1.Ultrasound combined with whole-exome sequencing for the diagnosis of fetal congenital chloride diarrhea: a case report
Longfei SHI ; Xiangdang LONG ; Sui YAO ; Qiongli WEN ; Gang ZHONG ; Xuan CHEN ; Yongfang XI
Chinese Journal of Perinatal Medicine 2025;28(1):74-76
This paper reported a case of fetal congenital chloride diarrhea (CCD) indicated by prenatal ultrasound and confirmed by whole-exome sequencing. At 26 weeks and two days of gestation, a routine prenatal ultrasound revealed fetal bowel dilation and numerous floating echogenic particles in the amniotic fluid, suggesting the possibility of CCD. Multiple follow-up ultrasounds in late pregnancy showed persistent bowel dilation, polyhydramnios with numerous floating echogenic particles, and fetal development larger than the gestational age. Whole-exome sequencing and Sanger validation revealed two compound heterozygous mutations in the fetal SLC26A3 gene: c.2006C>A (p.S669*) inherited from the mother and c.1355T>A (p.L452Q) inherited from the father, leading to a diagnosis of CCD. Postnatally, the infant exhibited persistent watery diarrhea. Based on prenatal ultrasound and diagnostic results, the infant was immediately given intravenous and oral electrolyte supplementation after birth, preventing severe electrolyte imbalance. As of June 2024, the infant was five months old, with follow-up showing good growth and development.
2.Fetal heart quantification technology for assessing normal fetal cardiac morphology and function: a prospective cohort study
Qiuyi DI ; Xiangdang LONG ; Jing NING ; Sui YAO ; Qiaorong LI ; Yu ZHUO ; Xuan CHEN ; Longfei SHI
Chinese Journal of Perinatal Medicine 2025;28(3):211-218
Objective:To explore the value of fetal heart quantification technology in assessing the morphology and function of the fetal heart during normal pregnancy.Methods:This prospective cohort study selected normal fetuses from healthy pregnant women who underwent prenatal ultrasound examinations at Hunan Provincial People's Hospital from January 2023 to October 2024. Using the GE Voluson E10 color Doppler diasonography, routine obstetric ultrasound and fetal echocardiography were performed to assess fetal growth and development and to exclude intracardiac and extracardiac malformations. Clear four-chamber view (4CV) dynamic images of the heart showing the endocardium (duration ≥3 s) were collected. Speckle-tracking analysis was performed using fetal heart quantification software. The measured indicators included the global spherical index (GSI), end-diastolic length of the heart (L-ED), end-diastolic width of the heart (W-ED), and the global longitudinal strain (GLS), fractional area change (FAC), and 24-segment spherical index (SI) of the left ventricle (LV) and right ventricle (RV). The cases were divided into five groups based on gestational age at the time of prenatal ultrasound: 20 +0 to 23 +6, 24 +0 to 27 +6, 28 +0 to 31 +6, 32 +0 to 35 +6, and 36 +0 to 40 +6 weeks. One-way analysis of variance, two independent samples t-test, univariate linear regression analysis, and Pearson correlation analysis were used to explore the differences in the above indicators among different gestational age groups and their correlation with gestational age. Results:A total of 200 pregnant women were included in the cohort, four cases were excluded due to poor image quality that prevented accurate tracking and measurement of relevant indicators. Ultimately, 196 cases (20 +0 to 23 +6 weeks 40 cases, 24 +0 to 27 +6 weeks 34 cases, 28 +0 to 31 +6 weeks 41 cases, 32 +0 to 35 +6 weeks 48 cases, and 36 +0 to 40 +6 weeks 33 cases) were included in the study, with a successful image analysis rate of 98.0%. (1) There were statistically significant differences in 4CV L-ED, 4CV W-ED, LV-FAC, and RV-FAC among the groups at 20 +0 to 23 +6, 24 +0 to 27 +6, 28 +0 to 31 +6, 32 +0 to 35 +6, and 36 +0 to 40 +6 weeks [4CV L-ED: 28.0±3.0, 32.6±4.3, 40.9±4.3, 46.7±4.8, 53.1±5.8, F=3.72; 4CV W-ED: 21.9±1.8, 25.1±4.2, 31.7±3.0, 37.4±4.0, 42.0±4.9, F=2.61; LV-FAC: (51.4±8.0)%, (49.0±10.4)%, (47.3±7.3)%, (43.1±7.5)%, (40.7±8.2)%, F=2.94; RV-FAC: (49.9±10.8)%, (46.2±12.0)%, (46.3±8.3)%, (43.2±8.0)%, (41.9±5.6)%, F=3.09; all P<0.05].(2) The size of the normal fetal heart gradually increased with gestational age, while the heart morphology remained relatively stable (4CV L-ED and 4CV W-ED were positively correlated with gestational age, with regression coefficients of 1.313 and 1.325, respectively, both P<0.001;LV-FAC and RV-FAC were negatively correlated with gestational age with regression coefficients of -0.783 and -0.552, respectively, both P<0.001; GSI, LV-GLS and RV-GLS had no correlations with gestational age, all P>0.05). (3) The SI of LV segments 1 to 17 were higher than the SI of the corresponding RV segments, and the SI of RV segments 20-24 were higher than that of the corresponding LV segments (all P<0.001). Conclusion:Fetal heart quantification technology has a certain value in the assessment of fetal cardiac morphology and function.
3.Ultrasound combined with whole-exome sequencing for the diagnosis of fetal congenital chloride diarrhea: a case report
Longfei SHI ; Xiangdang LONG ; Sui YAO ; Qiongli WEN ; Gang ZHONG ; Xuan CHEN ; Yongfang XI
Chinese Journal of Perinatal Medicine 2025;28(1):74-76
This paper reported a case of fetal congenital chloride diarrhea (CCD) indicated by prenatal ultrasound and confirmed by whole-exome sequencing. At 26 weeks and two days of gestation, a routine prenatal ultrasound revealed fetal bowel dilation and numerous floating echogenic particles in the amniotic fluid, suggesting the possibility of CCD. Multiple follow-up ultrasounds in late pregnancy showed persistent bowel dilation, polyhydramnios with numerous floating echogenic particles, and fetal development larger than the gestational age. Whole-exome sequencing and Sanger validation revealed two compound heterozygous mutations in the fetal SLC26A3 gene: c.2006C>A (p.S669*) inherited from the mother and c.1355T>A (p.L452Q) inherited from the father, leading to a diagnosis of CCD. Postnatally, the infant exhibited persistent watery diarrhea. Based on prenatal ultrasound and diagnostic results, the infant was immediately given intravenous and oral electrolyte supplementation after birth, preventing severe electrolyte imbalance. As of June 2024, the infant was five months old, with follow-up showing good growth and development.
4.Fetal heart quantification technology for assessing normal fetal cardiac morphology and function: a prospective cohort study
Qiuyi DI ; Xiangdang LONG ; Jing NING ; Sui YAO ; Qiaorong LI ; Yu ZHUO ; Xuan CHEN ; Longfei SHI
Chinese Journal of Perinatal Medicine 2025;28(3):211-218
Objective:To explore the value of fetal heart quantification technology in assessing the morphology and function of the fetal heart during normal pregnancy.Methods:This prospective cohort study selected normal fetuses from healthy pregnant women who underwent prenatal ultrasound examinations at Hunan Provincial People's Hospital from January 2023 to October 2024. Using the GE Voluson E10 color Doppler diasonography, routine obstetric ultrasound and fetal echocardiography were performed to assess fetal growth and development and to exclude intracardiac and extracardiac malformations. Clear four-chamber view (4CV) dynamic images of the heart showing the endocardium (duration ≥3 s) were collected. Speckle-tracking analysis was performed using fetal heart quantification software. The measured indicators included the global spherical index (GSI), end-diastolic length of the heart (L-ED), end-diastolic width of the heart (W-ED), and the global longitudinal strain (GLS), fractional area change (FAC), and 24-segment spherical index (SI) of the left ventricle (LV) and right ventricle (RV). The cases were divided into five groups based on gestational age at the time of prenatal ultrasound: 20 +0 to 23 +6, 24 +0 to 27 +6, 28 +0 to 31 +6, 32 +0 to 35 +6, and 36 +0 to 40 +6 weeks. One-way analysis of variance, two independent samples t-test, univariate linear regression analysis, and Pearson correlation analysis were used to explore the differences in the above indicators among different gestational age groups and their correlation with gestational age. Results:A total of 200 pregnant women were included in the cohort, four cases were excluded due to poor image quality that prevented accurate tracking and measurement of relevant indicators. Ultimately, 196 cases (20 +0 to 23 +6 weeks 40 cases, 24 +0 to 27 +6 weeks 34 cases, 28 +0 to 31 +6 weeks 41 cases, 32 +0 to 35 +6 weeks 48 cases, and 36 +0 to 40 +6 weeks 33 cases) were included in the study, with a successful image analysis rate of 98.0%. (1) There were statistically significant differences in 4CV L-ED, 4CV W-ED, LV-FAC, and RV-FAC among the groups at 20 +0 to 23 +6, 24 +0 to 27 +6, 28 +0 to 31 +6, 32 +0 to 35 +6, and 36 +0 to 40 +6 weeks [4CV L-ED: 28.0±3.0, 32.6±4.3, 40.9±4.3, 46.7±4.8, 53.1±5.8, F=3.72; 4CV W-ED: 21.9±1.8, 25.1±4.2, 31.7±3.0, 37.4±4.0, 42.0±4.9, F=2.61; LV-FAC: (51.4±8.0)%, (49.0±10.4)%, (47.3±7.3)%, (43.1±7.5)%, (40.7±8.2)%, F=2.94; RV-FAC: (49.9±10.8)%, (46.2±12.0)%, (46.3±8.3)%, (43.2±8.0)%, (41.9±5.6)%, F=3.09; all P<0.05].(2) The size of the normal fetal heart gradually increased with gestational age, while the heart morphology remained relatively stable (4CV L-ED and 4CV W-ED were positively correlated with gestational age, with regression coefficients of 1.313 and 1.325, respectively, both P<0.001;LV-FAC and RV-FAC were negatively correlated with gestational age with regression coefficients of -0.783 and -0.552, respectively, both P<0.001; GSI, LV-GLS and RV-GLS had no correlations with gestational age, all P>0.05). (3) The SI of LV segments 1 to 17 were higher than the SI of the corresponding RV segments, and the SI of RV segments 20-24 were higher than that of the corresponding LV segments (all P<0.001). Conclusion:Fetal heart quantification technology has a certain value in the assessment of fetal cardiac morphology and function.
5.Genome-wide identification and expression pattern analysis of Eucommia ulmoides Trihelix gene family.
Jun LIU ; Jie-Feng KOU ; Cong-Long LIAN ; Rui MA ; Wei-Meng FENG ; Bao ZHANG ; Jin-Xu LAN ; Sui-Qing CHEN
China Journal of Chinese Materia Medica 2024;49(22):6093-6106
Trihelix transcription factors play important roles in plant light responses, growth and development, and stress responses. However, Trihelix has not yet been reported in Eucommia ulmoides. In this study, bioinformatics methods were used to comprehensively identify and analyze the expression patterns of the Trihelix gene family in E. ulmoides, aiming to provide a basis for further functional studies of EuGTs genes. A total of 9 Trihelix gene family members were identified in E. ulmoides, encoding proteins with 339 to 883 amino acids, with isoelectric points ranging from 5.13 to 9.39 and relative molecular weights between 36 992.06 and 97 871.61. Subcellular localization results showed that only EuGT-2 was localized in chloroplasts, while the others were located in the nucleus. The Trihelix gene family was categorized into six subfamilies: GT-1, GT-2, SH4, SIP1, GTγ, and GTδ. EuGTs were distributed among three subfamilies: SH4, GT-1, and GT-2, containing 1, 6, and 2 Trihelix proteins, respectively, with 2 to 17 exons. The promoters of EuGTs contained various cis-acting elements related to hormones, stress, photoperiod, and growth and development. Collinearity analysis revealed 5 collinear gene pairs between E. ulmoides and Arabidopsis thaliana, and 14 collinear gene pairs between E. ulmoides and Populus. Expression pattern analysis showed that EuGTs exhibited tissue-specific expression: EuGT-1, EuGT-2 had the highest expression levels in leaves, EuGT-4, EuGT-6, EuGT-9 had the highest transcriptional levels in marginal peel, and EuGT-5、EuGT-8 were predominantly expressed in the xylem. As leaves developed, EuGTs showed a trend of asynchronous changes. No significant differences in EuGTs expression were observed between male and female flowers, with high expression levels mainly during the induction stage of flowering. The qRT-PCR analysis indicated that most EuGTs genes were most highly expressed in the leaves of E. ulmoides, while EuGT-5 was highly expressed in the stems. Under 200 mmol·L~(-1) NaCl treatment, most EuGTs genes exhibited an initial increase followed by a decrease in expression, significantly responding to salt stress. This study provides important genetic resources for further exploration of EuGTs gene functions and germplasm innovation in E. ulmoides.
Plant Proteins/metabolism*
;
Gene Expression Regulation, Plant
;
Eucommiaceae/chemistry*
;
Phylogeny
;
Multigene Family/genetics*
;
Gene Expression Profiling
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Transcription Factors/metabolism*
;
Genome, Plant/genetics*
6.Genomic information mining reveals Rehmannia glutinosa growth-promoting mechanism of endophytic bacterium Kocuria rosea.
Lin-Lin WANG ; Gui-Xiao LA ; Xiu-Hong SU ; Lin-Lin YANG ; Lei-Xia CHU ; Jun-Qi GUO ; Cong-Long LIAN ; Bao ZHANG ; Cheng-Ming DONG ; Sui-Qing CHEN ; Chun-Yan WANG
China Journal of Chinese Materia Medica 2024;49(22):6119-6128
This study explored the growth-promoting effect and mechanism of the endophytic bacterium Kocuria rosea on Rehmannia glutinosa, aiming to provide a scientific basis for the development of green bacterial fertilizer. R. glutinosa 'Jinjiu' was treated with K. rosea, and the shoot parameters including leaf length, leaf width, plant width, and stem diameter were measured every 15 days. After 120 days, the shoots and roots were harvested. The root indicators(root number, root length, root diameter, root fresh weight, root dry weight, root volume, and root vitality) and secondary metabolites(catalpol, rehmannioside A, rehmannioside D, verbascoside, and leonuride) were determined. The R. glutinosa growth-promoting mechanism of K. rosea was discussed from the effect of K. rosea on the nutrient element content in R. glutinosa and rhizosphere soil and the genome information of this plant. After application of K. rosea, the maximum increases in leaf length, leaf width, plant width, and stem diameter were 35.67%(60 d), 25.39%(45 d), 40.17%(60 d), and 113.85%(45 d), respectively. The root number, root length, root diameter, root volume, root fresh weight, root dry weight, and root viability increased by 41.71%, 45.10%, 48.61%, 94.34%, 101.55%, 147.61%, and 42.08%, respectively. In addition, the content of rehmannioside A and verbascoside in the root of R. glutinosa increased by 76.67% and 69.54%, respectively. K. rosea promoted the transformation of nitrogen(N), phosphorus(P), and potassium(K) in the rhizosphere soil into the available state. Compared with that in the control, the content of available N(54.60 mg·kg~(-1)), available P(1.83 μmol·g~(-1)), and available K(83.75 mg·kg~(-1)) in the treatment with K. rosea increased by 138.78%, 44.89%, and 14.34%, respectively. The content of N, P, and K in the treatment group increased by 293.22%, 202.63%, and 23.80% in the roots and by 23.60%, 107.23%, and 134.53% in the leaves of R. glutinosa, respectively. K. rosea carried the genes related to colonization(rbsB, efp, bcsA, and gmhC), N, P, and K metabolism(narG, narH, narI, nasA, nasB, GDH2, pyk, aceB, ackA, CS, ppa, ppk, ppk2, pstS, pstA, pstB, and pstC), and indole-3-acetic acid and zeatin synthesis(iaaH and miaA). Further studies showed that K. rosea could colonize the roots of R. glutinosa and secrete indole-3-acetic acid(3.85 μg·mL~(-1)) and zeatin(0.10 μg·mL~(-1)). In summary, K. rosea promotes the growth of R.ehmannia glutinosa by enhancing the nutrient uptake, which provides a theoretical basis for the development of plant growth-promoting microbial products.
Rehmannia/metabolism*
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Endophytes/metabolism*
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Plant Roots/growth & development*
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Micrococcaceae/genetics*
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Data Mining
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Plant Leaves/metabolism*
;
Genomics
;
Rhizosphere
7.Cervical HSIL patients at childbearing age:clinical efficacy and pregnancy outcome of CO2 laser ablation and LEEP
Qing LI ; Hong-Wei ZHANG ; Li-Mei CHEN ; Qing CONG ; Qing WANG ; Long SUI ; Ke-Qin HUA
Fudan University Journal of Medical Sciences 2024;51(5):677-683
Objective To compare the clinical efficacy and pregnancy outcomes of CO2 laser and loop electrosurgical excision procedure(LEEP)surgery in the treatment of cervical high-grade squamous intraepithelial lesion(HSIL)in women of childbearing age.Methods Patients with cervical HSIL of appropriate reproductive age(20-34 years old)who underwent satisfied colposcope,subsequently treated with laser or LEEP between Jan 2019 and Dec 2021 in Obstetrics and Gynecology Hospital,Fudan University were collected.All the patients were interpreted as transformation zone(TZ)type 1/2,and colposcopy biopsy diagnosed as cervical high-grade squamous intraepithelial lesion(HSIL)and received laser or LEEP according to the physician's advice and the patient's wishes.The effectiveness of the two surgeries was evaluated,and postoperative cytology,HPV result,and colposcopic pathology were compared.We monitored the surgical pregnancy rate,pregnancy complications,and pregnancy results after the surgery.Results A total of 566 cases,including 233 laser cases and 333 LEEP cases,were enrolled.There was no significant difference between the two groups in terms of preoperative cytology,HPV distribution,or the length of cervical canal.After 6 months of surgery,91.5%of patients who underwent laser therapy and 86.9%of those who underwent LEEP had normal cytology.The histology cure rate was 91.5%and the HPV conversion rate was 74.6%in both groups.The results of cytology,HPV,and colposcopic pathology had no significant difference between the two groups.The length of postoperative cervical canal was significantly longer in laser group than that in LEEP group[(29.09±3.15)mm vs.(27.05±3.84)mm,P<0.001].There was no statistically significant difference in postoperative pregnancy rate and pregnancy outcome between the two groups.Conclusion Laser ablation and LEEP produce comparable effects pregnancy outcomes in cervical HSIL patients with TZ types 1 and 2,while LEEP has pathologic feedback,so its misdiagnosis of invasive cancer reduce.
8.Comparison of three different modes of hysteroscopic surgery:outpatient,daily and inpatient
Li-Mei CHEN ; Pei-Qing QUAN ; Hong-Wei ZHANG ; Yan-Yun LI ; Yuan-Kui CAO ; Qing LI ; Qi ZHOU ; Qing WANG ; Long SUI
Fudan University Journal of Medical Sciences 2024;51(5):742-748
Objective To explore the safety and management mode of hysteroscopy in three different modes:outpatient,daily and inpatient.Methods The quality control data of patients who underwent hysteroscopic surgery in Hysterscopy Centre,Obstetrics and Gynecology Hospital,Fudan University from Jan 2019 to Dec 2021 were collected through the electronic information system of the hospital and the monthly quality control report of hysteroscopy center.The amount of surgery,the proportion of grade Ⅳsurgery,the analysis of operation types,the indicator including complications,and unanticipated secondary surgery were retrospectively analyzed.Results From 2019 to 2021,5 162 outpatient hysteroscopic patients,15 331 daily hysteroscopic patients and 5 942 inpatient hysteroscopic patients were admitted in our hospital.The age of inpatient hysteroscopic patients was significantly older than those of outpatient and daily patients(P<0.001).In the past three years,the proportion of daily hysteroscopy gradually increased,and the proportion of inpatient hysteroscopy gradually decreased(P<0.001).The total percentage of grade Ⅳ hysteroscopic surgery was 12.9%,in which inpatient was higher than daily,and daily was higher than outpatient(P<0.001).The incidence of complications and accidents during hysteroscopy was 0.117%(31/26 435),including 17 cases of uterine perforation,7 cases of hysteroscopy failure,3 cases of excessive intraoperative bleeding,2 cases of fluid overload,1 case of intestinal injury,and 1 case of anesthesia accident.The incidence of hysteroscopy in outpatient,daily and inpatient were 0.020%(1/5 162),0.137%(21/15 331)and 0.151%(9/5 942)respectively.Conclusion Hysteroscopy in outpatient,daily and inpatient are all safe and reliable.Outpatient and daily hysteroscopy can improve the efficiency of medical services,which has gradually become a trend.
9.Clinical application of vaginoscopy technology in the diagnosis and treatment of uterine cavity diseases in women with asexual life history
Ting-Ting SU ; Hong-Wei ZHANG ; Qing WANG ; Feng XIE ; Qing CONG ; Yan-Yun LI ; Long SUI ; Li-Mei CHEN
Fudan University Journal of Medical Sciences 2024;51(5):772-777
Objective To explore the clinical value of vaginoscopy in the diagnosis and treatment of uterine cavity diseases in virgins.Methods We retrospectively reviewed the data of 450 patients who underwent vaginoscopy and traditional hysteroscopy in Obstetrics and Gynecology Hospital,Fudan University from Jan 2020 to Dec 2023,including vaginoscopy group(n=232)and traditional hysteroscopy group(n=218).The average ages of the two groups were 24.9±4.7 years and 25.5±5.4 years,and there was no significant difference between the two groups(P>0.05).The operation time,estimated blood loss,fluid deficit,false passage,surgical failure,incidence of complications and postoperative pain score were compared between vaginoscopy group and traditional hysteroscopy group.Results Compared with the traditional hysteroscopy group,the average operation time in the vaginoscopy group was shorter,the fluid deficit was less,and the VAS pain score was lower,but the rate of surgical failure was higher(7.8%vs.0),all the differences were statistically significant(P<0.05).In terms of complications,the incidence of false passage in the vaginoscopy group was less(0 vs.3.2%)and the rate of hymen injury was lower(0 vs.85.3%),the differences were statistically significant(P<0.05).There was no significant difference in the estimated blood loss between the two groups,and the incidence of postoperative infection was similar in both groups.There were no complications such as uterine perforation and air embolism in both groups.Conclusion Vaginoscopy is safe and effective,more minimally invasive than traditional hysteroscopy,does not damage the hymen,and is suitable for virgins.This technology is worthy of clinical application.
10.Clinical application of a novel hysteroscopic LNG-IUS fixation at the fundus of uterus
Li-Mei CHEN ; Long SUI ; Hong-Wei ZHANG
Fudan University Journal of Medical Sciences 2024;51(6):997-1001
Objective To explore the feasibility and clinical effects of a novel hysteroscopic levonorgestrel-releasing intrauterine system(LNG-IUS)fixation at the fundus of uterus.Methods From Aug 2023 to Jan 2024,a prospective and novel hysteroscopic LNG-IUS fixation at the fundus of uterus surgery was performed at Obstetrics and Gynecology Hospital,Fudan University.The patient's clinical symptoms,surgical time,surgical complications,postoperative LNG-IUS expulsion,and other follow-up information were recorded.Results A total of 21 patients were included in this study,with an average age of(37.8±6.8)years old.The average uterine depth was(9.06±0.74)cm.Among them,8 cases had a history of LNG-IUS expulsion(uterine depth>8.5 cm in 5 cases,uterine depth≤8.5 cm in 3 cases,but the cervical canal was relatively loose),and other 13 cases had no history of LNG-IUS expulsion,but the uterine depth was all deeper than 8.5 cm.The average surgical time was(14.0±4.3)minutes,and the average intraoperative blood loss was(4.5±3.3)mL.All patients did not experience complications such as uterine perforation,massive bleeding,fluid overload,or postoperative infection.The average follow-up time after surgery was(3.2±0.8)months,and there was no LNG-IUS expulsion occured.The pain assessment and mean menstrual flow after operation were less than those before operation,and the endometrial thickness and mean uterine volume after operation were lower than those before operation,with statistically significant differences.For patients with dysmenorrhea,the postoperative relief rate was 95.0%(19/20),and for those with excessive menstruation,the postoperative effective rate reached 94.4%(17/18).The main adverse reaction was irregular vaginal bleeding,with an incidence rate of 57.1%(12/21).Conclusion Hysteroscopic LNG-IUS fixation at the fundus of uterus is safe and effective.The procedure is simple,minimally invasive,has a short surgical time,minimal bleeding,and fast recovery.It is suitable for patients with dysmenorrhea,excessive menstruation,or large uterine cavity who have previously experienced LNG-IUS expulsion.

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