1.Identification of novel pathogenic variants in genes related to pancreatic β cell function: A multi-center study in Chinese with young-onset diabetes.
Fan YU ; Yinfang TU ; Yanfang ZHANG ; Tianwei GU ; Haoyong YU ; Xiangyu MENG ; Si CHEN ; Fengjing LIU ; Ke HUANG ; Tianhao BA ; Siqian GONG ; Danfeng PENG ; Dandan YAN ; Xiangnan FANG ; Tongyu WANG ; Yang HUA ; Xianghui CHEN ; Hongli CHEN ; Jie XU ; Rong ZHANG ; Linong JI ; Yan BI ; Xueyao HAN ; Hong ZHANG ; Cheng HU
Chinese Medical Journal 2025;138(9):1129-1131
2.Construction and value of maintenance model of ophthalmic equipment of hospital based on Delphi method
Guixin ZHANG ; Wei WANG ; Xueyao WANG ; Huimin CHEN ; Jianying YANG
China Medical Equipment 2025;22(5):137-141
Objective:To construct a maintenance model of ophthalmic equipment of hospital based on Delphi method,so as to provide a new idea in management for ophthalmic equipment.Methods:The maintenance evaluation system of ophthalmic equipment was constructed by Delphi method,and the analytic hierarchy process(AHP)was applied to determine weight of evaluation index of equipment so as to standardize the management for ophthalmic equipment.A total of thirty used equipment that related to diagnosis and treatment for eye disease in Eye Hospital of China Academy of Chinese Medical Sciences from January 2022 to January 2023 were selected.According to different management modes,the conventional management mode(15 equipment)and Delphi method management mode(15 devices)were adopted respectively to manage equipment.A self-made questionnaire was adopted to investigate the satisfaction degree of medical staffs of the department of ophthalmology,and staffs of purchasing equipment for clinical configuration and use of ophthalmic equipment.The standardization degree of operation management for ophthalmic equipment,operation quality of equipment and satisfaction of medical staffs for clinical configuration of the two management modes were compared.Results:The scores of standardization degree of operation,disinfection and sterilization,maintenance and fault repair were respectively(92.14±5.36),(90.56±6.23),(91.98±5.65)and(92.16±6.36)after the Delphi method were adopted,which were higher than these of conventional management mode,and the differences of them were statistically significant(t=14.809,14.627,16.126,14.872,P<0.05).The average"power on"rate,operation rate,pass rate of acceptance and growth amplitude of cost-benefit of ophthalmic equipment were respectively(90.23±2.05)%,(96.36±3.98)%and(7.66±1.69)%after management with Delphi method was adopted,all of which were higher than these of conventional management mode,and the differences of them were statistically significant(t=9.649,4.248,8.479,16.867,P<0.05).The satisfaction rates of medical staffs of ophthalmic department and staffs of purchasing equipment for the rationality of clinical allocation process,standardization of system and effectiveness of quality of ophthalmic department of adopting Delphi method management mode were respectively 93.33%,93.33%and 90%,all of which were higher than those of conventional management mode,and the differences were statistically significant(x2=7.952,6.667,7.200,P<0.05).Conclusion:The application of the maintenance model of ophthalmic equipment of hospital based on Delphi method can enhance the qualities of managing and operating equipment,and improve the service level of equipment in management for ophthalmic equipment.
3.Application and progress of scenario simulation exercise in the training of malignant hyperthermia management
Xiaona LIN ; Xueyao YU ; Jing ZHANG ; Hongcai ZHENG ; Haiming DU ; Yang ZHOU ; Xiangyang GUO ; Zhengqian LI
Chinese Journal of Integrated Traditional and Western Medicine in Intensive and Critical Care 2025;32(3):381-384
Malignant hyperthermia(MH)is a rare perioperative disease with autosomal dominant inheritance,and its pathogenesis involves specific gene mutations.Its clinical feature is that conventional anesthetics can trigger abnormally high metabolic reactions in skeletal muscles.Although the incidence of this disease is low,the condition is dangerous,progresses rapidly,and has a high mortality rate;Its treatment relies on early diagnosis,timely application of the specific drug Dantrolene Sodium,and rapid and orderly comprehensive symptomatic supportive treatment.MH is a critical perioperative emergency that can occur during surgery.It presents with symptoms such as hyperpyrexia,metabolic acidosis,rhabdomyolysis,and dysfunction of multiple organ systems.If not treated promptly,it can quickly lead to life-threatening arrhythmias and cardiac arrest.This condition serves as an essential teaching example in anesthesia crisis resource management.As an effective teaching method,scenario simulation exercises can comprehensively enhance medical staff's personal technical,non-technical,and teamwork abilities through simulating emergency scenarios,teaching assessments,and retrospective discussions,especially suitable for comprehensive management training of fatal diseases.Many countries internationally have incorporated simulation exercises for MH into their routine teaching and training systems.The effectiveness of teaching and training for anesthesiologists in MH and their ability to handle anesthesia crisis events have been continuously improved through a periodic training model.This article systematically reviews the research progress and practical experience of scenario simulation exercises in emergency training for MH,with a focus on exploring how to establish a scenario simulation exercise plan for emergency application and comprehensive symptomatic support treatment of Dantrolene Sodium based on the actual situation in China,providing reference for improving the teaching and training quality of MH and other clinical crisis events.
4.The association between hepatocyte nuclear factor 1A gene mutations and phenotypes of congenital hyperinsulinism and diabetes
Chaochao YANG ; Meng LI ; Linong JI ; Xueyao HAN
Chinese Journal of Diabetes 2025;33(6):406-413
Objective To explore the relationship between hepatocyte nuclear factor 1A(HNF1A)-associated congenital hyperinsulinism(CHI),HNF1A-maturity-onset diabetes of the young(MODY)and C-reactive protein(C-RP)levels.Methods PubMed,CNKI and Wanfang Data were searched for literature on HNF1A gene mutation published from inception to December 2023,and the genetic and clinical information of HNF1A mutation-related CHI and HNF1A-MODY were extracted.According to the clinical phenotypes,the HNF1A mutation sites included in the literature were divided into the Biphenotypic mutations(Biphenotypic,n=84)group and the DM phenotype-associated mutations(DM,n=378)group.The levels of C-RP and C-P were collected and compared in patients with HNF1A-MODY and T2DM by meta-analysis.Results A total of 9 articles about HNF1A mutation-related CHI were included,and 19 mutation sites were found to be associated with CHI.A total of 143 articles related to HNF1A-MODY were included,and 589 mutation sites were found to be associated with HNF1A-MODY.The age at diagnosis and 2 hPG were significantly lower in the Biphenotypic group than in the DM group(P<0.05).A total of 11 articles were included in the meta-analysis.Compared with T2DM patients,HNF1A-MODY patients had lower C-RP(MD-1.61,95%CI-1.96~-1.26,P<0.05)and lower C-P(MD-0.95,95%CI-1.87~-0.03,P<0.05).Conclusions CHI is an important clinical feature of HNF1A-MODY,and hyperinsulinemia may exist before the decline of islet β cell function.
5.The association between hepatocyte nuclear factor 1A gene mutations and phenotypes of congenital hyperinsulinism and diabetes
Chaochao YANG ; Meng LI ; Linong JI ; Xueyao HAN
Chinese Journal of Diabetes 2025;33(6):406-413
Objective To explore the relationship between hepatocyte nuclear factor 1A(HNF1A)-associated congenital hyperinsulinism(CHI),HNF1A-maturity-onset diabetes of the young(MODY)and C-reactive protein(C-RP)levels.Methods PubMed,CNKI and Wanfang Data were searched for literature on HNF1A gene mutation published from inception to December 2023,and the genetic and clinical information of HNF1A mutation-related CHI and HNF1A-MODY were extracted.According to the clinical phenotypes,the HNF1A mutation sites included in the literature were divided into the Biphenotypic mutations(Biphenotypic,n=84)group and the DM phenotype-associated mutations(DM,n=378)group.The levels of C-RP and C-P were collected and compared in patients with HNF1A-MODY and T2DM by meta-analysis.Results A total of 9 articles about HNF1A mutation-related CHI were included,and 19 mutation sites were found to be associated with CHI.A total of 143 articles related to HNF1A-MODY were included,and 589 mutation sites were found to be associated with HNF1A-MODY.The age at diagnosis and 2 hPG were significantly lower in the Biphenotypic group than in the DM group(P<0.05).A total of 11 articles were included in the meta-analysis.Compared with T2DM patients,HNF1A-MODY patients had lower C-RP(MD-1.61,95%CI-1.96~-1.26,P<0.05)and lower C-P(MD-0.95,95%CI-1.87~-0.03,P<0.05).Conclusions CHI is an important clinical feature of HNF1A-MODY,and hyperinsulinemia may exist before the decline of islet β cell function.
6.Construction and value of maintenance model of ophthalmic equipment of hospital based on Delphi method
Guixin ZHANG ; Wei WANG ; Xueyao WANG ; Huimin CHEN ; Jianying YANG
China Medical Equipment 2025;22(5):137-141
Objective:To construct a maintenance model of ophthalmic equipment of hospital based on Delphi method,so as to provide a new idea in management for ophthalmic equipment.Methods:The maintenance evaluation system of ophthalmic equipment was constructed by Delphi method,and the analytic hierarchy process(AHP)was applied to determine weight of evaluation index of equipment so as to standardize the management for ophthalmic equipment.A total of thirty used equipment that related to diagnosis and treatment for eye disease in Eye Hospital of China Academy of Chinese Medical Sciences from January 2022 to January 2023 were selected.According to different management modes,the conventional management mode(15 equipment)and Delphi method management mode(15 devices)were adopted respectively to manage equipment.A self-made questionnaire was adopted to investigate the satisfaction degree of medical staffs of the department of ophthalmology,and staffs of purchasing equipment for clinical configuration and use of ophthalmic equipment.The standardization degree of operation management for ophthalmic equipment,operation quality of equipment and satisfaction of medical staffs for clinical configuration of the two management modes were compared.Results:The scores of standardization degree of operation,disinfection and sterilization,maintenance and fault repair were respectively(92.14±5.36),(90.56±6.23),(91.98±5.65)and(92.16±6.36)after the Delphi method were adopted,which were higher than these of conventional management mode,and the differences of them were statistically significant(t=14.809,14.627,16.126,14.872,P<0.05).The average"power on"rate,operation rate,pass rate of acceptance and growth amplitude of cost-benefit of ophthalmic equipment were respectively(90.23±2.05)%,(96.36±3.98)%and(7.66±1.69)%after management with Delphi method was adopted,all of which were higher than these of conventional management mode,and the differences of them were statistically significant(t=9.649,4.248,8.479,16.867,P<0.05).The satisfaction rates of medical staffs of ophthalmic department and staffs of purchasing equipment for the rationality of clinical allocation process,standardization of system and effectiveness of quality of ophthalmic department of adopting Delphi method management mode were respectively 93.33%,93.33%and 90%,all of which were higher than those of conventional management mode,and the differences were statistically significant(x2=7.952,6.667,7.200,P<0.05).Conclusion:The application of the maintenance model of ophthalmic equipment of hospital based on Delphi method can enhance the qualities of managing and operating equipment,and improve the service level of equipment in management for ophthalmic equipment.
7.Application and progress of scenario simulation exercise in the training of malignant hyperthermia management
Xiaona LIN ; Xueyao YU ; Jing ZHANG ; Hongcai ZHENG ; Haiming DU ; Yang ZHOU ; Xiangyang GUO ; Zhengqian LI
Chinese Journal of Integrated Traditional and Western Medicine in Intensive and Critical Care 2025;32(3):381-384
Malignant hyperthermia(MH)is a rare perioperative disease with autosomal dominant inheritance,and its pathogenesis involves specific gene mutations.Its clinical feature is that conventional anesthetics can trigger abnormally high metabolic reactions in skeletal muscles.Although the incidence of this disease is low,the condition is dangerous,progresses rapidly,and has a high mortality rate;Its treatment relies on early diagnosis,timely application of the specific drug Dantrolene Sodium,and rapid and orderly comprehensive symptomatic supportive treatment.MH is a critical perioperative emergency that can occur during surgery.It presents with symptoms such as hyperpyrexia,metabolic acidosis,rhabdomyolysis,and dysfunction of multiple organ systems.If not treated promptly,it can quickly lead to life-threatening arrhythmias and cardiac arrest.This condition serves as an essential teaching example in anesthesia crisis resource management.As an effective teaching method,scenario simulation exercises can comprehensively enhance medical staff's personal technical,non-technical,and teamwork abilities through simulating emergency scenarios,teaching assessments,and retrospective discussions,especially suitable for comprehensive management training of fatal diseases.Many countries internationally have incorporated simulation exercises for MH into their routine teaching and training systems.The effectiveness of teaching and training for anesthesiologists in MH and their ability to handle anesthesia crisis events have been continuously improved through a periodic training model.This article systematically reviews the research progress and practical experience of scenario simulation exercises in emergency training for MH,with a focus on exploring how to establish a scenario simulation exercise plan for emergency application and comprehensive symptomatic support treatment of Dantrolene Sodium based on the actual situation in China,providing reference for improving the teaching and training quality of MH and other clinical crisis events.
8.Gastric filling ultrasound for diagnosing dysphagiaafter surgical operation of hiatal hernia
Huizhen YU ; Shuang WU ; Shihong LI ; Xueyao TANG ; Xishu CHEN ; Hong ZHOU ; Yang ZHOU
Chinese Journal of Medical Imaging Technology 2024;40(10):1538-1541
Objective To observe the value of gastric filling ultrasound(GFUS)for diagnosing dysphagia after surgical operation of hiatal hernia(HH).Methods Totally 71 HH patients who underwent laparoscopic HH repair and fundoplication surgery were retrospectively enrolled and divided into dysphagia group(n=23)and non dysphagia group(n=48)according to postoperative Saeed scores.GFUS parameters,including inner diameter of esophageal hiatus lumen(IDE),wall thickness of abdominal esophageal(WTE)and inner diameter of the esophageal lumen at the fold(FIDE)were compared between groups,and their value of diagnosing postoperative dysphagia were analyzed.Results In dysphagia group,IDE and FIDE were lower,while WTE was higher than those in non dysphagia group(all P<0.05).Low IDE and high WTE were both independent risk factors of postoperative dysphagia in HH patients.The sensitivity,specificity and area under the curve(AUC)of IDE for diagnosing dysphagia after surgical operation of HH was 82.64%,66.69%and 0.773,of WTE was 82.59%,68.73%and 0.793,of their combination was 88.89%,77.59%and 0.843,respectively.The AUC of the combination of IDE and WTE was higher than that of IDE and WTE alone(Z=1.328,1.364,P=0.044,0.043).Conclusion Combination of GFUS parameters IDE and WTE was valuable for diagnosing dysphagia after surgical operation of HH.
9.Bidirectional relationship between type 2 diabetes mellitus and coronary artery disease: Prospective cohort study and genetic analyses
Wenqiang ZHANG ; Li ZHANG ; Chenghan XIAO ; Xueyao WU ; Huijie CUI ; Chao YANG ; Peijing YAN ; Mingshuang TANG ; Yutong WANG ; Lin CHEN ; Yunjie LIU ; Yanqiu ZOU ; Ling ZHANG ; Chunxia YANG ; Yuqin YAO ; Jiayuan LI ; Zhenmi LIU ; Xia JIANG ; Ben ZHANG
Chinese Medical Journal 2024;137(5):577-587
Background::While type 2 diabetes mellitus (T2DM) is considered a putative causal risk factor for coronary artery disease (CAD), the intrinsic link underlying T2DM and CAD is not fully understood. We aimed to highlight the importance of integrated care targeting both diseases by investigating the phenotypic and genetic relationships between T2DM and CAD.Methods::We evaluated phenotypic associations using data from the United Kingdom Biobank ( N = 472,050). We investigated genetic relationships by leveraging genomic data conducted in European ancestry for T2DM, with and without adjustment for body mass index (BMI) (T2DM: Ncase/ Ncontrol = 74,124/824,006; T2DM adjusted for BMI [T2DM adjBMI]: Ncase/ Ncontrol = 50,409/523,897) and for CAD ( Ncase/ Ncontrol = 181,522/984,168). We performed additional analyses using genomic data conducted in multiancestry individuals for T2DM ( Ncase/ Ncontrol = 180,834/1,159,055). Results::Observational analysis suggested a bidirectional relationship between T2DM and CAD (T2DM→CAD: hazard ratio [HR] = 2.12, 95% confidence interval [CI]: 2.01–2.24; CAD→T2DM: HR = 1.72, 95% CI: 1.63–1.81). A positive overall genetic correlation between T2DM and CAD was observed ( rg = 0.39, P = 1.43 × 10 -75), which was largely independent of BMI (T2DM adjBMI–CAD: rg = 0.31, P = 1.20 × 10 –36). This was corroborated by six local signals, among which 9p21.3 showed the strongest genetic correlation. Cross-trait meta-analysis replicated 101 previously reported loci and discovered six novel pleiotropic loci. Mendelian randomization analysis supported a bidirectional causal relationship (T2DM→CAD: odds ratio [OR] = 1.13, 95% CI: 1.11-1.16; CAD→T2DM: OR = 1.12, 95% CI: 1.07-1.18), which was confirmed in multiancestry individuals (T2DM→CAD: OR = 1.13, 95% CI: 1.10-1.16; CAD→T2DM: OR = 1.08, 95% CI: 1.04-1.13). This bidirectional relationship was significantly mediated by systolic blood pressure and intake of 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors, with mediation proportions of 54.1% (95% CI: 24.9-83.4%) and 90.4% (95% CI: 29.3-151.5%), respectively. Conclusion::Our observational and genetic analyses demonstrated an intrinsic bidirectional relationship between T2DM and CAD and clarified the biological mechanisms underlying this relationship.
10.Recognition of unilateral auditory neuropathy in children
Ying LI ; Zhihan LIN ; Xueyao WANG ; Yang YANG ; Xiao ZHANG ; Yi ZHOU ; Xin JIN ; Zhipeng ZHENG ; Jifeng SHI ; Xuetong WANG ; Jie BAI ; Lining GUO ; Haihong LIU
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2024;59(5):447-454
Objective:This study aimed to compare the audiological characteristics between children with unilateral auditory neuropathy (UAN) and single-sided deafness (SSD) to establish a valid basis for the differential diagnosis of children with UAN.Methods:A retrospective analysis was conducted on audiological and imaging evaluations of children with UAN and SSD who were treated at Beijing Children′s Hospital of Capital Medical University between May 2015 and June 2023. There were 17 children with UAN, comprising 10 males and 7 females, with an average age of 4.7 years. Additionally, there were 43 children with SSD, consisting of 27 males and 16 females, with an average age of 6.5 years. Audiological assessments included Auditory brainstem response (ABR), Steady-state auditory evoked potential (ASSR), Behavioural audiometry, Cochlear microphonic potential (CM), Distortino-product otoacoustic emission (DPOAE), and acoustic immittance test. The results of the audiological assessment and imaging phenotypic between the two groups of children were compared and analyzed by applying SPSS 27.0 statistical software.Results:(1) The UAN group (77.8%) had a significantly higher rate of ABR wave III L than the SSD group (20.9%) ( P<0.01). The PA thresholds at 500 Hz and 1 000 Hz of children with SSD were higher than those of children with UAN, while the ASSR thresholds at 500 Hz, 1000 Hz, 2 000 Hz, and 4 000 Hz of children with SSD were significantly higher than those of children with UAN ( P<0.05). (2) The degree of hearing loss in both UAN and SSD children was predominantly complete hearing loss. The percentage of complete hearing loss was significantly higher (χ2=4.353, P=0.037) in the SSD group (93.0%, 40/43) than in the UAN group (63.6%, 7/11). However, the percentage of profound hearing loss was significantly higher in the UAN group (27.3%, 3/11) than in the SSD group (2.3%, 1/43) ( Fisher′s exact test, P=0.023). In terms of hearing curve configuration, the percentage of flat type was significantly higher in the SSD group (76.7%, 33/43) than in the UAN group (36.4%, 4/11). The proportion of the UAN group (27.3%, 3/11) was significantly higher than that in the SSD group (2.3%, 1/43) in ascending type ( P<0.05). There were no statistically significant differences in the hearing curves of the declining type and other types between the two groups ( P>0.05). (3) The proportion of imaging assessment without abnormality was significantly more common in the UAN group (81.8%) than in the SSD group (37.1%) (χ2=6.695, P=0.015). Conclusions:Compared to children with SSD, the occurrence of wave III L on the ABR test was significantly more common in children with UAN. The percentage of ascending hearing curves was significantly higher in children with UAN than in children with SSD. ASSR thresholds were significantly lower in children with UAN. The normal imaging phenotype was significantly more common in children with UAN than in children with SSD.

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