1.The impact and clinical implication of variants in the start codon of HBA gene on the phenotype of thalassemia
Bairu LAI ; Yiyuan GE ; Xiaomin MA ; Guangkuan ZENG ; Xiaohua YU ; Jianlian LIANG ; Yanbin CAO ; Liye YANG
Chinese Journal of Medical Genetics 2025;42(1):51-55
Objective:To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia.Methods:A retrospective study was conducted on 7 patients diagnosed by Yangjiang People′s Hospital and Guangzhou Hybribio Co. Ltd., from June 2019 to October 2022. Routine blood tests and hemoglobin electrophoresis were carried out. Potential variants were identified through polymerase chain reaction (PCR) combined with Reverse dot blotting (RDB), Gap-PCR, and Sanger sequencing. This study has been approved by the Medical Ethics Committee of People′s Hospital of Yangjiang (Ethics No: 20240001).Results:For the 7 patients, results of blood routine test of one case was unknown, and that of another was normal. The remaining 5 cases had presented with microcytic hypochromic anemia. The results of hemoglobin electrophoresis showed that one case had normal Hb A and slightly lower Hb A 2, whilst another had significantly decreased Hb A and Hb A 2, in addition with the appearance of a Hb H band. The content of Hb Bart′s in four neonates was ≥0.4%. The remaining one case had no result. Genetic testing has identified 4 rare start codon mutations, namely HBA2: c. 2delT, HBA2: c. 1A>G, HBA2: c. 1A>T, and HBA1: c. 2T>C. Among these, Patient 1 had harbored compound heterozygous variants of HBA2: c. 427T>C (Hb CS) and HBA2: c. 2delT. Patient 4 had harbored compound heterozygous variants of HBA2: c. 1A>G and Southeast Asian type deletion. Conclusion:Heterozygotes with HBA start codon variants usually present as silent or mild thalassemia, and the symptoms of anemia may deteriorate when combined with other α-thalassemia variant. The HBA2: c. 1A>T start codon variant was unreported previously in China. The detection of start codon variants has helped to clarify the causes of anemia, genetic counseling, and guidance for reproduction.
2.Stakeholder Preference Assessment in Implementation Research:Application of Best-worst Scaling
Run MAO ; Yiyuan CAI ; Wei YANG ; Zhiguo LIU ; Lang LINGHU ; Jiajia CHEN ; Mengjiao LIANG ; Lieyu HUANG ; Siyuan LIU ; Dong XU
Medical Journal of Peking Union Medical College Hospital 2025;16(1):224-234
In the field of healthcare service,it is crucial to optimize medical innovation services by combining the preferences of health service providers and demanders(i.e.,stakeholders).The best-worst scaling(BWS)method is a recently developed stated preference method for assessing preferences with distinctive advantages.Nevertheless,there is a lack of a comprehensive introduction to stakeholder preference assessment using BWS,thus constraining its applications and promotion.This paper introduces the process of using BWS to assess service providers'preferences for the Shared Medical Appointment for diabetes(SMART),an integrated healthcare service of medicine and health management,in the hope of providing reference for researchers for promoting the use of BWS in implementation research.
3.The impact and clinical implication of variants in the start codon of HBA gene on the phenotype of thalassemia.
Bairu LAI ; Yiyuan GE ; Xiaomin MA ; Guangkuan ZENG ; Xiaohua YU ; Jianlian LIANG ; Yanbin CAO ; Liye YANG
Chinese Journal of Medical Genetics 2025;42(1):51-55
OBJECTIVE:
To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia.
METHODS:
A retrospective study was conducted on 7 patients diagnosed by Yangjiang People's Hospital and Guangzhou Hybribio Co. Ltd., from June 2019 to October 2022. Routine blood tests and hemoglobin electrophoresis were carried out. Potential variants were identified through polymerase chain reaction (PCR) combined with Reverse dot blotting (RDB), Gap-PCR, and Sanger sequencing. This study has been approved by the Medical Ethics Committee of People's Hospital of Yangjiang (Ethics No: 20240001).
RESULTS:
For the 7 patients, results of blood routine test of one case was unknown, and that of another was normal. The remaining 5 cases had presented with microcytic hypochromic anemia. The results of hemoglobin electrophoresis showed that one case had normal Hb A and slightly lower Hb A2, whilst another had significantly decreased Hb A and Hb A2, in addition with the appearance of a Hb H band. The content of Hb Bart's in four neonates was ≥ 0.4%. The remaining one case had no result. Genetic testing has identified 4 rare start codon mutations, namely HBA2: c.2delT, HBA2: c.1A>G, HBA2: c.1A>T, and HBA1: c.2T>C. Among these, Patient 1 had harbored compound heterozygous variants of HBA2: c.427T>C (Hb CS) and HBA2: c.2delT. Patient 4 had harbored compound heterozygous variants of HBA2: c.1A>G and Southeast Asian type deletion.
CONCLUSION
Heterozygotes with HBA start codon variants usually present as silent or mild thalassemia, and the symptoms of anemia may deteriorate when combined with other α-thalassemia variant. The HBA2: c.1A>T start codon variant was unreported previously in China. The detection of start codon variants has helped to clarify the causes of anemia, genetic counseling, and guidance for reproduction.
Humans
;
Phenotype
;
Codon, Initiator/genetics*
;
Female
;
Male
;
Retrospective Studies
;
alpha-Globins/genetics*
;
alpha-Thalassemia/genetics*
;
Hemoglobin A/genetics*
;
Adult
;
Mutation
4.Mediating role of psychological capital between perception of decent work and work engagement among Operating Room nurses
Xinsuo MA ; Yiyuan ZHAO ; Li LIU ; Hong YANG ; Yening ZHANG ; Guizhi LIU ; Dan YU ; Shuyuan PU
Chinese Journal of Modern Nursing 2025;31(23):3161-3167
Objective:To investigate the mediating role of psychological capital between the perception of decent work and work engagement among Operating Room nurses, and to provide insights for improving their work engagement.Methods:From December 2023 to February 2024, a total of 307 Operating Room nurses from four class ⅢGrade A hospitals in Beijing, Chongqing, Dalian, and Zhuhai were recruited using convenience sampling. Data were collected using a general information questionnaire, Work Engagement Scale, Decent Work Scale, and Nurses' Psychological Capital Scale. Pearson correlation analysis was conducted to examine the relationships among psychological capital, perception of decent work, and work engagement. Structural equation modeling and mediation analysis were performed using AMOS 24.0 software.Results:A total of 307 questionnaires were distributed, and 301 valid responses were collected, with an effective response rate of 98.05%. The mean scores for work engagement, perception of decent work, and psychological capital were (41.01±10.76), (67.30±17.86), and (93.30±15.15), respectively. Work engagement was positively correlated with both the perception of decent work and psychological capital (all P<0.01), and the perception of decent work was positively correlated with psychological capital ( P<0.01). Psychological capital partially mediated the relationship between the perception of decent work and work engagement, with the mediating effect accounting for 62.63%. Conclusions:Psychological capital plays a partial mediating role between the perception of decent work and work engagement among Operating Room nurses. Nursing managers can enhance nurses' work engagement by improving their perception of decent work and strengthening their psychological capital.
5.Evaluating the impact of Carbon Emission Trading Policy on pan-cancer incidence among middle-aged and elderly populations: a quasi-natural experiment.
Chuang YANG ; Yiyuan SUN ; Yihan LI ; Lijun QIAN
Environmental Health and Preventive Medicine 2025;30():43-43
BACKGROUND:
Cancer is a major public health concern, particularly among middle-aged and elderly populations, who are disproportionately affected by rising cancer incidence. Environmental pollution has been identified as a significant risk factor for cancer development. China's Carbon Emission Trading Policy (CETP), implemented in pilot regions since 2013, aims to reduce carbon emissions and improve air quality. This study evaluates the impact of CETP on pan-cancer incidence, with a focus on its effects on specific cancer types and vulnerable populations.
METHODS:
This quasi-natural experiment utilized data from the China Health and Retirement Longitudinal Study (CHARLS) and environmental data from the China National Environmental Monitoring Center (2011-2018). A staggered difference-in-differences (DID) model was employed to estimate the impact of CETP on cancer incidence. Robustness tests, including parallel trend tests, placebo analysis, and entropy balancing, validated the findings. Subgroup analyses were performed to assess the policy's heterogeneous effects based on gender, Body Mass Index (BMI), and smoking status.
RESULTS:
CETP implementation significantly reduced the incidence of six cancer types: endometrial, cervical, gastric, esophageal, breast, and lung cancers. Overall, pan-cancer incidence significantly declined post-policy implementation (CETP × POST: -47.200, 95% CI: [-61.103, -33.296], p < 0.001). The policy demonstrated stronger effects in highly polluted areas and among individuals with poorer mental health. Subgroup analysis revealed that females, individuals with lower BMI, and non-smokers experienced more substantial benefits.
CONCLUSIONS
CETP significantly reduces cancer incidence by improving environmental quality and influencing mental health, with particularly strong effects observed among high-risk populations. This study highlights the important role of environmental economic policies in mitigating cancer burden and promoting public health. Future research should further explore the long-term impacts of this policy and its applicability across different national and regional contexts.
Humans
;
Incidence
;
Neoplasms/epidemiology*
;
China/epidemiology*
;
Middle Aged
;
Female
;
Male
;
Aged
;
Air Pollution/legislation & jurisprudence*
;
Carbon/analysis*
;
Longitudinal Studies
;
Air Pollutants/analysis*
;
Environmental Exposure
6.Ventral Hippocampal CA1 GADD45B Regulates Susceptibility to Social Stress by Influencing NMDA Receptor-Mediated Synaptic Plasticity.
Mengbing HUANG ; Jian BAO ; Xiaoqing TAO ; Yifan NIU ; Kaiwei LI ; Ji WANG ; Xiaokang GONG ; Rong YANG ; Yuran GUI ; Hongyan ZHOU ; Yiyuan XIA ; Youhua YANG ; Binlian SUN ; Wei LIU ; Xiji SHU
Neuroscience Bulletin 2025;41(3):406-420
Growth arrest DNA damage-inducible protein 45 β (GADD45B) has been reported to be a regulatory factor for active DNA demethylation and is implicated in the modulation of synaptic plasticity and chronic stress-related psychopathological processes. However, its precise role and mechanism of action in stress susceptibility remain elusive. In this study, we found a significant reduction in GADD45B expression specifically in the ventral, but not the dorsal hippocampal CA1 (dCA1) of stress-susceptible mice. Furthermore, we demonstrated that GADD45B negatively regulates susceptibility to social stress and NMDA receptor-dependent long-term potentiation (LTP) in the ventral hippocampal CA1 (vCA1). Importantly, through pharmacological inhibition using the NMDA receptor antagonist MK801, we provided further evidence supporting the hypothesis that GADD45B potentially modulates susceptibility to social stress by influencing NMDA receptor-mediated LTP. Collectively, these results suggested that modulation of NMDA receptor-mediated synaptic plasticity is a pivotal mechanism underlying the regulation of susceptibility to social stress by GADD45B.
Animals
;
Receptors, N-Methyl-D-Aspartate/antagonists & inhibitors*
;
CA1 Region, Hippocampal/drug effects*
;
Male
;
Stress, Psychological/physiopathology*
;
Mice
;
Neuronal Plasticity/drug effects*
;
Long-Term Potentiation/drug effects*
;
Mice, Inbred C57BL
;
Antigens, Differentiation/metabolism*
;
Dizocilpine Maleate/pharmacology*
;
Excitatory Amino Acid Antagonists/pharmacology*
;
GADD45 Proteins
7.Interleukin-33 Knockout Promotes High Mobility Group Box 1 Release from Astrocytes by Acetylation Mediated by P300/CBP-Associated Factor in Experimental Autoimmune Encephalomyelitis.
Yifan XIAO ; Liyan HAO ; Xinyi CAO ; Yibo ZHANG ; Qingqing XU ; Luyao QIN ; Yixuan ZHANG ; Yangxingzi WU ; Hongyan ZHOU ; Mengjuan WU ; Mingshan PI ; Qi XIONG ; Youhua YANG ; Yuran GUI ; Wei LIU ; Fang ZHENG ; Xiji SHU ; Yiyuan XIA
Neuroscience Bulletin 2025;41(7):1181-1197
High mobility group box 1 (HMGB1), when released extracellularly, plays a pivotal role in the development of spinal cord synapses and exacerbates autoimmune diseases within the central nervous system. In experimental autoimmune encephalomyelitis (EAE), a condition that models multiple sclerosis, the levels of extracellular HMGB1 and interleukin-33 (IL-33) have been found to be inversely correlated. However, the mechanism by which IL-33 deficiency enhances HMGB1 release during EAE remains elusive. Our study elucidates a potential signaling pathway whereby the absence of IL-33 leads to increased binding of P300/CBP-associated factor with HMGB1 in the nuclei of astrocytes, upregulating HMGB1 acetylation and promoting its release from astrocyte nuclei in the spinal cord of EAE mice. Conversely, the addition of IL-33 counteracts the TNF-α-induced increase in HMGB1 and acetylated HMGB1 levels in primary astrocytes. These findings underscore the potential of IL-33-associated signaling pathways as a therapeutic target for EAE treatment.
Animals
;
Encephalomyelitis, Autoimmune, Experimental/metabolism*
;
Astrocytes/metabolism*
;
Interleukin-33/metabolism*
;
HMGB1 Protein/metabolism*
;
Acetylation
;
Mice, Knockout
;
Mice, Inbred C57BL
;
p300-CBP Transcription Factors/metabolism*
;
Mice
;
Spinal Cord/metabolism*
;
Cells, Cultured
;
Female
;
Signal Transduction
8.LIU Fengbin's Experience in Treating Autoimmune Liver Disease with the Method of Nourishing Yin and Removing Stasis Based on Stage
Xiling YANG ; Qiuhong YONG ; Chaoyuan HUANG ; Lina ZHAO ; Yiyuan ZHENG ; Chong PENG ; Kunhai ZHUANG ;
Journal of Traditional Chinese Medicine 2025;66(7):674-679
This paper summarizes Professor LIU Fengbin's clinical experience in treating autoimmune liver disease (AILD) using the method of nourishing yin and removing stasis based on stage differentiation. He believes that the pathogenesis of AILD generally involves both deficiency in essence and excess in manifestation, with essence deficiency often presenting as liver and kidney yin deficiency, which may progress to spleen deficiency and yang deficiency over time. The excess manifestation commonly includes qi stagnation, blood stasis, damp-heat, and phlegm toxicity. Clinically, he advocates for the treatment principle of nourishing yin and removing stasis. On the foundation of nourishing liver and kidney yin, different pathological factors causing stasis are eliminated according to their nature. Treatment is also tailored to different stages of AILD. In the early and asymptomatic stages, liver qi stagnation and spleen deficiency are prominent, warranting a therapeutic approach of soothing the liver, regulating qi and strengthening the spleen. The modified Chaishao Qizhi Decoction (柴芍气滞汤) is used. During the symptomatic stage, pathogenic factors become more pronounced, often accompanied by a significant deficiency of vital qi, with damp-heat, water retention, and phlegm toxicity as key pathological features. The treatment should focus on strengthening the spleen and dispelling dampness, using modified Sijunzi Decoction (四君子汤) combined with Yinchen Wuling Powder (茵陈五苓散). In the liver function decompensation stage, vital qi is severely deficient while pathogenic factors persist, with damp-heat, phlegm toxicity, and blood stasis obstructing the liver collaterals. Treatment should focus on nourishing blood, softening the liver, strengthening the spleen, and resolving stasis, using the modified Ruangan Yangxue Decoction (软肝养血汤). Throughout the treatment process, emphasis is placed on tonifying the liver and kidneys while protecting yin fluids.
9.Liu Fengbin's Experience in Intervening Hepatitis B-Related Liver Fibrosis with Traditional Chinese Medicine
Qiuhong YONG ; Chaoyuan HUANG ; Lina ZHAO ; Xiling YANG ; Yiyuan ZHENG ; Fengbin LIU
Journal of Guangzhou University of Traditional Chinese Medicine 2025;42(7):1786-1791
Professor Liu Fengbin,a renowned traditional Chinese medicine(TCM)expert in Guangdong Province,specializes in treating digestive system disorders of hepatobiliary and splenic diseases with Chinese herbal medicine,and has accumulated extensive experience in intervening viral hepatitis type B and hepatitis B-related liver fibrosis.Professor Liu proposes that dampness,heat,stasis,toxin,and deficiency are the primary pathogenic factors of hepatitis B-related liver fibrosis.The disease is rooted in the liver,and is also closely related to the spleen and kidney and involves the gallbladder,stomach,and triple energizer.Based on TCM dialectical thinking and years of clinical practice,Professor Liu summarized the"eight methods for treating liver diseases"for intervening hepatitis B-related liver fibrosis with Chinese medicine,i.e.,method of activating the spleen and stomach,method of clearing heat and dispelling dampness,method of dispelling dampness and resolving turbidity,method of enriching yin and subduing fire,method of warming yang and tonifying the kidney,method of softening the liver and nourishing blood,method of activating blood circulation and softening hardness,and method of calming the mind and improving sleep.In clinical practice,these methods are flexibly combined based on patients'syndrome types and manifestations.Moreover,Professor Liu is skilled in using herbal groups having Lingnan medicinal characteristics,such as herbal group for clearing heat and removing toxin,and draining dampness to relieve jaundice which is composed of Mallotus Apelta Radix et Rhizoma,Abri Herba and Phyllanthi Urinariae Herba,herbal group for promoting digestion to remove food retention which is composed of Fermentum Rubrum,Crataegi Fructus and Hordei Fructus Germinatus,herbal group for removing blood and eliminating mass group which is composed of vinegar-processed Curcumae Rhizoma,vinegar-processed Trionycis Carapax and Eupolyphaga Steleophaga,and herbal group for protecting liver and lowering enzyme which is composed of Hoveniae Semen and Schisandrae Chinensis Fructus.Professor Liu's medication experience for intervening hepatitis B-related liver fibrosis will provide valuable references for TCM clinical practice in the management of liver diseases.
10.Organizational Readiness for Change and Factors Influencing the Implementation of Shared Medical Appointment for Diabetes in Primary Healthcare Institutions
Wei YANG ; Yiyuan CAI ; Jiajia CHEN ; Run MAO ; Lang LINGHU ; Sensen LYU ; Dong XU
Medical Journal of Peking Union Medical College Hospital 2025;16(2):479-491
The success of implementation research is closely tied to the institution's pre-implementation readiness. This study aims to explore the organizational readiness for change (ORC) and its influencing factors on primary healthcare settings in the implementation of the "Shared Medical Appointment for Diabetes (SMART) in China: design of an optimization trial" and to enhance ORC and provide insights to support the effective implementation of the program. Qualitative interviews and quantitative surveys were conducted to evaluate the ORC level and its influencing factors in 12 institutions implementing the SMART program. The Scale for Assessing the Institution's Readiness to Implement Evidence-Based Practices was utilized to measure ORC levels. Qualitative interviews were conducted among change implementers to gather information regarding the status of influencing factors. Thematic analysis was applied to extract factors from the interview data, and an assessment questionnaire was developed to measure the perceived impact of these factors. A fuzzy-set qualitative comparative analysis (fsQCA) method was employed to identify the influencing factors of ORC and pathways leading to high-level ORC. Seventy implementers from 12 institutions, encompassing administrators, clinicians, and health managers, participated in the interviews and surveys. The median and interquartile of the ORC scores were 105.20 (101.23, 107.33). The fsQCA indicated that a clear understanding of specific tasks and responsibilities, the active engagement of key participants, sufficient preliminary preparation, and the use of audits and feedback mechanisms were critical pathways to a high-level ORC. Conversely, institutions lacking key participants, preliminary preparation, or marginal influence demonstrated a low-level ORC. Before implementing innovation, Coherence and Cognitive Participation were identified as critical factors in influencing ORC. Strong leadership from key participants played pivotal role in enhancing readiness for change and was essential for improving implementation fidelity and overall program success.

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