摘要 目的 肝豆状核变性（又称Wilson病，WD）是由ATP7B基因突变引起的铜代谢紊乱疾病，常累及肝脏和中枢神经系统，严重者可致死。目前关于WD患者死亡原因及危险因素的系统研究较少。本研究旨在探讨WD患者的常见死亡原因及其危险因素。方法 回顾性分析2011年1月—2022年1月间安徽中医药大学神经病学研究所附属医院87例死亡WD患者和113例存活WD患者的临床资料，分析死亡原因，并通过Cox回归分析死亡危险因素。结果 死亡组年龄中位数为32.00（27.00，41.00）岁、病程中位数为144.00（72.00，228.00）个月，存活组年龄中位数为31.00（25.00，37.00）岁、病程中位数为132.00（72.00，214.00）个月。主要死亡原因包括肝衰竭（33例）、感染（23例）、猝死（8例）、消化道出血（8例）及肝癌（4例）等。死亡组与存活组在性别、起病形式、低铜饮食、肝脏B超分型、脾脏切除、临床分型、治疗方案及多项实验室指标（如白细胞计数、TB、Alb等）上差异有统计学意义（P<0.05）。多因素Cox回归显示，基线尿铜每增加100 μg/24 h（HR=1.22， 95%CI 1.11~1.34）与肝硬化（HR=2.55，95%CI 1.02~6.36）使死亡风险增加。结论 WD患者的主要死亡原因为肝衰竭，高水平基线尿铜和肝硬化显著增加死亡风险。尿铜水平达400 μg/24 h（参考值<100 μg/24 h）的患者死亡风险较基线增加3.8倍（HR=3.8，P<0.001）。研究结果为WD患者的预后评估和临床干预提供了重要依据。 Abstract Objective Hepatolenticular degeneration（also know as Wilson disease ，WD） is a copper metabolic disorder caused by ATP7B gene mutation， often involving the liver and the central nervous system and leading to death in severe cases. At present， there is a lack of systematic studies on the cause of death and related risk factors in WD patients. Therefore， this study aims to investigate the common causes of death and related risk factors in WD patients. Methods A retrospective analysis was performed for the clinical data of 87 WD patients who died and 113 WD patients who survived in our hospital from January 2011 to January 2022. The common causes of death in WD patients were analyzed， and the Cox proportional-hazards regression model analysis was used to investigate the risk factors for death. Results The death group had a median age of 32.00 （27.00，41.00） years and a median course of disease of 144.00 （72.00，228.00） months， and the survival group had a median age of 31.00 （25.00，37.00） years and a median course of disease of 132.00 （72.00，214.00） months. The main causes of death included liver failure （33 patients）， infection （23 patients）， sudden death （8 patients）， gastrointestinal bleeding （8 patients）， and liver cancer （4 patients）. There were significant differences between the death group and the survival group in sex， pattern of disease onset， low copper diet， liver ultrasound classification， splenectomy， clinical classification， treatment regimens， and various laboratory markers （such as white blood cell count， total bilirubin， and albumin）（P<0.05）. The multivariate Cox regression analysis showed that the risk of death was doubled for every 100 μg/24 h increase in urinary copper at baseline （HR=1.22，95%CI 1.11-1.34） and the presence of liver cirrhosis （HR=2.55，95%CI 1.02-6.36）. Conclusion Liver failure is the main cause of death in WD patients， and a high level of urinary copper at baseline and the presence of liver cirrhosis significantly increase the risk of death. The risk of death in patients with a urinary copper level of 400 μg/24 h （reference value<100 μg/24 h） was increased by 3.8 times compared with the value at baseline （HR=3.8，P<0.001）.The results of this study provide an important basis for the prognosis evaluation and clinical intervention of WD patients.

BACKGROUND: Delayed platelet engraftment is a common complication after umbilical cord blood transplantation (UCBT), and there is no standard therapy. Avatrombopag (AVA) is a second-generation thrombopoietin (TPO) receptor agonist (TPO-RA) that has shown efficacy in immune thrombocytopenia (ITP). However, few reports have focused on its efficacy in patients diagnosed with thrombocytopenia after allogeneic hematopoietic stem cell transplantation (allo-HSCT). METHODS: We conducted a retrospective study at the First Affiliated Hospital of the University of Science and Technology of China to evaluate the efficacy of AVA as a first-line TPO-RA in 65 patients after UCBT; these patients were compared with 118 historical controls. Response rates, platelet counts, megakaryocyte counts in bone marrow, bleeding events, adverse events and survival rates were evaluated in this study. Platelet reconstitution differences were compared between different medication groups. Multivariable analysis was used to explore the independent beneficial factors for platelet implantation. RESULTS: Fifty-two patients were given AVA within 30 days post-UCBT, and the treatment was continued for more than 7 days to promote platelet engraftment (AVA group); the other 13 patients were given AVA for secondary failure of platelet recovery (SFPR group). The median time to platelet engraftment was shorter in the AVA group than in the historical control group (32.5 days vs . 38.0 days, Z  = 2.095, P  = 0.036). Among the 52 patients in the AVA group, 46 achieved an overall response (OR) (88.5%), and the cumulative incidence of OR was 91.9%. Patients treated with AVA only had a greater 60-day cumulative incidence of platelet engraftment than patients treated with recombinant human thrombopoietin (rhTPO) only or rhTPO combined with AVA (95.2% vs . 84.5% vs . 80.6%, P  <0.001). Patients suffering from SFPR had a slightly better cumulative incidence of OR (100%, P  = 0.104). Patients who initiated AVA treatment within 14 days post-UCBT had a better 60-day cumulative incidence of platelet engraftment than did those who received AVA after 14 days post-UCBT (96.6% vs . 73.9%, P  = 0.003). CONCLUSION Compared with those in the historical control group, our results indicate that AVA could effectively promote platelet engraftment and recovery after UCBT, especially when used in the early period (≤14 days post-UCBT).
Humans ; Female ; Male ; Thrombocytopenia/etiology* ; Adult ; Retrospective Studies ; Cord Blood Stem Cell Transplantation/adverse effects* ; Middle Aged ; Adolescent ; Young Adult ; Thiazoles/adverse effects* ; Platelet Count ; Receptors, Thrombopoietin/agonists* ; Child ; Thiophenes

OBJECTIVE To analyze the relationship between the postoperative intervertebral space infection and the expressions of β-catenin and glycogen synthase kinase-3β(GSK-3β)in the patients with lumbar disc herniation(LDH).METHODS A total of 201 patients with LDH who received surgical procedures in Harbin Orthopedics and Traumatology Hospital from Jan.2022 to May 2024 were enrolled in the study and were divided into the infection group and the no infection group according to the status of postoperative intervertebral space infection.The distri-bution and drug resistance of pathogens isolated from the patients of the infection group were detected.The rela-tive expression levels of peripheral blood Wnt,β-catenin and GSK-3β proteins were compared between the two groups.RESULTS Among the 201 patients who received surgical procedures,21 had postoperative intervertebral space infections,with the infection rate 10.45％.Totally 26 strains of pathogens were isolated from the 21 patients in the infection group,11(42.31％)of which were gram-negative bacteria,and 15(57.69％)were gram-positive bacteria.The operation duration of the infection group was(3.46±0.89)hour,longer than(3.09±0.73)hour of the no infection group(t=2.146,P=0.033).There were significant differences in the expressions of peripheral blood β-catenin and GSK-3β proteins between the infection group and the no infection group(P＜0.05).Receiver operating characteristic(ROC)curve analysis showed that the areas under the curves(AUCs)of the relative ex-pression levels of β-catenin and GSK-3β were 0.836 and 0.800,respectively;the sensitivities were 52.40％and 66.70％,respectively;the specificities were 90.56％and 93.89％,respectively;the cut-off point were 5.65 and 2.15,respectively.CONCLUSIONS The LDH patients are at high risk of postoperative intervertebral space infec-tion,the patients with the infection show the activation of Wnt/β-catenin signaling pathways and the rise of ex-pression levels of β-catenin and GSK-3β proteins.The levels of the indexes may facilitate the prediction of postop-erative intervertebral space infection in the LDH patients.

With the rapid development of competitive sports, the incidence of anterior cruciate ligament (ACL) injury is on the rise. Such injuries may shorten athletes′ career and lead to other long-term adverse consequences. Although athletes generally recover well after ACL reconstruction, many still struggle to return to their pre-injury performance levels. Advances in the understanding of ACL anatomy and injury mechanisms, along with the evolution of surgical techniques and rehabilitation methods, have provided more individualized and tailored options for athletes following ACL injuries. However, there is currently no consensus in China regarding surgical and rehabilitation strategies for competitive athletes aiming to return to sports after ACL injuries. To this end, the Sports Medicine Committee of the Chinese Research Hospital Association and the Editorial Board of the Chinese Journal of Trauma jointly formulated the Expert consensus on surgical treatment and rehabilitation for competitive sports athletes returning to sports after anterior cruciate ligament injury ( version 2025), and presented 14 recommendations covering surgical indications, preoperative rehabilitation, surgical timing, surgical strategies and postoperative rehabilitation strategies, aiming to improve the surgical treatment and rehabilitation system for ACL injuries in competitive athletes and facilitate their return to high-level sports performance after injury.

Acute lateral ankle sprain (ALAS) is one of the most common sport injuries, with high incidence, recurrence and disability rates. Currently, exercise rehabilitation-based non-surgical treatment is the primary management approach for ALAS. However, there remain improper practices such as excessive immobilization or uncontrolled activity, which contribute to recurrent sprains and chronic ankle instability, significantly impairing patients′ athletic function and quality of life. To standardize the non-surgical management of ALAS, improve the cure rates, and reduce the recurrence and disability rates, Chinese Sports Rehabilitation Medicine Training Project of Chinese Medical Association, Foot and Ankle Basics and Orthopedics Group, Orthopedic Branch of Chinese Medical Doctor Association, and Sports Medicine Branch of Jiangsu Medical Association organized relevant experts to formulate Expert consensus on non-surgical treatment for acute lateral ankle sprain ( version 2025), following the principles of scientific vigor, practicality, and innovation. Thirteen recommendations were proposed for standardized treatment protocols across different healing phases, aiming to provide references for standard management of ALAS and improve the therapeutic outcomes.

The new era imposes heightened demands on medical professionals,who must not only possess a solid theoretical foundation but also exhibit strong practical skills and innovative capabilities.The quality of medical func-tional laboratory construction is crucial for cultivating high-caliber medical talents.In light of the current developmental status and trends regarding functional experiment teaching within Chinese higher education institutions,particularly the disparities in development across various regions and institutions,the Functional Experiment Teaching Committee of the Chinese Pathophysiology Society has developed an expert consensus on laboratory construction standards.This consensus was established through comprehensive investigations,research,and extensive discussions to provide a reference for di-verse institutions to continuously enhance their levels of laboratory construction.

Objective Explore the clinical and molecular genetic characteristics of children with epilepsy as the first symptom caused by mutations in the ATPase Na+/K+transporting subunit alpha-3(ATP1A3)gene.Methods Clinical data of 853 epilepsy patients who visited the Department of Pediatric Neurology at Northwest Women's and Children's Hospital from November 2021 to December 2023 were retrospectively collected.Among them,3 cases were diagnosed with ATP1A3 gene mutations.Next-generation sequencing(NGS)techniques was used to perform whole exome sequencing analysis on serum samples from ATP1A3 gene mutation patients,and Sanger sequencing method was used for mutation verification.Results The ATP1A3 gene mutation sites in three patients were c.2401(exo n17)G>A,c.1103C>T and c.2542+1G>A,all of which presented with epilepsy as the initial symptom,mainly manifested as seizures and loss of consciousness.Imaging examination shows no abnormalities or slight widening of the subarachnoid space in both frontal and temporal regions,with background slow waves appearing in the electroencephalogram.Seizure were relieved after treatment with antiepileptic drugs.Conclusion The heterozygous mutations c.1103C>T and c.2542+1G>A at the ATP1A3 gene locus are novel pathogenic variations in epilepsy,and further confirm that the c.2401(exon17)G>A heterozygous mutation can cause epilepsy symptoms in patients.The clinical phenotype of ATP1A3 gene mutation includes typical alternating hemiplegia and muscle tone disorders,as well as seizures and developmental delay.

Objective To identify high-risk factors for healthcare-associated infection(HAI)in patients in inten-sive care units(ICUs),and develop a quick response(QR)code-based APP prediction tool.Methods Information of inpatients in general ICUs of three hospitals in Guizhou Province from January to December 2024 were collected.Risk factors were analyzed with a logistic regression model.QR code-based APP was constructed and validated.Results A total of 1 782 patients in general ICUs of three hospitals in Guizhou Province in 2024 were included in the analysis,out of which 410 were HAI cases,and the incidence of HAI was 23.01％.Multivariate logistic regre-ssion analysis results of HAI in ICU inpatients showed that regional gross domestic product(GDP)≥58 685 Yuan,performing pathogen culture during this hospitalization,history of diabetes mellitus,history of cancer,length of hospital stay ≥7 days before infection,and duration of persistent fever＞5 days before infection were independent risk factors for HAI in ICU patients(all P＜0.05).The discrimination of the model(area under the receiver operating characteristic curve[AUC]of 0.841),calibration(Brier score of 0.129),and clinical effectiveness(net benefit of 11.4％when the risk threshold was 5％-74％)all performed well.Conclusion The QR code-based APP prediction tool is of great significance for scientific research transformation and precise HAI control.

Objective Explore the clinical and molecular genetic characteristics of children with epilepsy as the first symptom caused by mutations in the ATPase Na+/K+transporting subunit alpha-3(ATP1A3)gene.Methods Clinical data of 853 epilepsy patients who visited the Department of Pediatric Neurology at Northwest Women's and Children's Hospital from November 2021 to December 2023 were retrospectively collected.Among them,3 cases were diagnosed with ATP1A3 gene mutations.Next-generation sequencing(NGS)techniques was used to perform whole exome sequencing analysis on serum samples from ATP1A3 gene mutation patients,and Sanger sequencing method was used for mutation verification.Results The ATP1A3 gene mutation sites in three patients were c.2401(exo n17)G>A,c.1103C>T and c.2542+1G>A,all of which presented with epilepsy as the initial symptom,mainly manifested as seizures and loss of consciousness.Imaging examination shows no abnormalities or slight widening of the subarachnoid space in both frontal and temporal regions,with background slow waves appearing in the electroencephalogram.Seizure were relieved after treatment with antiepileptic drugs.Conclusion The heterozygous mutations c.1103C>T and c.2542+1G>A at the ATP1A3 gene locus are novel pathogenic variations in epilepsy,and further confirm that the c.2401(exon17)G>A heterozygous mutation can cause epilepsy symptoms in patients.The clinical phenotype of ATP1A3 gene mutation includes typical alternating hemiplegia and muscle tone disorders,as well as seizures and developmental delay.

Objective To identify high-risk factors for healthcare-associated infection(HAI)in patients in inten-sive care units(ICUs),and develop a quick response(QR)code-based APP prediction tool.Methods Information of inpatients in general ICUs of three hospitals in Guizhou Province from January to December 2024 were collected.Risk factors were analyzed with a logistic regression model.QR code-based APP was constructed and validated.Results A total of 1 782 patients in general ICUs of three hospitals in Guizhou Province in 2024 were included in the analysis,out of which 410 were HAI cases,and the incidence of HAI was 23.01％.Multivariate logistic regre-ssion analysis results of HAI in ICU inpatients showed that regional gross domestic product(GDP)≥58 685 Yuan,performing pathogen culture during this hospitalization,history of diabetes mellitus,history of cancer,length of hospital stay ≥7 days before infection,and duration of persistent fever＞5 days before infection were independent risk factors for HAI in ICU patients(all P＜0.05).The discrimination of the model(area under the receiver operating characteristic curve[AUC]of 0.841),calibration(Brier score of 0.129),and clinical effectiveness(net benefit of 11.4％when the risk threshold was 5％-74％)all performed well.Conclusion The QR code-based APP prediction tool is of great significance for scientific research transformation and precise HAI control.