1.Preoperative prediction of factors associated with impacted ureteral stones and construction of a nomogram model
Xinyu SHI ; Haiyang WEI ; Changbao XU ; Wuxue LI ; Xiaofu WANG ; Tianhe ZHANG ; Zhiheng HUANG ; Xinghua ZHAO
Chinese Journal of Urology 2025;46(9):669-675
Objective:To explore the predictive factors for ureteral stone impaction preoperatively and to construct a nomogram prediction model for impacted ureteral stones.Methods:A retrospective analysis was conducted on the clinical data of 209 patients with ureteral stones treated at The Second Affiliated Hospital of Zhengzhou University from July 2023 to June 2024. There were 164 males(78.5%)and 45 females(21.5%). The age was 49(47,57)years,and the body mass index(BMI)was 25.10(23.55,27.24)kg/m2. Of the patients,85(40.7%)had comorbid hypertension and 85(40.7%)had comorbid diabetes. Stones were located on the left side in 124 patients(59.3%)and on the right side in 85 patients(40.7%). Hydronephrosis was present in 169 patients(80.9%),and urine culture was positive in 29 patients(13.9%). Patients were divided into impacted and non-impacted groups based on the presence or absence of ureteral stone impaction. Univariate and multivariate logistic regression analyses were performed to determine independent predictive factors for impacted ureteral stones. A nomogram model was constructed based on these results. The performance of the predictive model was evaluated using receiver operating characteristic(ROC)curves,calibration plots,and decision curve analysis(DCA).Results:Among the 209 patients in this study,85(40.7%)experienced ureteral stone impaction. The impacted group had a significantly higher neutrophil-to-lymphocyte ratio(NLR)than the non-impacted group(3.91 ± 2.05 vs. 3.25 ± 2.10, P = 0.024),a higher rate of hydronephrosis[81.2%(69/85)vs. 80.6%(100/124), P = 0.002],larger stone surface area[(64.96 ± 39.96)mm2 vs.(51.86 ± 39.80)mm2, P = 0.021],greater ureteral wall thickness(UWT)[(3.96 ± 1.37)mm vs.(3.06 ± 1.33)mm, P < 0.001],and a higher ratio of the upper ureter diameter(D1)to the lower ureter diameter(D2)(DDR)(2.87 ± 1.58 vs. 2.00 ± 0.99, P < 0.001). Univariate analysis showed that NLR,hydronephrosis,stone length,stone surface area,UWT,D1,D2,and DDR were statistically significant( P < 0.05). After multivariate logistic regression analysis,the following items were identified as independent predictors of impacted ureteral stones:NLR( OR = 1.205,95% CI 1.026 - 1.415, P = 0.023),hydronephrosis( OR = 1.840,95% CI 1.236 - 2.740, P = 0.003),stone length( OR = 1.587,95% CI 1.142 - 2.206, P = 0.006),ureteral wall thickness(UWT)( OR = 1.643,95% CI 1.263 - 2.136, P < 0.001),and DDR( OR = 2.907,95% CI 1.040 - 8.130, P = 0.042).Based on these independent predictive factors,a nomogram prediction model for impacted ureteral stones was constructed. The area under the ROC curve was 0.797(95% CI 0.737 - 0.858),and the calibration curve showed good consistency. The decision curve suggested that the model had good clinical net benefit. Conclusions:NLR,hydronephrosis,stone length,UWT,and DDR are all independent predictors for impacted ureteral stones. The nomogram model constructed based on these factors has good predictive performance.
2.The value of whole exome sequencing in the etiological diagnosis and treatment of urolithiasis
Yongli ZHAO ; Changbao XU ; Xiaofu WANG ; Xinyu SHI ; Changwei LIU ; Wuxue LI ; Danhua LIU ; Hongen XU
Chinese Journal of Urology 2025;46(10):739-744
Objective:To evaluate the role of whole exome sequencing(WES)in the etiological diagnosis and precision medicine management of patients with urolithiasis.Methods:We conducted a retrospective review of 21 patients with urolithiasis and pathogenic gene mutations identified by WES at The Second Affiliated Hospital of Zhengzhou University between April 2019 and March 2025. The cohort included 13 males and 8 females,with a mean age of(18.9 ± 11.1)years;18 patients were under 25 years old. Clinical presentations included nephrocalcinosis(8 patients)and urinary tract calculi(13 patients),with five patients exhibiting extra-renal manifestations such as renal tubular acidosis and hyperaldosteronism. Stone composition analysis identified calcium oxalate(16 patients),cystine(4 patients),and carbonate apatite(1 patient). Metabolic abnormalities were prevalent,including hypocitraturia(11 patients),hyperoxaluria(8 patients),and hypercalciuria(7 patients),with eight patients presenting two or more concurrent disorders. All patients underwent WES and comprehensive metabolic evaluation. Sequencing was performed on an Illumina Hiseq4000 platform,achieving a mean depth of > 100× and coverage of > 98% in target regions. Variants were classified according to the American College of Medical Genetics and Genomics(ACMG)guidelines.Results:WES identified 12 distinct genes across autosomal recessive(9 genes: AGXT, GRHPR, ATP6V1B1, SLC12A1, KCNJ1, SLC3A1, SLC7A9, SLC34A3, WFS1),autosomal dominant(2 genes: CASR, ADCY10),and X-linked recessive(1 gene: CLCN5)inheritance patterns. Genotype-phenotype correlations revealed mutations associated with primary hyperoxaluria(8 patients),hypercalciuria(7 patients),and renal malformation due to a WFS1 mutation(1 patient). A positive genetic diagnosis was achieved in 100% of patients with either urinary oxalate > 1 000 μmol/24 h or cystine stones. 8 patients received a diagnosis of hereditary stone disease at their first presentation(non-delayed group),while 13 experienced a mean diagnostic delay of(9.6 ± 3.9)years. The delayed diagnosis group had a significantly older age at initial stone onset[(10.2 ± 5.3)years vs.(6.8 ± 3.1)years, P = 0.03]and a higher incidence of impaired renal function(6 patients vs. 1 patient, P = 0.04). Analysis of diagnostic delay by gene subgroup showed delays in 2/4 patients with cystinuria[ SLC3A1/ SLC7A9;(8.2 ± 3.5)years],5/8 with primary hyperoxaluria[ AGXT/ GRHPR;(10.5 ± 4.1)years],5/7 with hypercalciuria-related genes[ CASR/ ADCY10/ SLC12A1/ KCNJ1/ SLC34A3;(9.8 ± 3.8)years],and 1/2 with other genes[ ATP6V1B1/ WFS1/ CLCN5;(7.6 ± 2.2)years]. Among 32 mutation sites detected,21 were classified as pathogenic/likely pathogenic and 11 as variants of uncertain significance. Four novel mutations were identified: ATP6V1B1(presenting with renal tubular acidosis,nephrocalcinosis,and hypocitraturia), WFS1(presenting with renal malrotation,hydronephrosis,and stones without metabolic abnormalities), SLC12A1(presenting with Bartter syndrome type 1,chronic renal insufficiency,hypercalciuria,hypocitraturia,alkalosis,and hyperaldosteronism),and SLC3A1(presenting with bilateral renal stones and cystinuria). Conclusions:WES is crucial in identifying the underlying etiology of urolithiasis and can guide targeted treatment. We recommend early WES for patients with an initial stone presentation before age 25,those with nephrocalcinosis,or those with abnormal metabolic workups to facilitate precise diagnosis and preventive care.
3.Application of domestic high-flow percutaneous left ventricular assist device in patients with low cardiac output syndrome after cardiac surgery: a preclinical trial report
Liangwan CHEN ; Qilian XIE ; Xiaofu DAI ; Zhihuang QIU ; Qianzhen LI ; Guanhua FANG ; Heng LU ; Qingsong WU ; Jun XIAO ; Zhaofeng ZHANG
Chinese Journal of Thoracic and Cardiovascular Surgery 2025;41(3):177-182
Objective:To report the preclinical trial results of the application of a domestic high-flow percutaneous left ventricular assist device (pLVAD) in patients with low cardiac output syndrome (LCOS) following cardiac surgery.Methods:Six patients who developed LCOS after direct cardiac surgery were implanted with a domestic high-flow pLVAD. Clinical outcomes, including hemodynamic changes, complications, and survival rates were observed post-implantation.Results:Four patients underwent pLVAD implantation under digital subtraction angiography (DSA) guidance, while two patients had the procedure performed under ultrasound guidance. The implantation process was straightforward, rapid, and uneventful, with no instances of bleeding or arrhythmias. The flow rate at the initiation of pLVAD support was 3.8-5.0 (4.22±0.44)L/min, and the flow rate during pump removal was 1.0-1.3(1.18±0.15)L/min. The duration of pLVAD support was 16.5-165.0(101.3±60.65)h. Hemodynamic parameters showed immediate improvement following pLVAD support: mean arterial pressure increased from (62.67±4.46)mmHg to (80.50±18.96)mmHg (1 mmHg=0.133 kPa, P=0.049), cardiac output increased from (2.45±0.66)L/min to (4.35±1.32)L/min( P=0.01), cardiac index improved from (1.95±0.21)L·min -1·m -2 to (2.77±0.33)L·min -1·m -2( P<0.001), pulmonary artery diastolic pressure decreased from (27.50±1.87) mmHg to(18.33±4.18)mmHg( P=0.001), and left ventricular ejection fraction improved from 0.27±0.04 to 0.37±0.06 ( P=0.004). No visible hemoglobinuria was noted during the support period. No malignant arrhythmias or cerebrovascular complications occurred. One patient required transition to surgical LVAD implantation, while the other five patients had the pLVAD successfully removed and were discharged. Three months later, all six patients were alive, with functional status classified as New York Heart Association (NYHA) Class Ⅰ-Ⅱ. Conclusion:The implantation of a domestic high-flow pLVAD provides a safe and effective therapeutic option for patients with LCOS following cardiac surgery.
4.Surveillance results of natural infection with pathogens in rodents in Huzhou City
DONG Zhenxin ; LUO Xiaofu ; LI Junwei ; ZHANG Zizhe ; SHEN Jianyong
Journal of Preventive Medicine 2025;37(11):1170-1174
Objective:
To investigate the detection of natural infection with pathogens in rodents in Huzhou City, Zhejiang Province, so as to provide a basis for risk assessment and control of rodent-borne diseases.
Methods:
From August to September each year during the period of 2022-2024, urban residential areas, rural residential areas, key industries, farmland and cultivated land, forests, and shrublands in various counties (districts) of Huzhou City were selected as rodent surveillance sites. Rodents were captured using the trap night method. Following anesthesia, the rodents were euthanized by cervical dislocation. Species were identified based on morphological characteristics. Under sterile conditions, dissection was performed to collect liver, spleen, lung, and kidney tissues. These tissues were then mixed together, and detected for Hantavirus, Dabie bandavirus, Leptospira, and Orientia tsutsugamushi using fluorescence quantitative PCR. The detection rates of these natural infections with pathogens were analyzed across different rodent species, counties (districts), and habitats.
Results:
A total of 259 rodents were captured from 2022 to 2024, including Rattus norvegicus, Rattus tanezumi, Suncus murinus, Mus musculus, Leopoldamys edwardsi, Niviventer fulvescens, Rattus losea, and Apodemus agrarius. The dominant species were Rattus norvegicus (142 individuals) and Rattus tanezumi (59 individuals), collectively accounting for 77.61%. With the exception of Orientia tsutsugamushi, Hantavirus, Dabie bandavirus, and Leptospira were all detected, with detection rates of 5.02%, 1.93%, and 10.42%, respectively. Hantavirus and Leptospira were simultaneously detected in one Rattus norvegicus, yielding a mixed infection rate of 0.39%. The three pathogens were detected in rodents in Wuxing District, Nanxun District, Deqing County, Changxing County, and Anji County, with detection rates of 6.45%, 5.71%, 26.32%, 4.76%, and 24.00%, respectively. They were also detected in rodents in urban residential areas, rural residential areas, key industries, farmland, and forests, with detection rates of 28.57%, 21.57%, 10.91%, 12.50%, and 14.81%, respectively. Notably, all three pathogens were simultaneously detected in Rattus norvegicus, Rattus tanezumi, rural residential areas, and key industries.
Conclusions
Rattus norvegicus and Rattus tanezumi were identified as the dominant rodent species in Huzhou City. The detection of Hantavirus, Dabie bandavirus, and Leptospira, including instances of mixed infection. It is necessary to enhance surveillance and control measures targeting these key species and high-risk habitats.
5.Analysis of risk factors and establishment of prediction model for early urinary incontinence after Holmium laser enucleation of the prostate
Xiaohan CHU ; Changbao XU ; Xiaofu WANG ; Hao LIU ; Shengwei ZHANG ; Changwei LIU ; Wuxue LI
Chinese Journal of Urology 2025;46(1):30-36
Objective:To investigate the independent risk factors for the occurrence of early urinary incontinence after Holmium laser enucleation of the prostate(HoLEP), and to construct a clinical risk predictive model for postoperative urinary incontinence.Methods:A retrospective analysis was conducted on the clinical data of 384 patients who underwent HoLEP between February 2019 and July 2024 at the Second Affiliated Hospital of Zhengzhou University. The cohort had a mean age of (68.3 ± 6.5) years, with a body mass index (BMI) of 22.45 (20.11, 24.39) kg/m 2. The median duration of lower urinary tract symptoms was 60 (36, 60) months. Of the patients, 104 (27.1%) had a history of diabetes mellitus, 139 (36.2%) had hypertension, and 54 (14.1%) had a preoperative indwelling urinary catheter. Additionally, 136 patients (35.4%) had a preoperative prostate-specific antigen (PSA) level ≥ 4 ng/ml, and 197 patients (51.3%) had a preoperative residual urine volume ≥ 50 ml. The International Prostate Symptom Score (IPSS) was ≥ 19 in 227 cases (59.1%). Preoperative detrusor instability was observed in 169 cases (44.0%), with a median maximal urinary flow rate of 5.9 (4.5, 9.3) ml/s and a median urinary flow rate of 4.0 (3.4, 7.3) ml/s. Moreover, 148 cases (38.5%) had a preoperative prostate volume ≥ 65 ml, and the preoperative median maximum urethral length (MUL) was 13.99 (12.40, 16.24) mm. Postoperative follow-up allowed for division of the patients into two groups: those with recovery of urinary control function and those with early postoperative urinary incontinence. The general characteristics of both groups were compared. Independent risk factors for early postoperative urinary incontinence were identified through multifactorial logistic regression. Variables with statistically significant differences were included in a column chart model created using R software. Internal validation was performed through repeated sampling with the Bootstrap method to assess the model's discriminative ability. Calibration curves were plotted to examine the consistency between predicted and actual outcomes, and the Hosmer-Lemeshow test was used to evaluate the model's fit. Results:This study included 384 patients, with 313 in the urinary control function recovery group and 71 in the early incontinence group. There were statistically significant difference between the two groups in age [≥70 years old: 91 (29.1%) vs. 33 (46.5%)], prostate volume [≥65 ml: 110 (35.1%) vs. 38 (53.5%)], MUL [14.21 (12.63, 16.24) mm vs. 13.12 (12.21, 13.95) mm], and non-inhibitory contraction of the urethra muscle in both groups [125 (39.9%) vs. 44 cases (62.0%)] ( P < 0.05). No significant differences were observed between the two groups in terms of BMI, disease duration, history of diabetes mellitus, preoperative catheterization, IPSS, preoperative PSA, residual bladder urine volume, maximum urinary flow rate, average urinary flow rate, operative time, or duration of indwelling urinary catheterization ( P > 0.05). Multifactorial logistic regression analysis revealed that age ≥ 70 years ( OR = 0.414, 95% CI 0.230-0.746, P = 0.003), prostate volume ≥ 65 ml ( OR=0.451, 95% CI 0.251-0.812, P=0.008), MUL( OR=0.688, 95% CI 0.590-0.802, P<0.001), and detrusor instability, uninhibited detrusor contraction ( OR=0.526, 95% CI 0.279-0.994, P=0.048) were independent risk factors for early postoperative urinary incontinence following HoLEP. A prediction model was developed based on these findings, and internal validation showed a C-index of 0.753. The calibration curve was close to the ideal curve, indicating that the model has good predictive performance. Conclusions:Age ≥70 years, prostate volume ≥65 ml, MUL, and uninhibited contraction of the urethra muscle were independent influences on early urinary incontinence after HoLEP, and the nomogram constructed in this way had good predictive performance for the risk of developing early urinary incontinence after HoLEP.
6.Analysis of risk factors and establishment of prediction model for early urinary incontinence after Holmium laser enucleation of the prostate
Xiaohan CHU ; Changbao XU ; Xiaofu WANG ; Hao LIU ; Shengwei ZHANG ; Changwei LIU ; Wuxue LI
Chinese Journal of Urology 2025;46(1):30-36
Objective:To investigate the independent risk factors for the occurrence of early urinary incontinence after Holmium laser enucleation of the prostate(HoLEP), and to construct a clinical risk predictive model for postoperative urinary incontinence.Methods:A retrospective analysis was conducted on the clinical data of 384 patients who underwent HoLEP between February 2019 and July 2024 at the Second Affiliated Hospital of Zhengzhou University. The cohort had a mean age of (68.3 ± 6.5) years, with a body mass index (BMI) of 22.45 (20.11, 24.39) kg/m 2. The median duration of lower urinary tract symptoms was 60 (36, 60) months. Of the patients, 104 (27.1%) had a history of diabetes mellitus, 139 (36.2%) had hypertension, and 54 (14.1%) had a preoperative indwelling urinary catheter. Additionally, 136 patients (35.4%) had a preoperative prostate-specific antigen (PSA) level ≥ 4 ng/ml, and 197 patients (51.3%) had a preoperative residual urine volume ≥ 50 ml. The International Prostate Symptom Score (IPSS) was ≥ 19 in 227 cases (59.1%). Preoperative detrusor instability was observed in 169 cases (44.0%), with a median maximal urinary flow rate of 5.9 (4.5, 9.3) ml/s and a median urinary flow rate of 4.0 (3.4, 7.3) ml/s. Moreover, 148 cases (38.5%) had a preoperative prostate volume ≥ 65 ml, and the preoperative median maximum urethral length (MUL) was 13.99 (12.40, 16.24) mm. Postoperative follow-up allowed for division of the patients into two groups: those with recovery of urinary control function and those with early postoperative urinary incontinence. The general characteristics of both groups were compared. Independent risk factors for early postoperative urinary incontinence were identified through multifactorial logistic regression. Variables with statistically significant differences were included in a column chart model created using R software. Internal validation was performed through repeated sampling with the Bootstrap method to assess the model's discriminative ability. Calibration curves were plotted to examine the consistency between predicted and actual outcomes, and the Hosmer-Lemeshow test was used to evaluate the model's fit. Results:This study included 384 patients, with 313 in the urinary control function recovery group and 71 in the early incontinence group. There were statistically significant difference between the two groups in age [≥70 years old: 91 (29.1%) vs. 33 (46.5%)], prostate volume [≥65 ml: 110 (35.1%) vs. 38 (53.5%)], MUL [14.21 (12.63, 16.24) mm vs. 13.12 (12.21, 13.95) mm], and non-inhibitory contraction of the urethra muscle in both groups [125 (39.9%) vs. 44 cases (62.0%)] ( P < 0.05). No significant differences were observed between the two groups in terms of BMI, disease duration, history of diabetes mellitus, preoperative catheterization, IPSS, preoperative PSA, residual bladder urine volume, maximum urinary flow rate, average urinary flow rate, operative time, or duration of indwelling urinary catheterization ( P > 0.05). Multifactorial logistic regression analysis revealed that age ≥ 70 years ( OR = 0.414, 95% CI 0.230-0.746, P = 0.003), prostate volume ≥ 65 ml ( OR=0.451, 95% CI 0.251-0.812, P=0.008), MUL( OR=0.688, 95% CI 0.590-0.802, P<0.001), and detrusor instability, uninhibited detrusor contraction ( OR=0.526, 95% CI 0.279-0.994, P=0.048) were independent risk factors for early postoperative urinary incontinence following HoLEP. A prediction model was developed based on these findings, and internal validation showed a C-index of 0.753. The calibration curve was close to the ideal curve, indicating that the model has good predictive performance. Conclusions:Age ≥70 years, prostate volume ≥65 ml, MUL, and uninhibited contraction of the urethra muscle were independent influences on early urinary incontinence after HoLEP, and the nomogram constructed in this way had good predictive performance for the risk of developing early urinary incontinence after HoLEP.
7.Preoperative prediction of factors associated with impacted ureteral stones and construction of a nomogram model
Xinyu SHI ; Haiyang WEI ; Changbao XU ; Wuxue LI ; Xiaofu WANG ; Tianhe ZHANG ; Zhiheng HUANG ; Xinghua ZHAO
Chinese Journal of Urology 2025;46(9):669-675
Objective:To explore the predictive factors for ureteral stone impaction preoperatively and to construct a nomogram prediction model for impacted ureteral stones.Methods:A retrospective analysis was conducted on the clinical data of 209 patients with ureteral stones treated at The Second Affiliated Hospital of Zhengzhou University from July 2023 to June 2024. There were 164 males(78.5%)and 45 females(21.5%). The age was 49(47,57)years,and the body mass index(BMI)was 25.10(23.55,27.24)kg/m2. Of the patients,85(40.7%)had comorbid hypertension and 85(40.7%)had comorbid diabetes. Stones were located on the left side in 124 patients(59.3%)and on the right side in 85 patients(40.7%). Hydronephrosis was present in 169 patients(80.9%),and urine culture was positive in 29 patients(13.9%). Patients were divided into impacted and non-impacted groups based on the presence or absence of ureteral stone impaction. Univariate and multivariate logistic regression analyses were performed to determine independent predictive factors for impacted ureteral stones. A nomogram model was constructed based on these results. The performance of the predictive model was evaluated using receiver operating characteristic(ROC)curves,calibration plots,and decision curve analysis(DCA).Results:Among the 209 patients in this study,85(40.7%)experienced ureteral stone impaction. The impacted group had a significantly higher neutrophil-to-lymphocyte ratio(NLR)than the non-impacted group(3.91 ± 2.05 vs. 3.25 ± 2.10, P = 0.024),a higher rate of hydronephrosis[81.2%(69/85)vs. 80.6%(100/124), P = 0.002],larger stone surface area[(64.96 ± 39.96)mm2 vs.(51.86 ± 39.80)mm2, P = 0.021],greater ureteral wall thickness(UWT)[(3.96 ± 1.37)mm vs.(3.06 ± 1.33)mm, P < 0.001],and a higher ratio of the upper ureter diameter(D1)to the lower ureter diameter(D2)(DDR)(2.87 ± 1.58 vs. 2.00 ± 0.99, P < 0.001). Univariate analysis showed that NLR,hydronephrosis,stone length,stone surface area,UWT,D1,D2,and DDR were statistically significant( P < 0.05). After multivariate logistic regression analysis,the following items were identified as independent predictors of impacted ureteral stones:NLR( OR = 1.205,95% CI 1.026 - 1.415, P = 0.023),hydronephrosis( OR = 1.840,95% CI 1.236 - 2.740, P = 0.003),stone length( OR = 1.587,95% CI 1.142 - 2.206, P = 0.006),ureteral wall thickness(UWT)( OR = 1.643,95% CI 1.263 - 2.136, P < 0.001),and DDR( OR = 2.907,95% CI 1.040 - 8.130, P = 0.042).Based on these independent predictive factors,a nomogram prediction model for impacted ureteral stones was constructed. The area under the ROC curve was 0.797(95% CI 0.737 - 0.858),and the calibration curve showed good consistency. The decision curve suggested that the model had good clinical net benefit. Conclusions:NLR,hydronephrosis,stone length,UWT,and DDR are all independent predictors for impacted ureteral stones. The nomogram model constructed based on these factors has good predictive performance.
8.The value of whole exome sequencing in the etiological diagnosis and treatment of urolithiasis
Yongli ZHAO ; Changbao XU ; Xiaofu WANG ; Xinyu SHI ; Changwei LIU ; Wuxue LI ; Danhua LIU ; Hongen XU
Chinese Journal of Urology 2025;46(10):739-744
Objective:To evaluate the role of whole exome sequencing(WES)in the etiological diagnosis and precision medicine management of patients with urolithiasis.Methods:We conducted a retrospective review of 21 patients with urolithiasis and pathogenic gene mutations identified by WES at The Second Affiliated Hospital of Zhengzhou University between April 2019 and March 2025. The cohort included 13 males and 8 females,with a mean age of(18.9 ± 11.1)years;18 patients were under 25 years old. Clinical presentations included nephrocalcinosis(8 patients)and urinary tract calculi(13 patients),with five patients exhibiting extra-renal manifestations such as renal tubular acidosis and hyperaldosteronism. Stone composition analysis identified calcium oxalate(16 patients),cystine(4 patients),and carbonate apatite(1 patient). Metabolic abnormalities were prevalent,including hypocitraturia(11 patients),hyperoxaluria(8 patients),and hypercalciuria(7 patients),with eight patients presenting two or more concurrent disorders. All patients underwent WES and comprehensive metabolic evaluation. Sequencing was performed on an Illumina Hiseq4000 platform,achieving a mean depth of > 100× and coverage of > 98% in target regions. Variants were classified according to the American College of Medical Genetics and Genomics(ACMG)guidelines.Results:WES identified 12 distinct genes across autosomal recessive(9 genes: AGXT, GRHPR, ATP6V1B1, SLC12A1, KCNJ1, SLC3A1, SLC7A9, SLC34A3, WFS1),autosomal dominant(2 genes: CASR, ADCY10),and X-linked recessive(1 gene: CLCN5)inheritance patterns. Genotype-phenotype correlations revealed mutations associated with primary hyperoxaluria(8 patients),hypercalciuria(7 patients),and renal malformation due to a WFS1 mutation(1 patient). A positive genetic diagnosis was achieved in 100% of patients with either urinary oxalate > 1 000 μmol/24 h or cystine stones. 8 patients received a diagnosis of hereditary stone disease at their first presentation(non-delayed group),while 13 experienced a mean diagnostic delay of(9.6 ± 3.9)years. The delayed diagnosis group had a significantly older age at initial stone onset[(10.2 ± 5.3)years vs.(6.8 ± 3.1)years, P = 0.03]and a higher incidence of impaired renal function(6 patients vs. 1 patient, P = 0.04). Analysis of diagnostic delay by gene subgroup showed delays in 2/4 patients with cystinuria[ SLC3A1/ SLC7A9;(8.2 ± 3.5)years],5/8 with primary hyperoxaluria[ AGXT/ GRHPR;(10.5 ± 4.1)years],5/7 with hypercalciuria-related genes[ CASR/ ADCY10/ SLC12A1/ KCNJ1/ SLC34A3;(9.8 ± 3.8)years],and 1/2 with other genes[ ATP6V1B1/ WFS1/ CLCN5;(7.6 ± 2.2)years]. Among 32 mutation sites detected,21 were classified as pathogenic/likely pathogenic and 11 as variants of uncertain significance. Four novel mutations were identified: ATP6V1B1(presenting with renal tubular acidosis,nephrocalcinosis,and hypocitraturia), WFS1(presenting with renal malrotation,hydronephrosis,and stones without metabolic abnormalities), SLC12A1(presenting with Bartter syndrome type 1,chronic renal insufficiency,hypercalciuria,hypocitraturia,alkalosis,and hyperaldosteronism),and SLC3A1(presenting with bilateral renal stones and cystinuria). Conclusions:WES is crucial in identifying the underlying etiology of urolithiasis and can guide targeted treatment. We recommend early WES for patients with an initial stone presentation before age 25,those with nephrocalcinosis,or those with abnormal metabolic workups to facilitate precise diagnosis and preventive care.
9.Application of domestic high-flow percutaneous left ventricular assist device in patients with low cardiac output syndrome after cardiac surgery: a preclinical trial report
Liangwan CHEN ; Qilian XIE ; Xiaofu DAI ; Zhihuang QIU ; Qianzhen LI ; Guanhua FANG ; Heng LU ; Qingsong WU ; Jun XIAO ; Zhaofeng ZHANG
Chinese Journal of Thoracic and Cardiovascular Surgery 2025;41(3):177-182
Objective:To report the preclinical trial results of the application of a domestic high-flow percutaneous left ventricular assist device (pLVAD) in patients with low cardiac output syndrome (LCOS) following cardiac surgery.Methods:Six patients who developed LCOS after direct cardiac surgery were implanted with a domestic high-flow pLVAD. Clinical outcomes, including hemodynamic changes, complications, and survival rates were observed post-implantation.Results:Four patients underwent pLVAD implantation under digital subtraction angiography (DSA) guidance, while two patients had the procedure performed under ultrasound guidance. The implantation process was straightforward, rapid, and uneventful, with no instances of bleeding or arrhythmias. The flow rate at the initiation of pLVAD support was 3.8-5.0 (4.22±0.44)L/min, and the flow rate during pump removal was 1.0-1.3(1.18±0.15)L/min. The duration of pLVAD support was 16.5-165.0(101.3±60.65)h. Hemodynamic parameters showed immediate improvement following pLVAD support: mean arterial pressure increased from (62.67±4.46)mmHg to (80.50±18.96)mmHg (1 mmHg=0.133 kPa, P=0.049), cardiac output increased from (2.45±0.66)L/min to (4.35±1.32)L/min( P=0.01), cardiac index improved from (1.95±0.21)L·min -1·m -2 to (2.77±0.33)L·min -1·m -2( P<0.001), pulmonary artery diastolic pressure decreased from (27.50±1.87) mmHg to(18.33±4.18)mmHg( P=0.001), and left ventricular ejection fraction improved from 0.27±0.04 to 0.37±0.06 ( P=0.004). No visible hemoglobinuria was noted during the support period. No malignant arrhythmias or cerebrovascular complications occurred. One patient required transition to surgical LVAD implantation, while the other five patients had the pLVAD successfully removed and were discharged. Three months later, all six patients were alive, with functional status classified as New York Heart Association (NYHA) Class Ⅰ-Ⅱ. Conclusion:The implantation of a domestic high-flow pLVAD provides a safe and effective therapeutic option for patients with LCOS following cardiac surgery.
10.Advances in interventional therapies for pancreatic cancer pain
Wandi ZHANG ; Xiaofu ZHANG ; Baoshan WANG ; Guojun HAO ; Peiyong LI ; Dongfeng SHEN
Journal of Interventional Radiology 2024;33(7):801-807
Clinically,pancreatic cancer is a highly aggressive tumor,and neurotropic growth is an important biological feature of pancreatic cancer.Nerve invasion brings great pain burden to patients,and it seriously affects the quality of life and the will to survive of patients.The"three-step analgesia principle"for the management of cancer pain proposed by World Health Organization(WHO)is a traditional therapeutic regimen for cancer pain.However,because of its obvious toxic side effects,poor efficacy,easy addiction,easy drug resistance,non-standard medication of clinical physicians,etc.,the"three-step analgesia principle"is unable to meet the needs of the patient's condition..In recent years,with the development of interventional technology and the development of extensive clinical trials,the interventional means,which is regarded as the"fourth step"of cancer pain management,has achieved great clinical effect,it includes various therapeutic methods and imaging-guided techniques such as neural destruction(denervation),125I particle implantation,patient-controlled analgesic pump technology,implantation of intrathecal drug infusion system,etc.,and clinical practice has proved that these techniques have significant clinical efficacy and they can provide a convenient,safe and effective treatment method for HCC patients.


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