Objective:To investigate the efficacy of color Doppler ultrasound-guided percutaneous nephrostomy in the treatment of anastomotic leakage after laparoscopic pyeloplasty.Methods:A retrospective analysis was performed for the data of 15 children with peritoneal irritation after LP who were admitted to the First Affiliated Hospital of Zhengzhou University from January 2018 to January 2023, of which 10 cases were anastomotic leaks and 5 cases were with renal pelvic blood clots. There were 12 males and 3 females. Age (4.2±2.7) years. The lesions were located on the left side of 11 cases and on the right side of 4 cases. All 15 cases had varying degrees of nausea, vomiting, abdominal pain and other symptoms. Physical examination: the children all showed painful faces and tense abdominal muscles. 15 patients had a preoperative pain score of 9.5 (8, 10). Ultrasound examination showed that the anterior and posterior diameters of renal pelvis separation were (34.93±4.86) mm, the anterior and posterior diameter/renal parenchymal thickness of renal pelvis separation was 15.66±1.02, renal dynamic nuclear imaging shows the renal function of the affected side was (29.69±1.71)%. Thirteen cases had the above symptoms before the abdominal drainage tube was removed, and the time of symptom onset was (3.3±1.1) days after surgery, of which 8 cases had a large increase in abdominal drainage, and color Doppler ultrasonography showed a large amount of fluid in the intra-abdominal intestinal space (about 500 ml). In 5 cases, the intraperitoneal drainage volume did not increase, and color Doppler ultrasonography showed strong echo in the renal pelvis, and blood clots were considered. All 13 patients were placed in the prone position under local anesthesia and underwent color Doppler ultrasound-guided percutaneous nephrostomy. The remaining 2 cases had abdominal drainage tube removed on the 3rd day after surgery, and peritoneal irritation signs appeared on the 4th and 6th days after surgery, respectively. Color Doppler ultrasonography showed that there was a large amount of fluid in the intra-abdominal intestinal space, and color Doppler ultrasound-guided peritoneal puncture and drainage + prone percutaneous nephrostomy was performed in the supine position under local anesthesia, and the biochemical analysis of the peritoneal puncture drainage fluid was confirmed to be anastomotic urine leakage. The drainage volume and urine output of 15 cases of peritoneal puncture drainage and pyelostomy were recorded, and the relief of nausea and vomiting symptoms and the score of postoperative pain after percutaneous nephrostomy were recorded. The changes of hydronephrosis and renal function before and after percutaneous nephrostomy were compared.Results:In this study, 15 patients underwent percutaneous nephrostomy with a duration of (16.8±1.9) min. The symptoms of nausea and vomiting disappeared after operation, and the pain scores were 3.2(2, 4) and 0.4(0, 2) at 2 h and 12 h after operation, respectively, which were statistically significant compared with those before operation ( P<0.01). In 13 children with simple percutaneous nephrostomy, the abdominal drainage tube was removed on (3.6±0.8) days and (8.6±1.0) days after percutaneous nephrostomy. In 2 children with peritoneal puncture and drainage plus percutaneous nephrostomy, the abdominal drainage tube was removed 3 days after the fistula operation, and the pyelostomy tube was removed 8 days after the fistula operation. The anterior and posterior diameters of renal pelvis separation were (10.87±4.05), (10.13±3.50) and (9.13±3.11) mm by color Doppler ultrasound at 3, 6 and 12 months after LP operation, respectively, and there were statistically significant differences compared with preoperative comparisons ( P<0.01).The diameter before and after renal pelvis separation was (7.60±2.86) mm, the diameter before and after renal pelvic separation/renal parenchymal thickness was 1.97±0.22, and the renal function was (39.23±2.66)% at 24 months after operation, which was statistically significant compared with that before operation ( P<0.01). Conclusions:Color Doppler ultrasound-guided percutaneous nephrostomy can effectively alleviate symptoms in the early stage, which could help to the healing of ureteral anastomosis, and has less trauma and short operation course.

Objective:To investigate the efficacy of robot-assisted laparoscopic surgery in heminephrectomy in children.Methods:The clinical data of 54 children with heminephrectomy in the First Affiliated Hospital of Zhengzhou University from January 2017 to December 2019 was analyzed retrospectively, of which 42 cases underwent laparoscopic heminephrectomy (LH group) and 12 cases underwent robot-assisted laparoscopic heminephrectomy (RALH group). In LH group, there were 17 males and 25 females, with an average age of (71.74±34.57)months, 29 on the left and 13 on the right. In RALH group, there were 4 males and 8 females, with an average age of (76.83±37.33) months, 9 on the left and 3 on the right. There was no significant difference in age, sex composition and deformity side between the two groups ( P > 0.05). The clinical indexes such as operation time, intraoperative blood loss, postoperative drainage time, hospital stay and postoperative complications were compared between the two groups. Results:There were significant differences in operation time[(196.48±21.92)min vs.(171.50±24.91)min], intraoperative blood loss[(34.14±8.63)ml vs.(18.50±5.92)ml], postoperative drainage time[6.0(5.0, 7.0)d vs. 4.5(3.0, 6.5)d] and postoperative hospital stay[(8.93±1.70)d vs.(7.33±1.37)d] between LH and RALH groups ( P < 0.05). During the follow-up from 3 months to 2 years, the lower kidneys of the two groups developed well and the symptoms before operation such as urinary tract infection, intermittent voiding leakage and dysuria caused by ureterocele were gradually relieved and disappeared after operation. In the LH group, 2 cases were complicated with the symptoms as ureteral stump effusion, cyst formation and recurrent ureteral stump infection after operation, which were cured after reoperation. There was no case of ureteral stump effusion and cyst formation in the RALH group. Conclusions:Robot-assisted laparoscopic heminephrectomy in children has shorter intraoperative blood loss, postoperative drainage time and hospital stay, lower incidence of postoperative complications, and has better efficacy and safety.

OBJECTIVE: To explore the genetic basis for 7 patients with Alström syndrome. METHODS: DNA was extracted from peripheral blood samples of the patients and their parents. Whole exome sequencing was carried out for the patients. Suspected variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: Genetic testing revealed 12 variants of the ALMS1 gene among the 7 patients, including 7 nonsense and 5 frameshift variants, which included c.5418delC (p.Tyr1807Thrfs*23), c.10549C>T (p.Gln3517*), c.9145dupC (p.Thr3049Asnfs*12), c.10819C>T (p.Arg3607*), c.5701_5704delGAGA (p.Glu1901Argfs*18), c.9154_9155delCT (p.Cys3053Serfs*9), c.9460delG (p.Val3154*), c.9379C>T (p.Gln3127*), c.12115C>T (p.Gln4039*), c.1468dupA (p.Thr490Asnfs*15), c.10825C>T (p.Arg3609*) and c.3902C>A (p.Ser1301*). Among these, c.9154_ 9155delCT, c.9460delG, c.9379C>T, and c.1468dupA were unreported previously. Based on the standards and guidelines of American College of Medical Genetics and Genomics, the c.9379C>T and c.12115C>T variants of the ALMS1 gene were predicted to be likely pathogenic (PVS1+PM2), whilst the other 10 variants were predicted to be pathogenic (PVS1+ PM2+ PP3+PP4). CONCLUSION ALMS1 variants probably underlay the Alström syndrome in the 7 patients, and genetic testing can provide a basis for the clinical diagnosis of this syndrome. The discovery of four novel variants has expanded the mutational spectrum of Alström syndrome.
Alstrom Syndrome/genetics* ; Cell Cycle Proteins/genetics* ; Humans ; Mutation ; Pedigree ; Whole Exome Sequencing

Objective:To evaluate the therapeutic characteristics of laparoscopic repair in children with ure-terovesical junction malformation through internal or external bladder.Methods:From February 2018 to August 2019, 29 cases of hydronephrosis combined with ureter expansion treated in the First Affiliated Hospital of Zhengzhou University, with 17 boys and 12 girls confirmed through the preoperative examinations.Inspection results revealed 15 cases of ureteropelvic junction obstruction, 12 cases of vesicoureteral reflux, and 2 cases of single ectopic ureter.Totally, 21 cases were treated by pneumovesical laparoscopic Cohen means, including 17 unilateral cases and 4 bilateral cases, 5 cases of ureterocele, and 8 cases of ureteral clipping.A total of 8 cases were treated by laparoscopic Lich -Gregoir surgical treatment, including 7 unilateral cases and 1 bilateral case.Meanwhile, 4 cases of ureteral clipping were performed among them.There was 1 case of duplex kidney with the ectopic upper ureter outside iliac blood vessels, 1 case of bilateral cryptorchidism and 1 case of unilateral cryptorchidism.Ureteral stents were implanted for those with ureteral tailoring.The catheters were removed 7 days after operation, and the indwelling ureteral stents were removed by cystoscope under general anesthesia after about 6 weeks.Results:All the cases with hydronephrosis and ureteral dilatation were completed in laparoscopic surgery, without open surgery or blood transfusion, 21 cases were treated by pneumovesical laparoscopic Cohen means, with the average time being 1.8 hours in unilateral side and 2.8 hours in bilateral sides.At the same time, 8 cases were treated by laparoscopic Lich-Gregoir means, with the unilateral average time being 1.7 hours and bilateral time being 3.0 hours.All cases were followed up at an average month of 9 (4-20 months), and all children underwent voiding cystourethrography 4 months after the operations.The voiding cystourethrogram(VCUG) of all the cases was confirmed successfully, with only 1 case of vesicoureteral reflux in level Ⅲ, and their hydronephrosis were relieved.There was no vesicoureteral reflux in the others.The short-term urinary retention occurred in 1 patient with bilateral ureteral reimplantation in Lich-Gregoir group, and the symptom disappeared after 1 week of indwelling catheterization.Among them, 1 patient in Cohen group had hematuria that disappeared gradually for 4 days after surgery.There were no significant differences in operation time and postoperative recovery between the two groups.The length of hospital stay in laparoscopic Lich -Gregoir group was slightly longer than that in pneumovesical laparoscopic Cohen group.Conclusions:As for children with ureterovesical junction malformation, laparoscopic Lich-Gregoir surgery is suitable for the ectopia of ureter opening, overexpansion of ureter, and other abdominal malformation complicated and expansive ureter without tortuosity.Pneumovesical laparoscopic Cohen surgery is suitable for hydronephrosis and ureteral expansion with ureterocele, especially with the symptom of dysuria, and ureteral tortuosity obviously.The two ways are safe and reliable, and the advantages and disadvantages should be weighed before being chosen.

Objective:To analyze the clinical characteristics, cerebrospinal fluid (CSF) and other auxiliary examination results of febrile children with convulsions in order to provide the evidence for clinical recognition of central nervous system (CNS) infection and its etiology.Methods:The clinical data of 64 fever patients with convulsions admitted at the Department of Neurology, Shanghai Children′s Medical Center, Shanghai Jiaotong University School of Medicine were analyzed retrospectively.According to the results of the routine biochemical examination of CSF, they were divided into 2 groups as CSF normal group (44/64 cases, 69%) and CSF abnormal group (20/64 cases, 31%). Their age, gender, clinical manifestations, physical symptoms and auxiliary examination results were compared between the two groups. Logistic regression analysis was performed to explore the independent risk factors of abnormal CSF results.Twenty children with abnormal CSF results were divided into the normal glucose group (12/20 cases, 60%) and the glucose reduction group (8/20 cases, 40%) according to the glucose level of CSF.The fever duration, serum inflammation markers, CSF routine and biochemical indexes of the two groups were compared. Results:According to Logistic multivariate unconditional regression analysis, the mental state change ( OR=435.99, P=0.010), abnormal neurological signs ( OR=65.25, P=0.023) and vomiting ( OR=20.56, P=0.048) were the high risk factors of abnormal CSF results.Among the children with abnormal CSF results, in the glucose reduction and normal glucose groups, the fever duration was 12.50 (7.75-16.75) d and 4.00 (3.00-5.75) d, respectively; the level of CSF protein were 3 000 (1 745-3 000) mg/L and 648 (469-1 734) mg/L, respectively; the erythrocyte sedimentation rate (ESR) was 71.50(56.00-97.50) mm/1 h and 20.50 (12.00-26.00) mm/1 h, respectively; the procalcitonin level was 2.76(0.90-20.72) g/L and 0.23 (0.03-1.00) g/L, respectively; the C-reactive protein (CRP) level was 123.00 (33.00-177.75) mg/L and 12.50(4.25-57.75) mg/L, respectively.The fever duration, CSF protein level, ESR, procalcitonin level and CRP level were statistically different between the glucose reduction and normal glucose groups (all P<0.05). Conclusions:In fever children with convulsions, vomiting, the mental state change, and abnormal neurological signs are the high risk factors of abnormal CSF results, suggesting the possibility of CNS infections and the need of early diagnosis by CSF and other auxiliary examinations.In addition, a low level of CSF glucose in children with abnormal CSF results may be a potential and powerful clue for purulent meningitis.Timely etiological tests are required for confirmation, and antibiotics treatments should be applied as early as possible.

Objective:To investigate the clinical features of Herpes simplex virus encephalitis(HSE) with cerebral hematoma as the prominent manifestation and the significanc of metagenomic next-generation sequencing (mNGS) in the diagnosis of HSE.Methods:The clinical manifestations, diagnostic process, clinical treatment and prognosis of a case of HSE with cerebral hematoma as the prominent manifestation at Shanghai Children′s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine in June 2019 were retrospectively analyzed.The relevant literatures were also searched and reviewed.Results:A 4-year-old boy presented with slight fever, headache, convulsion and vomiting was considered to have intracranial space-occupying lesions and possible intratumoral hemorrhage after undergoing imaging examination at a local hospital.The patient was checked by head CT in Shanghai Children′s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, which showed that there were many bleeding foci in the brain, indicating the possibility of complications of blood system diseases.Therefor the child was given the examination of blood routine and coagulation routine, but the results were normal, the bone marrow cytology was negative, the cerebrospinal fluid(CSF) of lumbar puncture was biochemically normal, and mNGS were 8×10 6/L.Besides, CSF smear, culture and next-generation sequencing were negative, the autoimmune encephalitis CSF testing was negative, and brain biopsy suggested inflammation.The mNGS brain tissue showed herpes simplex virus 1 was positive in two specimens, confirming the diagnosis of HSE.After 3 weeks of antiviral treatment with Aciclovir, the child′s condition improved.After a 5-month follow-up, the patient had quadriplegia and only had activities such as blinking and swallowing. Conclusions:When the intracerebral hemorrhage such as hematoma caused by encephalitis clinically can not be ruled out, the possibility of HSE should be considered, and mNGS is helpful for identifying the central ner-vous system pathogen.

Objective:To evaluate the efficacy and safety of vacuum sealing drainage(VSD)and moist healing technology in the treatment of hypospadias of children.Methods:From January 2015 to January 2017, 80 cases of children with proximal hypospadias and moderate or severe penile curvature from 1.5 years to 12 years old who received hypospadias operation were assigned into the study group(SG)( n=40)and control group(CG)( n=40), based on simple randomization. 80 cases of children were done operation included correcting the penile curvature and urethroplasty(Duckett urethroplasty)by one surgeon, all of them were received the procedure covered the urethra by scrotal septum tissue. The cases of SG were installed VSD after covered soft polysilicone wound dressing (merlot), who underwent treatment of slowly flushing by saline solution(liquid drop, 7 drops/min)and attracting by negative pressure(negative pressure range, from -30 kpa to -20 kpa)for 7 days. The cases of CG were bound up the penis with merlot, gauze and self-adhesive elastic bandage for 7 days. All cases of two group were sterilize by iodophor after opening dressing, smeared erythromycin ointment and applied hydropathic compress by wet gauze to help blood scab accelerate to drop, when blood scab appeared. All cases were conventionally reserved with F8 catheter for 1 month. The standard of successful operation was that there was no complication, included urethral fistula, urethral stenosis, urethral dehiscence, urethrocele and dysuresia. Results:The children of SG were found to be well tolerated to VSD, there was no adverse reaction to VSD. 7 days after operation, incidence of blood scab(20%, 8/40)and rate of under-scab infection of SG(12.5%, 5/40) were lower than CG[42.5%(17/40), 32.5%(13/40)], the differences were statistically significant( χ2=4.713, P=0.030; χ2=4.588, P=0.032). 1 month postoperation, urethral fistula 5 cases, urethral stenosis 1 case were found in SG, otherwise CG complications included urethral fistula 9 cases, urethral dehiscence 1 case and urethral stenosis 1 case. The success rate of surgery of SG was higher than CG[85(34/40) vs 72.5%(29/40)%]. Conclusions:Applying VSD continuously slowly flushing and extracting by negative pressure to hypospadias treatment is effective and safe, which could effectively reduce the blood scab formation and the rate of under-scab infection, which can increase the success rate of hypospadias surgery.

Objective:To evaluate the efficacy and safety of vacuum sealing drainage(VSD)and moist healing technology in the treatment of hypospadias of children.Methods:From January 2015 to January 2017, 80 cases of children with proximal hypospadias and moderate or severe penile curvature from 1.5 years to 12 years old who received hypospadias operation were assigned into the study group(SG)( n=40)and control group(CG)( n=40), based on simple randomization. 80 cases of children were done operation included correcting the penile curvature and urethroplasty(Duckett urethroplasty)by one surgeon, all of them were received the procedure covered the urethra by scrotal septum tissue. The cases of SG were installed VSD after covered soft polysilicone wound dressing (merlot), who underwent treatment of slowly flushing by saline solution(liquid drop, 7 drops/min)and attracting by negative pressure(negative pressure range, from -30 kpa to -20 kpa)for 7 days. The cases of CG were bound up the penis with merlot, gauze and self-adhesive elastic bandage for 7 days. All cases of two group were sterilize by iodophor after opening dressing, smeared erythromycin ointment and applied hydropathic compress by wet gauze to help blood scab accelerate to drop, when blood scab appeared. All cases were conventionally reserved with F8 catheter for 1 month. The standard of successful operation was that there was no complication, included urethral fistula, urethral stenosis, urethral dehiscence, urethrocele and dysuresia. Results:The children of SG were found to be well tolerated to VSD, there was no adverse reaction to VSD. 7 days after operation, incidence of blood scab(20%, 8/40)and rate of under-scab infection of SG(12.5%, 5/40) were lower than CG[42.5%(17/40), 32.5%(13/40)], the differences were statistically significant( χ2=4.713, P=0.030; χ2=4.588, P=0.032). 1 month postoperation, urethral fistula 5 cases, urethral stenosis 1 case were found in SG, otherwise CG complications included urethral fistula 9 cases, urethral dehiscence 1 case and urethral stenosis 1 case. The success rate of surgery of SG was higher than CG[85(34/40) vs 72.5%(29/40)%]. Conclusions:Applying VSD continuously slowly flushing and extracting by negative pressure to hypospadias treatment is effective and safe, which could effectively reduce the blood scab formation and the rate of under-scab infection, which can increase the success rate of hypospadias surgery.

Objective To summarize the efficacy and adverse reactions of incremental corticotrophin (ACTH) therapy in the treatment of infantile spasms (IS),and to provide new clinical treatment options.Methods The clinical data of 40 children with IS who were hospitalized in the Department of Neurology,Shanghai Children's Medical Center,Shanghai Jiaotong University School of Medicine,treated with ACTH from January 2016 to January 2018 were collected and retrospectively analyzed.All the children were treated with intravenous infusion of ACTH with an initial dose 12.5 U/d for 3 days.If the spasms did not disappear,dosage of ACTH increased to 25.0 U/d for another 3 days.If the spasms could not yet be fully controlled,the dosage increased to 40.0 U/d,and the total course of treatment did not exceed 2 weeks.If the spasms disappeared at each dose stage or the course of treatment reached to 2 weeks,ACTH would be changed to Prednisone 2 mg/(kg · d) orally,which gradually decreased in 2 months.All children underwent electroencephalogram examination before and after treatment.Results Forty patients with IS were treated with ACTH increasing therapy.The disappearance rate of spasms was 40.0％ (16/40 cases) totally,with 7.5％ (3/40 cases) at the dosage phase of 12.5 U/d,16.2％ (6/37 cases) at the dosage stage of 25.0 U/d,and 22.6％ (7/31 cases) at the dosage of 40.0 U/d.The disappearance rate of hypsarrhythmia on electroencephalogram was 60.0％ (24/40 cases) generally,and 5.0％ (2/40 cases),10.8％ (4/37 cases),58.1％ (18/31 cases),respectively at above different dosage phases,while 37.5％ (15/40 cases) of the children had mild adverse reactions,mostly respiratory infections.Conclusions The short-term efficacy of the ACTH incremental therapy in the treatment of IS is positive,and the incidence of adverse reactions is low.

Objective: To explore the treatment effect of pedicled myocutaneous island flap of anterolateral thigh muscle on the suprapubic defect caused by bladder exstrophy in children. Methods: The clinical data of 3 adolescents with bladder exstrophy were analyzed. All 3 cases underwent one-stage Kelly procedure and received the treatment using pedicled myocutaneous island flap of anterolateral thigh muscle to repair the suprapubic defect. The bladder expansion was performed with ileal sarcoplasmic layer graft, and the Cohen ureteral reimplantation was performed as well, for 1 case 1, 1 year after the first operation. The others 2 patients didn′t receive the second operation. Results: All operations were successful. The femoral donor regions were directly closed. Postoperative follow-up period was 1-7 years. The myocutaneous island flaps were survived and grew well. All incisions of the femoral donor region were primary healing without scar hypertrophy. Urinary continence was achieved in 2 cases, and partially achieved in 1 case. Recurrent urinary tract infection, recurrent fever or abdominal pain were not observed in all patients. Conclusions The pedicled anterolateral thigh myocutaneous island flap is an alternative way to repair suprapubic defect caused by bladder exstrophy.