Objective:To investigate the genetic, clinical, and post-treatment characteristics of patients with glycogen storage disease type Ⅲ (GSD Ⅲ).Methods:A retrospective cohort analysis was performed on the genetic and clinical data of 26 cases with GSD Ⅲ who visited the Children's Hospital affiliated with Fudan University from June 2017 to December 2023. The patients were divided into non-missense variation and missense variation groups according to the types of mutation in the AGL gene.The correlation between genotype and phenotype was analyzed. All patients were treated with uncooked cornstarch after diagnosis. The changes before and after treatment were compared in patients who underwent more than twelve months of follow-up. A P value of <0.05 was used to denote statistical significance. Results:Among the 26 cases enrolled, 13 were female and 13 were male, and the median age of diagnosis was 28 (6 to 134) months. A total of thirty-five different types of AGL gene variation were detected, with c.1735+1G＞T (9/52, 17.3%) as the hotspot variation. The common clinical manifestations were elevated aminotransferases (26/26, 100%), hepatomegaly (25/26, 96.2%), fasting hypoglycemia (25/26, 96.2%), hyperketonemia (16/18, 88.9%), hypertriglyceridemia (TG) (20/26, 76.9%), elevated CK (16/25, 64.0%), and an abnormal electrocardiogram (12/16, 75.0%). Four cases (15.4%) had symptoms of myopathy at diagnosis. Liver biopsy was performed in eighteen cases, among whom 83.3% (15/18) had liver fibrosis≥S2. The number of cases with elevated levels of CK ( P＝0.031) and ALT ( P＝0.038)was pronounced in the non-missense variation group compared to that in the missense variation group. There were no statistically significant differences in age, height, liver size, degree of fibrosis, fasting blood glucose (Glu) and TG ( P>0.05). The median follow-up time of 14 cases was 40.5 (20-73) months, with improvement in body stature, reduced liver size, decreased ALT and TG, and improved Glu. However, four (28.6%) cases had new myopathy symptoms with raised CK ( P<0.05) and with advancing age, increased ALT diminished while CK level elevated ( P<0.05). Conclusions:The common clinical manifestations at the early stage of the GSD Ⅲdiagnosis are elevated aminotransferases, hepatomegaly, fasting hypoglycemia, hyperketonemia, high triglycerides, elevated CK, and fibrotic liver in China. Myopathy symptoms may arise following uncooked cornstarch treatment; however, there is significant improvement in height, liver-related, and metabolic parameters.

Radical cystectomy combined with pelvic lymph node dissection is the standard procedure for the treatment of muscle invasive bladder cancer and complex non-muscle invasive bladder cancer.Our department has routinely carried out laparoscopic radical cystectomy(ELRC)through the extraperitoneal approach in 340 cases.This article summarizes the establishment of the peritoneal space,the expansion of the peritoneal space,the operation steps of bladder resection and lymph node dissection through the peritoneal channel,and how to shorten the operation time and reduce the difficulty of the operation.During the surgery,the bladder is removed periperitoneally without destroying the peritoneum to preserve the functions of peritoneum support,secretion,protection and lubrication,which has little impact on the abdominal organs,reduces the incidence of complications,and provides favorable conditions for subsequent treatment.

Objective To explore the therapeutic effect of mesorectal excision in gasless transaxillary endoscopic thyroidectomy.Methods Clinical data of 75 patients who underwent gasless unilateral transaxillary endoscopic thyroidectomy from May 2020 to November 2022 were retrospectively analyzed.A total of 40 cases were treated with mesorectal excision(observation group),and 35 cases were treated with thyroid resection followed with central lymph node resection(control group).The operation time,intraoperative blood loss,postoperative hospital stay,number of lymph nodes dissected,and postoperative complications were compared between the two groups.Results All the patients successfully completed the operation.As compared with the control group,the observation group had shorter operation time[(91.8±19.7)min vs.(110.4±19.3)min,t =-4.133,P =0.000]and more lymph nodes dissected[(6.5±2.5)vs.(4.6±2.0),t = 3.610,P = 0.001].There were no statistically significant differences between the two groups in the amount of intraoperative bleeding,recurrent laryngeal nerve injury,and the postoperative hospital stay.There was no hypoparathyroidism,postoperative bleeding,or wound infection in both groups.Conclusion Mesorectal excision is safe and feasible in endoscopic thyroidectomy via axillary approach,with more thorough lymph node dissection in the central region and better protection of recurrent laryngeal nerve.

Objective To explore the learning curve of endoscopic mesothyroid excision via gasless axillary approach.Methods Clinical data of 44 patients who underwent endoscopic mesothyroid excision via gasless axillary approach between May 2020 and December 2022 by the same surgical team were retrospectively analyzed.Taking operation time as index,the learning curve of the operation was studied with the cumulative sum method(CUSUM).The cut-off value of the learning curve was regarded as the dividing line of different stages.The general data,operation time,intraoperative blood loss,hospital stay,number of lymph node dissection,and postoperative complications were compared between the different phases of the learning curve.Results The operations were successfully completed in all the 44 patients without conversion to open surgery.The cumulative sum fitting curve reached the top at the 21st case,which was used as the boundary to divide the learning curve into learning improvement stage and mature stable period.There was no statistically significant difference between the two stages in general data(P>0.05).The operation time in the learning improvement stage was significantly longer than in the mature stable period[(124.5±9.9)min vs.(82.0±8.8)min,t =15.166,P =0.000].The incidence of postoperative sternocleidomastoid muscle swelling and stiffness in patients in the learning improvement stage was higher than that in the mature stable period,but the difference was not statistically significant[6 cases(28.6%)vs.1 case(4.3%),χ2 =3.174,P =0.075].There was no significant difference between the two groups in terms of intraoperative bleeding,hospital stay,number of lymph node dissection,and other postoperative complications(all P>0.05).Conclusion To proficiently master the endoscopic mesothyroid excision via the gasless axillary approach,21 cases need to be completed.

Objective To explore the clinical effect of personalized pars plana vitrectomy(PPV)for proliferative di-abetic retinopathy(PDR).Methods In this retrospective case study,76 patients(86 eyes)diagnosed with PDR and re-ceiving PPV in the Department of Ophthalmology of Songjiang Hospital affiliated to Shanghai Jiao Tong University School of Medicine,from October 2019 to November 2022,were divided into the observation group(40 patients,46 eyes)and the control group(36 patients,40 eyes).Patients in the obseration group were treated with personalized PPV,while patients in the control group were treated with conventional PPV,After treatment,all patients were followed up for 12 months.The operation time,intraoperative use of heavy water and silicone oil,incidence of iatrogenic retinal tears and heavy water resi-dues,proportion of scleral buckling,preoperative and postoperative best corrected visual acuity(BCVA)and intraocular pressure(IOP),retinal reattachment rate at 12 months after surgery,and the incidence of post-vitrectomy vitreous hemor-rhage(PVH),diabetic macular edema(DME)and neovascular glaucoma(NVG)were compared between the two groups.Results The operation time of patients in the observation group was shorter than that in the control group(P＜0.05).Intraoperative use of heavy water and silicone oil in the observation group was lower than that in the control group(both P＜0.05).The incidence of iatrogenic retinal tears and heavy water residues and the proportion of scleral buckling showed no statistically significant difference between the two groups(all P＞0.05).There was no statistically significant difference between the two groups in BCVA preoperatively,3,6 and 12 months postoperatively(all P＞0.05).BCVA in the observa-tion group was better than that in the control group at 1 day,1 week and 1 month after surgery(all P＜0.05).Compared with the preoperative value,BCVA increased in the observation group at 1 day,1 week,1 month,3 months,6 months,and 12 months after surgery(all P＜0.05);in the control group,BCVA increased slightly at 1 day and 1 week(both P＞0.05)and then increased significantly at 1 month,3 months,6 months,and 12 months after surgery(all P＜0.05).The two groups showed no statistically significant difference in IOP at 1 day,1 week,1 month,3 months,6 months,and 12 months postoperatively(all P＞0.05).There was no statistically significant difference in the retinal reattachment rate and the inci-dence of complications such as PVH,DME,and NVG between the two groups at 12 months postoperatively(all P＞0.05).Conclusion Personalized PPV can shorten the operation time,reduce the intraoperative use of heavy water and silicone oil,enhance the efficiency of the operation,and rapidly improve the visual acuity of PDR patients.

Objective:To explore the feasibility and consistency of a new digital classification system of pelvic fractures named as JST classification based on close reduction techniques.Methods:A retrospective collection was conducted of the data from the 63 patients with pelvic fracture who had undergone surgical treatment after JST classification at Department of Orthopaedics and Traumatology, Beijing Jishuitan Hospital from March 2021 to March 2023. Digital classification of the pelvic fractures was performed based on their locations and displacements. The classification first divides the pelvis into 4 parts: left half pelvis and right half pelvis; sacral Denis Ⅲ area and pubic symphysis. The symmetrical left and right sacral Denis Ⅰ and Denis Ⅱ areas are also included in the left/right half pelvis. Subsequently, the left half pelvis and right half pelvis are divided into 4 regions and marked by capitalized English letters: Sacrum Area (including Denis Ⅰ and Denis Ⅱ, denoted as S), Sacroiliac Joint Area (denoted as J), Iliac Area (denoted as I), and Pubic Area (denoted as P); to distinguish right/left, R and L are used as prefixes. The 2 asymmetric parts are also marked with English letters: Denis Ⅲ area of the sacrum (denoted as Sac), and pubic symphysis (denoted as C). Afterwards, the fracture line morphology and displacement in each region are marked digitally to form a complete JST classification system. The inter- and intra-observer reliabilities (Fleiss' and Cohen's Kappa) of the JST classification system were tested by 3 observers with more than 10 years of experience in pelvic fracture treatment.Results:Consistency analysis of the JST classification results showed that the mean κ value of the intra-observer reliability was 0.818 (from 0.658 to 0.946, P<0.001) and the inter-observer reliability 0.873 (from 0.674 to 1.000, P<0.001), both indicating excellent agreement. Of the 63 patients, 59 obtained successful closed reduction with the assistance of the Rossum Robot R-Universal intelligent orthopedic surgical robot system after fracture classification by the JST system, yielding a success rate of 93.7% (59/63). Conclusions:The new JST classification system for pelvic fractures demonstrates strong intra and inter-observer reliabilities compared with traditional classification systems. As JST classification system labels each fracture site and key bones, it is of great significance for the deep learning and intraoperative operations of intelligent fracture robots.

Objective:To elucidate the recent therapeutic efficacy of the intelligent fracture reduction robotic system in managing pelvic fractures.Methods:A retrospective evaluation of 49 pelvic fracture patients treated using the intelligent fracture reduction robotic system at Beijing Jishuitan Hospital's trauma orthopedics department between March 2021 and December 2022 was conducted. The cohort included 30 males and 19 females, with a mean age of 51.51±18.71 years (20-92 years range). Fractures were classified according to the Tile system: B1 type in 2 cases, B2 in 7, B3 in 3, C1 in 30, and C2 in 3. The median interval between injury and surgery was 6 days, with a range of 2-22 days. The robotic system assisted in pelvic fracture reduction and stabilization surgeries. Preoperative and postoperative evaluations involved pelvic CT scans, anteroposterior, inlet, and outlet radiographic images. Fracture displacement and reduction outcomes were assessed via X-ray imagery. Data captured included intraoperative blood loss, duration of surgery, fracture stabilization techniques, and postoperative monitoring period. The Majeed scoring system gauged functional outcomes.Results:Of the patients, 48 underwent minimally invasive interventions with robotic assistance, while one case necessitated open reduction and internal fixation due to an unsuccessful reduction. The duration between injury and operation ranged from 2 to 22 days. Average surgical time stood at 206.5±7.1 minutes (105-440 min range), and median intraoperative blood loss was 100ml (10-600 ml range). Using the Matta reduction criteria, 30 postoperative cases exhibited excellent and 9 good outcomes for posterior pelvic ring displacement, translating to a 93% (38/41) positive rate. For anterior pelvic ring shifts, 45 showed excellent and 3 good outcomes, culminating in a 100% (48/48) success rate. Follow-up for the 48 cases lasted 11.0 months (3-23 months range), with the Majeed functional score averaging 81.9±17.0 points (42-100 point range). 27 cases scored excellent, and 11 good, yielding a combined positive outcome rate of 79.2% (38/48).Conclusion:Employing the intelligent fracture reduction robotic system in pelvic fracture treatments facilitates minimally invasive interventions and yields favorable short-term clinical results.

【Objective】 To explore the safety and efficacy of a modified one-piece posterior laparoscopic total nephroureterectomy with cystic sleeve resection in the treatment of upper urinary tract uroepithelial carcinoma (UTUC). 【Methods】 A total of 24 patients treated during Jan. and Jun. 2022 were involved, including 16 males and 8 females, aged 62 to 90 (average 73) years. The UTUC was in the left side in 15 cases, and in the right side in 9 cases. There were 10 cases of renal pelvis tumor, 6 cases of upper ureteral tumor and 8 cases of lower ureteral tumor. 【Results】 All operations were successful without conversion to open surgery. The operation time ranged from 60 to 100 minutes, average (71.25±9.80) minutes. The intraoperative bleeding volume was 20 to 200 mL, average (30.03±8.13) mL. No significant intraoperative or postoperative complications occurred. The postoperative hospital stay was 4 to 7 days, average (5.83±1.44) days. Bladder perfusion chemotherapy was performed after surgery. 【Conclusion】 The modified one-piece posterior laparoscopic total nephroureterectomy plus cystic sleeve resection for UTUC is an effective and feasible procedure with satisfactory tumor control, which is worth further promotion in clinical practice.

【Objective】 To investigate the efficacy and safety of single position transabdominal and extraperitoneal laparoscopic radical nephroureterectomy in the treatment of upper tract urothelial carcinoma (UTUC). 【Methods】 Clinical data of 31 UTUC cases treated in our hospital during Nov.2018 and Jun.2022 were retrospectively analyzed, including 11 tumors in the right side, and 20 in left side. There were 14 cases of renal pelvic carcinoma, 16 cases of ureter carcinoma, and 1 case of renal pelvic carcinoma plus ureter carcinoma. 【Results】 All surgeries were successfully performed without conversion to open surgery. The mean operation time was (81.45±19.80) min, and the estimated blood loss was (69.03±24.13) mL. No serious perioperative complications were observed. The average postoperative hospital stay was (6.13±2.44) d, and the median follow-up was 28 (3.0-49.0) months. At the last follow-up, 2 patients died, 3 had recurrence, but no contralateral recurrence was observed. 【Conclusion】 Single position transabdominal and extraperitoneal laparoscopic radical nephroureterectomy is safe, effective and feasible in the treatment of UTUC. It is worth clinical popularization.

【Objective】 To explore the correlation between CSAG1 expression and the prognosis and tumor-infiltrating lymphocytes in renal clear cell carcinoma (RCCC), and to predict the survival and tumor progression. 【Methods】 The gene expression profiles and clinical information of CSAG1 were downloaded from the Cancer Genome Atlas (TCGA). Based on the differential mRNA expression, GO annotation and KEGG pathway analysis were performed. The relationship between CSAG1 and tumor immune infiltration was assessed with Tumor Immunoassay Resource (Timer 2.0) database. The mRNA expression of CSAG1 in human RCCC specimens was validated with qRT-PCR. 【Results】 CSAG1 expression was significantly higher in RCCC tissues than in normal tissues (P<0.05). The qRT-PCR results revealed that the mRNA level of CSAG1 was consistent with that predicted by bioinformatic analysis. The KEGG analysis and GO annotation indicated high GSAG1 expression in RCCC was related to transmembrane transport, tricarboxylic acid cycle and lysosome. CSAG1 expression was positively related to the infiltration of pDC, aDC, CD8⁺ T cells, cytotoxic cells, TFH, TH1 cells, Tem, NK CD56^dm cells, Treg and T cells, but negatively correlated with macrophage infiltration. 【Conclusion】 CSAG1 may be associated with poor prognosis of RCCC and become a potential immunotherapy target.