Objective:To explore the differences in clinical phenotype characteristics and auxiliary test results of Gerstmann-Str?ussler-Scheinker syndrome (GSS) patients in the same family with GSS carrying a P102L mutation in the PRNP gene. Methods:A family with GSS carrying a P102L mutation in the PRNP gene, which was identified and treated at the Department of Neurology, Xuanwu Hospital, Capital Medical University in January 2024 was collected. A comprehensive evaluation was conducted on the proband, including neuropsychological examination, imaging studies, electroencephalogram, cerebrospinal fluid (CSF) analysis, real-time quaking-induced conversion (RT-QuIC) assay of skin biopsy samples, and genetic testing. At the same time, a survey and analysis were conducted on the family members. Skin RT-QuIC, genetic testing and neuropsychological evaluation were performed on some of the family members. Results:Among the 4-generation members of the GSS family, there were 5 GSS patients, including the proband′s father, younger brother, uncle and cousin. The proband, her younger brother and cousin all carried the P102L mutation in the PRNP gene, and her son was a carrier of the P102L mutation in the PRNP gene. The proband was a 53 years old female, and had a typical GSS phenotype, with the initial symptom of ataxia. The CSF 14-3-3 protein was negative and there were no abnormalities observed on her brain magnetic resonance imaging. The skin and CSF RT-QuIC test results of the proband were both negative. The cousin of the proband had a typical GSS phenotype, and his skin RT-QuIC test result was negative. The younger brother of the proband had a GSS phenotype of Creutzfeldt-Jakob disease type, with the initial symptom of rapidly progressing dementia and a positive skin RT-QuIC test result. The first symptoms of the proband′s father and uncle were both ataxia, and they had passed away without undergoing genetic testing. The son of the proband was a carrier of the P102L mutation in the PRNP gene and had no clinical symptoms. Conclusion:Different family members in the same GSS family may exhibit different clinical phenotypes, and GSS with different phenotypes have differences in RT-QuIC results.

Objective:To explore the differences in clinical phenotype characteristics and auxiliary test results of Gerstmann-Str?ussler-Scheinker syndrome (GSS) patients in the same family with GSS carrying a P102L mutation in the PRNP gene. Methods:A family with GSS carrying a P102L mutation in the PRNP gene, which was identified and treated at the Department of Neurology, Xuanwu Hospital, Capital Medical University in January 2024 was collected. A comprehensive evaluation was conducted on the proband, including neuropsychological examination, imaging studies, electroencephalogram, cerebrospinal fluid (CSF) analysis, real-time quaking-induced conversion (RT-QuIC) assay of skin biopsy samples, and genetic testing. At the same time, a survey and analysis were conducted on the family members. Skin RT-QuIC, genetic testing and neuropsychological evaluation were performed on some of the family members. Results:Among the 4-generation members of the GSS family, there were 5 GSS patients, including the proband′s father, younger brother, uncle and cousin. The proband, her younger brother and cousin all carried the P102L mutation in the PRNP gene, and her son was a carrier of the P102L mutation in the PRNP gene. The proband was a 53 years old female, and had a typical GSS phenotype, with the initial symptom of ataxia. The CSF 14-3-3 protein was negative and there were no abnormalities observed on her brain magnetic resonance imaging. The skin and CSF RT-QuIC test results of the proband were both negative. The cousin of the proband had a typical GSS phenotype, and his skin RT-QuIC test result was negative. The younger brother of the proband had a GSS phenotype of Creutzfeldt-Jakob disease type, with the initial symptom of rapidly progressing dementia and a positive skin RT-QuIC test result. The first symptoms of the proband′s father and uncle were both ataxia, and they had passed away without undergoing genetic testing. The son of the proband was a carrier of the P102L mutation in the PRNP gene and had no clinical symptoms. Conclusion:Different family members in the same GSS family may exhibit different clinical phenotypes, and GSS with different phenotypes have differences in RT-QuIC results.

Objective:To explore medical students'cognition,current status,and demands regarding practical skills training in a medical college under the background of new medical science.Methods:A cross-sectional survey was conducted among medical undergraduates from Year 1 to Year 5 in a medical college.A self-designed scale was used to investigate the cognition,current status,and demands related to new medical education concepts.Pearson correlation analysis was used to analyze the relationship between satisfaction with practical teaching facilities and variables including understanding of new medical education,curriculum design,and proportion of practical teaching.Multiple linear regression was conducted to investigate the factors influencing satisfaction.Results:Among 1 253 participants,70.71%acquired new medical science information through online media,while 52.99%learned about it via school courses.Over 80%endorsed"whole-cycle health management"(preventive care before disease onset 91.94%,disease treatment 81.72%,and post-illness rehabilitation 82.60%).Experimental courses(85.16%),clinical skills training(66.88%),and social practice(66.24%)were primary practical forms,but the participation rates of research practice(40.78%)and innovation/entrepreneurship practice(34.72%)was comparatively lower.The satisfaction with practical teaching was positively correlated with adequacy of faculty guidance(r=0.707)and curriculum rationality(r=0.522)(P＜0.01).The multiple linear regression analysis showed that faculty guidance(β=0.436)and the proportion of practical teaching(β=0.319)were the key predictors of satisfaction.Conclusion:Medical students'cognition of practical skills training,curriculum optimization,and adequacy of faculty guidance significantly influence satisfaction with practical teaching,with faculty guidance and rationality of practical process playing key roles.

Objective:To explore medical students'cognition,current status,and demands regarding practical skills training in a medical college under the background of new medical science.Methods:A cross-sectional survey was conducted among medical undergraduates from Year 1 to Year 5 in a medical college.A self-designed scale was used to investigate the cognition,current status,and demands related to new medical education concepts.Pearson correlation analysis was used to analyze the relationship between satisfaction with practical teaching facilities and variables including understanding of new medical education,curriculum design,and proportion of practical teaching.Multiple linear regression was conducted to investigate the factors influencing satisfaction.Results:Among 1 253 participants,70.71%acquired new medical science information through online media,while 52.99%learned about it via school courses.Over 80%endorsed"whole-cycle health management"(preventive care before disease onset 91.94%,disease treatment 81.72%,and post-illness rehabilitation 82.60%).Experimental courses(85.16%),clinical skills training(66.88%),and social practice(66.24%)were primary practical forms,but the participation rates of research practice(40.78%)and innovation/entrepreneurship practice(34.72%)was comparatively lower.The satisfaction with practical teaching was positively correlated with adequacy of faculty guidance(r=0.707)and curriculum rationality(r=0.522)(P＜0.01).The multiple linear regression analysis showed that faculty guidance(β=0.436)and the proportion of practical teaching(β=0.319)were the key predictors of satisfaction.Conclusion:Medical students'cognition of practical skills training,curriculum optimization,and adequacy of faculty guidance significantly influence satisfaction with practical teaching,with faculty guidance and rationality of practical process playing key roles.

Objective To analyze the current status and influencing factors of occupational burnout among medical staff in Dongguan City. Methods A total of 1 007 medical staff from eight hospitals in Dongguan City were selected as the study subjects using the stratified sampling method. The Maslach Burnout Inventory-Human Service Survey and Moral Injury Symptom Scale (Healthcare Professionals Edition) were used to assess occupational burnout and moral injury among these study subjects. Binary logistic regression analysis was conducted to identify the influencing factors of occupational burnout. Results The detection rate of occupational burnout among the medical staff was 46.2%, and the detection rate of moral injury was 48.1%. The result of binary logistic regression analysis showed that after controlling for confounding factors such as age, marriage status, educational level, religious belief, professional title, and hospital characteristics, male medical staff had a higher risk of occupational burnout than female staff (P<0.01). Medical staff with ≤10 years of work experience had a higher risk of occupational burnout than those with >10 years of work experience(P<0.01). Additionally, medical staff with moral injury had a higher risk of occupational burnout than those without moral injury (P<0.01). Conclusion Occupational burnout is relatively common among medical staff in Dongguan City and is influenced by factors such as gender, working years, moral injury, and others.

Objective:To analyze the clinical application value of a novel magnetic navigation ultrasound (MNU) combined with digital subtraction angiography (DSA) dual-guided percutaneous transhepatic biliary drainage (PTCD) through the right hepatic duct for the treatment of malignant obstructive jaundice.Methods:Randomized controlled trial. The clinical data of 64 patients with malignant obstructive jaundice requiring PTCD through the right hepatic duct at the Hepatobiliary Center of the First Affiliated Hospital of Nanjing Medical University (Jiangsu Province People′s Hospital) from December 2018 to December 2021 were retrospectively analyzed. The MNU group ( n=32) underwent puncture guided by a novel domestic MNU combined with DSA, and the control group ( n=32) underwent puncture guided by traditional DSA. The operation time, number of punctures, X-ray dose after biliary stenting as shown by DSA, patients' tolerance of the operation, success rate of the operation, pre- and post-operative total bilirubin, and incidence of postoperative complications were compared between the two groups. Results:The operation time of the MNU group was significantly shorter than that of the control group [(17.8±7.3) vs. (31.6±9.9) min, t=-6.35, P=0.001]; the number of punctures in the MNU group was significantly lower [(1.7±0.6) vs. (6.3±3.9) times, t=-6.59, P=0.001]; and the X-ray dose after biliary stenting as shown by DSA in the MNU group was lower than that in the control group [(132±88) vs. (746±187) mGy, t=-16.81, P<0.001]; Five patients in the control group were unable to tolerate the operation, and two stopped the operation, however all patients in the MNU group could tolerate the operation, and all completed the operation, with a success rate of 100% (32/32) in the MNU group compared to 93.8%(30/32) in the control group; the common complications of PTCD were biliary bleeding and infection, and the incidence of biliary bleeding (25.0%, 8/32) and infection (18.8%, 6/32) in the MNU group was significantly lower than that in the control group, 53.1% (17/32) and 28.1% (9/32), respectively. Conclusion:Magnetic navigation ultrasound combined with DSA dual-guided PTCD through the right biliary system for the treatment of malignant obstructive jaundice is safe and feasible.

Objective To establish a weightlessness simulation animal model using miniature pigs, leveraging the characteristic of multiple systems’ tissue structures and functions similar to those of humans, and to observe pathophysiological changes, providing a new method for aerospace research. Methods Nine standard-grade miniature pigs were selected and randomly divided into an experimental group (n=7) and a control group (n=2). The experimental group was fixed using customized metal cages, with canvas slings suspending their hind limbs off the ground, and the body positioned at a -20° angle relative to the ground to simulate unloading for 30 days (24 hours a day). Data on body weight, blood volume, and blood biochemistry indicators were collected at different time points for statistical analysis of basic physiological changes. After the experiment, the miniature pigs were euthanized and tissue samples were collected for histopathological observation of the cardiovascular, skeletal and muscle systems HE and Masson staining. Statistical analysis was also conducted on the thickness of arterial vessels and the diameter of skeletal muscle fibers. Additionally, western blotting was employed to detect the expression levels of skeletal muscle atrophy-related proteins, including muscle-specific RING finger protein 1 (MuRf-1) and muscle atrophy F-box (MAFbx, as known as Atrogin-1), while immunohistochemistry was used to detect the expression of glial fibrillary acidic protein (GFAP), an indicator of astrocyte activation in the brain, reflecting the pathophysiological functional changes across systems. Results After hindlimb unloading, the experimental group showed significant decreases in body weight (P<0.001) and blood volume (P<0.01). During the experiment, hemoglobin, hematocrit, and red blood cell count levels significantly decreased (P<0.05) but gradually recovered. The expression levels of alanine aminotransferase and γ-glutamyltransferase initially decreased (P<0.05) before rebounding, while albumin significantly decreased (P<0.001) and globulin significantly increased (P<0.01). Creatinine significantly decreased (P<0.05). The average diameter of gastrocnemius muscle fibers in the experimental group significantly shortened (P<0.05), with a leftward shift in the distribution of muscle fiber diameters and an increase in small-diameter muscle fibers. Simultaneously, Atrogin-1 expression in the gastrocnemius and paravertebral muscles significantly increased (P<0.05). These changes are generally consistent with the effects of weightlessness on humans and animals in space. Furthermore, degenerative changes were observed in some neurons of the cortical parietal lobe, frontal lobe, and hippocampal regions of the experimental group, with a slight reduction in the number of Purkinje cells in the cerebellar region, and a significant enhancement of GFAP-positive signals in the hippocampal area (P<0.05). Conclusion Miniature pigs subjected to a -20° angle hind limb unloading for 30 days maybe serve as a new animal model for simulating weightlessness, applicable to related aerospace research.

Objective To observe and evaluate the protective effect of desflurane post-conditioning on myocardial injury during cardiopulmonary bypass and its influence on patients'postoperative recovery.Methods A total of 200 patients in need of cardiac surgery were selected as the experimental subjects,who were aged from 20 to 65 years old,and divided into ASA Ⅱ-Ⅲ and NYHA Ⅱ-Ⅲ by endotracheal intubation and extracorporeal circulation method under general anesthesia.The patients were randomly divided into desflurane post-treatment group(experi-mental group,group D)and control group(group C)after selection.With the successive opening of the aorta and superior vena cava,group D were given 5%desflurane by inhalation with mechanical ventilation.While group C inhaled pure oxygen without inhaling desflurane.The depth of intraoperative anesthesia was maintained between 40～50 during the operation.Radial artery blood was collected from patients in 24 h before surgery(T0),immediately after intubation(T1),and 1 h(T2),6 h(T3),12 h(T4)and 24 h(T5)after aortic opening to achieve the determi-nation of troponin I(cTnI)and creatine kinase isoenzyme MB(CK-MB).On the premise of obtaining the informed consent of the patient,about 50 mg of right atrial appendage tissue was collected before aortic intubation(T1.5)and 1 hour after aortic opening(T2)to determine the apoptosis rate.Results(1)cTnI in group C at the time of T2,T3,T4 and T5 was apparently higher than group D(P<0.05).(2)CK-MB in group C at the time of T3 was apparently higher than group D(P<0.05).(3)The myocardial tissue results showed that there was a lower apoptosis rate in experimental group at the time of T2(P<0.05).Conclusion Desflurane post-conditioning has a myocardial protec-tive effect during cardiac surgery under cardiopulmonary bypass.

Objective To form the in vitro diagnostic reagents(IVD)selection and optimization management plan and management database,and optimize the IVD management work.Methods Through the analysis of the policy background and the current management status of the IVD clinical laboratory in Beijing Hospital,the selection and optimization management plan for existing and newly applied laboratory IVD was formulated based on clinical needs.The IVD of the whole hospital was selected and optimized by combing projects,open bidding,innovative quotation methods,on-site review and other steps.The IVD management database and qualification database of Beijing Hospital was formed,and the effect from the aspects of compliance,work efficiency and cost control was evaluated.Results The selection and optimization of 1 737 IVDs in the whole hospital were completed according to the formulated IVD selection and optimization management plan.The implementation of management plan improved the work efficiency.The content of review in an average meeting was increased by more than 10 times,and the frequency of new applications for IVD access was accelerated,while the IVD cost was reduced,and the average purchase amount of the whole hospital was reduced by about 15％.The prices of key IVD products were lower after selection than before selection,and the difference was significant(t=2.493,P=0.034).Conclusion The management scheme of IVD selection and optimization was feasible,and it could achieve the goal of ensuring compliance,improving efficiency and reducing costs.

Objective:To explore the cost adjustment model based on age coefficient and to make the payment standard more consistent with the actual resource consumption in clinical settings partially address the issue of targeting elderly patients that may arise after the implementation of DRG-PPS payment.Methods:The study analyzed data from all discharged patients in a hospital in 2022.Case rate coefficients were calculated for different age groups(young-middle-aged group, early elderly group, and high-aged elderly group)using the DRG(Diagnosis-related Group)rate formula to adjust the payment standard.The statistical significance of the difference between the actual cost and the current payment standard(within-group difference)was determined using the paired t-test in SPSS software.The Wilcoxon rank sum test was then used to determine the statistical significance of the difference between the actual cost and the adjusted payment standard(between-group difference).To assess the applicability of the age coefficient adjustment model, 11 disease groups were selected, and the Wilcoxon rank sum test was used to determine if there was a statistical difference between the adjusted and non-adjusted groups.The effectiveness of the adjustment was judged based on the standard deviation. Results:There was no significant difference between the actual hospitalization costs and the current standards(Group 1)and the actual hospitalization costs and the adjusted payment standards(Group 2)( P values were 0.928 and 0.949, both greater than or equal to 0.05).The results of the rank sum test showed a statistical difference between the two groups( P value of less than 0.05).Group 1 had a median of -1 644.57, a mean of -999.04, a mean standard error of 70.35, and a standard deviation of 15 024.62.Group 2 had a median of -1 641.88, a mean of -998.50, a mean standard error of 70.32, and a standard deviation of 15 019.24. Conclusions:Both the current and adjusted rates accurately reflect the true cost of hospitalization for patients.However, the adjusted standard is more closely aligned with the actual costs and the model remains valid.partially address the issue of targeting elderly patients that may arise after the implementation of DRG-PPS payment.