1.Treatment of Coexisting Dryness and Dampness in Sjögren's Syndrome Based on "Three Methods for Liver Diseases"
Yuze LIU ; Fengtao PANG ; Jiale HE ; Xiaopo TANG
Journal of Traditional Chinese Medicine 2025;66(14):1495-1498
This paper summarizes clinical insights on treating the syndrome of coexisting dryness and dampness in Sjögren's syndrome (SS) based on the "three methods for liver diseases". It is proposed that the core pathogenesis of this subtype lies in the liver's failure to regulate and disperse, leading to fluid retention and transformation into dryness; disharmony between wood (liver) and earth (spleen), resulting in internal generation of dryness and dampness; and liver impairment affecting the kidney, eventually causing extreme dryness to transform into dampness. This syndrome is thus characterized by disharmony between the liver and spleen, as well as dysfunction between ti (character, 体) and yong (function, 用). Drawing from the Guide to Clinical Case (《临证指南医案》), the "three methods for liver diseases" are applied as follows,i.e. using pungent and dispersing herbs to regulate the liver and resolve qi stagnation; using sweet and gentle herbs to soothe the liver and address the root of concurrent dryness and dampness; and using sour and purgative herbs to soften the liver and restore fluid balance. The coordinated use of these three methods, treating both ti and yong, facilitates the separation of dryness and dampness, providing a novel approach to syndrome differentiation and treatment for this subtype of SS.
2.Current status and influencing factors of pelvic floor muscle training adherence in rectal cancer patients with prophylactic ostomy
Na LIU ; Hongying PI ; Na GAO ; Yuze SUN ; Tianze WANG
Journal of Army Medical University 2025;47(14):1660-1669
Objective To investigate the current status of pelvic floor muscle training(PFMT)adherence for preventing low anterior resection syndrome(LARS)in rectal cancer patients with prophylactic ostomy and analyze its influencing factors.Methods A total of 247 patients who underwent preventive stoma reversal surgery after sphincter-preserving rectal cancer resection between January 2024 and February 2025 at 22 tertiary hospitals in the Beijing-Tianjin-Hebei region were recruited in this study.Their clinical data were collected through a general information questionnaire,a LARS Knowledge-Attitude-Practice and Needs questionnaire,a PFMT Self-Efficacy Scale,and a PFMT Adherence Questionnaire.Univariate analysis,correlation analysis,LASSO regression,and random forest importance ranking were applied to screen the variables,and multiple linear regression analysis was conducted to analyze the significant variables.Results The overall PFMT adherence score was 14.52±4.18 among the 247 patients.The random forest algorithm identified 7 key predictors when the minimum error was achieved at a λ value of 2.293.The top 7 variables in importance ranking were PFMT self-efficacy,total knowledge-attitude-practice(KAP)score,education level,primary caregiver,tumor location,stoma reversal time,and chemoradiotherapy.Multiple linear regression analysis revealed that PFMT self-efficacy(P<0.001,β=0.007,95%CI:0.004~0.009),total KAP score(P<0.001,β=0.052,95%CI:0.035~0.070),stoma reversal time(P<0.030,β=-0.539,95%CI:-1.025~-0.053),and chemoradiotherapy(P<0.045,β=-0.451,95%CI:0.010~0.892)were significant related factors of PFMT adherence(P<0.05).Conclusion PFMT adherence for LARS prevention is at a moderate level in rectal cancer patients with prophylactic ostomy.Key factors such as PFMT self-efficacy,total KAP score,stoma reversal time,and chemoradiotherapy are significantly correlated with PFMT adherence.
3.A meta-analysis of platelet-rich plasma for treatment of diabetic foot ulcers
Yuze WANG ; Hao LIANG ; Yan SU ; Haimai DING ; Xiaomeng HOU ; Zhi LIU
Journal of Clinical Medicine in Practice 2025;29(11):20-25
Objective To evaluate the clinical efficacy of platelet-rich plasma(PRP)in treat-ment of diabetic foot ulcers(DFU)using a meta-analysis approach.Methods Relevant literature on PRP for treatment of DFU was collected by searching databases including PubMed,Cochrane Library,Embase,Web of Science,NEJM,CNKI,Wanfang Data,VIP Database,and China Biology Medicine disc.Relevant literature on PRP for treatment of DFU was collected.The literature was read,and effect sizes were extracted.The extracted data were then subjected to a meta-analysis using RevMan 5.3 software.Results A total of 6 studies were included in this meta-analysis,involving 440 pa-tients.Among them,there were 208 patients in experimental group(PRP combined with conventional treatment)and 232 patients in control group(conventional treatment,blank control,or placebo treat-ment).The ulcer healing efficacy rate in the experimental group was higher than that in the control group(OR=1.29,95%CI,1.19 to 1.40,P<0.05).The incidence of adverse reactions in the experimental group was lower than that in the control group(OR=0.33,95%CI,0.12 to 0.93,P=0.94).The healing time(MD=-14.37,95%CI,-23.12 to-5.62,P=0.001),thickness of granulation tissue on the ulcer surface(MD=1.60,95%CI,1.31-1.88,P<0.000 01),coverage rate of granulation tissue on ulcer surface(MD=6.03,95%CI,3.79 to 8.26,P<0.05),and level of vascular endothelial growth factor on the ulcer surface(MD=7.62,95%CI,1.57 to 13.67,P=0.01)in the experimental group were all superior to those in the control group.Con-clusion PRP treatment for DFU has the advantages of improving the ulcer healing efficacy rate,shortening the ulcer healing time,promoting the growth of granulation tissue on the ulcer surface,and reducing the incidence of adverse reactions.
4.Mechanisms underlying the role of the TXNIP/Trx-1 pathway in microglial polarization in rat retinas after retinal ischemia reperfusion
Yuze ZHAO ; Yiwen WANG ; Lijun ZHANG ; Xinhao FU ; Peilun XIAO ; Xiaoli WANG ; Jianliang LIU ; Yansong ZHAO
Recent Advances in Ophthalmology 2025;45(3):177-182,201
Objective To explore the mechanism of the thioredoxin-interacting protein(TXNIP)/thioredoxin-1(Trx-1)pathway in regulating the polarization of retinal microglia in rats after retinal ischemia-reperfusion(RIR)in rats,and to provide new ideas for the prevention and treatment of retinal ischemia reperfusion injury(RIRI).Methods For-ty-two healthy adult male Sprague-Dawley rats were randomly divided into a Sham group,a RIRI group and a TXNIP siRNA group.The right eye of the rats was experimented.For RIRI and TXNIP siRNA groups,RIRI models were established using the anterior chamber high intraocular pressure method.Rats in the TXNIP siRNA group were given the intravitreal injection of TXNIP siRNA 3 d before modeling.Hematoxylin-eosin(HE)staining was used to analyze retinal histopathologic changes of rats in all groups 24 h after modeling.Immunohistochemical staining of brain-specific homeobox/POU domain proteins 3A(Brn-3a)was made to count the number of retinal ganglion cells(RGCs).The dynamical changes in the number of TXNIP+cells 6 h,24 h,72 h and 7 d after modelling were analyzed through immunohistochemical staining in the RIRI group.The retinal microglia polarization and changes in the expression of TXNIP and Trx-1 proteins in each group were de-tected by double immunofluorescence staining and Western blot 24 h after modeling.Results HE staining results showed that 24 h after modelling,the retinal cells were disordered and the inner retinal layer was thickened and swelled in RIRI and TXNIP siRNA groups,compared with those in the Sham group(all P<0.05).Immunohistochemical staining results of Brn-3a showed that 24 h after modeling,the number of Brn-3a+cells in RIRI and TXNIP siRNA groups significantly decreased,compared with that in the Sham group(both P<0.05).The number of Brn-3a+cells in the TXNIP siRNA group was signifi-cantly higher than that in the RIRI group(P<0.05).Immunohistochemical staining results of TXNIP at different time points after modeling showed that the expression of TXNIP+proteins started to increase 6 h after modeling.The TXNIP+protein level reached a peak at 24 h and then decreased gradually.Western blot results revealed that 24 h after modeling,RIRI and TXNIP siRNA groups had significantly higher TXNIP levels and significantly lower Trx-1 levels than the Sham group(all P<0.05).Compared with those in the RIRI group,the expression of TXNIP proteins was significantly lower and the expression of Trx-1 proteins was significantly higher in the TXNIP siRNA group(both P<0.05).Double immunofluores-cence staining showed that 24 h after modeling,Iba1+/CD206+cells were significantly more and Iba1+/CD16+cells were significantly less in the TXNIP siRNA group than those in the RIRI group(both P<0.05).RIRI and TXNIP siRNA groups had significantly more Ibal+/TXNIP+cells and significantly less Iba1+/Trx-1+cells than the Sham group(both P<0.05).The number of Iba1+/TXNIP+cells was significantly lower and the number of Iba1+/Trx-1+cells was significantly higher in the TXNIP siRNA group than those in the RIRI group(both P<0.05).Conclusion RIR activates the TXNIP/Trx-1 path-way to induce the activation of retinal microglia and regulate the polarization of microglia,thereby resulting in RIRI in rats.
5.Study on the Chemical Components of Lignans from the Root Bark of Schisandra Sphenanthera
Yuxuan WANG ; Yuanyuan LIU ; Yuying ZHANG ; Shiqi HUANG ; Yuze LI ; Chong DENG ; Xiaomei SONG ; Wei WANG ; Dongdong ZHANG
Journal of Nanjing University of Traditional Chinese Medicine 2025;41(6):813-821
OBJECTIVE To study the chemical constituents in the root bark of Schisandra sphenanthera and their cytotoxic activ-ities.METHODS The compounds were isolated and purified by silica,Sephadex LH-20 and semi preparative-HPLC and the chem-ical structures were identified by 1 H-NMR,13 C-NMR and MS data analysis.The cytotoxic activities of the compounds were deter-mined by MTT method.RESULTS Twenty lignans were isolated and deduced as:Matairesinol(1),2-Hydroxy-2-(3′,4′-di-hydroxyphenyl)methyl-3-(3″,4″-dimethoxyphenyl)methyl-gamma-butyrolactone(2),(+)-Nortrachelogenin(3),2-Hydroxy-2-(4′-O-β-D-glucopyranosyl-3′-hydroxyphenyl)methyl-3-(3″,4″-dimethoxyphenyl)methyl-γ-butyrolactone(4),Nortracheloside(5),Burselignan(6),(+)-Cycloolivil(7),5-Methoxy-(+)-isolariciresinol(8),(-)-Isolariciresinol 3α-O-β-D-glucopyranoside(9),(+)-9-O-β-D-Glucopyranosyl lyoniresinol(10),(-)-Secoisolariciresinol(11),Licarin A(12),Cedrusin(13),Mataires-inol 4′-O-β-D-glucopyranoside(14),Pregomisin(15),Meso-dihydroguaiaretic acid(16),7S,8R-Erythro-4,9,9′-trihydroxy-3,3′-dimethoxy-8-O-4′-neolignan-7-O-β-D-glucopyranoside(17),Gomisin M2(18),Gomisin M3(19),Pinoresinol(20).Com-pounds 1-3,12,15,16,18 and 19 showed cytotoxic activity against A549,HCT116 and SW620 cell lines with IC50 values ranging from 1.4 to 22.9 μmol·L-1.CONCLUSION Compounds 1-4,6-12,14,17-19 are isolated from the plant for the first time,com-pounds 1-3,12,15,16,18 and 19 exhibit cytotoxic activities.
6.Melatonin attenuates the inflammatory response in rats with oxygen-induced retinopathy through the cGAS-STING-NLRP3 pathway
Chenxu WANG ; Peilun XIAO ; Yuze ZHAO ; Lijun ZHANG ; Zhongbao LIU ; Yuxuan LIN ; Xiaoli WANG ; Yansong ZHAO
Chinese Journal of Neuroanatomy 2025;41(4):429-436
Objective:To investigate the effects of melatonin(Mel)on inflammatory damage in the retina of rats with oxygen-induced retinopathy(OIR)and the molecular mechanisms.Methods:Healthy neonatal SD rats were di-vided into the sham group(Sham),the model group(OIR),and the melatonin treatment group(OIR+Mel).The OIR model was induced by alternating 50%/10%oxygen concentration exposure for 14 d.The OIR+Mel group was in-jected intraperitoneally with 10 mg-kg-1 melatonin.Hematoxylin-eosin(HE)staining was used to observe the morpho-logical changes in the retinal tissue;immunohistochemical staining was used to detect the expression of retinal cleaved-caspase-1 and IL-1β proteins;and immunofluorescence staining was used to detect the expression of cGAS-STING-NL-RP3 signaling molecules and gasdermin(GSDMD)in the microglia of the retina.Results:HE staining results showed that compared with the Sham group,the retinal cells in the OIR group were disorganized and the thickness of the inner retina was significantly thinner,and the retinal cells in the OIR+Mel group were more neatly arranged compared with those in the OIR group(P<0.05).Immunohistochemical staining results showed that the number of cleaved-caspase-1+and IL-1β+cells in the retina of rats in the OIR group increased significantly compared with that in the Sham group,and the number of cleaved-caspase-1+and IL-1β+cells in the retina of rats in the OIR+Mel group decreased signifi-cantly compared with that of the OIR group(P<0.05).Immunofluorescence staining results showed that the number of cGAS+,STING+and NLRP3+cells in the retina of rats in the OIR group increased significantly compared with that in the Sham group,and the number of cGAS+,STING+and NLRP3+cells in the retina of rats in the OIR+Mel group de-creased significantly compared with that in the OIR group(P<0.05);The number of Iba-1+/N-GSDMD+cells in-creased significantly in the OIR group compared with the Sham group,whereas the number of Iba-1+/N-GSDMD+cells in the OIR+Mel group was significantly less than that in the OIR group,but still more than that in the Sham group(P<0.05).Conclusion:Mel inhibits the pyroptosis of retinal microglia,thus attenuates retinal inflammatory injury in OIR rats,and its mechanism may be related to the cGAS-STING-NLRP3 signaling pathway.
7.Melatonin attenuates the inflammatory response in rats with oxygen-induced retinopathy through the cGAS-STING-NLRP3 pathway
Chenxu WANG ; Peilun XIAO ; Yuze ZHAO ; Lijun ZHANG ; Zhongbao LIU ; Yuxuan LIN ; Xiaoli WANG ; Yansong ZHAO
Chinese Journal of Neuroanatomy 2025;41(4):429-436
Objective:To investigate the effects of melatonin(Mel)on inflammatory damage in the retina of rats with oxygen-induced retinopathy(OIR)and the molecular mechanisms.Methods:Healthy neonatal SD rats were di-vided into the sham group(Sham),the model group(OIR),and the melatonin treatment group(OIR+Mel).The OIR model was induced by alternating 50%/10%oxygen concentration exposure for 14 d.The OIR+Mel group was in-jected intraperitoneally with 10 mg-kg-1 melatonin.Hematoxylin-eosin(HE)staining was used to observe the morpho-logical changes in the retinal tissue;immunohistochemical staining was used to detect the expression of retinal cleaved-caspase-1 and IL-1β proteins;and immunofluorescence staining was used to detect the expression of cGAS-STING-NL-RP3 signaling molecules and gasdermin(GSDMD)in the microglia of the retina.Results:HE staining results showed that compared with the Sham group,the retinal cells in the OIR group were disorganized and the thickness of the inner retina was significantly thinner,and the retinal cells in the OIR+Mel group were more neatly arranged compared with those in the OIR group(P<0.05).Immunohistochemical staining results showed that the number of cleaved-caspase-1+and IL-1β+cells in the retina of rats in the OIR group increased significantly compared with that in the Sham group,and the number of cleaved-caspase-1+and IL-1β+cells in the retina of rats in the OIR+Mel group decreased signifi-cantly compared with that of the OIR group(P<0.05).Immunofluorescence staining results showed that the number of cGAS+,STING+and NLRP3+cells in the retina of rats in the OIR group increased significantly compared with that in the Sham group,and the number of cGAS+,STING+and NLRP3+cells in the retina of rats in the OIR+Mel group de-creased significantly compared with that in the OIR group(P<0.05);The number of Iba-1+/N-GSDMD+cells in-creased significantly in the OIR group compared with the Sham group,whereas the number of Iba-1+/N-GSDMD+cells in the OIR+Mel group was significantly less than that in the OIR group,but still more than that in the Sham group(P<0.05).Conclusion:Mel inhibits the pyroptosis of retinal microglia,thus attenuates retinal inflammatory injury in OIR rats,and its mechanism may be related to the cGAS-STING-NLRP3 signaling pathway.
8.Mechanisms underlying the role of the TXNIP/Trx-1 pathway in microglial polarization in rat retinas after retinal ischemia reperfusion
Yuze ZHAO ; Yiwen WANG ; Lijun ZHANG ; Xinhao FU ; Peilun XIAO ; Xiaoli WANG ; Jianliang LIU ; Yansong ZHAO
Recent Advances in Ophthalmology 2025;45(3):177-182,201
Objective To explore the mechanism of the thioredoxin-interacting protein(TXNIP)/thioredoxin-1(Trx-1)pathway in regulating the polarization of retinal microglia in rats after retinal ischemia-reperfusion(RIR)in rats,and to provide new ideas for the prevention and treatment of retinal ischemia reperfusion injury(RIRI).Methods For-ty-two healthy adult male Sprague-Dawley rats were randomly divided into a Sham group,a RIRI group and a TXNIP siRNA group.The right eye of the rats was experimented.For RIRI and TXNIP siRNA groups,RIRI models were established using the anterior chamber high intraocular pressure method.Rats in the TXNIP siRNA group were given the intravitreal injection of TXNIP siRNA 3 d before modeling.Hematoxylin-eosin(HE)staining was used to analyze retinal histopathologic changes of rats in all groups 24 h after modeling.Immunohistochemical staining of brain-specific homeobox/POU domain proteins 3A(Brn-3a)was made to count the number of retinal ganglion cells(RGCs).The dynamical changes in the number of TXNIP+cells 6 h,24 h,72 h and 7 d after modelling were analyzed through immunohistochemical staining in the RIRI group.The retinal microglia polarization and changes in the expression of TXNIP and Trx-1 proteins in each group were de-tected by double immunofluorescence staining and Western blot 24 h after modeling.Results HE staining results showed that 24 h after modelling,the retinal cells were disordered and the inner retinal layer was thickened and swelled in RIRI and TXNIP siRNA groups,compared with those in the Sham group(all P<0.05).Immunohistochemical staining results of Brn-3a showed that 24 h after modeling,the number of Brn-3a+cells in RIRI and TXNIP siRNA groups significantly decreased,compared with that in the Sham group(both P<0.05).The number of Brn-3a+cells in the TXNIP siRNA group was signifi-cantly higher than that in the RIRI group(P<0.05).Immunohistochemical staining results of TXNIP at different time points after modeling showed that the expression of TXNIP+proteins started to increase 6 h after modeling.The TXNIP+protein level reached a peak at 24 h and then decreased gradually.Western blot results revealed that 24 h after modeling,RIRI and TXNIP siRNA groups had significantly higher TXNIP levels and significantly lower Trx-1 levels than the Sham group(all P<0.05).Compared with those in the RIRI group,the expression of TXNIP proteins was significantly lower and the expression of Trx-1 proteins was significantly higher in the TXNIP siRNA group(both P<0.05).Double immunofluores-cence staining showed that 24 h after modeling,Iba1+/CD206+cells were significantly more and Iba1+/CD16+cells were significantly less in the TXNIP siRNA group than those in the RIRI group(both P<0.05).RIRI and TXNIP siRNA groups had significantly more Ibal+/TXNIP+cells and significantly less Iba1+/Trx-1+cells than the Sham group(both P<0.05).The number of Iba1+/TXNIP+cells was significantly lower and the number of Iba1+/Trx-1+cells was significantly higher in the TXNIP siRNA group than those in the RIRI group(both P<0.05).Conclusion RIR activates the TXNIP/Trx-1 path-way to induce the activation of retinal microglia and regulate the polarization of microglia,thereby resulting in RIRI in rats.
9.Study on the Chemical Components of Lignans from the Root Bark of Schisandra Sphenanthera
Yuxuan WANG ; Yuanyuan LIU ; Yuying ZHANG ; Shiqi HUANG ; Yuze LI ; Chong DENG ; Xiaomei SONG ; Wei WANG ; Dongdong ZHANG
Journal of Nanjing University of Traditional Chinese Medicine 2025;41(6):813-821
OBJECTIVE To study the chemical constituents in the root bark of Schisandra sphenanthera and their cytotoxic activ-ities.METHODS The compounds were isolated and purified by silica,Sephadex LH-20 and semi preparative-HPLC and the chem-ical structures were identified by 1 H-NMR,13 C-NMR and MS data analysis.The cytotoxic activities of the compounds were deter-mined by MTT method.RESULTS Twenty lignans were isolated and deduced as:Matairesinol(1),2-Hydroxy-2-(3′,4′-di-hydroxyphenyl)methyl-3-(3″,4″-dimethoxyphenyl)methyl-gamma-butyrolactone(2),(+)-Nortrachelogenin(3),2-Hydroxy-2-(4′-O-β-D-glucopyranosyl-3′-hydroxyphenyl)methyl-3-(3″,4″-dimethoxyphenyl)methyl-γ-butyrolactone(4),Nortracheloside(5),Burselignan(6),(+)-Cycloolivil(7),5-Methoxy-(+)-isolariciresinol(8),(-)-Isolariciresinol 3α-O-β-D-glucopyranoside(9),(+)-9-O-β-D-Glucopyranosyl lyoniresinol(10),(-)-Secoisolariciresinol(11),Licarin A(12),Cedrusin(13),Mataires-inol 4′-O-β-D-glucopyranoside(14),Pregomisin(15),Meso-dihydroguaiaretic acid(16),7S,8R-Erythro-4,9,9′-trihydroxy-3,3′-dimethoxy-8-O-4′-neolignan-7-O-β-D-glucopyranoside(17),Gomisin M2(18),Gomisin M3(19),Pinoresinol(20).Com-pounds 1-3,12,15,16,18 and 19 showed cytotoxic activity against A549,HCT116 and SW620 cell lines with IC50 values ranging from 1.4 to 22.9 μmol·L-1.CONCLUSION Compounds 1-4,6-12,14,17-19 are isolated from the plant for the first time,com-pounds 1-3,12,15,16,18 and 19 exhibit cytotoxic activities.
10.Ultrasound findings and genetic diagnosis of 95 fetuses with complex talipes equinovarus
Yuze WANG ; Ling LIU ; Chunshuang ZHANG ; Yunxiao ZHI ; Jinjin MA ; Guomei CHENG
Chinese Journal of Perinatal Medicine 2024;27(5):379-386
Objective:To investigate the ultrasonographic features and genetic etiology of complex talipes equinovarus (TE) in fetuses.Methods:This retrospective study enrolled 95 cases of complex TE (TE complicated by other abnormalities) who were diagnosed by prenatal ultrasound in the Third Affiliated Hospital of Zhengzhou University from March 2018 to December 2022. Chromosome karyotype analysis and/or chromosomal microarray analysis (CMA) [or copy number variation-sequencing (CNV-seq)] were performed on all cases for prenatal genetic diagnosis and those with normal results were further tested by whole exome sequencing (WES). Prenatal ultrasonographic and genetic features of complex TE in fetuses were summarized. Complicated abnormalities in the fetuses were classified into nine categories according to the involved system or site and based on each category these subjects were divided into with or without the corresponding complicated abnormalities groups. Besides, these cases were also divided into single-system and multi-system abnormality groups based on the number of involved systems or sites of complicated abnormalities. The detection rates of WES abnormality (pathogenic or likely pathogenic variants) and the overall detection rate of genetic abnormality [karyotype abnormality detected by chromosome karyotype analysis, pathogenic or likely pathogenic copy number variations (CNVs) detected by CMA (or CNV-seq), and pathogenic or likely pathogenic variation detected by WES] were compared between different groups using Chi-square test or Fisher's exact test. Results:Abnormal chromosome karyotypes were identified in 10 (24.4%) of 41 cases receiving chromosome karyotype analysis, pathogenic and likely pathogenic CNVs were found in seven (7.6%) of 92 cases by CMA (or CNV-seq). WES was performed on 37 cases with negative results of chromosomal karyotype analysis and CMA (or CNV-seq) and the detection rate of pathogenic and likely pathogenic variants was 43.2% (16/37). The detection rate of WES abnormality was higher in the fetuses with musculoskeletal abnormalities than in those without the abnormalities [71.4% (15/21) vs. 1/16, Fisher's exact test, P<0.001], while in those with other postural abnormalities was higher than that in the group without other postural abnormalities [12/16 vs. 19.0% (4/21), Fisher's exact test, P=0.001]. The genetic causes of complex TE were identified in 34.7% (33/95) of the fetuses by the sequential genetic diagnosis using chromosome karyotype analysis, CMA (or CNV-seq), and WES. The overall detection rate of genetic abnormality was higher in the group with multi-system abnormality than in the group with single-system abnormality [48.9% (22/45) vs. 22.0% (11/50), χ2=7.55, P=0.006], in the group with musculoskeletal system abnormalities and without [46.8% (22/47) vs. 22.9% (11/48), χ2=5.98, P=0.014], and in the group with other postural abnormality and without [47.2% (17/36) vs. 27.1% (16/59), χ2=3.99, P=0.046]. Nine cases that were considered isolated TE on initial ultrasound were corrected to a complex diagnosis on subsequent ultrasound examinations. Of all the involved system or site, the neurologic abnormalities were the most diverse (13 kinds) and had a diversity of ultrasound presentations. Conclusions:Genetic diagnosis should be performed when prenatal ultrasound suggests fetal complex TE. WES is conducive to improving the prenatal detection rate of monogenic diseases, especially in fetuses complicated by musculoskeletal abnormalities. Isolated TE fetuses require serial ultrasound examinations to correct the diagnosis in time and genetic testing should be performed if necessary. Additional attention should be paid to the TE fetus for comorbid neurologic abnormalities at the time of ultrasonography to rule out TE as an intrauterine harbinger of neuromuscular disease.

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