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 investigate the iodine nutrition level and the prevalence of thyroid nodules in pregnant women in Hubei Province, and to provide a basis for prevention and treatment of iodine deficiency disorders.Methods:According to the requirements of the National Iodine Deficiency Disorders Monitoring Program (2016 Edition), a cross-sectional survey of iodine nutrition status of pregnant women ( n = 321) was conducted from July to October 2020 in two mountainous counties (Tongcheng County and Xingshan County) and two plain counties (Liangzihu District and Xinzhou District) in Hubei Province. Among them, there were 43, 114, and 164 pregnant women in the early, middle, and late stages of pregnancy, respectively. Edible salt samples and once random urine samples were collected to detect salt iodine and urinary iodine, and thyroid ultrasound was performed to calculate the detection rate of thyroid nodules. Results:The coverage rate of iodized salt, qualified rate of iodized salt, and consumption rate of qualified iodized salt in Hubei Province were 99.69% (320/321), 95.94% (307/320) and 95.64% (307/321), respectively. The median urinary iodine level for pregnant women was 164.80 μg/L. Among them, the median urinary iodine levels in Liangzihu District, Tongcheng County, Xinzhou District, and Xingshan County were 175.90, 178.25, 155.80 and 143.00 μg/L, respectively. There was a statistically significant difference in urinary iodine levels among different regions ( H = 8.51, P = 0.037). The median urinary iodine levels of pregnant women in the early, middle, and late stages of pregnancy were 187.20, 144.45, and 172.05 μg/L, respectively. There was no statistically significant difference in urinary iodine levels among pregnant women in different stages of pregnancy ( H = 2.94, P = 0.230). Urinary iodine < 150, 150 - < 250, 250 - < 500, ≥500 μg/L accounted for 45.48% (146/321), 33.33% (107/321), 19.63% (63/321), 1.56% (5/321), respectively. The detection rate of thyroid nodules was 16.82% (54/321), and the goiter rate was 0.93% (3/321). Conclusions:In 2020, Hubei Province is in an appropriate state of iodine, and there are still a considerable proportion of pregnant women in a state of iodine deficiency. The detection rate of thyroid nodules is relatively low. It is necessary to continuously monitor the iodine nutrition of pregnant women, strengthen health promotion on the hazards of iodine deficiency during pregnancy, and minimize maternal and infant health damage caused by iodine deficiency.

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.

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.

Needle-free injection(NFI)has emerged as a novel vaccine delivery technology,utilizing high-pressure jet streams to deliver vaccines into intradermal or subcutaneous tissues.In recent years,the application of this technology in the fields of medicine and veterinary medicine has a-chieved significant progress.Compared with traditional needle injection,the core advantages of NFI have been highlighted in several aspects:it has significantly improved vaccination efficiency,mak-ing it particularly suitable for mass vaccination campaigns;it has reduced animal stress;it has en-hanced the comfort of vaccination;it has more effectively induced immune responses;and it has a-voided the risk of needle contamination,thereby lowering the infection rate.However,NFI has also faced challenges such as high equipment costs,complex operation,and the need to improve market acceptance.Future research directions have focused on the development of new vaccines and adju-vants as well as the design and optimization of needle-free injectors to enhance their universality and safety among different populations.In summary,NFI has provided an important solution for the innovation of vaccine delivery systems by improving vaccination comfort and immune efficacy and has offered theoretical basis and technical references for its industrial development.

Needle-free injection(NFI)has emerged as a novel vaccine delivery technology,utilizing high-pressure jet streams to deliver vaccines into intradermal or subcutaneous tissues.In recent years,the application of this technology in the fields of medicine and veterinary medicine has a-chieved significant progress.Compared with traditional needle injection,the core advantages of NFI have been highlighted in several aspects:it has significantly improved vaccination efficiency,mak-ing it particularly suitable for mass vaccination campaigns;it has reduced animal stress;it has en-hanced the comfort of vaccination;it has more effectively induced immune responses;and it has a-voided the risk of needle contamination,thereby lowering the infection rate.However,NFI has also faced challenges such as high equipment costs,complex operation,and the need to improve market acceptance.Future research directions have focused on the development of new vaccines and adju-vants as well as the design and optimization of needle-free injectors to enhance their universality and safety among different populations.In summary,NFI has provided an important solution for the innovation of vaccine delivery systems by improving vaccination comfort and immune efficacy and has offered theoretical basis and technical references for its industrial development.

This experiment was conducted to study the effects of replacing feed protein by Herme-tia illucens larvae meal on immune function,intestinal morphology and microflora of Sichuan white geese.A total of 64 healthy 1-day-old Sichuan white geese were randomly allocated into 4 groups with 4 replicates in each group and 4 geese in each replicate,namely the control group,the 2％HILM,4％HILM and 8％HILM groups fed diets contained 0％,2％,4％and 8％of HILM,re-spectively.The experimental period was 40 days.The results showed that compared with the con-trol group,8％HILM increased the levels of serum IgG1,IgG2a and complement C3,and the difference was statistically significant(P＜0.01).4％HILM significantly increased the expression level of CD4(P＜0.05),and 8％HILM significantly increased the expression level of IL-10(P＜0.05).The ratio of villus length to crypt depth(VH/CD)in the jejunum and ileum in 4％HILM group was significantly increased(P＜0.05).The SIgA level of jejunum was significantly increased in all HILM replacement groups(P＞0.05).The abundance of Bacteroides in 4％HILM group were extremely significantly increased(P＜0.01),and the abundance of Bilophila and Bilophila wadsworthia were significantly decreased in all HILM replacement groups(P＜0.05).In conclu-sion,HILM can enhance the immune function of Sichuan white geese,improve the intestinal mor-phology of jejunum and ileum,enhance the local mucosal immunity of jejunum,increase the abun-dance of beneficial bacteria in cecum and decrease the abundance of harmful bacteria in cecum,and protect intestinal health.

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.

Objective To investigate the association between UGT1A1 inhibitors-induced liver injury(DILI)and UGT1A1 gene polymorphisms through a pharmacogenomics approach.Methods Information on relevant drugs that may induce liver injury,blood routine tests,and liver function tests was collected from hospitalized patients diagnosed with DILI between June 2022 and June 2024.Relevant databases were searched to categorize DILI-associated drugs into UGT1A1 enzyme inhibitors and those without interaction with UGT1A1.Sanger sequenc-ing or MassARRAY SNP typing technology was utilized to detect and genotype the UGT1A1 gene.Results A total of 219 patients with drug-induced liver injury(DILI)were enrolled,including 98 males,with a mean age of 46.32±14.95 years.A literature search of relevant databases revealed that 20 drugs(16.26%,20/123)associated with DILI had inhibitory effects on the UGT1A1 enzyme.The proportion of DILI cases related to UGT1A1 inhibitors was 60.73%(133/219).Compared to non-UGT1A1 inhibitor-related DILI group,the UGT1A1 inhibitor-related DILI group exhibited significantly higher levels of ALT,AST,ALP,and GGT(P<0.05),while no significant differences were observed in age,gender,TBIL,IBIL,WBC,Hb,PLT,injury type,or injury grade(P>0.05).The prevalence of UGT1A1 polymorphisms was significantly higher in the UGT1A1 inhibitor-related DILI group(68.42%)com-pared to the non-UGT1A1 inhibitor-related DILI group(51.16%),with an odds ratio(OR)of 2.068(95%CI:1.183 to 3.617;χ2=6.58,P=0.010).There was also a significant difference in the distribution of genotypes between the UGT1A1 inhibitor-related and non-UGT1A1 inhibitor-related DILI groups(χ2=9.60,P=0.022).Univariate logistic regression analysis indicated that ALT and UGT1A1*6 were associated with UGT1A1 inhibitor-related DILI,while multivariate analysis confirmed that UGT1A1*6 was independently associated with UGT1A1 inhibitor-related DILI[OR(95%CI)=3.143(1.398 to 7.067),P=0.006].Conclusion The UGT1A1*6 allele increases the susceptibility to drug-induced liver injury(DILI)associated with UGT1A1 inhibitory drugs.