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.Diagnostic value and influencing factors of endoscopic ultrasonography for rectal neuroendocrine neoplasms
Xiaotong WANG ; Xiaowei WANG ; Wenjun ZHAO ; Zeyuan DIAO ; Wen SONG ; Yao LIU ; Zhenzhen SUI ; Ya LIU ; Hua LIU
Chinese Journal of Digestive Endoscopy 2025;42(6):474-479
Objective:To investigate the diagnostic value and influencing factors of endoscopic ultrasonography (EUS) for detecting rectal neuroendocrine neoplasms (R-NENs).Methods:A retrospective case-control study was performed on data of patients with suspected R-NENs by white light endoscopy who underwent endoscopic diagnosis and treatment or surgical operation and obtained pathological diagnosis at the Affiliated Hospital of Qingdao University from March 2016 to June 2023. Clinical data, EUS characteristics and pathological results were statistically analyzed, and the diagnostic accuracy of EUS for R-NENs were obtained by comparing the EUS results with the pathological results. Influencing factors affecting accuracy were analyzed by using the binary logistic regression model.Results:A total of 317 patients were included. The sensitivity, the specificity, the positive predictive value and the negative predictive value of EUS in diagnosing R-NENs were 98.03% (249/254), 34.92% (22/63), 85.86% (249/290) and 81.48% (22/27) respectively. The accuracy was 85.49% (271/317) and the Jorden index was 0.33. Tumor size ≤5 mm ( P=0.002, OR=2.892, 95% CI: 1.464-5.713), absence of surface vascular dilation ( P=0.019, OR=2.613, 95% CI: 1.170-5.837), normal tumor coloration ( P=0.001, OR=3.460, 95% CI: 1.645-7.279) and erythematous surface appearance ( P=0.048, OR=7.242, 95% CI: 1.015-51.680) were independent risk factors affecting the accuracy of R-NENs diagnosis by EUS. Depth assessment accuracy of EUS was 76.77% (195/254), with echo heterogeneity ( P<0.001, OR=4.008, 95% CI: 1.980-8.113) and surface depression ( P=0.035, OR=2.664, 95% CI: 1.073-6.615) emerging as significant factors affecting invasion depth evaluation. Conclusion:EUS demonstrates substantial clinical utility for R-NENs assessment, with diagnostic performance being significantly associated with tumor morphology and sonographic features. Macroscopic characteristics including tumor size, vascular patterns, and chromatic features influence diagnostic accuracy, while echo-textural heterogeneity and surface depression affect invasion depth precision. These findings underscore the clinical relevance of comprehensive EUS evaluation in R-NENs management.
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.Diagnostic value and influencing factors of endoscopic ultrasonography for rectal neuroendocrine neoplasms
Xiaotong WANG ; Xiaowei WANG ; Wenjun ZHAO ; Zeyuan DIAO ; Wen SONG ; Yao LIU ; Zhenzhen SUI ; Ya LIU ; Hua LIU
Chinese Journal of Digestive Endoscopy 2025;42(6):474-479
Objective:To investigate the diagnostic value and influencing factors of endoscopic ultrasonography (EUS) for detecting rectal neuroendocrine neoplasms (R-NENs).Methods:A retrospective case-control study was performed on data of patients with suspected R-NENs by white light endoscopy who underwent endoscopic diagnosis and treatment or surgical operation and obtained pathological diagnosis at the Affiliated Hospital of Qingdao University from March 2016 to June 2023. Clinical data, EUS characteristics and pathological results were statistically analyzed, and the diagnostic accuracy of EUS for R-NENs were obtained by comparing the EUS results with the pathological results. Influencing factors affecting accuracy were analyzed by using the binary logistic regression model.Results:A total of 317 patients were included. The sensitivity, the specificity, the positive predictive value and the negative predictive value of EUS in diagnosing R-NENs were 98.03% (249/254), 34.92% (22/63), 85.86% (249/290) and 81.48% (22/27) respectively. The accuracy was 85.49% (271/317) and the Jorden index was 0.33. Tumor size ≤5 mm ( P=0.002, OR=2.892, 95% CI: 1.464-5.713), absence of surface vascular dilation ( P=0.019, OR=2.613, 95% CI: 1.170-5.837), normal tumor coloration ( P=0.001, OR=3.460, 95% CI: 1.645-7.279) and erythematous surface appearance ( P=0.048, OR=7.242, 95% CI: 1.015-51.680) were independent risk factors affecting the accuracy of R-NENs diagnosis by EUS. Depth assessment accuracy of EUS was 76.77% (195/254), with echo heterogeneity ( P<0.001, OR=4.008, 95% CI: 1.980-8.113) and surface depression ( P=0.035, OR=2.664, 95% CI: 1.073-6.615) emerging as significant factors affecting invasion depth evaluation. Conclusion:EUS demonstrates substantial clinical utility for R-NENs assessment, with diagnostic performance being significantly associated with tumor morphology and sonographic features. Macroscopic characteristics including tumor size, vascular patterns, and chromatic features influence diagnostic accuracy, while echo-textural heterogeneity and surface depression affect invasion depth precision. These findings underscore the clinical relevance of comprehensive EUS evaluation in R-NENs management.
5.Establishment and verification of auditory brainstem implant vocoder model
Qinjie ZHANG ; Sui HUANG ; Haoyue TAN ; Xiang ZHOU ; Junyi WANG ; Yuzi LIU ; Wen WEN ; Jia GUO ; Hao WU ; Huan JIA
Journal of Shanghai Jiaotong University(Medical Science) 2024;44(10):1279-1286
Objective·To develope an auditory brainstem implant(ABI)vocoder based on cochlear implant(CI)vocoder characteristics and ABI electrode array topology,and to verify its reliability.Methods·An"n-of-m"coding strategy CI/ABI vocoder was constructed based on MATLAB.Within each frame,only the envelopes of the n channels with the highest energy were selected.The interaction coefficient(IC)(range:1?3),channel numbers(range:5?22),and electrode array topology(CI/ABI)were adjustable parameters,allowing for the synthesis of simulated speech.Psychoacoustic evaluation was employed,recruiting normal hearing subjects to perform closed-set simulated phoneme perception.The phoneme recognition accuracy(20 vowel questions/condition,11 consonant questions/condition)was compared with the corresponding conditions of CI and ABI from reference literature to determine the IC value of the vocoder and verify its reliability.Results·The vocoder successfully synthesized all test stimuli.In the closed-set CI-simulated speech recognition,the simulated vowel and consonant recognition accuracy for IC2 and IC3 conditions showed no significant difference compared to the accuracy reported in the CI reference literature(P>0.05).The difference in vowel and consonant accuracy between IC2 and the literature was smaller than that between IC3 and the literature(vowel|d|=1.6%vs.20%,consonant|d|=8.4%vs.9.9%),thus determining the optimal interaction coefficient of this model as 2.Subsequently,when modifying the electrode array topology to ABI,it was found that the simulated phoneme recognition accuracy for a 16-channel ABI was significantly lower than that for the 16-channel CI group,consistent with the reported literature.The simulated vowel and consonant accuracy within the 5?8 channel range for ABI showed no significant difference(P>0.05),also aligning with the trend reported in the literature.Conclusion·A CI/ABI vocoder based on"n-of-m"coding strategy is established and the optimal IC is determined.The established ABI encoder has been evaluated for high reliability through psychoacoustic experiments.It provides suitable technical means for validating ABI-specific coding strategies.
6.Analyzing the Mechanism of Houttuyniae Herba-Leonuri Herba in Treating Systemic Lupus Erythematosus Based on Network Pharmacology and Molecular Docking Technology
Cheng-Zhi SHI ; Kai-Jie WANG ; Yi-Jiao YAN ; Wen-Hui DENG ; Bao-Yuan LU ; Shuang XIE ; Dao-Shun SUI
Journal of Guangzhou University of Traditional Chinese Medicine 2024;41(12):3293-3300
Objective To analyze the active components and mechanism of action of Houttuyniae Herba-Leonuri Herba in treating systemic lupus erythematosus(SLE).Methods The main chemical components of Houttuyniae Herba-Leonuri Herba and their targets through Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform(TCMSP)were obtained,and the active components of the Chinese medicine according to ADME were screened;the potential therapeutic targets of SLE through Genecards database were obtained.The protein-protein interactions(PPI)network was constructed by using the STRING 12.0 database,and the potential protein functional modules in the network was mined.The molecular docking technique was used to further validate the action mechanism of components and targets which played a therapeutic role.Results A total of 198 Houttuyniae Herba-Leonuri Herba-SLE intersection targets were obtained.Core active ingredients such as isothermalone,iso-preleoheterin,kaempferol,and quercetin and core targets such as IL6,AKT1,SRC,STAT3 and EGFR were screened out.A total of 1 001 entries were screened by Gene Ontology(GO)functional enrichment analysis,which were mainly related to the reaction of proteins and their kinases,and inflammation,etc..A total of 166 pathways were enriched in Kyoto Encyclopedia of Genes and Genomes(KEGG),including cancer pathway,PI3K-Akt signaling pathway,neuroactive ligand-receptor pathway,and so on.Molecular docking results showed that the core active components of Houttuyniae Herba-Leonuri Herba had great binding activities with their core targets,which preliminarily verified the above network pharmacology results.Conclusion Houttuyniae Herba-Leonuri Herba may exerts a therapeutic effect on SLE through core ingredients such as isothermalone acting on core targets such as IL6,AKT1,SRC,STAT3 and EGFR,and regulating cancer pathway,PI3K-Akt signaling pathway and neuroactive ligand-receptor interaction.
7.Efficacy and safety of autologous hematopoietic stem cell transplantation pretreated with Melphalan hydrochloride for injection in the treatment of 125 cases of multiple myeloma.
Wen Yang HUANG ; Wei LIU ; Hui Min LIU ; Yan XU ; Qi WANG ; Chen Xing DU ; Wen Jie XIONG ; Wei Wei SUI ; Fei TIAN ; Jing WANG ; Shu Hua YI ; Gang AN ; Lu Gui QIU ; De Hui ZOU
Chinese Journal of Hematology 2023;44(2):148-150
8.Value of glycosylated hemoglobin A1c and apolipoprotein A-1 ratio on predicting outcome of patients with acute coronary syndrome.
Yi Jia WANG ; Hong Na MU ; Rui Yue YANG ; Wen Duo ZHANG ; Xin Yue WANG ; Si Ming WANG ; Fu Sui JI ; Jun DONG ; Xue YU
Chinese Journal of Cardiology 2023;51(1):38-44
Objective: To investigate the predictive value of glycosylated hemoglobin A1c/apolipoprotein A-1 (HbA1c/ApoA-1) ratio for major adverse cardiovascular events (MACEs) in patients with acute coronary syndrome (ACS). Methods: The present study is a retrospective cohort study. ACS patients who were hospitalized and underwent coronary angiography at Beijing Hospital from March 2017 to March 2019 were enrolled. Baseline information such as sex, age, previous history, Gensini score, HbA1c and ApoA-1 were analyzed. Patients were divided into two groups according to presence or absence of MACEs and the difference on HbA1c/ApoA-1 ratio was compared between the two groups. According to the tertiles of HbA1c/ApoA-1 levels, patients were divided into high (5.87-16.12), medium (4.50-5.83) and low (2.11-4.48) HbA1c/ApoA-1 groups. Cox proportional risk model was used to evaluate the differences in MACEs and all-cause mortality among the three groups. Kaplan-Meier survival analysis was used to compare the differences of MACEs between the various HbA1c/ApoA-1 groups. Results: A total of 366 ACS patients were included in this study. The mean age of the patients was (65.9±10.3) years. There were 59 MACEs and 10 all-cause deaths during the mean of (22.3±4.4) months follow-up. After adjusting for age, systolic blood pressure, history of diabetes and Gensini score, the incidence of MACEs was 2.45 times higher in the high HbA1c/ApoA-1 group than in the low HbA1c/ApoA-1 group (95%CI 1.16-5.18, P=0.019). There was no significant difference in all-cause mortality between the high and low HbA1c/ApoA-1 groups (P=1.000). Kaplan-Meier survival analysis showed that patients in the high HbA1c/ApoA-1 group had the highest risk of MACEs, while patients in the low HbA1c/ApoA-1 group had the lowest risk of MACEs (P<0.01). Spearman rank correlation analysis showed that HbA1/ApoA-1 ratio was positively correlated with Gensini score in ACS patients (r=0.274, P<0.01). Conclusion: High HbA1c/ApoA-1 ratio was an independent risk factor for MACEs in ACS patients. Patients with high HbA1c/ApoA-1 ratio had more severe coronary artery disease lesions. HbA1c/ApoA-1 ratio may be used as a potential risk stratification biomarker for ACS patients, it might be useful for the early identification of high-risk population and for predicting the incidence of MACEs among ACS patients.
Aged
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Humans
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Middle Aged
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Acute Coronary Syndrome/diagnosis*
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Apolipoprotein A-I/analysis*
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Biomarkers/analysis*
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Glycated Hemoglobin/analysis*
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Percutaneous Coronary Intervention
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Retrospective Studies
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Risk Factors
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Predictive Value of Tests
9.Research progress in human rabies vaccine applications
Hai-Tian SUI ; Xing GUO ; Qian ZHANG ; Zhong-Nan YANG ; Jin-Feng SU ; Yang ZHANG ; Wen-Wu YIN ; Xiang SHU
Chinese Journal of Zoonoses 2023;39(12):1158-1164
Rabies is a zoonosis caused by rabies virus for which no effective treatment is available.The main preventive measure is vaccination with human rabies vaccine before or after rabies exposure.With progress in science and technology,the production process of human rabies vaccine has continually advanced,thereby increasing vaccine quality,and providing a safer,more effective means of rabies prevention and control through increasing human resistance to rabies.New human rabies vac-cines have made breakthroughs in basic research and clinical research.However,the problems of poor vaccine compliance and low vaccination rates must urgently be addressed.China must actively explore effective coping strategies,accelerate the upda-ting of existing immunization procedures,effectively increase the rabies vaccination rate,and achieve the goal of eliminating ra-bies by 2030 as soon as possible.
10.Finite element analysis of stress distribution of proximal femoral growth plate in adolescents
Yifan JIANG ; Jingjie HUANG ; Yang PENG ; Xiaoyuan GONG ; Ying ZHANG ; Lingchuan GU ; Jiangming LUO ; Junjun YANG ; Wen SUI ; Zhexiong TANG ; Jiamu LIU ; Guangxing CHEN
Chinese Journal of Orthopaedics 2023;43(23):1601-1609
Objective:To explore the effects of mechanical factors on the morphology of the growth plate and proximal femur development, in order to provide a mechanical basis for the mechanism of Cam lesions in femoral acetabular impingement (FAI).Methods:Using CT scan data of hip joint from adolescents, we constructed three-dimensional finite element models of normal and extended proximal femoral epiphyseal growth plates. Dynamic mechanics and position data from daily activities (walk, stand on one and two feet, go upstairs and downstairs, sit and stand up, squat and stand up) and basketball layup drills were collected from five healthy volunteers using the Vicon system. The mean values of femoral head mechanical loads and positions at peak values, movement onset, and termination were selected for finite element analysis to observe the distribution of equivalent stress, normal stress, and shear stress on the two growth plate models under different activity modes.Results:Successful construction of three-dimensional finite element models for normal and extended proximal femoral epiphyseal growth plates was achieved. Mechanical load values and spatial positions of the femoral head during daily activities and layup movements were obtained. In daily activities, peak equivalent stress values for normal and extended growth plates ranged from 1.6 to 11.0 MPa; compressive stress ranged from 1.7 to 12.0 MPa; tensile stress ranged from 0.5 to 10.0 MPa; and shear force ranged from 0.4 to 7.1 MPa. The compressive stress during walking, standing on one or both feet, going up and down stairs, sitting and standing, and squatting was concentrated in the central and lateral areas; tensile stress was concentrated in the central and medial areas; shear force was concentrated in the medial area and the anterior and posterior edges of the growth plate. During a layup, the compressive stress in the center, outer upper side, and medial edge of the growth plate of the normal model was notably concentrated, with peaks fluctuating between 5.5-19.0 MPa, 5.7-11.0 MPa, and 5.4-7.3 MPa respectively; tensile stress and shear force were concentrated at the inner and outer edges as well as in the central area, with peaks fluctuating between 3.0-24.0 MPa and 3.0-26.0 MPa respectively, these values were significantly different from those observed during daily activities. For the elongated growth plate, compressive stress was concentrated at the central and lateral edges with peaks fluctuating between 17.0-41.0 MPa and 17.0-38.0 MPa respectively; simulated shear stress and tensile stress showed significant concentration at peaks fluctuating between 4.9-34.0 MPa, also significantly different from those observed during daily activities.Conclusion:The difference in mechanical distribution between daily activities, basketball layup training, as well as between normal and extended growth plates may be the mechanical initiating factor in the development of extended growth plates and the formation of Cam lesions, it may be the mechanical initiating factor for the development of extended growth plates and the collision of Cam lesions in FAI.

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