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.Improving effectiveness of family doctor contract services based on healthcare failure mode and effect analysis
Xiaomin CHEN ; Yanchang LIANG ; Maokun CHEN ; Xiaolan LIU ; Wenjing HUANG
Chinese Journal of General Practitioners 2025;24(4):486-490
Team management is the key link for improving team work efficiency to achieve team work goals. Currently, there is limited research on the internal management, operation methods and workflow of family doctor teams. Our research group has developed a plan to improve the management process of family doctor contract services based on the Healthcare Failure Mode and Effects Analysis (HFMEA), and preliminarily demonstrated that its implementation improved the effectiveness of family doctor contract services for management of chronic diseases represented by hypertentsion and diabetes. Our experiences have shown that grassroots medical institutions can apply management tools to optimize team service processes and improve team collaboration efficiency under existing human resource constraints, which may provide reference for peers to improve family doctor contract services.
3.Application of the healthcare failure mode and effect analysis model to prevent falls in elderly patients during pulmonary function testing in primary healthcare institutions
Xiaomin CHEN ; Haibing WENG ; Maokun CHEN ; Xiaolan LIU ; Yanchang LIANG
Chinese Journal of General Practitioners 2025;24(11):1434-1438
With the inclusion of health services for patients with chronic obstructive pulmonary disease (COPD) in national basic public health programs, the number of elderly individuals undergoing pulmonary function testing (PFT) in primary healthcare institutions is expected to increase significantly. Adverse reactions during PFT, such as dyspnea and dizziness, increase the risk of falls among the elderly during testing. Based on the Healthcare Failure Mode and Effect Analysis (HFMEA) model, our research team developed an improved protocol for PFT procedures for elderly patients in primary healthcare institutions and conducted a preliminary evaluation of its effectiveness. The results demonstrate that advanced medical risk management tools can optimize PFT procedures in primary healthcare settings, offering valuable insights for enhancing PFT services for the elderly.
4.Efficacy and safety of ferric derisomaltose injection versus iron sucrose injection in the treatment of iron deficiency anemia in patients with inflammatory bowel disease
Changqin LIU ; Xiaomin SUN ; Cui ZHANG ; Liang CHEN ; Zhanju LIU
Chinese Journal of Digestion 2025;45(4):241-246
Objective:To compare and analyze the clinical efficacy and safety of ferric derisomaltose injection (FDI) and iron sucrose injection (ISI) in the treatment of iron deficiency anemia (IDA) in patients with inflammatory bowel disease (IBD).Methods:From January 1, 2023 to August 31, 2024, 89 IBD patients complicated with IDA hospitalized and treated at the Department of Gastroenterology, Tenth People′s Hospital of Tongji University were enrolled and divided into the FDI group (44 cases) and ISI group (45 cases). Patients in the FDI group and ISI group were treated with FDI and ISI, respectively, and the treatment course were both 8 weeks. The iron supplementation dose, number of injections, and efficacy (response rate) were compared between the 2 groups. Hemoglobin (Hb) levels were measured before treatment and at the 2nd, 4th, and 8th week after treatment. After 8 weeks of treatment, the changes in serum iron, C-reactive protein (CRP), Crohn′s disease activity index (CDAI), modified Mayo score, inflammatory bowel disease questionnaire (IBDQ) score, and serum phosphorus levels were compared with those before treatment. Chi-square test, paired t-test, independent sample t-test, Wilcoxon signed-rank test, and Mann-Whitney U test were used for statistical analysis. Results:The difference between required and actual iron supplementation and number of injections of the FDI group were both less than those of the ISI group ((466±264) mg vs. (571±302) mg, 1.0 (1.0, 1.0) vs. 3.0 (2.0, 5.5)), and the differences were statistically significant ( t=3.69, U=104.50; both P<0.001). After 8 weeks of treatment, the efficacy and increase in serum iron of the FDI group were both higher than those of the ISI group (81.8% (36/44) vs. 60.0% (27/45), 7.35 (4.53, 12.68) μmol/L vs. 3.60 (1.10, 8.20) μmol/L), and the differences were statistically significant ( χ2=5.12, U=545.40; P=0.024, <0.001). After 2, 4, and 8 weeks of treatment, the increase in Hb from before treatment of the FDI group were higher than those of the ISI group (22.5 (8.5, 29.0) g/L vs. 7.0 (2.0, 23.5) g/L; 29.5 (22.0, 49.8) g/L vs. 14.0 (6.0, 32.0) g/L; 36.5 (25.5, 60.5) g/L vs. 21.0 (7.0, 42.0) g/L), and the differences were statistically significant ( U=590.00, 518.00, and 584.00; all P<0.001). The reductions in CDAI, modified Mayo score, and CRP, as well as the improvement in IBDQ score before and after treatment were comparable between the FDI group and the ISI group (130.7±70.3 vs. 128.8±74.6, 7.3±2.3 vs. 5.8±3.2, 26.73 (2.44, 63.44) mg/L vs. 7.41 (1.86, 47.39) mg/L, 38.5±28.4 vs. 37.0±28.1), and the differences were not statistically significant (all P>0.05). In the FDI group serum phosphorus levels after 4 and 8 weeks of treatment were both higher than that before treatment (1.27(1.13, 1.45), 1.23(1.13, 1.40) mmol/L vs. 1.21 (1.03, 1.28) mmol/L), and the differences were statistically significant ( Z=539.00 and 454.00, both P<0.001). During the treatment, mild to moderate adverse reactions occurred in 13.6% (6/44) patients of the FDI group and 11.1% (5/45) patients of the ISI group, there were no serious adverse events. Conclusion:FDI can rapidly, effectively, and safely improve IDA in IBD patients without affecting blood phosphate metabolism.
5.Research progress of circular RNA and myocardial cell death in diabetic cardiomyopathy
Chunfang WANG ; Xiaomin ZHANG ; Dong LIANG
Chinese Journal of Diabetes 2025;33(3):233-236
Diabetic cardiomyopathy is a heart dysfunction disorder caused by diabetic hyperglycemia,which can induce heart failure and seriously threaten human health.Circular RNAs play an important role in the pathological regulation of many diseases such as atherosclerosis,myocardial infarction and diabetic cardiomyopathy.Myocardial cell death is an important factor in diabetic cardiomyopathy.It has been found that circRNAs are closely related to the common types of cell death in diabetic cardiomyopathy:apoptosis,pyroapoptosis,autophagy,necroptosis and ferroptosis.This paper reviews the mechanism of circular RNAs in myocardial cell death in diabetic cardiomyopathy.
6.Status of washing and disinfection management of medical textiles in China
Huiqiong XU ; Yun YANG ; Renyi ZHU ; Lijuan XIONG ; Hao HUANG ; Xiaomin CHEN ; Jiansheng LIANG
Chinese Journal of Infection Control 2025;24(3):308-315
Objective To understand the implementation of WS/T 508-2016 and the status of washing and disin-fection of medical textiles in China,and provide basis for the revision of the standard.Methods A questionnaire survey was conducted on the management of medical institutions and washing and disinfection workplace,building layout,personnel protection,equipment and supplies,washing and disinfection principles,and hygiene quality mo-nitoring of medical textiles in 323 medical institutions and 31 washing institutions in China.Meanwhile,microbio-logical index sampling was conducted on 234 pieces of medical textiles in 9 medical institutions and 8 washing insti-tutions in Hubei,Shanxi,Shanghai,and Sichuan Provinces before and after washing and disinfection.Results The awareness rates of WS/T 508-2016 among medical institutions and washing institutions were 96.90%and 96.77%,respectively,and the implementation rates were 94.12%and 96.77%,respectively.47.99%medical in-stitutions use purchasing services for washing and disinfecting medical textiles,and the higher the level of the medi-cal institution was,the higher the proportion of purchasing services was(x2=15.312,P<0.001).85.16%medi-cal institutions have conducted risk assessments on service providers,and 52.99%were responsible for or participa-ted in pre-job training by the medical institution.Washing institutions were higher than medical institutions in terms of system soundness rate,pre-job training rate,proportion of quality management leaders and full-time(part-time)quality inspectors,setting rate of hand-washing facilities in zones,passages,isolation barriers,dressing(buffer)room,and toilets,configuration rate of hygiene isolation washing equipment,tunnel washing unit,washing equip-ment with heating functions,drying equipment and mechanical ventilation facilities,and specialty machine washing rate.Among 234 medical textiles specimens,11.97%were detected fungi,and the total fungal colonies in 5 clean textiles exceeded 100 CFU/100 cm2.Conclusion WS/T 508-2016 can further standardize the washing and disin-fection of medical textiles in China through strengthening institutional management,improving the supervision level of service providers,perfecting hardware facilities and layout,introducing new technologies,and increasing the mo-nitoring on fungi in clean textiles.
7.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
8.Protective effect of Liraglutide inrats with diabetic kidney disease by regulating nuclear factor E2-related factor 2/glutathione peroxidase 4 ferroptosis signaling pathway
Dong LIANG ; Qianyu LIN ; Min YANG ; Mengjie LI ; Wenhua XING ; Ning YU ; Yunqi LIU ; Xiaomin ZHANG
Chinese Journal of Diabetes 2025;33(4):299-303
Objective To investigate the protective effect of Liraglutide in rats with diabetic kidney disease(DKD)by regulating the nuclear factor E2-related factor 2(Nrf2)/glutathione peroxidase 4(GPX4)ferroptosis signaling pathway.Methods Twelve male Sprague-Dawley(SD)rats were randomly divided into normal control(NC)group,DKD group,and Liraglutide treatment(Lir)group,with 4 rats in each group.The 24 hUAlb,TC,TG,LDL-C,serum creatinine(Scr),BUN,ferrous ion(Fe2+),the activity of glutathione peroxidase(GSH-Px),and malondialdehyde(MDA)were detected in each group.Hematoxylin and eosin(HE),periodic acid-Schiff(PAS),and periodic acid-silver methenamine-Masson(PASM-Masson)staining were used to observe the pathological changes of the kidneys.Immunofluorescence was performed to detect the localization and expression of reactive oxygen species(ROS)in the renal tissue.The protein expressions of Nrf2 and GPX4 were detected by Western blot.Results Compared with the NC group,the levels of 24 hUAlb,Scr,BUN,TC,TG,LDL-C,MDA,ROS,and Fe2+were increased(P<0.05 or P<0.01),while the expressions of GSH-Px,Nrf2,and GPX4 proteins were decreased in the DKD group(P<0.01).Compared with the DKD group,the levels of 24 hUAlb,BUN,TC,TG,LDL-C,MDA,ROS,and Fe2+were decreased(P<0.05 or P<0.01),and the expressions of GSH-Px,Nrf2,and GPX4 proteins were increased in the Lir group(P<0.01).Conclusions Liraglutide may exert a protective effect in DKD by upregulating the Nrf2/GPX4 signaling pathway and inhibiting ferroptosis.
9.Research progress of nursing information system in nursing education
Danni HE ; Hongxia LIANG ; Ting ZHANG ; Xiaomin CHEN ; Shihua CAO ; Hongmei LYU ; Yuchao LE
Chinese Journal of Modern Nursing 2025;31(17):2365-2369
As the use of nursing information systems (NIS) in clinical nursing practice has proliferated, NIS education has received increased attention. This paper introduces the background and research form of NIS in nursing education at home and abroad, and summarizes the deficiencies in the application and puts forward suggestions, in order to provide references for the subsequent development of a high-quality system and the development of courses that fit the actual situation of nursing students in China.
10.Improving effectiveness of family doctor contract services based on healthcare failure mode and effect analysis
Xiaomin CHEN ; Yanchang LIANG ; Maokun CHEN ; Xiaolan LIU ; Wenjing HUANG
Chinese Journal of General Practitioners 2025;24(4):486-490
Team management is the key link for improving team work efficiency to achieve team work goals. Currently, there is limited research on the internal management, operation methods and workflow of family doctor teams. Our research group has developed a plan to improve the management process of family doctor contract services based on the Healthcare Failure Mode and Effects Analysis (HFMEA), and preliminarily demonstrated that its implementation improved the effectiveness of family doctor contract services for management of chronic diseases represented by hypertentsion and diabetes. Our experiences have shown that grassroots medical institutions can apply management tools to optimize team service processes and improve team collaboration efficiency under existing human resource constraints, which may provide reference for peers to improve family doctor contract services.

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