1.Research progress in placental microvascular imaging technology
Hairui WANG ; Jiancheng HAN ; Yihua HE
Chinese Journal of Ultrasonography 2025;34(2):180-184
The placenta is a regulator of maternal-fetal circulation,regulating nutrient and waste exchange,endocrine function,and immune response. The placental vascular structure is the basis of the placental exchange function and the key to maternal-fetal circulation. Placental vascular changes may affect fetal growth and cardiovascular development,and even the origin of postnatal health and disease. The placenta is crucial in fetal growth and development and future health,but our understanding of placental vascular structure is still insufficient. This article reviews the imaging methods and progress of placental imaging,focusing on the placental microvascular imaging technology,which aims to provide a method reference for prenatal evaluation and monitoring of placental vascular structure by realizing the visualization of placental vascular structure. Based on this new technology,it is expected to provide new ideas for the study of the hemodynamic mechanisms of fetal growth and cardiovascular development in the future.
2.Fetal common arterial trunk:echocardiographic and genetic characteristics
Lin SUN ; Jiancheng HAN ; Ying ZHAO ; Xiaoyan HAO ; Hairui SUN ; Yanping RUAN ; Tong YI ; Xiaoyan GU ; Chao XUE ; Ye ZHANG ; Zhuo CHEN ; Yong GUO ; Zhongshan GOU ; Yuwei FU ; Yihua HE
Chinese Journal of Ultrasonography 2025;34(6):504-510
Objective:To analyze the echocardiographic and genetic characteristics of fetuses with common arterial trunk(CAT).Methods:A retrospective analysis was conducted on 77 480 fetal echocardiograms examined at the Maternal-Fetal Medicine center in Fetal Heart Disease of Beijing Anzhen Hospital from November 2010 to November 2024.Among them,106 fetuses were initially diagnosed with CAT,and 95 cases were ultimately confirmed(0.1%,95/77 480). The echocardiographic and genetic features of CAT fetuses were analyzed. According to the modified Van Praagh classification,CAT was divided into types A1-A4[with ventricular septal defect(VSD)]and B1-B4(without VSD)based on the origin of the pulmonary artery branches and the presence or absence of a VSD. Additionally,CAT was categorized into isolated and complex types based on the presence of associated intracardiac or extracardiac anomalies.Results:① Among the 95 confirmed CAT fetuses,type A accounted for 90.5%(86/95),and type B accounted for 9.5%(9/95). All 9 type B CAT fetuses exhibited no overriding of the arterial trunk , with 8 cases showing left ventricular hypoplasia accompanied by mitral atresia or absence.② Of the 95 CAT fetuses,14 were isolated(14.7%,14/95) , and 81 were complex(85.3%,81/95).The main associated intracardiac anomalies included:single ventricle(22 cases),complete atrioventricular septal defect(12 cases),anomalous pulmonary venous drainage(10 cases),right aortic arch with mirror-image branching(16 cases),and persistent left superior vena cava(14 cases). ③ Genetic testing was performed in 31 fetuses,with 18 showing positive results,primarily 22q11.21 deletion syndrome(29.0%,9/31). Conclusions:Apart from VSD,the most common intracardiac anomaly associated with CAT fetuses is single ventricle. Type B CAT without trunk overriding is often associated with left ventricular hypoplasia and mitral atresia or absence. The most frequent genetic abnormality in CAT fetuses is 22q11.21 deletion syndrome. Prenatal echocardiography should clarify the CAT subtype and associated anomalies,and genetic testing is strongly recommended for perinatal counseling and prognostic evaluation.
3.Progress of neurodevelopmental imaging assessment and pathogenesis in children with congenital heart disease
Hairui WANG ; Jiancheng HAN ; Yihua HE
Chinese Journal of Ultrasonography 2025;34(7):637-642
With advancements in prenatal diagnostic technology and postnatal clinical rescue,the survival rate of children with congenital heart disease(CHD)has significantly improved. However,neurodevelopmental delay or disorder has become the most common complication,profoundly affecting the quality of life throughout their lifetime. The risk factors and pathogenic mechanisms underlying CHD associated neurodevelopmental abnormalities remain unclear. This paper focus on the current status of neurodevelopmental outcomes in children with CHD and the potential risk factors,summarize prenatal and postnatal imaging methods for neurodevelopmental assessment,explore possible pathogenic mechanisms,and outline an integrated prenatal and postnatal neurodevelopmental evaluation framework for CHD patients. This review aims to provide comprehensive literature support for both scientific research and clinical evaluation of neurodevelopment in children with CHD.
4.Research progress in placental microvascular imaging technology
Hairui WANG ; Jiancheng HAN ; Yihua HE
Chinese Journal of Ultrasonography 2025;34(2):180-184
The placenta is a regulator of maternal-fetal circulation,regulating nutrient and waste exchange,endocrine function,and immune response. The placental vascular structure is the basis of the placental exchange function and the key to maternal-fetal circulation. Placental vascular changes may affect fetal growth and cardiovascular development,and even the origin of postnatal health and disease. The placenta is crucial in fetal growth and development and future health,but our understanding of placental vascular structure is still insufficient. This article reviews the imaging methods and progress of placental imaging,focusing on the placental microvascular imaging technology,which aims to provide a method reference for prenatal evaluation and monitoring of placental vascular structure by realizing the visualization of placental vascular structure. Based on this new technology,it is expected to provide new ideas for the study of the hemodynamic mechanisms of fetal growth and cardiovascular development in the future.
5.Fetal common arterial trunk:echocardiographic and genetic characteristics
Lin SUN ; Jiancheng HAN ; Ying ZHAO ; Xiaoyan HAO ; Hairui SUN ; Yanping RUAN ; Tong YI ; Xiaoyan GU ; Chao XUE ; Ye ZHANG ; Zhuo CHEN ; Yong GUO ; Zhongshan GOU ; Yuwei FU ; Yihua HE
Chinese Journal of Ultrasonography 2025;34(6):504-510
Objective:To analyze the echocardiographic and genetic characteristics of fetuses with common arterial trunk(CAT).Methods:A retrospective analysis was conducted on 77 480 fetal echocardiograms examined at the Maternal-Fetal Medicine center in Fetal Heart Disease of Beijing Anzhen Hospital from November 2010 to November 2024.Among them,106 fetuses were initially diagnosed with CAT,and 95 cases were ultimately confirmed(0.1%,95/77 480). The echocardiographic and genetic features of CAT fetuses were analyzed. According to the modified Van Praagh classification,CAT was divided into types A1-A4[with ventricular septal defect(VSD)]and B1-B4(without VSD)based on the origin of the pulmonary artery branches and the presence or absence of a VSD. Additionally,CAT was categorized into isolated and complex types based on the presence of associated intracardiac or extracardiac anomalies.Results:① Among the 95 confirmed CAT fetuses,type A accounted for 90.5%(86/95),and type B accounted for 9.5%(9/95). All 9 type B CAT fetuses exhibited no overriding of the arterial trunk , with 8 cases showing left ventricular hypoplasia accompanied by mitral atresia or absence.② Of the 95 CAT fetuses,14 were isolated(14.7%,14/95) , and 81 were complex(85.3%,81/95).The main associated intracardiac anomalies included:single ventricle(22 cases),complete atrioventricular septal defect(12 cases),anomalous pulmonary venous drainage(10 cases),right aortic arch with mirror-image branching(16 cases),and persistent left superior vena cava(14 cases). ③ Genetic testing was performed in 31 fetuses,with 18 showing positive results,primarily 22q11.21 deletion syndrome(29.0%,9/31). Conclusions:Apart from VSD,the most common intracardiac anomaly associated with CAT fetuses is single ventricle. Type B CAT without trunk overriding is often associated with left ventricular hypoplasia and mitral atresia or absence. The most frequent genetic abnormality in CAT fetuses is 22q11.21 deletion syndrome. Prenatal echocardiography should clarify the CAT subtype and associated anomalies,and genetic testing is strongly recommended for perinatal counseling and prognostic evaluation.
6.Progress of neurodevelopmental imaging assessment and pathogenesis in children with congenital heart disease
Hairui WANG ; Jiancheng HAN ; Yihua HE
Chinese Journal of Ultrasonography 2025;34(7):637-642
With advancements in prenatal diagnostic technology and postnatal clinical rescue,the survival rate of children with congenital heart disease(CHD)has significantly improved. However,neurodevelopmental delay or disorder has become the most common complication,profoundly affecting the quality of life throughout their lifetime. The risk factors and pathogenic mechanisms underlying CHD associated neurodevelopmental abnormalities remain unclear. This paper focus on the current status of neurodevelopmental outcomes in children with CHD and the potential risk factors,summarize prenatal and postnatal imaging methods for neurodevelopmental assessment,explore possible pathogenic mechanisms,and outline an integrated prenatal and postnatal neurodevelopmental evaluation framework for CHD patients. This review aims to provide comprehensive literature support for both scientific research and clinical evaluation of neurodevelopment in children with CHD.
7.Application strategy of the"You Gu Wu Yun"theory to reduce the toxicity of traditional Chinese medicine from the perspective of"traditional Chinese medicine state"
Shijie QIAO ; Zongchen WEI ; Ziyao CAI ; Chao FU ; Shunan LI ; Zhanglin WANG ; Liqing HUANG ; Kang TONG ; Wen TANG ; Zhibin WANG ; Hairui HAN ; Duoduo LIN ; Shaodong ZHANG ; Huangwei LEI ; Yang WANG ; Candong LI
Journal of Beijing University of Traditional Chinese Medicine 2024;47(11):1506-1511
Based on the"You Gu Wu Yun"theory in traditional Chinese medicine(TCM),this paper believes that"Gu"in"You Gu Wu Yun"is extended to"state"from the perspective of"TCM state".In order to avoid the adverse reactions of TCM,the macro,meso,and micro three views should be used together,and macro,meso,and micro parameters should be integrated.We should also carefully identify the physiological characteristics,pathological characteristics,constitution,syndrome,and disease of human body by combining qualitative and quantitative method,highlighting the relationship between the prescription and the"state".The correspondence between prescription and the"state"will reduce the risk of adverse reactions of TCM.In this paper,we hope to focus on the guiding role of the"You Gu Wu Yun"theory in TCM research,to give full play to the characteristics and advantages of TCM,and to dialectically treat the role of TCM.
8.Thinking on compatibility of prescription and drugs based on perspective of combination of disease, syndrome, and symptom
Zhibin WANG ; Wen TANG ; Kang TONG ; Weijie HUANG ; Binbin CHEN ; Shijie QIAO ; Hairui HAN ; Candong LI ; Yang WANG
Journal of Beijing University of Traditional Chinese Medicine 2024;47(7):929-933
In the context of the complex and ever-changing spectrum of diseases, the traditional Chinese medicine compatibility of prescription and drugs is no longer able to fully meet the needs of clinical diagnosis and treatment. Therefore, this article is based on the diagnosis and treatment model of the combination of disease, syndrome, and symptom, combined with the development achievements of Western medicine, and explores the principles of formulating traditional prescriptions based on the combination of chief, deputy, assistant, and envoy. This article proposes a formulation principle of composing prescriptions with the diagnosis of syndrome as the chief, the diagnosis of disease as the deputy, the treatment of symptoms as the assistant, and the harmonization of medicine as the envoy. This forms a treatment plan with the core link of syndrome differentiation and treatment, disease differentiation and treatment, symptomatic treatment, detoxification, and efficacy enhancement. The purpose of this article is to address the current clinical challenges such as an increasing disease spectrum and the complexity of syndrome patterns and symptom clusters. It aims to provide new insights into traditional Chinese medicine clinical treatment plans and herbal formulation strategies, with the ultimate goal of improving the clinical effectiveness of traditional Chinese medicine.
9.New interpretation of the theoretical connotation of the correspondence between prescription and syndrome from the longitudinal perspective of"traditional Chinese medicine state"
Shijie QIAO ; Chao FU ; Ziyao CAI ; Wen TANG ; Zhanglin WANG ; Zhibin WANG ; Kang TONG ; Mingzhu LI ; Hairui HAN ; Duoduo LIN ; Shaodong ZHANG ; Huangwei LEI ; Yang WANG ; Candong LI
Journal of Beijing University of Traditional Chinese Medicine 2024;47(6):760-764
The correspondence between prescription and syndrome is the advantage and characteristic of traditional Chinese medicine(TCM)treatment.However,the pathogenesis of clinical diseases is complex and the condition is changeable,and the clinical application is difficult to achieve the maximum effect under the existing cognition of the correspondence between prescription and syndrome.In this paper,the five categories of physiological characteristics,pathological characteristics,constitution,syndrome,and disease of the longitudinal classification of"TCM state"are introduced into the correspondence of prescription and syndrome.Under the vertical perspective of"TCM state",the theoretical connotation of the correspondence between prescription and syndrome is interpreted as"correspondence between prescription and state",namely correspondence of"prescription-physiological characteristics",correspondence of"prescription-pathological characteristics",correspondence of"prescription-constitution",correspondence of"prescription-syndrome",and correspondence of"prescription-disease".It is hoped to accurately grasp the corresponding connotation of the correspondence between prescription and syndrome,in order to deepen the clinical thinking mode of TCM.
10.Clinical and genetic characteristics of 12 cases of Loeys-Dietz syndrome.
Jiaqi FAN ; Hairui SUN ; Xin WANG ; Yuduo WU ; Siyao ZHANG ; Xiaoyan HAO ; Jiancheng HAN ; Xiaoyan GU ; Ye ZHANG ; Lin SUN ; Yihua HE
Chinese Journal of Medical Genetics 2023;40(9):1093-1099
OBJECTIVE:
To summarize the clinical features and spectrum of genetic variants in 12 patients with Loeys-Dietz syndrome (LDS), and to explore the correlation between the type of genetic variants and clinical phenotypes.
METHODS:
Twelve patients suspected for LDS at Beijing Anzhen Hospital Affiliated to Capital Medical University from January 2015 to January 2022 were selected as the study subjects. Clinical data of the patients were collected. Genomic DNA was extracted from peripheral blood samples and subjected to genetic testing. Pathogenicity of candidate variants was analyzed.
RESULTS:
The clinical phenotypes of the 12 patients have mainly included cardiovascular, musculoskeletal, craniofacial, skin, ocular and other systemic signs. Four patients (patients 5-1, 5-2, 6, 7) have carried heterozygous missense variants of the TGFBR1 gene, 5 patients (patients 1-1, 1-2, 2, 3, 4) have carried heterozygous variants of the TGFBR2 gene, and 2 patients (patients 8-1, 8-2) had carried heterozygous frameshift variants of the TGFB3 gene. One patient (patient 9) had carried a heterozygous missense variant of the SMAD3 gene. Among these, TGFBR1 c.603T>G (p.1201M) and TGFB3 c.536delA (p.H179FS35) had not been reported previously.
CONCLUSION
Variants of the TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3 and SMAD2 genes are mainly associated with LDS. The severity of the disease phenotype caused by the same variant may vary, whilst the clinical phenotype caused by different variant sites may be specific.
Humans
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Loeys-Dietz Syndrome/genetics*
;
Receptor, Transforming Growth Factor-beta Type I/genetics*
;
Receptor, Transforming Growth Factor-beta Type II/genetics*
;
Transforming Growth Factor beta3
;
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