1.Dilemmas and challenges in the clinical diagnosis of Wilson disease
Journal of Clinical Hepatology 2026;42(3):509-514
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.
2.Clinical features of muscle changes and related risk factors in patients with porto-sinusoidal vascular disorder
Ruijia LI ; Yuxiang GONG ; Yu ZHANG ; Shasha LI ; Yongfeng YANG
Journal of Clinical Hepatology 2026;42(3):639-646
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.
3.Survey on iodine nutrition status of pregnant women in Hubei Province
Zhen WANG ; Biyun ZHANG ; Yongfeng HU ; Conggang ZHOU ; Jin YANG ; Yi LI ; Huailan GUO ; Yong ZHANG ; Jinlin LEI
Chinese Journal of Endemiology 2025;44(1):25-29
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.
4.Risk factors and predictive model for intraoperative parathyroid injury in thyroid cancer surgery
Qingfeng WANG ; Jingjing LU ; Shenglin LU ; Yuan WANG ; Yongfeng WU ; Mingfu ZHANG
Journal of Clinical Surgery 2025;33(8):832-835
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.
5.Scrotal pedicled flap reconstruction for extensive penile ulcers induced by granulomatosis with polyangiitis
Baoqiang LI ; Hu HAN ; Hao WANG ; Guojiang ZHAO ; Yongfeng ZHANG ; Long TIAN
Chinese Journal of Urology 2025;46(7):549-550
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.
6.Establish and application of intelligent management system for ICD coding of diseases and procedures
Yun LI ; Yongfeng LIU ; Ke YANG ; Wenzhong HOU ; Qi ZHANG
Modern Hospital 2025;25(3):438-441
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.
7.Trend of Incidence Rates of Gallbladder Cancer in Qi-dong City of Jiangsu Province from 1972 to 2021
Yuanyou XU ; Yonghui ZHANG ; Lulu DING ; Yongsheng CHEN ; Jun WANG ; Yongfeng YAN ; Jianguo CHEN ; Jian ZHU
China Cancer 2025;34(4):290-296
[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.
8.Establish and application of intelligent management system for ICD coding of diseases and procedures
Yun LI ; Yongfeng LIU ; Ke YANG ; Wenzhong HOU ; Qi ZHANG
Modern Hospital 2025;25(3):438-441
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.
9.Risk Identification Model of Coronary Artery Stenosis Constructed Based on Random Forest
Yongfeng LV ; Yujing WANG ; Leyi ZHANG ; Yixin LI ; Na YUAN ; Jing TIAN
Journal of Sun Yat-sen University(Medical Sciences) 2025;46(1):138-146
[Objective]To establish a risk recognition model for coronary artery stenosis by using a machine learning method and to identify the key causative factors.[Methods]Patients aged≥18 years,diagnosed with coronary heart disease through coronary angiography from January 2013 to May 2020 in two prominent hospitals in Shanxi Province,were continuously enrolled.Logistic regression,back propagation neural network(BPNN),and random forest(RF)algorithms were used to construct models for detecting the causative factors of coronary artery stenosis.Sensitivity(TPR),specificity(TNR),accuracy(ACC),positive predictive value(PV+),negative predictive value(PV-),area under subject operating characteristic curve(AUC),and calibration curve were used to compare the discrimination and calibration performance of the models.The best model was then employed to predict the main risk variables associated with coronary stenosis.[Results]The RF model exhibited superior comprehensive performance compared to logistic regression and BPNN models.The TPR values for logistic regression,BPNN,and RF models were 75.76%,74.30%,and 93.70%,while ACC values were 74.05%,72.30%,and 79.49%,respectively.The AUC values were:logistic regression 0.739 9;BPNN 0.723 1;RF 0.752 2.Manifestations such as chest pains,abnormal ST segments on ECG,ventricular premature beats with hypertension,atrial fibrillation,regional wall motion abnormalities(RWMA)by color echocardiography,aortic regurgitation(AR),pulmonary insufficiency(PI),family history of cardiovascular diseases,and body mass index(BMI)were identified as top ten important variables affecting coronary stenosis according to the RF model.[Conclusions]Random forest model shows the best comprehensive performance in identification and accurate assessment of coronary artery stenosis.The prediction of risk factors affecting coronary artery stenosis can provide a scientific basis for clinical intervention and help to formulate further diagnosis and treatment strategies so as to delay the disease progression.
10.Study on the Mechanism of Action of Auricular Electroacupuncture on Depression-Like Behaviors in Acute Stress Disorder Mice
Xuanyu ZHANG ; Jing HAN ; Li LIN ; Yusu SHI ; Linyu SHI ; Yongfeng LI
World Science and Technology-Modernization of Traditional Chinese Medicine 2025;27(5):1267-1276
Objective To observe the effects of electroacupuncture auricular acupuncture points on depression-like behaviors and ventral dorsal tegmental area(VTA)TH,DRD1 and DRD2 induced in well acute stress disorder(ASD)mice.Methods Experiment 1:18 male C57 mice were divided into 9 control and 9 model mice.Behavioural paradigms such as forced swimming test(FST)and tail suspension test(TST)were used to detect depression-like behaviors in the mice starting on day 5 and day 36;double-labelled staining for immediate early gene protein(C-Fos)and tyrosine hydroxylase(TH)was detected in the VTA of the mice by immunofluorescence.Experiment 2:45 male C57 mice were divided into 15 mice each in the control groups,model groups and electroacupuncture groups.30 days after completion of the electroacupuncture intervention,the mice were tested for depressive behaviors using behavioural paradigms such as FST and TST;dopamine receptor D1(DRD1)and dopamine receptor D2(DRD2)was detected in the VTA of mice in each group using fluorescence quantitative PCR and Western blot techniques;the number of TH neurons in the brain area of the VTA of mice was observed by immunofluorescence.Results Experiment 1:Compared with the control group,the immobile duration of the model group increased in the TST(P<0.001)and FST(P<0.001)on day 5 and day 6,and the immobile duration of the model group increased in the TST(P<0.01)and FST(P<0.01)on day 36 and day 37;compared with the control group,the number of C-Fos and TH fluorescence double-labelled neurons in the model group increased(P<0.05).Experiment 2:At day after completion of the electroacupuncture intervention,the immobile duration of TST(P<0.01)and FST(P<0.01)were decreased in the electroacupuncture group compared with the model group;compared with the control group,DRD1 mRNA(P<0.001)and protein expression(P<0.01)were increased in the VTA of the electroacupuncture group,and DRD2 mRNA(P<0.001)and protein expression(P<0.05)were decreased,TH protein expression(P<0.05)increased,and the number of TH neurons increased(P<0.01).Conclusion Early intervention with auricular electroacupuncture points has an ameliorative effect on depression-like behaviors induced by acute stress disorder in mice,which may be achieved by modulating the activity level of dopaminergic neurons and the expression level of DRD1 and DRD2 in the VTA.

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