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.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.
3.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.
4.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.
5.Molecular characteristics and drug resistance phenotype of Salmonella enteritidis in patients with diarrhea in Xiangyang
Jing SHI ; Yating ZHANG ; Shengming ZHU ; Ziyu YANG ; Gang YANG
Journal of Public Health and Preventive Medicine 2024;35(6):85-88
Objective To study the serotype, drug resistance, and molecular typing characteristics of Salmonella enteritidis strains isolated from patients with diarrhea in Xiangyang City. Methods Serotyping, drug sensitivity test, pulsed field gel electrophoresis (PFGE) typing, and whole genome sequencing were carried out on Salmonella enteritidis strains isolated from diarrhea patients from 2019 to 2020. Results From the drug susceptibility test , Salmonella enteritidis in this region showed varying degrees of drug resistance, with 94.7% of Salmonella enteritidis strains being multidrug-resistant. The PFGE electrophoretogram of Salmonella enteritidis showed that 19 strains could be divided into 6 PFGE types by cluster analysis, among which 12 strains belonged to the epidemic dominant type. MLST typing showed that all 15 strains were ST11 type, carrying multiple drug resistance genes (mdsA, mdsB, mdsC, gols, and sdiA) and mdtK gene, and all carried various invasiveness-related virulence genes. However, there were slight differences in virulence genes related to the secretion system of the pathogenic island among the different strains. The phylogenetic tree analysis of the system evolution showed that 15 strains could be divided into 2 different evolutionary branches. Conclusion The situation of multidrug resistance in Salmonella enteritidis in Xiangyang is serious, with dominant PFGE types and ST types, and it carries multiple drug resistance genes and various invasiveness-related virulence genes.
6.Advances in the study of mesenchymal stem cells in obstructive sleep apnea hypoventilation syndrome
Jinhui XU ; Hongmei YUE ; Yating LI ; Miaomiao LIU ; Xingdong WU ; Haobin ZHU
Chinese Journal of Clinical Pharmacology and Therapeutics 2024;29(1):114-120
Mesenchymal stem cells(MSCs)are self-regenerating,rapidly proliferating pluripotent stem cells that depend primarily on their derived pro-angiogenic,inflammatory regulatory,and tro-phic factors to exert beneficial effects that attenu-ate deleterious inflammatory responses,reduce vascular damage,and promote tissue repair and re-generation.Obstructive sleep apnea hypoventila-tion syndrome(OSAHS)is a chronic disorder marked by oropharyngeal collapse during sleep,re-sulting in transient reduced airflow,large fluctua-tions in intrathoracic pressure,and intermittent hy-poxia and hypercapnia.OSAHS subsequently cyto-kine-mediated inflammatory cascades,oxidative stress,and ischemia,recruit MSCs from inflamed and damaged tissues through MSCs-derived of anti-inflammatory and pro-angiogenic factor activity,re-duce hypoxia,suppress inflammation,promote re-generation,and prevent fibrosis in OSAHS-injured tissues.In this paper,we will describe the patho-genesis of inflammation,oxidative stress,fibrosis and ischemia from the perspective of OSAHS,high-lighting the current research progress on MSCs-de-pendent regulation of OSAHS-related pathology.
7. Research progress of pharmacologic therapy in obstructive sleep apnea
Xingdong WU ; Hongmei YUE ; Haobin ZHU ; Miaomiao LIU ; Yating LI ; Jinhui XU ; Hongmei YUE
Chinese Journal of Clinical Pharmacology and Therapeutics 2024;29(2):215-229
Obstructive sleep apnea (OSA) is a common sleep disordered breathing disorder. As a major global public health problem, untreated OSA can lead to a variety of adverse health outcomes, including various cardiovascular and cerebrovascular diseases, metabolic disorders, and psychiatric disorders such as anxiety and depression. Traditional OSA therapies such as positive airway pressure (PAP), weight loss, oral appliance, upper airway surgery, and postural therapy focus on the anatomical factors of OSA. However, the pathogenesis of OSA is heterogeneous, and non-anatomical factors also play an important role in most patients. Although there is no drug with exact efficacy for the treatment of OSA, with the deepening understanding of the pathophysiological mechanism of OSA, more and more clinical studies are devoted to the study of drug treatment of OSA and its complications, and a series of results have been achieved. The following is a review of the relevant studies on drug treatment of OSA in recent years, hoping to provide literature support and theoretical basis for future research on drug treatment of OSA.
8.Qualitative Research on Influencing Factors of Hospital Administrators' Job Meaning
Huilan ZHU ; Shuaihe ZHU ; Chunyang LU ; Bin ZHENG ; Yuxuan ZHU ; Yating CHENG ; Tingshan DUAN ; Tao SUN
Chinese Hospital Management 2024;44(6):51-55
Objective It conducted a grounded theory on the factors influencing the sense of job significance of hospital administrators to provide suggestions and references for the promotion of high-quality development of hospital management work.Methods From April to September 2023,it interviewed 23 administrators from various departments across Provinces/Cities,including Zhejiang,Heilongjiang,Guangdong,Shanghai,Henan,Jilin,Sichuan and others,using a theoretical sampling method.Employing Grounded Theory,it encoded over transcriptional information at three levels.Results Three-level coding process yielded 66 free nodes,19 initial concepts,7 main categories,and 3 dimensions,leading to the development of a theoretical model encompassing existence,relatedness,and growth.Conclusion The job meaning for hospital administrators is shaped by existence,relatedness,and growth.It recommend revising performance assessments,fostering an empowering culture,enhancing informal communication,providing professional growth pathways,and offering diverse career development options to deepen administrators'job meaning.
9.A Model of Factors Influencing the Career Plateau of Hospital Administrators based on A Grounded Theo-ry Study
Shuaihe ZHU ; Huilan ZHU ; Dan MAO ; Yating CHENG ; Yuxuan ZHU ; Tingshan DUAN ; Tao SUN
Chinese Hospital Management 2024;44(7):75-79
Objective To explore the influencing factors of the career plateau among hospital administrators,to provide scientific reference for enhancing the quality of hospital management and operation.Methods The interview data were analyzed by grounded theoretical research methods.It conducted semi-structured interviews with 22 tar-get objects and conducted qualitative research on the influencing factors of hospital administrators'career plateau with the help of NVivo 11.0 software.Results After a three-level coding,114 initial concepts,30 subcategories,10 main categories,and 3 core categories were summarized.A theoretical model was developed,encompassing three dimensions:aggravating factors,dissipating factors,and convertible factors.Conclusion The career plateau of hospi-tal administrators is affected by a complex interplay of aggravating,dissipating and convertible factors.Hospitals need to provide regular vocational training to cultivate organizational loyalty for their employees.Hospital administra-tors should engage in proactive career planning and skill diversification.and the government should coordinate the es-tablishment of links between hospitals and the external system to promote the openness and connection of the healthcare system to the outside world.
10.Study on the Mechanisms of Successful Aging at Work of Senior Clinicians in Public Hospitals Based on Grounded Theory
Yating CONG ; Min WANG ; Jingjia ZHU ; Yueming LI ; Hongbing TAO
Chinese Hospital Management 2024;44(11):65-69
Objective An exploratory study of the mechanisms for achieving successful aging at work of clinicians in public hospitals by applying grounded theory and proposing appropriate management recommendations.Methods 24 medical staff from 5 public hospitals in Hubei and Shandong Provinces were interviewed in semi-structured interviews by using purposive sampling methods from June to August in 2023.The interview records were coded,analyzed and integrated with grounded theory.Results Through open coding,spindle coding and selective coding,204 original concepts,47 categories,16 main categories and 5 core category related to model of the mechanism for achieving successful aging at work of clinicians.Conclusion Successful aging at work of senior clinicians encompasses five main areas:physical and mental health,work adaptation,relationships and legacy,internal and external compensation,and value realization.Organizational support factors,individual job crafting affect successful aging at work of senior clinicians by meeting the psychological needs,achieving effective resource management,and promoting person-job matching;individual characteristic factors play a moderating role;job crafting mediates the effect of organizational support factors on successful aging at work among clinicians.


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