Wilson disease （WD） is characterized by marked heterogeneity in clinical phenotype， and it often overlaps with liver diseases （such as cholestatic liver diseases and active hepatitis） and neuropsychiatric diseases， which may easily lead to misdiagnosis or missed diagnosis. This article focuses on the confusing scenarios in clinical practice， reviews the pathophysiological basis of ATPase copper transporting beta （ATP7B） gene dysfunction， and systematically elaborates on the key interpretation points and limitations of ceruloplasmin， total serum copper/non-ceruloplasmin-bound copper， 24-hour urinary copper excretion， D-penicillamine challenge test， hepatic copper quantification， and histopathological assessment across different clinical scenarios. This article also summarizes the potential application of emerging dynamic copper indicators， such as relative exchangeable copper， in diagnosis， family screening， and treatment monitoring. In addition， it discusses the role of ATP7B genetic testing in “gray-zone” cases， difficulties in interpreting variants of uncertain significance， and the features of mutation spectrum in Chinese population， as well as the potential decline in diagnostic performance of the Leipzig scoring system in the context of complex liver diseases. Overall， the diagnosis of WD should not rely on a single indicator， and it is recommended to adopt a multidimensional hierarchical decision-making pathway that integrates phenotype， biochemical tests， dynamic copper indices， tissue/genetic evidence， and scoring systems. Furthermore， key thresholds and workflows should be optimized using real-world data from China， so as to enhance the efficiency of early identification and familial management， thereby improving the long-term prognosis of patients.

ObjectiveTo investigate the prevalence of muscle changes （including sarcopenia and myosteatosis） and related influencing factors in patients with porto-sinusoidal vascular disorder （PSVD）， and to provide a theoretical basis for the early identification， prevention， and intervention of muscle changes in PSVD patients. MethodsA total of 132 PSVD patients who were diagnosed in Nanjing Second Hospital from July 2017 to July 2024 were enrolled as case group， and the hospital staff who underwent physical examination in 2025 were enrolled as healthy control group. Propensity score matching was performed based on age and sex at a ratio of 1∶1. According to muscle status assessed by abdominal CT， the subjects were divided into non-muscle change group， mild muscle change group （myosteatosis alone）， and severe muscle change group （sarcopenia alone or sarcopenia comorbid with myosteatosis）， with the type and severity of muscle change as the exposure factors. General information， laboratory tests， L3-level CT images， and liver biopsy data were collected for the patients in the case group， and general information and CT images were collected for the individuals in the healthy control group. Sarcopenia was diagnosed by measuring skeletal muscle index at the L3 level （<44.77 cm²/m² for men and <32.50 cm²/m² for women）， and myosteatosis was defined by mean muscle attenuation combined with BMI （BMI <24.9 kg/m² with attenuation <41 HU or BMI ≥25 kg/m² with attenuation <33 HU）. Demographic， laboratory， and clinical parameters were compared between the case group and the healthy control group. The independent-samples t test was used for comparison of normally distributed continuous data between groups， and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between groups； the chi-square test or the Fisher’s exact test was used for comparison of categorical data between groups. The univariate and multivariate Logistic regression analyses were used to identify the factors associated with sarcopenia in PSVD. ResultsAmong the 132 patients with PSVD， there were 83 patients with portal hypertension （PH） and 49 patients without PH， and there were significant differences between these two groups in age， albumin， albumin/globulin ratio， leukocyte count， neutrophil count， red blood cell count， platelet count， direct bilirubin， indirect bilirubin， hemoglobin， blood calcium， cholinesterase， total bile acid， triglyceride， total cholesterol， prothrombin time， international normalized ratio， activated partial thromboplastin time， decompensation， gastroesophageal or ectopic varices， bleeding and ascites （all P<0.05）. The analyses after matching showed that compared with the healthy control group， the case group had significantly higher prevalence rates of abnormal muscle structure （43.18% vs 18.94%， P<0.001）， mild muscle changes （22.73% vs 7.58%， P<0.001）， and severe muscle changes （20.45% vs 11.36%， P<0.001）. Further comparison showed that there was no significant difference in the proportion of patients with muscle changes between the PSVD patients with PH and those without PH （42.17% vs 44.90%， P=0.760）. The binary Logistic regression analysis with the presence or absence of muscle changes as the dependent variable showed that age （odds ratio ［OR］=1.05， 95% confidence interval ［CI］： 1.02 — 1.09， P<0.05）， subcutaneous fat index （OR=1.03， 95%CI： 1.01 — 1.06， P<0.05）， hemoglobin （OR=0.97， 95%CI： 0.95 — 0.99， P<0.05）， and thrombin time （OR=1.26， 95%CI： 1.06 — 1.49， P<0.05） were independent influencing factors for muscle changes in PSVD patients. The multivariate ordinal Logistic regression analysis with the severity of muscle changes as the dependent variable showed that age （OR=1.04， 95%CI： 1.01 — 1.07， P<0.05） and thrombin time （OR=1.17， 95%CI： 1.01 — 1.36， P<0.05） were independent risk factors for the grading of muscle changes. ConclusionMuscle changes are common in PSVD patients， and these changes may be caused by PSVD itself rather than PH. Age， fat distribution， thrombin time， and hemoglobin are important influencing factors for muscle changes.

[This corrects the article DOI: 10.1016/j.apsb.2019.01.013.].

Venous system diseases mainly include varicose veins and venous malformations of lower limbs and the genital system. Most of them are chronic diseases that cause serious clinical symptoms to patients and affect their health and quality of life. Sclerotherapy has become the first-line therapy for venous system diseases. However, there are problems such as incomplete fibrosis and vascular recanalization after sclerotherapy, and improper operation will cause serious adverse consequences. Therefore, exploring a safe and effective sclerotherapy strategy is essential for developing clinically successful sclerotherapy. To solve the above problems, we proposed a new sclerotherapy strategy with a dual mechanism of "vascular damage and plasmin (PLA) system inhibition." We intended to construct a novel cationic surfactant (AEO_x-TA) by reacting tranexamic acid (TA), a parent structure, with fatty alcohol polyoxyethylene ether (AEO_x) by ester bonds. AEO_x-TA could damage vascular endothelium and initiate a coagulation cascade effect to induce thrombus. Furthermore, AEO_x-TA could be degraded by esterase and release the parent drug, TA, which could inhibit the PLA system to inhibit the degradation of thrombus and extracellular matrix and promote the process of vascular fibrosis. In addition, such surfactant-based sclerosants have foam-forming properties, and they can be blended with polyvinyl alcohol (PVA) to prepare a highly stable foam formulation (AEO_x-TA/P), which can achieve a precise drug delivery and prolonged drug retention time, thereby improving drug efficacy and reducing the risk of ectopic embolism. Overall, the novel cationic surfactant AEO_x-TA provides a new avenue to resolve the bottleneck: surfactant sclerosants' efficiency is relatively low in the current sclerotherapy.

Schizophrenia (SZ) stands as a severe psychiatric disorder. This study applied diffusion tensor imaging (DTI) data in conjunction with graph neural networks to distinguish SZ patients from normal controls (NCs) and showcases the superior performance of a graph neural network integrating combined fractional anisotropy and fiber number brain network features, achieving an accuracy of 73.79% in distinguishing SZ patients from NCs. Beyond mere discrimination, our study delved deeper into the advantages of utilizing white matter brain network features for identifying SZ patients through interpretable model analysis and gene expression analysis. These analyses uncovered intricate interrelationships between brain imaging markers and genetic biomarkers, providing novel insights into the neuropathological basis of SZ. In summary, our findings underscore the potential of graph neural networks applied to multimodal DTI data for enhancing SZ detection through an integrated analysis of neuroimaging and genetic features.
Humans ; Schizophrenia/pathology* ; Diffusion Tensor Imaging/methods* ; Male ; Female ; Adult ; Brain/metabolism* ; Young Adult ; Middle Aged ; White Matter/pathology* ; Gene Expression ; Nerve Net/diagnostic imaging* ; Graph Neural Networks

Objective To establish an intelligent ICD coding management system to solve the current difficulties in hos-pital ICD coding management,reduce the error rate of information uploading,and improve the accuracy of coding.Methods An ICD coding management system was constructed,with the national clinical version of ICD coding as the main index system.The mapping relationship between the main index coding and the medical insurance version of ICD coding,as well as the hospital ver-sion of ICD coding,was established to achieve real-time maintenance and adjustment.In accordance with the requirements of na-tional public hospital performance evaluation and hospital level assessment,we will establish the ICD coding"label"function and knowledge base for evaluation indicators,embed them into electronic medical record system(EMR),and implement intelligent prompting functions for clinicians to facilitate systematic statistical analysis of data.Results After the establishment of the sys-tem,the error rate of mapping and uploading information such as disease diagnosis and procedures coding decreased significantly(1.2‰ vs 0.3‰,P＜0.05).The accuracy of the main discharge diagnosis and procedures coding has significantly improved(82％vs 91％,P＜0.05;78％vs 88％,P＜0.05).The satisfaction of clinicians and coders increased significantly(65％vs 82％,P＜0.05;79％vs 88％,P＜0.05).Conclusion This system can reduce the error rate of mapping and uploading infor-mation,improve the accuracy and completeness of coding,enhance the management level of ICD coding,and promote the high-quality development of medical care.

ObjectiveTo investigate the etiology and clinical features of intrahepatic cholestasis and the diagnostic value of whole exome sequencing （WES） through a retrospective analysis of the medical history， pathological results， and gene sequencing data of 62 patients with unexplained intrahepatic cholestasis. MethodsA retrospective analysis was performed for the clinical data of 480 patients who underwent WES due to unexplained liver function abnormalities in Nanjing Second Hospital from January 2017 to December 2023， among whom 62 patients with unexplained intrahepatic cholestasis were selected based on laboratory data， and a confirmed diagnosis was made based on imaging data， pathological findings， and gene sequencing data. The patients with unexplained intrahepatic cholestasis were analyzed in terms of demographic features， clinical manifestation， etiology spectrum， and genetic profile. ResultsA total of 62 patients with unexplained intrahepatic cholestasis were included， among whom there were 35 male patients and 27 female patients， with a median age of 42 （7 — ‍77） years. WES was used to make a definite diagnosis in 21 patients （33.87%）， among whom the patients with familial intrahepatic cholestasis accounted for the highest proportion of 52.38% （11/21）； genetic metabolic disorders were excluded by WES in 34 patients， with drug-induced liver injury and sepsis-associated liver injury accounting for the highest proportion of 55.88% （19/34）， followed by primary biliary cholangitis and primary sclerosing cholangitis accounting for 20.59% （7/34） and intrahepatic bile duct stones accounting for 17.65% （6/34）， while the patients with a lack of confirmed diagnosis accounted for 11.29% （7/62）. A total of 21 novel mutation sites which were not reported in previous articles were identified in this study. ConclusionGenetic metabolic disorders constitute a significant proportion of unexplained intrahepatic cholestasis， and WES plays a crucial role in the diagnosis of unexplained intrahepatic cholestasis.

Objective To evaluate the safety and effectiveness of different doses of epidural oxycodone injection for traction reaction during cesarean sections to determine the optimal dose.Methods Totally 119 cases of parturients who underwent cesarean sections from October 2023 to May 2024 were selected and randomly divided into groups A,B,C and D.All four groups of lying-in women received epidural injection after the umbilical cord was cut.Groups A,B and C were given oxycodone 3 mg,5 mg and 7 mg respectively,and group D was given an equal amount of normal saline.The primary outcomes were documentation of maternal vital signs and traction reaction during the surgery.Secondary outcomes included patient-controlled intravenous analgesia(PCIA)times within 48 hours and documentation of any postoperative adverse events within 24 hours.Results The comparison of in-tra?operative vital signs among the four groups of patients revealed no statistically significant differences.In groups A,B and C the incidence of traction reactions was significantly lower at 20％,17.2％and 3.3％,respectively,compared to group D at 53.3％,showing statistically significant differences(P<0.05).Additionally,the inci?dence of traction reaction in group C was significantly lower than in group A(P<0.05).Groups A,B and C pro?duced significantly better results than group D in terms of the duration of anesthesia.PCIA presses were substan?tially less in groups A and C than in group D(P<0.05),and group C had a significantly higher total incidence of adverse events than group A and group D(P<0.05).Conclusions Epidural injection of 3 mg,5 mg and 7 mg oxycodone has been proved to significantly reduce traction reaction during cesarean sections while minimally im?pacting intraoperative vital signs.This intervention has the potential to extend the duration of anesthesia,decrease the frequency of PCIA presses.Among these,7 mg is the most effective but has the highest incidence of adverse effects,requiring carefully post?operative monitoring.

ObjectiveTo analyze the changing trend of the disease burden of acute viral hepatitis （AVH） globally and in China from 1990 to 2021， and to provide a basis for optimizing prevention and control strategies. MethodsRelated data were extracted from the Global Burden of Disease 2021 database， including incidence rate， mortality rate， and disability-adjusted life years （DALY） for AVH globally and in China from 1990 to 2021， and the patients were divided into groups according to region， age， sex， and type of hepatitis. The Joinpoint regression model was used to calculate average annual percentage change （AAPC） and its 95% confidence interval （CI）. ResultsFrom 1990 to 2021， there was a tendency of reduction in the age-standardized incidence rate， mortality rate， and DALY rate of AVH globally， with an average annual reduction of 1.02% （95%CI： -1.10% to -0.94%， P<0.001）， 3.97% （95%CI： -4.12% to -3.82%， P<0.001）， and 3.64% （95%CI： -3.84% to -3.44%， P<0.001）， respectively； in China， there was also a tendency of reduction in these indicators， with an average annual reduction of 1.63% （95%CI： -1.70% to -1.57%， P<0.001）， 9.24% （95%CI： -9.51% to -8.97%， P<0.001）， and 7.93% （95%CI： -8.15% to -7.71%， P<0.001）， respectively. In addition， China’s share of the global disease burden of AVH continued to decrease； the proportion of new cases decreased from 24% in 1990 to 15% in 2021， the proportion of deaths decreased from 19% to 4%， and the proportion of DALY decreased from 16% to 4%. From 1990 to 2021 globally， the peaks in the incidence rate， mortality， and DALY of AVH were observed in children under 5 years of age； in China， although the peak incidence rate of the disease was still observed in children under 5 years of age， there was a tendency of increase in the incidence rate of AVH among young adults aged 25 — 29 years in recent years， with the most significant increase in the cases of acute hepatitis B （accounting for 59% of the cases in this age group）， while the disease burden of mortality and DALY mainly affected the middle-aged and elderly populations. The disease burden of AVH in the male population was higher than that in the female population. As for the distribution of disease types， acute hepatitis A was the predominant type of AVH， accounting for 64% globally and 48% in China， whereas acute hepatitis B was the leading cause of mortality and DALY， accounting for 50% of deaths globally， 80% of deaths in China， 47% of DALY globally， and 69% of DALY in China. ConclusionThere is a tendency of reduction in the disease burden of AVH globally and in China from 1990 to 2021， but there is a tendency of increase in the incidence rate of AVH among young adults in China， especially acute hepatitis B. It is necessary to implement targeted prevention and control strategies.

ObjectiveTo investigate the awareness and clinical practice of guidelines for the prevention and treatment of chronic hepatitis B （2022 edition） among clinicians. MethodsFrom July 19 to December 31， 2024， a self-designed electronic questionnaire was distributed via the WeChat mini program to collect related data from 1 588 clinicians nationwide， including their awareness and practice based on 18 questions regarding testing and referral， diagnosis and treatment， and follow-up. ResultsAmong all respondents， only 350 clinicians correctly understood all the updated key points of antiviral indications and treatment for special populations in the 2022 edition of guidelines for the prevention and treatment of chronic hepatitis B， with an overall awareness rate of 22.0%. Only 20% ‍—‍ ‍40% of the patients with positive HBV DNA and an age of >30 years receive antiviral therapy， while 80% ‍—‍ ‍100% of the patients with positive HBV DNA and a family history of hepatitis B cirrhosis or hepatocellular carcinoma receive antiviral therapy. The median follow-up rates at 1 year， 3 years， and 5 years were 67.5% 57.5% and 47.5%，respectively， showing a trend of gradual reduction， which might be associated with the influencing factors such as insufficient time for follow-up management by clinicians， insufficient awareness of the disease among patients， and poor adherence to follow-up. ConclusionThere is a gap between the awareness and practice of guidelines for the prevention and treatment of chronic hepatitis B （2022 edition） among clinicians. It is recommended to further strengthen training and focus on the whole process of “detection， diagnosis， treatment， and management” for patients with chronic hepatitis B in healthcare institutions， in order to promote the implementation of the guidelines.