1.Development and application of a digital PCR-based assay for rapid diagnosis of common fetal chromosomal aneuploidies
Xuejiao CHEN ; Yanfeng YANG ; Yuanyuan YING ; Feiyan PAN ; Zhiqiang GU ; Weimeng JIAO ; Zehang HE ; Huihui XU
Chinese Journal of Medical Genetics 2025;42(5):592-596
Objective:To assess the clinical value of digital PCR (dPCR) for the prenatal diagnosis of common fetal aneuploidies.Methods:A dPCR-based assay was developed for detecting trisomies 21, 18, and 13. A retrospective analysis was carried out on 173 amniotic fluid samples collected by the Prenatal Diagnosis Center of Taizhou Hospital between January 2017 and December 2023. By using chromosomal karyotyping as the gold standard, the diagnostic performance of the multiplex dPCR system was evaluated in a double-blind manner. This study has been approved by the Ethics Committee of Taizhou Hospital (Ethics No. K20250339).Results:Chromosomal karyotyping has identified 59 cases of trisomy 21, 5 cases of trisomy 18, 2 cases of trisomy 13, 6 cases with chromosomal structural abnormalities or mosaicisms, and 101 cases with a normal karyotype. The dPCR results ( Z-score cutoff = 4.0, CI = 99.997%) showed full concordance with karyotyping (sensitivity = 100%, specificity = 100%, Kappa = 1). Among the 6 structurally abnormal or mosaicism samples, dPCR has accurately detected 4 cases, but mis-classified 2 cases of trisomy 21 with very low-level mosaicisms (3.3%, 6.9%, respectively) as normal. Conclusion:The established multiplex dPCR system demonstrated high diagnostic accuracy for common chromosomal aneuploidies, with results available within 24 hours. It can serve as an efficient supplementary tool to conventional chromosomal karyotyping, providing reliable support for time-sensitive clinical decision-making in prenatal diagnosis.
2.Development and application of a digital PCR-based assay for rapid diagnosis of common fetal chromosomal aneuploidies.
Xuejiao CHEN ; Yanfeng YANG ; Yuanyuan YING ; Feiyan PAN ; Zhiqiang GU ; Weimeng JIAO ; Zehang HE ; Huihui XU
Chinese Journal of Medical Genetics 2025;42(5):592-596
OBJECTIVE:
To assess the clinical value of digital PCR (dPCR) for the prenatal diagnosis of common fetal aneuploidies.
METHODS:
A dPCR-based assay was developed for detecting trisomies 21, 18, and 13. A retrospective analysis was carried out on 173 amniotic fluid samples collected by the Prenatal Diagnosis Center of Taizhou Hospital between January 2017 and December 2023. By using chromosomal karyotyping as the gold standard, the diagnostic performance of the multiplex dPCR system was evaluated in a double-blind manner. This study has been approved by the Ethics Committee of Taizhou Hospital (Ethics No. K20250339).
RESULTS:
Chromosomal karyotyping has identified 59 cases of trisomy 21, 5 cases of trisomy 18, 2 cases of trisomy 13, 6 cases with chromosomal structural abnormalities or mosaicisms, and 101 cases with a normal karyotype. The dPCR results (Z-score cutoff = 4.0, CI = 99.997%) showed full concordance with karyotyping (sensitivity = 100%, specificity = 100%, Kappa = 1). Among the 6 structurally abnormal or mosaicism samples, dPCR has accurately detected 4 cases, but mis-classified 2 cases of trisomy 21 with very low-level mosaicisms (3.3%, 6.9%, respectively) as normal.
CONCLUSION
The established multiplex dPCR system demonstrated high diagnostic accuracy for common chromosomal aneuploidies, with results available within 24 hours. It can serve as an efficient supplementary tool to conventional chromosomal karyotyping, providing reliable support for time-sensitive clinical decision-making in prenatal diagnosis.
Humans
;
Female
;
Pregnancy
;
Aneuploidy
;
Prenatal Diagnosis/methods*
;
Karyotyping
;
Retrospective Studies
;
Polymerase Chain Reaction/methods*
;
Chromosome Disorders/genetics*
;
Adult
;
Trisomy 13 Syndrome/diagnosis*
;
Trisomy 18 Syndrome/genetics*
;
Down Syndrome/genetics*
3.Development and application of a digital PCR-based assay for rapid diagnosis of common fetal chromosomal aneuploidies
Xuejiao CHEN ; Yanfeng YANG ; Yuanyuan YING ; Feiyan PAN ; Zhiqiang GU ; Weimeng JIAO ; Zehang HE ; Huihui XU
Chinese Journal of Medical Genetics 2025;42(5):592-596
Objective:To assess the clinical value of digital PCR (dPCR) for the prenatal diagnosis of common fetal aneuploidies.Methods:A dPCR-based assay was developed for detecting trisomies 21, 18, and 13. A retrospective analysis was carried out on 173 amniotic fluid samples collected by the Prenatal Diagnosis Center of Taizhou Hospital between January 2017 and December 2023. By using chromosomal karyotyping as the gold standard, the diagnostic performance of the multiplex dPCR system was evaluated in a double-blind manner. This study has been approved by the Ethics Committee of Taizhou Hospital (Ethics No. K20250339).Results:Chromosomal karyotyping has identified 59 cases of trisomy 21, 5 cases of trisomy 18, 2 cases of trisomy 13, 6 cases with chromosomal structural abnormalities or mosaicisms, and 101 cases with a normal karyotype. The dPCR results ( Z-score cutoff = 4.0, CI = 99.997%) showed full concordance with karyotyping (sensitivity = 100%, specificity = 100%, Kappa = 1). Among the 6 structurally abnormal or mosaicism samples, dPCR has accurately detected 4 cases, but mis-classified 2 cases of trisomy 21 with very low-level mosaicisms (3.3%, 6.9%, respectively) as normal. Conclusion:The established multiplex dPCR system demonstrated high diagnostic accuracy for common chromosomal aneuploidies, with results available within 24 hours. It can serve as an efficient supplementary tool to conventional chromosomal karyotyping, providing reliable support for time-sensitive clinical decision-making in prenatal diagnosis.
4.Comparative analysis of domestic Octoparms and imported Celect inferior vena cava filter in interventional treatment of venous thromboembolism
Jinchang XIAO ; Qianxin HUANG ; Jing YANG ; Mingming JIANG ; Ning WEI ; Hongtao LIU ; Yanfeng CUI ; Yuming GU ; Maoheng ZU ; Hao XU ; Qingqiao ZHANG
Journal of Practical Radiology 2024;40(3):456-459,463
Objective To compare and analyze the application value of domestic Octoparms and imported Celect inferior vena cava filter(IVCF)in the interventional treatment of venous thromboembolism(VTE).Methods Forty patients with VTE were randomly divided into Octoparms group(experimental group)and Celect group(control group)according to the double-blinded method of the central random system.All the patients underwent filter placement,catheter-directed thrombolysis and filter retrieval.The primary end point was the success of filter placement and retrieval,and the secondary end point included indwelling complications such as the occurrence of pulmonary embolism(PE)and filter tilt and migration.Results Forty patients were enrolled in this study,22 patients and 18 patients were divided into the experimental group and the control group,respectively.Among them,11 cases were identified with right lower extremity deep vein thrombosis,29 cases with left lower extremity deep vein thrombosis,17 cases with PE,and 6 cases with inferior vena cava thrombosis.The success rate of IVCF placement was 100%in all participants.Immediately after filter place-ment,the angle of filter tilt was(3.8±2.3)° in the experimental group and(4.9±2.8)° in the control group(t=1.44,P=0.16).Filter retrieval was successful in 21 cases(21/22,95.5%)of the experimental group and 17 cases(17/18,95.5%)of the control group.There was no significant difference between the two groups(t=0.14,P=0.89).The mean indwelling time of filter was(8.0±2.1)days in the experimental group and(9.7±3.1)days in the control group(t=0.73,P=0.47).The angle of filter tilt was(5.3±3.4)° in the experimental group and(5.7±7.7)° in the control group(t=0.19,P=0.85).There was no significant difference for filter placement and retrieval between the two groups(t=0.48 and 2.00,P=0.06 and 0.64,respectively).There were no complications of filter migration,strut penetration or new PE in both groups.Conclusion The application value of domestic Octoparms and impor-ted Celect IVCF is similar in interventional treatment of VTE.
5.Discussion on the prescription thinking of infertility based on"primarily sweet,with all four flavours harmonized"in Fu Qingzhu's Obstetrics and Gynecology
Ruonan QIANG ; Yanfeng LIU ; Qing XIA ; Yuanye GU ; Huanan ZHANG ; Jiayi LIANG ; Xuan ZHANG
Journal of Beijing University of Traditional Chinese Medicine 2024;47(7):977-982
The combination of sourness,bitterness,sweetness,pungency,and saltness results in different effects.Through the analysis of the theory of combining five flavours in Fu Qingzhu's Obstetrics and Gynecology,this article explores its application in formulation ideas and the characteristics of Chinese medication,summarized as"primarily sweet,with all four flavors harmonized".FU Qingzhu emphasizes the central role of sweet-flavour medicine in facilitating conception,while incorporating the other four flavours in synergy.For instance,sweet and pungent flavours can boost yang energy,eliminating chilliness and warming the uterus;sour and sweet flavours can nourish yin essence and protect the uterus;bitter and sweet flavours can tonify yin,supporting the kidneys and moistening the uterus;and pungent and salty flavours can eliminate stasis,regenerate blood,and enhance uterine functions.By flexibly utilizing the flavours and meridian affinity of traditional Chinese medicine,along with the theory of combining five flavours,it is possible to enhance drug compatibility,deepen the theoretical connotation of Chinese formulas,and regulate the uterus from both yin and yang aspects to facilitate conception.FU Qingzhu's integration of multiple Chinese formulas into a single formula allows for comprehensive treatment.Clear differentiation of dosages within the formula highlights the primary and secondary relationships of traditional Chinese medicines.Additionally,the utilization of pharmaceutical processing techniques optimizes efficacy and regulates meridians and collaterals.This article explores FU Qingzhu's application of the"pure and harmonious traditional Chinese medicines"theory.His prescription thinking enables the attainment of multi-level therapeutic effects,which greatly benefits the optimization of traditional Chinese medicine fertility assistance programs and increases pregnancy rates among infertility patients.
6.Influence of Tuina plus oxiracetam on serum inflammatory factors and oxidative stress in mild vascular dementia patients
Nan GU ; Yuexian FAN ; Ling ZHOU ; Yan ZHANG ; Weijie BAI ; Yanfeng LI ; Liyun YANG ; Jinlong LI ; Jue HONG
Journal of Acupuncture and Tuina Science 2022;20(4):273-280
Objective: To observe the clinical efficacy of Tuina (Chinese therapeutic massage) plus oxiracetam in treating mild vascular dementia (VD) and seek its underlying mechanism. Methods: Ninety-six patients with mild VD were randomized into an observation group and a control group, with 47 cases in the observation group and 49 cases in the control group. The control group received oral oxiracetam capsules for treatment, and the observation group was given additional Tuina treatment. Before and after treatment, the mini-mental state examination (MMSE) was adopted to assess the patient's cognitive function; the activities of daily living (ADL) scale was used to evaluate their ability to conduct daily activities; changes in the serum inflammatory factors and oxidative stress indicators were also detected. Results: After treatment, the serum content of malondialdehyde (MDA) decreased in both groups (P<0.05) and was lower in the observation group than in the control group (P<0.05); the serum contents of superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) increased in both groups (P<0.05) and were higher in the observation group than in the control group (P<0.05); the serum contents of interleukin (IL)-1, tumor necrosis factor (TNF)-α, IL-6, and IL-8 declined in both groups (P<0.05) and were lower in the observation group than in the control group (P<0.05). After the intervention, the levels of systolic velocity (Vs) and mean velocity (Vm) of the middle cerebral artery elevated, and the pulsatility index (PI) dropped in patients in the two groups, showing significant intra-group differences (P<0.05); the levels of Vs and Vm in the observation group were higher than those in the control group, and the PI was lower in the observation group than in the control group, showing significant between-group differences (P<0.05). The MMSE and ADL scores increased in both groups after the intervention (P<0.05) and were higher in the observation group than in the control group (P<0.05). Conclusion: In the treatment of mild VD, Tuina plus oxiracetam can improve the cerebral blood supply, ADL, and cognitive function; the mechanism may be associated with the reduction of oxidative stress damages and inflammatory reactions.
7.Status and influencing factors of knowledge, attitude and practice and influencing factors of catheter-associated urinary tract infections prevention and control among community nurses in Pudong New Area in Shanghai
Xiujun MA ; Xiaomei WEI ; Yanfeng GU ; Fei PENG
Chinese Journal of Modern Nursing 2022;28(9):1177-1183
Objective:To understand the current situation of knowledge, attitude and practice in the prevention and control of catheter-associated urinary tract infections (CAUTI) among community nurses in Pudong New Area in Shanghai and analyze influencing factors, so as to provide a basis for better community-based CAUTI prevention and control.Methods:Using the stratified random sampling method, a total of 286 community nurses from 4 areas in Pudong New Area in Shanghai were selected as the research objects from April to June 2021. The community nurses were surveyed by general information questionnaire, training situation questionnaire and CAUTI Prevention Knowledge, Attitude and Practice Scale. Univariate analysis and multiple linear regression were used to analyze the current situation and influencing factors of CAUTI prevention and control knowledge, attitude and practice among community nurses. Pearson correlation analysis was used to explore the correlations between knowledge, attitude and practice of CAUTI prevention and control among community nurses.Results:A total of 286 questionnaires were sent out and 283 valid questionnaires were recovered, with the effective recovery rate of 98.95%. Only 52.30% (148/283) community nurses had participated in CAUTI related training. The scores of CAUTI prevention and control knowledge, attitude and practice of community nurses were (85.04±5.31) , (23.28±2.73) and (21.39±2.07) , respectively. Univariate analysis showed that there were statistically significant differences in CAUTI prevention and control knowledge, attitude and practice scores among community nurses with different working years, professional titles, age, whether or not to train, training forms and training times ( P<0.01) . Multiple linear regression analysis showed that professional title and training frequency were the influencing factors of CAUTI prevention and control knowledge and practice of community nurses ( P<0.05) . Pearson correlation analysis showed that there were positive correlations between CAUTI prevention and control knowledge and attitude ( r=0.555, P<0.01) , knowledge and practice ( r=0.501, P<0.01) and attitude and practice ( r=0.417, P<0.01) . Conclusions:The level of CAUTI prevention and control knowledge, attitude and practice of community nurses in Pudong New Area in Shanghai needs to be improved and CAUTI-related training needs to be strengthened urgently. Medical institutions should actively carry out targeted CAUTI prevention and control knowledge training and assessment, improve CAUTI prevention and control knowledge reserves of community nurses, update prevention and control concepts, enhance community nurses' initiative and confidence in prevention and control, correctly implement various prevention and control measures and actively give play to the role of community nurses in the prevention and control of CAUTI.
8. Consistency of ALK Ventana-D5F3 immunohistochemistry interpretation in lung adenocarcinoma among Chinese histopathologists
Lin LI ; Liping ZHANG ; Yuchen HAN ; Weiya WANG ; Yan JIN ; Qingxin XIA ; Yueping LIU ; Jin XIANG ; Chao LIU ; Shanshan LU ; Wei WU ; Zhen CHEN ; Juan PANG ; Yanfeng XI ; Yushuang ZHENG ; Dongmei GU ; Jun FAN ; Xiaona CHANG ; Weiwei WANG ; Liang WANG ; Zhihong ZHANG ; Xiaochu YAN ; Yi SUN ; Ji LI ; Feng HOU ; Jingyuan ZHANG ; Rongfang HUANG ; Jianping LU ; Zheng WANG ; Yongbin HU ; Hongtu YUAN ; Yujie DONG ; Lu WANG ; Zhenyu KE ; Jingshu GENG ; Lei GUO ; Jing ZHANG ; Jianming YING
Chinese Journal of Pathology 2019;48(12):921-927
Objective:
To understand the consistency of ALK Ventana-D5F3 immunohistochemistry (IHC) interpretation in Chinese lung adenocarcinoma among histopathologists from different hospitals, and to recommend solution for the problems found during the interpretation of ALK IHC in real world, with the aim of the precise selection of patients who can benefit from ALK targeted therapy.
Methods:
This was a multicenter and retrospective study. A total of 109 lung adenocarcinoma cases with ALK Ventana-D5F3 IHC staining were collected from 31 lung cancer centers in RATICAL research group from January to June in 2018. All cases were scanned into digital imaging with Ventana iSCANcoreo Digital Slide Scanning System and scored by 31 histopathologists from different centers according to ALK binary (positive or negative) interpretation based on its manufacturer′s protocol. The cases with high inconsistency rate were further analyzed using FISH/RT-PCR/NGS.
Results:
There were 49 ALK positive cases and 60 ALK negative cases, confirmed by re-evaluation by the specialist panel. Two cases (No. 2302 and No.2701) scored as positive by local hospitals were rescored as negative, and were confirmed to be negative by RT-PCR/FISH/NGS. The false interpretation rate of these two cases was 58.1% (18/31) and 48.4% (15/31), respectively. Six out of 31 (19.4%) pathologists got 100% accuracy. The minimum consistency between every two pathologists was 75.8%.At least one pathologist gave negative judgement (false negative) or positive judgement (false positive) in the 49 positive or 60 negative cases, accounted for 26.5% (13/49), 41.7% (25/60), respectively, with at least one uncertainty interpretation accounted for 31.2% (34/109).
Conclusion
There are certain heterogeneities and misclassifications in the real world interpretation of ALK-D5F3 IHC test, which need to be guided by the oncoming expert consensus based on the real world data.
9.Roles of the toll-like receptor 4-induced interleukin-18 in acute lung injury induced by seawater drowning
Yanfang LIU ; Yan GU ; Jie ZHU ; Yanfeng WU
Chinese journal of nautical medicine and hyperbaric medicine 2018;25(3):142-145
Objective To explore the roles of interleukin-18 (IL-18) in acute lung injury induced by seawater drowning (SW-ALI).Methods Following development of the SW-ALI model,24 male C57 mice were randomly divided into 4 groups,each consisting of 6 animals.Then,lung,serum and bronchoalveolar lavage fluid (BALF) samples of each group were collected at 0,4,8 and 12 h time points.The mRNA expression levels of IL-18 and toll-like receptor 4 (TLR4) were detected by quantitative PCR.The expression of IL-18 in serum and BALF was detected by enzyme linked immunosorbent assay (ELISA).To investigate the effect of TLR4 on the secretion of IL-18,8 TLR4-/-mice were chosen and were designated as the TLR4-/-group,meanwhile another 8 normal C57 mice were selected and were designated as the WT group to develop the SW-ALI model,and 12 hours later,IL-18 level was detected by ELISA.Then,12 male mice were randomly divided into 3 groups:the normal control group,the SW-ALI group and the SW-ALI + IL-18BP group.The animals in the control group were left there intact,but the animals in the SW-ALI + IL-18BP group were injected in tail vein with IL-18BP at a dosage of 0.5 mg/kg,4 and 8 hours after development of the SW-ALI model,and the animals in the SW-ALI group were injected with the same amount of PBS,but without IL-18BP injection after development of the SW-ALI model.Twenty-four hours later,HE staining was performed for the detection of pathological changes in the lungs of the mice of each group.Results Following development of the SW-ALI model and with the elapse of time,the mRNA expression of IL-18 and TLR4 in the lungs and the level of IL-18 in serum and BALF gradually increased.As compared with that of the wild C57 mice,the secretion of IL-18 in the TLR4-deficient mice obviously reduced,after development of the SW-ALI model.The IL-18-binding protein in IL-18BP could compromise IL-18 and obviously inhibit lung inflammation induced by SW-ALI.Conclusions From the mouse SW-ALI model,we can see that the expression of IL-18 would be increased with the progress of the disease and was associated with the activation of TLR4.IL-18BP treatment can alleviate lung inflammation response caused by SW-ALI.
10.Roles of the toll-like receptor 4-induced interleukin-18 in acute lung injury induced by seawater drowning
Yanfang LIU ; Yan GU ; Jie ZHU ; Yanfeng WU
Chinese journal of nautical medicine and hyperbaric medicine 2018;25(3):142-145
Objective To explore the roles of interleukin-18 (IL-18) in acute lung injury induced by seawater drowning (SW-ALI).Methods Following development of the SW-ALI model,24 male C57 mice were randomly divided into 4 groups,each consisting of 6 animals.Then,lung,serum and bronchoalveolar lavage fluid (BALF) samples of each group were collected at 0,4,8 and 12 h time points.The mRNA expression levels of IL-18 and toll-like receptor 4 (TLR4) were detected by quantitative PCR.The expression of IL-18 in serum and BALF was detected by enzyme linked immunosorbent assay (ELISA).To investigate the effect of TLR4 on the secretion of IL-18,8 TLR4-/-mice were chosen and were designated as the TLR4-/-group,meanwhile another 8 normal C57 mice were selected and were designated as the WT group to develop the SW-ALI model,and 12 hours later,IL-18 level was detected by ELISA.Then,12 male mice were randomly divided into 3 groups:the normal control group,the SW-ALI group and the SW-ALI + IL-18BP group.The animals in the control group were left there intact,but the animals in the SW-ALI + IL-18BP group were injected in tail vein with IL-18BP at a dosage of 0.5 mg/kg,4 and 8 hours after development of the SW-ALI model,and the animals in the SW-ALI group were injected with the same amount of PBS,but without IL-18BP injection after development of the SW-ALI model.Twenty-four hours later,HE staining was performed for the detection of pathological changes in the lungs of the mice of each group.Results Following development of the SW-ALI model and with the elapse of time,the mRNA expression of IL-18 and TLR4 in the lungs and the level of IL-18 in serum and BALF gradually increased.As compared with that of the wild C57 mice,the secretion of IL-18 in the TLR4-deficient mice obviously reduced,after development of the SW-ALI model.The IL-18-binding protein in IL-18BP could compromise IL-18 and obviously inhibit lung inflammation induced by SW-ALI.Conclusions From the mouse SW-ALI model,we can see that the expression of IL-18 would be increased with the progress of the disease and was associated with the activation of TLR4.IL-18BP treatment can alleviate lung inflammation response caused by SW-ALI.

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