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.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.
4.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.
5.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.
6.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.
7.Effects of Hermetia illucens larvae meal on immune function,intestinal morphol-ogy and microflora of Sichuan white geese
Dezhi ZHANG ; Xifeng LI ; Fuxing GUI ; Chonghua ZHONG ; Huan HUANG ; Pingrui YANG ; Yongfeng HAO ; Liting CAO
Chinese Journal of Veterinary Science 2025;45(2):369-378
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.
8.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.
9.Unilateral biportal endoscopy assisted bilateral decompression in the treatment of lumbar disc herniation with imaging herniation on one side and clinical symptoms on the contralateral side
Weiliang SU ; Yongfeng DOU ; Dong LIU ; Guohua DAI ; Min ZHANG ; Jianqiang XING ; Dawei WANG ; Peng HU ; Xiaopeng GENG
Chinese Journal of Orthopaedics 2025;45(1):44-50
Objective:To observe the clinical efficacy of unilateral biportal endoscopy (UBE) assisted bilateral decompression in the treatment of lumbar disc herniation with imaging herniation on one side and clinical symptoms on the contralateral side.Methods:A total of 20 patients with lumbar disc herniation with imaging herniation on one side and clinical symptoms on the contralateral side treated with UBE from January 2022 to January 2024 in the Affiliated Hospital of Binzhou Medical University were retrospectively analyzed. There were 9 males and 11 females, aged 50.4±14.0 years (range, 23-72 years). The intervertebral disc herniation level included L 3-4 in 1 case, L 4-5 in 15 cases, and L 5S 1 in 4 cases. There were 10 cases on the left side and 10 cases on the right side. The duration of symptoms was 24.1±33.7 months (range, 1-120 months). Visual analogue scale (VAS) and Oswestry disability index (ODI) were used to evaluate postoperative pain relief and functional recovery. The clinical efficacy was evaluated by modified MacNab criteria at 6 months after operation. Results:All patients successfully completed the operation. The operation time was 90.3±24.6 min (range, 55-134 mins). The VAS scores of patients at 3 days, 1 month, 3 months and 6 months after operation were 3.6±0.9, 2.2±0.7, 1.2±0.5 and 1.0±0.6, respectively, which were lower than those before operation (6.4±0.8), and the differences were statistically significant ( F=668.728, P<0.001). The ODI at 3 days, 1 month, 3 months and 6 months after operation were 34.2%±4.7%, 28.7%±2.8%, 24.3%±2.1% and 20.5%±2.0%, respectively, which were lower than 69.4%±5.2% before operation, and the differences were statistically significant ( F=515.578, P<0.001). The clinical efficacy was evaluated by modified MacNab criteria at 6 months after operation. Among 20 patients, 18 cases were excellent, 1 case was good, and 1 case was fair. All patients were followed up for 9.1±2.1 months (range, 6-14 months). One patient had a dural tear during the operation, but the range was small and there was no defect, and no further treatment was performed. Numbness of the lower limbs occurred 1 day after operation, and the symptoms disappeared after symptomatic treatment. There was no recurrence of lower limb symptoms, lumbar instability, intervertebral space infection or other complications at the last follow-up. Conclusion:Bilateral decompression with UBE is effective in the treatment of lumbar disc herniation with imaging herniation on one side and clinical symptoms on the contralateral side, which can improve the lumbar pain and function of patients.
10.Effect of pneumoperitoneum on renal function after robotic-assisted laparoscopic kidney transplantation
Shuncheng TAN ; Jianchun CUI ; Xun SUN ; Yongfeng LI ; Yonglin SONG ; Shuxin LI ; Yinrui MA ; Xingyong MA ; Yafei ZHANG
Organ Transplantation 2025;16(2):295-301
Objective To investigate the effect of pneumoperitoneum pressure during robotic-assisted kidney transplantation (RAKT) on the function of the transplant kidney. Methods The data of 243 kidney transplant recipients were retrospectively analyzed and divided into open kidney transplantation (OKT) group (n=105) and RAKT group (n=138). The RAKT group was further divided into 13 mmHg group (n=67) and 7 mmHg group (n=71) based on pneumoperitoneum pressure. The donor information, recipient's preoperative general data, intraoperative data, and postoperative recovery of the three groups were compared. In the RAKT group, the renal artery, segmental artery, interlobar artery, and venous flow velocity of the transplant kidney were measured using laparoscopic ultrasound. Results There was a statistically significant difference in donor types among the groups (P<0.05), while other donor information and recipient's preoperative general data showed no statistically significant differences (all P>0.05). There were no statistically significant differences in serum creatinine and complications at 30 days and 1 year postoperatively among the groups (all P>0.05). The OKT group and 7 mmHg group had more intraoperative urine output than the 13 mmHg group. Both RAKT groups had less intraoperative blood loss and shorter hospital stays than the OKT group, and longer operation times than the OKT group (all P<0.05). There were no statistically significant differences in operation time, intraoperative blood loss, and hospital stay between the two RAKT groups (all P>0.05). The vascular flow velocity of the transplant kidney decreased at 13 mmHg compared to 7 mmHg pneumoperitoneum pressure, but the differences were not statistically significant (all P>0.05). Conclusions Controllable pneumoperitoneum pressure has a limited impact on the vascular flow velocity of the transplanted kidney. RAKT is a safe and effective surgical method under appropriate pneumoperitoneum pressure, and choosing a lower pneumoperitoneum pressure is more conducive to the early recovery of renal function postoperatively.

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