1.Intervention effect analysis of TPMT and NUDT15 genotyping on the tolerability of azathioprine or 6-mercaptopurine therapy in pediatric inflammatory bowel disease
Youyou LUO ; Qi CHENG ; Youhong FANG ; Jindan YU ; Luojia XU ; Yu YU ; Jie CHEN
Chinese Journal of Pediatrics 2025;63(6):630-636
Objective:To investigate the impact of pre-treatment TPMT and NUDT15 genotyping on medication selection, tolerability and discontinuation rates of azathioprine or 6-mercaptopurine therapy in children with inflammatory bowel disease (IBD).Methods:A retrospective cohort study was conducted on 181 children with IBD who were scheduled for azathioprine or 6-mercaptopurine therapy at the Department of Gastroenterology, Children′s Hospital, Zhejiang University School of Medicine between January 2010 and January 2023. Among them, 168 children who received treatment were divided into a genotyped group and non-genotyped group based on pre-treatment TPMT and NUDT15 genotyping. The incidence of drug-related adverse reactions was compared between the two groups. The impact of genotyping on medication selection and discontinuation rates was analyzed. Chi-square test or Fisher exact test were used for intergroup comparisons. Logistic regression analysis was used to control the confounding factors. Firth Logistic regression analysis was applied for data with complete separation. The probability of discontinuation was assessed using survival analysis with Cox proportional hazards modeling.Results:Among the 181 children with IBD, 13 did not receive azathioprine or 6-mercaptopurine due to genetic variants, while the remaining 168 underwent the therapy (154 cases of Crohn′s disease and 14 cases ulcerative colitis; 108 males and 60 females). Excluding the 13 untreated cases, 77 children underwent TPMT and NUDT15 genotyping were assigned to the genotyped group, and the remaining 91 to the non-genotyped group. Adverse reactions included myelosupression (26 cases,15.5%), hepatotoxicity (18 cases,10.7%), gastrointestinal disturbance (25 cases,14.9%), alopecia (12 cases,7.1%), fever (3 cases,1.8%), rash (2 cases,1.2%), and pancreatitis (1 case,0.6%). The incidence of overall adverse reactions was significantly higher in the non-genotyped group compared to that of the genotyped group (40.7% (37/91) vs. 26.0% (20/77), P<0.05). Specifically, the non-genotyped group had a higher rate of gastrointestinal reactions compared to the genotyped group (24.2% (22/91) vs. 3.3% (3/77), P<0.01). Cox regression analysis revealed that non-genotyped group had a higher risk of treatment discontinuation due to the adverse reactions ( HR=1.47, 95% CI 0.65-3.30). Conclusion:Pre-treatment genotyping of TPMT and NUDT15 variants can help guide the selection of clinical drugs, reduce the incidence of drug-related adverse reactions and enhance tolerability of azathioprine or 6-mercaptopurine therapy in IBD children.
2.Clinical features and genetic study of four cases of pediatric acute liver failure caused by NBAS gene variants
Jindan YU ; Hong ZHAO ; Youhong FANG ; Youyou LUO ; Jingan LOU ; Jie CHEN
Chinese Journal of Hepatology 2025;33(2):170-176
Objective:To analyze the clinical and genetic features of four children with pediatric acute liver failure (PALF) caused by neuroblastoma-amplified sequence ( NBAS) gene variant, as well as the correlation between clinical phenotype and genotype. Methods:The clinical data and genetic test results of four children with NBAS gene variants admitted to the Department of Gastroenterology, Children's Hospital Affiliated to Zhejiang University School of Medicine from August 2015 to June 2023 mainly presenting with pediatric acute liver failure (PALF) were retrospectively analyzed. The relevant literature from January 2015 to May 2024 was retrieved using the Chinese and English keywords " NBAS," "neuroblastoma amplified sequence," "SOPH," "short stature with optic nerve atrophy and Pelger Hu?t anomaly," "liver failure," and "neuroblastoma amplified sequence" indexed in the CNKI database, Wanfang Data Knowledge Service Platform, and PubMed database. The clinical features and gene mutation characteristics of domestic patients were summarized. Results:The age at which the initial PALF attack occurred in the four children varied from eight months to three years and seven months. All patients developed PALF within 1-2 days after the onset of fever, with symptoms such as vomiting, convulsions, and mental depression or confusion, accompanied by a sharp increase in transaminases, elevated bilirubin and blood ammonia, hyperlactatemia, and hepatomegaly. The PALF gradually improved, and three pediatric patients showed extrahepatic manifestations following antipyretic, fluid replacement, and other symptomatic supportive treatment. Long-term follow-up showed that active temperature control and symptomatic therapy reduced the recurrence of PALF. Genetic testing identified eight kinds of NBAS gene variants sites. Family testing validated compound heterozygous variants, which included four missense variants, one nonsense variants, and three frameshift mutations. A literature study revealed that out of 51 Chinese patients with NBAS gene variants, 98.0% (50/51) had liver involvement, and 37 cases showed PALF. A total of 61 mutation sites were identified, with c.3596G>A (45.1%, 23/51) as a hotspot variants. Conclusions:PALF caused by NBAS gene variant has obvious clinical and genetic characteristics, and there is a correlation between genotype and clinical phenotype. The c.3596G>A variant site is a hotspot mutation in China and is strongly correlated with the liver failure phenotype.
3.Establishment of a database for liver cancer ablation and its clinical research value
Yanchun LUO ; Manlin LANG ; Ping LIANG ; Jie YU
Chinese Journal of Hepatology 2025;33(7):709-714
The liver cancer ablation specialized disease database is an important tool for interventional practitioners to collect data and conduct scientific research for patients. This article will exemplify the application of a database for liver cancer ablation based on the establishment of a standardized structured disease database so as to elaborate its application in clinical and scientific research. The goal is to improve the management level of ablation data through the construction of specialized disease databases, providing a reference for clinical doctors and researchers in building ablation databases, and promoting the application of specialized disease databases in clinical research.
4.Development and test of an integrated automatic quality control system for HDR afterloader
Chunli LUO ; Jie ZHANG ; Longtao XIE ; Yuliang SUN ; Lang YU ; Jie QIU
China Medical Equipment 2025;22(5):38-41
Objective:An integrated automatic quality control system(automatic quality control instrument)for high dose rate(HDR)afterloader was independently developed.This system was used to measure the placement accuracy,residence time and activity of the radioactive source,so as to assess the accuracy and stability of this system in quality assurance.Methods:The automatic quality control system was connected to the Flexitron type of HDR afterloader through a connecting tube.Quality assurance(QA)plans with different resident positions,clearances,and times were designed for measurement and verification.The measurement length was 1079-1119 mm,and the measurement time was 2-10 s,and the measurement activity was 14,326-28,653 μGy·m2·h-1.The measurements were repeated once per one week in three months,so as to determine the consistency of the measurement parameters in a longer period of time.The measurement results of the placement accuracy,resident time and activity of radioactive source of the HDR 192Ir radioactive source were analyzed.Results:The plate ionization chamber was used to measure the activity of radioactive source.In three months,the measurement deviation of the activity of radioactive source was 1.17%,and the fitted activity decay curve was consistent with the expected decay curve of radioactive source.The measurement accuracies of the positioning of radioactive source were respectively 0.46,0.18,0.23,0.25,and 0.15 mm when the interval step sizes of resident times were respectively 2,3,5,8,and 10 mm,all of them were<1 mm.The measurement accuracy of time was(4.90±0.04)s when the resident time was 5 s.In the measurement accuracy of different resident times(1,2,3,5 and 10s)of same step size,the deviation of them was less than 0.5s.When the resident time was the shortest,the deviation between the read-out value of the automatic system software of quality control and the actually resident time was(0.09±0.04)s.The measurement accuracy gradually stabilized with the increasing of resident times.Conclusion:The automatic quality control instrument can complete the measurements for the positioning accuracy,the accuracy of resident time and the activity of radioactive source,and achieve rapidly and accurately periodic quality assurance.
5.Strategies Study on DRG Subdivision of Gastrointestinal Surgery Cases
Hongxing YU ; Xinru ZHAO ; Mingju WANG ; Fuxing LI ; Rui TIAN ; Qin LUO ; Jin ZHANG ; Jie LUO
Chinese Hospital Management 2025;45(5):92-96
Objective To explore strategies for further subdivision of DRG in gastrointestinal surgery cases,providing references to enhance the differentiation of DRG subgroups.Methods A total of 5 108 gastrointestinal surgery cases were selected from a tertiary grade A hospital and a tertiary hospital in Hubei Province,spanning from January 2019 to June 30,2023,and another secondary hospital's data from 2020 and 2021.It employs single factor analysis and multiple linear regression analysis to identify factors influencing case costs.Additionally,the opinions of nine clinicans were gathered regarding factors affecting resource consumption in gastrointestinal surgery cases.The four selected case groups were further subdivided considers the peak characteristics of disease costs.It compares subdivided groups with the DRG Payment Subgroups Scheme(Version 2.0).Results Groups GB1,GB2,GC1,and GC2 were subdivided into 7,4,7,and 6 DRG groups,respectively.The coefficient of variation of each subdivided DRG were reduced,homogeneity was increased,and inter-group differentiation was increased.The results were consistent with the DRG Payment Subgroups Scheme(Version 2.0).Conclusion Based on DRG grouping,the DRG groups can be further subdivided according to the peak characteristics presented by case costs.This subdivision strategy is helpful to provide new ideas for case grouping of Medicare payment.
6.Evidence-based clinical practice guideline for bone cement-augmented pedicle screw technique (version 2025)
Sihao HE ; Junchao XING ; Tongwei CHU ; Zhengqi CHANG ; Xigao CHENG ; Fei DAI ; Xiaobing JIANG ; Jie HAO ; Jiang HU ; Jinghui HUANG ; Tianyong HOU ; Fei LUO ; Bo LIAO ; Changqing LI ; Lei LIU ; Guodong LIU ; Peng LIU ; Sheng LU ; Weishi LI ; Yang LIU ; Zhen LIU ; Wei MEI ; Peifu TANG ; Bing WANG ; Bing WANG ; Ce WANG ; Hongli WANG ; Liang WANG ; Shengru WANG ; Xiaobin WANG ; Yang WANG ; Yingfeng WANG ; Zheng WANG ; Jianzhong XU ; Guoyong YIN ; Haiyang YU ; Qiang YANG ; Zhaoming YE ; Bin ZHANG ; Chengmin ZHANG ; Jun ZOU ; Qiang ZHOU ; Min ZHAO ; Rui ZHOU ; Xiaojun ZHANG ; Yongfei ZHAO ; Zhongrong ZHANG ; Zehua ZHANG ; Yingze ZHANG
Chinese Journal of Trauma 2025;41(11):1035-1047
For middle-aged and elderly patients with conditions such as spinal fractures and degenerative spinal diseases, spinal internal fixation is a core surgical procedure for reconstructing spinal stability, heavily relying on the biomechanical stability provided by pedicle screw systems. Whereas, these patients are often complicated by osteoporosis that can significantly compromise the stability of the bone-pedicle screw interface, leading to a marked increase in pedicle screw loosening and surgical failure rates. The bone cement-augmented pedicle screw technique, which involves injecting bone cement into the vertebral body or screw trajectory to optimize the mechanical properties of the bone-pedicle screw composite, has been proven to significantly enhance fixation strength and effectively prevent screw-related failures, thereby reducing the incidence of internal fixation failure in high-risk populations undergoing spinal fusion. However, the widespread clinical application of this technique has faced challenges such as inaccurate clinical decision-making (indication and contraindication selection), non-standardized operative practices, and insufficient awareness of complication prevention, resulting in considerable variability in clinical outcomes and even severe complications. To address this, Prof. Luo Fei from First Affiliated Hospital of Army Medical University initiated the project and the Chinese Association Orthopaedic Surgeons organized relevant experts to develop the Evidence-based clinical practice guideline for bone cement-augmented pedicle screw technique ( version 2025), based on current evidence. The guidelines put forward 8 recommendations regarding the clinical value, scope of application, and operational standards of the technique, aiming to provide evidence-based medical support and technical standardization for clinical decision-making.
7.Expert Consensus on the Ethical Requirements for Generative AI-Assisted Academic Writing
You-Quan BU ; Yong-Fu CAO ; Zeng-Yi CHANG ; Hong-Yu CHEN ; Xiao-Wei CHEN ; Yuan-Yuan CHEN ; Zhu-Cheng CHEN ; Rui DENG ; Jie DING ; Zhong-Kai FAN ; Guo-Quan GAO ; Xu GAO ; Lan HU ; Xiao-Qing HU ; Hong-Ti JIA ; Ying KONG ; En-Min LI ; Ling LI ; Yu-Hua LI ; Jun-Rong LIU ; Zhi-Qiang LIU ; Ya-Ping LUO ; Xue-Mei LV ; Yan-Xi PEI ; Xiao-Zhong PENG ; Qi-Qun TANG ; You WAN ; Yong WANG ; Ming-Xu WANG ; Xian WANG ; Guang-Kuan XIE ; Jun XIE ; Xiao-Hua YAN ; Mei YIN ; Zhong-Shan YU ; Chun-Yan ZHOU ; Rui-Fang ZHU
Chinese Journal of Biochemistry and Molecular Biology 2025;41(6):826-832
With the rapid development of generative artificial intelligence(GAI)technologies,their widespread application in academic research and writing is continuously expanding the boundaries of sci-entific inquiry.However,this trend has also raised a series of ethical and regulatory challenges,inclu-ding issues related to authorship,content authenticity,citation accuracy,and accountability.In light of the growing involvement of AI in generating academic content,establishing an open,controllable,and trustworthy ethical governance framework has become a key task for safeguarding research integrity and maintaining trust within the academic community.This expert consensus outlines ethical requirements across key stages of AI-assisted academic writing-including topic selection,data management,citation practices,and authorship attribution.It aims to clarify the boundaries and ethical obligations surrounding AI use in academic writing,ensuring that technological tools enhance efficiency without compromising in-tegrity.The goal is to provide guidance and institutional support for building a responsible and sustainable research ecosystem.
8.A preclinical evaluation and first-in-man case for transcatheter edge-to-edge mitral valve repair using PulveClip® transcatheter repair device.
Gang-Jun ZONG ; Jie-Wen DENG ; Ke-Yu CHEN ; Hua WANG ; Fei-Fei DONG ; Xing-Hua SHAN ; Jia-Feng WANG ; Ni ZHU ; Fei LUO ; Peng-Fei DAI ; Zhi-Fu GUO ; Yong-Wen QIN ; Yuan BAI
Journal of Geriatric Cardiology 2025;22(2):265-269
9.Analysis of nutritional status before and after different induction therapies in children with Crohn's disease.
Lei-Lei CHEN ; Yu YU ; You-You LUO ; Jie CHEN
Chinese Journal of Contemporary Pediatrics 2025;27(6):702-708
OBJECTIVES:
To study the impact of different induction remission therapies on the nutritional status of children with Crohn's disease (CD).
METHODS:
A retrospective analysis was conducted on the medical data of 188 children with CD who received induction remission therapy at the Children's Hospital, Zhejiang University School of Medicine from January 2013 to May 2023. The effects of three induction remission therapies-exclusive enteral nutrition (EEN), corticosteroids, and infliximab (IFX)-on height, weight, hemoglobin, and trace elements were compared.
RESULTS:
After induction remission therapy, the weight-for-age Z scores and serum levels of hemoglobin and albumin in all three groups significantly increased (P<0.05), while the height-for-age Z scores showed no change (P>0.05). The levels of folic acid, 25-hydroxy vitamin D, serum iron, and total calcium increased, and serum copper levels decreased in the EEN and IFX groups (P<0.05). Vitamin B12 levels improved in the EEN group (P<0.05).
CONCLUSIONS
EEN, corticosteroids, and IFX may effectively improve the weight-for-age Z scores and serum levels of hemoglobin and albumin in children with CD. EEN and IFX seem to be superior to corticosteroid therapy in improving 25-hydroxy vitamin D, folic acid, serum iron, and total calcium levels.
Humans
;
Crohn Disease/blood*
;
Child
;
Male
;
Female
;
Retrospective Studies
;
Adolescent
;
Nutritional Status
;
Infliximab/therapeutic use*
;
Child, Preschool
;
Enteral Nutrition
;
Adrenal Cortex Hormones/therapeutic use*
10.Clinical application of single-balloon and double-balloon enteroscopy in pediatric small bowel diseases: a retrospective study of 576 cases.
Can-Lin LI ; Jie-Yu YOU ; Yan-Hong LUO ; Hong-Juan OU-YANG ; Li LIU ; Wen-Ting ZHANG ; Jia-Qi DUAN ; Na JIANG ; Mei-Zheng ZHAN ; Chen-Xi LIU ; Juan ZHOU ; Ling-Zhi YUAN ; Hong-Mei ZHAO
Chinese Journal of Contemporary Pediatrics 2025;27(7):822-828
OBJECTIVES:
To evaluate the effectiveness of single-balloon and double-balloon enteroscopy in diagnosing pediatric small bowel diseases and assess the diagnostic efficacy of computed tomography enterography (CTE) for small bowel diseases using enteroscopy as the reference standard.
METHODS:
Clinical data from 576 children who underwent enteroscopy at Hunan Children's Hospital between January 2017 and December 2023 were retrospectively collected. The children were categorized based on enteroscopy type into the single-balloon enteroscopy (SBE) group (n=457) and double-balloon enteroscopy (DBE) group (n=119), and the clinical data were compared between the two groups. The sensitivity and specificity of CTE for diagnosing small bowel diseases were evaluated using enteroscopy results as the standard.
RESULTS:
Among the 576 children, small bowel lesions were detected by enteroscopy in 274 children (47.6%).There was no significant difference in lesion detection rates or complication rates between the SBE and DBE groups (P>0.05), but the DBE group had deeper insertion, longer procedure time, and higher complete small bowel examination rate (P<0.05). The complication rate during enteroscopy was 4.3% (25/576), with 18 cases (3.1%) of mild complications and 7 cases (1.2%) of severe complications, which improved with symptomatic treatment, surgical, or endoscopic intervention. Among the 412 children who underwent CTE, the sensitivity and specificity for diagnosing small bowel diseases were 44.4% and 71.3%, respectively.
CONCLUSIONS
SBE and DBE have similar diagnostic efficacy for pediatric small bowel diseases, but DBE is preferred for suspected deep small bowel lesions and comprehensive small bowel examination. Enteroscopy in children demonstrates relatively good overall safety. CTE demonstrates relatively low sensitivity but comparatively high specificity for diagnosing small bowel diseases.
Retrospective Studies
;
Treatment Outcome
;
Double-Balloon Enteroscopy/statistics & numerical data*
;
Single-Balloon Enteroscopy/statistics & numerical data*
;
Humans
;
Male
;
Female
;
Child
;
Operative Time
;
Tomography, X-Ray Computed/statistics & numerical data*
;
Sensitivity and Specificity
;
Intestine, Small/surgery*
;
Intestinal Diseases/surgery*

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