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.

Objective To analyze the risk factors associated with intraoperative parathyroid injury during thyroid cancer surgery and develop a predictive model to evaluate its predictive efficacy.Methods A retrospective study was conducted involving 76 patients who experienced intraoperative parathyroid injury during thyroid cancer surgery between May 2021 and February 2024.These patients were included in the parathyroid injury group.For the control group,76 patients who underwent thyroid cancer surgery without intraoperative parathyroid injury during the same period were selected.Clinical data,complete blood count parameters,and other relevant variables were collected.Univariate analysis was performed to screen for potential risk factors,and Logistic regression analysis was used to identify independent risk factors.A regression predictive model was established,and the model's goodness-of-fit and predictive power were evaluated.Results Among the 76 patients,75 had temporary parathyroid function impairment and 1 had permanent parathyroid function impairment.Univariate and multivariate Logistic regression analyses showed that bilateral lymph node dissection,bilateral total lobectomy,capsule invasion,and combined hashimoto's thyroiditis were independent risk factors(P＜0.05).A predictive regression model was developed based on these factors.The Hosmer-Lemeshow test showed a x2=2.064,P=0.356,indicating good model fit.The receiver operating characteristic(ROC)curve revealed that the model had an area under the curve(AUC)of 0.713,with a 95％confidence interval(CI)of 0.639 to 0.787,suggesting good predictive efficacy.Conclusion Hashimoto's thyroiditis,capsular invasion,bilateral lymph node dissection,and bilateral total lobectomy are significant risk factors for intraoperative parathyroid injury during thyroid cancer surgery.The predictive model constructed based on these factors has good predictive efficacy.

Objective To obtain tree shrew Vasorin(VASN)recombinant protein through prokaryotic expression and purification,prepare monoclonal antibody against tree shrew VASN by immunizing mice with this protein,and preliminarily evaluate its application value.Methods Reverse transcription-polymerase chain reaction(RT-PCR)was used to amplify the full-length sequence of tree shrew VASN gene in vitro.The tree shrew VASN gene fragment was inserted into pET-30a vector to construct pET-30a-VASN recombinant plasmid.The recombinant plasmid was subjected to double digestion with BamH Ⅰ and Sal Ⅰfor identification,and its correctness was further verified by sequencing.The recombinant plasmid with correct sequencing was transformed into BL21(DE3)competent cells,and isopropyl β-D-thiogalactoside(IPTG)was used to induce expression of VASN recombinant protein.Proteins were separated by sodium dodecyl sulfate polyacrylamide gel electrophoresis(SDS-PAGE),and the VASN recombinant protein was purified by KCI.Purified recombinant protein was used to immunize BALB/c mice for four times,and serum antibody titer was detected by enzyme-linked immunosorbent assay(ELISA).Splenocytes from mice with serum antibody titer above 1:10 000 were used for cell fusion with myeloma cells.Hypoxanthine-aminopterin-thymidine(HAT)culture medium was first used to screen hybridoma cells.ELISA was used to screen positive hybridoma cell lines that could secrete specific antibodies,and monoclonal hybridoma cell lines were obtained by limiting dilution method.VASN monoclonal antibodies were prepared in large quantities by ascites induction method,purified using rProtein G,and the affinity and in vitro reaction specificity of the monoclonal antibodies were detected by ELISA and Western blotting.Results The full-length sequence of the tree shrew VASN gene was successfully amplified and the recombinant plasmid vector of tree shrew pET-30a-VASN was constructed.The sequence obtained by sequencing of the recombinant plasmid vector was identical to the tree shrew VASN target gene sequence.Recombinant protein VASN mainly existed in the form of inclusion bodies,and the purity after purification reached 90％,meeting the requirements of subsequent immunization experiments.After four immunizations with recombinant protein VASN,mouse serum antibody titer reached 1:729 000.Monoclonal positive hybridoma cell lines were obtained through ascites induction and purification,and the constant affinity value of monoclonal antibodies measured by ELISA reached 2.59x107 L/mol.Western blotting results showed that the tree shrew VASN monoclonal antibody could bind to tree shrew VASN recombinant protein,but it showed no binding reaction with porcine retinol-binding protein 4 recombinant protein,human VASN-leucine rich repeat recombinant protein,or bovine serum albumin.Anti-tree shrew VASN monoclonal antibody could specifically recognize VASN protein in tree shrew heart,liver,spleen,lung,kidney and muscle,with clear bands and clean background.Immunohistochemical detection results showed that this monoclonal antibody could recognize VASN protein in tree shrew spleen,lung,and tree shrew immortalized fibroblasts with high VASN mRNA expression levels,and the detection results were positive.Conclusion Monoclonal antibody against tree shrew VASN is successfully prepared.This antibody can be used for immunohistochemical detection of tree shrew immortalized fibroblasts,spleen tissue,and lung tissue,providing an important tool for further research on the function of VASN in tree shrew models.

Objective:To investigate the association between single nucleotide polymorphism (SNP) of the protein phosphatase 1 regulatory subunit 1B( PPP1R1B) gene and schizophrenia in the Han population of northern Henan province. Methods:Utilizing Psychiatric Genomics Consortium 3 (PGC3) data, the SNPs of PPP1R1B gene which were significantly associated with schizophrenia were screened.Subsequently, totally 1 721 schizophrenia patients and 6 726 healthy controls from the Han population in northern Henan province were recruited for further analysis. The SNP rs907094, located within the PPP1R1B gene was validated, and the clinical symptoms of 386 schizophrenia patients were evaluated using the positive and negative syndrome scale (PANSS). Additionally, expression quantitative trait loci (eQTL) association analysis was conducted to explore the relationship between the rs907094 polymorphism and PPP1R1B gene expression.The PLINK v1.9, Genetic Power Calculater, SPSS 20.0 softwares were used for data analysis. Results:Significant differences in genotype AA, AG, GG(schizophrenia group: AA, 489(28.4%); AG, 848(49.3%); GG, 384(22.3%); control group: AA, 1 450(21.6%); AG, 3 386(50.3%); GG, 1 890(28.1%), χ2=45.418, P<0.05) and allele frequency(schizophrenia group: A, 1 826(53.1%); G, 1 616(46.9%); control group: A, 6 286(46.7%); G, 7 166(53.3%), χ2=43.877, P<0.05) were observed for SNP rs907094 between the schizophrenia group and control group. Individuals carrying allele A were identified to have a higher risk of developing schizophrenia compared to those carrying allele G ( OR=1.288, 95% CI=1.195-1.388). Furthermore, the genotype PPP1R1B gene was found to be associated with the clinical features of schizophrenia. A statistically significant difference was observed in the excitement/hostility factor between AA and GG patients with rs907094 (13.62±5.65, 15.54±4.66)( P<0.05). Additionally, significant differences were noted in the cognitive factor scores between AA and GA genotypes (17.76±5.58, 19.43±5.73)( P<0.05). Conclusions:In the Han population from northern Henan province, the rs907094 polymorphism of the PPP1R1B gene is associated with schizophrenia.And the specific locus may be implicated in arousal/hostility symptoms and cognitive dysfunction.

Extensive penile ulcer secondary to granulomatosis with polyangiitis（GPA）is clinically rare. This study reports a 20-year-old male patient with pathologically confirmed GPA-induced penile ulcers. Following control of GPA progression and wound infection management，reconstruction using a scrotal pedicled flap was performed to address the penile skin defect. The follow-up of 1 year results demonstrated favorable flap survival and significant improvement in penile appearance.

Immune checkpoint inhibitor-related pneumonitis(CIP)is a relatively common immune-related adverse event.The current treatment for CIP mainly relies on glucocorticoids,with 70％～80％of patients being controlled by conventional glucocorticoid therapy.However,steroid-unresponsive CIP is often se-vere and can be life-threatening.There is no standard treatment protocol for steroid-unresponsive CIP,highlighting a significant unmet clinical need.This paper reviews the diagnosis,treatment progress,and exploratory research of steroid-unresponsive CIP to provide evidence-based guidelines and directions for clinical and translational research.

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.

[Purpose]To analyze the trend of incidence rates of gallbladder cancer in Qidong City of Jiangsu Province from 1972 to 2021.[Methods]The incidence data of gallbladder cancer from 1972 to 2021 were collected from the Qidong Tumour Registry database,the crude incidence rate(CR),age-standardized rate by Chinese standard population(ASRC),age-standardized rate by world standard population(ASRW)of gallbladder cancer were calculated.Trend analysis was per-formed using Joinpoint 4.9.1.0 software to calculate the average annual percentage change(AAPC)of gallbladder cancer incidence rates,and time trend analysis was performed on the overall inci-dence rate by sex and age.[Results]A total of 1 369 cases of gallbladder cancer occurred in Qi-dong City from 1972 to 2021,accounting for 0.93％of all malignant tumors.The overall CR of gallbladder cancer was 2.44/105 in 50 years,ASRC was 0.88/105 and ASRW was 1.45/105.The truncated rate of 35～64 years old was 1.98/105,the cumulative incidence of gallbladder cancer at 0～74 years old was 0.16％,and the risk of cumulative incidence of gallbladder cancer was 0.16％.CR was slightly higher in women than that in men,but after standardization it was slightly higher in men than that in women.The sex ratio of CR,ASRC and ASRW was 0.89,1.07 and 1.06,respectively.With the increase of age,the incidence of gallbladder cancer was also increased.The age of onset was slightly increased in last 50 years.In last 50 years,there was an upward trend in the overall incidence of gallbladder cancer,the incidence both for men and women,and the inci-dence of each age group.[Conclusion]The incidence of gallbladder cancer in Qidong City has increased considerably during the past 50 years,and continuing attention should be paid to the prevention and treatment of gallbladder cancer especially for the key populations.