1.Clinical value of prospective ECG-gated high-pitch CT scanning in the diagnosis of pediatric congenital heart disease
Minghua SUN ; Yukun PAN ; Ru WEN ; Jiliang ZHANG ; Ruigang XIE ; Yinghui GE
Chinese Journal of Radiological Medicine and Protection 2024;44(3):228-232
Objective:To investigate the clinical value of prospective ECG-gated high-pitch protocol scanning of third generation DSCT in the diagnosis of pediatric congenital heart disease (CHD).Methods:A total of 243 children with confirmed CHD who were expected to undergo surgical treatment were prospectively collected and randomly divided evenly into 3 groups, with first group for prospective ECG-gated high-pitch scanning in third generation DSCT (Flash 3rd), second group for prospective ECG-gated high-pitch scanning in second generation DSCT (Flash 2nd) and third group for prospective sequential scanning in third generation DSCT (Sequence 3rd). The SD value and SNR of aortic root and pulmonary artery of each child were recorded. The 5-point system is adopted with subjective scoring. Based on the result of operation, the diagnosis accuracy in 3 groups was analyzed. Results:The E values in Flash 3rd, Flash 2nd and Sequence 3rd group were 0.24 (0.19, 0.27), 0.11 (0.10, 0.14) and 0.44 (0.39, 0.48) mSv ( H=207.04, P<0.05), respectively. Subjective scores of group Flash 3rd and Sequence 3rd were significantly higher than that of group Flash 2nd [4 (4, 4) vs. 4(3, 4) vs. 3(3, 3), H=124.05, P<0.05] and no difference between these two groups. SD value of aortic root and pulmonary artery of group Flash 3rd and Sequence 3rd were significantly lower than that of group Flash 2nd( H= -40.27-33.38, P<0.05). SNR of aortic root and pulmonary artery of group Flash 3rd was significantly higher than that of group Flash 2nd and Sequence 3rd ( H=-0.90-51.42, P<0.05). Diagnosis accuracy of intracardiac malformation for group Flash 2nd was significantly lower than that of Flash 3rd and Sequence 3rd (77.7%, 90.9%, 88.9%, K=9.36, P<0.05), and there was no significant difference between the latter two groups. There was no difference in diagnosis accuracy of extracardiac malformation among 3 groups (88.6%, 94.8%, 92.2%, K=3.11, P=0.21). Conclusions:The prospective ECG-gated high-pitch scanning in third generation DSCT can take into account radiation dose and image quality, which has important clinical value in the diagnosis of CHD.
2.Research progress on genotype and phenotype of primary hyperoxaluria type 3
Zhenqiang ZHAO ; Yucheng GE ; Yukun LIU ; Wenying WANG
International Journal of Surgery 2024;51(2):133-137
Primary hyperoxaluria type 3 (PH3) is a rare monogenic nephrolithiasis caused by HOGA1 gene mutations. With the advancement of technology of genetic testing, the mutation site of PH3 patients can be clearly located, and the characteristics of genotype, phenotype, genotype-phenotype correlations are also gradually recognized. With the development of gene therapy, novel gene editing techniques and RNA interference treatments offer hope for the future of PH3 treatment. In this paper, the characteristics of genotype and phenotype, genotype-phenotype correlations of PH3 will be summarized and its future treatment will be prospected.
3.Association of CTLA-4 gene polymorphisms with the genetic susceptibility and prognosis of patients with Bladder urothelial carcinoma
Junpeng LI ; Lin ZHANG ; Haifeng XIE ; Yukun GE ; Lei WANG
Chinese Journal of Medical Genetics 2024;41(8):988-993
Objective:To assess the association of cytotoxic T lymphocyte-associated antigen-4 ( CTLA-4) gene polymorphisms with the prognosis of patients with Bladder urothelial carcinoma (BUC). Methods:From February 2019 to October 2020, 256 BUS patients treated at the Xinxiang Central Hospital were selected as the study group, whilst 250 healthy individuals were selected as the control group. Genotypes of rs5742909 (-318C/T), rs231775 (+ 49A/G) and rs4553808 (-1661A/G) were determined by PCR-restriction fragment length polymorphism assay. The frequencies of genotypes and alleles of the CTLA-4 gene were compared between the two groups. All patients had undergone surgical treatment and were followed up for 3 years and divided into good prognosis group ( n=166) and poor prognosis group ( n=86) based on the status of disease. The distribution of alleles and genotypes were compared, and Kaplan-Meier analysis was used to assess the association of genetic polymorphisms with the prognosis. Results:No significant difference was found in the gender, age, BMI, smoking history and alcohol use between the two groups ( P>0.05). The frequencies of GG genotype and G allele for the rs231775 (+ 49A/G) and rs4553808 (-1661A/G) loci were significantly higher in the study group compared with the control group ( P<0.05), whilst no statistical difference was found in the genotypic and allelic frequency for the rs5742909 locus between the two groups ( P>0.05). Among the 252 subjects who had completed follow-up, 86 had poor prognosis and 166 had good prognosis. The frequencies of GG genotype and G allele at the rs231775 (+ 49A/G) and rs4553808 (-1661A/G) loci were significantly lower in the good prognosis group compared with the poor prognosis group ( P<0.05). Kaplan-Meier survival curve analysis showed that the survival time of patients with GG genotype for the rs231775 (+ 49A/G) and rs4553808 (-1661A/G) loci was significantly shorter than patients with AA or AG genotypes (Log Rank 2 = 13.654, 9.974, P<0.001). Conclusion:The polymorphisms of the rs231775 and rs4553808 loci of the CTLA-4 gene are associated with genetic susceptibility and poor prognosis for BUC, and a higher GG genotypic frequency may increase the risk for infection and poor prognosis of the patients.
4.The assessment of coronary CT angiography in the diagnosis of vulnerable plaques
Xiaoxue ZHANG ; Yukun PAN ; Ruigang XIE ; Yinghui GE
Chinese Journal of Radiology 2024;58(8):822-828
Objective:To explore the value of coronary CT angiography (CCTA) in the diagnosis of vulnerable plaques using intravascular ultrasound (IVUS) as the gold standard.Methods:A retrospective analysis was conducted on the clinical and imaging data of coronary artery disease patients who underwent both IVUS and CCTA examinations at Fuwai Central China Cardiovascular Hospital from December 2017 to March 2022. Based on the IVUS results, the coronary plaques were divided into vulnerable and non-vulnerable plaque groups. Finally, 43 patients with a total of 88 coronary artery plaques were included, of which 26 were vulnerable plaques. Plaque analysis were performed on the CCTA images, including qualitative parameters such as low-density plaques (LAP), "napkin-ring" sign (NRS), spotty calcification (SC) and positive remodeling (PR), and the quantitative parameters such as minimum lumen area (MLA), total plaque volume (TPV), lesion length, volume and proportion of calcified plaque and fibrous plaque. The differences of CCTA parameters between the two groups were compared using t-test, chi-square test, and rank sum test. The association between CCTA parameters and the risk of vulnerable plaque was evaluated by logistic regression. Different CCTA parameters were used to establish qualitative, quantitative, and hybrid models, and the diagnostic efficacy of different models for vulnerable plaque was evaluated using the receiver operating characteristic (ROC) curve. Results:There were significant differences in NRS ( χ2=14.22, P<0.001), MLA ( Z=3.25, P=0.001), lesion length ( Z=-3.28, P=0.001), TPV ( Z=-2.04, P=0.041), calcified plaque volume ( Z=-2.52, P=0.012) and fibrous plaque volume ( Z=-2.10, P=0.035) between vulnerable and non-vulnerable plaque groups. The logistic regression analysis showed that NRS ( OR=9.66, 95% CI 2.36-39.54), MLA ( OR=0.76, 95% CI 0.59-0.99) and lesion length ( OR=1.03, 95% CI 1.00-1.07) were independent risk factors for vulnerable plaques. The diagnostic efficacy of the hybrid model based on CCTA parameters was superior to the qualitative model [hybrid model: area under the ROC curve (AUC)=0.82, 95% CI 0.72-0.89; qualitative model: AUC=0.68, 95% CI 0.57-0.78; Z=2.57, P=0.010]. Conclusions:CCTA parameters NRS, MLA, and lesion length are independent risk factors for coronary vulnerable plaques. The diagnostic efficacy of the hybrid model based on CCTA parameters is superior to the qualitative model for vulnerable plaques.
5.IgG4-related disease presenting as a ureteral tumor: a case report
Longzhi HE ; Yucheng GE ; Zhenqiang ZHAO ; Yukun LIU ; Siyu QI ; Chen NING ; Wenying WANG
Chinese Journal of Urology 2024;45(5):395-396
IgG4-related disease (IgG4-RD) involving the ureter manifested as a ureteral tumor is rare. This paper reports a case of a female patient who was found with a mass at the left ureteropelvic junction for one week during physical examination. Urinary ultrasound and MRI showed a 3 cm mass at the left ureteropelvic junction with hydronephrosis, and the serum level of IgG4 was elevated. B-ultrasonic guided biopsy of the mass was performed. Histopathological findings showed lymphoplasmic infiltration and the ratio of IgG4/IgG positive cells>0.5. We finally diagnosed IgG4-RD and started using glucocorticoid for her treatment. One month later, CT-scan revealed that the tumor became smaller and the serum IgG4 decreased to the normal range.
6.Ectopic prostate in the pelvis: a case report
Longzhi HE ; Yucheng GE ; Zhenqiang ZHAO ; Yukun LIU ; Siyu QI ; Chen NING ; Wenying WANG
Chinese Journal of Urology 2024;45(8):631-632
Ectopic prostate is rare.This paper reports a case of a male patient who was found a mass in the pelvis for 20 days during physical examination.Urinary ultrasound, CT scan and MRI showed a pelvic mass that was about 4 cm×5 cm in size.Serum total prostate specific antigen (tPSA) was 6.09 ng/ml, and free PSA (fPSA) was 1.97 ng/ml. B-ultrasonic guided biopsy of the prostate and the mass was performed. Pathological findings suggest benign prostatic hyperplasia, weakly positive P504S and positive 34βE12. Pelvic mass is the prostate tissue with negative P504S and positive 34βE12. Finally, the ectopic prostate was diagnosed. Although it is rare, ectopic prostate should also be considered as a differential diagnosis of the pelvic tumor.
7.Ultrasonography Combined with Antibody Status for Predicting ATA Recurrence Risk Stratification of Papillary Thyroid Carcinoma in the Context of Hashimoto's Background
Naiqiao GE ; Yuexiang WANG ; Yu LAN ; Bo JIANG ; Molin LI ; Guanghui XING ; Yukun LUO
Chinese Journal of Medical Imaging 2024;32(9):891-896
Purpose To predict the 2015 American thyroid association(ATA)recurrence risk stratification based on ultrasonographic features and Hashimoto's thyroiditis(HT)-specific antibody status of papillary thyroid carcinoma(PTC)in the context of HT.Materials and Methods A retrospective analysis was conducted on the ultrasonographic and clinical data of 479 patients with coexisting PTC and HT,who underwent their first thyroid surgery at the First Medical Center of Chinese PLA General Hospital from January 2017 to December 2019.All patients were divided in chronological order into a training group(n=327)and a validation group(n=152).Multivariate Logistic regression analysis was utilized to identify independent factors associated with high recurrence risk stratification according to the ATA guidelines.Predictive models were constructed and screened,and the efficacy of these models was evaluated using the area under the curve,calibration curves and Brier scores.Results Multivariate Logistic regression analysis identified the following as independent predictive factors for high recurrence risk stratification:multifocal malignancy of nodules(OR=3.812,95%CI 1.275-11.397,P=0.017),nodule contact with the capsule(OR=8.012,95%CI 1.647-38.972,P=0.010),microcalcifications(OR=4.220,95%CI 1.302-13.678,P=0.016),an aspect ratio>1(OR=4.017,95%CI 1.286-12.548,P=0.017),abundant nodule vascularity(OR=6.120,95%CI 2.225-16.832,P<0.001),maximum nodule diameter ≥1 cm(OR=4.784,95%CI 1.360-16.833,P=0.015),a glandular echo characteristic of typical HT(OR=0.114,95%CI 0.039-0.330,P<0.001),and anti-thyroid peroxidase antibody monopositivity(OR=0.088,95%CI 0.006-1.299,P=0.077).The predictive model demonstrated strong performance,as evidenced by the area under the curve of 0.942(95%CI 0.911-0.972)in the training set and 0.933(95%CI 0.878-0.990)in the validation set.Both groups exhibited well-fitting calibration curves.The Brier scores were 0.054 and 0.058 for the training and validation sets,respectively,indicating excellent predictive efficacy of the model.Conclusion The preoperative prediction model,based on ultrasonographic features combined with antibody status,demonstrates good efficacy in assessing ATA recurrence risk stratification for coexisting PTC and HT patients,which can assist clinicians in formulating treatment plans.
8.Advances in the gene therapy of primary hyperoxaluria
Yukun LIU ; Ruichao ZHAN ; Yucheng GE ; Wenying WANG
Chinese Journal of Urology 2023;44(3):237-240
Primary hyperoxaluria (PH) is a rare autosomal recessive hereditary disease, characterized by calcium oxalate kidney stone and nephrocalcinosis caused by defects in enzymes of liver glyoxylate metabolism. Up to now, treatment options for PH are limited. Although medication treatment and liver transplantation can slow down the progression and mitigate the symptoms, the evidence for them turned out to be weak. In recent years, breakthroughs in biotechnology provide novel promising directions for drug development. Small interfering RNA drugs, such as lumasiran and nedosiran, selectively reduce hepatic expression of glycolate oxidase and lactate dehydrogenase respectively, reducing hepatic oxalate production and urinary oxalate levels in PH patients. Gene-editing, such as CRISPR/Cas9, will be a potential treatment method of PH. This review encompasses recent developments in the gene therapy of PH.
9.Genome-wide identification of the banana GLR gene family and its expression analysis in response to low temperature and abscisic acid/methyl jasmonate.
Binbin LUO ; Hui ZHANG ; Dan LI ; Qiuzhen WU ; Wanjun GE ; Tianyuan ZHU ; Yukun CHEN ; Yuji HUANG ; Yuling LIN ; Zhongxiong LAI
Chinese Journal of Biotechnology 2023;39(7):2874-2896
Glutamate receptor-like (GLR) is an important class of Ca2+ channel proteins, playing important roles in plant growth and development as well as in response to biotic and abiotic stresses. In this paper, we performed genome-wide identification of banana GLR gene family based on banana genomic data. Moreover, we analyzed the basic physicochemical properties, gene structure, conserved motifs, promoter cis-acting elements, evolutionary relationships, and used real-time fluorescence quantitative polymerase chain reaction (RT-qPCR) to verify the expression patterns of some GLR family members under low temperature of 4 ℃ and different hormone treatments. The results showed that there were 19 MaGLR family members in Musa acuminata, 16 MbGLR family members in Musa balbisiana and 14 MiGLR family members in Musa itinerans. Most of the members were stable proteins and had signal peptides, all of them had 3-6 transmembrane structures. Prediction of subcellular localization indicated that all of them were localized on the plasma membrane and irregularly distributed on the chromosome. Phylogenetic analysis revealed that banana GLRs could be divided into 3 subclades. The results of promoter cis-acting elements and transcription factor binding site prediction showed that there were multiple hormone- and stress-related response elements and 18 TFBS in banana GLR. RT-qPCR analysis showed that MaGLR1.1 and MaGLR3.5 responded positively to low temperature stress and were significantly expressed in abscisic acid/methyl jasmonate treatments. In conclusion, the results of this study suggest that GLR, a highly conserved family of ion channels, may play an important role in the growth and development process and stress resistance of banana.
Musa/metabolism*
;
Phylogeny
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Abscisic Acid/metabolism*
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Temperature
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Stress, Physiological/genetics*
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Hormones/metabolism*
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Gene Expression Regulation, Plant
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Plant Proteins/metabolism*
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Gene Expression Profiling
10.Renal abscess induced by fish bone ingestion: a case report
Yucheng GE ; Zhenqiang ZHAO ; Ruichao ZHAN ; Yukun LIU ; Chenglin ZHAO ; Tingting ZHANG ; Ye TIAN ; Wenying WANG
Chinese Journal of Urology 2023;44(9):704-705
Renal abscess caused by fish bone ingestion is extremely rare and has not been reported in the literature. A male patient presented with a 1-week history of flank pain and a 2-day history of fever. Urinary ultrasound and CT scan showed an irregular hypodense lesion in the left kidney and blurred thickening of the descending colon wall. Three-dimensional CT reconstruction images revealed a needle-like foreign body, which perforated from the descending colonic lumen to the left kidney. The patient had accidentally eaten fish bone one week prior. On the basis of clinical data, the diagnosis of renal abscess caused by foreign body was suspected. Accordingly, laparotomy was performed, the abscess was drained, and the colon was repaired. The foreign body was confirmed to be fish bone. The postoperative condition of the patient was uneventful, and the patient remained well in the 3 months' follow-up without any further complaints.

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