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.Value of pulmonary transit time by contrast-enhanced echocardiography in evaluating cardiac dysfunction in patients with ST-elevation myocardial infarction after PCI
Ziqin LIU ; Xin ZHONG ; Yongjun HU ; Huiping YOU ; Xu XIE ; Yutao ZHANG ; Xiangdang LONG
Chinese Journal of Ultrasonography 2025;34(8):670-677
Objective:To explore the value of contrast-enhaoced echocardiography for measuring pulmonary transit time(PTT)in assessing heart failure after percutaneous coronary intervention(PCI)in acute ST-segment elevation myocardial infarction(STEMI)patients.Methods:From September 2023 to September 2024,120 patients with STEMI undergoing PCI at Hunan Provincial People's Hospital were prospectively selected and divided into a heart failure group( n=42)and a non-heart failure group( n=78)according to the guidelines. The differences in general clinical data,laboratory parameters,and echocardiographic parameters between the two groups were compared. The diagnostic efficacies of PTT,normalized PTT(nPTT),and N-terminal pro-B-type natriuretic peptide(NT-proBNP)were analyzed. Consistency between them and New York Heart Association(NYHA)heart function classification was tested. Results:Compared to the non-heart failure group,the NT-proBNP,PTT,and nPTT values in the heart failure group were significantly increased(all P<0.05). The area under the curve(AUC)of nPTT was 0.944,better than that of PTT and NT-proBNP(AUC=0.871,0.887). After K-means clustering reclassified patients into four levels based on nPTT values,nPTT classification showed moderate consistency with NYHA classification(Kappa=0.580, P<0.001),and nPTT differed significantly across NYHA classifications( P<0.05). Conclusions:PTT,as an echocardiographic index for assessing cardiac function,has similar diagnostic efficacy to NT-proBNP,the nPTT is even better. It shows moderate consistency with the NYHA classification and holds potential for differentiating overlapping NYHA grades. Importantly,it offers a fresh objective way to evaluate cardiac dysfunction after PCI in STEMI patients.
4.Research progresses of ultrasound combined with artificial intelligence for evaluating hepatic fibrosis
Chinese Journal of Medical Imaging Technology 2025;41(6):997-1000
Chronic liver disease is one of the leading causes of death worldwide.Accurate early assessment of the severity of hepatic fibrosis is crucial for management of liver disease.Ultrasonography,with its non-invasive,portable and real-time imaging characteristics,has become the preferred method for imaging evaluation of chronic liver diseases.Artificial intelligence(AI)technology can extract massive quantitative features from ultrasound images for subsequent analysis,hence attracted increasing attention in evaluation of hepatic fibrosis.The research progresses of ultrasound combined with AI for evaluating hepatic fibrosis were reviewed in this article.
5.Value of pulmonary transit time by contrast-enhanced echocardiography in evaluating cardiac dysfunction in patients with ST-elevation myocardial infarction after PCI
Ziqin LIU ; Xin ZHONG ; Yongjun HU ; Huiping YOU ; Xu XIE ; Yutao ZHANG ; Xiangdang LONG
Chinese Journal of Ultrasonography 2025;34(8):670-677
Objective:To explore the value of contrast-enhaoced echocardiography for measuring pulmonary transit time(PTT)in assessing heart failure after percutaneous coronary intervention(PCI)in acute ST-segment elevation myocardial infarction(STEMI)patients.Methods:From September 2023 to September 2024,120 patients with STEMI undergoing PCI at Hunan Provincial People's Hospital were prospectively selected and divided into a heart failure group( n=42)and a non-heart failure group( n=78)according to the guidelines. The differences in general clinical data,laboratory parameters,and echocardiographic parameters between the two groups were compared. The diagnostic efficacies of PTT,normalized PTT(nPTT),and N-terminal pro-B-type natriuretic peptide(NT-proBNP)were analyzed. Consistency between them and New York Heart Association(NYHA)heart function classification was tested. Results:Compared to the non-heart failure group,the NT-proBNP,PTT,and nPTT values in the heart failure group were significantly increased(all P<0.05). The area under the curve(AUC)of nPTT was 0.944,better than that of PTT and NT-proBNP(AUC=0.871,0.887). After K-means clustering reclassified patients into four levels based on nPTT values,nPTT classification showed moderate consistency with NYHA classification(Kappa=0.580, P<0.001),and nPTT differed significantly across NYHA classifications( P<0.05). Conclusions:PTT,as an echocardiographic index for assessing cardiac function,has similar diagnostic efficacy to NT-proBNP,the nPTT is even better. It shows moderate consistency with the NYHA classification and holds potential for differentiating overlapping NYHA grades. Importantly,it offers a fresh objective way to evaluate cardiac dysfunction after PCI in STEMI patients.
6.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.
7.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.
8.Research progresses of ultrasound combined with artificial intelligence for evaluating hepatic fibrosis
Chinese Journal of Medical Imaging Technology 2025;41(6):997-1000
Chronic liver disease is one of the leading causes of death worldwide.Accurate early assessment of the severity of hepatic fibrosis is crucial for management of liver disease.Ultrasonography,with its non-invasive,portable and real-time imaging characteristics,has become the preferred method for imaging evaluation of chronic liver diseases.Artificial intelligence(AI)technology can extract massive quantitative features from ultrasound images for subsequent analysis,hence attracted increasing attention in evaluation of hepatic fibrosis.The research progresses of ultrasound combined with AI for evaluating hepatic fibrosis were reviewed in this article.
9.High-frequency ultrasound for measuring thickness of inferior glenohumeral joint capsule
Yingxin SU ; Shenyi LI ; Yi ZHANG ; Xiangdang LONG ; Xi LI ; Mengzhe YANG ; Yi XIAO
Chinese Journal of Interventional Imaging and Therapy 2024;21(8):453-456
Objective To observe whether there was difference of inferior glenohumeral joint capsule thickness(ICT)measured on coronal and transverse axillary section with high-frequency ultrasound.Methods ICT of 56 patients with frozen shoulder(FS group)and 115 healthy controls(HC group)were measured on coronal and transverse axillary sections with high-frequency ultrasound.The ultrasonic findings were compared between groups,while ICT measured on different sections were compared within groups.Results In FS group,ICT thickened,presented as low echo with poor boundary clarity,with reduced and uneven internal echo.No echo areas could be detected when there was fluid accumulation,and concomitant blood flow signal could be observed.In HC group,the inferior glenohumeral joint capsule presented as moderate echo with clear boundary,with uniform low or equal echo.No significant difference of ICT values measured on coronal or transverse section was found within both groups(both P>0.05).Conclusion ICT measured on coronal and transverse axillary section with high-frequency ultrasound were not significantly different.
10.Application progress of imaging examination in the diagnosis of urethral stricture
Rong XUE ; Xiangdang LONG ; Mingqiang ZENG
Journal of Modern Urology 2023;28(5):450-454
Urethra stricture is one of the most common diseases of the urinary system. Accurate imaging diagnosis is key to the selection of surgical approach. At present, X-ray urethral imaging can show the form of urethra cavity, but not the tissues around the urethra. Sonourethrography (SUG) can dynamically identify the urethral cavity and the surrounding tissues without radiation exposure. Multi-layer spiral CT urethrography (CTU) has advantages of no need to adjust the position, quick scanning and reconstruction of the three-dimensional image, which can accurately show the location, length and degree of urethral stricture, and the spatial relationship with the surrounding tissues. Magnetic resonance urethrography (MRU) can provide useful information of the urethral stricture and soft tissues around the urethra, especially in urethral strictures caused by pelvic fractures and complex urethral stenosis. The choice of imaging method should be based on the etiology, anatomy, types of urethral injury and the general situation of patients. Appropriate imaging method can improve the diagnostic accuracy.

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