1.Efficacy of non-invasive prenatal testing of fetal free DNA in maternal peripheral blood in fetuses with increased nuchal translucency
Mengyao NI ; Xiangyu ZHU ; Wei LIU ; Leilei GU ; Peixuan CAO ; Ying YANG ; Xing WU ; Chunxiang ZHOU ; Honglei DUAN ; Jie LI
Chinese Journal of Perinatal Medicine 2025;28(2):113-118
Objective:To explore the efficacy of non-invasive prenatal testing (NIPT) of fetal free DNA in maternal peripheral blood in fetuses with increased nuchal translucency (NT).Methods:A retrospective analysis was conducted on 1 184 singleton pregnant women that underwent chromosomal microarray analysis (CMA) at Nanjing Drum Tower Hospital, Nanjing University Medical School from June 2014 to December 2022 due to fetal increased NT (≥3.0 mm). These subjects were categorized based on whether the increased NT was accompanied by other high-risk factors into isolated increased NT without advanced maternal age (further subdivided into 3.0 mm≤NT<3.5 mm, 3.5 mm≤NT<4.0 mm, and NT≥4.0 mm subgroups), isolated increased NT with advanced maternal age, increased NT with nasal bone abnormalities, increased NT with other soft markers, and increased NT with structural abnormalities groups. Assuming the sensitivity and specificity of NIPT and expanded NIPT at this center were both 100%, genomic abnormalities outside the detection range of NIPT or expanded NIPT were termed as residual risk of NIPT or expanded NIPT. Chi-square test and Bonferroni correction were used to compare the residual risks of NIPT and expanded NIPT among the three subgroups of isolated increased NT without advanced maternal age group. Results:(1) In the group of isolated increased NT without advanced maternal age: For the 3.0 mm≤NT<3.5 mm subgroup (329 cases), 19 abnormalities were detected by CMA [12 cases of chromosome aneuploidy, seven cases of pathogenic copy number variation (pCNV)], with residual risks of NIPT and expanded NIPT both at 2.1% (7/329). For the 3.5 mm≤NT<4.0 mm subgroup (173 cases), 29 abnormalities were detected by CMA (17 cases of chromosome aneuploidy, nine cases of pCNV, three cases of chromosome unbalanced translocation), with residual risks of NIPT at 8.1% (14/173) and expanded NIPT at 7.5% (13/173). For the NT≥4.0 mm subgroup (270 cases), CMA detected abnormalities in 70 cases (50 cases of chromosome aneuploidy, 16 cases of pCNV, three cases of unbalanced translocations, and one case of sex chromosome abnormality combined with pCNV). The residual risk of NIPT was 12.2% (33/270), and the residual risk of expanded NIPT was 7.0% (19/270). The residual risks of NIPT and expanded NIPT in the 3.0 mm≤NT<3.5 mm subgroup were lower than those in the 3.5 mm≤NT<4.0 mm and NT≥4.0 mm subgroups (Bonferroni correction, all P<0.017). (2) In the group of 92 cases with isolated increased NT and advanced maternal age, CMA detected abnormalities in 36 cases (29 cases of chromosome aneuploidy, five cases of pCNV, one case of trisomy 21 combined with sex chromosome abnormality, and one case of trisomy 18 combined with sex chromosome abnormality). The residual risk of NIPT was 7.6% (7/92), and that of expanded NIPT was 5.4% (5/92). (3) In the group of 49 cases with increased NT combined with nasal bone abnormalities, CMA detected abnormalities in 24 cases (23 cases of chromosome aneuploidy and one case of pCNV). The residual risks of NIPT and expanded NIPT were both 2.0% (1/49). (4) In the group of 26 cases with increased NT combined with other soft markers, CMA detected abnormalities in nine cases (six cases of chromosome aneuploidy, one case of pCNV, and two cases of chromosome unbalanced translocations). The residual risks of NIPT and expanded NIPT were both 11.5% (3/26). (5) In the group of 245 cases with increased NT combined with structural abnormalities, CMA detected abnormalities in 121 cases (107 cases of chromosome aneuploidy, seven cases of pCNV, four cases of chromosome unbalanced translocations, one case of trisomy 21 combined with trisomy 20, and two cases of trisomy 18 combined with sex chromosome abnormalities). The residual risk of NIPT was 16.7% (41/245), and that of expanded NIPT was 4.1% (10/245). Conclusions:For isolated NT≥3.5 mm or NT≥3.0 mm combined with other high-risk factors, chorionic villus sampling in early pregnancy can be recommended, advancing the timing of prenatal diagnosis from the second trimester to the first trimester. For fetuses with isolated 3.0 mm≤NT<3.5 mm, the 2.1% residual risk of chromosomal abnormalities should be fully informed during counseling, even if the risk of NIPT is low.
2.Efficacy of non-invasive prenatal testing of fetal free DNA in maternal peripheral blood in fetuses with increased nuchal translucency
Mengyao NI ; Xiangyu ZHU ; Wei LIU ; Leilei GU ; Peixuan CAO ; Ying YANG ; Xing WU ; Chunxiang ZHOU ; Honglei DUAN ; Jie LI
Chinese Journal of Perinatal Medicine 2025;28(2):113-118
Objective:To explore the efficacy of non-invasive prenatal testing (NIPT) of fetal free DNA in maternal peripheral blood in fetuses with increased nuchal translucency (NT).Methods:A retrospective analysis was conducted on 1 184 singleton pregnant women that underwent chromosomal microarray analysis (CMA) at Nanjing Drum Tower Hospital, Nanjing University Medical School from June 2014 to December 2022 due to fetal increased NT (≥3.0 mm). These subjects were categorized based on whether the increased NT was accompanied by other high-risk factors into isolated increased NT without advanced maternal age (further subdivided into 3.0 mm≤NT<3.5 mm, 3.5 mm≤NT<4.0 mm, and NT≥4.0 mm subgroups), isolated increased NT with advanced maternal age, increased NT with nasal bone abnormalities, increased NT with other soft markers, and increased NT with structural abnormalities groups. Assuming the sensitivity and specificity of NIPT and expanded NIPT at this center were both 100%, genomic abnormalities outside the detection range of NIPT or expanded NIPT were termed as residual risk of NIPT or expanded NIPT. Chi-square test and Bonferroni correction were used to compare the residual risks of NIPT and expanded NIPT among the three subgroups of isolated increased NT without advanced maternal age group. Results:(1) In the group of isolated increased NT without advanced maternal age: For the 3.0 mm≤NT<3.5 mm subgroup (329 cases), 19 abnormalities were detected by CMA [12 cases of chromosome aneuploidy, seven cases of pathogenic copy number variation (pCNV)], with residual risks of NIPT and expanded NIPT both at 2.1% (7/329). For the 3.5 mm≤NT<4.0 mm subgroup (173 cases), 29 abnormalities were detected by CMA (17 cases of chromosome aneuploidy, nine cases of pCNV, three cases of chromosome unbalanced translocation), with residual risks of NIPT at 8.1% (14/173) and expanded NIPT at 7.5% (13/173). For the NT≥4.0 mm subgroup (270 cases), CMA detected abnormalities in 70 cases (50 cases of chromosome aneuploidy, 16 cases of pCNV, three cases of unbalanced translocations, and one case of sex chromosome abnormality combined with pCNV). The residual risk of NIPT was 12.2% (33/270), and the residual risk of expanded NIPT was 7.0% (19/270). The residual risks of NIPT and expanded NIPT in the 3.0 mm≤NT<3.5 mm subgroup were lower than those in the 3.5 mm≤NT<4.0 mm and NT≥4.0 mm subgroups (Bonferroni correction, all P<0.017). (2) In the group of 92 cases with isolated increased NT and advanced maternal age, CMA detected abnormalities in 36 cases (29 cases of chromosome aneuploidy, five cases of pCNV, one case of trisomy 21 combined with sex chromosome abnormality, and one case of trisomy 18 combined with sex chromosome abnormality). The residual risk of NIPT was 7.6% (7/92), and that of expanded NIPT was 5.4% (5/92). (3) In the group of 49 cases with increased NT combined with nasal bone abnormalities, CMA detected abnormalities in 24 cases (23 cases of chromosome aneuploidy and one case of pCNV). The residual risks of NIPT and expanded NIPT were both 2.0% (1/49). (4) In the group of 26 cases with increased NT combined with other soft markers, CMA detected abnormalities in nine cases (six cases of chromosome aneuploidy, one case of pCNV, and two cases of chromosome unbalanced translocations). The residual risks of NIPT and expanded NIPT were both 11.5% (3/26). (5) In the group of 245 cases with increased NT combined with structural abnormalities, CMA detected abnormalities in 121 cases (107 cases of chromosome aneuploidy, seven cases of pCNV, four cases of chromosome unbalanced translocations, one case of trisomy 21 combined with trisomy 20, and two cases of trisomy 18 combined with sex chromosome abnormalities). The residual risk of NIPT was 16.7% (41/245), and that of expanded NIPT was 4.1% (10/245). Conclusions:For isolated NT≥3.5 mm or NT≥3.0 mm combined with other high-risk factors, chorionic villus sampling in early pregnancy can be recommended, advancing the timing of prenatal diagnosis from the second trimester to the first trimester. For fetuses with isolated 3.0 mm≤NT<3.5 mm, the 2.1% residual risk of chromosomal abnormalities should be fully informed during counseling, even if the risk of NIPT is low.
3.Consensus statement on research and application of Chinese herbal medicine derived extracellular vesicles-like particles (2023 edition).
Qing ZHAO ; Tong WANG ; Hongbin WANG ; Peng CAO ; Chengyu JIANG ; Hongzhi QIAO ; Lihua PENG ; Xingdong LIN ; Yunyao JIANG ; Honglei JIN ; Huantian ZHANG ; Shengpeng WANG ; Yang WANG ; Ying WANG ; Xi CHEN ; Junbing FAN ; Bo LI ; Geng LI ; Bifeng LIU ; Zhiyang LI ; Suhua QI ; Mingzhen ZHANG ; Jianjian ZHENG ; Jiuyao ZHOU ; Lei ZHENG ; Kewei ZHAO
Chinese Herbal Medicines 2024;16(1):3-12
To promote the development of extracellular vesicles of herbal medicine especially the establishment of standardization, led by the National Expert Committee on Research and Application of Chinese Herbal Vesicles, research experts in the field of herbal medicine and extracellular vesicles were invited nationwide with the support of the Expert Committee on Research and Application of Chinese Herbal Vesicles, Professional Committee on Extracellular Vesicle Research and Application, Chinese Society of Research Hospitals and the Guangdong Engineering Research Center of Chinese Herbal Vesicles. Based on the collation of relevant literature, we have adopted the Delphi method, the consensus meeting method combined with the nominal group method to form a discussion draft of "Consensus statement on research and application of Chinese herbal medicine derived extracellular vesicles-like particles (2023)". The first draft was discussed in online and offline meetings on October 12, 14, November 2, 2022 and April and May 2023 on the current status of research, nomenclature, isolation methods, quality standards and research applications of extracellular vesicles of Chinese herbal medicines, and 13 consensus opinions were finally formed. At the Third Academic Conference on Research and Application of Chinese Herbal Vesicles, held on May 26, 2023, Kewei Zhao, convenor of the consensus, presented and read the consensus to the experts of the Expert Committee on Research and Application of Chinese Herbal Vesicles. The consensus highlights the characteristics and advantages of Chinese medicine, inherits the essence, and keeps the righteousness and innovation, aiming to provide a reference for colleagues engaged in research and application of Chinese herbal vesicles at home and abroad, decode the mystery behind Chinese herbal vesicles together, establish a safe, effective and controllable accurate Chinese herbal vesicle prevention and treatment system, and build a bridge for Chinese medicine to the world.
4.Influence of maternal autoimmune diseases and anticoagulants on fetal fraction of maternal plasma cell-free DNA
Xuemei CHEN ; Honglei DUAN ; Wanjun WANG ; Ying ZHANG ; Xiangyu ZHU ; Xing WU ; Ying YANG ; Peixuan CAO ; Mengyao NI ; Zihan JIANG ; Biyun XU ; Jie LI
Chinese Journal of Perinatal Medicine 2024;27(6):450-456
Objective:To investigate the influence of maternal autoimmune diseases and anticoagulants, including low-molecular-weight heparin (LMWH) and aspirin, on the fetal fraction of maternal plasma cell-free DNA of non-invasive prenatal testing (NIPT).Methods:A prospective cohort study was conducted on women with singleton pregnancies receiving NIPT in the Nanjing Drum Tower Hospital from March 2021 to July 2022. NIPT was carried out using a polymerase chain reaction (PCR)-free amplification platform. In this study, four types of maternal autoimmune diseases, which were antiphospholipid syndrome, undifferentiated connective tissue disease, Sj?gren's syndrome, and systemic lupus erythematosus (SLE), and two anticoagulants, LMWH and aspirin, were studied. Univariate and multivariate linear regression models were used to analyze the factors influencing fetal fraction of maternal plasma cell-free DNA.Results:A total of 4 102 singleton pregnant women were enrolled in the prospective cohort, and 3 948 were finally included after excluding the cases with unclear dosing time of LMWH or aspirin, other autoimmune diseases, conceiving through ovulation induction alone, and having true positive or failed NIPT result. There were 96 cases with antiphospholipid syndrome, 35 with undifferentiated connective tissue disease, 34 with Sj?gren's syndrome, and 18 with SLE. A total of 108 patients only received LMWH treatment, 121 only received aspirin treatment, and 113 received both LMWH and aspirin treatment. Univariate linear regression analysis showed that maternal body mass index at blood collection ( B=-0.423), conceived by assisted reproductive technology ( B=-0.803), male fetus ( B=-0.458), undifferentiated connective tissue disease ( B=1.774), and SLE ( B=3.467) had influence on the fetal fraction (all P<0.05). Multivariate linear regression analysis showed that maternal body mass index at blood collection ( B=-0.415), conceived by assisted reproductive technology ( B=-0.585), male fetus ( B=-0.322), SLE ( B=3.347) and undifferentiated connective tissue disease ( B=1.336) were factors influencing fetal fraction (all P<0.05). Conclusions:Maternal use of LMWH or aspirin does not affect fetal fraction when performing NIPT on a PCR-free amplification platform, but undifferentiated connective tissue disease and SLE are the influencing factors. Therefore, pregnant women should be informed before the NIPT that the fetal fraction of maternal plasma cell-free DNA may be affected by maternal autoimmune diseases.
5.Management status analysis of Investigator-Initiated Trials in Shandong provincial medical and health institutions
Linying MA ; Jianmei JI ; Honglei LI ; Xinxin LU ; Lili CAO
Chinese Journal of Medical Science Research Management 2023;36(5):395-400
Objective:To analyze the current situation of Investigator-Initiated Trials in medical and health institutions in Shandong Province, the problems in the process of conducting clinical research, and put forward proposals for the establishment of a clinical research management system with effective supervision, sound systems and supporting services, taking into account the progress of the projects since the pilot work was carried out.Methods:A questionnaire was created, an online survey was conducted, a database was set up, a status analysis was conducted and a post-launch analysis of the progress of the pilot was carried out using the National Medical Research Registry Information System, culminating in recommendations using the literature summary method and empirical analysis.Results:Statistical analysis of the questionnaire found that 29.39% of the institutions have a dedicated clinical research management department, and 75.97% of the institutions have a management approach. 25.52%, 40.30%, and 43.07% of institutions established biobanks, clinical research centers, and follow-up centers. There was a statistically significant difference in the establishment of clinical research centers, biobanks, and follow-up centers in secondary and tertiary medical institutions ( P<0.05). The number of general clinical research projects filed, the number of submissions and the number of ethics committees filed in the filing system have all increased significantly after the pilot work, with growth percentages of 126%, 141% and 62% respectively. Conclusions:Shandong Province clinical research pilot work has begun to bear fruit, the current clinical research project still exists in the lack of special funding support, perfect service platform and system support and training system to be improved and other issues.
6.Referred Somatic Hyperalgesia Mediates Cardiac Regulation by the Activation of Sympathetic Nerves in a Rat Model of Myocardial Ischemia.
Xiang CUI ; Guang SUN ; Honglei CAO ; Qun LIU ; Kun LIU ; Shuya WANG ; Bing ZHU ; Xinyan GAO
Neuroscience Bulletin 2022;38(4):386-402
Myocardial ischemia (MI) causes somatic referred pain and sympathetic hyperactivity, and the role of sensory inputs from referred areas in cardiac function and sympathetic hyperactivity remain unclear. Here, in a rat model, we showed that MI not only led to referred mechanical hypersensitivity on the forelimbs and upper back, but also elicited sympathetic sprouting in the skin of the referred area and C8-T6 dorsal root ganglia, and increased cardiac sympathetic tone, indicating sympathetic-sensory coupling. Moreover, intensifying referred hyperalgesic inputs with noxious mechanical, thermal, and electro-stimulation (ES) of the forearm augmented sympathetic hyperactivity and regulated cardiac function, whereas deafferentation of the left brachial plexus diminished sympathoexcitation. Intradermal injection of the α2 adrenoceptor (α2AR) antagonist yohimbine and agonist dexmedetomidine in the forearm attenuated the cardiac adjustment by ES. Overall, these findings suggest that sensory inputs from the referred pain area contribute to cardiac functional adjustment via peripheral α2AR-mediated sympathetic-sensory coupling.
Animals
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Ganglia, Spinal
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Hyperalgesia/etiology*
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Myocardial Ischemia/complications*
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Pain, Referred/complications*
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Rats
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Sympathetic Nervous System
7.Evaluation of laparoscopic endoscopic cooperative dissection without mucosa injury for small gastric stromal tumor
Lei CAO ; Honglei WANG ; Kunming ZHENG ; Yu WANG ; Zhengduo YANG ; Yongjie ZHAO ; Wen LI
Chinese Journal of Digestive Endoscopy 2017;34(9):649-652
Objective To investigate the feasibility of laparoscopic endoscopic cooperative dissection without mucosa injury for patients with small gastric stromal tumor. Methods Fifteen patients with small gastric stromal tumor underwent laparoscopy and endoscopy combination therapy from January 2015 to October 2016. The gastric serous layer was cut open after submucosal injection, and then tumor was removed without mucosa injury under laparoscope. The clinical data were retrospectively analyzed. Results All of the 15 patients successfully completed the operation,and no one conversed to open surgery because of intraoperative complications. The operation time was 53.4±15.8 min, and the intraoperative blood loss was 15.2±3.5 mL. The gastric tube was pulled out on the day of operation.The mean time of recovering liquid diet after operation was 1.6±0.5 days, and the length of postoperative hospital stay was 3.3 ± 0.6 days. All the specimen had complete pseudocapsule,and their pathology results were all gastric stromal tumors,including 12 cases of very low risk degree, 2 low risk degree, and 1 middle risk degree. Conclusion Laparoscopic endoscopic cooperative dissection for small gastric stromal tumor has satisfactory short-term outcomes and shows a quick postoperative recovery,which meets the idea of minimally invasive surgery and rapid recovery. It is a new choice of treatment for patients with small gastric stromal tumor.
8.Nursing care of one hemaphagocytic syndrome patient combined with skin lesions after haploidentical hematopoietic stem cell transplantation:a case study
Xiaodong XU ; Yanchao CAO ; Xiaolin LIU ; Jianmei ZHANG ; Honglei WANG ; Xin WANG ; Qianqian FENG ; Xia YAN
Chinese Journal of Nursing 2017;52(5):586-588
The nursing experience of one hemaphagocytic syndrome patient with skin damage complication who underwent haploidentical hematopoietic stem cell transplantation were summarized. The patients gradually appeared ulceration of elbow joint skin, perianal mucosa, and bilateral axillary skin during the phase of agranulocytopenia and immune inhibition after transplantation. The overall skin ulceration area was accounted for 13% of total body surface area. We chose different dressings, combination anti-infection with promoting wound healing for nursing and achieved great effect. The skin lesions gradually healed and the patient went to the general ward successfully.
9.Effect of bile reinfusion via nasojejunal tube on liver function after biliary tract surgery
Shunmao MA ; Honglei LIU ; Yonghong LIU ; Yanjun PENG ; Ruifeng REN ; Bin CAO
Chinese Journal of Postgraduates of Medicine 2017;40(9):788-790
Objective To discuss the clinical value of bile reinfusion via nasojejunal tube on liver function after biliary tract surgery. Methods Eighty patients with biliary tract surgery and bile outer drainage were divided into bile reinfusion group and control group by random digits table method with 40 cases each. The clinical data concerning the liver function and volume of biliary drainage were collected. Results The patients were well tolerated for bile reinfusion, and abdominal distension, nausea and vomiting occurred in some patients. The symptoms improved significantly after symptomatic treatment. The alanine aminotransferase (ALT) and total bilirubin (TBIL) levels at the fifth day after operation in bile reinfusion group were significantly reduced than those in control group:(31 ± 18) U/L vs. (48 ± 32) U/L and (51 ± 32)μmol/L vs. (76 ± 38)μmol/L, the aspartate aminotransferase (AST) and ALT levels at the seventh day after operation in bile reinfusion group were significantly reduced than those in control group: (32 ± 19) U/L vs. (43 ± 26) U/L and (20 ± 19) U/L vs. (31 ± 22) U/L, and there were statistical differences (P<0.05). The volume of biliary drainage in the bile reinfusion group was significantly increased compared with that in control group at the third and fourth day after operation:(485 ± 52) ml vs. (428 ± 96) ml and (509 ± 62) ml vs. (458 ± 59) ml, and there was statistical difference (P<0.01). Conclusions Bile reinfusion via the nasojejunal tube may facilitate the recovery of liver function after biliary tract surgery.
10.Analysis of colorectal cancer screening practices in the general population of Tianjin
Lizhong ZHAO ; Weihua ZHANG ; Dongwang MA ; Wen LI ; Yajing CAO ; Honglei WANG ; Chen XU ; Songli SHI ; Junhui HEI ; Ximo WANG
Chinese Journal of Clinical Oncology 2015;(15):760-764
Objective:Colorectal cancer screening was performed on a general population with age ranging between 40 and 74 years old to evaluate the screening effects of questionnaire survey, fecal occult blood (FOB) test, and colonoscopy, as well as to provide some implications of colorectal cancer screening strategies. Methods: Two-step screening model of questionnaire survey combined with FOB test was applied for the screening. Colonoscopy was conducted in a high-risk population identified through preliminary screening as final diagnosis. Results:Based on the 2,117,304 cases screened, the screening compliance was 39.72%, and 126,118 cases (5.96%) were identified as high risk. Colonoscopies were performed on 25,837 cases, of which 8,095, 1,236, 134, 112, and 336 were identified as adenoma, advanced adenoma, severe dysplasia lesions, early cancer, and advanced cancer, respectively. The early stage di-agnostic rate was 81.52%. Conclusion:The colorectal cancer screening method performed in Tianjin can significantly concentrate on the high-risk population with colorectal cancer, increase the positivity rate of total colonoscopy, and economize medical resources.

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