1.Expert Consensus on Clinical Diseases Responding Specifically to Traditional Chinese Medicine: Threatened Abortion
Xinchun YANG ; Shuyu WANG ; Huilan DU ; Songping LUO ; Zhe JIN ; Rong LI ; Xiangyan RUAN ; Qin ZHANG ; Xiaoling FENG ; Shicai CHEN ; Fengjie HE ; Shaobin WEI ; Qun LU ; Yanqin WANG ; Yang LIU ; Qingwei MENG ; Zengping HAO ; Ying LI ; Mei MO ; Xiaoxiao ZHANG ; Ruihua ZHAO
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(7):241-246
Threatened abortion is a common disease of obstetrics and gynecology and one of the diseases responding specifically to traditional Chinese medicine (TCM). The China Association of Chinese Medicine organized experts in TCM obstetrics and gynecology, Western medicine obstetrics and gynecology, and pharmacology to deeply discuss the advantages of TCM and integrated Chinese and Western medicine treatment as well as the medication plans for threatened abortion. After discussion, the experts concluded that chromosome, endocrine, and immune abnormalities were the key factors for the occurrence of threatened abortion, and the Qi and blood disorders in thoroughfare and conception vessels were the core pathogenesis. In the treatment of threatened abortion, TCM has advantages in preventing miscarriages, alleviating clinical symptoms and TCM syndromes, relieving anxiety, regulating reproductive endocrine and immune abnormalities, personalized and diversified treatment, enhancing efficiency and reducing toxicity, and preventing the disease before occurrence. The difficulty in diagnosis and treatment of threatened abortion with traditional Chinese and Western medicine lies in identifying the predictors of abortion caused by maternal factors and the treatment of thrombophilia. Recurrent abortion is the breakthrough point of treatment with integrated traditional Chinese and Western medicine. It is urgent to carry out high-quality evidence-based medicine research in the future to improve the modern diagnosis and treatment of threatened abortion with TCM.
2.Carrier screening for 223 monogenic diseases in Chinese population:a multi-center study in 33 104 individuals
Wei HOU ; Xiaolin FU ; Xiaoxiao XIE ; Chunyan ZHANG ; Jiaxin BIAN ; Xiao MAO ; Juan WEN ; Chunyu LUO ; Hua JIN ; Qian ZHU ; Qingwei QI ; Yeqing QIAN ; Jing YUAN ; Yanyan ZHAO ; Ailan YIN ; Shutie LI ; Yulin JIANG ; Manli ZHANG ; Rui XIAO ; Yanping LU
Journal of Southern Medical University 2024;44(6):1015-1023
Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.
3.Carrier screening for 223 monogenic diseases in Chinese population:a multi-center study in 33 104 individuals
Wei HOU ; Xiaolin FU ; Xiaoxiao XIE ; Chunyan ZHANG ; Jiaxin BIAN ; Xiao MAO ; Juan WEN ; Chunyu LUO ; Hua JIN ; Qian ZHU ; Qingwei QI ; Yeqing QIAN ; Jing YUAN ; Yanyan ZHAO ; Ailan YIN ; Shutie LI ; Yulin JIANG ; Manli ZHANG ; Rui XIAO ; Yanping LU
Journal of Southern Medical University 2024;44(6):1015-1023
Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.
4.Diagnostic value of vaginal color Doppler flow parameters in different FIGO stages of epithelial ovarian cancer
Qingwei LU ; Xuming SU ; Yuan ZHANG ; Jingpu LI
Chinese Journal of Endocrine Surgery 2023;17(1):95-99
Objective:To investigate the diagnostic value of vaginal color Doppler flow parameters in patients with epithelial ovarian cancer in different FIGO staging.Methods:178 patients with ovarian tumors who were treated by surgery in Dingzhou People’s Hospital from Jul. 2016 to Jul. 2022 were selected, and they were divided into ovarian cancer group (65 cases) and ovarian cyst group (113 cases) according to the results of postoperative pathological diagnosis. According to FIGO staging standards, ovarian cancer was divided into FIGO stage I (18 cases) , FIGO stage II (16 cases) , FIGO stage III (16 cases) and FIGO stage IV (15 cases) . The blood flow parameters of vaginal color Doppler ultrasound were measured, including arterial pulsatility index (PI) , end diastolic flow velocity (EDV) , resistance index (RI) , peak flow velocity (PSV) , serum vascular endothelial growth factor (VEGF) and human epididymal epithelial secretory protein 4 (HE4) . The levels of PI, EDV, RI, PSV, VEGF and HE4 were compared between the two groups and patients with different FIGO stages, and the value of ROC analysis of vaginal color Doppler flow parameters in predicting the occurrence of ovarian cancer was analyzed. The correlation between FIGO stage and vaginal color Doppler flow parameters and serum VEGF and HE4 levels was analyzed by person coefficient.Results:PI and RI levels in ovarian cancer group were (0.79 ± 0.15) , and (0.39 ± 0.12) , lower than those in ovarian cyst group (1.51 ± 0.17) , (0.72 ± 0.16) ; EDV, PSV, HE4, VEGF levels were (13.88 ± 4.18) cm/s, (25.61 ± 4.53) cm/s, (283.92 ± 28.97) pmol/L, and (372.55 ± 38.96) ng/mL, higher than those in ovarian cyst group ( P<0.05) . According to ROC analysis, the best cutoff values of transvaginal color Doppler blood flow parameters for predicting the occurrence of ovarian cancer were PI<1.235, EDV≥10.985 cm/s, RI<0.580, PSV≥22.975cm/s, all P<0.05. The levels of PI and RI in patients with different FIGO stages showed a decreasing trend with the increase of the severity of the disease, while the levels of EDV, HE4 and VEGF showed an increasing trend ( P<0.05) . There was no significant difference in PSV levels between patients with different FIGO stages ( P>0.05) . The correlation analysis showed that FIGO stage was positively correlated with the blood flow parameters EDV and the levels of serum HE4 and VEGF. FIGO stage was negatively correlated with PI and RI ( P<0.05) . Conclusions:There were significant differences in the levels of PI, RI and EDV in patients with ovarian cysts and ovarian cancer at different FIGO stages. The levels of PI, RI and EDV are closely related to the malignant degree of ovarian cancer.
5.Voiding diary predicts the therapeutic effects on primary monosymptomatic nocturnal enuresis
Shuai LI ; Shuai YANG ; Zhaokai ZHOU ; Yanping ZHANG ; Jing YANG ; Guoxian ZHANG ; Qingwei WANG ; Wei LU ; Jianguo WEN
Journal of Modern Urology 2023;28(4):283-286
【Objective】 To investigate the possibility of using voiding diary (VD) to predict desmopressin diacetate arginine vasopressin (DDAVP) and enuresis alarm (EA) in the treatment of primary monosymptomatic nocturnal enuresis (PMNE). 【Methods】 A total of 100 children (aged 6 to 14 years) with PMNE treated during Jan.2018 and Oct.2022 were involved. Bladder type was classified with two-week VD. Pseudo-randomization was performed using the Danish REDCap system to group patients into the randomized group and VD group. All patients were treated for 8 weeks. 【Results】 A total of 82 cases met the inclusive criteria. The effective rate was 82.50% (33/40) and 59.52% (25/42) in the VD and randomized groups, respectively, with significant difference (χ2=5.224, P=0.022). In the randomized group, if VD was not considered, the effective rate in the DDAVP and EA subgroups was 81.82% (18/22) and 25.00% (5/20), respectively, with significant difference (χ2=13.625, P=0.000). 【Conclusion】 VD can predict the therapeutic effects of PMNE. It is necessary to record VD for two weeks before selecting appropriate treatment methods. For patients who choose treatment without reference to VD, DDAVP shows better response than EA, but the recurrence rate after discontinuation of treatment requires further follow-up.
6.Establishment of a rapid identification of adverse drug reaction program in R language implementation based on monitoring data.
Dongsheng HONG ; Jian NI ; Wenya SHAN ; Lu LI ; Xi HU ; Hongyu YANG ; Qingwei ZHAO ; Xingguo ZHANG
Journal of Zhejiang University. Medical sciences 2020;49(2):253-259
OBJECTIVE:
To establish a clinically applicable model of rapid identification of adverse drug reaction program (RiADP) for risk management and decision-making of clinical drug use.
METHODS:
Based on the theory of disproportion analysis, frequency method and Bayes method, a clinically applicable RiADP model in R language background was established, and the parameters of the model were interpreted by MedDRA coding. Based on the actual monitoring data of FDA, the model was validated by the assessing hepatotoxicity of lopinavir/ritonavir (LPV/r).
RESULTS:
The established RiADP model included four parameters: standard value of adverse drug reaction signal information, empirical Bayesian geometric mean value, ratio of reporting ratio and number of adverse drug reaction cases. Through the application of R language parameter package "phViD", the model parameters could be output quickly. After being encoded by MedDRA, it was converted into clinical terms to form a clinical interpretation report of adverse drug reactions. In addition, the evaluation results of LPV/r hepatotoxicity by the model were matched with the results reported in latest literature, which also proved the reliability of the model results.
CONCLUSIONS
In this study, a rapid identification method of adverse reactions based on post marketing drug monitoring data was established in R language environment, which is capable of sending rapid warning of adverse reactions of target drugs in public health emergencies, and providing intuitive evidence for risk management and decision-making of clinical drugs.
Databases, Pharmaceutical
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Decision Making, Computer-Assisted
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Drug Monitoring
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Drug-Related Side Effects and Adverse Reactions
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HIV Protease Inhibitors
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adverse effects
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pharmacology
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Humans
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Liver
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drug effects
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Lopinavir
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adverse effects
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toxicity
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Models, Statistical
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Reproducibility of Results
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Software
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standards
7.A retrospective study of endoscopic treatment on early gastric cancer in a single center for 10 years
Long ZOU ; Xi WU ; Aiming YANG ; Jieyao CHENG ; Fang YAO ; Weixun ZHOU ; Tao GUO ; Dongsheng WU ; Qingwei JIANG ; Yunlu FENG ; Yimin LI ; Xinghua LU
Chinese Journal of Digestive Endoscopy 2018;35(4):234-239
Objective To evaluate the efficacy, safety and risk factors of endoscopic treatment for patients with early gastric cancer. Methods A retrospective study was conducted in a single center and data was collected from 186 early gastric cancers in 168 pathologically confirmed patients who received endoscopic treatment in Peking Union Medical College Hospital from January 2006 to December 2015. The cases were divided into different groups according to indications of endoscopic treatment. The curative resection rate and complication rate were analyzed. Post-resection outcomes were evaluated by long-term surveillance. Results The curative resection rate was 86. 9%( 73/84) in the group with absolute indications, 61. 7%(50/81)in the group with expanded indications, and 33. 3%(7/21) in the group beyond indications (P<0. 01). Multivariate analysis revealed that the significant independent predictors for curative resection included lower third location of stomach, no ulceration,≤2 cm at diameter, no adhesion, and well-differentiation in histopathology. In the expanded indications group, discordance of differentiation type and deeper invasion mainly resulted in non-curative resection in en bloc lesions. The rate of bleeding and perforation was 4. 8%( 9/186) and 3. 8%( 7/186), respectively. The perforation rate was significantly lower in the lesions located in the lower third of stomach, without adhesion or performed by en bloc resection. During a median follow-up period of 22. 3 months, 154 patients were followed successfully. The incidence of synchronous and metachronous gastric cancers in curative resected lesions was 7. 5%( 8/106) and 0. 9%(1/106), respectively. Conclusion Endoscopic resection is an optimal treatment with high curative resection rate for early gastric cancer patients with absolute indications. Patients with expanded indications should take precise preoperative evaluation to avoid higher risk of non-curative resection endoscopically. Close follow-up is necessary for synchronous and metachronous gastric cancers after endoscopic resection.
8.Dynamic Changes of Type Th22 Cell Immunological Response During Atherosclerosis Process in Experimental Mice
Jun WAN ; Lei SHI ; Qingwei JI ; Ying SHI ; Ling LIU ; Zhengde LU ; Ying FENG ; Jing YE ; Yingzhong LIN
Chinese Circulation Journal 2016;31(5):454-458
Objective: To study the dynamic changes of type Th22 cell immunological response during atherosclerosis process in experimental mice in order to provide a new theoretical basis for atherosclerosis therapy. Methods: 8 weeks C57BL/6J mice were divided into 2 groups: Experiment group,n=24 ApoE-/- mice and Control group, n=24 normal mice. All animals received high fat diet and the following indexes were compared between 2 groups at 0, 4, 8, 12 weeks after treatment: aortic atherosclerotic lesions were deifned by Oil red O staining, dynamic changes of Th22 cells in spleen were measured by lfow cytometry, mRNA expressions of interleukin-22 (IL-22), IL-22R1, AhR and T-bet in aorta were examined by RT-PCR, blood levels of IL-22 was detected by ELISA. Results: Compared with Control group, Experiment group had the increased area of aortic atherosclerosis (the ratio of plaque area/lumen area) and Th22 cell (CD4+ IL-22+/CD4+T cell) amount, elevated mRNA expressions of IL-22, IL-22R1, AHR, T-bet in aorta and higher blood levels of IL-22 at all time points, the differences between each time point (except 0 week) had the statistic meaning,P<0.05. In Experiment group, the differences between 2 adjacent time points, for the area of aortic atherosclerosis and mRNA expressions of AHR, T-bet: 4 weeks vs 0 week, 8 weeks vs 4 weeks, 12 weeks vs 8 weeks all had statistic meaning; for Th22 cell amount: 4 weeks vs 0 week, 8 weeks vs 4 weeks had statistic meaning and 12 weeks vs 8 weeks had no real distinction; for mRNA expressions of IL-22, IL-22R1 and blood levels of IL-22: 4 weeks vs 0 week had statistic meaning and 8 weeks vs 4 weeks, 12 weeks vs 8 weeks had no real distinctions. Conclusion: Hyperactive immunological response of Th22 cells might be involved in atherosclerosis process, the relevant mechanism should be further studied.
9. CLINICAL APPLICATION OF AXIAL LOAD MECHANICAL TESTING IN REMOVING EXTERNAL FIXATOR AFTER TIBIA AND FIBULA FRACTURES SURGERY
Chinese Journal of Reparative and Reconstructive Surgery 2016;30(9):1085-1088
OBJECTIVE: To explore the efficacy and safety of the axial load mechanical testing for removing external fixator. METHODS: Between January 2014 and August 2015, 27 patients with tibia and fibula fractures caused by trauma underwent an external fixation. Of 27 patients, 21 were male and 6 were female with the average age of 45 years (range, 19-63 years), including 7 cases of closed fracture and 20 cases of open fracture. X-ray film results showed spiral unstable fracture in 4 cases and comminuted unstable fracture in 23 cases. All patients underwent an external fixation. Bone nonunion occurred in 3 cases because of infection, and bone nonunion combined with bone defect occurred in 1 case, who received tibial osteotomy lengthening surgery. When X-ray film showed continuity high density callus formation at fracture site, axial load mechanical test was performed. If the axial load ratio of external fixator was less than 10%, the external fixator was removed. RESULTS: At 21-85 weeks after external fixation (mean, 44 weeks), axial load mechanical test was performed. The results showed that the axial load ratio of external fixation was less than 10% in 26 cases, and the external fixator was removed; at 6 weeks after removal of external fixator, the patients could endure full load and return to work, without re-fracture. The axial load ratio was 14% in 1 case at 85 weeks, and the X-ray film result showed that fracture did not completely heal with angular deformity; re-fracture occurred after removing external fixator, and intramedullary fixation was used. CONCLUSIONS: External fixator axial load mechanical testing may objectively reveal and quantitatively evaluate fracture healing, so it is safe and reliable to use for guiding the external fixator removal.
10.Plasma IL-37 levels in patients with acute coronary syndrome
Ying HUANG ; Yingzhong LIN ; Ying SHI ; Zhengde LU ; Ling LIU ; Xiaoyan WANG ; Qingwei JI
The Journal of Practical Medicine 2014;(10):1559-1561
Objective To evaluate the role of plasma IL-37 levels in patients with acute coronary syndrome (ACS). Methods Plasma biomarkers IL-37, CRP and NT-proBNP levels were measured in 40 patients with stable angina pectoris (SA group), 65 patients with unstable angina pectoris (UA group), 47 patients with acute myocardial infarction (AMI group) and 60 control patients. Results The plasma IL-37, CRP and NT-proBNP levels were significantly increased in patients with ACS patients. A correlation analysis showed that the plasma IL-37 levels were positively correlated with the levels of CRP and NT-proBNP, and negatively correlated with LVEF. Conclusions The results indicated that the plasma IL-37 levels are associated with the onset of ACS symptoms.

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