1.Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes
Siqian GONG ; Hong LIAN ; Yating LI ; Xiaoling CAI ; Wei LIU ; Yingying LUO ; Meng LI ; Si-min ZHANG ; Rui ZHANG ; Lingli ZHOU ; Yu ZHU ; Qian REN ; Xiuying ZHANG ; Jing CHEN ; Jing WU ; Xianghai ZHOU ; Xirui WANG ; Xueyao HAN ; Linong JI
Diabetes & Metabolism Journal 2025;49(2):321-330
Background:
Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients.
Methods:
Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines.
Results:
Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher.
Conclusion
MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.
2.Coral calcium hydride promotes peripheral mitochondrial division and reduces AT-Ⅱ cells damage in ARDS via activation of the Trx2/Myo19/Drp1 pathway
Qian LI ; Yang ANG ; Qing-Qing ZHOU ; Min SHI ; Wei CHEN ; Yujie WANG ; Pan YU ; Bing WAN ; Wanyou YU ; Liping JIANG ; Yadan SHI ; Zhao LIN ; Shaozheng SONG ; Manlin DUAN ; Yun LONG ; Qi WANG ; Wentao LIU ; Hongguang BAO
Journal of Pharmaceutical Analysis 2025;15(3):610-624
Acute respiratory distress syndrome(ARDS)is a common respiratory emergency,but current clinical treatment remains at the level of symptomatic support and there is a lack of effective targeted treatment measures.Our previous study confirmed that inhalation of hydrogen gas can reduce the acute lung injury of ARDS,but the application of hydrogen has flammable and explosive safety concerns.Drinking hydrogen-rich liquid or inhaling hydrogen gas has been shown to play an important role in scavenging reactive oxygen species and maintaining mitochondrial quality control balance,thus improving ARDS in patients and animal models.Coral calcium hydrogenation(CCH)is a new solid molecular hydrogen carrier prepared from coral calcium(CC).Whether and how CCH affects acute lung injury in ARDS re-mains unstudied.In this study,we observed the therapeutic effect of CCH on lipopolysaccharide(LPS)induced acute lung injury in ARDS mice.The survival rate of mice treated with CCH and hydrogen inhalation was found to be comparable,demonstrating a significant improvement compared to the untreated ARDS model group.CCH treatment significantly reduced pulmonary hemorrhage and edema,and improved pulmonary function and local microcirculation in ARDS mice.CCH promoted mitochon-drial peripheral division in the early course of ARDS by activating mitochondrial thioredoxin 2(Trx2),improved lung mitochondrial dysfunction induced by LPS,and reduced oxidative stress damage.The results indicate that CCH is a highly efficient hydrogen-rich agent that can attenuate acute lung injury of ARDS by improving the mitochondrial function through Trx2 activation.
3.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.
4.Research on improving the compliance of liver cancer early screening follow-up in patients with chronic liver diseases through follow-up management based on digital information platform
Wei WANG ; Yuxian KUANG ; Yingfang YANG ; Zhenjiao SU ; Ningning FAN ; Min TANG ; Biyun ZHOU ; Liqiao WU
Modern Clinical Nursing 2025;24(5):49-55
Objective To explore the effect of follow-up management based on the digital information platform on the compliance of early screening and follow-up of liver cancer in patients with chronic liver diseases,and to provide a management method for clinical practice.Methods Convenience sampling was adopted to include 3,959 patients who had chronic liver diseases and visited the outpatient clinic of the Department of Infectious Liver Diseases in our hospital from January 2022 to December 2023.Before the application of the digital information platform for management,it was the medical staff of the Infectious Liver Disease Department who conducted telephone follow-ups and handwritten registrations for patients with chronic liver diseases within one week after their visits.After management,A liver cancer prediction model installed in the digital information platform of the hospital automatically collected data of the patients,including information about the diseases and results of examinations for intelligent risk stratification of liver cancer.The nurses who were in charge of the follow-up performed individualised follow-up reviews based on the levels of risk.Follow-up re-visit rate of the patients in very high-and high-risks were calculated.Scores of chronic disease self-efficacy and medication compliance were compared before and at 3 months after the follow-up management.Results A total of 3,860 patients completed the study.After the follow-up management,the total follow-up re-visit rate of the patients was 88.2%(1,818/2,062)and that of the high-risk patients was 95.3%(246/258)in 2022,while those in 2023 were 94.0%(1,691/1,798)and 98.3%(232/236),respectively.After 3 months of follow-up management,scores for medication compliance and chronic disease self-efficacy showed significant improvement in comparison with those before the implementation of follow-up management(P<0.001).Conclusion The follow-up management based on a digital information platform is suitable for screening of early liver cancer in the patients with chronic liver diseases,as it improves the re-visit rate of patients for follow-up,medication compliance and self-efficacy.
5.Conformational Epitope Mapping of C-Reactive Protein in Solution by Hydrogen/Deuterium Exchange Mass Spectrometry
Hao-Feng SUN ; Jian-Yi LIU ; Qi ZHANG ; Hui JIAO ; Min ZHOU ; De-Wei SONG
Chinese Journal of Analytical Chemistry 2025;53(4):631-639
C-Reactive protein(CRP)is an important acute-phase response protein,which is widely used in the assessment of inflammation and cardiovascular disease risk,and acts as a pathogenic factor directly involved in the disease process of certain conditions.Therefore,developing immunosuppressants targeting CRP or investigating its pathogenic mechanisms is of significant importance.Most B-cell epitopes are conformational epitopes,and studying conformational epitopes is typically challenging.To date,no methods have been reported for mapping the conformational epitopes of CRP in solution.In this study,a rapid strategy was developed for studying conformational epitopes by combining hydrogen/deuterium exchange mass spectrometry(HDX-MS)with multiparametric prediction of B-cell epitopes and protein secondary structure analysis.This approach was successfully applied to the binding sites and allosteric targets of the 115 kDa full pentameric CRP and the clinically used monoclonal antibody(mAb)5A8.The results showed that the amino acid residues 84-103,138-146,and 165-173 together form the potential conformational epitopes for mAb 5A8 on CRP,while the amino acid residues 21-32 and 175-178 were identified as potential allosteric targets.The discovery of the mAb 5A8 binding sites and allosteric targets was crucial for improving clinical diagnostic capabilities.Experimental results demonstrated that this workflow allowed rapid conformational epitope mapping of CRP under near-physiological conditions,with advantages such as high speed,high sensitivity,and high throughput.
6.High Resolution Liquid Chromatography-Mass Spectrometry Combined with Forced Degradation and Nuclear Magnetic Resonance for Analysis of Novel Impurity in Torasemide Injection and Evaluation of Impact of Residual Oxygen Levels on Its Formation
Hai-Wei YE ; Li-Ping ZHOU ; Min LI ; Jin-Sheng LIN
Chinese Journal of Analytical Chemistry 2025;53(10):1732-1740,中插54-中插57
Drug impurity control is essential for ensuring pharmaceutical quality.In this study,an unknown impurity at relative retention time(RRT)of 0.45 in Torasemide injection was systematically investigated using high performance liquid chromatography-ion trap time-of-flight mass spectrometry(LC-IT-TOF-MS/MS),forced degradation studies,and nuclear magnetic resonance(NMR)spectroscopy,aiming to elucidate its chemical structure,propose a formation mechanism,and establish a control strategy.By analysis of the ultraviolet absorption spectrum and high-resolution MS1 and MS2 data of the impurity,its possible structure was postulated.Subsequently,the target impurity was prepared via forced degradation experiment,and its structure was confirmed by NMR spectroscopy.A detailed analysis of its formation mechanism revealed that Torasemide first hydrolyzed in solution to form Torasemide sulfonamide,and then underwent condensation,dehydration,and cyclization reactions with trace amounts of formaldehyde in the excipient polyethylene glycol(PEG)400 to generate the impurity.It was experimentally proven that the target impurity was related to the residual oxygen content in Torasemide injection.Ultimately,by optimizing the prescription process,the target impurity level was controlled below the individual impurity limit of the final product(≤0.3%).This study provided valuable insights for enhancing the quality control of Torasemide injection.
7.Advances in diseases associated with thyroid hormone transporter deficiency
Wei LI ; Min ZHU ; Bei HAN ; Fen LU ; Qiaoli ZHOU
International Journal of Pediatrics 2025;52(2):117-121
Thyroid hormone(TH)plays an important role in human development and is involved in gene and protein expression in almost all tissues,especially in the development of the central nervous system.TH requires a TH transporter to enter the cell,and three families of TH transporter proteins are known,namely monocarboxylate transporters(MCTs),organic anion transporting polypeptides(OATPs)and L-type amino acid transporter(LAT).MCT8 has been found to be a specific TH transporter,and OATP1C1 also plays an important role.Deficiency of TH transporters may lead to different degrees of dysfunction in the nervous system and endocrine system.Currently,more studies have been conducted on MCT8 deficiency,which presents with characteristic psychomotor retardation and TH abnormalities,and there are no specific treatment options.In this paper,we summarize the research progress on clinical phenotype,pathogenic mechanism,and treatment of thyroid hormone transporter defects related diseases to provide reference for clinical research.
8.Research on the prevalence of overweight and obesity among children
Xinyi LIANG ; Jingnan CHEN ; Xuelian ZHOU ; Ruimin CHEN ; Jingsi LUO ; Rongxiu ZHENG ; Chunxiu GONG ; Chunlin WANG ; Zhe SU ; Mireguli MAIMAITI ; Yan LIANG ; Hui YAO ; Haiyan WEI ; Hongwei DU ; Shaoke CHEN ; Yu YANG ; Feihong LUO ; Pin LI ; Min ZHU ; Wei WU ; Ke HUANG ; Guanping DONG ; Junfen FU
Chinese Journal of Pediatrics 2025;63(6):612-619
Objective:To investigate the prevalence and risk factors of overweight and obesity among Chinese children aged 3-18 years from 11 provinces, antonomous regions, or municipalities.Methods:This national cross-sectional community health survey utilized a multistage stratified cluster-random sampling method to recruit 193 997 nationally representative participants from 11 provinces, autonomous regions, or municipalities between January 2017 and December 2019. All participants underwent physical examinations, and their caregivers completed questionnaires assessing participants′ dietary, lifestyle, familial, and perinatal information. Multilevel multinomial logistic regression models were employed to identify the potential risk factors.Results:The cohort comprised 193 997 children (102 178 boys, 91 819 girls),aged (10±4) years. Overall prevalence rates were 30 574(15.8%)overweight children and 17 217(8.9%) obesity children. Boys exhibited higher overweight and obesity rates than girls (17.0% (17 368/102 178) vs. 14.4% (13 206/102 178), 11.3% (11 553/91 819) vs. 6.2% (5 664/91 819), χ2=249.12,1 578.69,both P<0.001). The detection rates of obesity in Tanner stage 2 and 3 were the highest in boys and girls, with 13.4%(2 231/16 665) and 8.6%(880/10 221) respectively. Risk factors for obesity included parental overweight (paternal OR=2.34 and maternal OR=2.29), annual household income of 100 000-200 000 yuan (compared with<100 000 yuan, OR=1.04), higher paternal education (compared with below high school,high school and a college education OR=1.09,1.14), birth weight >4.0 kg (≤5 and>5 years old OR=1.74, 1.44,respectively), and western food consumption≥1 time/month (compared with<1, 1-2, 3-4,>4 times/month OR=1.36, 1.30, 1.67(≤5 years), 1.19, 1.16, 1.15 (>5 years), respectively) (all P<0.05). Conversely, coarse grain intake≥1 times/week (compared with<1 times/week, every day, 3-4, 1-2 times/week OR=0.74, 0.80, 0.71 (≤5 years), 0.75, 0.87, 0.90(>5 years), respectively, all P<0.05) was associated with reduced obesity risk. Conclusions:Obesity epidemiology in children demonstrates significant heterogeneity across age, gender, geographic regions, and pubertal stages. It is necessary to establish a personalized prevention and control strategy.
9.The efficacy and safety of high-frequency irreversible electroporation for benign prostatic hyperplasia: a randomized controlled open-label multicenter trial
Liang DONG ; Zhen TONG ; Benkang SHI ; Qianyuan ZHUANG ; Yuanwei LI ; Min GONG ; Xiaoming XU ; Shengcai ZHOU ; Xulai TAO ; Xinxing DU ; Haifeng WANG ; Jian HUANG ; Wei XUE
Chinese Journal of Urology 2025;46(3):161-165
Objective:To investigate the efficacy and safety of high-frequency irreversible electroporation (H-FIRE) in treating benign prostatic hyperplasia (BPH).Methods:This randomized controlled open-label multicenter clinical trial enrolled patients from nine medical centers in China between August 2020 and July 2022. Inclusion criteria: age 50–80 years, International Prostate Symptom Score (IPSS) ≥12, maximum urinary flow rate (Q max) >5 ml/min and ≤15 ml/min. Exclusion criteria: prostate malignancy, contraindications to surgery or anesthesia. Patients were randomized 1∶1 into the H-FIRE group (experimental) or the control group (daily oral 0.2 mg tamsulosin hydrochloride sustained-release capsules). Primary outcomes included Q max, IPSS, prostate volume, and International Index of Erectile Function-5 (IIEF-5) scores, measured at baseline, 1 and 3 months post-treatment. Results:A total of 160 cases were included in this study, including 80 cases in the experimental group and 80 cases in the control group, 30 cases in Renji Hospital, 7 cases in Qilu Hospital of Shandong University, 8 cases in Tongji Hospital, 3 cases in Hunan Provincial Hospital, 13 cases in Shanghai Pudong Hospital, 29 cases in Hwa Mei Hospital, 18 cases in Yiyuan County People's Hospital, and 38 cases in Shanghai East Hospital, and 14 cases in Sun Yat-sen Memorial Hospital. At 3 months of post-treatment, Q max in the experimental group increased by a median of 7.50 (3.55, 14.50) ml/s from the baseline value, whereas in the control group it increased by a median of 1.70 (-1.40, 6.00) ml/s, and the difference between the two groups was statistically significant ( P < 0.01, U = 1 083); and at 3 months of post-treatment, IPSS in the experimental group decreased by a median of 12.00 (7.00, 17.00) points in the test group and 6.00 (2.00, 11.00) points in the control group, and the magnitude of improvement in IPSS scores in the test group was significantly higher than that in the control group ( P < 0.01, U = 1 248); at 3 months of post-treatment, the prostate volume decreased by a median of 12.16 (5.69, 18.27) ml in the experimental group and 0 (-3.94, 6.89) ml in the control group, suggesting that H-FIRE significantly reduced prostate gland volume ( P<0.01, U=1 111). The difference in elevated IIEF-5 scores from baseline at 3 months of treatment between the experimental and control groups was not statistically significant[0(-2.00, 1.00) points vs. 0(-2.00, 1.50) points; P=0.54, U=2 338]. There were no serious adverse events in the two groups. Conclusions:H-FIRE could significantly improve both subjective and objective symptoms of BPH with a low risk of severe complications.
10.National clinical three-tiered surveillance and stratified precision detection report on respiratory infectious pathogens in 2024
Jingwen AI ; Jikui DENG ; Min DONG ; Xiaohong GAO ; Jiawei GENG ; Xiaoli HU ; Zhu JIN ; Hongyan LIU ; Yongzhong LI ; Xi LIU ; Yuanwang QIU ; Lihong QU ; Binhuang SUN ; Wei SONG ; Hongyu WANG ; Junping WANG ; Sen WANG ; Xiaoming XIONG ; Daokun YANG ; Liaoyun ZHANG ; Yanliang ZHANG ; Xianghong ZHOU ; Wenhong ZHANG
Chinese Journal of Infectious Diseases 2025;43(2):79-89
Objective:To analyze the epidemiological and clinical characteristics of respiratory pathogens in China.Methods:This study was a cross-sectional study, which encompassed 19 core units of the clinical pathogen network and established a three-tiered clinical pathogen surveillance system. Thirty respiratory samples were collected every two weeks from various units from January to December 2024, and the clinical and pathogen diagnostic information were gathered. A total of 11 864 samples were tested using this system. The tier-1 clinical pathogen surveillance system covered influenza A virus (Flu-A), influenza B virus (Flu-B), respiratory syncytial virus (RSV), and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The tier-2 clinical pathogen surveillance system focused on 18 key respiratory pathogens. The tier-3 clinical pathogen surveillance system further clarified whether any emerging infectious diseases had occurred.Results:The tier-1 clinical pathogen surveillance system showed Flu-A predominated in December, Flu-B predominated in January, SARS-CoV-2 peaked in March and August, whereas RSV circulated sporadically throughout the year. Geographic trends were broadly consistent across the seven major regions, although Flu-A detection in December was notably higher in Northeast China (48.1%(111/231)) and East China (36.2%(148/409)), and RSV detection was concentrated in the Northwest and South China from January to March. Data from the tier-2 clinical pathogen surveillance system indicated that Streptococcus pneumoniae, Mycoplasma pneumoniae, rhinovirus, and adenovirus were detected year-round, of these, Streptococcus pneumoniae and rhinovirus showed elevated positive detection rates from August to September, while adenovirus peaked in January. Legionella pneumophila was not detected throughout the year, and other pathogens fluctuated throughout the year without a consistent pattern. The predominant etiologic agents of pediatric pneumonia were Mycoplasma pneumoniae (35.0%(105/300)), rhinovirus (25.7%(77/300)), and adenovirus (17.3%(52/300)), whereas adult pneumonia was mainly caused by Streptococcus pneumoniae (10.5%(29/277)), Staphylococcus aureus (6.9%(19/277)), Mycoplasma pneumoniae (6.9%(19/277)), and Flu-A (6.1%(17/277)). The tier-3 clinical pathogen surveillance system did not identify any emerging respiratory pathogens. Conclusion:Respiratory pathogens in China in 2024 exhibit distinct temporal and spatial distribution patterns and vary among different populations.

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