Objective To explore the anesthesia management experience in the interventional treatment of pediatric congenital heart diseases (CHD) percutaneously guided by transthoracic echocardiography (TTE) on a mobile operating platform. Methods From March to July 2023, a total of 13 patients from remote areas underwent interventional treatment for CHD on the mobile operating platform of Fuwai Yunnan Cardiovascular Hospital. Patients who received non-tracheal intubation general anesthesia were retrospectively included. Results Eight children who had difficulty cooperating with the surgery (due to young age, emotional tension, crying) received monitored anesthesia care with local anesthesia supplemented by sedative and analgesic drugs while maintaining spontaneous breathing under the monitoring and management of an anesthesiologist (i.e., non-tracheal intubation general anesthesia). Among them, there were 5 males and 3 females, with an age of (6.95±3.29) years and a body weight of (19.50±6.04) kg. Through transthoracic echocardiography, they were diagnosed with atrial septal defect (6 patients), residual shunt after patent ductus arteriosus ligation (1 patient), and severe pulmonary valve stenosis (1 patient). The surgery proceeded smoothly, with satisfactory anesthesia and surgical effects, complete analgesia, and satisfactory postoperative recovery. There was 1 patient of body movement and 1 patient of respiratory depression during the operation, and both patients completed the surgery successfully after treatment. All children had no serious surgery- and anesthesia-related complications. The anesthesia time was 40.5 (34.5, 47.5) min, the surgery time was 39.0 (33.0, 45.5) min, and the recovery time was 43.0 (28.0, 52.5) min Conclusion Interventional surgery for CHD guided by TTE at a mobile platform is a minimally invasive approach without radiation damage. Non-tracheal intubation general anesthesia with spontaneous breathing can be safely and effectively implemented in children who cannot cooperate.

Objective: To investigate the effects of RING 1 and YY1 binding protein (RYBP), a member of the polycomb group (PcG), on bladder cancer cell proliferation and invasion, as well as the underlying mechanisms involved, so as to provide reference for the prevention and treatment of bladder cancer. Methods: Overexpressing and knocking down of RYBP were achieved in bladder cancer cell lines (T24, UM-UC-3, and 5637) via plasmids or siRNAs.Cell proliferation was assessed via thiazolyl blue (MTT) and colony formation assays, whereas migration was evaluated via scratch and Transwell assays.Changes in epithelial-mesenchymal transition (EMT) markers and other related proteins were examined with Western blotting. Results: RYBP overexpression significantly inhibited bladder cancer cell proliferation, invasion, and migration, whereas RYBP knockdown promoted these behaviors.Western blotting results revealed that RYBP overexpression downregulated the expressions of EMT markers N-cadherin, Vimentin, and Slug, but upregulated the expression of E-cadherin.Conversely, RYBP knockdown upregulated the expressions of N-cadherin, Vimentin, and Slug, while reducing the expression of E-cadherin. Conclusion: RYBP appears to inhibit the proliferation and migration of bladder cancer cells via the EMT pathway, indicating its potential application in bladder cancer therapies.

Objective:To analyze the application of Sengstaken-Blakemore tubes combined with endoscopic intervention on the prognosis of patients with acute esophageal and gastric variceal rupture and bleeding due to portal hypertension in liver cirrhosis, and to explore the impact of Sengstaken-Blakemore tubes combined with endoscopic intervention on the prognosis of patients.Methods:A retrospective study included patients with liver cirrhosis who visited the Zhongshan Hospital, Fudan University from January 2023 to July 2024 due to acute upper gastrointestinal bleeding, had no response to drug treatment and unstable hemodynamics, and received the Sengstaken-Blakemore tubes compression hemostasis. According to whether endoscopic intervention was received or not, the patients were divided into the endoscopic intervention group and the non-endoscopic intervention group. The medication and subsequent treatment of the patients were analyzed, and the survival of the patients 28 days after bleeding was followed up. Kaplan-Meier survival analysis and Cox regression analysis were used to evaluate the effect of endoscopic intervention on the 28-day mortality rate of patients.Results:A total of 31 cases successfully had three-lumen two-cystic tubes indwelled. Among them, 8 cases further received endoscopic examination and intervention, and 23 cases did not receive endoscopic examination. During the 28-day follow-up after bleeding, a total of 20 cases died. The Kaplan-Meier survival analysis showed that the 28-day mortality rate in the endoscopic intervention group was significantly lower than that in the non-endoscopic intervention group (25.0% vs 78.3%, P=0.007). Multivariate Cox regression analysis showed that endoscopic intervention was an independent protective factor for 28-day mortality ( HR: 0.14, 95% CI: 0.03-0.63, P=0.01). In addition, the severity of bleeding and prothrombin time were also important factors affecting the prognosis of patients. Conclusions:The Sengstaken-Blakemore tubes, as an important hemostasis method for acute esophageal and gastric variceal rupture and bleeding, can buy time for subsequent endoscopic treatment, but the risk of complications is relatively high. Creating conditions for early endoscopic intervention as early as possible can significantly reduce the mortality rate of patients and improve the prognosis of patients with liver cirrhosis.

Objective:To analyze the application of Sengstaken-Blakemore tubes combined with endoscopic intervention on the prognosis of patients with acute esophageal and gastric variceal rupture and bleeding due to portal hypertension in liver cirrhosis, and to explore the impact of Sengstaken-Blakemore tubes combined with endoscopic intervention on the prognosis of patients.Methods:A retrospective study included patients with liver cirrhosis who visited the Zhongshan Hospital, Fudan University from January 2023 to July 2024 due to acute upper gastrointestinal bleeding, had no response to drug treatment and unstable hemodynamics, and received the Sengstaken-Blakemore tubes compression hemostasis. According to whether endoscopic intervention was received or not, the patients were divided into the endoscopic intervention group and the non-endoscopic intervention group. The medication and subsequent treatment of the patients were analyzed, and the survival of the patients 28 days after bleeding was followed up. Kaplan-Meier survival analysis and Cox regression analysis were used to evaluate the effect of endoscopic intervention on the 28-day mortality rate of patients.Results:A total of 31 cases successfully had three-lumen two-cystic tubes indwelled. Among them, 8 cases further received endoscopic examination and intervention, and 23 cases did not receive endoscopic examination. During the 28-day follow-up after bleeding, a total of 20 cases died. The Kaplan-Meier survival analysis showed that the 28-day mortality rate in the endoscopic intervention group was significantly lower than that in the non-endoscopic intervention group (25.0% vs 78.3%, P=0.007). Multivariate Cox regression analysis showed that endoscopic intervention was an independent protective factor for 28-day mortality ( HR: 0.14, 95% CI: 0.03-0.63, P=0.01). In addition, the severity of bleeding and prothrombin time were also important factors affecting the prognosis of patients. Conclusions:The Sengstaken-Blakemore tubes, as an important hemostasis method for acute esophageal and gastric variceal rupture and bleeding, can buy time for subsequent endoscopic treatment, but the risk of complications is relatively high. Creating conditions for early endoscopic intervention as early as possible can significantly reduce the mortality rate of patients and improve the prognosis of patients with liver cirrhosis.

Objective:To evaluate main performance indexes and application value of a domestic blood nucleic acid test system for blood screening,so as to ensure the safety of blood screening in the system of blood bank.Methods:Twenty samples were selected from Langfang Center Blood Bank in January 2022,and 6703 blood specimens of voluntary blood donors from Langfang Blood Bank between 2022 and 2023 were simultaneously selected.According to the requirements of the"Technical Operating Procedures for Blood Stations(2019 Edition)"and the standard for medical medicine industry"Nucleic Acid Amplification Test Reagents(kits)",the performances of stability,analytical specificity,sensitivity,precision,anti-interference ability and against cross-contamination ability of nucleic acid test system were verified for the analysis of clinical application.Results:The coincidence rate of the nucleic acid test system was 100%for 20 negative plasma samples.The coincidence rates of the sensitivities of Hepatitis B virus deoxyribonucleic acid(HBV DNA),Hepatitis C virus ribonucleic acid(HCV RNA)and Human immunodeficiency virus ribonucleic acid(1+2)(HIV 1+2 RNA)were respectively 100%,and percentages of the coefficient of variation(CV%)of the precision of them were respectively 1.57%,0.75%and 1.49%.When the system conducted nucleic acid test,the hemolytic plasma with a hemoglobin concentration level of 400mg/dl and the blood specimen with triglyceride concentration levels of 3 000 mg/dl did not affect the analysis performances of the standard substances of HBV-DNA(9.0 IU/ml),HCV-RNA(30.0 IU/ml)and HIV-RNA(135.0 IU/ml)of low concentration level.There were not cross-contaminations when 10 positive samples at high concentration(1 000 IU/ml)were cross-lined with 11 negative samples to conduct test.A total of 16(0.24%)reactive specimens were checked out from 6 703 specimens by Nucleic Acid Test(NAT)Technique under mixed mode.Conclusion:Nucleic acid test system must conduct performance verification before it is put into use,so as to ensure the safety of blood screening.The currently domestic nucleic acid test system can meet the requirements of screening blood safety.The performance verification of nucleic acid test system has great value in ensuring the safety of blood screening.

Objective:To explore the predictive value of multimodal ultrasound (MMU) for upper urinary tract damage (UUTD) in children with neurogenic bladder (NB).Methods:This was a case-series study.From January 2022 to December 2023, 87 children with NB admitted to the First Affiliated Hospital of Zhengzhou University were examined by MMU.During the filling of bladder, vesical volume (VV), bladder wall thickness (BWT), shear wave velocity (SWV) of the anterior wall, resistance index (RI), and vascularization index (VI) were measured.After the emptying of bladder, VV and anterior wall SWV were measured, and ultrasound bladder compliance (△C) was calculated.The anterior posterior diameter (APD) of the renal pelvis and ureteral diameter (UD) were also measured.According to the upper/lower urinary tract dysfunction classification criteria, NB children were divided into a UUTD group and a non-UUTD (NUUTD) group.The differences in clinical data and related examinations between the 2 groups were analyzed to screen out independent risk factors, and an early warning model was established based on these factors.The prediction efficiency of the model and the urodynamic study (UDS) for UUTD was compared.Results:(1) There were 47 children in the UUTD group and 40 children in the NUUTD group.There was no significant difference in gender, age and body mass index between the 2 groups (all P>0.05).(2) In the UUTD group, the total glomerular filtration rate (tGFR) was (70.45±16.17) mL/min, the incidence of hydronephrosis was 38.30%, and the incidence of ureteral dilatation was 23.40%.No morphological changes were found in the imaging examination of the urinary system in the NUUTD group, and its tGFR was (100.55±16.27) mL/min.There was a significant difference in tGFR between the 2 groups ( P<0.05).(3) The filling VV, emptying VV, mean BWT, filling SWV, emptying SWV, VI, mean RI, △C, maximum cystometric capacity (MCC), maximum detrusor pressure during filling (Pdet.max), bladder compliance (BC), and detrusor leak point pressure (DLPP) in the NUUTD group were (218.43±87.53) mL, (14.62±6.14) mL, (3.08±0.65) mm, (2.64±0.54) m/s, (1.88±0.41) m/s, (6.20±1.04)%, 0.68±0.04, (147.58±49.18) mm 2·s, (309.50±66.54) mL, (59.83±19.79) cmH 2O(1 cmH 2O=0.098 kPa), (25.80±10.34) mL/cmH 2O, and (34.00±6.16) cmH 2O, respectively.Compared with the NUUTD group, the UUTD group showed decreased filling VV [(167.21±85.63) mL], △C [(78.49±31.86) mm 2·s], VI [(5.01±0.81) %], MCC [(255.32±75.10) mL], and BC [(12.57±6.44) mL/cmH 2O], and increased emptying VV [(19.50±7.65) mL], mean BWT [(4.02±0.82) mm], filling SWV [(3.99±1.07) m/s], emptying SWV [(2.15±0.35) m/s], mean RI (0.70±0.08), Pdet.max [(75.94±26.23) cmH 2O], and DLPP [(48.13±12.61) cmH 2O] (all P<0.05).(4) The decreased BC ( OR=0.841, 95% CI: 0.562-1.256, P=0.045), △C ( OR=0.427, 95% CI: 0.202-0.904, P=0.026) and VI ( OR=0.461, 95% CI: 0.091-2.325, P=0.010) and the increased DLPP ( OR=1.139, 95% CI: 0.894-1.451, P=0.040), filling SWV ( OR=1.895, 95% CI: 1.082-3.321, P=0.007) and mean BWT ( OR=1.191, 95% CI: 0.850-1.669, P=0.025) were independent risk factors for UUTD.Among MMU parameters, filling SWV had the highest prediction efficiency for UUTD, with a threshold of 3.33 m/s, sensitivity of 72.34% and specificity of 92.50%. Conclusions:MMU can well predict the occurrence of UUTD in children with NB, and filling SWV has the highest prediction efficiency.

Objective To explore the effects of anticoagulation treatment to postoperative bleeding events in liver cirrhosis patients with gastric varices and portal vein thrombosis.Methods Patients diagnosed with portal vein thrombosis and treated with endoscopic cyanoacrylate injection at Zhongshan Hospital,Fudan University due to gastric variceal bleeding from January 2023 to December 2023 were included.Clinical data of patients were collected,and patients were divided into anticoagulant group and non-anticoagulant group based on whether anticoagulant treatment was performed within 48 h after treatment.Re-bleeding in patients was evaluated in 6 weeks of follow-up.Cox regression was used for univariate and multivariate analysis of re-bleeding within 6 weeks after treatment.Results A total of 160 patients were included,of whom 65 patients received anticoagulation treatment within 48 h after endoscopic cyanoacrylate injection.There were no statistically significant differences in gender,etiology of liver cirrhosis,dosage of cyanoacrylate and sclerosing agents,and Child-Pugh grading between the two groups.There was no statistically significant difference in re-bleeding rate within 6 weeks after treatment between the two groups(1.54％vs 1.05％,P=0.795).Multivariate Cox regression analysis showed that the large amount of cyanoacrylate was a risk factor for re-bleeding within 6 weeks after endoscopic treatment(HR=5.862,P=0.015).Conclusions For patients with liver cirrhosis,gastric varices,and portal vein thrombosis,who receive endoscopic cyanoacrylate injection,early anticoagulation does not increase the risk of re-bleeding after treatment,while a large amount of cyanoacrylate injection may be a risk factor for re-bleeding.However,sample should be increased to verify.

[Objective] To evaluate the efficacy and safety of zero-pressure percutaneous nephrolithotomy (PCNL) combined with hands-free pneumatic lithotripsy in the one-stage treatment of calculous pyonephrosis in the non-acute infection phase. [Methods] Clinical data of 15 patients' treated during Feb.2022 and Dec.2023 were retrospectively analyzed.Double-sheath negative pressure PCNL was adopted, with zero-pressure gravity perfusion where the perfusion height was at the level of the patients' kidney, not exceeding 20 cm above the kidney.Pneumatic lithotripsy was performed without the need to hold the device with hand. [Results] The median stone diameter was 28 (range 22—40) mm, with a median stone density of 1028 (range 765—1305) Hu.All operations were successful.The median operation time was 55 (range 35—90) min.Postoperative low fever (Clavien grade Ⅰ) occurred in 1 case, and high fever (Clavien grade Ⅱ) occurred in 1 case, with no complications of Clavien grade Ⅲ or above.The initial stone-free rate was 73.3%, and the stone-free rate after one month was 93.3%. [Conclusion] For patients with calculous pyonephrosis in the non-acute infection phase, one-stage treatment using zero-pressure PCNL combined with hands-free pneumatic lithotripsy demonstrates good efficacy and safety.

[Objective] To summarize the clinical manifestations, pathological characteristics, treatment options and prognosis of the world's first case of prostate ductal adenocarcinoma (PDA) complicated with prostate mucinous adenocarcinoma (PMA). [Methods] The clinical and follow-up data of a patient with PDA and PMA treated in Zhongnan Hospital of Wuhan University were retrospectively analyzed, and relevant literature in PubMed and CNKI databases was retrieved. [Results] The patient sought medical attention due to dysuria, frequent urination, urinary urgency and urinary pain for more than half a year, and was admitted to hospital 3 times in total.The initial diagnosis upon the first admission was benign prostatic hyperplasia complicated with prostatic abscess.After 2 months, the patient was readmitted due to worsening symptoms, received transurethral bladder neck incision+ cystoscopy+ transurethral plasma resection of the prostate, and postoperative diagnosis confirmed PDA with local PMA.Three months after surgery, the patient had bleeding.After auxiliary examinations revealed extensive metastasis, he received hormonal therapy.After 9 months, the patient died due to multiple lung metastases. [Conclusion] Early diagnosis has a significant impact on the treatment and prognosis, but there have been no previous reports of PDA combined with PMA, so the lack of specific biomarkers in the early stage has led to missed diagnosis or misdiagnoses.There is no specific treatment for PDA with PMA. Radical prostatectomy was not satisfactory in the treatment of this case.

OBJECTIVE: To report on a rare case of Neurofibromatosis type 2 (NF2) manifesting as oculomotor nerve palsy and explore its genetic basis. METHODS: A patient with NF2 who had presented at Beijing Ditan Hospital Affiliated to Capital Medical University on July 10, 2021 was selected as the study subject. Cranial and spinal cord magnetic resonance imaging (MRI) was carried out on the patient and his parents. Peripheral blood samples were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: MRI revealed bilateral vestibular Schwannomas, bilateral cavernous sinus meningiomas, popliteal neurogenic tumors, and multiple subcutaneous nodules in the patient. DNA sequencing revealed that he has harbored a de novo nonsense variant of the NF2 gene, namely c.757A>T, which has replaced a codon (AAG) encoding lysine (K) at position 253 with a stop codon (TAG). This has resulted in removal of the Merlin protein encoded by the NF2 gene from position 253 onwards. The variant was not found in public databases. Bioinformatic analysis suggested that the corresponding amino acid is highly conserved. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting+PP3+PP4). CONCLUSION The heterozygous nonsense variant c.757A>T (p.K253*) of the NF2 gene probably underlay the disease in this patient with an early onset, atypical but severe phenotype.
Male ; Humans ; Neurofibromatosis 2/genetics* ; Genes, Neurofibromatosis 2 ; Oculomotor Nerve Diseases/genetics* ; Computational Biology ; Genomics ; Mutation