who had previously used antiviral drugs (OR=0.32, 95%CI: 0.11-0.76). Conclusion: Strengthening the management of antiviral drug use and focusing on pregnant and postpartum women who have not previously used antiviral drugs can help reduce the occurrence of drug-resistant mutations. Personalized antiviral therapy should be considered to achieve viral inhibition effects in clinical practice.
Female
;
Humans
;
Pregnancy
;
HIV Infections/drug therapy*
;
Incidence
;
China/epidemiology*
;
Infectious Disease Transmission, Vertical/prevention & control*
;
Postpartum Period
;
Drug Resistance, Viral/genetics*
;
Antiviral Agents/therapeutic use*
6.Soluble egg antigen of Schistosoma japonicum induces macrophage apoptosis in mice.
Guo YIN ; Xin QI ; Ya Lin LI ; Lei XU ; Sha ZHOU ; Xiao Jun CHEN ; Ji Feng ZHU ; Chuan SU
Chinese Journal of Schistosomiasis Control 2022;34(3):259-268
OBJECTIVE:
To investigate the dynamic changes of macrophage numbers and apoptosis during Schistosoma japonicum infection, and to investigate the possible mechanisms of macrophage apoptosis induced by S. japonicum soluble egg antigen (SEA).
METHODS:
C57BL/6 mice at ages of 6~8 weeks were randomly divided into 4 groups, including three experimental groups and a normal control group. Each mouse in the experimental groups was infected with (12 ± 1) cercariae of S. japonicum via the abdominal skin, and all mice in an experimental group were sacrificed 3, 5, 8 weeks post-infection, respectively, while mice in the control group were not infected with S. japonicum cercariae and sacrificed on the day of S. japonicum infection in the experimental group. Mouse liver specimens and peritoneal exudation cells were sampled in each group, and the dynamic changes of macrophage numbers and apoptosis were detected. Mouse peritoneal macrophages were isolated, purified and treated with S. japonicum SEA, PBS and ovalbumin (OVA) in vitro, and the macrophage apoptosis was detected using flow cytometry. The mRNA and protein expression of BCL-2 protein family members were determined in macrophages using real-time quantitative PCR (qP-CR) and Western blotting assays, and the activation of caspase 3 was determined using flow cytometry and Western blotting. In addition, macrophages were in vitro treated with S. japonicum SEA in presence of a caspase inhibitor, H2O2 or N-acetyl-L-cysteine, and the apoptosis of macrophages was detected using flow cytometry.
RESULTS:
The total macrophage numbers continued to increase in mouse liver [(0.873 ± 0.106) × 106, (2.737 ± 0.460) × 106 and (3.107 ± 0.367) × 106 cells, respectively; F = 81.900, P < 0.01] and peritoneal specimens [(5.282 ± 1.136) × 105, (7.500 ± 1.200) × 105 and (12.800 ± 0.800) × 105 cells, respectively; F = 55.720, P < 0.01] 3, 5 and 8 weeks post-infection with S. japonicum, and the numbers of apoptotic macrophages also continued to increase in mouse liver [(0.092 ± 0.018) × 106, (0.186 ± 0.025) × 106 and (0.173 ± 0.0270) × 106 cells; F = 57.780, P < 0.01] and peritoneal specimens [(0.335 ± 0.022) × 105, (0.771 ± 0.099) × 105 and (1.094 ± 0.051) × 105 cells; F = 49.460, P < 0.01] 3, 5 and 8 weeks post-infection with S. japonicum. The apoptotic rate of SEA-treated macrophages [(24.330 ± 0.784)%] was significantly higher than that of PBS-[(18.500 ± 1.077)%] and OVA-treated macrophages [(18.900 ± 1.350)%] (both P values < 0.01). There were no significant differences in the mRNA or protein expression of Bcl-2 [Bcl - 2 mRNA expression: (1.662 ± 0.943) vs. (1.000 ± 0.000), t = 1.215, P > 0.05; BCL protein expression: (0.068 ± 0.004) vs. (0.070 ± 0.005), t = 0.699, P > 0.05], Bax [Bax mRNA expression: (0.711 ± 0.200) vs. (1.000 ± 0.000), t = 2.507, P > 0.05; BAX protein expression: (0.089 ± 0.005) vs. (0.097 ± 0.003), t = 2.232, P > 0.05] and Bak [Bak mRNA expression: (1.255 ± 0.049) vs. (1.00 ± 0.00), t = 0.897, P > 0.05; BAK protein expression: (0.439 ± 0.048) vs. (0.571 ± 0.091), t = 2.231, P > 0.05] between in SEA- and PBS-treated macrophages. S. japonicum SEA induced macrophage apoptosis in the presence of a caspase inhibitor (F = 0.411, P > 0.05); however, SEA failed to induce macrophage apoptosis in the presence of H2O2 or NAC (F = 11.880 and 9.897, both P values < 0.05).
CONCLUSIONS
S. japonicum SEA may induce macrophage apoptosis through promoting reactive oxygen species expression during S. japonicum infections in mice.
Animals
;
Apoptosis
;
Caspases
;
Hydrogen Peroxide
;
Macrophages
;
Mice
;
Mice, Inbred C57BL
;
RNA, Messenger
;
Schistosoma japonicum
;
Schistosomiasis japonica
;
bcl-2-Associated X Protein
7.Study on mechanisms of Th17/Treg imbalance in patients with cystic echinococcosis based on miRNA expression profiles.
Di LU ; Jia Hui SONG ; Zi Jian MA ; Peng Yue ZHANG ; Lei XU ; Chuan WEI ; Ying CHEN ; Sha ZHOU ; Ji Feng ZHU ; Ya Lin LI ; Jia Qing ZHAO ; Ming Xing ZHU ; Rui ZHAO ; Hai WANG ; Xiao Jun CHEN ; Wei ZHAO ; Chuan SU
Chinese Journal of Schistosomiasis Control 2022;34(3):277-285
OBJECTIVE:
To investigate the serum microRNA (miRNA) expression and examine the impact of miRNA expression profiles on T helper type 17 (Th17)/regulatory T cells (Treg) imbalance among patients with cystic echinococcosis, so as to provide insights into the illustration of the mechanisms underlying chronic Echinococcus granulosus infections, and long-term pathogenesis.
METHODS:
Total RNA was extracted from the sera of cystic echinococcosis patients and healthy controls, and subjected to high-throughput sequencing with the Illumina sequencing platform. Known miRNAs were annotated and new miRNAs were predicted using the miRBase database and the miRDeep2 tool, and differentially expressed miRNAs were identified. The target genes of differentially expressed miRNAs were predicted using the software miRanda and TargetScan, and the intersection was selected for Gene Ontology (GO) enrichment analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis. Among the differentially expressed miRNAs with the 20 highest fold changes, miRNAs that targeted genes relating to key transcription factors RORC and FOXP3 that determine the production of Th17 and Treg cells or their important regulatory pathways (PI3K-Akt and mTOR pathways) were matched.
RESULTS:
A total of 53 differentially expressed miRNAs were screened in sera of cystic echinococcosis patients and healthy controls, including 47 up-regulated miRNAs and 6 down-regulated miRNAs. GO enrichment analysis showed that these differentially expressed miRNA were involved DNA transcription and translation, cell components, cell morphology, neurodevelopment and metabolic decomposition, and KEGG pathway analysis showed that the differentially expressed miRNA were mainly involved in MAPK, PI3K-Akt and mTOR signaling pathways. Among the differentially expressed miRNAs with the 20 highest fold changes, there were 3 miRNAs that had a potential for target regulation of RORC, and 15 miRNAs that had a potential to target the PI3K-Akt and mTOR signaling pathways.
CONCLUSIONS
Significant changes are found in serum miRNA expression profiles among patients with E. granulosus infections, and differentially expressed miRNAs may lead to Th17/Treg imbalance through targeting the key transcription factors of Th17/Treg or PI3K-Akt and mTOR pathways, which facilitates the long-term parasitism of E. granulosus in hosts and causes a chronic disease.
Echinococcosis/genetics*
;
Gene Expression Profiling
;
Humans
;
MicroRNAs/metabolism*
;
Phosphatidylinositol 3-Kinases/genetics*
;
Proto-Oncogene Proteins c-akt/genetics*
;
T-Lymphocytes, Regulatory
;
TOR Serine-Threonine Kinases/genetics*
;
Th17 Cells
;
Transcription Factors/genetics*
8.Perifosine inhibits biofilm formation of Pseudomonas aeruginosa by interacting with PqsE protein.
Peng Fei SHE ; Lan Lan XU ; Ya Qian LIU ; Ze Hao LI ; Sha Sha LIU ; Yi Min LI ; Lin Ying ZHOU ; Yong WU
Chinese Journal of Preventive Medicine 2022;56(2):192-196
To explore the biofilm inhibitory efficacy of perifosine against Pseudomonas aeruginosa (P. aeruginos) and its mechanisms. Twenty-fourwell plate was used to form biofilms at the bottom and crystal violet staining was used to determine the biofilm inhibitory effects of perifosine against P. aeruginosa, the wells without perifosine was set as control group. Glass tubes combined with crystal violet staining was used to detect the gas-liqud interface related bioiflm inhibitory effects of perifosine, the wells without perifosine was set as control group. Time-growth curved was used to detect the effects of perifosine on the bacteial planktonic cells growth of P. aeruginosa, the wells without perifosine was set as control group. The interaction model between perifosine and PqsE was assessed by molecular docking assay. The inhibitory effects of perifosine on the catalytic activity of PqsE was determined by detection the production of thiols, the wells without perifosine was set as control group. Binding affinity between perifosine and PqsE was detected by plasma surface resonance. The biofims at the bottom of the microplates and air-liquid interface were effectively inhibited by perifosine at the concentration of 4-8 μg/ml. There was no influence of perifosine on the cells growth of P. aeruginosa. The resuts of molecular docking assay indicates that perifosine could interacted with PqsE with the docking score of -10.67 kcal/mol. Perifosine could inhibit the catalytic activity of PqsE in a dose-dependent manner. The binding affinity between perifosine and PqsE was comfirmed by plasma surface resonance with KD of 6.65×10-5mol/L. Perifosine could inhibited the biofilm formation of P. aeruginosa by interacting with PqsE.
Anti-Bacterial Agents/pharmacology*
;
Bacterial Proteins/metabolism*
;
Biofilms
;
Molecular Docking Simulation
;
Phosphorylcholine/analogs & derivatives*
;
Pseudomonas aeruginosa/metabolism*
;
Quorum Sensing
9.Distribution and risk factors of self-reported cancer cases in adults in China, 2015.
Feng Die HE ; Ya Nan HU ; Qiu Tong WANG ; Yu Ting SHA ; Dan WANG ; Li Min WANG ; Bao Hua WANG
Chinese Journal of Epidemiology 2022;43(1):22-31
Objective: To analyze the prevalence and risk factors of self-reported cancer in adults in China in 2015. Methods: The data used in this study were from China Chronic Disease and Risk Factors Surveillance in 2015. The frequency and proportion of the classified variables were analyzed by descriptive statistics, the disordered classified variables were compared by χ2 test, and the possible risk factors of cancer patients were screened by univariate and multivariate logistic regression analyses. Results: In 2015, there were 1 809 self-reported tumors patients in China, including 689 males (0.63%), 1 120 females (1.03%), 769 (0.71%) in the eastern region, 465 (0.43%) in the central region and 575 (0.53%) in the western region. The patients were mainly distributed in people aged 45- and 55- years old, being overweight or obese, living in eastern urban area, having low education level, being married, having low annual household income and being occupational population. The results of multivariate logistic regression showed that compared with the western region, the prevalence rate of cancer was higher in the eastern region (OR=1.05, 95%CI: 1.04-1.06), while lower in the central region (OR=0.94, 95%CI: 0.93-0.95); the risk for cancer in people with family history of malignancy was higher than that in people without family history of malignancy (OR=1.95, 95%CI:1.94-1.96) the risk for cancer in people with an annual household income of less than 10 000 yuan or between 10 000 and 50 000 yuan was higher than that in people with an annual household income of more than 50 000 yuan (<10 000 yuan: OR=1.59, 95%CI: 1.58-1.60; between 10 000 and 50 000 yuan: OR=1.27, 95%CI: 1.26-1.28); and the risk for cancer in people living urban areas was lower than that in people living in rural areas (OR=0.98, 95%CI: 0.97-0.99). In terms of personal behavior and diet, the risk for cancer in smokers was 1.25 times higher than that in non-smokers (OR=1.25, 95%CI: 1.24-1.26), and the risk for cancer in alcoholics was 1.16 times higher than that in non-alcoholics (OR=1.16, 95%CI: 1.15-1.17), the risk for cancer in people with insufficient vegetable and fruit intakes was 1.29 times and 1.03 times higher than those in people with sufficient intakes of vegetables and fruits, respectively (OR=1.29, 95%CI: 1.28-1.30;OR=1.03,95%CI: 1.02-1.04). People with low frequency of high-intensity exercise had a higher risk for cancer compared with those with high frequency of high-intensity exercise (OR=1.32, 95%CI: 1.31-1.33), the risk for cancer was higher in people with low frequency of moderate exercise than in people with high frequency of moderate exercise (OR=1.08, 95%CI: 1.07-1.09). The risk for cancer in people with sedentary time less than 2 hours was higher than that in those with sedentary time more than 2 hours (OR=1.69, 95%CI: 1.68-1.70), and the risk for cancer in people who ate moderate amount of red meat was lower than that in people who ate excessive amount of red meat (OR=0.86, 95%CI: 0.85-0.87). Conclusions: The number of female self-reported cancer was more than that in males, and the number of self-reported cancer in the eastern region was higher than that in the central and western regions. Living in eastern region, with family history of malignancy, having low annual household income, smoking, drinking, insufficient vegetable intake, insufficient fruit intake and low frequency of high-intensity exercise and low frequency of moderate intensity exercise were the main risk factors for cancer, while living in central region, living in urban area and low red meat intake were protective factors.
Adult
;
China/epidemiology*
;
Humans
;
Middle Aged
;
Neoplasms/epidemiology*
;
Risk Factors
;
Self Report
;
Vegetables
10.Biallelic mutations in spermatogenesis and centriole-associated 1 like (SPATC1L) cause acephalic spermatozoa syndrome and male infertility.
You-Zhu LI ; Na LI ; Wen-Sheng LIU ; Yan-Wei SHA ; Rong-Feng WU ; Ya-Ling TANG ; Xing-Shen ZHU ; Xiao-Li WEI ; Xiao-Ya ZHANG ; Yi-Feng WANG ; Zhong-Xian LU ; Fu-Xing ZHANG
Asian Journal of Andrology 2022;24(1):67-72
Acephalic spermatozoa syndrome is a rare type of teratozoospermia that severely impairs the reproductive ability of male patients, and genetic defects have been recognized as the main cause of acephalic spermatozoa syndrome. Spermatogenesis and centriole-associated 1 like (SPATC1L) is indispensable for maintaining the integrity of sperm head-to-tail connections in mice, but its roles in human sperm and early embryonic development remain largely unknown. Herein, we conducted whole-exome sequencing (WES) of 22 infertile men with acephalic spermatozoa syndrome. An in silico analysis of the candidate variants was conducted, and WES data analysis was performed using another cohort consisting of 34 patients with acephalic spermatozoa syndrome and 25 control subjects with proven fertility. We identified biallelic mutations in SPATC1L (c.910C>T:p.Arg304Cys and c.994G>T:p.Glu332X) from a patient whose sperm displayed complete acephalia. Both SPATC1L variants are rare and deleterious. SPATC1L is mainly expressed at the head-tail junction of elongating spermatids. Plasmids containing pathogenic variants decreased the level of SPATC1L in vitro. Moreover, none of the patient's four attempts at intracytoplasmic sperm injection (ICSI) resulted in a transplantable embryo, which suggests that SPATC1L defects might affect early embryonic development. In conclusion, this study provides the first identification of SPATC1L as a novel gene for human acephalic spermatozoa syndrome. Furthermore, WES might be applied for patients with acephalic spermatozoa syndrome who exhibit reiterative ICSI failures.
Centrioles/genetics*
;
Homozygote
;
Humans
;
Infertility, Male/genetics*
;
Male
;
Mutation
;
Spermatogenesis/genetics*
;
Spermatozoa

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