Objective:To analyze and summarize the clinical, genotypic and pathological characteristics of children with PAX2 gene mutation in China, and to provide information for the monitoring, treatment and prognosis of the disease. Methods:It was a case series analysis study. The clinical data of children with PAX2 gene mutation in Pediatric Nephrology Department, Tongji Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology from January 2014 to December 2022 were collected, and peripheral blood gene DNA was extracted and sequenced for whole exome sequencing. The clinical, pathological and genotypic characteristics of PAX2 gene variation of children in China were summarized by searching PubMed, Medline, China National Knowledge Infrastructure and Wanfang database and compared with the cases in this single center. Results:Among the 13 children with PAX2 gene mutation, there were 9 males and 4 females, 12 patients with abnormal urine tests, 7 patients with small kidney volume by imaging examination, and 5 patients with renal cysts. The clinical phenotypes were congenital renal and urinary tract malformations in 8 cases, renal coloboma syndrome in 1 case, and hematuria or proteinuria in 3 cases. Five patients underwent renal biopsies, showing focal segmental glomerulosclerosis and C3 glomerulopathy in 1 case, focal segmental glomerulosclerosis in 1 case, thin basement membrane lesion in 1 case, and IgA nephropathy in 2 cases. The genetic testing in 13 children showed 9 de novo mutations and 4 new mutations of c.321G>A, c.213-8C>G, c.63C>A and c.449C>T. There were 2 cases of 76dupG (p.V26Gfs*28) mutant. A total of 51 Chinese children with PAX2 gene mutation were found in the literature search. There were 32 males and 19 females, 8 cases with small kidney volume and 12 cases with renal cysts. The clinical phenotypes were congenital anomalies of kidney and urinary tract in 28 cases, renal coloboma syndrome in 17 cases, and hematuria or proteinuria in 6 cases. Seven patients underwent renal biopsies, including 2 cases with focal segmental glomerulosclerosis, 1 case with minimal lesion, 1 case with mesangial proliferative glomerulonephritis, 1 case with IgA nephropathy, 1 case with membranous nephropathy and a case with focal proliferative sclerosing purpura nephritis combined with glomerular hypertrophy. Thirty-four cases were de novo mutations, and 12 mutations were from the father or mother. The father or mother of 5 children had no clinical manifestations, with normal renal function. There were 11 cases of 76dupG (p.V26Gfs*28) mutant. Conclusions:The clinical phenotypes and genotypes of PAX2 gene variation in Chinese children are diverse. The most common clinical phenotype of PAX2 gene variation is congenital anomalies of kidney and urinary tract. c.76dupG (p.V26Gfs*28) is the most common of PAX2 gene variant.

Objective:To investigate the prognosis and risk factors of IgA vasculitis nephritis (IgAVN) in children.Methods:A retrospective cohort study was conducted. Clinical data were collected from 264 children who were pathologically diagnosed with IgAVN at Department of Pediatric Nephrology, Tongji Hospital, affiliated with Tongji Medical College, Huazhong University of Science and Technology, between January 2011 and December 2017. All patients had a follow-up period of more than 3 years. Clinical characteristics, renal pathology, 3-year and 5-year prognosis were analyzed. The patients were grouped based on gender, age of onset (≤6 years, >6-9 years, and >9 years), pathological classification (≤Ⅲ and>Ⅲ),whether the prognosis was complete remission at 3 and 5 years. Independent sample t-tests, ANOVA or chi-squared test were used for intergroup comparisons. Spearman correlation analysis was applied for ordinal data, and multivariate Logistic regression was used to analyze factors affecting the prognosis. Receiver operating characteristic (ROC) curve was utilized to evaluate the predictive value of these factors. Results:Of the 264 children with IgAVN, 153 were male and 111 were female, the age of onset was 8.3 (6.7, 10.3) years, 118 patients (45%) with onset age >6-9 years accounted for the highest proportion. All patients presented with skin purpura and renal involvement, primarily manifesting as hematuria and/or proteinuria. Microscopic hematuria was observed in 253 patients (95.8%), while 246 patients (93.2%) showed proteinuria. In 256 patients (97.0%), hematuria or proteinuria urinalysis was detected within 6 months of skin purpura onset, and 243 patients (92.0%) underwent renal biopsy within 6 months of renal involvement. The most common clinical subtype in 264 IgAVN children was hematuria and proteinuria (204 cases, 77.3%), with grade Ⅲ being the predominant pathological classification (181 cases, 68.6%). Among children ≤6 years old, the 3-year complete remission rate was higher in males than in females (83.9% (26/31) vs. 7/16, χ2=8.12, P=0.012). Factors independently associated with poor 5-year prognosis included time from hematuria or proteinuria urinalysis to renal biopsy >6 months, elevated serum cholesterol levels, and incomplete remission 3 years post-biopsy ( OR=5.41, 1.39, 6.02, 95% CI 1.40-20.86, 1.04-1.84, 2.61-13.88, all P<0.05). The serum cholesterol has a predictive value for 5-year prognosis ( P=0.020, AUC=0.62, 95% CI 0.52-0.71, Youden index=0.27, cutoff=4.37). Conclusions:For children with IgAVN aged≤6 years, the 3-year prognosis is better in males than in females. Time from hematuria or proteinuria urinalysis to renal biopsy >6 months, elevated serum cholesterol levels, and incomplete remission at 3 years post-biopsy may be independent risk factors for poor 5-year prognosis in children with IgAVN.

BACKGROUND: The clinical importance of hypokalemia is likely underrecognized in Chinese dialysis patients, and whether its clinical effect was mediated by serum albumin is not fully elucidated. This study aimed to explore the association between serum potassium and mortality in dialysis patients of a Chinese nationwide multicenter cohort, taking albumin as a consideration. METHODS: This was a prospective nation-wide multicenter cohort study. Restricted cubic splines were used to test the linearity of serum potassium and relationships with all-cause (AC) and cardiovascular (CV) mortality and a subsequent two-line piecewise linear model was fitted to approach the nadir. A mediation analysis was performed to examine relations of albumin to potassium and mortalities. RESULTS: A total of 10,027 patients were included, of whom 6605 were peritoneal dialysis and 3422 were hemodialysis patients. In the overall population, the mean age was 51.7 ± 14.8 years, 55.3%(5546/10,027) were male, and the median dialysis vintage was 13.60 (4.70, 39.70) months. Baseline serum potassium was 4.30 ± 0.88 mmol/L. After a median follow-up period of 26.87 (14.77, 41.50) months, a U-shape was found between potassium and mortality, and a marked increase in risk at lower potassium but a moderate elevation in risk at higher potassium were observed. The nadir for AC mortality risk was estimated from piecewise linear models to be a potassium concentration of 4.0 mmol/L. Interestingly, the significance of the association between potassium and mortality was attenuated when albumin was introduced into the extended adjusted model. A subsequent significant mediation by albumin for potassium and AC and CV mortalities were found ( P < 0.001 for both), indicating that hypokalemia led to higher mortality mediated by low serum albumin, which was a surrogate of poor nutritional status and inflammation. CONCLUSIONS Associations between potassium and mortalities were U-shaped in the overall population. The nadir for AC mortality risk was at a potassium of 4.0 mmol/L. Serum albumin mediated the association between potassium and AC and CV mortalities.
Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; East Asian People ; Hypokalemia/etiology* ; Kidney Failure, Chronic/mortality* ; Potassium/blood* ; Prospective Studies ; Renal Dialysis ; Serum Albumin/analysis*

Objective:To investigate the clinical efficacy of laparoscopic radical resection of hilar cholangiocarcinoma (LRHCCA).Methods:The retrospective and descriptive study was constructed. The clinicopathological data of 211 patients who under LRHCCA in the Second Hospital of Hebei Medical University from May 2014 to June 2022 were collected. There were 135 males and 76 females, aged (63±8)years. Observation indicators: (1) surgical situations; (2) postoperative situations; (3) follow-up. Measurement data with normal distribution were represented as Mean± SD, and measurement data with skewed distribution were represented as M( Q1, Q3) or M(range). Count data were described as absolute numbers or percentages. The Kaplan-Meier method was used to calculate survival rate and draw survival curve. Results:(1) Surgical situations. All 211 patients underwent LRHCCA successfully, with the operation time as 350 (300,390)minutes, volume of intraoperative blood loss as 400(200,800)mL, and intraoperative red blood cell transfusion as 2.0(range, 0-15.0)U, respectively. As partial portal vein invasion, 10 of 211 patients underwent portal vein resection and reconstruction. Results of intraoperative histopathology examination showed negative margin of portal vein. The operation time, volume of intraoperative blood loss, intraopera-tive red blood cell transfusion of the 10 patients was (400±53)minutes, 1 200(range, 800-3 000)mL, 5.5(range, 4.0-15.0)U, respectively. (2) Postoperative situations. Of the 211 patients, there were 63 cases of the Bismuth type Ⅰ, 65 cases of the Bismuth type Ⅱ, 22 cases of the Bismuth type Ⅲa, 26 cases of the Bismuth type Ⅲb, 35 cases of the Bismuth type Ⅳ. The R 0 resection rate was 95.73%(202/211). There were 202 patients identified as adenocarcinoma of the bile duct, including 7 cases with poorly differentiated tumor, 189 cases with moderate to poorly differentiated tumor, 3 cases with moderate to well differentiated tumor, 3 cases with well differentiated tumor. There were 8 patients with poorly differentiated biliary mucinous adenocarcinoma, 1 patient with intraductal papillary neoplasm with high-grade epithelial dysplasia. There were 24 cases of stage Ⅰ, 98 cases of stage Ⅱ, 30 cases of stage ⅢA, 34 cases of stage ⅢB, 19 cases of stage ⅢC, 6 cases of stage ⅣA. Of the 211 patients, there were 25 cases with postoperative biliary fistula, 11 cases with postoperative abdominal infection, 3 cases with postoperative bleeding as anastomotic bleeding after biliary fistula, 2 cases with postoperative gastric emptying disability, 1 case with postoperative acute liver failure. There were 7 patients undergoing postoperative unplanned reoperation, including 3 cases with emergency operation for hemostasis, 4 cases with abdominal exploration debridement and drainage for severe abdominal infection. There were 3 cases dead during perioperative period, including 1 case of acute liver failure, 1 case of systemic infection and multiple organ failure, 1 case of exfoliated deep venous thrombosis of lower extremities and acute pulmonary embolism. The postoperative duration of hospital stay was (15±5)days of the 211 patients and (17±4)days of patients undergoing portal vein resection and reconstruction. The cost of hospital stay of the 211 patients was (11.7±1.7)ten thousand yuan. (3) Follow-up. Of the 211 patients, 188 patients were followed up for 21(range, 4?36)months. The median survival time of 188 patients was 22 months, and the postoperative 1-, 2- and 3-year survival rate was 90.9%, 43.1% and 18.7%, respectively. Conclusion:LRHCCA is safe and feasible, with satisfactory short-term effect, under the coditions of clinicians with rich experience in laparoscopic surgery and patients with strict surgical evaluation.

Objective:To study the safety and therapeutic effects of the modified pancreaticogastrostomy based on the concept of " Hong's one-stitch method" in digestive tract reconstruction in pancreatic surgery.Methods:The clinical data of 44 patients who underwent modified pancreaticogastresstomy at the Department of Hepatobiliary Surgery, the Second Hospital of Hebei Medical University from May 2022 to October 2022 were analyzed retrospectively. There were 23 males and 21 females , with a median age of 54 years old (range 18 to 70 years old). The operation time, intraoperative blood loss, postoperative condition and complications were analysed.Results:All the 44 patients completed the operation successfully. There were 29 patients who underwent laparoscopic pancreaticoduodenectomy, 11 patients laparoscopic duodenum-preserving pancreatic head resection, 1 patient laparoscopic central pancreatectomy, and 3 patients open pancreaticoduodenectomy. The time required for the pancreaticogastrostomy was (15.4±1.0) min in laparoscopic surgery, and (9.1±0.5) min in open surgery. There were 2 patients who developed grade A pancreatic fistula (4.55%, 2/44) and 7 patients gastric emptying disorder (15.91%, 7/44). There were no grade B or C pancreatic fistula, biliary fistula, gastrointestinal anastomotic fistula, abdominal infection, postoperative bleeding and perioperative death.Conclusion:The modified pancreaticogastrostomy for digestive tract reconstruction in pancreatic surgery was safe and reliable. It effectively reduced the incidence of postoperative pancreatic fistula and improved prognosis of patients.

Objective:To study the feasibility of a modified pancreatogastric anastomosis in laparoscopic duodenum preserving pancreatic head resection (LDPPHR).Methods:The clinical data of 25 patients with benign or low-grade malignant tumors of pancreatic head undergoing LDPPHR at the Second Hospital of Hebei Medical University from January 2019 to May 2023 were retrospectively analyzed, including 7 males and 18 females, aged (44.9±6.2) years old. According to the methods of pancreatic digestive reconstruction, patients were divided into the observation group ( n=10), who underwent the modified pancreatogastric anastomosis, and the control group ( n=15) who underwent conventional pancreaticojejunal anastomosis and jejuno-jejunal anastomosis. The general data, intraoperative pancreatic digestive reconstruction time, maximum levels of amylase in abdominal drainage within three days postoperatively, postoperative complications, and hospital stay were compared between the groups. Results:All procedures were performed successfully. The intraoperative pancreatic digestive reconstruction time was shorter in the observation group [(27.8±2.4) min vs. (45.8±3.6) min, P=0.010]. The intraoperative blood loss were comparable between the groups [(140.5±14.8) ml vs. (145.2±9.7) ml, P=0.843]. The maximum level of amylase in abdominal drainage within three days postoperatively was lower in the observation group [(809.1±185.5) U/L vs. (1 385.4±481.1) U/L, P=0.031]. No grade C pancreatic fistula or postoperative hemorrhage occurred in either group, and the incidence of grade B pancreatic fistula was lower in the observation group [20.0% (2/10) vs. 60.0% (9/15), P=0.048], with a shorter postoperative hospital stay [(7.9±1.3) d vs. (10.3±2.7) d, P=0.017]. No decrease of life quality or reoperation due to pancreatic fistula, hemorrhage or digestive tract malfunction occurred in either group within a median follow-up of 15.6 months. Conclusion:In LDPPHR, the modified pancreatogastric anastomosis could help shorten the pancreatic digestive reconstruction and lower the risk of postoperative pancreatic fistula.

The online version of the original article can be found at https://doi.org/10.1631/jzus.B1900468 The original version of this article (Liu et al., 2020) unfortunately contained some mistakes. 1. Figs. 7c and 7d in p.229 were incorrect. The upper left and bottom left pictures in Fig. 7c were accidentally duplicated with the pictures at the same position of Fig. 1a. The upper right and bottom right pictures were mistakenly placed in Fig. 7c. Therefore, the calculation results in Fig. 7d were also mistaken. The correct versions should be as follows: 2. Because of the wrong pictures of Fig. 7c, the calculated results of "42.5%" in Abstract, Sections 3.9 and 5 are also mistaken. The correct result should be "45.2%." (1) Lines 10-12 of Abstract in p.218: "CSO-ss-SA/siRNA could effectively transmit siRNA into tumor cells, reducing the expression of RAC1 protein by 38.2% and decreasing the number of tumor-induced invasion cells by 42.5%." was incorrect. The correct version should be "CSO-ss-SA/siRNA could effectively transmit siRNA into tumor cells, reducing the expression of RAC1 protein by 38.2% and decreasing the number of tumor-induced invasion cells by 45.2%." (2) Lines 23-26 of Section 3.9 in p.227: "It was shown that the number of invasive tumor cells induced by DOX was reduced by 42.5% since CSO-ss-SA/siRNA downregulated the expression of RAC1 protein." was incorrect. The correct version should be "It was shown that the number of invasive tumor cells induced by DOX was reduced by 45.2% since CSO-ss-SA/siRNA downregulated the expression of RAC1 protein." (3) Lines 4-8 of Section 5 in p.231: "CSO-ss-SA, as an efficient redox-sensitive carrier for delivering siRNA silencing RAC1 into tumor cells, reduced the expression of RAC1 by 38.2% and decreased DOX-induced tumor invasion cells by 42.5% in vitro." was incorrect. The correct version should be "CSO-ss-SA, as an efficient redox-sensitive carrier for delivering siRNA silencing RAC1 into tumor cells, reduced the expression of RAC1 by 38.2% and decreased DOX-induced tumor invasion cells by 45.2% in vitro."

Objective:To investigate the characteristics of gene mutations in colorectal cancer(CRC)patients by using next-generation generation sequencing(NGS).Methods:Blood and tissue samples were collected from 90 CRC patients admitted to Beijing Hospital between August 5, 2016 and December 29, 2020.Analysis of driver gene mutations was performed by using a 1021-gene NGS panel.Results:There were 43 tissue samples and 83 blood samples.Also, 36 patients had both tissue and blood samples.The frequency rates of KRAS and BRAF mutations were 51.2%(22/43)and 20.9%(9/43)in tissue samples, and 3 rare concomitant KRAS/ BRAF mutations were detected.The frequency rates of KRAS and BRAF mutations were 26.5%(22/83)and 10.8%(9/83)in blood samples.In patients with tissue and blood samples, the rates of KRAS and BRAF mutations were 52.8%(19/36)and 10.8%(8/36). Conclusions:The rate of KRAS mutations in tissue samples from colorectal cancer patients is similar to rates reported in the literature, but the rate of BRAF mutation and the rate of rare KRAS and BRAF co-mutations are higher than those reported from other countries.

Total hip arthroplasty plays a key role in the end-stage diagnosis and treatment of a variety of femoral and hip diseases, but the risk of dislocation caused by traditional bone cement prosthesis has always been one of the key constraints of total hip arthroplasty. Bousquet added a polymer lining between the femoral head and acetabulum to separate the activities between the lining and acetabulum. The dual mobility acetabular cup system can effectively reduce the incidence of prosthesis dislocation. The first generation of the dual mobility acetabular cup system is lined with polyethylene. With the progress of modern material medicine technology, a new type of the dual mobility acetabular cup system with smooth surface, bionic coating and high cross-linked polyethylene liner has been gradually formed, and its performance has been improved. Because of the existence of the inner liner, the distance between the femoral head and acetabulum of the dual mobility acetabular cup system is larger, which can allow greater range of motion, has higher stability, is not easy to dislocate, and has lower wear degree of the prosthesis at the same time. Therefore, the dual mobility acetabular cup system is more and more widely used in clinical practice, especially for the elderly with high risk of dislocation, revision surgery or neuromuscular dysfunction. But on the other hand, based on the design principle of dual motion total hip prosthesis, the disadvantages such as intraprosthetic dislocation caused by multiple factors and the lack of fixation holes result in the dual motion total hip system easily triggering acetabular loosening when targeting patients such as severe bone defects, thus limiting its further use. The dual motion total hip system can be tailored to different clinical applications, such as for populations with different characteristics, and for different methods of primary surgery, with different application strategies, thereby reducing the incidence of postoperative revision. In this paper, we take the application of the dual motion total hip acetabular system in the total hip arthroplasty as the core, and the system puts forth the principle of the dual motion total hip acetabular system, compared with traditional bone materials, introduces its advantages and disadvantages, and reveals its application strategy in the clinic, and gives an outlook for the future application of the dual motion total hip acetabular system in orthopedics.

Objective:To observe the changes in the related indicators of bone formation and bone resorption in severely burned rats.Methods:The experimental research method was adopted. Thirty female Sprague-Dawley rats aged 6 to 8 weeks were divided into sham injury group, 12% total body surface area (TBSA) full-thickness burn group, and 24%TBSA full-thickness burn group according to the random number table, with 10 rats in each group. The rats were treated on the back correspondingly, after which, the burned rats were rehydrated by intraperitoneal injection according to the Parkland formula, and the wound was coated with 20 g/L iodophor until wound healing. On post injury day (PID) 28, the tibia tissue of rats in each group was collected. The new bone tissue and the number of osteoclasts were observed after staining with Masson and tartrate-resistant acid phosphatase, respectively. The abdominal aortic blood of rats in each group was harvested for serum preparation. The bone metabolism indexes of serum calcium ion and phosphorus ion concentration were determined by the methyl thymol blue colorimetric method and phosphomolybdic acid method, respectively. The serum levels of bone formation marker of aminoterminal propeptide of type 1 procollagen (P1NP) and bone resorption marker of beta-carboxy-terminated peptide of type Ⅰ collagen (β-CTX) were determined by enzyme-linked immunosorbent assay. The first lumbar spine tissue of rats in each group was collected, and the mRNA expression levels of osteoprotegerin, receptor activator of nuclear factor-κB ligand (RANKL), tumor necrosis factor receptor-associated factor 6 (TRAF-6), nuclear factor of activated T cell 1 (NFATC1), c-Fos, and c-Src were detected by real-time fluorescent quantitative reverse transcription polymerase chain reaction. Data were statistically analyzed with one-way analysis of variance, Bonferroni method, Welch test, Games-Howell test, Kruskal-Wallis test, Mann-Whitney U test, and Bonferroni correction. Results:On PID 28, compared with that in sham injury group, the formation of new bone tissue in the tibia tissue of rats in the two burn groups was decreased, and the larger the burn area, the more obvious the decrease. The numbers of osteoclasts in the tibia tissue of rats in the two burn groups were similar, both significantly more than the number in sham injury group. On PID 28, the serum calcium ion concentration and serum level of β-CTX of rats in the three groups were similar ( P>0.05). The serum phosphorus ion concentration of rats in 24%TBSA full-thickness burn group was significantly higher than that in 12%TBSA full-thickness burn group ( P<0.05), and the serum phosphorus ion concentrations in the two burn groups were significantly higher than the concentration in sham injury group ( P<0.01). The serum level of P1NP of rats in 24%TBSA full-thickness burn group was significantly lower than that in sham injury group ( P<0.01). On PID 28, the mRNA expression levels of osteoprotegerin in the first lumbar spine tissue of rats in sham injury group, 12%TBSA full-thickness burn group, and 24%TBSA full-thickness burn group were 1.01±0.20, 1.71±0.83, and 2.24±0.51, respectively, and that in 24%TBSA full-thickness burn group was significantly higher than that in sham injury group ( P<0.01). The mRNA expression level of RANKL in the first lumbar spine tissue of rats in 24%TBSA full-thickness burn group was 1.31±0.17, which was significantly higher than 1.00±0.14 in sham injury group and 0.97±0.10 in 12%TBSA full-thickness burn group ( P<0.01). The mRNA expression levels of TRAF-6, NFATC1 ( Z=3.141, 3.782), and c-Src in the first lumbar tissue of rats in 12%TBSA full-thickness burn group and 24%TBSA full-thickness burn group and the mRNA expression level of c-Fos in the first lumbar tissue of rats in 12%TBSA full-thickness burn group were significantly higher than those in sham injury group ( P<0.05 or P<0.01). The mRNA expression levels of c-Fos and c-Src in the first lumbar spine tissue of rats in 12%TBSA full-thickness burn group were significantly higher than those in 24%TBSA full-thickness burn group ( P<0.01). Conclusions:Severe burns can cause a decrease in the generation of new bone tissue, an increase in the number of osteoclasts and the serum phosphorus ion concentration, and a decrease in the serum level of P1NP in rats. The level of osteoprotegerin, RANKL, TRAF-6, NFATC1, c-Fos, and c-Src in bone tissue showed an increasing trend while the level of NFATC1, c-Fos, and c-Src showed a decreasing trend with the increase of burn area.