Research progress on genotype and phenotype of primary hyperoxaluria type 3 / 国际外科学杂志

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.

Evaluation of the therapeutic effect of autologous serum on neurotrophic keratopathy with persistent corneal epithelial defect / 中华实验眼科杂志

Objective:To evaluate the outcomes of autologous serum eye drops on persistent corneal epithelial defect caused by neurotrophic keratopathy (NK).Methods:An observational case series study was performed.Twenty patients (20 eyes) diagnosed with NK and persistent corneal epithelial defect were enrolled in Beijing Tongren Hospital from January 2020 to January 2021.The affected eyes were graded according to the severity of the lesion and received individualized comprehensive treatment with domestic autologous serum eye drops as the main therapy.The healing time of the corneal epithelial defect after treatment was recorded.The diameter and area of the defect were marked by corneal fluorescein staining.Changes in the diameter and area of the defect before treatment and at 1, 2, 3, 4 and 8 weeks after treatment were observed by slit lamp microscopy at 10×.Logarithm of the minimum angle of resolution (LogMAR) visual acuity was recorded with a standard logarithmic visual chart before treatment and at 1, 2, 4, 12, and 24 weeks after treatment.Changes in corneal nerve fiber distribution and silk length of corneal perception were assessed by confocal laser scanning microscopy and Cochet-Bonnet esthesiometry, respectively, before treatment and at 4, 12, and 24 weeks after treatment.Influences of corneal defect characteristics on the healing time were analyzed by multiple linear regression analysis.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Beijing Tongren Hospital Affiliated to Capital Medical University (No.TRECKY2021-110). Written informed consent was obtained from each subject.Results:The corneal epithelial defect was 5.00 (4.00, 5.75) mm in diameter and 15.50 (12.00, 20.00) mm 2 in area before treatment.There were 45% (9/20) with corneal stroma edema and 35% (7/20) with endothelial fold.One diabetic patient with uveitis had a corneal epithelial defect area greater than 8 mm×6 mm and accepted additional corneal clearance and amniotic membrane transplantation after 2 weeks of autologous serum eye drops application.The other 19 patients received autologous serum eye drops therapy.All eyes showed complete recovery.The pretreatment duration of autologous serum eye drops ranged from 2 weeks to 3 months, with a mean of (39.55±25.34) days.The repair time of corneal epithelium ranged from 12 to 42 days, with a mean of (19.68±9.25) days.There were statistically significant differences in corneal defect diameter and area between before and after treatment ( χ2=43.130, 28.265; both at P<0.001). Corneal defect area and diameter decreased at various time points after treatment compared to before treatment, and the differences were statistically significant (all at P<0.05). There were statistically significant differences in LogMAR visual acuity between before and after treatment ( χ2=84.229, P<0.001). LogMAR visual acuity improved at 1, 2, 4, 12, and 24 weeks after treatment compared to pretreatment, and the differences were statistically significant (all at P<0.05). There were statistically significant differences in silk length of corneal perception between before and after treatment ( χ2=55.295, P<0.001). Silk length of corneal perception improved at 4, 12 and 24 weeks compared to pretreatment, and the differences were statistically significant (all at P<0.05). Baseline corneal defect severity grade was positively correlated with healing time ( β=10.55, P=0.032). Corneal defect diameter and area had no influence on the healing time ( β=-2.02, P=0.501; β=0.49, P=0.199). Conclusions:Autologous serum eye drop therapy is safe and effective for persistent corneal defects caused by NK.Re-application of autologous serum eye drops is still effective in individual patients with recurrent corneal defects after discontinuation of serum treatment.It can be combined with surgery for intractable cases.

Lower urinary tract injury in transvaginal reconstructive pelvic surgery / 中华妇产科杂志

Objective:To explore the characteristics, prevention and treatment strategies of lower urinary tract injury in transvaginal reconstructive pelvic surgery (vRPS).Methods:A retrospective analysis was conducted on 24 patients who suffered lower urinary tract injuries occuring in vRPS from January 2005 to June 2021, among which 4 cases were referred to our hospital from other hospitals.Results:(1) In our hospital, 1 952 patients underwent vRPS for anterior and (or) middle pelvic organ prolapse during that study period, with a 1.0% (20/1 952) incidence of lower urinary tract injuries occurring in 20 cases. (2) Ureteral injuries were observed in 14 cases who underwent transvaginal high uterosacral ligament suspension (1.4%, 14/966). The symptoms were relieved after the removal of sutures. (3) Bladder injuries occurred in 6 cases in our hospital, with 4 cases (0.7%, 4/576) in anterior transvaginal mesh surgery (aTVM), one (0.4%, 1/260) in colpocleisis, and one (0.7%, 1/150) in apical suspension for fornix prolapse. An additional 4 cases of bladder injury were referred to our hospital after aTVM. Among the 8 cases of bladder injury during aTVM, 2 cases were intraoperative incidents. Cystoscopy confirmed that the superficial branch or puncture rod of anterior vaginal mesh had penetrated into the bladder. Re-puncturing and placement of the mesh were successfully performed. No abnormalities were observed during a follow-up period of 4-5 years. Postoperative bladder injuries were identified in 6 cases, characterized by mesh erosion into the bladder and formation of calculi. These injuries were confirmed between 6 months to 2 years after vRPS. The exposed mesh and calculi in the bladder were removed through laparotomy or cystoscopy, followed up for 2-12 years. One case experienced slight re-erosion of mesh to the bladder.Conclusions:Lower urinary tract injuries are difficult to avoid in vRPS, particularly in transvaginal high uterosacral ligament suspension and aTVM. However, the incidence is low. Lower urinary tract injuries during vRPS could be easily detected and managed intraoperatively because of the use of cystoscopy. As long-term postoperative complications, erosion of transvaginal mesh to lower urinary tract postoperatively could be treated correctly, seldom with severe sequelae.

Renal abscess induced by fish bone ingestion: a case report / 中华泌尿外科杂志

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.

Advances in the gene therapy of primary hyperoxaluria / 中华泌尿外科杂志

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.

Construction of standardized training program for post-entry nursing postgraduates / 中国实用护理杂志

Objective:To construct a standardized training program for full-time nursing postgraduate students, and to provide a basis for the training the high-quality nursing talents in hospitals.Methods:Through literature review and demi structured interview, preliminarily develop the training program was established from January to March 2021. Through two rounds of expert consultations of 16 experts, the standardized training program for nursing postgraduates was formulated.Results:The recovery rate of the two rounds were both 16/16. The expert authority coefficients of the two rounds of consultation were 0.819, respectively. The Kendall′s coordination coefficients of the two rounds of consultation were 0.329 and 0.334, respectively, and the difference was statistically significant ( P< 0.01). Finally, a standardized training program for entry-level nursing postgraduates was formed, which included five parts: training objects and quality requirements, training methods, training objectives, training contents and evaluation, with a total of 225 items. Conclusions:The standardized training program for nursing postgraduates formed is reliable, scientific and practical, which provides guidance and reference for the training and use of highly educated clinical nursing talents in hospitals.

Influencing factors of milk volume in mothers of preterm infants in neonatal intensive care unit during maternal separation / 中华围产医学杂志

Objective:To analyze the factors influencing breast milk volume in mothers of preterm infants during the period of maternal separation.Methods:This study retrospectively analyzed the data from lactation diaries of mothers of preterm infants ( n=371) in neonatal intensive care unit from the first Affiliated Hospital of Zhengzhou University from January 2017 to August 2021. According to whether the milk production reached 800 ml/d or not within two weeks after delivery, these women were divided into the reached group ( n=289) or unreached group ( n=82). Two independent sample t-test and Chi-square test were used for univariate analysis, and logistic regression was used to analyze the influencing factors. Results:Mothers who achieved the target milk volume accounted for 77.9% (289/371). There were no statistically significant differences in the ratio of milk production ≥50 ml between breasts or between two adjacent breastfeeding sessions (both P>0.05), while there were statistically significant differences in the maternal education background[high school education or below:16.3% (47/289) vs 41.5% (34/82); junior college or above:83.7% (242/289) vs 58.5% (48/82); χ2=23.77], type of breast pump [diaphragm breast pump:34.9% (101/289) vs 51.2% (42/82); piston pump: 65.1% (188/289) vs 48.8% (40/82); χ2=7.14], pre-pregnancy body mass index [<18.5 kg/m 2: 3.5% (10/289) vs 4.9% (4/82);≥18.5～<24.0 kg/m 2: 90.7% (262/289) vs 61.0% (50/82); ≥24.0 kg/m 2: 5.9% (17/289) vs 34.1% (28/82); χ2=40.89], and the initiation of lactation instruction [within 7 d after delivery: 77.2% (223/289) vs 45.1% (37/82);at 7-14 d after delivery: 22.8%(66/289) vs 54.9%(45/82); χ2=31.28] between the reached and unreached group (all P<0.05). Logistic regression analysis showed that high school education or below ( OR=4.279, 95% CI: 2.253-8.126, P<0.001), diaphragm breast pump ( OR=2.352, 95% CI: 1.309-4.226, P=0.004), pre-pregnancy body mass index ≥24.0 kg/m 2 ( OR=9.352, 95% CI: 4.389-19.928, P<0.001), and seeking lactation consultation at 7-14 d after delivery ( OR=3.654, 95% CI: 2.043-6.535, P<0.001) were risk factors for not achieving the target milk volume. Conclusions:Instruction on breastfeeding for less-educated mothers of preterm infants should be strengthened. Using piston breast pump, maintaining pre-pregnancy body mass index within the normal range, and receiving lactation instruction as early as possible will contribute to achieving the target milk volume.

Advances of monogenic kidney stone diseases associated with purine metabolism / 中华泌尿外科杂志

Some kidney stones are caused by single gene mutations, and monogenic kidney stone diseases associated with purine metabolic disorder mainly including adenine phosphoribosyltransferase(APRT) deficiency, hypoxanthine-guanine phosphoribosyltransferase(HPRT)deficiency, hereditary xanthinuria(HX), and some diseases caused by gene mutations such as PRS1, SLC22A12, SLC2A9 and ABCG2. Such diseases can lead to abnormal metabolism of purine and uric acid, and then form 2, 8-dihydroxyadenine stones, uric acid stones or xanthine stones. This kind of diseases are rare, the genotype and phenotype of different types of monogenic diseases related to purine metabolism have their own characteristics and are not widely recognized. At present, the main treatment is medical therapy. Gene sequencing will make the diagnosis and find more disease-related genes or mutations. Gene editing, such as CRISPR/Cas9 technology, makes it possible to cure monogenic kidney stone diseases associated with purine metabolism disorder in the future.

Research progress on genotype and phenotype of primary hyperoxaluria / 国际外科学杂志

Primary hyperoxaluria (PH) are important causes of kidney stone and chronic kidney stone disease in children. Recurrent kidney stone disease and nephrocalcinosis should alter the physician to the possibility of an inborn error of metabolism as the underlying cause. Unfortunately, the lack of recognition of genotype and phenotype of PH resulted in an unacceptable delay in diagnosis and treatment, sometimes with grave consequences. This paper review the characteristics of genotype and phenotype, genotype-phenotype correlation, current treatment and future gene therapy of PH.

Research progress of monogenic nephrocalcinosis / 国际外科学杂志

Nephrocalcinosis is often accompanied by kidney stone disease. In recent years, more and more nephrocalcinosis has been found to be caused by a monogenic disease, and its pathogenesis has not been fully elucidated. With the development of molecular genetics, more than 30 genes have been found to be the causative genes of nephrocalcinosis. At the same time, with the widespread development of genetic testing technology, more patients have received early diagnosis and timely intervention. This article reviews the clinical and basic research progress of monogenic nephrocalcinosis.

Effectiveness of abdominal minimal incision sacrocolpopexy for advanced pelvic organ prolapse / 中华妇产科杂志

Objective:To evaluate the indications, surgical skills and clinic outcomes of abdominal minimal incision sacrocolpopexy (AMISC) for treatment of advanced pelvic organ prolapse (POP).Methods:The retrospective study analyzed 30 women with advanced POP who underwent AMISC between June 2016 and October 2019, including 9 cases of recurrent prolapse and 10 cases of vault prolapse. AMISC was especially applicable to: (1) patients with several medical complications who was unable to tolerate general anesthesia or laparoscopic surgery, but able to tolerate combined spinal-epidural anesthesia and open surgery; (2) other abdominal procedures were indicated to perform with AMISC simultaneously, such as myomectomy, subtotal hysterectomy etc, the specimens were easy to get out of the abdominal cavity and morcellation was avoided; (3) surgeons preferring open surgery to laparoscopic surgery or skilled in open surgery; (4) patients with prior pelvic operations, presenting severe abdominal and pelvic adhesions. Objective outcomes were assessed by pelvic organ prolapse quantification (POP-Q) system. Subjective outcome were assessed by pelvic floor distress inventory-short form 20 (PFDI-20), pelvic floor impact questionnaire-short form (PFIQ-7) and patient global impression of improvement (PGI-I).Results:All patients with 1-3 medical complications were successfully performed with AMISC without stopping procedure, enlarging the incision or changing to other procedure, the operation duration was (110±19) minutes. The mean time of follow-up was (33.5±12.4) months (range: 8-49 months). The postoperative points of Aa, Ba, C, Ap, Bp reduced significantly and point C improved from (2.33±2.50) cm to (-7.54±1.18) cm after AMISC ( P<0.01). The objective cure rates were both 100% (30/30) in apex and posterior compartment, while 97% (29/30) in anterior compartment. Postoperative scores of PFDI-20 and PFIQ-7 were all significant decreased (all P<0.01). About PGI-I, 29 patients chose “significant improvement”, subjective satisfaction was 97% (29/30). Anterior sacral plexus hemorrhage occurred in 2 cases (7%, 2/30). There was no intestinal obstruction or injury of bladder, bowel and ureter intra- and postoperation. Two cases (7%, 2/30) had mesh exposure. Conclusion:AMISC is a safety, convenient, minimal traumatic and durable procedure for apical prolapse with short learning curve in the most of cases.

Epidemiological characteristics and associated risk factors of lower urinary tract symptoms in young obese males / 国际外科学杂志

Objective@#To investigate the epidemiological characteristics and its associated risk factors of lower urinary tract symptoms in young Chinese obese males.@*Methods@#A total of 126 young males aged 20-40 years admitted to Beijing Friendship Hospital, Capital Medical University were enrolled into two different groups in this study, including 74 obese patients visited metabolic weight loss clinic were included in the experimental group, and 52 conditionally healthy persons were included in the control group. Blood pressure (systolic blood pressure, diastolic blood pressure), insulin resistance (fasting blood glucose, insulin, C-peptide), blood lipid metabolism (triglycerides, high-density lipoprotein cholesterol), and sex hormones (estrogen) of the two groups of subjects. Hormones, serum testosterone), C-reactive protein (CRP), International prostate symptom score (IPSS) and quality of life score (QOL). were compared between the two groups of subjects. Comparisons of measurement data between groups were statistically analyze by t test, expressed by mean ± standard deviation (Mean±SD); the correlation between body mass index and LUTS was analyzed by Spearman rank correlation, and the risk factors of LUTS and clinical variables were analyzed by univariate logistic regression. The significant variables were analyzed by multivariate logistic regression.@*Results@#There were significant statistical differences between experimental group and control group in terms of systolic blood pressure [(144.30±15.78) mmHg vs (125.9±66.11) mmHg, P<0.001], diastolic blood pressure [(89.46±12.76) mmHg vs (81.35±4.58) mmHg, P=0.001], and fasting blood glucose [(6.73±3.15) mmol/L vs (5.26±1.47) mmol/L, P=0.016], insulin [(26.60±19.09) mg/dL vs (13.43±7.68) mg/dL, P<0.001], C-peptide [(4.20±1.73) ng/mL vs (1.59±0.52) ng/mL, P=0.001], triglycerides [(2.42±1.88) mg/dL vs (1.45±0.79) mg/dL, P=0.007), estrogen [(52.32±21.77) ng/L vs (42.11±12.19) ng/L, P=0.023] and CRP [(6.49±4.96) mg/L vs (1.62±1.53) mg/L, P=0.037], but no statistical difference regarding high-density lipoprotein [(1.10±0.55) mg/dL vs (1.06±0.26) mg/dL, P=0.669] and serum testosterone [(275.00±100.68) ng/dL vs (280.28±85.52) ng/dL, P=0.823]. In addition, the experimental group had higher IPSS[(3.81±1.88) scores vs (0.69±0.30) scores, P<0.001] and QOL scores [(2.76±0.68) scores vs (0.12±0.08) scores, P<0.001] than the control group, and higher risk of LUTS [86.49% vs 42.31%, P<0.001], especially moderate LUTS ( 21.62% vs 0, P=0.011). Spearman rank correlation analysis showed that obesity (body mass index≥30 kg/m2) was significantly associated with moderate LUTS risk (r=0.407, P<0.001); Univariate logistic regression analysis showed that systolic blood pressure, insulin, and C-peptide were important risk factors of moderate LUTS in young obese patients (P=0.009, 0.029, 0.002). Systolic blood pressure and fasting C-peptide were independent risk factors by multivariate logistic regression analysis (P=0.011, 0.003).@*Conclusions@#The middle severity of LUTS was prevalent in young obese males, and systolic blood pressure and C-peptide were its significant independent risk factors.

Establishment and predictive efficiency of model for the effect and safety of endoscopic lithotripsy on pediatric upper urinary tract calculi / 中华泌尿外科杂志

Objective:To establish a predictive model that can predict the effectiveness and safety of endoscopic surgery for pediatric upper urinary tract calculi, and evaluate its diagnostic efficacy through internal validation.Methods:The data was selected from the prospective database of pediatric upper tract calculi constructed by Beijing Friendship Hospital Affiliated to Capital Medical University from June 2014 to April 2019. A total of 348 children were recruited in this investigation including 250 boys and 98 girls, with a median age of 3.0 years(Interquartile Range 1.4, 7.0 years). Totally 375 endoscopic surgeries were performed, with an overall stone free rate (SFR) of 88.0% (330/375) and complication rate (CR) of 23.2% (87/375). This research used univariate and multivariate logistic regression analysis to evaluate and screen the predictors of SFR and CR. The nomogram of SFR and CR was established by using the selected predictive factors. The differentiation degree of the model was evaluated by the area under the curve (AUC), the consistency between the prediction probability and the actual risk was evaluated by the calibration curve, and the clinical benefits of the model application were assessed by the decision curve.Results:The results of multivariate analysis demonstrated that stone burden, operation duration, intraoperative perfusion, stone location and operative options were the postoperative predictors of SFR and CR for children. Besides, BMI was also a predictor of postoperative CR. The AUC of the model (model 1: SFR; model 2: CR) based on the above predictive factors was 0.81 and 0.73, respectively. The predictive probability of the calibration curve showed that the model had a good consistency with the actual value. The decision curve showed that the application of model 1 to predict SFR had significant clinical benefits when the threshold value was greater than 20%, and the application of model 2 to predict the postoperative CR had a significant clinical benefit when the threshold was greater than 10%.Conclusions:Nomogram based on stone burden, operation time, intraoperative perfusion, stone location and operative options was validated internally with preferable predictive power on the effectiveness and safety of pediatric endoscopic surgery. This model can be used to predict the clinical effects of pediatric endoscopic lithotripsy. BMI was also an important factor for the safety of pediatric endoscopic procedures.

Epidemiological characteristics and associated risk factors of lower urinary tract symptoms in young obese males / 国际外科学杂志

Objective To investigate the epidemiological characteristics and its associated risk factors of lower urinary tract symptoms in young Chinese obese males.Methods A total of 126 young males aged 20-40 years admitted to Beijing Friendship Hospital,Capital Medical University were enrolled into two different groups in this study,including 74 obese patients visited metabolic weight loss clinic were included in the experimental group,and 52 conditionally healthy persons were included in the control group.Blood pressure (systolic blood pressure,diastolic blood pressure),insulin resistance (fasting blood glucose,insulin,C-peptide),blood lipid metabolism (triglycerides,high-density lipoprotein cholesterol),and sex hormones (estrogen) of the two groups of subjects.Hormones,serum testosterone),C-reactive protein (CRP),International prostate symptom score (IPSS) and quality of life score (QOL).were compared between the two groups of subjects.Comparisons of measurement data between groups were statistically analyze by t test,expressed by mean ± standard deviation (Mean ± SD);the correlation between body mass index and LUTS was analyzed by Spearman rank correlation,and the risk factors of LUTS and clinical variables were analyzed by univariate logistic regression.The significant variables were analyzed by multivariate logistic regression.Results There were significant statistical differences between experimental group and control group in terms of systolic blood pressure [(144.30 ± 15.78) mmHg vs (125.9 ±66.11) mmHg,P＜0.001],diastolic blood pressure [(89.46 ± 12.76) mmHg vs (81.35 ±4.58) mmHg,P =0.001],and fasting blood glucose [(6.73 ± 3.15) mmol/L vs (5.26 ± 1.47) mmol/L,P =0.016],insulin [(26.60 ± 19.09) mg/dLvs (13.43 ±7.68) mg/dL,P＜0.001],C-peptide [(4.20±1.73) ng/mL vs (1.59 ± 0.52) ng/mL,P=0.001],triglycerides [(2.42 ± 1.88) mg/dL vs (1.45 ± 0.79) mg/dL,P =0.007),estrogen [(52.32±21.77) ng/L vs (42.11 ± 12.19) ng/L,P =0.023] and CRP [(6.49±4.96) mg/L vs (1.62 ±1.53) mg/L,P =0.037],but no statistical difference regarding high-density lipoprotein [(1.10 ± 0.55) mg/dL vs (1.06 ±0.26) mg/dL,P =0.669] and serum testosterone [(275.00 ± 100.68) ng/dL vs (280.28 ± 85.52) ng/dL,P =0.823].In addition,the experimental group had higher IPSS [(3.81 ± 1.88)scores vs (0.69 ±0.30) scores,P ＜0.001] and QOL scores [(2.76 ±0.68) scores vs (0.12 ±0.08) scores,P＜0.001] than the control group,and higher risk of LUTS [86.49％ vs 42.31％,P ＜ 0.001],especially moderate LUTS (21.62％ vs 0,P =0.011).Spearman rank correlation analysis showed that obesity (body mass index≥30 kg/m2) was significantly associated with moderate LUTS risk (r =0.407,P ＜ 0.001);Univariate logistic regression analysis showed that systolic blood pressure,insulin,and C-peptide were important risk factors of moderate LUTS in young obese patients (P =0.009,0.029,0.002).Systolic blood pressure and fasting C-peptide were independent risk factors by multivariate logistic regression analysis (P =0.011,0.003).Conclusions The middle severity of LUTS was prevalent in young obese males,and systolic blood pressure and C-peptide were its significant independent risk factors.

Predictive value of combined application with multiple molecular markers in the prognosis of bladder urothelial carcinoma / 国际外科学杂志

Objective:Assessing the prognosis of patients with bladder urothelial carcinoma by using multiple molecular markers [epithelial-cadherin (E-cadherin), fibroblast growth factor receptor 3 (FGFR3), Jagged2, Survivin and stromal antigen 2 (STAG2)] in combination method, and compared it with the traditional method of evaluating prognosis by clinical pathological parameters.Methods:Retrospective analysis of 128 cases of bladder urothelial carcinoma patients admitted to Beijing Friendship Hospital, Capital Medical University from January 2010 to December 2016, including 102 males and 26 females; the median age was 70.5 years, ranged from 41 to 93 years. E-cadherin, FGFR3, Jagged2, Survivin and STAG2 alterations by immunohistochemistry during the first surgical treatment. The Kaplan-Meier survival curve was used to evaluate the relationship between the above markers and overall survival (OS), recurrence-free survival (RFS), progression-free survival (PFS), and clinicopathological indicators of tumors. Use Cox regression model to find the most suitable molecular markers for judging the prognosis of bladder urothelial carcinoma, and compare it with the traditional clinical staging + pathological grading method to evaluate OS to detect its sensitivity and specificity.Results:After 36.4 months of follow-up, it was found that the expressions of E-cadherin, FGFR3, Jagged2 and Survivin were all related to the OS, RFS and PFS of bladder urothelial carcinoma (all P<0.05). The expression of STAG2 was related to the TMN stage of bladder urothelial carcinoma ( P=0.047) and pathological grade ( P=0.015). Cox regression analysis showed that Survivin ( P=0.001) and Jagged2 ( P=0.037) were independent risk factors for evaluating the OS of bladder urothelial carcinoma, and Survivin ( P<0.001) and Jagged2 ( P=0.006) were independent risk factors for RFS, Survivin ( P=0.001) was also an independent risk factor for PFS. Multivariate analysis of the above molecular markers showed that the prognosis of patients with more than 3 molecular markers was better than that of independent application or the use of two of them to evaluate the prognosis ( P<0.001). The combined application of Survivin and Jagged2 to evaluate the 5-year survival rate was not less sensitive and specific than the clinical and pathological indicators (93.5% vs 77.2%, 84.7% vs 81.3%). Conclusions:Five molecular markers of E-cadherin, FGFR3, Jagged2, Survivin and STAG2 have an evaluation effect on the prognosis of bladder urothelial carcinoma, and some can independently predict the OS and RFS of patients with bladder urothelial carcinoma, however, the combined application is better than the single molecular marker to evaluate the prognosis. Compared with the traditional method of evaluating the prognosis by clinical pathological parameters, the combined application of Jagged2 and Survivin may be a better choice for evaluating the prognosis of patients with bladder urothelial carcinoma.

Monogenic nephrolithiasis / 中华实用儿科临床杂志

In recent years, multiple monogenic causes of nephrolithiasis have been identified.Monogenic nephrolithiasis can lead to renal calculus, nephrocalcinosis, extrarenal manifestations, renal insufficiency and renal failure.Advances in genetic testing techniques have improved the ability to obtain a definitive diagnosis of monogenic causes of kidney stone diseases efficiently and effectively.Similarly, advances in gene therapy technologies, especially gene editing, promise to change the way to treat patients with monogenic inherited nephrolithiasis.Now, the classification, cha-racteristics of genotype and phenotype, and the treatment of monogenic causes of nephrolithiasis were reviewed.

Effectiveness of vaginal high uterosacral ligament suspension for treatment of recurrent pelvic organ prolapse / 中华妇产科杂志

Objective To evaluate the indications and clinic outcomes of vaginal high uterosacral ligament suspension (HUS) for treatment of recurrent advanced pelvic organ prolapse (POP). Methods This retrospective study analyzed 42 women with recurrent advanced POP who were referred to Fourth Medical Center of PLA General Hospital and underwent transvaginal HUS between November 2005 and January 2018. Primary surgeries included 30 vaginal colporrhaphy, 5 Manchester operation, 5 transvaginal mesh repair,2 sacrospinous ligament fixation.The median time for recurrence from primary pelvic floor repair surgery was 9 months, including 14 cases (33%, 14/42)≤3 months (median time was 2 months) and 25 cases (67%, 28/42) longer than 3 months (median time was 18 months).The rate of recurrent prolapse in stageⅢorⅣ was 79% (33 cases), 45% (19 cases) and 17%(7 cases) in anterior, apical and posterior compartment respectively. Results Transvaginal high bilateral uterosacral ligaments were identified and used for successful vaginal vault suspension after vaginal hysterectomy and residual cervical resection in all 42 consecutive patients. The cases of transvaginal mesh used in anterior wall and posterior wall were 25 (60%, 25/42) and 3 (7%, 3/42) respectively. There was no major intra-and postoperative complications,such as ureter and other pelvic organ injury. The median time of follow-up was 5.3 years after transvaginal HUS. The points of pelvic organ prolapse quantification system reduced significantly and point C improved from+0.3 cm to-8.2 cm after reoperation (P<0.01). The objective cure rate were 100% (42/42) both in apex and posterior compartment,while 93% (39/42) in anterior compartment. None had reoperation or pessary usage for recurrence of prolapse. Conclusion Transvaginal HUS with vaginal wall repair could be as a safety, cost-effective, minimal traumatic and durable procedure for recurrent POP in the most of cases.

A five?year analysis of effect on transvaginal high uterosacral ligament suspension with or without native?tissue repair for middle compartment defect / 中华妇产科杂志

Objective To assess the five?year effect of the transvaginal high uterosacral ligament suspension (HUS) with or without additional concomitant native?tissue anterior and (or) posterior repair in women suffering from middle compartment defect. Methods A retrospective review of records identified 79 women who underwent transvaginal HUS with or without additional concomitant native?tissue anterior and (or) posterior repair from January 2007 to January 2018 in Fourth Medical Center, General Hospital of People′s Liberation Army. The middle compartment defects were predominant in these patients with point C no less than point Ba or Bp if accompanied with anterior or posterior vaginal wall prolapse. Follow?up visits were performed 2,6 and 12 months after surgery and then annually. Anatomic results of pelvic organ prolapse (POP) was established by pelvic examination using pelvic organ prolapse quantitation system (POP?Q) staging. Funtional results were obtained by patient global impression of improvement (PGI?I) scale in POP, pelvic floor distress inventory?short form 20 (PFDI?20) and pelvic floor impact questionnaire short form (PFIQ?7). Surgical success required the fulfillment of all 3 criteria: (1) anterior or posterior vaginal wall prolapsed leading edge of 0 cm or less and apex of 1/2 total vaginal length or less; (2) the absence of POP symptoms as reported on the PFDI?20 question No.3 ("Do you usually have a bulge or something falling out that you can see or feel in your vaginal area?"); and (3) no prolapse reoperations or pessary use during the study period. Results Of 79 women, 51(65%, 51/79) women completed the five?year follow?up during the study period. The median follow?up time was 5.2 years (2.8-8.3 years). The overall surgery success rate was 86% (44/51) according to above all 3 criteria. Prolapse recurrence rates were isolated anterior 8% (4/51), isolated apical 0, isolated posterior 2% (1/51) and multiple compartments 4% (2/51). Seven women (14%,7/51) developed anterior or posterior prolapse beyond the hymen with the leading edge≤1 cm. No apical prolapsed occurred. None of recurrent women underwent retreatment,including either surgery or pessary usage at last follow?up. The subjective satisfaction rate was 90% (46/51). There was a 1% (1/79) rate of intraoperative ureteral kinking and 3% (2/79) rate of postoperative morbidity. Conclusions The transvaginal HUS for middle compartment defect offers good long?term anatomical results with excellent vault suspension. With additional concomitant native?tissue anterior and (or) posterior repair, it will be a reconstructive surgery for the majority of moderate?to?severe POP. It is minimal traumatic and worthy of being popularized for clinical application.

Long-term effectiveness of transvaginal high uterosacral ligament suspension / 中华妇产科杂志

Objective To assess the long-term effectiveness of the transvaginal high uterosacral ligament suspension (HUS) in women suffering from advanced pelvic organ prolapse (POP).Methods A retrospective review of records identified 118 women who underwent transvaginal HUS with or without additional concomitant anterior and (or) posterior repairs from June 2003 to August 2009 in the First Affiliated Hospital,General Hospital of People's Liberation Army.Of 118 women,104 women completed the follow-up during study period;these 104 women were analysed.Follow-up visits were performed 2,6 and 12 months after surgery and then annually.Anatomic results of POP was established by pelvic examination using pelvic organ prolapse quantitation system (POP-Q) staging.Funtional results were obtained by patient global impression of improvement (PGI-I),pelvic floor distress inventory-short form 20 (PFDI-20) and pelvic floor impact questionnaire short form (PFIQ-7).Surgical success required the fulfillment of all 3 criteria:(1) prolapse leading edge of 0 cm or less and apex of 1/2 total vaginal length or less;(2) the absence of pelvic organ prolapse symptoms as reported on the PFDI-20 question No.3 (Do you usually have a bulge or something falling out that you can see or feel in your vaginal area?);and (3) no prolapse reoperations or pessary use during the study period.Results The mean follow-up time was (9.1 ± 1.5) years.The overall surgery success rate was 91.3％ (95/104) according to above all 3 criteria.Prolapse recurrence rates were isolated anterior 6.7％ (7/104),isolated apical 0,isolated posterior 2.9％ (3/104) and multiple compartments 1.0％ (1/104).Five women (4.8％,5/104) developed bothersome vaginal bulge symptoms.None of recurrent women underwent retreatment,including either surgery or use of a pessary at last follow-up.The subjective satisfaction rate was 90.4％ (94/104).PFDI-20 and PFIQ-7 scores showed a statistically significant improvement from preoperative 72 and 65 points to postoperative 17 and 9 points respectively (all P＜0.01).There was a 2.9％ (3/104) rate of intraoperative ureteral kinking and 3.8％ (4/104) rate of postoperative morbidity.Conclusions The transvaginal HUS for vault prolapse offers good long-term anatomical results with excellent vault suspension.With additional concomitant anterior and (or) posterior repairs,it will be a reconstructive surgery for the majority of advanced POP.It is minimal traumatic and appropriate for different type of POP,especially for the eldly patients.It is worthy of being popularized for clinical application.

Carriage of disinfectant resistance genes in clinically isolated Escherichia coli and minimal inhibitory concentration of five disinfectants / 中国感染控制杂志

Objective To understand the disinfectant resistance of clinically isolated Escherichia coli (E.coli)and carriage of disinfectant resistance genes.Methods Disinfectant resistance gene sugE (c ),sugE (p ),qacEΔ1 ,and qacE of 82 isolates of E.coli were detected with polymerase chain reaction (PCR),minimal inhibitory concentra-tions (MICs)were measured with agar dilution methods.Results Among 82 E.coli isolates,positive rates of dis-infectant resistance gene sugE (c ),sugE (p ),qacEΔ1 ,qacE,sugE (c )+qacEΔ1 ,and qacE+qacEΔ1 +sugE (c ) were 84.15% (n=69),1 .22% (n=1),76.83% (n=63),73.17 % (n=60),68.29% (n=56),and 59.76% (n=49)respectively.There was no significant differences in carriage status of four disinfectant resistance genes be-tween extended-spectrumβ-lactamases (ESBLs)-producing and non-ESBLs-producing strains,as well as cefepime sensitive and resistant strains (all P >0.05);MIC values of benzalkonium chloride,cetylpyridinium chloride,am-monium bromide,and triclosan for 82 isolates of E.coli were all > standard stain;MIC values of chlorhexidine for 32 isolates of E.coli were all > standard stain,for 50 other E.coli strains were all ≤ standard strain.There were no significant difference in MIC values of benzalkonium chloride,cetylpyridinium chloride,ammonium bromide,and triclosan between ESBLs-and non-ESBLs-producing strains,as well as cefepime sensitive and resistant strains(all P >0.05);while MIC values of chlorhexidine showed a significant difference (both P <0.05).Conclusion Detection rates of disinfectant resistance gene qacE,qacEΔ1 ,and sugE(c)in E.coli from clinical specimens are high,MICs of disinfectants such as benzalkonium chloride for E.coli are generally higher than standard strain.