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.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.
3.Research on healthy city construction strategies based on Grounded Theory:A case study of Hubei Province
Jin-Hui SUI ; Nan-Xi CHEN ; Chen CHEN ; Shao-Tang WU
Chinese Journal of Health Policy 2024;17(8):36-42
Objective:This study constructs a strategic model for healthy city construction using Hubei Province as a case study,aiming to provide a reference for advancing healthy city initiatives.Methods:Utilizing grounded theory,we analyzed interview data from 9 cities in Hubei.Through open coding,principal axis coding,and selective coding,we identified and refined the strategic components for healthy city construction.Results:The strategies for healthy city construction in Hubei encompasses 30 initial categories,11 main categories,and 3 core categories:government initiative-led,departmental cooperation,and social co-construction and co-governance.This framework culminates in a theoretical model centered on sustainable construction,with the long-term improvement of population health as the ultimate goal.Conclusion:The strategies of government initiative-led,departmental cooperation,and social co-construction and co-governance function synergistically as guiding,implementing,and mobilizing frameworks for healthy city construction.By integrating these strategies,we can promote the sustainability of healthy cities and ultimately achieve long-term improvement of population health level.
4.Chemical constituents from the large polar fraction of the roots of Lindera reflexa and their antitumor activities
Zhi-Hao TIAN ; Xiao-Ya SUN ; Shan-Shan ZHANG ; Zhi-Ning GAO ; Yan LI ; Ruo-Xi CHEN ; Sui-Qing CHEN
Chinese Traditional Patent Medicine 2024;46(8):2617-2623
AIM To study the chemical constituents from the large polar fraction of the roots of Lindera reflexa Hemsl.and their antitumor activities.METHODS The large polar fraction from the roots of L.reflexa was isolated and purified by silica gel column,Sephadex LH-20 gel column,semi-preparative HPLC and ODS medium pressure column,then the structures of obtained compounds were identified by physicochemical properties and spectral data.The antitumor activities were determined by MTT method.RESULTS Thirteen compounds were isolated and identified as 2,6-dimethoxy-4-hydroxyphenyl-1-O-β-D-glucopyranoside(1),3-hydroxy-4,5-dimethoxyphenol-β-D-glucopyranoside(2),syringin(3),1-O-3,4-dimethoxy-5-hydroxyphenyl-(6-O-3,5-dimethoxygalloyl)-β-D-glucopyranoside(4),p-cymen-7-yl β-D-glucopyranoside(5),pisumionoside(6),staphylionoside D(7),dendranthemoside B(8),lynoiside(9),nudiposide(10),icariside B1(11),(2S)-pinocembrin-7-O-(6-O-α-L-rhamnopyranosyl-β-D-glucopyranoside)(12),(+)-N-(methoxycarbonyl)-N-norboldine(13).Compounds 3 and 13 showed obvious cytotoxicity against human lung cancer cells(A549)and human gastric cancer cells(MGC80-3).CONCLUSION Compounds 1-13 are isolated from the roots of L.reflexa for the first time.Compounds 3 and 13 have good anti-tumor activities.
5.Exploration on the cultivation of holistic thinking in endodontic practice teaching
Qi ZHANG ; Hao CHEN ; Ruoxun WANG ; Yipin QI ; Xi WEI ; Yan GAO ; Sui MAI
Chinese Journal of Medical Education Research 2022;21(12):1700-1704
Objective:To investigate the effect of holistic thinking training mode on establishing clinical holistic thinking in endodontic practice teaching for students.Methods:Holistic thinking training mode was applied among Batch 2013 (group A, n=174) and Batch 2014 (group B, n=92) students of Guanghua School of Stomatology, Sun Yat-sen University. The teaching results were evaluated by the scores before and after the training and questionnaire, and by comparing their scores with those of Batch 2012 (group C, n=88) students. SPSS 20.0 was used to conduct one-way ANOVA and t test. Results:Compared the scores of students in group A with group B, the total scores before and after the training and the scores of "case report" were not statistically different, but the scores of holistic thinking were significantly improved after the training. Compared with the scores of students in group C, the total scores after the training and the "case report" scores of group A and B were significantly higher. The results of the questionnaire showed that 87.9%(153/174) of the students thought the training mode was conducive to the establishment of holistic thinking, but 77.6%(135/174) thought further improvement was needed in terms of content and time allocation.Conclusion:Holistic thinking training mode has a positive effect on the endodontic practice teaching, and is worth promoting in other departments after further improvement.
6.High-fat diet-induced adipose tissue expansion occurs prior to insulin resistance in C57BL/6J mice
Ming-Qian HE ; Jing-Ya WANG ; Yue WANG ; Jing SUI ; Meng ZHANG ; Xi DING ; Yang ZHAO ; Zi-Yi CHEN ; Xiao-Xiao REN ; Bing-Yin SHI
Chronic Diseases and Translational Medicine 2020;06(3):198-207
Background::To date, there is only scare evidence characterizing the temporal features and progression of metabolic dysfunction in high-fat diet (HFD)-fed obese mice. Hence, its specific pathogenesis remains unclear.Methods::Sixty 6-week-old male C57BL/6J mice were randomly divided into HFD and control diet (CD) groups and sacrificed at 1, 5, 9, 13, 17, and 21 weeks, respectively. At weekly intervals, intraperitoneal glucose tolerance testing (IPGTT) and intraperitoneal insulin tolerance testing (IPITT) were performed in both groups. A detailed time course in HFD-fed mice was investigated by evaluating the initiation of glucose homeostasis impairment, dyslipidemia, systemic insulin sensitivity, monocyte chemoattractant protein-1 (MCP-1) levels, epididymal white adipose tissue (eWAT) expansion, macrophage content changes, proinflammatory (M1)/anti-inflammatory (M2) macrophage imbalance, lipid accumulation in the liver, and β-cell morphometry in the pancreas.Results::In the HFD group, progressive weight gain and impairments in glucose metabolism (elevated fasting blood glucose and area under the curve (AUC) of IPGTT) were observed from the 3rd week, and a significantly elevated AUC of IPITT was first detected after week 7 of HFD feeding. As for dyslipidemia, after 9 weeks of feeding, the low-density lipoprotein cholesterol level and total cholesterol level in HFD group were significantly higher than those in the CD group (all P < 0.05), whereas no significant differences were shown in triglyceride level. Adipocyte size increased significantly in the HFD group in the 1st week, a phenotypic switch in eWAT from anti-inflammatory (M2) to pro-inflammatory (M1) macrophages was observed in the 5th week, and the metabolic inflammation was distinct in eWAT in the 9th week. Additionally, liver steatosis was considerably obvious at the 17th week and pancreatic β-cell morphometry did not change during 21 weeks of HFD feeding. Conclusion::The eWAT expansion was detected early in HFD-induced obese mice, which occurred prior to obvious insulin resistance.
7.High-fat diet-induced adipose tissue expansion occurs prior to insulin resistance in C57BL/6J mice
Ming-Qian HE ; Jing-Ya WANG ; Yue WANG ; Jing SUI ; Meng ZHANG ; Xi DING ; Yang ZHAO ; Zi-Yi CHEN ; Xiao-Xiao REN ; Bing-Yin SHI
Chronic Diseases and Translational Medicine 2020;06(3):198-207
Background::To date, there is only scare evidence characterizing the temporal features and progression of metabolic dysfunction in high-fat diet (HFD)-fed obese mice. Hence, its specific pathogenesis remains unclear.Methods::Sixty 6-week-old male C57BL/6J mice were randomly divided into HFD and control diet (CD) groups and sacrificed at 1, 5, 9, 13, 17, and 21 weeks, respectively. At weekly intervals, intraperitoneal glucose tolerance testing (IPGTT) and intraperitoneal insulin tolerance testing (IPITT) were performed in both groups. A detailed time course in HFD-fed mice was investigated by evaluating the initiation of glucose homeostasis impairment, dyslipidemia, systemic insulin sensitivity, monocyte chemoattractant protein-1 (MCP-1) levels, epididymal white adipose tissue (eWAT) expansion, macrophage content changes, proinflammatory (M1)/anti-inflammatory (M2) macrophage imbalance, lipid accumulation in the liver, and β-cell morphometry in the pancreas.Results::In the HFD group, progressive weight gain and impairments in glucose metabolism (elevated fasting blood glucose and area under the curve (AUC) of IPGTT) were observed from the 3rd week, and a significantly elevated AUC of IPITT was first detected after week 7 of HFD feeding. As for dyslipidemia, after 9 weeks of feeding, the low-density lipoprotein cholesterol level and total cholesterol level in HFD group were significantly higher than those in the CD group (all P < 0.05), whereas no significant differences were shown in triglyceride level. Adipocyte size increased significantly in the HFD group in the 1st week, a phenotypic switch in eWAT from anti-inflammatory (M2) to pro-inflammatory (M1) macrophages was observed in the 5th week, and the metabolic inflammation was distinct in eWAT in the 9th week. Additionally, liver steatosis was considerably obvious at the 17th week and pancreatic β-cell morphometry did not change during 21 weeks of HFD feeding. Conclusion::The eWAT expansion was detected early in HFD-induced obese mice, which occurred prior to obvious insulin resistance.
8.Key technologies in digital breast tomosynthesis system:theory, design, and optimization.
Mingqiang LI ; Kun MA ; Xi TAO ; Yongbo WANG ; Ji HE ; Ziquan WEI ; Geofeng CHEN ; Sui LI ; Dong ZENG ; Zhaoying BIAN ; Guohui WU ; Shan LIAO ; Jianhua MA
Journal of Southern Medical University 2019;39(2):192-200
OBJECTIVE:
To develop a digital breast tomosynthesis (DBT) imaging system with optimizes imaging chain.
METHODS:
Based on 3D tomography and DBT imaging scanning, we analyzed the methods for projection data correction, geometric correction, projection enhancement, filter modulation, and image reconstruction, and established a hardware testing platform. In the experiment, the standard ACR phantom and high-resolution phantom were used to evaluate the system stability and noise level. The patient projection data of commercial equipment was used to test the effect of the imaging algorithm.
RESULTS:
In the high-resolution phantom study, the line pairs were clear without confusing artifacts in the images reconstructed with the geometric correction parameters. In ACR phantom study, the calcified foci, cysts, and fibrous structures were more clearly defined in the reconstructed images after filtering and modulation. The patient data study showed a high contrast between tissues, and the lesions were more clearly displayed in the reconstructed image.
CONCLUSIONS
This DBT imaging system can be used for mammary tomography with an image quality comparable to that of commercial DBT systems to facilitate imaging diagnosis of breast diseases.
Algorithms
;
Artifacts
;
Breast
;
diagnostic imaging
;
Female
;
Humans
;
Mammography
;
methods
;
Phantoms, Imaging
;
Radiographic Image Enhancement
;
methods
9.Analysis on traditional Chinese medicine prescriptions treating cancer based on traditional Chinese medicine inheritance assistance system and discovery of new prescriptions.
Ming YU ; Qi-chen CAO ; Yu-xi SU ; Xin SUI ; Hong-jun YANG ; Lu-qi HUANG ; Wen-ping WANG
China Journal of Chinese Materia Medica 2015;40(15):3110-3114
Malignant tumor is one of the main causes for death in the world at present as well as a major disease seriously harming human health and life and restricting the social and economic development. There are many kinds of reports about traditional Chinese medicine patent prescriptions, empirical prescriptions and self-made prescriptions treating cancer, and prescription rules were often analyzed based on medication frequency. Such methods were applicable for discovering dominant experience but hard to have an innovative discovery and knowledge. In this paper, based on the traditional Chinese medicine inheritance assistance system, the software integration of mutual information improvement method, complex system entropy clustering and unsupervised entropy-level clustering data mining methods was adopted to analyze the rules of traditional Chinese medicine prescriptions for cancer. Totally 114 prescriptions were selected, the frequency of herbs in prescription was determined, and 85 core combinations and 13 new prescriptions were indentified. The traditional Chinese medicine inheritance assistance system, as a valuable traditional Chinese medicine research-supporting tool, can be used to record, manage, inquire and analyze prescription data.
Drug Prescriptions
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Humans
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Medicine, Chinese Traditional
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Neoplasms
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drug therapy
10.Diagnostic value of endobronchial ultrasound guided transbronchial needle aspiration in superior vena cava syndrome.
Zu-li ZHOU ; Hui ZHAO ; Yun LI ; Xi-zhao SUI ; Zhen XIE ; Ke-zhong CHEN ; Feng YANG ; Feng-wei LI ; Jun LIU ; Hong-fang ZHENG ; Jun WANG
Chinese Medical Journal 2013;126(23):4453-4456
BACKGROUNDThe pathological diagnosis is of critical importance to the subsequent treatment for the pathients with superior vena cava syndrome (SVCS). The aim of this study is to report our experience in the diagnosis of SVCS by endobronchial ultrasound guided transbronchial needle aspiration (EBUS-TBNA).
METHODSThe data of 520 patients who underwent EBUS-TBNA from September 2009 to May 2012 at our institution were reviewed. Of these, there were 14 males and 6 females (mean age of 59.1 years) with SVCS who received EBUS-TBNA that were included in the analysis.
RESULTSThe mean short axis diameter of the paratracheal lesions was (3.32 ± 1.79) cm (range, 1.69 to 9.50 cm) and 6 cases also had subcarinal lymph node enlargement with a mean short axis diameter of (2.14 ± 0.49) cm (range, 1.73 to 3.01 cm). An average of 4.3 punctures was performed per lesion. Malignancy was confirmed in 16 cases (10 small cell carcinomas, 4 adenocarcinomas, 1 squamous cell carcinoma and 1 Hodgkin lymphoma). In two patients, pathological examination of tissue revealed no evidence of malignancy and for 13 to 24 months of follow-up. One patient from whom adequate tissue was not obtained refused further surgical biopsy since he had undergone endovascular stenting of the SVC. One patient in whom a diagnosis was not obtained by EBUS-TBNA underwent thoracoscopic biopsy and the final diagnosis was B cell non-Hodgkin's lymphoma. The diagnosis accuracy of EBUS-TBNA in SVCS was 18/20 patients.
CONCLUSIONEBUS-TBNA is a highly effective and safe procedure for the diagnosis of SVCS.
Adult ; Aged ; Biopsy, Fine-Needle ; Bronchoscopy ; Female ; Humans ; Image-Guided Biopsy ; Male ; Middle Aged ; Superior Vena Cava Syndrome ; diagnosis

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