1.Etiology spectrum, clinical features, and gene mutations of unexplained intrahepatic cholestasis: An analysis of 62 cases
Jialuo WANG ; Yufeng ZHENG ; Qingfang XIONG ; Yongfeng YANG
Journal of Clinical Hepatology 2025;41(2):307-313
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.
2.An analysis of the disease burden of acute viral hepatitis in China and globally from 1990 to 2021
Siwei ZHENG ; Shasha LI ; Jialuo WANG ; Yiran LIU ; Yongfeng YANG
Journal of Clinical Hepatology 2025;41(10):2013-2021
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.
3.Guideline for Adult Weight Management in China
Weiqing WANG ; Qin WAN ; Jianhua MA ; Guang WANG ; Yufan WANG ; Guixia WANG ; Yongquan SHI ; Tingjun YE ; Xiaoguang SHI ; Jian KUANG ; Bo FENG ; Xiuyan FENG ; Guang NING ; Yiming MU ; Hongyu KUANG ; Xiaoping XING ; Chunli PIAO ; Xingbo CHENG ; Zhifeng CHENG ; Yufang BI ; Yan BI ; Wenshan LYU ; Dalong ZHU ; Cuiyan ZHU ; Wei ZHU ; Fei HUA ; Fei XIANG ; Shuang YAN ; Zilin SUN ; Yadong SUN ; Liqin SUN ; Luying SUN ; Li YAN ; Yanbing LI ; Hong LI ; Shu LI ; Ling LI ; Yiming LI ; Chenzhong LI ; Hua YANG ; Jinkui YANG ; Ling YANG ; Ying YANG ; Tao YANG ; Xiao YANG ; Xinhua XIAO ; Dan WU ; Jinsong KUANG ; Lanjie HE ; Wei GU ; Jie SHEN ; Yongfeng SONG ; Qiao ZHANG ; Hong ZHANG ; Yuwei ZHANG ; Junqing ZHANG ; Xianfeng ZHANG ; Miao ZHANG ; Yifei ZHANG ; Yingli LU ; Hong CHEN ; Li CHEN ; Bing CHEN ; Shihong CHEN ; Guiyan CHEN ; Haibing CHEN ; Lei CHEN ; Yanyan CHEN ; Genben CHEN ; Yikun ZHOU ; Xianghai ZHOU ; Qiang ZHOU ; Jiaqiang ZHOU ; Hongting ZHENG ; Zhongyan SHAN ; Jiajun ZHAO ; Dong ZHAO ; Ji HU ; Jiang HU ; Xinguo HOU ; Bimin SHI ; Tianpei HONG ; Mingxia YUAN ; Weibo XIA ; Xuejiang GU ; Yong XU ; Shuguang PANG ; Tianshu GAO ; Zuhua GAO ; Xiaohui GUO ; Hongyi CAO ; Mingfeng CAO ; Xiaopei CAO ; Jing MA ; Bin LU ; Zhen LIANG ; Jun LIANG ; Min LONG ; Yongde PENG ; Jin LU ; Hongyun LU ; Yan LU ; Chunping ZENG ; Binhong WEN ; Xueyong LOU ; Qingbo GUAN ; Lin LIAO ; Xin LIAO ; Ping XIONG ; Yaoming XUE
Chinese Journal of Endocrinology and Metabolism 2025;41(11):891-907
Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.
4.The diagnostic value of preoperative PET-CT examination for lymph node metastasis in early non-small cell lung cancer
Jia LI ; Qingwu ZHAO ; Yongfeng LI ; Jicai CHEN ; Yuan ZHENG ; Yu LIN ; Dongqun LIN ; Huanqi MO
Chongqing Medicine 2025;54(10):2386-2390
Objective To evaluate the diagnostic value of preoperative positron emission computed-tomography(PET-CT)examination for lymph node metastasis in early non-small cell lung cancer(NSCLC).Methods A total of 232 early-stage NSCLC patients who underwent preoperative PET-CT examination and radical surgery for lung cancer in the hospital from January 2019 to April 2023 were selected.Clinical data,PET-CT examination results,and lymph node dissection pathology were collected to calculate the sensitivity,specificity,accuracy,positive predictive value and negative predictive value of PET-CT diagnosis of NSCLC lymph node metastasis.The maximum standard uptake value(SUVmax)of the primary lesion and the predic-tive value of lymph node SUVmax for early NSCLC lymph node metastasis were evaluated by the receiver op-erating characteristic(ROC)curve.Results The accuracy of PET-CT examination in the diagnosis of NSCLC was 95.69%,the accuracy of lymph node metastasis diagnosis was 85.78%,the sensitivity was 35.56%,the specificity was 97.86%,the positive predictive value was 80.00%,and the negative predictive value was 86.32%.There was a statistically significant difference in the detection rate of PET-CT examination and path-ological results among pulmonary nodules of different natures and sizes(P<0.01).For predicting lymph node metastasis in NSCLC,the cutoff point of SUVmax in the primary lesion was 3.83(P<0.001),and the cutoff point of SUVmax in lymph nodes was 3.07(P<0.001).Conclusion In early NSCLC,preoperative PET-CT examination has a high diagnostic accuracy for ground glass nodule lymph node metastasis,but its di-agnostic value for solid nodule lymph node metastasis is limited and insufficient to guide lymph node dissec-tion.Primary lesion SUVmax≥3.83 or lymph node SUVmax≥3.07 are high-risk factors for early lymph node metastasis in lung cancer.
5.Guideline for Adult Weight Management in China
Weiqing WANG ; Qin WAN ; Jianhua MA ; Guang WANG ; Yufan WANG ; Guixia WANG ; Yongquan SHI ; Tingjun YE ; Xiaoguang SHI ; Jian KUANG ; Bo FENG ; Xiuyan FENG ; Guang NING ; Yiming MU ; Hongyu KUANG ; Xiaoping XING ; Chunli PIAO ; Xingbo CHENG ; Zhifeng CHENG ; Yufang BI ; Yan BI ; Wenshan LYU ; Dalong ZHU ; Cuiyan ZHU ; Wei ZHU ; Fei HUA ; Fei XIANG ; Shuang YAN ; Zilin SUN ; Yadong SUN ; Liqin SUN ; Luying SUN ; Li YAN ; Yanbing LI ; Hong LI ; Shu LI ; Ling LI ; Yiming LI ; Chenzhong LI ; Hua YANG ; Jinkui YANG ; Ling YANG ; Ying YANG ; Tao YANG ; Xiao YANG ; Xinhua XIAO ; Dan WU ; Jinsong KUANG ; Lanjie HE ; Wei GU ; Jie SHEN ; Yongfeng SONG ; Qiao ZHANG ; Hong ZHANG ; Yuwei ZHANG ; Junqing ZHANG ; Xianfeng ZHANG ; Miao ZHANG ; Yifei ZHANG ; Yingli LU ; Hong CHEN ; Li CHEN ; Bing CHEN ; Shihong CHEN ; Guiyan CHEN ; Haibing CHEN ; Lei CHEN ; Yanyan CHEN ; Genben CHEN ; Yikun ZHOU ; Xianghai ZHOU ; Qiang ZHOU ; Jiaqiang ZHOU ; Hongting ZHENG ; Zhongyan SHAN ; Jiajun ZHAO ; Dong ZHAO ; Ji HU ; Jiang HU ; Xinguo HOU ; Bimin SHI ; Tianpei HONG ; Mingxia YUAN ; Weibo XIA ; Xuejiang GU ; Yong XU ; Shuguang PANG ; Tianshu GAO ; Zuhua GAO ; Xiaohui GUO ; Hongyi CAO ; Mingfeng CAO ; Xiaopei CAO ; Jing MA ; Bin LU ; Zhen LIANG ; Jun LIANG ; Min LONG ; Yongde PENG ; Jin LU ; Hongyun LU ; Yan LU ; Chunping ZENG ; Binhong WEN ; Xueyong LOU ; Qingbo GUAN ; Lin LIAO ; Xin LIAO ; Ping XIONG ; Yaoming XUE
Chinese Journal of Endocrinology and Metabolism 2025;41(11):891-907
Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.
6.Experts consensus on standard items of the cohort construction and quality control of temporomandibular joint diseases (2024)
Min HU ; Chi YANG ; Huawei LIU ; Haixia LU ; Chen YAO ; Qiufei XIE ; Yongjin CHEN ; Kaiyuan FU ; Bing FANG ; Songsong ZHU ; Qing ZHOU ; Zhiye CHEN ; Yaomin ZHU ; Qingbin ZHANG ; Ying YAN ; Xing LONG ; Zhiyong LI ; Yehua GAN ; Shibin YU ; Yuxing BAI ; Yi ZHANG ; Yanyi WANG ; Jie LEI ; Yong CHENG ; Changkui LIU ; Ye CAO ; Dongmei HE ; Ning WEN ; Shanyong ZHANG ; Minjie CHEN ; Guoliang JIAO ; Xinhua LIU ; Hua JIANG ; Yang HE ; Pei SHEN ; Haitao HUANG ; Yongfeng LI ; Jisi ZHENG ; Jing GUO ; Lisheng ZHAO ; Laiqing XU
Chinese Journal of Stomatology 2024;59(10):977-987
Temporomandibular joint (TMJ) diseases are common clinical conditions. The number of patients with TMJ diseases is large, and the etiology, epidemiology, disease spectrum, and treatment of the disease remain controversial and unknown. To understand and master the current situation of the occurrence, development and prevention of TMJ diseases, as well as to identify the patterns in etiology, incidence, drug sensitivity, and prognosis is crucial for alleviating patients′suffering.This will facilitate in-depth medical research, effective disease prevention measures, and the formulation of corresponding health policies. Cohort construction and research has an irreplaceable role in precise disease prevention and significant improvement in diagnosis and treatment levels. Large-scale cohort studies are needed to explore the relationship between potential risk factors and outcomes of TMJ diseases, and to observe disease prognoses through long-term follw-ups. The consensus aims to establish a standard conceptual frame work for a cohort study on patients with TMJ disease while providing ideas for cohort data standards to this condition. TMJ disease cohort data consists of both common data standards applicable to all specific disease cohorts as well as disease-specific data standards. Common data were available for each specific disease cohort. By integrating different cohort research resources, standard problems or study variables can be unified. Long-term follow-up can be performed using consistent definitions and criteria across different projects for better core data collection. It is hoped that this consensus will be facilitate the development cohort studies of TMJ diseases.
7.Correlation between functional striatal abnormalities scores and symptoms and cognitive function in patients with schizophrenia
Zheng LI ; Qing LIU ; Xiaoge GUO ; Xiujuan WANG ; Xi SU ; Yongfeng YANG ; Wenqiang LI ; Luxian LYU
Journal of Xinxiang Medical College 2024;41(7):640-644
Objective To explore the correlation between functional striatal abnormalities(FSA)scores and symptoms and cognitive function in patients with schizophrenia.Methods A total of 92 patients with schizophrenia admitted to the Second Affiliated Hospital of Xinxiang Medical University from July 2021 to February 2022 were selected as the research subjects,15 patients were excluded due to excessive interference with head movement during image data analysis,and 77 patients were finally included in the statistical analysis.The cognitive function of the patients before treatment and after 8 weeks of treatment was evaluated through a set of cognitive function tests.The severity of symptoms before treatment and after 8 weeks of treatment was evaluated according to the positive and negative symptom scale(PANSS).The patients were divided into the ineffective group(PANSS<50%,n=33)and the effective group(PANSS ≥ 50%,n=44)according to the PANSS reduction rate.Before treatment and 8 weeks after treatment,the resting-state functional magnetic resonance imaging scans were performed,and FSA scores were calculated.Results There was no significant difference in FSA scores of patients between the effective group and the ineffective group before treatment(P>0.05).After 8 weeks of treatment,the FSA scores of patients in the two groups were significantly higher than those before treatment(P<0.05).After 8 weeks of treatment,there was no significant difference in FSA scores of patients between the effective group and the ineffective group(P>0.05).Before treatment and after 8 weeks of treatment,there was no significant correlation between the FSA scores and the total PANSS scores,positive factor scores,negative factor scores and pathological factor scores in the two groups(P>0.05).There was no significant corre-lation between the pre-treatment FSA scores and the differences in positive factor scores,negative factor scores and pathological factor scores before and after treatment in both groups(P>0.05).In the effective group,the FSA score was significantly nega-tively correlated with the spatial span score(P<0.05)and significantly positively correlated with the category fluency score(P<0.05)before treatment;however,there was no significant correlation between the pre-treatment FSA score and the scores of trail making,symbol coding,word learning,maze solving,visuospatial memory,2-digit continuous performance,3-digit continuous performance and 4-digit continuous performance(P>0.05).In the ineffective group,there was a significant negative correlation between the pre-treatment FSA score and the spatial span and 4-digit continuous performance scores(P<0.05),while there was no significant correlation between the pre-treatment FSA score and the scores of trail making,symbol coding,word learning,maze solving,visuospatial memory,category fluency,2-digit continuous performance and 3-digit continuous performance(P>0.05).There was no significant correlation between the FSA score and cognitive function scores after treat-ment in the effective group(P>0.05).There was a significant positive correlation between the FSA score and the trail making score after treatment in the ineffective group(P<0.05),but there was no significant correlation between the FSA score and the scores of symbol coding,word learning,spatial span,maze solving,visuospatial memory,category fluency,2-digit continuous performance,3-digit continuous performance and 4-digit continuous performance(P>0.05).Conclusion FSA scores in patients with schizophrenia increase significantly after treatment.FSA scores may not be related to the severity of symptoms or treatment response,but are correlated with the cognitive function of information processing speed.
8.Construction and practice of intelligent management mode for hospital clinical research based on collaborative governance
Bingwei WANG ; Liang MA ; Ruoyan HAN ; Changpeng LIU ; Yuan WANG ; Zhenhui LIU ; Yongfeng CHEN ; Mingming ZHAO ; Yan ZHENG ; Yanyan LIU
Chinese Journal of Hospital Administration 2024;40(9):666-671
Promoting the transformation and development of public hospitals into clinical research-oriented hospitals is the necessary way for China to deepen the reform of medicine and health system. In August 2019, Henan Cancer Hospital deeply combined the key elements of clinical research management with the concept of multidisciplinary collaborative governance, created an offline operating end of collaborative governance (including the front collaborative recruitment system, the middle collaborative quality management system, and the terminal collaborative transformation system), built a supporting internet plus intelligent auxiliary end (including the intelligent recruitment manager, the intelligent quality manager and the intelligent transformation manager), and built a clinical research intelligent management mode covering the trinity of subject recruitment, clinical research quality control, and innovation achievements transformation. The hospital focused on management elements such as " focusing on quality, improving efficiency, and increasing motivation" , and drove the front, middle, and terminal ends of the model to work together, to ensure the quality and efficiency of clinical research and achieve a comprehensive improvement in the hospital′s clinical research level. As of December 2023, the hospital had undertaken over 2 000 clinical research projects of various types, with a cumulative amount of clinical research conversion contracts exceeding 53 million yuan. This practice had achieved good results and could provided references for other tertiary public hospitals to promote high-quality development of clinical research.
9.Diagnostic value of a combined serology-based model for minimal hepatic encephalopathy in patients with compensated cirrhosis
Shanghao LIU ; Hongmei ZU ; Yan HUANG ; Xiaoqing GUO ; Huiling XIANG ; Tong DANG ; Xiaoyan LI ; Zhaolan YAN ; Yajing LI ; Fei LIU ; Jia SUN ; Ruixin SONG ; Junqing YAN ; Qing YE ; Jing WANG ; Xianmei MENG ; Haiying WANG ; Zhenyu JIANG ; Lei HUANG ; Fanping MENG ; Guo ZHANG ; Wenjuan WANG ; Shaoqi YANG ; Shengjuan HU ; Jigang RUAN ; Chuang LEI ; Qinghai WANG ; Hongling TIAN ; Qi ZHENG ; Yiling LI ; Ningning WANG ; Huipeng CUI ; Yanmeng WANG ; Zhangshu QU ; Min YUAN ; Yijun LIU ; Ying CHEN ; Yuxiang XIA ; Yayuan LIU ; Ying LIU ; Suxuan QU ; Hong TAO ; Ruichun SHI ; Xiaoting YANG ; Dan JIN ; Dan SU ; Yongfeng YANG ; Wei YE ; Na LIU ; Rongyu TANG ; Quan ZHANG ; Qin LIU ; Gaoliang ZOU ; Ziyue LI ; Caiyan ZHAO ; Qian ZHAO ; Qingge ZHANG ; Huafang GAO ; Tao MENG ; Jie LI ; Weihua WU ; Jian WANG ; Chuanlong YANG ; Hui LYU ; Chuan LIU ; Fusheng WANG ; Junliang FU ; Xiaolong QI
Chinese Journal of Laboratory Medicine 2023;46(1):52-61
Objective:To investigate the diagnostic accuracy of serological indicators and evaluate the diagnostic value of a new established combined serological model on identifying the minimal hepatic encephalopathy (MHE) in patients with compensated cirrhosis.Methods:This prospective multicenter study enrolled 263 compensated cirrhotic patients from 23 hospitals in 15 provinces, autonomous regions and municipalities of China between October 2021 and August 2022. Clinical data and laboratory test results were collected, and the model for end-stage liver disease (MELD) score was calculated. Ammonia level was corrected to the upper limit of normal (AMM-ULN) by the baseline blood ammonia measurements/upper limit of the normal reference value. MHE was diagnosed by combined abnormal number connection test-A and abnormal digit symbol test as suggested by Guidelines on the management of hepatic encephalopathy in cirrhosis. The patients were randomly divided (7∶3) into training set ( n=185) and validation set ( n=78) based on caret package of R language. Logistic regression was used to establish a combined model of MHE diagnosis. The diagnostic performance was evaluated by the area under the curve (AUC) of receiver operating characteristic curve, Hosmer-Lemeshow test and calibration curve. The internal verification was carried out by the Bootstrap method ( n=200). AUC comparisons were achieved using the Delong test. Results:In the training set, prevalence of MHE was 37.8% (70/185). There were statistically significant differences in AMM-ULN, albumin, platelet, alkaline phosphatase, international normalized ratio, MELD score and education between non-MHE group and MHE group (all P<0.05). Multivariate Logistic regression analysis showed that AMM-ULN [odds ratio ( OR)=1.78, 95% confidence interval ( CI) 1.05-3.14, P=0.038] and MELD score ( OR=1.11, 95% CI 1.04-1.20, P=0.002) were independent risk factors for MHE, and the AUC for predicting MHE were 0.663, 0.625, respectively. Compared with the use of blood AMM-ULN and MELD score alone, the AUC of the combined model of AMM-ULN, MELD score and education exhibited better predictive performance in determining the presence of MHE was 0.755, the specificity and sensitivity was 85.2% and 55.7%, respectively. Hosmer-Lemeshow test and calibration curve showed that the model had good calibration ( P=0.733). The AUC for internal validation of the combined model for diagnosing MHE was 0.752. In the validation set, the AUC of the combined model for diagnosing MHE was 0.794, and Hosmer-Lemeshow test showed good calibration ( P=0.841). Conclusion:Use of the combined model including AMM-ULN, MELD score and education could improve the predictive efficiency of MHE among patients with compensated cirrhosis.
10.Etiological spectrum and clinical features of patients with unexplained liver disease manifesting as isolated jaundice: An analysis of 91 cases
Yufeng ZHENG ; Xulei ZHANG ; Yuhang WENG ; Yongfeng YANG
Journal of Clinical Hepatology 2023;39(5):1105-1109
Objective To investigate the etiological and clinical features of patients with unexplained liver disease manifesting as isolated jaundice and the value of whole-exome sequencing in the diagnosis of such diseases. Methods A retrospective analysis was performed for the clinical data of the patients who attended Nanjing Second Hospital due to unexplained liver disease and underwent whole-exome sequencing from February 2017 to December 2021, and according to liver function parameters and imaging data, all cases were classified based on clinical phenotype and were diagnosed based on the whole-exome sequencing report. The Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups, and the Kruskal-Wallis H test was used for comparison between multiple groups. Results A total of 519 patients underwent whole-exome sequencing, among whom 102 patients with missing or incomplete clinical data were excluded, and finally 417 patients were included in analysis, among whom 91(91/417, 21.82%) had the manifestation of isolated jaundice. The etiology of jaundice was not determined by whole-exome sequencing in 8 patients (8/91, 8.79%). With reference to genetic testing results, 83 patients (83/91, 91.21%) had a confirmed diagnosis, among whom there were 68 patients with hereditary hyperbilirubinemia (68/91, 74.72%), 3 patients with hereditary spherocytosis (3/91, 3.30%), 2 patients with pyruvate kinase deficiency (2/91, 2.20%), and 10 patients with UGT1A1 gene disease combined with other diseases (10/91, 10.99%). Hereditary hyperbilirubinemia was the main etiology, and there were 61 patients with UGT1A1 gene disease (61/91, 67.03%), 5 patients with Dubin-Johnson syndrome (5/91, 5.49%) and 2 patients with Rotor syndrome (2/91, 2.20%). There was a significant difference in indirect bilirubin/total bilirubin ratio between the patients with the different diagnoses above ( H =22.835, P < 0.05), and the patients with UGT1A1 gene disease and other diseases had a significantly higher level of total bilirubin than those with UGT1A1 gene disease alone [95.8 (37.5-187.1) μmol/L vs 51.4 (34.8-267.1) μmol/L, Z =-2.372, P =0.018]. Conclusion Whole-exome sequencing can help with the diagnosis of most cases of unexplained liver disease manifesting as isolated jaundice. Hereditary hyperbilirubinemia is the main etiology, and UGT1A1 gene disease is the most common disease. Whole-exome sequencing can assist the clinical diagnosis of unexplained liver disease manifesting as isolated jaundice.

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