Objective:To investigate the effects of unilateral ureteral obstruction on renal pelvic peristalsis and pacemaker cells in neonatal rats.Methods:An animal experimental study.Thirty-six 2-day-old newborn SD rats were randomly divided into the partial unilateral ureteral obstruction (PUUO) group, complete unilateral ureteral obstruction (CUUO) group, and sham operation group, with 12 rats in each group.One week after surgery, all rats were subjected to renal pelvic pressure (RPP) measurement by puncture.After measurement, the rats were euthanized, and their left renal pelvis and ureter were removed and fixed for histological examination.Parameters such as RPP, peristaltic wave frequency and amplitude at different perfusion speeds were recorded and compared, and the changes in pacemaker cells (atypical smooth muscle cells and Cajal-like interstitial cells) were also compared.The independent samples t-test was used for comparison between 2 groups, and the one-way ANOVA of variance was used for comparison among 3 groups. Results:In the sham operation group, the RPP increased gradually with the increase of perfusion speed; the frequency of peristaltic waves rose rapidly and then dropped after reaching the highest level with the increase of perfusion speed; similarly, the amplitude of peristaltic waves first increased and then decreased as the perfusion speed increased.In the PUUO group, the RPP increased rapidly with the increase of perfusion speed, higher than that in the sham operation group; the frequency of peristaltic waves was higher than that in the sham operation group, and it was relatively constant under the perfusion speed of 40 mL/h, but when the perfusion speed increased again, the frequency began to decline; the amplitude of peristaltic waves increased quickly and then declined at a faster rate than the sham operation group with the increase of perfusion speed.In the CUUO group, the basic RPP was 12 cmH 2O(1 cmH 2O=0.098 kPa); at the perfusion speed of 5 mL/h, the RPP rose gradually, and no plateau appeared; when the RPP reached 73 cmH 2O, the perfusate retrograded from the side of the puncture needle, then the RPP slightly decreased and then balanced, and no regular peristaltic waves were observed in the renal pelvis throughout the whole perfusion process.Immunofluorescence staining analysis showed the pacemaker cells were all located in the smooth muscle of the renal pelvic wall.The sham operation group had the highest positive rate, followed by the PUUO group and then the CUUO group. Conclusions:Ureteral obstruction has a significant impact on the peristalsis of the renal pelvis, and its impact on the peristaltic wave frequency and amplitude and RPP can be predicted.The reduction of pacemaker cells in the renal pelvis may be involved in the changes of renal pelvic peristalsis caused by ureteral obstruction, but further research is needed on how pacemaker cells regulate the peristalsis of the renal pelvis and ureter.

Objective:To investigate the correlation between urinary electrolyte level and detrusor overactivity (DO) in children with primary monosymptomatic nocturnal enuresis (PMNE).Methods:In this case control study, a retrospective analysis was performed on 60 PMNE children aged 5-12 years who were admitted to the First Affiliated Hospital of Zhengzhou University from February 2015 to January 2020.According to the results of ambulatory urodynamic monitoring (AUM), there were 36 patients in the nocturnal DO group [(19 males and 17 females, mean age(9.4±2.1) years, mean body mass index (BMI)(18.90±2.66) kg/m 2], and 24 patients in the non-nocturnal DO group [16 males and 8 females, mean age(9.0±1.9) years, mean BMI(18.85±2.50) kg/m 2].Daytime and nighttime urine volume and average urine electrolyte levels were measured. t-test, Chi-square test or Mann-Whitney U test were used for comparison between groups.Spearman rating coefficient was used to evaluate the correlation between average electrolyte level and maximum detrusor pressure during nighttime bladder storage. Results:There were no statistically significant differences in age, gender ratio, and BMI between the two groups (all P>0.05).The nocturnal urine volume [0.291(0.194, 0.408) L] and the frequency of nocturnal polyuria (33.0%) in the nocturnal DO group were significantly lower than those [0.420 (0.298, 0.673) L and 62.5%](all P<0.05) in the non-nocturnal DO group.The levels of nocturnal urine sodium [(181.13±102.39) mmol/L], calcium [(3.68±2.44) mmol/L], and chloride [(147.89±57.21) mmol/L] in the nocturnal DO group were significantly higher than those [levels of nocturnal urine sodium [(132.15±67.42) mmol/L], calcium [(1.98±2.07) mmol/L], and chloride [(110.95±54.27) mmol/L] in the non-nocturnal DO group (all P<0.05).However, there was no statistically significant difference in the level of nocturnal urine potassium between the two groups ( P>0.05).The levels of diurnal urine sodium, potassium, calcium, and chloride showed no statistically significant differences between the two groups (all P>0.05).The levels of nocturnal urine sodium [(181.13±102.39) mmol/L] and calcium [(3.68±2.44) mmol/L] in the nocturnal DO group were significantly higher than the levels of diurnal urine sodium [(132.48±79.84) mmol/L] and calcium [(1.48±1.20) mmol/L](all P<0.05); however, there was no statistically significant difference in the levels of nocturnal urine potassium and chloride compared to diurnal levels (all P>0.05).In the non-nocturnal DO group, there were no statistically significant differences in the levels of diurnal and nocturnal urine sodium, potassium, calcium, and chloride (all P>0.05).Additionally, the level of nocturnal urine calcium in the nocturnal DO group was positively correlated with the maximum detrusor pressure during the bladder storage period ( r=0.501, P<0.05). Conclusions:The increased nocturnal urine sodium, calcium, and chloride levels in children with PMNE may be one of the important reasons for the occurrence of nocturnal bladder dysfunction.

To explore the application value of endoscopic ultrasound fine-needle aspiration (EUS-FNA) and endoscopic retrograde cholangiopancreatography (ERCP) in the diagnosis and treatment ofpatients with pancreatic cancer combined with obstructive jaundice.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective:To assess the efficacy of endoscopic transmural drainage, transpapillary drainage and their combination in reducing cyst recurrence in patients with disconnected pancreatic duct syndrome (DPDS).Methods:A retrospective study was conducted involving 22 patients diagnosed as having DPDS in Peking Union Medical College Hospital from January 2018 to December 2022. Patient data including clinical information, imaging characteristics, drainage technique, complications, and outcomes were extracted from the medical records and telephone follow-up.Results:There were 27 endoscopic treatments in 22 patients, which were categorized into 3 groups based on the procedural approach: transmural in 11 cases, transpapillary in 8, and the combination of both in 8. The combined drainage group exhibited a significantly higher drainage success rate (100.0%, 8/8) compared with the transpapillary group (50.0%, 4/8, P=0.012), with no significant difference compared with the transmural group [90.9% (10/11), P=0.621]. The one-year recurrence rate was significantly lower in the combined drainage group [0.0% (0/8)] than that in the transmural drainage group [55.6% (5/9), P=0.018], and transpapillary drainage alone [42.9% (3/7)] though it did not reach significance ( P=0.085). No significant differences were observed in treatment success rate [45.5% (5/11), 75.0% (6/8) and 87.5% (7/8), H=3.890, P=0.143], or complication incidence [54.5% (6/11), 75.0% (6/8) and 25.0% (2/8), H=3.909, P=0.142]. Conclusion:Transmural drainage combined with pancreatic duct stent placement results in satisfactory drainage of cystic fluid in the short term and significantly reduces one-year recurrence among patients with DPDS.

Of the common urinary dysfunctions in children, pediatric neurogenic bladder (PNB) is the most challengeable abnormality. It is well known that PNB is mostly caused by dysplasia of the lumbosacral spinal cord and nerves, which seriously affects the quality of life and the physical and mental health of children. The clinical symptoms are not obvious in minor cases, but severe upper urinary tract damage occurs in severe cases. Urodynamic study (UDS) is the best way to detect and determine the type of dysfunction at an early stage, and can guide the formulation of accurate and individualized treatment protocol. However, UDS in children has not been popularized in China, which seriously affects the level of diagnosis and treatment of PNB. This article reviews the importance of UDS so as to provide reference for the diagnosis and treatment of PNB.

【Objective】 To investigate the possibility of using voiding diary (VD) to predict desmopressin diacetate arginine vasopressin (DDAVP) and enuresis alarm (EA) in the treatment of primary monosymptomatic nocturnal enuresis (PMNE). 【Methods】 A total of 100 children (aged 6 to 14 years) with PMNE treated during Jan.2018 and Oct.2022 were involved. Bladder type was classified with two-week VD. Pseudo-randomization was performed using the Danish REDCap system to group patients into the randomized group and VD group. All patients were treated for 8 weeks. 【Results】 A total of 82 cases met the inclusive criteria. The effective rate was 82.50% (33/40) and 59.52% (25/42) in the VD and randomized groups, respectively, with significant difference (χ²=5.224, P=0.022). In the randomized group, if VD was not considered, the effective rate in the DDAVP and EA subgroups was 81.82% (18/22) and 25.00% (5/20), respectively, with significant difference (χ²=13.625, P=0.000). 【Conclusion】 VD can predict the therapeutic effects of PMNE. It is necessary to record VD for two weeks before selecting appropriate treatment methods. For patients who choose treatment without reference to VD, DDAVP shows better response than EA, but the recurrence rate after discontinuation of treatment requires further follow-up.

Objective:To explore the value of the static and dynamic pelvic floor MRI and diffusion tensor imaging (DTI) in evaluating the morphology and function of urethra in patients with stress urinary incontinence (SUI).Methods:From July 2020 to February 2021, a total of 28 patients with SUI and 45 age-matched healthy controls were prospectively collected at the First Affiliated Hospital of Zhengzhou University. The static and dynamic pelvic floor MRI and DTI were performed for all subjects. The thickness of internal and external sphincter of middle urethra were measured on static MRI images. The functional urethral length (FUL) was measured both on static and maximal strain phase of dynamic MRI images, then the difference of FUL was calculated. The presence of bladder neck funneling and urethra opening were observed on static and dynamic MRI. The muscle fiber bundle image of urethral sphincter complex was obtained by post-processing of DTI original images. The anisotropy fraction (FA), apparent diffusion coefficient (ADC) and three eigenvalues (λ1, λ2, λ3) of annular sphincter and central longitudinal muscle in middle urethra were measured. The independent sample t test and chi-square test were used to analyse the difference of measured parameters in MRI, parameters of DTI and imaging signs between the two groups. Results:Compared with healthy controls, the SUI patients showed that the thickness of external sphincter in middle urethral and FUL in static status and maximal strain phase were significantly decreased ( t=-3.95, -5.72, -8.41, all P<0.001), the difference of FUL between static status and maximal strain phase was significantly increased ( t=4.41, P<0.001). The positive rate of bladder neck funneling in static status and maximal strain phase, urethral opening in maximal strain phase of SUI group increased significantly (χ2=23.09 , 22.25, 26.59, all P<0.001). In SUI group, the FA value of middle urethral annular sphincter decreased significantly ( t=-3.48, P=0.001), while the ADC, λ2 and λ3 values increased significantly ( t=3.19, 2.15 , 2.06, and P=0.002, 0.038 , 0.046, respectively). There was no significant difference in DTI parameters of middle urethral longitudinal muscle between the two groups (all P>0.05). Conclusions:Static and dynamic MRI and DTI techniques can objectively evaluate the changes of urethral morphology and function of SUI patients. The thinning of the external sphincter in the middle urethra, shortening of the FUL and the destruction of the microstructure of the annular sphincter fiber bundle were the main alterations of SUI patients.

Objective:To investigate the urodynamic characteristics in parkinsonian-type multiple system atrophy (MSA-P) and Parkinson′s disease (PD) patients with lower urinary tract symptoms (LUTS) and to identify the differential diagnostic ability of urodynamic study.Methods:Sixty-eight MSA-P patients and 85 PD patients with LUTS who underwent urodynamic studies and were hospitalized in the First Affiliated Hospital of Zhengzhou University from February 2017 to December 2020 were reviewed. The receiver operating characteristic (ROC) curve was used to evaluate the discriminatory power of urodynamic parameters.Results:Compared with PD, patients with MSA-P had shorter disease duration [2.70 (2.05, 3.00) years vs 5.00 (4.00, 6.00) years, Z=-7.44, P<0.001]. In free uroflowmetry (UFM) and pressure-flow study (PFS), patients with MSA-P showed lower maximal flow rate [Qmax; UFM-Qmax 6.00 (3.00, 8.75) ml/s vs 9.00 (6.00, 14.00) ml/s, Z=-4.31, P<0.001; PFS-Qmax[6.00 (3.00, 8.75) ml/s vs 9.00 (6.00, 14.00) ml/s, Z=-4.03, P<0.001] and larger postvoid residual [PVR;UFM-PVR 207.50 (113.75, 280.00) ml vs 45.00 (10.00, 117.50) ml, Z =-6.03, P<0.001; PFS-PVR 269.00 (148.75, 337.50) ml vs 75.00 (20.00, 167.50) ml, Z=-6.55, P<0.001)] with decreased compliance [42.65% (29/68) vs 14.12% (12/85), χ 2=15.68, P<0.001], decreased detrusor pressure at maximun flow rate [PdetQmax; 13.00 (6.00, 27.75) cmH 2O vs 27.00 (15.00, 39.50) cmH 2O, Z=-4.65, P<0.001; 1 cmH 2O=0.098 kPa] and impaired contractility [43.00 (34.00, 59.25) vs 79.00 (46.50, 100.00), Z=-5.44, P<0.001]. Compared with the MSA-P patients, detrusor overactivity (DO) was prominent in PD [54.41% (37/68) vs 78.82% (67/85), χ 2=10.34, P=0.001]. The ROC curve results showed that PFS-PVR had highest area under the curve (AUC), which was 0.81 (95% CI 0.74-0.88, P<0.001), followed by UFM-PVR, bladder contractility index and PdetQmax (0.78, 0.76 and 0.72, respectively). Conclusions:Patients with MSA-P showed lower Qmax and larger PVR with decreased bladder compliance and impaired contractility, while patients with PD had higher incidence of DO. The ROC results showed that PFS-PVR had the highest AUC and specificity in the differential diagnosis of MSA-P and PD,indicating that urodynamic study is a useful tool in differential diagnosis of patients with MSA-P and PD with lower urinary tract symptoms.