Objective To preliminarily investigate the safety and efficacy of donor pancreas needle biopsy in simultaneous pancreas-kidney transplantation. Methods Clinical data of 7 cases undergoing donor pancreas biopsy were collected retrospectively. All cases underwent donor pancreas biopsy before or during simultaneous pancreas-kidney transplantation. Frozen section or paraffin sectioning techniques were used for tissue preparation, and hematoxylin-eosin and Masson staining were performed to histologically evaluate the donor pancreas. The quality of donor pancreas was comprehensively assessed by combining histological findings with the donor's clinical data. Postoperative follow-up data of 5 simultaneous pancreas-kidney transplant recipients were collected to summarize the safety of donor pancreas biopsy and the prognosis of transplant recipients. Results The 7 pancreas donors were aged 28 to 62 years, with a body mass index ranging from 20.76 to 27.68 kg/m². Liver ultrasound indicated fatty liver in 3 cases, while pancreatic ultrasound did not reveal any significant abnormalities. Among them, biopsy was performed on 2 donors after completion of pancreatic procurement and processing, and the frozen section histology showed moderate acute pancreatitis changes (edema of acinar cells, necrosis and inflammatory cell infiltration). Combined with a serum amylase level elevated more than 3 times the upper limit of normal value, these two donor pancreases were finally discarded. The remaining 5 cases underwent biopsy immediately after pancreatic vascular anastomosis during simultaneous pancreas-kidney transplantation, and histological evaluation was performed on paraffin-embedded sections. No biopsy-related complications (such as bleeding, pancreatic fistula, etc.) occurred after transplantation. One recipient died of severe infection 2 months after transplantation, while the other 4 recipients were followed up for more than 5 years, with well-functioning transplant kidneys and pancreases. Conclusions Donor pancreas biopsy is relatively safe, and the risk of biopsy-related complications after transplantation is controllable. Comprehensive assessment of donor pancreas quality by combining histological evaluation with the donor's clinical indicators is conducive to improving the accuracy of donor pancreas selection and organ utilization.

The development of the rare disease discipline is a crucial pathway for enhancing the diagnosis and treatment of rare diseases, cultivating specialized professionals, and fostering technological innovation. Currently, China' rare disease discipline is accelerating its development driven by both policy and demand. However, it still faces multi-dimensional challenges, including an incomplete clinical management mechanism, a shortage of interdisciplinary talents, a weak scientific research system, and limited outreach capacity. To address these challenges, this paper proposes and constructs an integrated development system with clinical diagnosis and treatment as the foundation, talent cultivation as the engine, scientific research as the support, and disciplinary outreach capacity as the extension. Specific strategies include: enhancing clinical management through artificial intelligence-assisted diagnosis systems and multidisciplinary collaboration platforms; strengthening the talent pool through textbooks, curricula, and hierarchical training mechanisms; bolstering research collaboration and translational outcomes by leveraging international data-sharing platforms, national rare disease medical centers, the State Key Laboratory of Complex Severe and Rare Diseases, and the National Key Scientific Infrastructure for Translational Medicine; and expanding grassroots outreach and public awareness through the National Rare Disease Diagnosis and Treatment Collaboration Network, the National Rare Disease Quality Control Center, and integrated media communication channels. In the future, the rare disease discipline should further deepen the integration of medicine and engineering, expand international cooperation, focus on the translational closed loop, improve the regional collaboration network, so as to build a more resilient and dynamic disciplinary ecosystem, and ultimately achieve a comprehensive improvement in the diagnosis and treatment of rare diseases.

[摘 要] 目的：探究乌头酸酶2（ACO2）发生核转位的条件和作用机制并探讨ACO2核转位对肝癌细胞PLC/PRF/5增殖、迁移和侵袭的影响。方法：借助Human Protein Atlas（HPA）数据库分析ACO2在人肝癌组织中的表达与亚细胞定位；利用NLStradamus网站预测ACO2的潜在核定位信号（NLS），并通过基因截短技术构建NLS缺失的ACO2基因（ACO2 ∆NLS）；将野生型（ACO2WT）及突变型（ACO2ΔNLS）质粒转染至人肝癌PLC/PRF/5细胞，分别在常氧及低氧（1% O₂）条件下培养；采用免疫荧光染色技术，分析低氧条件影响ACO2入核的机制；通过EdU染色、划痕实验及Transwell实验评估PLC/PRF/5细胞的增殖、迁移与侵袭能力；借助WB检测胞核和胞质中ACO2的表达水平以及迁移、侵袭相关蛋白MMP2与MMP9表达水平的变化。结果：HPA数据库分析显示，ACO2在肝癌细胞的细胞核和细胞质中均呈高表达；免疫荧光染色和WB结果显示，低氧能够以NLS依赖的方式显著诱导ACO2发生核转位（均P < 0.01）；功能学实验显示，低氧诱导的ACO2核转位能进一步显著促进PLC/PRF/5细胞的增殖、迁移（均P < 0.05）和侵袭（均P < 0.05）能力。WB实验表明，ACO2核转位可上调迁移、侵袭相关蛋白MMP2与MMP9的表达水平（均P < 0.05）。结论：低氧能以NLS依赖的方式诱导ACO2发生核转位，从而增强PLC/PRF/5细胞的增殖、迁移和侵袭能力。

Objective To observe the effects of Hedysarum Polybotrys polysaccharide(HPS)on the glucose metabolism of small intestinal smooth muscle in rats with diabetic gastroparesis(DGP)of spleen qi deficiency syndrome;To explore its mechanism based on AMPK/GLUT4 signaling pathway.Methods Totally 72 male Wistar rats were randomly divided into 12 in the blank group and the remaining 60 rats were assigned to the model group.The DGP spleen qi deficiency syndrome model was replicated by intraperitoneal injection of streptozotocin+irregular feeding with high-fat and high sugar feed combined with swimming exhaustion method.The model rats were randomly divided into model group,metformin group and HPS high-,medium-and low-dosage groups.The metformin group was given 100 mg/kg metformin hydrochloride by gavage,while the HPS high-,medium-and low-dosage groups were given 200,100 and 50 mg/kg HPS by gavage,respectively.The blank group and model group were given purified water by gavage once a day for 8 consecutive weeks.The gastric emptying rate and small intestine propulsion rate in rats were detected,HE staining was used to observe the smooth muscle morphology of gastric antrum and ileal tissue,immunofluorescence staining was used to detect the expression of glucagon like peptide-1(GLP-1)in ileal tissue,ELISA was used to detect the contents of adiponectin(APN),glucagon(Glu)and insulin(INS)in serum,Western blot was used to detect the protein expressions of glucose transporter(GLUT)4,GLUT1,AMP-activated protein kinase(AMPK)and p-AMPK in ileal tissue.Results Compared with the blank group,the model group rats showed significantly increased random blood glucose,significantly decreased body mass,gastric emptying rate and small intestinal propulsion rate(P<0.01);the edema in the submucosal layer,loose arrangement of connective tissue,infiltration of a small number of lymphocytes,granulocytes and macrophages,reduced number of goblet cells in the ileal tissue,shedding of intestinal villous epithelial cells and widening of the gap between the submucosal layer and the lamina propria;the expression of GLP-1 in ileal tissue was significantly decreased(P<0.05),the contents of serum APN and INS were significantly decreased,and the content of Glu significantly increased(P<0.01),the expressions of GLUT4 and p-AMPK/AMPK proteins in ileal tissue were significantly decreased,while the expression of GLUT1 protein significantly increased(P<0.01).Compared with the model group,rats in metformin group and HPS high-dosage group showed a random decrease in blood glucose,an increase in body mass,gastric emptying rate,and small intestine propulsion rate(P<0.05,P<0.01);a more regular arrangement of gastric antral tissue cells,a reduction of shedding cells and edema,the smooth muscle structure of the ileal tissue was relatively intact,with evenly distributed cells and reduced infiltration of inflammatory cells;the expression of GLP-1 in ileal tissue increased,the contents of serum APN and INS increased,and the content of Glu decreased,the expressions of GLUT4 and p-AMPK/AMPK proteins in ileal tissue increased,while the expression of GLUT1 protein decreased(P<0.05,P<0.01).Conclusion HPS may up-regulate GLUT4 and down-regulate GLUT1 expression through activates AMPK,promotes glucose uptake and utilization by small intestinal smooth muscle,and improves glucose metabolism of DGP rats with spleen qi deficiency syndrome.

Objective To explore the optimal body position of patients during rigid laryngoscopy.Methods 120 outpatients who underwent rigid laryngoscopy from December 2023 to March 2024 were divided into the conventional body position group(58 cases)and the anterior tilted position group(62 cases)by the random number table method.Patients in the conventional body position group were examined in the conventional body position(upright lower head position)and patients in the anterior tilted position group were examined in the anterior tilted position(body tilted forward by 60° and jaw lifted).The vocal folds were scored on the Friedman scale,the visual analogue scale(VAS)score was used to evaluate the comfortable degree of patients during the examination,the incidence of gag reflex sensitivity and the rate of complete pharyngeal exposure were compared between the two groups of patients.Results In the conventional body position group,there were 26 cases of Friedman's difficult exposure and 32 cases of easy exposure.The VAS scores of difficult exposure and easy exposure patients were 2.5(1.0,5.8)and 1.0(1.0,3.0),respectively;The incidence of gag reflex sensitivity was 42.3%and 34.4%,respectively;and the rates of complete pharyngeal exposure were 76.9%and 100.0%,respectively.In the anterior tilted position group,there were 28 cases of Friedman difficult exposure and 34 cases of easy exposure.The VAS scores of patients with difficult and easy exposure were 1.5(1.0,7.0)and 2.0(1.0,4.0),respectively;The incidence of gag reflex sensitivity was 46.4%and 29.4%,respectively;And the rates of complete pharyngeal exposure were 82.1%and 91.2%,respectively;The differences were not statistically significant(P>0.05).Conclusion When rigid laryngoscopy is performed in the upright lower head position or anteriorly tilted position,there is no significant difference in the comfortable degree scores,incidence of gag reflex sensitivity,and the rate of complete pharyngeal exposure in the patients in the two positions,and the examiners can choose the appropriate position according to their own examination habits.

Objective To investigate the relationship between the levels of Versican(VCAN)and Cyclin D1(CCND1)in peripheral blood and the progression and prognosis of multiple myeloma(MM).Methods A total of 121 patients with MM(MM group)and 109 healthy volunteers(control group)were selected and admitted to the Department of Hematology of Suzhou Municipal Hospital from January 2018 to May 2022.According to the International Staging System(ISS),the patients with MM were divided into a stage I group(n=46),a stage II group(n=41),and a stage III group(n=34).Real time fluorescence quantitative PCR(RT-PCR)was used to detect the expression levels of VCAN mRNA and CCND1 mRNA in peripheral blood,the patients were followed up for 24 months after discharge to make statistics on the survival of MM patients.The VCAN mRNA and CCND1 mRNA expression in the peripheral blood of MM patients with different ISS was compared.Kaplan-Meier method was used to draw the survival curve of MM,and multi-factor COX proportional regression analysis was established to analyze the factors affecting the prognosis of MM patients.Results The expressions of VCAN mRNA(2.69±0.63)and CCND1 mRNA(3.29±0.63)in peripheral blood of MM group were higher than those of control group(1.32±0.46,1.53±0.37),and the differences were statistically significant(t=18.659,25.473,all P<0.05).The expressions of VCAN mRNA(3.05±0.31)and CCND1 mRNA(3.75±0.21)in peripheral blood of stage Ⅲ group were higher than those of stage Ⅱ(2.76±0.31,3.29±0.36)and stage Ⅰ groups(2.36±0.25,2.95±0.29),and the differences were statistically significant(t=7.626～16.831,all P<0.05).During the follow-up period,1 case was lost to follow-up,36 cases died and 84 cases survived.The overall survival rate of patients with high VCAN mRNA(58.06%)and CCND1 mRNA(57.14%)expression MM was lower than that of patients with low VCAN mRNA(82.76%)and CCND1 mRNA(84.21%),and the differences were statistically significant(χ2=8.727,10.820,all P<0.05).The age of the death group was higher than that of the survival group(t=3.020),ISS stage III,and bone marrow cells proportion≥60%,chromosome karyotype 1q21+proportion,peripheral blood VCAN mRNA and CCND1 mRNA i expression were all higher than those of the survival group(t/χ2=5.988～8.589),and the differences were statistically significant(all P<0.05),respectively.Multivariate COX risk ratio analysis,ISS stage III,high expression of VCAN mRNA and CCND1 mRNA were risk factors for death in MM patients during follow-up(Wald χ2=10.672,5.682,5.969,all P<0.05).Conclusion The expression of VCAN mRNA and CCND1 mRNA in peripheral blood of MM patients is significantly increased,which is related to high clinical stage and poor prognosis.

Objective:To explore the risk assessment and intervention effect of WeChat platform-based health management in high-risk populations for cardiovascular diseases (CVD).Methods:It was a randomized controlled trial. A total of 480 individuals at high risk of CVD who underwent physical examinations at the Health Management Center of Sichuan Provincial People′s Hospital from February to April in 2023 were selected using a simple random sampling method. The participants were randomly assigned to either the intervention group or the control group (240 cases each) using a random number table. The control group received routine follow-up and health assessments, while the intervention group received an additional 12-month WeChat-based health management intervention. During the study, 28 participants were lost to follow-up, resulting in 227 participants in the intervention group and 225 in the control group being included in the final analysis. The 10-year CVD risk was assessed using the prediction for atherosclerotic cardiovascular disease risk in China (China-PAR) model, and psychological status was evaluated using the self-rating anxiety Scale (SAS) and the self-rating depression scale (SDS). Changes in health behaviors, adherence, life style, blood pressure, metabolic indicators, psychological status, and CVD risk were compared before and after the intervention in both groups to evaluate the intervention′s effectiveness.Results:Among the 452 high-risk participants analyzed, the intervention group included 227 individuals [mean age: (53.16±10.81) years; 117 males and 110 females], and the control group included 225 individuals [mean age: (52.60±10.25) years; 118 males and 107 females]. There was no significant differences in baseline characteristics between the two groups (all P>0.05). After 12 months of intervention, the intervention group showed significant improvements in medication adherence, intake of vegetables and fruits, exercise duration, sleep time, proportion of regular lifestyle, and high density lipoprotein cholesterol (HDL-C) levels, all of which were all higher than both the baseline values and those in the control group (all P<0.05). Conversely, the intervention group showed reductions in medical visit rate, smoking and drinking rates, high-salt diet, meat intake, body mass index (BMI), fasting blood glucose, systolic and diastolic blood pressure, low density lipoprotein cholesterol (LDL-C), total cholesterol, triglycerides, SAS and SDS scores when compared to the baseline values and those in the control group (all P<0.05). The proportions of participants with 10-year CVD risk levels of 10%-<20%, 20%-<30%, 30%-<40%, and ≥40% significantly decreased in the intervention group after intervention (18.94% vs 36.12%, 12.78% vs 26.43%, 7.93% vs 19.82%, 3.96% vs 17.63%), and were also significantly lower than those in the control group (18.94% vs 40.45%, 12.78% vs 30.67%, 7.93% vs 22.67%, 3.96% vs 16.89%) (all P<0.001). After 12 months, the intervention group showed significantly higher improvement rates in both medication adherence and non-medication-related compliance behaviors, including smoking, alcohol consumption, meat and salt intake, fruit and vegetable intake, exercise duration, sleep duration, and lifestyle regularity, when compared to those in the control group (16.74% vs -3.11%, 14.54% vs -0.89%, 16.74% vs -0.44%, 57.71% vs 8.44%, 21.15% vs -0.44%, 56.83% vs -6.67%, 51.54% vs -3.56%, 60.79% vs -7.11%, 26.87% vs -13.78%, 22.91% vs -1.78%) (all P<0.001). Conclusion:The WeChat platform-based health management intervention can effectively improve the behavioral patterns, compliance, control of CVD risk factors and psychological status of high-risk populations for CVD, and help reduce their 10-year risk of CVD.

Objective:To analyze the efficacy of phantom-less quantitative computer tomography (PL-QCT) for the diagnosis of osteoporosis in patients with lumbar degenerative diseases.Methods:From October 2021 to October 2023, a total of 1 248 patients with lumbar degenerative disease who did not receive anti-osteoporosis treatment in the Department of Spine Surgery, Tianjin Hospital were retrospectively analyzed. There were 520 males and 728 females, aged 62.31±9.37 years (range, 40-87 years), height 1.66±0.08 m (range, 1.43-1.89 m), weight 69.04±8.27 kg (range, 49-93 kg). The mean body mass index was 26.11±3.67 kg/m 2 (range, 14.40-37.11 kg/m 2). Dual-energy X-ray absorptiometry (DXA) and PL-QCT were used to diagnose osteoporosis, and the detection rates of the two diagnostic methods were compared. The receiver operating characteristic (ROC) curve of PL-QCT for the diagnosis of osteoporosis was drawn, the area under the curve (AUC) and 95% confidence interval (CI), sensitivity and specificity were calculated. Results:Among 1 248 patients with lumbar degenerative diseases, 626 (50.2%) were diagnosed as osteoporosis by PL-QCT, 423(33.9%) were diagnosed by spine DXA, 488(39.1%) were diagnosed by hip DXA and 539 patients(43.2%) were diagnosed by dual-site DXA. The detection rate of osteoporosis of PL-QCT was higher than that of spine DXA (χ 2=193.557, P<0.001), hip DXA (χ 2=322.201, P<0.001) and dual-site DXA (χ 2=94.683, P<0.001), and the difference was statistically significant. Taking the diagnostic results of spinal DXA for osteoporosis as a reference, the ROC curve of PL-QCT for the diagnosis of osteoporosis showed a sensitivity of 79%, a specificity of 81%, and an AUC and 95% CI of 0.82(0.79, 0.85). Taking the diagnostic results of hip DXA for osteoporosis as a reference, the ROC curve of PL-QCT for the diagnosis of osteoporosis showed a sensitivity of 85%, a specificity of 55%, and an AUC and 95% CI of 0.75(0.71, 0.78). Taking the diagnostic results of two-site DXA for osteoporosis as a reference, the ROC curve of PL-QCT for the diagnosis of osteoporosis showed a sensitivity of 72%, a specificity of 75%, and an AUC and 95% CI of 0.81(0.78, 0.83). Conclusion:Compared with DXA, PL-QCT has a higher detection rate of osteoporosis in patients with degenerative lumbar spine disease and good diagnostic efficacy.

Objective:To investigate the clinical efficacy of lumbar lateral interbody fusion (LLIF) versus posterior lumbar interbody fusion (PLIF) in the treatment of severe lumbar spinal stenosis.Methods:The data of patients with severe lumbar spinal stenosis who underwent LLIF or PLIF from February 2019 to December 2023 were retrospectively analyzed. There were 30 patients in the LLIF group, 10 males and 20 females, aged 62.7±5.6 years (range, 53-74 years), including 21 cases of single segment and 9 cases of double segment. There were 46 patients in the PLIF group, including 20 males and 26 females, aged 63.2±8.4 years (range, 43-75 years), 40 cases of single segment and 6 cases of double segment. The visual analogue scale (VAS), Oswestry disability index (ODI), intervertebral space height, intervertebral foramen height and postoperative complications were compared between the two groups.Results:All patients were followed up for an average of 21.3±6.4 months (range, 12-32 months). The intraoperative blood loss in the LLIF group was 112.2±76.9 ml, which was significantly lower than 193.9±88.2 ml in the PLIF group ( P<0.05). The VAS scores of back pain and leg pain after operation were significantly lower than those before operation in the two groups ( P<0.05). There was no statistically significant difference between groups in back pain VAS scores at preoperative, 6 months postoperative, and final follow-up ( P>0.05); the back pain VAS score at 1 month postoperatively in the LLIF group was 1.6±1.2, which was less than 2.8±0.7 in the PLIF group ( P<0.05). There was no statistically significant difference between groups in leg pain VAS scores at preoperative, 1 month postoperative, and 6 months postoperative ( P>0.05); the leg pain VAS score at the final follow-up in the LLIF group was 1.2±1.5, which was smaller than 1.8±1.0 in the PLIF group ( P<0.05). The postoperative ODI was smaller than the preoperative one in both groups, and the difference was statistically significant ( P<0.05); the preoperative, 1-month postoperative, 6-month postoperative, and final follow-up ODIs in the LLIF group were 45.7%±16.0%, 17.9%±12.0%, 16.2%±11.6%, and 15.7%±11.7%, and those in the PLIF group were 47.9%±15.4%, 20.1%±9.3%, 16.9%±10.6%, and 14.6%±11.0% in the PLIF group, and the difference between the groups was not statistically significant ( P>0.05). The preoperative intervertebral space height in the LLIF group was 10.6±2.0 mm, which was smaller than that in the PLIF group 11.8±2.2 mm ( P<0.05). The intervertebral space heights in the immediate postoperative period and at the final follow-up were 13.3±2.3 mm and 12.3±2.2 mm in the LLIF group and 13.7±1.7 mm and 13.0±1.9 mm in the PLIF group ( P>0.05). The preoperative intervertebral foraminal height in the LLIF group was 18.0±3.2 mm, which was smaller than that of 19.7±2.4 mm in the PLIF group ( P<0.05); the intervertebral foraminal heights in the immediate postoperative period and at the final follow-up were 21.4±2.5 mm and 20.2±2.4 mm in the LLIF group, and in the PLIF group were 20.7±2.4 mm and 19.7±2.6 mm in the PLIF group ( P>0.05). In the LLIF group, 2 cases had femoral nerve injury and 2 cases had transient back pain after operation. There were 2 cases of cerebrospinal fluid leakage, 1 case of screw loosening, and 2 cases of deep vein thrombosis in the PLIF group. In the PLIF group, 2 patients underwent revision, including 1 case due to cage displacement and 1 case due to screw malposition. The fusion settling rate was 21% (8/39) in the LLIF group and 12% (6/52) in the PLIF group ( P>0.05). Conclusion:Both LLIF and PLIF can effectively restore the intervertebral height, improve the lumbar function and the symptoms of back and leg pain in the treatment of severe lumbar spinal stenosis.