1.A consistency comparison between next-generation sequencing and the FISH method for gene rearrangement detection in B-cell lymphomas
Zheng YAN ; Zhihua YAO ; Shuna YAO ; Shuang ZHAO ; Haiying WANG ; Junfeng CHU ; Yuanlin XU ; Jiuyang ZHANG ; Bing WEI ; Jiawen ZHENG ; Qingxin XIA ; Daoyuan WU ; Xufeng LUO ; Wenping ZHOU ; Yanyan LIU
Chinese Journal of Hematology 2024;45(6):561-565
Objective:To compare the consistency of lymphoma multigene detection panels based on next-generation sequencing (NGS) with FISH detection of B-cell lymphoma gene rearrangement.Methods:From January 2019 to May 2023, fusion genes detected by lymphoma-related 413 genes that targeted capture sequencing of 489 B-cell lymphoma tissues embedded in paraffin were collected from Henan Cancer Hospital, and the results were compared with simultaneous FISH detection of four break/fusion genes: BCL2, BCL6, MYC, and CCND1. Consistency was defined as both methods yielding positive or negative results for the same sample. The relationship between fusion mutation abundance in NGS and the positivity rate of cells in FISH was also analyzed.Results:Kappa consistency analysis revealed high consistency between NGS and FISH in detecting the four B-cell lymphoma-related gene rearrangement ( P<0.001 for all) ; however, the detection rates of positive individuals differed for the four genes. Compared with FISH, NGS demonstrated a higher detection rate for BCL2 rearrangement, a lower detection rate for BCL6 and MYC rearrangement, and a similar detection rate for CCND1 rearrangement. No correlation was found between fusion mutation abundance in NGS and the positivity rate of cells in FISH. Conclusions:NGS and FISH detection of B-cell lymphoma gene rearrangement demonstrate overall good consistency. NGS is superior to FISH in detecting BCL2 rearrangement, inferior in detecting MYC rearrangement, and comparable in detecting CCND1 rearrangement.
2.Principles for the rational use of national key monitoring drugs (the second batch)
Yuan BIAN ; Min CHEN ; Shan DU ; Wenyuan LI ; Lizhu HAN ; Qinan YIN ; Xiaojiao CUI ; Xuefei HUANG ; Zhujun CHEN ; Yang LEI ; Yingying HOU ; Xiaoqing YI ; Yueyuan WANG ; Xi ZHENG ; Xinxia LIU ; Ziyan LYU ; Yue WU ; Lian LI ; Xingyue ZHENG ; Liuyun WU ; Junfeng YAN ; Rongsheng TONG
China Pharmacy 2023;34(20):2433-2453
In order to strengthen the supervision of the use of drugs in hospitals,the Sichuan Academy of Medical Sciences· Sichuan Provincial People’s Hospital took the lead in compiling the Principles for the Rational Use of National Key Monitoring Drugs (the Second Batch) with a number of experts from multiple medical units in accordance with the Second Batch of National Key Monitoring Rational Drug Use List (hereinafter referred to as “the List”) issued by the National Health Commission. According to the method of the WHO Guidelines Development Manual, the writing team used the Delphi method to unify expert opinions by reading and summarizing the domestic and foreign literature evidence of related drugs, and applied the evaluation, formulation and evaluation method of recommendation grading (GRADE) to evaluate the quality of evidence formed, focusing on more than 30 drugs in the List about the evaluation of off-label indications of drugs, key points of rational drug use and key points of pharmaceutical monitoring. It aims to promote the scientific standardization and effective management of clinical medication, further improve the quality of medical services, reduce the risk of adverse drug reactions and drug abuse, promote rational drug use, and improve public health.
3.Differences in lung function between sanitation workers and general population and the risk factors for airflow limitation
Jinhai HUANG ; Yun LI ; Junfeng LIN ; Yongyi PENG ; Wanyi JIANG ; Qingxiu XIE ; Lunfang TAN ; Shuyi LIU ; Zhenyu LIANG ; Jinping ZHENG ; Yi GAO
Chinese Journal of Health Management 2023;17(11):828-835
Objective:To compare the differences in lung function between sanitation workers and the general population undergoing routine physical examinations, and to analyze the risk factors for restricted airflow and severity of the condition in sanitation workers.Methods:This study is a large cross-sectional study called "Shanxin Respiratory Health Screening for Ten Thousand People". A total of 1 036 sanitation workers (sanitation group) and 6 701 individuals from the general population undergoing routine physical examinations (control group) were selected as the original study subjects from June 2021 to April 2022 (before matching). Both groups underwent pre-bronchodilator lung function tests, and the differences in lung function characteristics between the two groups were compared. The sanitation group also completed a questionnaire survey. Multivariate and ordinal multinomial logistic regression analysis were used to analyze the risk factors for airflow limitation and its severity.Results:A total of 1 027 individuals from the sanitation group and 999 individuals from the control group were included in the study. There were no significant differences in age, gender, height, weight, and body mass index (BMI) between the two groups (all P>0.05). The rate of airflow restriction was significantly higher in the sanitation group compared to the control group (22.88% vs 8.81%, P<0.001). In the sanitation group, there was no statistically significant difference in a self-assessment test for chronic obstructive pulmonary disease (CAT) scores between individuals with airflow restriction (235 cases) and those without airflow restriction (792 cases) [(1.50±2.50) vs (1.15±2.03) points, P=0.084]. There were no statistically significant differences in forced vital capacity (FVC) as a percentage of predicted value (FVC%pred) between the two groups. However, the sanitation group had significantly lower %pred for forced expiratory volume in one second (FEV 1%pred), FVC/FEV 1 ratio (FEV 1/FVC%pred), forced expiratory flow at 50% of FVC (FEF 50%%pred), forced expiratory flow at 75% of FVC (FEF 75%%pred), and maximal mid-expiratory flow (MMEF%pred) compared to the control group (all P<0.05). The rates of abnormal FEF 50%%pred, FEF 75%%pred, and MMEF%pred were significantly higher in the sanitation group compared to the control group (17.62% vs 10.31%, 17.04% vs 10.01%, 27.26% vs 18.41%, all P<0.001). Small airway parameters and the rate of airflow restriction were significantly higher in past and current smokers of the sanitation group compared to never smokers (all P<0.05). Multifactorial analysis showed that high BMI ( OR=0.929, 95% CI: 0.885-0.974) was a protective factor for airflow restriction, while high smoking index was a risk factor ( OR=1.020, 95% CI: 1.011-1.030). Ordered multinomial logistic regression analysis showed that high BMI ( OR=0.925, 95% CI: 0.882-0.971) was a protective factor for the severity of airflow restriction, while high smoking index ( OR=1.020, 95% CI: 1.011-1.029) was a risk factor for the severity of airflow restriction. Conclusions:The incidences of airflow limitation and small airway abnormalities in sanitation workers are higher than that in general physical examination population. High smoking index and low BMI are independent risk factors for airflow limitation and its severity.
4.Screening of marine resistant strain based on PKS and NRPS genes and the activity of its metabolites.
Liying ZHANG ; Junfeng LIU ; Jiliang DONG ; Liming JIN ; Yongbin XU ; Wei ZHENG ; Chunshan QUAN
Chinese Journal of Biotechnology 2022;38(12):4520-4535
Based on polyketide syntheses gene (PKS) and non-ribosomal peptide synthetases gene (NRPS), one strain with high anti-pathogenic activity was screened from 77 strains isolated from Arctic marine sediments and identified. By optimizing the composition of culture medium and fermentation conditions, the production of this strain's active metabolites was improved and the main metabolites were identified by HRMS, 1H NMR and 13C NMR. The antibacterial spectrum of the main metabolites and the effect of the metabolites on cucumber Fusarium wilt were also determined. The results showed that the strain was Bacillus velezensis and it showed growth promoting effect on plants. When the strain was cultured in 5 g/L maltose, 10 g/L tryptone, 10 g/L sodium chloride, at 30 ℃, 150 r/min for 60 h, the diameter of the inhibition zone increased from (16.23±0.42) to (24.42±0.57) mm. The metabolites of this strain mainly contain macrolide compound macrolactin A, which has antagonistic effect on a variety of pathogenic bacteria and fungi. Cucumber seedling experiments showed that the metabolites of this strain had a protective effect on cucumber Fusarium wilt, and showed a good potential for development and application as a biocontrol agent.
Polyketides/pharmacology*
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Fungi
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Bacteria
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Fusarium/genetics*
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Anti-Bacterial Agents/pharmacology*
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Peptide Synthases/genetics*
5.Construction and application of natural stable isotope correction matrix in 13C-labeled metabolic flux analysis.
Shiyuan ZHENG ; Junfeng JIANG ; Jianye XIA
Chinese Journal of Biotechnology 2022;38(10):3940-3955
Stable isotope 13C labeling is an important tool to analyze cellular metabolic flux. The 13C distribution in intracellular metabolites can be detected via mass spectrometry and used as a constraint in intracellular metabolic flux calculations. Then, metabolic flux analysis algorithms can be employed to obtain the flux distribution in the corresponding metabolic reaction network. However, in addition to carbon, other elements such as oxygen in the nature also have natural stable isotopes (e.g., 17O, 18O). This makes the isotopic information of elements other than the 13C marker interspersed in the isotopic distribution measured by the mass spectrometry, especially that of the molecules containing many other elements, which leads to large errors. Therefore, it is essential to correct the mass spectrometry data before performing metabolic flux calculations. In this paper, we proposed a method for construction of correction matrix based on Python language for correcting the measurement errors due to natural isotope distribution. The method employed a basic power method for constructing the correction matrix with simple structure and easy coding implementation, which can be directly applied to data pre-processing in 13C metabolic flux analysis. The correction method was then applied to the intracellular metabolic flux analysis of 13C-labeled Aspergillus niger. The results showed that the proposed method was accurate and effective, which can serve as a reliable data correction method for accurate microbial intracellular metabolic flux analysis.
Metabolic Flux Analysis
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Isotope Labeling/methods*
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Carbon Isotopes/metabolism*
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Mass Spectrometry/methods*
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Metabolic Networks and Pathways
6.A long-term clinical report of a modified unilateral cutaneous ureterostomy in bladder cancer patients receiving radical cystectomy
Shenghua LIU ; Cheng LI ; Zongtai ZHENG ; Yang YAN ; Jiang GENG ; Ming LUO ; Tianyuan XU ; Junfeng ZHANG ; Yifan CHEN ; Jianhua HUANG ; Xudong YAO
Chinese Journal of Urology 2022;43(3):207-211
Objective:To explore the long-term efficacy of a modified unilateral cutaneous ureterostomy in bladder cancer patients receiving radical cystectomy.Methods:The medical data of 104 bladder cancer patients who underwent ureterostomy in our hospital from Janurary 2013 to December 2020 were retrospectively analyzed. The patients were divided into unilateral and bilateral group. The unilateral group contained 66 cases, with 53 males and 13 females, average age (71.8±9.8) years, body mass index (BMI)(23.3±3.2)kg/m 2. The bilateral group contained 38 cases, with 33 males and 5 females, average age (75.1±10.8) years; BMI (22.7±3.0)kg/m 2. There was no significant difference in the above characteristics between the two groups ( P>0.05). The pathology, survival status, long-term complications between the two groups were compared. Quality of life was assessed during follow-up using the European Core Questionnaire for Quality of Life in Cancer Patients (EORTC QLQ-C30). Results:The unilateral group contained 46(69.7%) muscle invasive bladder cancer (MIBC) cases, 15 (22.7%) cases with lymph node metastasis, 7 (10.6%) cases with distant metastasis. The bilateral group contained 24(63.2%) muscle invasive bladder cancer(MIBC) cases, 6 (15.8%) cases with lymph node metastasis, 2 (5.3%) cases with distant metastasis. There was no significant difference in disease specific survival between the two groups ( P>0.05). During the follow-up, the incidence of overall complication rate in the unilateral group was significantly lower than that in the bilateral group [43.9% (29/66) vs. 63.2% (24/38), P<0.001]. The incidence of pyelonephritis in unilateral group was significantly lower than that in the bilateral group [16.6%(11/66) vs. 42.1%(16/38), P=0.006]. There was no statistical significance in terms of quality of life before operation in the two groups. After operation, both physical function score[(54.9±7.1) vs.(49.2±6.7)] and emotional function score [(63.1±6.4) vs.(59.9±6.7)] in unilateral group were higher than that in bilateral group ( P<0.05). Conclusions:The modified unilateral cutaneous ureterostomy could achieve relatively low complication rate, and improve the quality of life to some extent compared with bilateral ureterostomy.
7.Genetic testing and clinical phenotypic analysis of familial vitreous amyloidosis in two Han Chinese families
Wei ZHENG ; Haibo LI ; Xueyong ZHANG ; Xuezhi ZHOU ; Yuanyuan CHEN ; Junfeng MAO
Chinese Journal of Experimental Ophthalmology 2021;39(8):714-718
Objective:To investigate the clinical characteristics of two Han families with familial vitreous amyloidosis (FVA) and the gene mutation.Methods:A pedigree investigation was performed.Two Han Chinese families with FVA treated in Xiangya Hospital of Central South University from January 2015 to December 2018 were collected.General examination and ophthalmic examination were performed among 112 members of the two families.Peripheral blood samples were collected from 32 family members (15 patients in MZ001 pedigree, 7 patients in MZ002 pedigree, and 5 persons with normal clinical phenotype from each pedigree) for DNA extraction, polymerase chain reaction (PCR) amplification, transthyretin ( TTR) gene screening and sequencing.Vitreous biopsy following three-channel 23-gauge pars plana vitrectomy was performed on the two probands in the two families.Vitreous specimens were sent for pathological examination.This study adhered to the Declaration of Helsinki.The study protocol was approved by an Ethics Committee of Xiangya Hospital of Central South University (No.201412463), and written informed consent was obtained from all subjects before any medical examination. Results:In MZ001, there were 15 cases of the 63 members presented bilateral vitreous opacity at an average age of (43.6±5.8) years.No lesion was found in nervous system, cardiovascular system, kidney or liver in general inspection.The vitreous of the proband (Ⅲ13) was so sticky that could not be totally removed during vitrectomy.The vitreous specimen showed positive Congo red staining.Ⅲ13 had elevated intraocular pressure after vitrectomy and was diagnosed as open-angle glaucoma.Gene sequencing revealed Gly83Arg mutation in the exon 3 of TTR gene.In MZ002, 7 cases of 49 members had bilateral vitreous opacity at an average age of (50.4±5.5) years, among which, 3 cases appeared symptoms of limb numbness and decreased muscle strength.The vitreous body of the proband (Ⅱ11) in MZ002 pedigree was looser and easier to remove during vitrectomy than that of Ⅲ13 in MZ001 pedigree.Vitreous specimen of Ⅱ11 was positive with Congo red staining.Gene sequencing revealed an Ala36Pro variant in the exon 3 of TTR gene. Conclusions:Gly83Arg or Ala36Pro mutation of TTR gene can cause FVA.Different mutations can lead to different clinical phenotypes such as age of onset, clinical symptoms and complications of other systems.
8.Efficacy of TiRobot-assisted surgery by O-arm navigation for minimally invasive treatment of type C pelvic fractures
Tianlong WANG ; Zifei ZHOU ; Junfeng LIU ; Longpo ZHENG
Chinese Journal of Trauma 2021;37(8):701-707
Objective:To evaluate the effectiveness of TiRobot-assisted surgery by O-arm navigation for minimally invasive treatment of type C pelvic fractures.Methods:A retrospective case control study was conducted on clinical data of 53 patients with type C pelvic ring fractures treated between January 2018 and September 2019 at Shanghai Tenth People’s Hospital. There were 29 males and 24 females,aged 20-68 years[(40.4 ± 15.5)years]. All were diagnosed with AO type C fractures. A total of 32 patients underwent minimally invasive internal fixation by TiRobot orthopedic system assisted with O-arm navigation(TiRobot group),and 21 patients were managed by minimally invasive internal fixation under the fluoroscopy guidance of the C-arm X-ray machine(control group). The operation time,intraoperative blood loss,fluoroscopy time of screw and good and excellent rate of screw placement were recorded. One week after surgery,the pain intensity was assessed by visual analog scale(VAS),and the fracture reduction quality by Matta radiographic criteria. At the latest follow-up,the recovery of pelvic function was evaluated by Majeed criteria. Complications were recorded after operation and during the follow-up.Results:All patients were followed up for 12-15 months[(13.2 ± 0.3)months]. The operation time was(85.2 ± 6.9)minutes in TiRobot group and(101.0 ± 6.7)minutes in control group( P < 0.05). The intraoperative blood loss showed no significant difference between the two groups( P > 0.05). The fluoroscopy time of screw placement was 6(5,7)seconds in TiRobot group,compared to 10(10,15)seconds in control group( P < 0.05). In TiRobot group,the screw placement was excellent in 30 patients,good in 1,and fair in 1,with the excellent and good rate of 97%(31/32),while in control group,15 patients showed excellent placement of screws,2 good,and 4 fair,with the excellent and good rate of 76%(17/21)( P < 0.05). There was no significant difference in VAS between the two groups at postoperative one week( P > 0.05).At the latest follow-up,the pelvic reduction quality based on Matta radiographic criteria and pelvic function using Majeed criteria did not differ significantly between the two groups( P > 0.05). No complications occurred after operation and during the follow-up,such as loosening or breakage of screws,heterotopic ossification,vascular injury or nerve injury. Conclusion:For type C pelvic fractures,TiRobot-assisted minimally invasive internal fixation by O-arm navigation can shorten operation time and intraoperative fluoroscopy time,and improve the accuracy of screw placement when compared to C-arm fluoroscopy.
9.Clinical and Immunological Factors Associated with Postpartum Hepatic Flares in Immune-Tolerant Pregnant Women with Hepatitis B Virus Infection Treated with Telbivudine
Junfeng LU ; Xiaoxiao WANG ; Yunxia ZHU ; Lina MA ; Sujun ZHENG ; Zhongjie HU ; Xinyue CHEN
Gut and Liver 2021;15(6):887-894
Background/Aims:
To investigate postpartum hepatic flares and associated factors in highly viremic pregnant patients in the immune tolerance phase who adopted telbivudine (LdT) treatment in the last trimester to reduce vertical transmission of hepatitis B virus.
Methods:
Hepatitis B e antigen (HBeAg)-positive, highly viremic pregnant women were recruited for this prospective study. Treatment with LdT was started from 28 weeks of gestation. Virological and biochemical markers were examined before LdT treatment, antepartum and postpartum. Serial blood samples at the same time were collected to detect cytokines and cortisol (COR).
Results:
Fifty-six of 153 patients (36.6%) had postpartum hepatic flares, defined as a 2-fold increase in alanine aminotransferase 6 weeks after delivery. Age and the antepartum alanine aminotransferase and postpartum HBeAg levels were independent influencing factors of postpartum hepatic flares. Cytokines showed no regularity during or after pregnancy. Compared with the patients with no postpartum flares, the patients with flares had lower baseline interferon γ and COR levels (p=0.022 and p=0.028) and higher postpartum interferon γ levels (p=0.026).
Conclusions
A high proportion of highly viremic and immune-tolerant pregnant patients treated with LdT in the last trimester had postpartum hepatic flares, which implied that these patients entered the immune clearance phase after delivery. Thus, this may create an appropriate opportunity for re-antiviral therapy.
10.Related factors analysis of body composition and cardiovascular disease in patients with chronic kidney disease
Kaiyuan ZHENG ; Chun LIU ; Chuan LIN ; Junfeng YAN
Chinese Journal of Nephrology 2021;37(1):1-7
Objective:To investigate the correlation between body composition and cardiovascular disease (CVD) in patients with chronic kidney disease (CKD).Methods:CKD patients who were hospitalized in the Department of Nephrology of Chongqing General Hospital from January 2017 to December 2019 and had complete clinical biochemical data were divided into CKD patients with CVD and CKD patients without CVD according to their medical history and corresponding auxiliary examinations. Clinical data were collected and anthropometric measurements were conducted. Skeletal muscle index (SMI), appendage lean mass/height 2, total body fat (TBF), visceral adipose tissue (VAT), bone mineral capacity, bone mineral density and et al, were measured by dual-energy X-ray absorptiometry. T test, U test and Chi-square test were used for statistical analysis. Logistic regression was used to analyze the relationship between body composition and CVD. Results:A total of 604 CKD patients were included in this study, including 560 patients (92.7%) with CKD stage 3, 44 patients (7.3%) with CKD stage 4, and 180 CKD patients with CVD (29.8%), 424 CKD patients without CVD (70.2%). Compared with CKD patients without CVD, the proportion of men, the proportion of hypertension, the proportion of diabetes, age, duration of CKD, systolic blood pressure, blood uric acid, waist to hip ratio and waist circumference were higher (all P<0.05), while low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol, and estimated glomerular filtration rate (eGFR) were lower in CKD patients with CVD (all P<0.05). In terms of body composition, SMI ( t=-11.964, P<0.001) and body mass index ( t=-4.462, P<0.001) in CKD patients with CVD were significantly lower than those in CKD patients without CVD, but VAT ( t=3.089, P=0.002) and TBF ( t=5.177, P<0.001) in CKD patients with CVD were significantly higher. After adjusting for confounders such as age, CKD duration, hypertension history, diabetes history, LDL-C, body mass index, eGFR, TBF, etc. by multivariate logistic regression analysis, the risk of CKD patients suffering from CVD increased significantly with the decrease of SMI [with SMI high tertile (36.37%-50.80%) as reference, SMI middle tertile (28.23%-36.31%): OR=1.49, 95% CI 1.24-1.71, P=0.003; SMI low tertile (15.28%-28.19%): OR=2.17, 95% CI 1.79-2.62, P<0.001], and VAT was not found to be associated with the risk of CVD in CKD patients ( P>0.05). Conclusion:Reduction of SMI is independently associated with CVD in CKD patients.

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