Renal calculus is a common disease with complex etiology and high recurrence rate. Recent studies have revealed that gene mutations may lead to metabolic defects which are associated with the formation of renal calculus, and single gene mutation is involved in relative high proportion of renal calculus. Gene mutations cause changes in enzyme function, metabolic pathway, ion transport, and receptor sensitivity, causing defects in oxalic acid metabolism, cystine metabolism, calcium ion metabolism, or purine metabolism, which may lead to the formation of renal calculus. The hereditary conditions associated with renal calculus include primary hyperoxaluria, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, Bartter syndrome, primary distal renal tubular acidosis, infant hypercalcemia, hereditary hypophosphatemic rickets with hypercalciuria, adenine phosphoribosyltransferase deficiency, hypoxanthine-guanine phosphoribosyltransferase deficiency, and hereditary xanthinuria. This article reviews the research progress on renal calculus associated with inborn error of metabolism, to provide reference for early screening, diagnosis, treatment, prevention and recurrence of renal calculus.
Infant ; Humans ; Hypercalciuria/genetics* ; Kidney Calculi/genetics* ; Urolithiasis/genetics* ; Nephrocalcinosis/genetics* ; Metabolism, Inborn Errors/genetics*

Objective:To study the feasibility and efficacy of the modified posterolateral laparoscopic approach for resection of massive splenomegaly.Methods:The data of 48 patients who underwent laparoscopic splenectomy for massive splenomegaly at the Affiliated Hospital of Jiangnan University (Wuxi 4th People's Hospital) from January 2016 to July 2019 were retrospectively analyzed. There were 29 males and 19 females, with an average age of 55.8 years. These 48 patients were divided into two groups according to the operative approach, the study group ( n=26) using the modified posterolateral approach which treated the splenic pedicle as the last step; and the control group ( n=22) which used the posterior tunnel of splenic pedicle established by anterior approach to treat the splenic pedicle first. The operation time, gastrointestinal function, recovery time, intraoperative blood loss, rates of conversion to laparotomy and postoperative complications were compared between two groups. The follow-up data were also analyzed. Results:There were no significant differences in operation gastrointestinal function recovery and hospitalization time between the two groups (all P>0.05). The intraoperative blood loss, numbers of patients with convention to open surgery and intraoperative blood transfusion, were (50.2±15.1) ml vs (160.1±40.3) ml, 2 patients (7.7%) vs 7 patients (31.8%), and 1 patients (3.8%) vs 5 patients (22.7%), in study group and control group respectively. The differences between groups were significant (all P<0.05). The complications of the study group and control group were 9 patients (34.6%) vs 13 patients (59.1%), which were significantly in the two groups ( P<0.05). On follow-up which ranged from 1 to 15 months, the numbers of patients with thrombocytosis and portal vein thrombosis in the study group and the control group were 20 patients (76.9%) vs 17 patients (77.3%), and 7 patients (26.9%) vs 6 patients (27.3%), respectively. Conclusion:The modified posterolateral laparoscopic approach for resection of massive splenomegaly was safe and feasible. It should be promoted to treat massive splenomegaly.

This paper reports a rare clinical case of 46 X, i(X)(q10)TS in a female patient with horseshoe kidney and right duplication kidney with renal pelvic and ureteral junction stenosis and double kidney cysts, secondary to right renal calculi and hydronephrosis. After open surgical treatment, the curative effect was definite, which effectively relieved the stenosis at the junction of the renal pelvis and ureter and relieved the clinical symptoms of the patient. The patient was followed up for 3 months and recovered well. When TS is combined with horseshoe kidney with UPJO, open pyeloplasty with partial isthmus and renal fixation are still classic surgical procedures.

Motor timing is an important part of sensorimotor control. Previous studies have shown that beta oscillations embody the process of temporal perception in explicit timing tasks. In contrast, studies focusing on beta oscillations in implicit timing tasks are lacking. In this study, we set up an implicit motor timing task and found a modulation pattern of beta oscillations with temporal perception during movement preparation. We trained two macaques in a repetitive visually-guided reach-to-grasp task with different holding intervals. Spikes and local field potentials were recorded from microelectrode arrays in the primary motor cortex, primary somatosensory cortex, and posterior parietal cortex. We analyzed the association between beta oscillations and temporal interval in fixed-duration experiments (500 ms as the Short Group and 1500 ms as the Long Group) and random-duration experiments (500 ms to 1500 ms). The results showed that the peak beta frequencies in both experiments ranged from 15 Hz to 25 Hz. The beta power was higher during the hold period than the movement (reach and grasp) period. Further, in the fixed-duration experiments, the mean power as well as the maximum rate of change of beta power in the first 300 ms were higher in the Short Group than in the Long Group when aligned with the Center Hit event. In contrast, in the random-duration experiments, the corresponding values showed no statistical differences among groups. The peak latency of beta power was shorter in the Short Group than in the Long Group in the fixed-duration experiments, while no consistent modulation pattern was found in the random-duration experiments. These results indicate that beta oscillations can modulate with temporal interval in their power mode. The synchronization period of beta power could reflect the cognitive set maintaining working memory of the temporal structure and attention.

Objective To investigate the diagnostic and clinical significance of computerized tomography (CT) attenuation values (hounsfield unit,HU) in hydronephrosis with infection.Methods One hundred and eighty-five cases of upper urinary tract calculi with hydronephrosis from June 2014 to June 2016 were retrospectively analyzed.There were 82 males and 103 females with a mean age of (52.3 ± 13.1)years old,ranging 18-80 years old.58 cases suffered hydronephrosis without infection,55 cases suffered acute pyelonephritis and 72 cases suffered pyonephrosis.The CT attenuation values of the renal pelvis urine in three groups were measured.Results The CT attenuation value of hydronephrosis without infection group was (5.61 ± 3.67) HU,95 ％ CI(4.64-6.57) H U.In acute pyelonephritis group,CT attenuation value was (8.35 ± 5.63) HU,95％ CI(6.83-9.87) HU.In pyonephrosis group,the CT attenuation value was (13.92 ± 6.21) HU,95％ CI (12.46-5.38) HU.The CT attenuation value of pyelonephritis compared with that of hydronephrosis without infection was significant different.(P ＜ 0.01).The CT attenuation value of the patients with pyonephrosis was significantly higher than that of patients without infection and with pyelonephritis (P ＜ 0.01).Conclusions The CT attenuation value of renal pelvis urine can predict intrarenal infection.Furthermore,The measurement of CT attenuation value has some clinical significance in preoperative evaluation of hydronephrosis with infection.

Objective To compare the efficacy of surgical drainage versus repair in the treatment of iatrogenic injury of the distal common bile duct detected during operation,and to evaluate the effect of gastrobiliary duct drainage.Methods Patients with iatrogenic choledochal injury were divided into two groups:the drainage group (n =17) and the repair group (n =7).Data on the amounts of postoperative biliary and abdominal cavity drainage,gastrointestinal function recovery,the duration of biliary drainage and hospitalization were compared.Results When compared with the repair group,there were no significant differences in the amounts of postoperative biliary drainage [(310.0± 112.0) vs.(264.0± 144.0) ml] and abdominal cavity drainage [(42.0±25.0) ml vs.(125.0± 195.0) ml)] (both P＞0.05).However,gastrointestinal function recovery [(3.0±1.5)d vs.(4.7±2.0)d],durations of biliary drainage [(7.5±1.0)d vs.(12.7±5.4)d] and hospitalization [(9.5±1.5)d vs.(15.1±5.6)d] of the drainage group were significantly shorter than the repair group (P＜ 0.05).No biliary strictures of cholangitis were detected in the two groups.Conclusion When compared with traditional repair,gastrobiliary drainage was a simpler,safer,and more effective therapeutic strategy for patients with iatrogenic distal common bile duct injury,and with a quicker recovery after treatment.

Objective To evaluate gastrobiliary duct drainage in the treatment for iatrogenic distal common bile duct injury found during the operation.Methods We analyzed clinical data of 17 cases with application of gastrobiliary duct drainage in immediate treatment for the injury of distal common bile duct found during the operation from June 2010 to June 2016.Postoperative bile drainage,postoperative gastrointestinal function recovery,time for removal of the gastrobiliary duct and hospitalization time were recorded.Postoperative bile leakage,intestinal fistula and pancreatic leakage were observed.Patients were followed up until June 2016.Results The mean volume of bile drainage on the third postoperative day were (310 ± 112)ml,the mean time of postoperative gastrointestinal function recovery were (3.0 ± 1.5) days,time for removal of the gastrobiliary stent were (7.5 ± 1.0) days and hospitalization time were (9.5 ± 1.5) days.There was no postoperative bile leakage,intestinal fistula and pancreatic leakage.All patients were followed up for a median time of 12 months (range,1-45 months).Meanwhile,we found no significant biliary strictures and cholangitis patients.Conclusion Gastrobiliary duct drainage is a simple,rational and effective treatment for iatrogenic injury of distal common bile duct during common bile duct exploration.

Objective To study the effectiveness of different treatment modalities for iatrogenic injury of distal common bile duct during operation.Methods We browsed Chinese Medical Full-text Data-base with the term of “distal common bile duct injury”.All the clinical studies associated with perioperative latrogenic injury of distal common bile duct and adjacent tissue published after 1990 were enrolled,and we collected the clinical data,mortality and reoperation rate with different treatments for analysis.Results Thirty-four case series and case reports with 233 patients were included.14 patients with isolated duodenal injury were excluded.The overall mortality of the remaining 219 patients was 9.6％,and the reoperation rate was 17.4％.A total of 145 patients who were diagnosed with distal common bile duct injury during and after operation from 21 articles were compared.The mortality and reoperation rate were both 1.9％ among 106 patients who were diagnosed during operation.The figures were 43.6％,and 84.6％ among 39 patients who were diagnosed after operation,respectively.In 9 articles with 46 patients,the clinical outcomes of 21 patients who were treated by intraoperative suture was compared with 25 patients who underwent enhanced biliary and retroperitoneal drainage.The mortality and reoperation rates were 0 in both groups.Conclusions Early detection and management are crucial to perioperative common bile duct injury.Furthermore,no significant difference of clinical outcomes observed between bile drainage and perforation suture groups.

Objective To study binocular rivalry (BR)objectively and the correlation between fusiform face area (FFA)and visual cortex.Methods Six subjects participated in this study,with one eye presented a normal face expres-sion picture flickered at 8.57 Hz,while the other presented a fearful face flickered at 12 Hz or 15 Hz,respectively.Electro-encephalogram(EEG)was recorded during this process.Steady state visual evoked potential(SSVEP)evoked by two flick-ering rates was analyzed by time-frequency analysis of short time fourier transformation(STFT).The time index of BR was estimated and the correlation coefficient between FFA and visual cortex compared.Results The total average time was (411.6 ±73.8)ms for the left eye and (547.6 ±126.7)ms for the right eye.The switch rate of the two groups was not different,but the left FFA was more sensitive than the right FFA in process of the fearful face.Neither side of FFA had any frequency preference to the flickered fearful face.Conclusion SSVEP can be used as a frequency tag of BR or as a tool to evaluate visual sensation under BR objectively.SSVEP combined with BR can be used in research of neural mechanisms of visual awareness.

Objective To evaluate the feasibility and safety of a delivery pathway for the performance of percutaneous left atrial appendage (LAA) occlusion in experimental canine models. Methods Transseptal puncture was performed via femoral vein approach under fluoroscopic and angiographic guidance in 12 experimental dogs. A pigtail catheter was advanced into the left atrium (LA), which was followed by LA angiography. The diameters of the neck of LAA were measured on LAA angiogram obtained in appropriate projection. After the delivery sheath was advanced along the wire into LA, a pigtail catheter was inserted into the ostium of the LAA and the sheath was then advanced over the pigtail into the LAA. LAA angiography was then performed through the delivery sheath to confirm the position of the delivery sheath. One hour after the procedure both electrocardiography (ECG) and transthoracic echocardiography (TTE) were carried out in five dogs to check the results, immediately after which the five dogs were sacrificed to macroscopically observe the damages of the puncture site of inter-atrial septum as well as inside the LA and LAA. One hour and 2 weeks after the procedure TTE was conducted in the remaining 7 dogs and these dogs were followed up for one month. Results One dog died of pericardial tamponade during the operation. In 8 dogs the LAA was clearly displayed in the projection position of right anterior oblique (RAO) 30°/cranial (CRA) 20°,while in 3 dogs the LAA was well visualized in the projection position of RAO 30° , and in one dog in the projection position of RAO 30°/caudal (CAU) 20°. The diameter of LAA neck was (13.6 ± 5.2) mm. The delivery sheath was safely advanced into the LAA along the pigtail catheter in all dogs, and no air embolism, thrombus or pericardial tamponade occurred. Hematoma at puncture point of groin occurred in 2 dogs, which was absorbed through pressure dressing. Macroscopic examination of the heart performed immediately after the operation showed that no bloody pericardial effusion was found, and mild hematoma at posterior wall of LA was seen in one dog and mild damage of the upper-margin intima of LAA was noted in 2 dogs. The mean fluoroscopy time was (10.1 ± 2.5) minutes and the mean operation time was (58 ± 12) minutes. TEE showed no pericardial effusion 2 weeks after the procedure. During the follow-up period of one month no sudden death, stroke or infection occurred. Conclusion This method of placing the delivery sheath into the LAA is clinically safe and effective, and it can reliably establish a pathway to advance the LAA occluder into LAA.