1.Effect of variants in the non-coding region of ABO blood group alleles on the weak expression of antigens.
Hua WANG ; Yunxiang WU ; Fei WANG ; Yajun LIANG ; Qing LI ; Jiangtao ZUO ; Yi XU ; Zhicheng LI ; Ruiqing GUO ; Xin ZHANG ; Demei ZHANG
Chinese Journal of Medical Genetics 2025;42(5):628-632
OBJECTIVE:
To explore the regulatory mechanisms underlying the weak expression of ABO blood group antigens due to variants in the non-coding regions of the ABO gene.
METHODS:
From June 2014 to October 2023, a total of 29 samples from the Taiyuan Blood Center and local hospitals, which were serologically identified as having weak ABO antigen expression without detectable coding region mutations, were selected for this study. Full-length ABO gene sequencing was performed using third-generation long-read sequencing technology (Pacific Biosciences) to obtain complete haplotype sequences of the ABO gene. Variants in the non-coding regions were compared and identified to infer their regulatory effects on weak antigen expression. The procedures followed in this study were in accordance with the ethical standards of the World Medical Association's Declaration of Helsinki (2013 revision). The Medical Ethics Committee of Taiyuan Blood Center has granted an exemption from ethical review.
RESULTS:
18 bp deletions in the -35 to -18 region of the promoter were identified in 7 samples. Variants in intron 1 (+5.8 kb) were detected in 7 samples, including ABO*A (28+5792_5793delCT (1 case) and ABO*B (28+5793T>C) located in the GATA binding region; ABO*B (28+5808C>T) (1 case) in the E-box region; and ABO*B (28+5875C>T) (4 cases) in the RUNX1 binding region. Nucleotide variants at splice sites were detected in 2 samples, namely ABO*B (C.98+1G>A) and ABO*B (C.204-2A>C).
CONCLUSION
Variants in the non-coding regulatory sequences of the ABO gene are a significant factor contributing to weak ABO antigen expression. In clinical ABO sequencing, it is essential to screen not only the conventional coding regions but also the flanking sequences, introns, and splice sites of the ABO gene to facilitate precise blood transfusion.
ABO Blood-Group System/genetics*
;
Humans
;
Alleles
;
Promoter Regions, Genetic
;
Haplotypes
;
Introns
2.Effect of variants in the non-coding region of ABO blood group alleles on the weak expression of antigens
Hua WANG ; Yunxiang WU ; Fei WANG ; Yajun LIANG ; Qing LI ; Jiangtao ZUO ; Yi XU ; Zhicheng LI ; Ruiqing GUO ; Xin ZHANG ; Demei ZHANG
Chinese Journal of Medical Genetics 2025;42(5):628-632
Objective:To explore the regulatory mechanisms underlying the weak expression of ABO blood group antigens due to variants in the non-coding regions of the ABO gene. Methods:From June 2014 to October 2023, a total of 29 samples from the Taiyuan Blood Center and local hospitals, which were serologically identified as having weak ABO antigen expression without detectable coding region mutations, were selected for this study. Full-length ABO gene sequencing was performed using third-generation long-read sequencing technology (Pacific Biosciences) to obtain complete haplotype sequences of the ABO gene. Variants in the non-coding regions were compared and identified to infer their regulatory effects on weak antigen expression. The procedures followed in this study were in accordance with the ethical standards of the World Medical Association′s Declaration of Helsinki (2013 revision). The Medical Ethics Committee of Taiyuan Blood Center has granted an exemption from ethical review. Results:18 bp deletions in the -35 to -18 region of the promoter were identified in 7 samples. Variants in intron 1 (+ 5.8 kb) were detected in 7 samples, including ABO* A (28+ 5792_5793delCT (1 case) and ABO* B (28+ 5793T>C) located in the GATA binding region; ABO* B (28+ 5808C>T) (1 case) in the E-box region; and ABO* B (28+ 5875C>T) (4 cases) in the RUNX1 binding region. Nucleotide variants at splice sites were detected in 2 samples, namely ABO* B (C.98+ 1G>A) and ABO* B (C.204-2A>C). Conclusion:Variants in the non-coding regulatory sequences of the ABO gene are a significant factor contributing to weak ABO antigen expression. In clinical ABO sequencing, it is essential to screen not only the conventional coding regions but also the flanking sequences, introns, and splice sites of the ABO gene to facilitate precise blood transfusion.
3.Caregiver Presence Needs and Their Influencing Factors Among Hospitalized Elderly Non-Surgical Patients.
Ran GUO ; Zi-Rong LI ; Ling-Yan ZUO ; Jian-Hua SUN ; Long-Fei YANG ; Hai-Xin BO
Acta Academiae Medicinae Sinicae 2025;47(3):396-401
Objective To analyze the caregiver presence needs and their influencing factors among hospitalized elderly non-surgical patients and provide a basis for formulating relevant policies.Methods A descriptive qualitative study method was adopted.Through purposive sampling,semi-structured interviews were conducted on elderly non-surgical patients and their families and medical staff in Peking Union Medical College Hospital from September to October 2023.MAXQDA 2020 and the 7-step phenomenological analysis method of Colaizzi were used to classify and code the interview contents and identify themes.Results The categories of caregiver presence needs of elderly non-surgical patients included basic living assistance needs,disease monitoring needs,psychological support needs,as well as the needs for family members to provide economic support and participate in treatment decision-making.The influencing factors included advanced age,frailty,the lack of self-care ability in patients with comorbidities,the susceptibility of patients to sudden situations during the disease exacerbation period,the increased risk of unexpected events in patients with psychological distress,and patients' concerns about social support and medical decision-making.Conclusion The caregiver presence needs of elderly non-surgical patients during hospitalization are high and influenced by multiple factors.
Humans
;
Caregivers/psychology*
;
Aged
;
Hospitalization
;
Social Support
;
Male
;
Qualitative Research
;
Female
4.Effect of variants in the non-coding region of ABO blood group alleles on the weak expression of antigens
Hua WANG ; Yunxiang WU ; Fei WANG ; Yajun LIANG ; Qing LI ; Jiangtao ZUO ; Yi XU ; Zhicheng LI ; Ruiqing GUO ; Xin ZHANG ; Demei ZHANG
Chinese Journal of Medical Genetics 2025;42(5):628-632
Objective:To explore the regulatory mechanisms underlying the weak expression of ABO blood group antigens due to variants in the non-coding regions of the ABO gene. Methods:From June 2014 to October 2023, a total of 29 samples from the Taiyuan Blood Center and local hospitals, which were serologically identified as having weak ABO antigen expression without detectable coding region mutations, were selected for this study. Full-length ABO gene sequencing was performed using third-generation long-read sequencing technology (Pacific Biosciences) to obtain complete haplotype sequences of the ABO gene. Variants in the non-coding regions were compared and identified to infer their regulatory effects on weak antigen expression. The procedures followed in this study were in accordance with the ethical standards of the World Medical Association′s Declaration of Helsinki (2013 revision). The Medical Ethics Committee of Taiyuan Blood Center has granted an exemption from ethical review. Results:18 bp deletions in the -35 to -18 region of the promoter were identified in 7 samples. Variants in intron 1 (+ 5.8 kb) were detected in 7 samples, including ABO* A (28+ 5792_5793delCT (1 case) and ABO* B (28+ 5793T>C) located in the GATA binding region; ABO* B (28+ 5808C>T) (1 case) in the E-box region; and ABO* B (28+ 5875C>T) (4 cases) in the RUNX1 binding region. Nucleotide variants at splice sites were detected in 2 samples, namely ABO* B (C.98+ 1G>A) and ABO* B (C.204-2A>C). Conclusion:Variants in the non-coding regulatory sequences of the ABO gene are a significant factor contributing to weak ABO antigen expression. In clinical ABO sequencing, it is essential to screen not only the conventional coding regions but also the flanking sequences, introns, and splice sites of the ABO gene to facilitate precise blood transfusion.
5.Chinese consensus guidelines for therapeutic drug monitoring of polymyxin B, endorsed by the Infection and Chemotherapy Committee of the Shanghai Medical Association and the Therapeutic Drug Monitoring Committee of the Chinese Pharmacological Society.
Xiaofen LIU ; Chenrong HUANG ; Phillip J BERGEN ; Jian LI ; Jingjing ZHANG ; Yijian CHEN ; Yongchuan CHEN ; Beining GUO ; Fupin HU ; Jinfang HU ; Linlin HU ; Xin LI ; Hongqiang QIU ; Hua SHAO ; Tongwen SUN ; Yu WANG ; Ping XU ; Jing YANG ; Yong YANG ; Zhenwei YU ; Bikui ZHANG ; Huaijun ZHU ; Xiaocong ZUO ; Yi ZHANG ; Liyan MIAO ; Jing ZHANG
Journal of Zhejiang University. Science. B 2023;24(2):130-142
Polymyxin B, which is a last-line antibiotic for extensively drug-resistant Gram-negative bacterial infections, became available in China in Dec. 2017. As dose adjustments are based solely on clinical experience of risk toxicity, treatment failure, and emergence of resistance, there is an urgent clinical need to perform therapeutic drug monitoring (TDM) to optimize the use of polymyxin B. It is thus necessary to standardize operating procedures to ensure the accuracy of TDM and provide evidence for their rational use. We report a consensus on TDM guidelines for polymyxin B, as endorsed by the Infection and Chemotherapy Committee of the Shanghai Medical Association and the Therapeutic Drug Monitoring Committee of the Chinese Pharmacological Society. The consensus panel was composed of clinicians, pharmacists, and microbiologists from different provinces in China and Australia who made recommendations regarding target concentrations, sample collection, reporting, and explanation of TDM results. The guidelines provide the first-ever consensus on conducting TDM of polymyxin B, and are intended to guide optimal clinical use.
Humans
;
Anti-Bacterial Agents/therapeutic use*
;
China
;
Drug Monitoring/methods*
;
Polymyxin B
;
Practice Guidelines as Topic
6.Catheter ablation versus medical therapy for atrial fibrillation with prior stroke history: a prospective propensity score-matched cohort study.
Wen-Li DAI ; Zi-Xu ZHAO ; Chao JIANG ; Liu HE ; Ke-Xin YAO ; Yu-Feng WANG ; Ming-Yang GAO ; Yi-Wei LAI ; Jing-Rui ZHANG ; Ming-Xiao LI ; Song ZUO ; Xue-Yuan GUO ; Ri-Bo TANG ; Song-Nan LI ; Chen-Xi JIANG ; Nian LIU ; De-Yong LONG ; Xin DU ; Cai-Hua SANG ; Jian-Zeng DONG ; Chang-Sheng MA
Journal of Geriatric Cardiology 2023;20(10):707-715
BACKGROUND:
Patients with atrial fibrillation (AF) and prior stroke history have a high risk of cardiovascular events despite anticoagulation therapy. It is unclear whether catheter ablation (CA) has further benefits in these patients.
METHODS:
AF patients with a previous history of stroke or systemic embolism (SE) from the prospective Chinese Atrial Fibrillation Registry study between August 2011 and December 2020 were included in the analysis. Patients were matched in a 1:1 ratio to CA or medical treatment (MT) based on propensity score. The primary outcome was a composite of all-cause death or ischemic stroke (IS)/SE.
RESULTS:
During a total of 4.1 ± 2.3 years of follow-up, the primary outcome occurred in 111 patients in the CA group (3.3 per 100 person-years) and in 229 patients in the MT group (5.7 per 100 person-years). The CA group had a lower risk of the primary outcome compared to the MT group [hazard ratio (HR) = 0.59, 95% CI: 0.47-0.74, P < 0.001]. There was a significant decreasing risk of all-cause mortality (HR = 0.43, 95% CI: 0.31-0.61, P < 0.001), IS/SE (HR = 0.73, 95% CI: 0.54-0.97, P = 0.033), cardiovascular mortality (HR = 0.32, 95% CI: 0.19-0.54, P < 0.001) and AF recurrence (HR = 0.33, 95% CI: 0.30-0.37, P < 0.001) in the CA group compared to that in the MT group. Sensitivity analysis generated consistent results when adjusting for time-dependent usage of anticoagulants.
CONCLUSIONS
In AF patients with a prior stroke history, CA was associated with a lower combined risk of all-cause death or IS/SE. Further clinical trials are warranted to confirm the benefits of CA in these patients.
7.Preparation of purified proteins from fresh Pheretima and their inhibitory effect against pulmonary fibrosis in mice.
Shu Yu LI ; Qi Xin YANG ; An Na ZUO ; Lin Hua TIAN ; Jin Hai HUO ; Yan Li MENG ; Qing Fa TANG ; Wei Ming WANG
Journal of Southern Medical University 2022;42(4):618-624
OBJECTIVE:
To develop a convenient method for rapid purification of fresh Pheretima proteins and assess the inhibitory effect of these proteins against pulmonary fibrosis.
METHODS:
The crude extract of fresh Pheretima was obtained by freeze-drying method and then purified by size exclusion chromatography. The composition of the purified proteins was analyzed by mass spectrometry. MRC-5 cells were treated with 5 ng/mL TGF-β1 alone (model group) or in combination with SB431542 (2 μmol/L) or the purified proteins (13.125 μg/mL), and the cytotoxicity of purified proteins and their inhibitory effects on cell proliferation were detected with CCK8 assay. Flow cytometry was used to detect the changes in cell apoptosis, and the cellular expressions of α-SMA, Vimentin, E-cadherin, collagen I, Smad2/3 and P-Smad2/3 were detected using RT-PCR and Western blotting. In the animal experiment, adult male C57BL/6 mice were subjected to intratracheal instillation of bleomycin followed by treatment with the purified proteins (5 mg/mL) for 21 days, after which HE and Masson staining was used to observe the pathological changes in the lung tissue of the mice.
RESULTS:
We successfully obtained purified proteins from fresh Pheretima protein by size exclusion chromatography. Treatment with the purified proteins significantly inhibited TGF-β1-induced proliferation of MRC-5 cells (P < 0.01), reduced the cellular expressions of α-SMA, Vimentin and collagen I (P < 0.001 or P < 0.01), increased the expression of E-cadherin (P < 0.01), and inhibited the expressions of Smad2/3 and P-Smad2/3 (P < 0.001 or P < 0.01). In male C57BL/6 mice models of bleomycin-induced pulmonary fibrosis, treatment with the purified proteins obviously reduced the number of inflammatory cells and fibrotic area in the lungs.
CONCLUSION
The purified proteins from fresh Pheretima obtained by size exclusion chromatography can inhibit pulmonary fibrosis in mice by regulating the TGF-β/ Smad pathway.
Animals
;
Biological Products/pharmacology*
;
Bleomycin/adverse effects*
;
Cadherins/metabolism*
;
Collagen Type I
;
Lung/pathology*
;
Male
;
Mice
;
Mice, Inbred C57BL
;
Oligochaeta/chemistry*
;
Pulmonary Fibrosis/drug therapy*
;
Transforming Growth Factor beta1/metabolism*
;
Vimentin/metabolism*
8.A prospective cohort study on refractive status of schoolchildren in Huangzhong District, Xining City, Qinghai Province.
Qi LIN ; En Tuan YANG ; Li LI ; Ji Feng YU ; Xue LIU ; Hua Xin ZUO ; Man Jun LIU ; Hui Hui CHU ; Yin Zheng ZHAO ; Jidi ZHANG
Chinese Journal of Preventive Medicine 2022;56(9):1251-1256
Objective: To determine the characteristics and progress of the visual acuity and refractive state of schoolchildren in Huangzhong District, Xining City, Qinghai Province in China. Methods: Cohort study. Department of Ophthalmology, Beijing Children's Hospital carried out a cohort study by collecting the visual acuity and refractive state of Grade 1-5 schoolchildren among 16 primary schools in Huangzhong District, Xining City, Qinghai Province in September 2020 and July 2021. Cycloplegic retinoscopy with eye drop which contained tropicamide (0.5%) and phenylephrine hydrochloride (0.5%) was performed in children with low vision(<1.0). Myopia was defined as the spherical equivalent (SE) ≤-0.5 D after cycloplegic retinoscopy. Measurement data was analyzed by t-test and enumeration data was analyzed by χ2 test. Multiple linear regression was used to analyze the influencing factors. Results: The 2 489 individuals with repeated tests in two years were included in the follow-up study, among whom the prevalence of myopia was 26.24%(653/2 489) in 2020, while 32.94% (820/2 489)respectively in 2021. The incidence of myopia in one school year from grades 1 to 5 was 11.19%(47/420), 5.44%(21/386), 6.39%(25/391), 11.52%(44/382) and 11.67%(30/257). The average SE of children in all grades in 2021 increased negatively from the previous year (Grade 1 to Grade 5 increased respectively: 0.40 D, 0.69 D, 0.62 D, 0.52 D and 0.37 D). Conclusions: The prevalence of myopia among schoolchildren in Huangzhong District, Xining City, Qinghai Province was relatively high. There were two peaks of myopia incidence in the first, fourth and fifth grades. Female, age, and the baseline of SE were the related influencing factors for myopia progression.
Child
;
Cohort Studies
;
Female
;
Follow-Up Studies
;
Humans
;
Mydriatics
;
Myopia/epidemiology*
;
Ophthalmic Solutions
;
Phenylephrine
;
Prevalence
;
Prospective Studies
;
Tropicamide
9.Endovascular abdominal aortic aneurysm repair with a new stent graft:early results from a multicenter study.
Hong Peng ZHANG ; Xi Wei ZHANG ; Xiang Chen DAI ; Min TIAN ; Bin YANG ; Zhi Wei WANG ; Xiao Jun SHU ; Yu Hong CHEN ; Jian Jun JIANG ; Jian Hua HUANG ; Chang SHU ; Xiao QIN ; Xin Wu LU ; Hong Kun ZHANG ; Wei BI ; Yong LIU ; Bing CHEN ; Zhi Peng HU ; Jian ZUO ; Ping Fan GUO ; Jun LUO ; Xini Yuan TONG ; Wei GUO
Chinese Journal of Surgery 2022;60(12):1049-1056
Objective: To examine the safety and effectiveness of a new stent graft system for endovascular repair of abdominal aortic aneurysm(AAA). Methods: This is a prospective,multi-center,single-arm clinical trial. The patients with AAA treated with a new stent graft system were enrolled at 21 centers from September 2018 to September 2019 in China. Follow-up was performed before discharge, and at 30, 180, 360 days after operation, respectively. The primary safety endpoint was the incidence of major adverse events(MAE) within 30 days. The primary efficacy endpoint was the success rate of AAA treatment at 360 days. Secondary safety endpoints were the incidence of perioperative access complications and acute lower limb ischemia,all-cause mortality, AAA related mortality and incidence of serious adverse events (SAE) at 180 and 360 days. Secondary efficacy endpoints were the incidence of type Ⅰ or Ⅲ endoleak,stent displacement,and conversion to open surgery or re-intervention at 180 and 360 days. Results: One hundred and fifty-six patients were enrolled,including 137 males and 19 females. The age was (68.9±6.9) years (range:48.2 to 84.6 years).Maximum aneurysm diameter was (50.8±11.2) mm (range:25.0 to 85.0 mm),diameter of proximal landing zone was (21.2±2.5) mm (range:17.0 to 29.5 mm),and length of proximal landing zone was (31.4±13.0) mm (range:11.0 to 75.0 mm).The incidence of MAE was 1.3% (2/156) at 30 days,both were all-cause death cases. The success rate of AAA treatment was 88.5% (138/156) at 360 days. No perioperative access complication and acute lower limb ischemia occurred. All-cause mortality was 2.0% (3/154) at 180 days and 2.6% (4/153) at 360 days,and there was no AAA related death. The incidence of SAE was 23.0%(35/152) at 180 days and 30.5%(46/151) at 360 days, and no device-related SAE occurred. The incidence of type Ⅰor Ⅲ endoleak was 3.4% (5/147) at 180 days and 3.5% (5/144) at 360 days. Conclusion: The new stent graft system is easy to operate,and early-term safety and effectiveness results are expected.
Humans
;
Middle Aged
;
Aged
;
Aged, 80 and over
;
Prospective Studies
;
China
;
Ischemia
;
Aortic Aneurysm, Abdominal/surgery*
10.Interpretation of the European Federation of Periodontology S3 level clinical practice guideline for treatment of stage Ⅳ periodontitis.
Bin CHEN ; Yan Fang LI ; Ri Xin CHEN ; Min WANG ; Yue LI ; Hua NIE ; Zuo Min WANG ; Fuhua YAN
Chinese Journal of Stomatology 2022;57(12):1195-1201
The S3 level clinical practice guideline for the treatment of stage Ⅳperiodontitis, developed by the European Federation of Periodontology, was published in April 22, 2022 (DOI: 10.1111/jcpe.13639). According to the severity and complexity, stage Ⅳ periodontitis was grouped into four case types, and comprehensive treatment plans were formulated correspondingly in the guideline, including tooth splinting, occlusal adjustment, orthodontic therapy, restorative therapy, and personalized supportive periodontal care as well. The aim of present work is to intensively interpret the key points of the guideline and help the clinicians to understand this guideline better, in order to improve the treatment level of stage Ⅳ periodontitis in China.
Humans
;
Periodontitis/therapy*
;
Periodontics
;
Tooth
;
Occlusal Adjustment
;
China

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