Polycystic kidney disease (PKD) is a group of inherited disorders characterized by cystic lesions in the kidneys and multiple organs, primarily including autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). ADPKD is mainly caused by variations in the PKD1 and PKD2 genes. Its clinical manifestations include progressive renal cyst growth, hypertension, and multi-system complications. ARPKD, on the other hand, is primarily caused by mutations in the PKHD1 gene. It commonly occurs in infants and young children, with hepatorenal cystic fibrosis being a key feature. Although there is currently no cure for PKD, the integration of multi-omics and precision medicine strategies holds promise for optimizing patient management and improving outcomes in the future. This review summarizes the genetic basis, pathogenic mechanisms, diagnostic techniques, and therapeutic advances in PKD, providing a reference for clinical practice and research.
Humans ; Polycystic Kidney Diseases/genetics* ; TRPP Cation Channels/genetics* ; Mutation ; Polycystic Kidney, Autosomal Dominant/therapy* ; Receptors, Cell Surface

Objective:To explore the efficacy and prognosis of hepatectomy via Laennec membrane approach in patients with hepatocellular carcinoma (HCC).Methods:The data of 98 patients with HCC who underwent hepatectomy in the First Affiliated Hospital of Soochow University from January 2016 to December 2022 were retrospectively analyzed, including 76 males and 22 females, aged 61.0 (55.0, 66.0) years. Forty-eight patients treated with Laennec membrane approach hepatectomy were included in the study group and 50 patients treated with traditional approach hepatectomy were included in the control group. The age, gender, combined hypertension and diabetes, aspartate transaminase, alanine transaminase, albumin, total bilirubin, prealbumin, platelet, alpha-fetoprotein, carbohydrate antigen 19-9 and carbohydrate antigen 125 were compared between the two groups. The surgical bleeding, operation time and complications (abdominal bleeding, bile leakage, poor incision healing, etc.) were compared between the two groups. The prognosis of the two groups was compared.Results:There were no significant differences in gender, age, underlying diseases, preoperative biochemical and tumor serological indexes between the two groups (all P>0.05). The operation time of the study group was 180.0 (141.3, 227.3) min, which was lower than that of the control group 221.5 (187.5, 256.3) min ( Z=-0.41, P=0.002). The intraoperative blood loss in the study group was 295.0 (127.5, 350.0) ml, which was lower than that in the control group 300.0 (200.0, 500.0) ml, and the difference was statistically significant ( Z=-1.97, P=0.003). The levels of aspartate transaminase and alanine transaminase 1 week after surgery in the study group were 33.4 (24.0, 43.8) U/L and 64.5 (38.3, 119.1) U/L, respectively, which were lower than those in the control group 41.3 (29.7, 63.0) U/L and 102.8 (50.1, 140.7) U/L, the differences were statistically significant ( Z=-2.09, -2.38, P=0.035, 0.028). Postoperative complications occurred in 8 cases (16.7%) in the study group and 10 cases (20.0%) in the control group, with no significant difference between the two groups ( χ2=0.18, P=0.670). The median overall survival was 16 months in the study group and 18 months in the control group, respectively. There was no significant difference in cumulative survival between the two groups ( χ2=1.41, P=0.130). Conclusion:Laennec membrane approach hepatectomy can not only shorten the operation time and reduce the amount of blood loss, but also promote the recovery of liver function.

Objective:To explore the efficacy and prognosis of hepatectomy via Laennec membrane approach in patients with hepatocellular carcinoma (HCC).Methods:The data of 98 patients with HCC who underwent hepatectomy in the First Affiliated Hospital of Soochow University from January 2016 to December 2022 were retrospectively analyzed, including 76 males and 22 females, aged 61.0 (55.0, 66.0) years. Forty-eight patients treated with Laennec membrane approach hepatectomy were included in the study group and 50 patients treated with traditional approach hepatectomy were included in the control group. The age, gender, combined hypertension and diabetes, aspartate transaminase, alanine transaminase, albumin, total bilirubin, prealbumin, platelet, alpha-fetoprotein, carbohydrate antigen 19-9 and carbohydrate antigen 125 were compared between the two groups. The surgical bleeding, operation time and complications (abdominal bleeding, bile leakage, poor incision healing, etc.) were compared between the two groups. The prognosis of the two groups was compared.Results:There were no significant differences in gender, age, underlying diseases, preoperative biochemical and tumor serological indexes between the two groups (all P>0.05). The operation time of the study group was 180.0 (141.3, 227.3) min, which was lower than that of the control group 221.5 (187.5, 256.3) min ( Z=-0.41, P=0.002). The intraoperative blood loss in the study group was 295.0 (127.5, 350.0) ml, which was lower than that in the control group 300.0 (200.0, 500.0) ml, and the difference was statistically significant ( Z=-1.97, P=0.003). The levels of aspartate transaminase and alanine transaminase 1 week after surgery in the study group were 33.4 (24.0, 43.8) U/L and 64.5 (38.3, 119.1) U/L, respectively, which were lower than those in the control group 41.3 (29.7, 63.0) U/L and 102.8 (50.1, 140.7) U/L, the differences were statistically significant ( Z=-2.09, -2.38, P=0.035, 0.028). Postoperative complications occurred in 8 cases (16.7%) in the study group and 10 cases (20.0%) in the control group, with no significant difference between the two groups ( χ2=0.18, P=0.670). The median overall survival was 16 months in the study group and 18 months in the control group, respectively. There was no significant difference in cumulative survival between the two groups ( χ2=1.41, P=0.130). Conclusion:Laennec membrane approach hepatectomy can not only shorten the operation time and reduce the amount of blood loss, but also promote the recovery of liver function.

Generative Artificial Intelligence ishows a broad application prospect in the field of healthcare and has become an important technical means to promote the development of medical informatization.It addresses the multi-faceted challenges of medical record documentation,including efficiency,quality,and doctor-patient communica-tion.It analyzes the adaptability and feasibility of Generative Artificial Intelligence in different clinical scenarios of intelli-gent medical record generation.Additionally,it explores the issues present in current applications and proposes corre-sponding solutions,providing references for the effective application and continuous optimization of Generative Artifi-cial Intelligence in medical record documentation.This provides a theoretical foundation for further expanding the appli-cation scenarios of automatic medical record documentation in China's healthcare industry.

To explore the in vitro and in vivo synergistic effect of paclitaxel in combination with co-listin against MDREscherichia coli(E.coli)and the corresponding mechanism of synergism,we measured the MICs of PTX alone and combination of PTX+antimicrobial drugs on E.coli and Staphylococcus aureus(S.aureus)by broth microdilution method.Then,checkerboard method was used to determine the FICI of PTX+COL combination,and the antibacterial synergies of PTX and COL was further explored through analyzing the membrane permeability and efflux pump ac-tivity.The MICs results showed that the MIC values of PTX alone against E.coli(G5,E25)and S.aureus S238 were＞1 024 mg/L and 512 mg/L,respectively.Meanwhile,we found that the anti-bacterial activity of COL against E.coli could be significantly enhanced(MIC decreased by 4 to 8 times)when used in combination with PTX.The checkerboard test showed that the FICI values of PTX combined with COL for E.coli(G5,E25)were 0.31 and 0.29,respectively,indicating a synergistic antibacterial effect on these strains.The FICI values of PTX combined with COL for E.coli G21,S.aureus(S237 and S238)were 0.51,0.75 and 0.53,respectively,indicating additive effects on these strains.In the mouse abdominal infection model,the combination group could ex-tremely significantly reduce the bacterial burden of E.coli in abdominal compared to the COL or PTX alone group(P＜0.001).The analysis of membrane permeability and efflux pump activity showed that PTX combined with COL significantly increased the inner and outer membrane per-meability of E.coli(G5 and E25),and markedly inhibited the efflux pumping activity of E.coli,when compared that of PTX and COL alone(P＜0.01).The above results indicated that the com-bination of PTX and COL could exert a synergistic in vivo and in vitro antibacterial effect on COL-resistant E.coli through increasing bacterial membrane permeability and inhibiting efflux pump activity.This study provides the theoretical foundation for the development of a novel combi-nation regimen for the treatment of MDR E.coli infection.

Objective To evaluate the recognition capability of AI-enabled Cellsee CS-BM1 automatic cell morphology analyzer for pe-ripheral blood smears and its roles in assisting manual classification,and explore the application value of AI system in the diagnosis network of tiered primary medical units.Methods The blood samples which triggered the re-examination rules were collected from six primary medical units,including the Laboratory Department of Shanghai Jiahui International Hospital,and so on,from March to No-vember 2023.The smears of peripheral blood were prepared and AI analyzer was used for pre-classification to evaluate its recognition performance in identifying the samples with abnormal WBC and RBC.The sensitivity,specificity,and accuracy of WBC classification by six junior and intermediate technicians,both with and without AI assistance,were analyzed.Additionally,the roles of the AI system in tiered diagnosis of primary medical units were also evaluated.Results The sensitivity,specificity,and accuracy of AI system in recognizing malignant primitive cells were 92.86％,95.16％,and 95.10％,respectively.The sensitivities of AI system in recognizing immature granulocytes,reactive lymphocytes,and nucleated RBCs were all greater than 90％.The sensitivity of AI system in identif-ying abnormal morphology of RBCs reached 99.59％,along with rapid quantitative analysis for various anomalous types of RBCs.In AI-assisted mode,the sensitivity of recognition for all cell types was improved to varying degrees by junior and intermediate technicians,and the sensitivity for recognizing malignant primitive cells,reactive lymphocytes,and immature granulocytes increased to 58.24％,53.39％,and 62.37％for junior technicians,and to 92.06％,83.24％,and 83.12％for intermediate technicians,respectively.The improvements for junior technicians were particularly significant,with increases of 12.46％,10.61％,and 3.71％for each cell type,respectively.Both groups achieved higher specificity and accuracy.Through AI pre-classification and manual review,a variety of pe-ripheral blood cell-related diseases were accurately diagnosed in the tiered healthcare practice of primary medical units,including 339 cases(11.13％)of red blood cell diseases,5 cases(0.16％)of platelet diseases,2 343 cases(76.90％)of infection-related disea-ses,and 28 cases(0.92％)of malignant hematological diseases.In addition,332 cases(10.90％)which lacked an obvious related cause or required further examinations were identified as well.Conclusion AI pre-classification has demonstrated strong cell recogni-tion capabilities and may assist technicians in improving the sensitivity,specificity,and accuracy of blood cell classification.AI could en-hance the disease-screening capabilities in the tiered diagnosis network of primary medical units,presenting a broad application prospect.

Objective To evaluate the recognition capability of AI-enabled Cellsee CS-BM1 automatic cell morphology analyzer for pe-ripheral blood smears and its roles in assisting manual classification,and explore the application value of AI system in the diagnosis network of tiered primary medical units.Methods The blood samples which triggered the re-examination rules were collected from six primary medical units,including the Laboratory Department of Shanghai Jiahui International Hospital,and so on,from March to No-vember 2023.The smears of peripheral blood were prepared and AI analyzer was used for pre-classification to evaluate its recognition performance in identifying the samples with abnormal WBC and RBC.The sensitivity,specificity,and accuracy of WBC classification by six junior and intermediate technicians,both with and without AI assistance,were analyzed.Additionally,the roles of the AI system in tiered diagnosis of primary medical units were also evaluated.Results The sensitivity,specificity,and accuracy of AI system in recognizing malignant primitive cells were 92.86％,95.16％,and 95.10％,respectively.The sensitivities of AI system in recognizing immature granulocytes,reactive lymphocytes,and nucleated RBCs were all greater than 90％.The sensitivity of AI system in identif-ying abnormal morphology of RBCs reached 99.59％,along with rapid quantitative analysis for various anomalous types of RBCs.In AI-assisted mode,the sensitivity of recognition for all cell types was improved to varying degrees by junior and intermediate technicians,and the sensitivity for recognizing malignant primitive cells,reactive lymphocytes,and immature granulocytes increased to 58.24％,53.39％,and 62.37％for junior technicians,and to 92.06％,83.24％,and 83.12％for intermediate technicians,respectively.The improvements for junior technicians were particularly significant,with increases of 12.46％,10.61％,and 3.71％for each cell type,respectively.Both groups achieved higher specificity and accuracy.Through AI pre-classification and manual review,a variety of pe-ripheral blood cell-related diseases were accurately diagnosed in the tiered healthcare practice of primary medical units,including 339 cases(11.13％)of red blood cell diseases,5 cases(0.16％)of platelet diseases,2 343 cases(76.90％)of infection-related disea-ses,and 28 cases(0.92％)of malignant hematological diseases.In addition,332 cases(10.90％)which lacked an obvious related cause or required further examinations were identified as well.Conclusion AI pre-classification has demonstrated strong cell recogni-tion capabilities and may assist technicians in improving the sensitivity,specificity,and accuracy of blood cell classification.AI could en-hance the disease-screening capabilities in the tiered diagnosis network of primary medical units,presenting a broad application prospect.

Objective:To evaluate the early outcomes of total hip arthroplasty (THA) and discuss the revisions post THA in the treatment for Kashin-Beck disease (KBD) with severe hip problems.Methods:This retrospective cohort study enrolled 50 patients (64 hips) with a mean age of 52.4±8.7 years, including 25 male patients and 25 female patients (36 left hips and 28 right hips), who were diagnosed as KBD with hip problems and received THA at Arthritis Clinical and Research Centre, Peking University People's Hospital from October 2019 to January 2024. The leg length discrepancy (LLD), femoral offset (FO), abduction angle and anteversion angle were calculated preoperatively and one week post-operation. The postoperative radiological indexes and the functional outcomes in the last follow-up were compared with the preoperative assessment.Results:The surgical duration was 105(80, 120) min and the bleeding amount was 300(200, 400) ml. All the cases were followed up for an average of 37 months (ranging from 21 to 44 months). Significant differences were found on postoperative radiological images, with LLD improving to 0.50±0.78 cm from a preoperative value of -1.36±0.79 cm, and FO increasing to 3.28±1.01 cm from 2.72±0.83 cm ( P<0.05). The mean postoperative abduction angle and anteversion angle were 42.5°±7.7° and 15.1°±5.9°, respectively. A total of 71.8% and 95.3% hips fell within the Lewinnek safe zones of abduction angle and anteversion angle, respectively. In terms of functional outcomes, the average range of motion improved significantly to 185°(173°, 210°) from a preoperative value of 99°(76°, 123°), and the Harris Hip Score increased from 35(26, 43) preoperatively to 70(63, 80) postoperatively ( P<0.05). During the follow-up, there were complications for two cases of femoral stem loosening, one case of periprosthetic femoral fracture, one case of hip dislocation, and one case of acetabular component loosening with hip subluxation. Additionally, seven patients exhibited Trendelenburg gait. A total of five hips required revision surgery due to severe complications, including two cases of femoral stem loosening, one case of periprosthetic femoral fracture, one case of hip dislocation, and one case of acetabular component loosening with subluxation. Conclusions:Patients with KBD demonstrated significant early improvements in both radiological and functional outcomes following THA.

Objective:To analyze the types and characteristics of post-operative complications in colorectal cancer patients aged over 85 years undergoing laparoscopic surgery, and to summarize peri-operative management strategies.Methods:This was an observational study. Inclusion criteria: pathologically confirmed adenocarcinoma; tumor located in ileocecum, ascending colon, transverse colon, descending colon, sigmoid colon, or rectum; undergoing laparoscopic radical resection for colorectal cancer; complete clinical data. Exclusion criteria included distant metastasis, synchronous resection of multiple primary cancers, simultaneous liver metastasis surgery, and follow-up duration <1 month. A retrospective analysis was conducted on 191 patients of colorectal cancer patients aged over 85 years who underwent laparoscopic radical surgery in the General Surgery Department at Peking Union Medical College Hospital from January 2019 to January 2024. Among 191 patients, 107 patients (56.0%) had colon cancer and 84 (44.0%) rectal cancer. All patients received "home-based prehabilitation" and post-operative "enhanced recovery after surgery" protocols. Patient characteristics, peri-operative complication types, treatments, and outcomes were analyzed.Results:Post-operative complications occurred in 97 patients (50.8%), including 53 colon cancer patients (54.6%) and 44 rectal cancer patients (45.4%). Comorbidities existed in 88 patients (90.7%), with 93 patients (95.9%) classified as ASA II-III pre-operatively and 86 (88.7%) having nutritional risks. Surgical procedures included Dixon procedure (38 patients, 39.2%), right hemicolectomy (33 patients, 34.0%), sigmoidectomy (10 patients, 10.3%), and 17 patients (17.5%) received prophylactic stomas. Complication types comprised non-anastomotic infections (38 patients, 19.9%), intestinal flora disorder (26 patients, 13.6%), anastomotic/wound/stoma-related complications (16 patients, 8.4%), thrombotic/hemorrhagic events (6 patients, 3.1%), and others (11 patients, 5.8%). By Clavien-Dindo classification: Grade I (12 patients, 6.3%), Grade II (69 patients, 36.1%), Grade III (12 patients, 6.3%), and Grade IV (4 patients, 2.1%). Except for 5 patients (2.6%) requiring unplanned re-operation, all complications resolved with conservative treatment. The median duration of post-operative hospitalization was 9.5 days (7–13).Conclusion:Non-anastomotic infections and intestinal flora disorder constitute predominant complications after laparoscopic surgery in colorectal cancer patients aged over 85 years, mostly manageable with conservative treatment. Strengthened peri-operative management incorporating pre-operative prehabilitation and post-operative enhanced recovery after surgery protocols is crucial for patients aged over 85 years.

Objective:To analyze the types and characteristics of post-operative complications in colorectal cancer patients aged over 85 years undergoing laparoscopic surgery, and to summarize peri-operative management strategies.Methods:This was an observational study. Inclusion criteria: pathologically confirmed adenocarcinoma; tumor located in ileocecum, ascending colon, transverse colon, descending colon, sigmoid colon, or rectum; undergoing laparoscopic radical resection for colorectal cancer; complete clinical data. Exclusion criteria included distant metastasis, synchronous resection of multiple primary cancers, simultaneous liver metastasis surgery, and follow-up duration <1 month. A retrospective analysis was conducted on 191 patients of colorectal cancer patients aged over 85 years who underwent laparoscopic radical surgery in the General Surgery Department at Peking Union Medical College Hospital from January 2019 to January 2024. Among 191 patients, 107 patients (56.0%) had colon cancer and 84 (44.0%) rectal cancer. All patients received "home-based prehabilitation" and post-operative "enhanced recovery after surgery" protocols. Patient characteristics, peri-operative complication types, treatments, and outcomes were analyzed.Results:Post-operative complications occurred in 97 patients (50.8%), including 53 colon cancer patients (54.6%) and 44 rectal cancer patients (45.4%). Comorbidities existed in 88 patients (90.7%), with 93 patients (95.9%) classified as ASA II-III pre-operatively and 86 (88.7%) having nutritional risks. Surgical procedures included Dixon procedure (38 patients, 39.2%), right hemicolectomy (33 patients, 34.0%), sigmoidectomy (10 patients, 10.3%), and 17 patients (17.5%) received prophylactic stomas. Complication types comprised non-anastomotic infections (38 patients, 19.9%), intestinal flora disorder (26 patients, 13.6%), anastomotic/wound/stoma-related complications (16 patients, 8.4%), thrombotic/hemorrhagic events (6 patients, 3.1%), and others (11 patients, 5.8%). By Clavien-Dindo classification: Grade I (12 patients, 6.3%), Grade II (69 patients, 36.1%), Grade III (12 patients, 6.3%), and Grade IV (4 patients, 2.1%). Except for 5 patients (2.6%) requiring unplanned re-operation, all complications resolved with conservative treatment. The median duration of post-operative hospitalization was 9.5 days (7–13).Conclusion:Non-anastomotic infections and intestinal flora disorder constitute predominant complications after laparoscopic surgery in colorectal cancer patients aged over 85 years, mostly manageable with conservative treatment. Strengthened peri-operative management incorporating pre-operative prehabilitation and post-operative enhanced recovery after surgery protocols is crucial for patients aged over 85 years.