1.Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China.
Hui XI ; Qin LIU ; Dong Hua XIE ; Xu ZHOU ; Wang Lan TANG ; De Guo TANG ; Chun Yan ZENG ; Qiong WANG ; Xing Hui NIE ; Jin Ping PENG ; Xiao Ya GAO ; Hong Liang WU ; Hao Qing ZHANG ; Li QIU ; Zong Hui FENG ; Shu Yuan WANG ; Shu Xiang ZHOU ; Jun HE ; Shi Hao ZHOU ; Fa Qun ZHOU ; Jun Qing ZHENG ; Shun Yao WANG ; Shi Ping CHEN ; Zhi Fen ZHENG ; Xiao Yuan MA ; Jun Qun FANG ; Chang Biao LIANG ; Hua WANG
Biomedical and Environmental Sciences 2023;36(2):127-134
OBJECTIVE:
This study was aimed at investigating the carrier rate of, and molecular variation in, α- and β-globin gene mutations in Hunan Province.
METHODS:
We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province. Hematological screening was performed, and molecular parameters were assessed.
RESULTS:
The overall carrier rate of thalassemia was 7.1%, including 4.83% for α-thalassemia, 2.15% for β-thalassemia, and 0.12% for both α- and β-thalassemia. The highest carrier rate of thalassemia was in Yongzhou (14.57%). The most abundant genotype of α-thalassemia and β-thalassemia was -α 3.7/αα (50.23%) and β IVS-II-654/β N (28.23%), respectively. Four α-globin mutations [CD108 (ACC>AAC), CAP +29 (G>C), Hb Agrinio and Hb Cervantes] and six β-globin mutations [CAP +8 (C>T), IVS-II-848 (C>T), -56 (G>C), beta nt-77 (G>C), codon 20/21 (-TGGA) and Hb Knossos] had not previously been identified in China. Furthermore, this study provides the first report of the carrier rates of abnormal hemoglobin variants and α-globin triplication in Hunan Province, which were 0.49% and 1.99%, respectively.
CONCLUSION
Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.
Humans
;
beta-Thalassemia/genetics*
;
alpha-Thalassemia/genetics*
;
Hemoglobinopathies/genetics*
;
China/epidemiology*
;
High-Throughput Nucleotide Sequencing
2.Influence of rosuvastatin combined ticagrelor on therapeutic effect,cardiac function and inflammatory factor levels in patients with acute myocardial infarction
Cong-De YANG ; Jia-Xing LIU ; Qing-Ze ZENG ; Zhi-Wei CAI
Chinese Journal of cardiovascular Rehabilitation Medicine 2023;32(6):604-608
Objective:To investigate the influence of rosuvastatin combined ticagrelor on therapeutic effect,cardiac func-tion and inflammatory factor levels in patients with acute myocardial infarction(AMI).Methods:A total of 288 AMI pa-tients admitted in our hospital were randomly and equally divided into rosuvastatin group(received rosuvastatin therapy)and combined treatment group(received rosuvastatin combined with ticagrelor).After two-month treatment,therapeu-ticeffect,cardiac function,inflammatory index levels and incidence rate of adverse reaction were compared between two groups.Results:Total effective rate of combined treatment group was significantly higher than that of rosuvastatin group(96.53%v.s 86.81%,P=0.003).Compared with before treatment,there were significant improvements in cardiac function and inflammatory factor levels in two groups after treatment,P=0.001 al.l Compared with rosuvastatin group af-ter treatment,there were significant reductions in left ventricular end-diastolic diameter(LVEDd)[(44.86±5.25)mmv.s(30.94±4.02)mm],left ventricular end-systolic diameter(LVESd)[(28.83±3.02)mmv.s(21.27±2.86)mm],interventricular septal thickness(IVST)[(9.82±1.51)mmv.s(9.09±1.46)mm],levels of interleukin-6(IL-6)[(4.62±0.68)pg/mlv.s(3.85±0.59)pg/ml]and tumor necrosis factor-α(TNF-α)[(1.25±0.22)pg/mlv.s(0.93±0.18)pg/ml],and significant rise in 6 min walking distance(6MWD)[(398.63±50.58)m v.s(436.35±52.03)m]and LVEF[(54.11±6.32)%v.s(60.24±7.88)%]in combined treatment group,P=0.001 al.l There was no signif-icant difference in total incidence rate of adverse reactions during treatment between two groups,P=0.444.Conclusion:The combination of rosuvastatin and ticagrelor possesses significant therapeutic effect in the treatment of AMI patient.s It can improve cardiac function and reduce levels of inflammatory factors with good safety.
3.Prediction and analysis of Q-markers of Elephantopus scaber based on its UPLC fingerprint, content determination of components, and in vitro a nti-tumor activity.
Can-Chao JIA ; Ling-Jie LI ; Zhi-Hao ZENG ; Rui-Yin TANG ; De-Zheng JIA ; Min-Juan YANG ; Jin-Yan QIU ; Dong-Mei LI ; Can-Hui XIE ; Guang-Ying WU ; Yang-Xue LI ; Jie-Yi JIANG ; Hong HUANG ; Guan-Lin XIAO ; Da-Ke CAI ; Xiao-Li BI
China Journal of Chinese Materia Medica 2023;48(16):4421-4428
This study aimed to provide scientific evidence for predicting quality markers(Q-markers) of Elephantopus scaber by establishing UPLC fingerprint of E. scaber from different geographical origins and determining the content of 13 major components, as well as conducting in vitro anti-cancer activity investigation of the main components. The chromatographic column used was Waters CORTECS UPLC C_(18)(2.1 mm×150 mm, 1.6 μm), and the mobile phase consisted of acetonitrile and 0.1% formic acid solution(gradient elution). The column temperature was set at 30 ℃, and the flow rate was 0.2 mL·min~(-1). The injection volume was 1 μL, and the detection wavelength was 240 nm. The UPLC fingerprint of E. scaber was fitted using the Similarity Evaluation System for Chromatographic Fingerprint of Traditional Chinese Medicine(2012 edition) to determine common peaks, evaluate similarity, identify and determine the content of major components. The CCK-8 assay was used to explore the inhibitory effect of the main components on the proliferation of lung cancer cells. The results showed that in the established UPLC fingerprint of E. scaber, 35 common peaks were identified. Thirteen major components, including neochlorogenic acid(peak 1), chlorogenic acid(peak 2), cryptochlorogenic acid(peak 3), caffeic acid(peak 4), schaftoside(peak 6), galuteolin(peak 9), isochlorogenic acid B(peak 10), isochlorogenic acid A(peak 12), isochlorogenic acid C(peak 18), deoxyelephantopin(peak 28), isodeoxyelephantopin(peak 29), isoscabertopin(peak 31), and scabertopin(peak 32) were identified and quantified, and a quantitative analysis method was established. The results of the in vitro anti-cancer activity study showed that deoxyelephantopin, isodeoxyelephantopin, isoscabertopin, and scabertopin in E. scaber exhibited inhibition rates of lung cancer cell proliferation exceeding 80% at a concentration of 10 μmol·L~(-1), higher than the positive drug paclitaxel. These results indicate that the fingerprint of E. scaber is highly characteristic, and the quantitative analysis method is accurate and stable, providing references for the research on quality standards of E. scaber. Four sesquiterpene lactones in E. scaber show significant anti-cancer activity and can serve as Q-markers for E. scaber.
Humans
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Chromatography, High Pressure Liquid
;
Drugs, Chinese Herbal/chemistry*
;
Asteraceae/chemistry*
;
Lung Neoplasms/drug therapy*
4.Comparative study of three scores in predicting the death risk of severe burn patients.
Zhi Qin XIE ; Guang Hua GUO ; Zhen YANG ; Han Xiao YI ; Shui Lian WANG ; Xin Rong TANG ; De Guang LIU ; Yan De ZENG
Chinese Journal of Burns 2022;38(2):184-189
Objective: To explore the predictive values of the modified Baux score, Belgian Outcome in Burn Injury score, and Ryan score on the death risk of severe burn patients. Methods: A retrospective case series study was conducted. From February 2018 to November 2019, 260 severe burn patients who met the inclusion criteria were admitted to the Department of Burns of the First Affiliated Hospital of Nanchang University, including 158 males and 102 females, aged 36 (3, 53) years. According to the final outcome, the patients were divided into survival group (n=229) and death group (n=31). Data of patients were compared and statistically analyzed with chi-square test or Mann-Whitney U test between the two groups, including the gender, age, cause of burn, site of burn, total burn area, depth of burn, combined inhalation injury, and combined underlying diseases on admission, and the modified Baux score, Belgian Outcome in Burn Injury score, and Ryan score calculated based on part of the aforementioned data. The Kendall tau-b coefficient method was used to analyze the consistency of the above-mentioned three scores in 260 severe burn patients. The receiver operating characteristic (ROC) curves of the above-mentioned three scores predicting the death risk of 260 severe burn patients were drawn, and the area under the curve (AUC), the optimal threshold, and the sensitivity and specificity under the optimal threshold were calculated. The quality of AUC of the above-mentioned three scores was compared by Delong test. Results: The gender, site of burn, and depth of burn of patients between the two groups were all similar (P>0.05). The age, total burn area, proportion of flame burn, proportion of combined inhalation injury, and proportion of combined underlying diseases of patients in death group were significantly higher than those in survival group (with Z values of 5.53 and 17.78, respectively, χ2 values of 16.23, 15.89, and 17.78, respectively, P<0.01); the modified Baux score, Belgian Outcome in Burn Injury score, and Ryan score of patients in death group were 142 (115, 155), 7 (5, 7), 2 (2, 3), all significantly higher than 64 (27, 87), 1 (0, 3), 0 (0, 1) in survival group (with Z values of 7.91, 7.64, and 7.61, respectively, P<0.01). In 260 severe burn patients, the results between the modified Baux score and Ryan score, modified Baux score and Belgian Outcome in Burn Injury score, Ryan score and Belgian Outcome in Burn Injury score were significantly consistent (with Kendall tau-b coefficients of 0.75, 0.71, and 0.86, respectively, P<0.01). The AUCs of ROC curves of the modified Baux score, Belgian Outcome in Burn Injury score, and Ryan score for predicting the death risk of 260 severe burn patients were 0.92, 0.89, and 0.85, respectively (with 95% confidence intervals of 0.86-0.98, 0.83-0.95, and 0.78-0.93, respectively, P<0.01); the optimal thresholds were 106.5, 4.5, and 1.5 points, respectively; the sensitivity under the optimal threshold were 88.5%, 76.9%, and 73.1%, respectively, and the specificity under the optimal threshold were 88.5%, 87.2%, and 86.3%, respectively. The modified Baux score was similar to Belgian Outcome in Burn Injury score in the AUC quality (z=1.25, P>0.05), which were both significantly better than the AUC quality of Ryan score (with z values of 2.35 and 2.11, respectively, P<0.05). Conclusions: The modified Baux score, Belgian Outcome in Burn Injury score, and Ryan score have good ability in predicting the death risk of severe burn patients. From the perspective of clinical practice, the modified Baux score is more suitable as a predictive tool for the prognosis of severe burn patients.
Adult
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Burns
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Female
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Hospitalization
;
Humans
;
Male
;
Prognosis
;
ROC Curve
;
Retrospective Studies
5.Oxygen Metabolism-induced Stress Response Underlies Heart-brain Interaction Governing Human Consciousness-breaking and Attention.
Xiao-Juan XUE ; Rui SU ; Ze-Feng LI ; Xiao-Ou BU ; Peng DANG ; Si-Fang YU ; Zhi-Xin WANG ; Dong-Mei CHEN ; Tong-Ao ZENG ; Ming LIU ; Hai-Lin MA ; De-Long ZHANG
Neuroscience Bulletin 2022;38(2):166-180
Neuroscientists have emphasized visceral influences on consciousness and attention, but the potential neurophysiological pathways remain under exploration. Here, we found two neurophysiological pathways of heart-brain interaction based on the relationship between oxygen-transport by red blood cells (RBCs) and consciousness/attention. To this end, we collected a dataset based on the routine physical examination, the breaking continuous flash suppression (b-CFS) paradigm, and an attention network test (ANT) in 140 immigrants under the hypoxic Tibetan environment. We combined electroencephalography and multilevel mediation analysis to investigate the relationship between RBC properties and consciousness/attention. The results showed that RBC function, via two independent neurophysiological pathways, not only triggered interoceptive re-representations in the insula and awareness connected to orienting attention but also induced an immune response corresponding to consciousness and executive control. Importantly, consciousness played a fundamental role in executive function which might be associated with the level of perceived stress. These results indicated the important role of oxygen-transport in heart-brain interactions, in which the related stress response affected consciousness and executive control. The findings provide new insights into the neurophysiological schema of heart-brain interactions.
Awareness
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Brain
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Consciousness
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Humans
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Oxygen
;
Visual Perception
6.Effectiveness of azithromycin mass drug administration on trachoma: a systematic review.
Tao XIONG ; Yan YUE ; Wen-Xing LI ; Imti CHOONARA ; Shamim QAZI ; Hong-Ju CHEN ; Jun TANG ; Jing SHI ; Hua WANG ; Li-Nan ZENG ; Bin XIA ; Li-Na QIAO ; Yi QU ; De-Zhi MU
Chinese Medical Journal 2021;134(24):2944-2953
BACKGROUNDS:
Azithromycin mass drug administration (MDA) is a key part of the strategy for controlling trachoma. This systematic review aimed to comprehensively summarize the present studies of azithromycin MDA on trachoma; provide an overview of the impact of azithromycin MDA on trachoma in different districts; and explore the possible methods to enhance the effectiveness of azithromycin MDA in hyperendemic districts.
METHODS:
PubMed, Embase, the Cochrane Central Register of Controlled Trials, Web of Science, and ClinicalTrials.gov were searched up to February 2021 with no language restriction. Studies reporting the effect of azithromycin MDA on trachoma were included. Mathematical modeling studies, animal studies, case reports, and reviews were excluded. The trachomatous inflammation-follicular (TF) <5.0% was used to judge the effect of azithromycin MDA on eliminating trachoma as a public health problem. Two researchers independently conducted the selection process and risk of bias assessment.
RESULTS:
A total of 1543 studies were screened, of which 67 studies including 13 cluster-randomized controlled trials and 54 non-randomized studies were included. The effect of azithromycin MDA on trachoma was closely related to the baseline prevalence in districts. For the districts with baseline prevalence between 5.0% and 9.9%, a single round of MDA achieved a TF <5.0%. For the districts with baseline between 10.0% and 29.9%, annual MDA for 3 to 5 years reduced TF <5.0%. However, for the districts with high level of baseline prevalence (TF >30.0%), especially with baseline TF >50.0%, annual MDA was unable to achieve the TF <5.0% even after 5 to 7 years of treatment. Quarterly MDA is more effective in controlling trachoma in these hyperendemic districts.
CONCLUSIONS
Azithromycin MDA for controlling trachoma depends on the baseline prevalence. The recommendation by the World Health Organization that annual MDA for 3 to 5 years in the districts with TF baseline >10.0% is not appropriate for all eligible districts.
Anti-Bacterial Agents/therapeutic use*
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Azithromycin/therapeutic use*
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Humans
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Infant
;
Mass Drug Administration
;
Prevalence
;
Trachoma/epidemiology*
7.Value of anti-neutrophil cytoplasmic antibody in assessing the severity of bronchiolitis obliterans in children.
Xiao-Wen CHEN ; De-Hui CHEN ; Shang-Zhi WU ; Na XIE ; Wen-Kuan LIU ; Yu-Neng LIN ; Ya-Wen ZHANG ; Qing-Si ZENG
Chinese Journal of Contemporary Pediatrics 2020;22(9):990-995
OBJECTIVE:
To study the value of anti-neutrophil cytoplasmic antibody (ANCA) in assessing the severity of bronchiolitis obliterans (BO) in children.
METHODS:
A prospective analysis was performed on 59 children who were diagnosed with BO from June 2009 to October 2014. ELISA was used to measure the concentrations of myeloperoxidase (MPO)-ANCA and proteinase 3 (PR3)-ANCA in serum. According to the results of ELISA, the children were divided into three groups: double-negative ANCA (n=22), single-positive ANCA (n=17), and double-positive ANCA (n=20). The three groups were compared in terms of the scores of BO risk factors, clinical symptoms, chest high-resolution computed tomography (HRCT), and lung pathology on admission, as well as the changes in the expression level of ANCA and the scores of clinical symptoms and chest HRCT over time.
RESULTS:
Compared with the double-negative ANCA group, the double-positive ANCA group had a significantly higher score of BO risk factors (P<0.05), and the single-positive ANCA group and the double-positive ANCA group had significantly higher scores of clinical symptoms, chest HRCT, and lung pathology (P<0.05). The children were followed up for 6 months after discharge, and there were significant reductions in MPO-ANCA and PR3-ANCA titers from admission and discharge to the end of follow-up (P<0.05), as well as a significant reduction in the score of clinical symptoms from admission to the end of follow-up (P<0.05), while there was no significant change in the score of chest HRCT from admission to the end of follow-up (P>0.05). The single-positive ANCA and double-positive ANCA groups still had a significantly higher score of clinical symptoms than the double-negative ANCA group (P<0.05).
CONCLUSIONS
The expression level of ANCA is correlated with the severity of BO in children and thus has certain clinical significance in disease evaluation.
Antibodies, Antineutrophil Cytoplasmic
;
Bronchiolitis Obliterans
;
Child
;
Humans
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Myeloblastin
;
Peroxidase
;
Prospective Studies
8.Correlation between nephropathy score and hormone threapy in minimal change disease
Hui WANG ; Mei-Hong YAO ; Ming-Yue WANG ; De-Hua ZENG ; Ye-Ting ZENG ; Min LI ; Zhi-Yong ZHENG
Chinese Journal of Clinical and Experimental Pathology 2019;35(2):173-177
Purpose To observe the clinical characteristics, expression of C4d and the morphology of podocyte lesions in steroid-sensitive minimal change disease (SS-MCD) ,steroidresistant minimal change disease (SR-MCD) and early focal segmental glomerulosclerosis (E-FSGS) ,as well as to analyze their differences among the three groups,and provide a novel method for effective evaluation the therapeutic effects of steroid and diagnosis of SR-MCD. Methods To study the clinical data from 24 cases of SS-MCD,30 cases of SR-MCD and 25 cases of E-FSGS as control,and all the biopsies were examined by light microscopy,immunohistochemistry and transmission electron microscopy. Meanwhile,the clinical characteristics,the morphology of podocyte lesion and the expression of C4d were observed. Results The average score of podocyte lesion of SR-MCD was higher than that of SS-MCD,but lower than that of E-FSGS (P< 0. 05) . C4d positive average score of SS-MCD was lower than that of both SR-MCD and E-FSGS (P < 0. 05) ,but there was no significant difference between SR-MCD and E-FSGS (P > 0. 05) . The sum of the average score of podocyte lesion and C4d positive average score of SS-MCD was lower than that of SRMCD and E-FSGS (P < 0. 01) ,however,there was also no significant difference between SR-MCD and E-FSGS(P > 0. 05) . The scores of IgM,C3d and C1q were not significantly different among the three groups. The area under the receiver operating curve (ROC) of the C4d positive score,podocyte lesion score and the sum of the two were 0. 753,0. 658 and 0. 803,respectively, and there was no significant difference between them and the optimal cutoff values were 3,1. 5,and 4. 5 points,respectively. Conclusions The C4d positive score,podocyte lesion score and the sum of the two scores of MCD (the last one is named for MCD nephropathy score in our study) can be used for evaluating the therapeutic effects of steroid and identification of SR-MCD,most especially MCD nephropathy score. The optimal cut-off values of the three kinds of scores are 3,1. 5,and 4. 5 points,respectively. When the values are exceeded,the clinicians should be reminded to follow-up and take appropriate treatment measures to patients.
9.Influence of nicorandil on levels of hsCRP ,sCD40L and therapeutic effect of nicorandil in patients with microvascular angina pectoris
Bin CHEN ; Hua LIU ; Yong-Jun ZHANG ; Zhi-Hui MA ; Jian-Ping TAO ; Yu HU ; Jin-Mei ZENG ; Xing-De WANG ; Zhong CHEN
Chinese Journal of cardiovascular Rehabilitation Medicine 2018;27(3):296-299
Objective :To explore influence of nicorandil on plasma levels of high sensitive C reactive protein (hsCRP) and soluble T cell CD40 ligand (sCD40L) and therapeutic effect of nicorandil in patients with microvascular angina pectoris .Methods :A total of 102 patients with microvascular angina pectoris were enrolled ,randomly and equally divided into routine treatment group (received routine comprehensive treatment ) and nicorandil group (received nic-orandil based on routine comprehensive treatment ,5mg ,3 times/d) ,both groups were treated for eight weeks . Plasma levels of hsCRP and sCD40L were measured and compared between two groups before and eight weeks after treatment ,and therapeutic effect was compared between two groups .Results : Compared with before treatment there were significant reductions in plasma levels of hsCRP and sCD 40L in both groups after eight weeks ;compared with routine treatment group after treatment ,there were significant reductions in plasma levels of hsCRP [ (2.63 ± 0.25) mg/L vs.(1.80 ± 0.28) mg/L] and sCD40L [ (71.88 ± 3.71) pg/ml vs .(55.25 ± 2.47) pg/ml] in nicorandil group , P=0. 001 all.Total effective rate of nicorandil group was significantly higher than that of routine treatment group (78.43% vs.56.86%,P=0.02).Conclusion :Nicorandil can significantly rise clinical effect ,reduce plasma levels of hsCRP and sCD40L in patients with microvascular angina pectoris .
10.A visualization analysis of current research on stem cell transplantation in the treatment of neonatal hypoxic-ischemic encephalopathy.
Wen-Xing LI ; Jun TANG ; Rong ZOU ; Yan ZENG ; Yan YUE ; Xia QIU ; Yi QU ; De-Zhi MU
Chinese Journal of Contemporary Pediatrics 2018;20(12):1002-1007
OBJECTIVE:
To reveal the current research status on stem cell transplantation in the treatment of neonates with hypoxic-ischemic encephalopathy (HIE), and to summarize the recent hotspots of the research in this field.
METHODS:
Using the key words of "stem cells" and "HIE", a computerized search was performed for the articles in English published before June 1, 2018 in PubMed, EMBASE, and Web of Science. Microsoft Office Excel 2013 was used for the statistical analysis of key words. Bicomb 2.0 and VOSviewer 1.6.6 were used for the cluster analysis of hot words and plotting of knowledge maps, respectively.
RESULTS:
A total of 106 articles were included and 43 high-frequency key words were extracted. The words of "cell transplantation" and "hypoxia-ischemia" were in the core position of the co-word map. The cluster analysis showed that the studies of stem cell transplantation in the treatment of neonatal HIE mainly focused on umbilical cord blood cell transplantation (32.6%), mesenchymal stem cells and neural stem cells (29.5%), perinatal brain injury (28.1%), and other topics (9.8%).
CONCLUSIONS
In the current studies of stem cell transplantation in the treatment of neonatal HIE, umbilical cord blood cell transplantation, mesenchymal stem cells, neural stem cells, and perinatal brain injury are popular research topics at different levels.
Humans
;
Hypoxia-Ischemia, Brain
;
Infant, Newborn
;
Mesenchymal Stem Cells
;
Neural Stem Cells
;
Stem Cell Transplantation

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