1.Analysis of karyotype and copy number variation in 386 fetuses with increased nuchal translucency
Yan TANG ; Shoulian LU ; Shengnan SONG ; Jue WANG ; Mingzhu MIAO
Chinese Journal of Clinical Laboratory Science 2025;43(2):98-101
Objective To investigate the karyotypes and the correlation of chromosomal abnormalities in the fetuses with increased nu-chal translucency(NT),so as to provide a basis for prenatal genetic counseling.Methods The clinical data of 386 singleton pregnant women with NT≥2.5mm who underwent invasive prenatal diagnosis at the First Affiliated Hospital of Nanjing Medical University from January 2018 to April 2022 were retrospectively analyzed.The fetuses were grouped according to NT thickness(2.5-3.4,3.5-3.9,4.0-4.9,5.0-5.9,and ≥6.0 mm),fetal ultrasound abnormalities(isolated increased NT,non-isolated increased NT),and maternal age(advanced age ≥35 years,non-advanced age<35 years).The chi-square test was used to compare the differences of the incidence of fetal chromosomal abnormalities among various groups.Results Among the 386 fetuses with increased NT,chromosomal abnormalities were detected in 87 cases with an overall detection rate of 22.5%(87/386),including chromosomal numerical abnormalities accounted for 82.8%(72/87)and copy number variations(CNVs)accounted for 17.2%(15/87).The detection rates of chromosomal abnormal-ities and numerical abnormalities increased with NT thickness(P<0.05),while no statistically significant difference of CNV abnormali-ty rates was found(P=0.41).The detection rates of chromosomal abnormalities(36.5%)and CNV abnormalities(14.1%)in the non-isolated increased NT group were significantly higher than those in the isolated increased NT group(18.6%and 1.0%,respective-ly,both P<0.05).The detection rates of chromosomal abnormalities(34.7%)and numerical abnormalities(31.6%)in the fetuses of advanced maternal age mothers with increased NT were significantly higher than those in the non-advanced age group(18.4%and 14.2%,respectively,both P<0.05).However,the difference of CNV abnormality rates between the two groups was not statistically sig-nificant(P=0.62).Conclusion The detection rate of fetal chromosomal abnormalities elevated with increased NT thickness.Ad-vanced maternal age and the presence of other ultrasound abnormalities were the high-risk factors for fetal chromosomal abnormalities.The risks of CNV abnormalities may not be significantly correlated with NT thickness or maternal age but associated with the presence of other ultrasound abnormalities.
2.Association between body roundness index and hyperuricemia in patients with type 2 diabetes mellitus
Fanfan LI ; Lu NIU ; Jingjuan LI ; Yuanyuan LIU ; Ruifei YANG ; Xiaoqiong CHENG ; Binbin AN ; Zhenya WU ; Hongmei MA ; Lijuan WANG ; Shengnan LIU ; Jinyang WANG
Chinese Journal of Diabetes 2025;33(6):419-423
Objective To investigate the association between body roundness index(BRI)and hyperuricemia(HUA)in patients with type 2 diabetes mellitus(T2DM).Methods 555 T2DM inpatients were selected from July 2022 to October 2023 in Gansu Province People's Hospital Endocrinology.According to BRI,the T2DM patients were divided into four group:low BRI(L-BRI,BRI≤3.579,n=140)group,moderate BRI(M-BRI,3.579
3.Left ventricular myocardial work in detecting early cardiac dysfunction in patients with Fabry disease
Hong ZHOU ; Zijie GUO ; Jing WANG ; Shengnan ZHANG ; Wenrui AI ; Jingchao LU ; Songyun ZHANG ; Hongning YIN
Chinese Journal of Ultrasonography 2025;34(8):708-716
Objective:To utilize the left ventricular myocardial work(LVMW)technique for early identification of myocardial damage in patients with fabry disease(FD).Methods:In an observational cross-sectional study,35 patients with FD who visited the Second Hospital of Hebei Medical University from February 2023 to April 2024 were included. They were categorized into two groups based on left ventricular mass index(LVMI):the non-left ventricular hypertrophy group(LVH-FD group,14 cases)and the left ventricular hypertrophy group(LVH+FD group,21 cases). Further gender-stratified analysis was performed on parameters related to left ventricular global longitudinal strain(LVGLS)and LVMW. Additionally,for the FD group with normal LVGLS,a comparison of their LVMW-related parameters was made with a control group. A control group consisting of 28 healthy subjects from the same period was selected for comparison. The LVGLS,global work index(LVGWI),global constructive work(LVGCW),global wasted work(LVGWW),and global work efficiency(LVGWE)of the three groups were analyzed using two-dimensional speckle tracking and non-invasive myocardial work techniques,and intergroup comparisons of these parameters were performed. Pearson's linear correlation was applied to analyse the correlation between LVGWI,LVGWE and LVMI.Results:① According to the LVMI grouping results,compared with the control group,the LVH-FD group showed decreased LVGWI( P<0.05),while the LVH+FD group exhibited reductions in LVGLS,LVGWI,and LVGWE(all P<0.05). Compared to the LVH-FD group,the LVH+FD group demonstrated lower LVGLS,LVGWI,and LVGWE(all P<0.05). ② Gender subgroup analysis revealed that in the female subgroup,no statistically significant differences were observed in LVGLS,LVGWI,and LVGWE between the female control group and the female LVH-FD group(all P>0.05). However,the female LVH+ FD group showed decreased LVGLS,LVGWI,and LVGWE compared to both the female control group(all P<0.05)and the female LVH-FD group(all P<0.05). In the male subgroup,compared to the male control group,the male LVH-FD group had reduced LVGWI( P<0.05)but no significant differences in LVGLS or LVGWE(both P>0.05). The male LVH+ FD group displayed lower LVGLS,LVGWI,and LVGWE compared to both the male control group(all P<0.05)and the male LVH- FD group(all P<0.05). ③Compared with the control group,the LVGLS-normal FD group had a reduced LVGWI( P<0.05),while there were no statistically significant differences in LVGLS,LVGWE,LVGCW,and LVGWW between these two groups(all P>0.05). ④LVGWI and LVGWE were negatively correlated with LVMI( r=-0.617,-0.707;both P<0.001). Conclusions:LVMW can detect early cardiac dysfunction in patients with FD and is of guiding value for their clinical management.
4.Left ventricular myocardial work in detecting early cardiac dysfunction in patients with Fabry disease
Hong ZHOU ; Zijie GUO ; Jing WANG ; Shengnan ZHANG ; Wenrui AI ; Jingchao LU ; Songyun ZHANG ; Hongning YIN
Chinese Journal of Ultrasonography 2025;34(8):708-716
Objective:To utilize the left ventricular myocardial work(LVMW)technique for early identification of myocardial damage in patients with fabry disease(FD).Methods:In an observational cross-sectional study,35 patients with FD who visited the Second Hospital of Hebei Medical University from February 2023 to April 2024 were included. They were categorized into two groups based on left ventricular mass index(LVMI):the non-left ventricular hypertrophy group(LVH-FD group,14 cases)and the left ventricular hypertrophy group(LVH+FD group,21 cases). Further gender-stratified analysis was performed on parameters related to left ventricular global longitudinal strain(LVGLS)and LVMW. Additionally,for the FD group with normal LVGLS,a comparison of their LVMW-related parameters was made with a control group. A control group consisting of 28 healthy subjects from the same period was selected for comparison. The LVGLS,global work index(LVGWI),global constructive work(LVGCW),global wasted work(LVGWW),and global work efficiency(LVGWE)of the three groups were analyzed using two-dimensional speckle tracking and non-invasive myocardial work techniques,and intergroup comparisons of these parameters were performed. Pearson's linear correlation was applied to analyse the correlation between LVGWI,LVGWE and LVMI.Results:① According to the LVMI grouping results,compared with the control group,the LVH-FD group showed decreased LVGWI( P<0.05),while the LVH+FD group exhibited reductions in LVGLS,LVGWI,and LVGWE(all P<0.05). Compared to the LVH-FD group,the LVH+FD group demonstrated lower LVGLS,LVGWI,and LVGWE(all P<0.05). ② Gender subgroup analysis revealed that in the female subgroup,no statistically significant differences were observed in LVGLS,LVGWI,and LVGWE between the female control group and the female LVH-FD group(all P>0.05). However,the female LVH+ FD group showed decreased LVGLS,LVGWI,and LVGWE compared to both the female control group(all P<0.05)and the female LVH-FD group(all P<0.05). In the male subgroup,compared to the male control group,the male LVH-FD group had reduced LVGWI( P<0.05)but no significant differences in LVGLS or LVGWE(both P>0.05). The male LVH+ FD group displayed lower LVGLS,LVGWI,and LVGWE compared to both the male control group(all P<0.05)and the male LVH- FD group(all P<0.05). ③Compared with the control group,the LVGLS-normal FD group had a reduced LVGWI( P<0.05),while there were no statistically significant differences in LVGLS,LVGWE,LVGCW,and LVGWW between these two groups(all P>0.05). ④LVGWI and LVGWE were negatively correlated with LVMI( r=-0.617,-0.707;both P<0.001). Conclusions:LVMW can detect early cardiac dysfunction in patients with FD and is of guiding value for their clinical management.
5.Association between body roundness index and hyperuricemia in patients with type 2 diabetes mellitus
Fanfan LI ; Lu NIU ; Jingjuan LI ; Yuanyuan LIU ; Ruifei YANG ; Xiaoqiong CHENG ; Binbin AN ; Zhenya WU ; Hongmei MA ; Lijuan WANG ; Shengnan LIU ; Jinyang WANG
Chinese Journal of Diabetes 2025;33(6):419-423
Objective To investigate the association between body roundness index(BRI)and hyperuricemia(HUA)in patients with type 2 diabetes mellitus(T2DM).Methods 555 T2DM inpatients were selected from July 2022 to October 2023 in Gansu Province People's Hospital Endocrinology.According to BRI,the T2DM patients were divided into four group:low BRI(L-BRI,BRI≤3.579,n=140)group,moderate BRI(M-BRI,3.579
6.Analysis of karyotype and copy number variation in 386 fetuses with increased nuchal translucency
Yan TANG ; Shoulian LU ; Shengnan SONG ; Jue WANG ; Mingzhu MIAO
Chinese Journal of Clinical Laboratory Science 2025;43(2):98-101
Objective To investigate the karyotypes and the correlation of chromosomal abnormalities in the fetuses with increased nu-chal translucency(NT),so as to provide a basis for prenatal genetic counseling.Methods The clinical data of 386 singleton pregnant women with NT≥2.5mm who underwent invasive prenatal diagnosis at the First Affiliated Hospital of Nanjing Medical University from January 2018 to April 2022 were retrospectively analyzed.The fetuses were grouped according to NT thickness(2.5-3.4,3.5-3.9,4.0-4.9,5.0-5.9,and ≥6.0 mm),fetal ultrasound abnormalities(isolated increased NT,non-isolated increased NT),and maternal age(advanced age ≥35 years,non-advanced age<35 years).The chi-square test was used to compare the differences of the incidence of fetal chromosomal abnormalities among various groups.Results Among the 386 fetuses with increased NT,chromosomal abnormalities were detected in 87 cases with an overall detection rate of 22.5%(87/386),including chromosomal numerical abnormalities accounted for 82.8%(72/87)and copy number variations(CNVs)accounted for 17.2%(15/87).The detection rates of chromosomal abnormal-ities and numerical abnormalities increased with NT thickness(P<0.05),while no statistically significant difference of CNV abnormali-ty rates was found(P=0.41).The detection rates of chromosomal abnormalities(36.5%)and CNV abnormalities(14.1%)in the non-isolated increased NT group were significantly higher than those in the isolated increased NT group(18.6%and 1.0%,respective-ly,both P<0.05).The detection rates of chromosomal abnormalities(34.7%)and numerical abnormalities(31.6%)in the fetuses of advanced maternal age mothers with increased NT were significantly higher than those in the non-advanced age group(18.4%and 14.2%,respectively,both P<0.05).However,the difference of CNV abnormality rates between the two groups was not statistically sig-nificant(P=0.62).Conclusion The detection rate of fetal chromosomal abnormalities elevated with increased NT thickness.Ad-vanced maternal age and the presence of other ultrasound abnormalities were the high-risk factors for fetal chromosomal abnormalities.The risks of CNV abnormalities may not be significantly correlated with NT thickness or maternal age but associated with the presence of other ultrasound abnormalities.
7.Prognostic value of 18F-FDG PET/CT metabolic parameters in locally recurrent nasopharyngeal carcinoma receiving chemoradiotherapy and their relationships with peripheral blood inflammation markers
Weijun XIAN ; Yanlin FENG ; Ying WANG ; Ming YANG ; Shengnan LU
Chinese Journal of Nuclear Medicine and Molecular Imaging 2023;43(1):31-35
Objective:To investigate the prognostic value of 18F-FDG PET/CT in patients with locally recurrent nasopharyngeal carcinoma (NPC) receiving chemoradiotherapy, and relationships between different metabolic parameters and peripheral blood inflammation markers. Methods:From January 2013 to June 2016, the data of 56 patients (40 males, 16 females, age 27-81 years) with locally recurrent NPC receiving chemoradiotherapy in the First People′s Hospital of Foshan were retrospectively analyzed. The SUV max, metabolic tumor volume (MTV), and total lesion glycolysis (TLG) were determined by 18F-FDG PET/CT and peripheral blood inflammation markers within 1 week before treatment were measured. Spearman rank correlation analysis was used to estimate the correlations between metabolic parameters and inflammation markers. According to the ROC curve, the best cut-off values of the SUV max, MTV and TLG were obtained and used to group patients. The Kaplan-Meier method and Cox regression were used to conduct univariate analysis and multivariate analysis of 3-year locoregional failure-free survival (LRFFS) and 3-year overall survival (OS) in patients with locally recurrent NPC. The prognostic value of metabolic parameters in patients with early and advanced recurrent T(rT) stages were compared. Results:MTV was positively correlated with neutrophils, neutrophil-lymphocyte ratio (NLR), platelet-lymphocyte ratio (PLR) and high-sensitivity C-reactive protein (hs-CRP) before treatment in patients with locally recurrent NPC ( rs values: 0.30, 0.30, 0.28, 0.27, all P<0.05); TLG was positively correlated with neutrophils, monocytes, NLR and PLR ( rs values: 0.30, 0.28, 0.32, 0.30, all P<0.05). But there were no correlations between SUV max and peripheral blood inflammation markers ( rs values: from -0.18 to 0.24, all P>0.05). SUV max was an factor affecting 3-year LRFFS of patients undergoing radiotherapy and chemotherapy (hazard ratio ( HR)=3.815(95% CI: 1.278-11.388), P=0.016), while rT stage and MTV were prognostic factors for 3-year OS ( HR values: 4.492(95% CI: 1.474-13.688), 7.238(95% CI: 1.653-31.688), P values: 0.008, 0.009). For patients with advanced rT (rT3-4), the 3-year OS of the MTV≥6.84 cm 3 group was significantly lower than that of MTV<6.84 cm 3 group ( χ2=6.99, P=0.008). Conclusions:SUV max of tumor and MTV before treatment have important prognostic values in patients with locally recurrent NPC receiving chemoradiotherapy, but their predictive effects on prognosis are not the same. The varying effects of local inflammation on metabolic parameters may be one of the important reasons lead to that difference.
8.Observation and evaluation of the application effect of a dynamic scoring method in the emergency department of primary hospital.
Zhongyuan ZHOU ; Shijun MO ; Zengxue LU ; Shengnan LIU ; Yongjun PENG
Chinese Critical Care Medicine 2023;35(5):533-537
OBJECTIVE:
To establish a new emergency dynamic score (EDS) method based on modified early warning score (MEWS) combined with clinical symptoms, rapidly available examination results and bedside examination data in the emergency department, and to observe its applicability and feasibility in the clinical application of emergency department.
METHODS:
A total of 500 patients admitted to the department of emergency of Xing'an County People's Hospital from July 2021 to April 2022 were selected as research objects. After admission, EDS and MEWS scores were performed first, and then acute physiology and chronic health evaluation II (APACHE II) was performed retrospectively, and the prognosis of patients was followed up. The difference of short-term mortality in patients with different score segments of EDS, MEWS and APACHE II were compared. Receiver operator characteristic curve (ROC curve) was drawn to evaluate the prognostic value of various scoring methods in critically ill patients.
RESULTS:
The mortality of patients in different score groups of each scoring method increased with the increase of the score value [The mortality of 0-1, 2-3, 4-5, 6-7 and ≥ 8 of MEWS were 1.9% (3/159), 2.9% (6/208), 12.4% (11/89), 29.0% (9/31) and 61.5% (8/13), respectively. The mortality of EDS stage 1 weighted MEWS score 0-3, 4-6, 7-9, 10-12 and ≥ 13 were 0 (0/49), 3.2% (8/247), 6.6% (10/152), 31.9% (15/47) and 80.0% (4/5), respectively. The mortality of EDS stage 2 clinical symptom score 0-4, 5-9, 10-14, 15-19, ≥ 20 were 0 (0/13), 0.4% (1/235), 3.6% (6/165), 26.2% (17/65), 59.1% (13/22), respectively. The mortality of EDS stage 3 rapid test data score 0-6, 7-12, 13-18, 19-24 and ≥ 25 were 0 (0/16), 0.6% (1/159), 4.6% (6/131), 13.7% (7/51) and 65.0% (13/20), respectively. The mortality of patients with APACHE II score 0-6, 7-12, 13-18, 19-24 and ≥ 25 were 1.9% (1/53), 0.4% (1/277), 4.6% (5/108), 34.2% (13/38) and 70.8% (17/24), respectively, all P < 0.01]. When the MEWS score was more than 4, the specificity was 87.0%, the sensitivity was 67.6%, and the maximum Youden index was 0.546, which was the best cut-off point. When the weighted MEWS score of EDS in the first stage was greater than 7, the specificity of predicting the prognosis of patients was 76.2%, the sensitivity was 70.3%, and the maximum Youden index was 0.465, which was the best cut-off point. When clinical symptom score of EDS in the second stage was more than 14, the specificity and sensitivity of predicting the prognosis of patients were 87.7% and 81.1%, respectively, and the maximum Youden index was 0.688, which was the best cut-off point. When the third stage rapid test of EDS reached 15 points, the specificity of predicting the prognosis of patients was 70.9%, and the sensitivity was 96.3%, and the maximum Youden index was 0.672, which was the best cut-off point. When APACHE II score was higher than 16, the specificity was 87.9%, the sensitivity was 86.5%, and the maximum Youden index was 0.743, which was the best cut-off point. ROC curve analysis showed that: EDS score in the stage 1, 2 and 3, MEWS score and APACHE II score can predict the short-term mortality risk of critically ill patients. The area under the ROC curve (AUC) and 95% confidence interval (95%CI) were 0.815 (0.726-0.905), 0.913 (0.867-0.959), 0.911 (0.860-0.962), 0.844 (0.755-0.933) and 0.910 (0.833-0.987), all P < 0.01. In terms of the differential ability to predict the risk of death in the short-term, the AUC in the second and third stages of EDS were highly close to APACHE II score (0.913, 0.911 vs. 0.910), and significantly higher than MEWS score (0.913, 0.911 vs. 0.844, both P < 0.05).
CONCLUSIONS
EDS method can dynamically evaluate emergency patients in stages, and has the characteristics of fast, simple, easy to obtain test and inspection data, which can facilitate emergency doctors to evaluate emergency patients objectively and quickly. It has strong ability to predict the prognosis of emergency patients, and is worth popularizing in emergency departments of primary hospitals.
Humans
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Research Design
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Critical Illness
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Retrospective Studies
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Hospitals
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Emergency Service, Hospital
9.Consensus on prescription review of commonly used H 1-antihistamines in pediatrics
Lihua HU ; Lu LIU ; Huiying CHEN ; Heping CAI ; Wentong GE ; Zhiying HAN ; Huijie HUANG ; Xing JI ; Yuntao JIA ; Lingyan JIAN ; Nannan JIANG ; Zhong LI ; Li LI ; Hua LIANG ; Chuanhe LIU ; Qinghong LU ; Xu LU ; Jun′e MA ; Jing MIAO ; Yanli REN ; Yunxiao SHANG ; Kunling SHEN ; Huajun SUN ; Jinqiao SUN ; Yanyan SUN ; Jianping TANG ; Hong WANG ; Lianglu WANG ; Xiaochuan WANG ; Lei XI ; Hua XU ; Zigang XU ; Meixing YAN ; Yong YIN ; Shengnan ZHANG ; Zhongping ZHANG ; Xin ZHAO ; Deyu ZHAO ; Wei ZHOU ; Li XIANG ; Xiaoling WANG
Chinese Journal of Applied Clinical Pediatrics 2023;38(10):733-739
H 1-antihistamines are widely used in the treatment of various allergic diseases, but there are still many challenges in the safe and rational use of H 1-antihistamines in pediatrics, and there is a lack of guidance on the prescription review of H 1-antihistamines for children.In this paper, suggestions are put forward from the indications, dosage, route of administration, pathophysiological characteristics of children with individual difference and drug interactions, so as to provide reference for clinicians and pharmacists.
10.Recommendations for prescription review of commonly used anti-seizure medications in treatment of children with epilepsy
Qianqian QIN ; Qian DING ; Xiaoling LIU ; Heping CAI ; Zebin CHEN ; Lina HAO ; Liang HUANG ; Yuntao JIA ; Lingyan JIAN ; Zhong LI ; Hua LIANG ; Maochang LIU ; Qinghong LU ; Xiaolan MO ; Jing MIAO ; Yanli REN ; Huajun SUN ; Yanyan SUN ; Jing XU ; Meixing YAN ; Li YANG ; Shengnan ZHANG ; Shunguo ZHANG ; Xin ZHAO ; Jie DENG ; Fang FANG ; Li GAO ; Hong HAN ; Shaoping HUANG ; Li JIANG ; Baomin LI ; Jianmin LIANG ; Jianxiang LIAO ; Zhisheng LIU ; Rong LUO ; Jing PENG ; Dan SUN ; Hua WANG ; Ye WU ; Jian YANG ; Yuqin ZHANG ; Jianmin ZHONG ; Shuizhen ZHOU ; Liping ZOU ; Yuwu JIANG ; Xiaoling WANG
Chinese Journal of Applied Clinical Pediatrics 2023;38(10):740-748
Anti-seizure medications (ASMs) are the main therapy for epilepsy.There are many kinds of ASMs with complex mechanism of action, so it is difficult for pharmacists to examine prescriptions.This paper put forward some suggestions on the indications, dosage forms/routes of administration, appropriateness of usage and dosage, combined medication and drug interaction, long-term prescription review, individual differences in pathophysiology of children, and drug selection when complicated with common epilepsy, for the reference of doctors and pharmacists.

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